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PMC7276389_01 | Female | 29 | A 29 years old female, physician by profession presented to the emergency department with a history of aggressive vomiting five weeks back followed by left upper abdominal, a single episode of loose motion, subcostal pain radiating to left shoulder associated with shortness of breath (SOB) and was unable to take full inspiration. The patient has a history of heartburn, early satiety, indigestion, and food regurgitation six years ago and diagnosed and managed as gastroesophageal reflux disease in her native country.
The primary evaluation shows a toxic looking afebrile patient with vitals as; respiratory rate-27/min, pulse 87/min. Along with first-level management, abdominal ultrasonography (US) and initial laboratory workup were done in ED with no abnormal findings and the patient discharged home after the primary management independently and not asking surgeon on-call help. Upon no improvement, the patient revisited the ED where chest x-ray (CXR) as primary imaging modality was requested by surgeon on-call that showed raised right hemidiaphragm with no well discernible outlines, air-filled bowel loops above the hepatic shadow, a chilaiditi's sign, with no mediastinal shift (Fig. 1a), thus a provisional diagnosis of the right-sided diagrammatic hernia was made.
Following CXR, a non-contrast CT requested showing stomach and parts of the colon in the right thoracic cavity (Fig. 2a) along with spleen located posterior to the heart - the retrocardiac spleen (Fig. 2b), thus a final diagnosis of Bochdalek hernia was made.
Severe vomiting, a few weeks earlier was the triggering event in the patient that led to the initiation of the clinical picture. After initial stabilization, the patient was transferred to a regional tertiary care facility for cardiothoracic surgeon evaluation and management where via open thoracotomy, contents reduced and fortunately there was no vascular compromise. Repair done. Post-operative chest x-ray shows normal findings (Fig. 1b). The patient had uneventful recovery and discharged home on 10th post-operative day. The patient did well in her follow-up period. To the best of our knowledge, it is the first reported case of Bochdalek hernia associated with the retrocardiac spleen in an adult female in the published literature. | bochdalek, diaphragm, emergency care, hernia, physician, retrocardiac, spleen | Not supported with pagination yet | null |
PMC6288572_01 | Male | 53 | A 53-year-old male, smoker (20 pack-years), occasional alcoholic, presented with complaints of blood expectoration of 400 ml in one episode followed by 100-150 ml for 2-3 days. He had 3 episodes of similar history which required hospitalizations and emergency care since 9 months. He denied history of fever, chest pain, and loss of appetite. He underwent cholecystectomy 3 years ago. There was no history of systemic immune suppression like diabetes. He had undergone bronchial artery embolization for massive haemoptysis; however, his haemoptysis persisted and diagnosis remained elusive after evaluation with sputum studies and CT-guided aspiration cytology, biopsy, and bronchoscopic lavage. He was treated for LRTI with multiple courses of antibiotics for more than 9 months.
On examination, vitals were normal with no respiratory distress. Oral hygiene was poor with dental caries. Respiratory examination revealed scattered crackles in the left lower lobe area. Chest X-ray showed an inhomogeneous opacity in the left lower zone with raised left diaphragm (Figure 1), and CECT (contrast-enhanced computer tomogram) chest showed a hypodense lesion with irregular margins in the anterior segment of the left lower lobe adjacent to the descending aorta and associated subcarinal lymphadenopathy (Figures 2 and 3). Image-guided transthoracic biopsy showed type 2 alveolar cell hyperplasia with negative immunohistochemistry. Bronchoscopy confirmed left lower lobe bleed with any endoluminal lesion. Bronchial wash was negative for microbiological and cytological studies including AFB stain, geneXpert for MTB complex, and pyogenic culture. Patient's symptoms of haemoptysis persisted; hence, CT angiogram was performed, which showed dilated vascular channels within the lesion without any obvious extravasations of contrast and no aortic abnormality.
Probable diagnosis of the left intrapulmonary vascular lesion was made and hence the patient underwent left lower lobe lobectomy. Intraoperatively, the left lower lobe was adherent posterolaterally to the aorta and diaphragm. Multiple prominent blood vessels in areas of adhesion were seen. Histopathology was suggestive of chronic inflammatory cells with focal aggregates of lymphocytes with positive GMS staining for actinomycosis (Figure 4). Postoperatively, the patient received parenteral benzylpenicillin 20 lakh units 6th hourly for 3 months. The patient was in regular follow-up, and no further episodes of haemoptysis and no recent respiratory complaints are reported. | null | Not supported with pagination yet | null |
PMC9869191_01 | Female | 36 | The patient was a 36-year-old female. The left side chest pain occurred more than 1 month ago and continued to deteriorate for 10 days. She had repeated pulmonary infection, accompanied by cough and expectoration. Her maximum temperature was 38.5 C, without chest tightness and dyspnea. Physical examination: the chest was barrel shaped, and no definite abnormality was found in chest auscultation and palpation. Cardiac examination was normal. The laboratory test of human immunodeficiency virus (HIV) was negative, and there was no contact history of tuberculosis. The patient's abdominal CT plain scan showed no obvious abnormality.
The lung window in axial and sagittal position of multi-detector spiral CT showed that the bilateral basal lung isthmus was connected, extending behind the pericardium and crossing the midline for fusion. The left lower lung basal segment had sparse lung markings, with increased transparency, and patchy shadows could be seen near the spine at the bottom of both lungs. There was an obvious pleural interface between the isthmus and the left lung (arrow) (Figures 1 and 2). Transparent imaging (Figure 3) showed the isthmus lung tissue among the lungs (arrow). The three-dimensional volume-rendered imaging of the bronchus (Figure 4) showed that the bronchial branches of the lower lobe of the left lung were thinner than those of the right side. Cystic changes could be seen at the beginning of the lower lobe of the left lung. The outer and posterior basal segments of the lower lobe of the left lung fused at the beginning, and the distal branches were sparse. Thoracic CT angiography scanning (Figures 5 and 6): consolidation shadow could be seen in the basal segment of the lower lobe of both lungs, with the left lung as the focus, and multiple calcified nodules could be seen in it. The blood supply arteries of bilateral lesions directly originated from the adjacent trunk of thoracic aorta (arrows). | cta, horseshoe lung, adults, pulmonary sequestration | Not supported with pagination yet | null |
PMC3108731_01 | Male | 41 | A 41-year-old male was admitted to the hospital with symptoms of diarrhea, fever, dyspnea and right pleural effusion. The illness began in the latter part of August 2008, initially presenting with diarrhea and fever. He was an MSM and the serology for HIV antibody was positive. He had no history of traveling abroad, alcoholism, any medication or intravenous drug use. His vital signs on admission were; conscious, blood pressure 95/60 mmHg, pulse late 146 beats/min, respiration, 45 breaths/min, saturation O2 (room air), 88% and body temperature 39 C. The notable findings of a physical examination included emaciation (BMI 16.1), oral candidasis and decreased breath sounds on the right side of his chest. A chest radiograph and computed tomography (CT) of the chest showed a large amount of right pleural effusion (Figure 1). A CT scan of the abdomen detected large liver abscess (Figure 2). The laboratory data included a leukocyte count of 10,320/muL with 89% neutrophils, 8% lymphocytes, 3% monocytes, hemoglobin 8.8 g/dL, C-reactive protein 23.6 mg/dL, aspirate aminotransferase 95 U/L, alanine aminotransferase 74 U/L, alkaline phosphatase 478 U/L, gamma-glutamyl transpeptidase 134 U/L, albumin 2.1 g/dL, total cholesterol 57 mg/dL, blood urea nitrogen 18.4 mg/dL, creatine 0.57 mg/dL and hyponatremia (123 mEq/L). The findings of human immunodeficiency virus type 1 antibody tests were positive for enzyme immunoassays (EIA) and also based on the Western blot method. Thoracentesis revealed milk chocolate or cafe au lait colored pleural fluid (Figure 3). In an examination of the pleural fluid, cytology, bacterial culture, smear and polymerase chain reaction to detect Mycobacterium tuberculosis DNA were negative, the adenosine deaminase activity was 240 IU/L. The pleural fluid showed a cell count of 40125/mL (74.3% neutrocytes, 25.7% monocytes). Other examinations of the laboratory findings detected cysts of Entamoeba histolytica in the patient's stool. The CD4 lymphocyte count in the peripheral blood was 179/muL (repeated counts for CD4 lymphocytes ranged from 286 to 359/muL) and the amount of HIV-RNA was 3700 copies/muL (repeated counts for HIV-RNA ranged from 43,000 to 90,000 copies/mL). Although E. histolytica was not identified from the pleural fluid, antibodies (fluorescence antibody technique) against E. histolytica were demonstrated in the serum (200x). The patient was thus diagnosed to have amoebic colitis, amoebic liver abscess and amoebic empyema complicated with an HIV infection. The right side pleural effusion was drained using a chest tube and he was administered metronidazole (2250 mg/day) orally for 28 days in total. A large volume of pus was drained from the right thoracic space. A small volume remained. The right lung was re-expanded. His fever, dyspnea and general condition significantly improved thereafter. The patient was therefore administered trimethoprim-sulfamethoxazole to prevent pneumocystis pneumonia and itraconazole to prevent fungal infections. However, he developed agranulocytosis 22 days after administration. The absolute neutrophil count was 0/muL. Agranulocytosis in this case was therefore considered to have been caused by the administration of trimethoprim-sulfamethoxazole. After the discontinuation of trimethoprim-sulfamethoxazole, the recombinant human granulocyte colony-stimulating factor (G-CSF) drug filgrastim was administered daily at a dose of 200 mug/m2 intravenously. Following 4 days of treatment with G-CSF, the patient's absolute neutrophil count was above 9/muL, while after 7 days of treatment it was 2990/muL (white blood cell count 4600/muL, neutrophils 65%). The patient did not demonstrate any further infection during the clinical course. He was discharged 45 days after admission. | hiv, agranulocytosis, amebiasis, amoebic empyema, trimethoprim-sulfamethoxazole | Not supported with pagination yet | null |
PMC6396444_01 | Male | 26 | We present the case of a 26-year-old male who is referred to the digestive consultation by two episodes of spontaneous paraesophageal abscess in an interval of 2 years.
It is a patient with no pathological history of interest that is presented in the Emergency Service for dysphagia for solids of 3 days of evolution that at the same time was suffering stabbing chest pain and fever of up to 38.8 C in the last 24 h. In the last year the patient had already been in the Emergency Room (ER) twice for chest pain with non-altered complementary tests. The patient denies having any traumatic history or onset of symptomatology after food impaction. The physical examination shows no abnormality on a hemodynamically stable patient. It is performed a blood test showed a C reactive protein (CRP) 190 mg/L (Normal values 0-5 mg/L), and white blood cells 12,000/muL (Normal values 4000-10,000). For that reason it is decided to perform thoracic-abdominal computed tomography (CT), where a collection of 8 x 4 x 5 cm is displayed in the third inferior-posterior of the esophagus compatible with hematoma vs mediastinal abscess (Fig. 1).
The surgery service is contacted and it is decided to choose the conservative treatment with broad-spectrum antibiotics and absolute diet. During the admission, a echocardiogram with normal results was performed, an esophagogram that does not present alterations and a gastroscopy, where a linear ulcer of 5 mm in distal third of esophagus with biopsy that shows granulation tissue was found.
The patient is discharged 7 days after, with the normalization of his analytical and clinical parameters, and showing a correct oral tolerance for later control in consultations.
An outpatient USE is requested 3 weeks later, after being discharged, where no paraesophageal collection is displayed. Gastroscopy was repeated where the esophageal ulcer is not visualized and biopsies are taken from the distal and proximal esophagus. In those biopsies, it is noticed an eosinophilic inflammatory infiltration of 40 eosinophils per field.
The patient does not attend any control, so no treatment is started.
One year later the patient returns to the emergency department with chest pain and dysphagia with same characteristics, and elevation of CRP and white blood cells. Again, a toraco-abdominal CT is performed, objectivizing mediastinal collection in the same location as 1 year before, with a size of 7 x 4 x 4 cm, compatible with abscess, which is retreated in a conservative manner with broad spectrum antibiotics. After 10 days, a CT control confirms resolution of the collection.
Ambulatory gastroscopy is performed with biopsy-taking by objectivizing an eosinophilic inflammatory infiltrate compatible with eosinophilic esophagitis.
The patient denies dysphagia, chest pain, heartburn or any other clinic between episodes of mediastinal abscess.
It starts treatment with proton pump inhibitor in double doses during 8 weeks, persisting the eosinophilic inflammatory infiltrate in the biopsies. It is agreed a diet with the patient where two foods will be removed (milk and wheat), obtaining histological remission, and identifying the milk as the cause of the inflammation.
After 2 years of follow-up, the patient maintains milk and derivatives restriction, and has not shown again any episodes of mediastinal abscess. | eosinophilic, eosinophilic esophagitis, esophagitis, mediastinal abscess | Not supported with pagination yet | null |
PMC9302883_01 | Male | 21 | The patient, a 21-year-old Uygur male, had a history of fever and diarrhea for 8 days, with the highest body temperature of about 38.6 C, accompanied by chills, and sparse watery stool several times, without abdominal pain. Due to the intermittently increased temperature after taking non-steroidal anti-inflammatory drugs (NSAIDs), the patient was treated in the fever clinic but got a poor treatment effect, therefore he was admitted to the emergency department on October 10, 2021.
Physical examination on admission showed a body temperature of 38 C, pulse of 102 times/min, respiration of 23 times/min, and blood pressure of 125/72 mmHg, with clear consciousness, palpable spleen under the ribs. No other significant abnormalities were found in other physical examinations.
Emergency laboratory analysis in the emergency department indicated the following: white blood cell count decreased from normal range to 1.56 x 109/L (reference value, RV 3.5-9.5 x 109/L), hemoglobin was 166 g/L (RV 130-175 g/L), platelet decreased from normal range to 74 x 109/L (RV 125-350 x 109/L), aspartate aminotransferase was 150u/L (RV 15-40 u/L), lactate dehydrogenase was 1249 u/L (RV 109-245 u/L), triglyceride was 2.29 mmol/L (RV 0.45-1.7 mmol/L), sodium was 124.2 mmol/L (RV 137-147 mmol/L), fibrinogen decreased from normal range to 1.27 g/L (RV 2-4 g/L), sCD25 was 25,398 pg/mL (RV < 6,400pg/mL), ferritin was 3671u g/L (RV 30-400ng/mL), natural killer cell activity was 18.48% (RV >= 15.11%). G-test (serum (1,3)-beta-D-glucan test) was positive, GM-test (galactomannan test) was negative, and blood culture, procalcitonin, c-reactive protein, erythrocyte sedimentation rate and T-SPOT.TB test were all negative. Mycoplasma pneumoniae antibody IgM (Passive Particle Agglutination, FUJIREBIO) was 1:80 positive (RV < 1:20), Legionella pneumophila antibody IgM (ELISA, Euroimmun) was 0.82 positive (RV < 0.8). The detection of Cytomegalovirus (CMV), Epstein Barr virus (EBV), Adenovirus and Coxsackievirus were all negative (real-time PCR). The oncological and immunological indexes were normal. Plain CT scan of the thoracoabdominal basin showed mild fatty liver and splenomegaly (Figure 1). There are many small lymph nodes in the hepatogastric space and retroperitoneal space.
Referring to HLH-2004 diagnostic criteria, the patient met the following conditions: (1) Temperature > 38.5 C for more than 7 days; (2) Hemocytopenia (WBC <10 x 109/L, PLT <100 x 109/L, hemoglobin 166 g/L); (3)Splenomegaly; (4)Low fibrinogen (FIB <1.5 g/L) and high triglycerides (2.29 mmol/L), although not meeting the diagnostic criteria (3 mmol/L); (5)Ferritin > 500u g/L;(6)sCD25 > 6,400 pg/mL. Considering the definitive diagnosis of HLH, the patient was treated with 20 g immunoglobulin QD (8 days) and 0.5 g imipenem cilastatin sodium Q8H, and his leukocytes, platelets, and fibrinogen gradually returned to normal levels. However, on day 14 after his onset, the patient developed a series of symptoms of peripheral nerve involvement, as shown in Table 1.
Lumbar puncture was performed on the 16th day. Cerebrospinal fluid showed a low pressure and turbid appearance, containing 150 white cells/muL (90% lymphocytes, 10% neutrophils), protein 1.09 g/L, glucose 2.37 mmol/L, and chlorine 100.6 mmol/L; Bacteria, fungi, cryptococcus, and Mycobacterium tuberculosis were all negative; Rubella virus, CMV and EBV IgM antibody and DNA were later reported as negative. CSF and serum albumin data: CSF and serum albumin was 3.27 and 37 g/L, respectively (October 19); while 1.09 and 32.6 g/L, respectively (October 22). The albumin quotient (albumin in CSF/albumin in serum) indicated that an increased permeability of the blood-brain. No abnormality was found in CSF next-generation sequencing technology (NGS) implemented by Biotechnology Co., Ltd. Briefly, they optimized the internal index adapter and real-time analysis pipeline, established the optimal threshold for pathogen identification, and performed rapid metagenomic-NGS analysis. Peripheral neuropathy, demyelination, paraneoplastic tumor, autoimmune brain-related antibodies, serum antibodies IgM and IgG of C. jejuni were positive by enzyme-linked immunosorbent assay (ELISA), performed by Dr. Hao from the first hospital of Peking University, The values of IgM and IgG were greater than the negative control values (the cut-off values were 0.08 and 0.16 respectively) even after 1:160 dilution. Given the clinical presentation and CSF findings, based on intravenous dexamethasone of 20mg QD, the treatment regimen was adjusted to meropenem 1000 mg Q8H combined with acyclovir 60 mg Q8H and Mecobalamin 500 ug QD. On the 18th day, the patient's body temperature dropped to normal. On the 19th day, the lumbar puncture was performed again, and the cerebrospinal fluid became clear. CSF laboratory examination showed white blood cell count of 91/muL (92% single nucleus, 8% multiple nuclei), protein level of 3.27 g/L, normal glucose and chlorine, as well as negative NGS. Electromyography (Table 2) and cranial MRI were generally normal.
Considering the peripheral nerve injury and cerebrospinal fluid protein cell separation, GBS secondary to C. jejuni infection was specifically classified as Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis. On the 23rd day of onset, the diameter of the right pupil gradually recovered to 4 mm the pupillary light reflex, and the closing function of the right upper eyelid gradually recovered. On the 26th day, dexamethasone was reduced to 10 mg QD. On the 27th day, the left pupil diameter recovered to about 4 mm, and the pupillary light reflex recovered. On the 28th day, the patient defecated autonomously. On the 41st day, spontaneous urination recovered, and the patient was hospitalized for 42 days. Before discharge, the patient had left bilateral facial paralysis and mild diplopia in both eyes. One month after discharge, the patient was followed up, leaving slight facial paralysis, and other symptoms returned to normal. | campylobacter jejuni, guillain-barre syndrome, facial paralysis, hemophagocytic lymphohistiocytosis, ophthalmoplegia, peripheral nerve injury | Not supported with pagination yet | null |
PMC10323808_01 | Female | 62 | A 62-year-old female renal transplant recipient was admitted to hospital on 20 August 2021, with a 5 week history of recurrent fevers and progressive dry cough without haemoptysis or dyspnoea. She did not report any unintentional weight loss, night sweats, fatigue or altered mentation. She had no recent sick contact exposures (including no prior risk of exposure to tuberculosis) or significant travel history. Her past medical history included deceased donor renal transplant in October 2012, stable on tacrolimus and mycophenolate mofetil without any history of rejection. Other medical and surgical history included workup for chronic hypophosphataemia and hypocalcaemia requiring weekly electrolyte replacement infusions via Groshong line (inserted March 2021), prior hemicolectomy for diverticular disease and parathyroidectomy.
On examination, she was haemodynamically stable with blood pressure of 151/67, pulse rate of 69 beats min-1 and body temperature of 36.8 C. Lung auscultation was normal without any bilateral adventitious sounds, and cardiovascular examination did not reveal any murmurs or other stigmata of infective endocarditis. Groshong line site did not demonstrate purulent discharge or overlying cellulitis. Laboratory investigations showed a peripheral white blood cell count of 5.1x109 l-1 (normal range 4.5-11.0x109 l-1) with a neutrophil count of 3.4x109 l-1 (normal range 2.0-8.0 x 109 l-1). Inflammatory markers were elevated with C-reactive protein of 23.2 mg l-1 (normal <3.1 mg l-1).
Chest radiograph followed by whole-body computed tomography (CT) scan revealed multifocal ground-glass opacities suspicious for pulmonary septic emboli, without cavitary lesions (Fig. 1). Transthoracic and subsequent trans-oesophageal echocardiography were negative for vegetations or haemodynamically significant valvular dysfunction.
In the context of recurrent fevers occurring in temporal relation to weekly electrolyte infusions, outpatient blood cultures were initially obtained 2 weeks prior to admission and Gram-positive bacilli were only isolated from the aerobic bottle. The patient was initiated on intravenous (IV) vancomycin. Questions remained as to whether the positive blood culture was attributable to contamination and initially the organism was not identified using MALDI-TOF VITEK MS V3 (bioMerieux, Marcy L'Etoile, France). Subsequent repeat blood cultures collected both from peripheral draw and tunnelled Groshong line over a 2 week period continued to isolate Gram-positive bacilli only in aerobic bottles (Figs 2 and 3). The organism showed beige, non-haemolytic colonies that were mucoid in appearance and adherent to media, catalase-positive and partially acid-fast. In our local microbiology laboratory, API Coryne system (bioMerieux, Marcy L'Etoile, France) gave an identification of Rhodococcus spp.
Inoculum was prepared from blood agar after incubating the isolate for 3-5 days at 35 C (+/- 2 C), with suspension made to 0.5 McFarland standard. The minimum inhibitory concentrations (MICs) were determined using E-test gradient strip (bioMerieux, France) as part of non-standardized susceptibility testing for this isolate. Findings were interpreted as per Clinical and Laboratory Standards Institute (CLSI) M24. The results showed susceptibility to amoxicillin/clavulanate, azithromycin, ciprofloxacin, linezolid, penicillin and vancomycin; it was intermediate to doxycycline. Hence, oral ciprofloxacin 500 mg twice daily was added to the patient's regimen on the third day of admission as combination antimicrobial therapy. As her Groshong line was the suspected source of bacteraemia, it was subsequently removed and the catheter tip bacterial culture isolated Gram-positive bacilli after 4 days of incubation. Repeat blood cultures after 5 days of antibiotics (1 day post-line removal) were negative. | 16s rrna, actinomycetes, gordonia, central line-associated bloodstream infection | Not supported with pagination yet | null |
PMC9273775_01 | Male | 19 | Both the patient, a 19-year-old male who was previously healthy, and his father had weakness of the left eyelid muscle (Figures 1, 2), although their vision was normal. The patient's mother and sister were in good health. After lifting heavy objects, the patient presented with intermittent distending pain and discomfort in the right inguinal region, he did not pay attention to these symptoms and did not seek medical treatment. As the patient's symptoms worsened, a right inguinal hernia was suspected and diagnosed by the family doctor but was not treated further. 2 days later, there was skin itching in the right inguinal area, accompanied by redness, swelling and discomfort of the right scrotum, and he went to the local hospital again. Ultrasound examination showed that a contusion of the right testis may have been complicated with orchitis (no specific medical data). Rest was recommended. The pain was not relieved by oral levofloxacin but resolved on its own 3 days later; nevertheless, it became aggravated and unbearable after exercise. At the same time, the scrotal swelling had significantly increased. He came to the emergency room of our hospital, where a plain CT scan showed scrotal enlargement of unknown cause. Upon admission, the right scrotum was obviously enlarged and tender. It had a high surface temperature, normal skin color, negative scrotal elevation test, negative light transmission test, normal sex hormones and normal tumor markers (including Alpha-fetoprotein, chorionic gonadotropin, carbohydrate antigen-199, carbohydrate antigen-125, serum ferritin, and carcinoembryonic antigen). After admission, the patient was treated with levofloxacin, but the pain was still not relieved. On the second day after admission, ultrasound showed heterogenous echo of the right testis. Considering the possibility of inflammatory lesions, neither testicular tuberculosis nor a tumor could be ruled out. A plain + enhanced abdominal CT scan suggested that inflammatory lesions of the testis with necrosis were possible. In addition, there were some secondary changes in the spermatic vessels, and the spermatic vessels could be seen more clearly (Figure 3). After communicating with the patient and his family, he gave informed consent for exploration of the right scrotum, which was performed under general anesthesia.
We made a right groin incision and cut the skin subcutaneously and each layer of muscle in turn, exposing the spermatic cord. We observed hyperaemia and oedema of the spermatic cord blood vessels and surrounding tissue. We rotated the testis approximately 90 degrees, lifted the testis out of the scrotum, opened the testicular sheath, and observed a small amount of bloody fluid within. We opened the tunica albuginea, where we observed a large amount of bloody fluid and a fish-like tissue bulge. The whole testicular boundary was unclear, the epididymis was enlarged, and the tunica albuginea had a visible tear of approximately 1.5 cm in length (Figure 4). Radical orchiectomy was performed on the right side, the spermatic cord was resected in a high position, and the incision was sutured step by step.
Haematoxylin-eosin staining (Figure 5). Immunohistochemistry results: Desmin (partly +, Figure 6), SMA (-), MyoD1 (+, Figure 7), Myogenin (+, Figure 8), CD34 (1), STAT-6 (1), S-100 (-), SOX-10 (-), CK (-), EMA (-), TLE1 (-), Ki-67 (80%+, Figure 9). The pathological diagnosis was rhabdomyosarco-ma of the right testis. The postoperative chromosome karyotype analysis showed that there was no Y chromosome microdeletion. Positron emission tomography (PET) examination showed no systemic metabolic abnormalities and no systemic metastasis. These findings suggested that the patient should be treated with a VAC regimen (vincristine, doxorubicin, cyclophosphamide). The patient refused further systemic treatment for personal reasons and is currently under follow-up. | case report, rhabdomyosarcoma, spontaneous rupture, testis, unilateral ptosis | Not supported with pagination yet | null |
PMC10415754_01 | Male | 31 | A 31-year-old man with a past medical history of intravenous drug use (IVDU), specifically heroin and cocaine, and untreated hepatitis C virus infection presented to the emergency department for the evaluation of chest pain. The patient's chest pain began approximately 5 days prior to presentation as a sharp, non-radiating, persistent pain, which was worse with inspiration and on movement. The pain progressed to 10/10 in intensity below the nipples bilaterally. Our patient endorsed exertional dyspnea mostly because of the inability to inspire without significant pain and subjective fever. He also reported worsening cough productive of light green sputum and, at times, a scant amount of blood. Moreover, approximately a week prior, the patient missed a vein while injecting the drug in the right side of his neck which led to swelling and redness of the area. The remainder of the review of systems was noncontributory. As for his past medical history, our patient reported being informed he was positive for hepatitis C 10 years prior, but he did not seek treatment nor did he follow up with medical providers for the same. The patient has a smoking history of 15 pack years and has been injecting "speedball", a mixture of cocaine and heroin, almost daily for the last 10 years. Our patient reported using "a bundle and a half" of heroin together with "few grams" of cocaine in powder form with water daily. When the patient was not able to acquire cocaine, he used crack which comes in solid "rock" form. He reported crushing the rock form and diluting it with vinegar. He heated the mixture after filtering through cotton-wool before injecting himself using a syringe. The patient generally uses his neck and left arm veins to inject drugs. Our patient used the same syringe for up to a month. He reported that, at times, the needle tip would break off in tiny fragments and it would become difficult to acquire access through it. The patient's last use of these drugs was the day of admission. Our patient admitted to being homeless and has been living on the streets for the last 3 years.
Initial vital signs demonstrated a temperature of 98.7 F, pulse of 135/min, respiratory rate of 19/min and blood pressure of 108/72 mmHg. He appeared to be in mild distress, with poor inspiratory effort due to pain. Physical examination was significant for poor dentition including a few chipped and missing teeth but no oral lesions or thrush. There was an area of erythema, induration and tenderness on the right side of the neck, about 4 x 10cm in size. Lungs were clear to auscultation bilaterally. Cardiac auscultation revealed normal S1 and S2, with no murmurs, rubs or gallops. Examination of the extremities revealed track marks on left antecubital fossa and onychomycosis of the nail beds. Stigmata of bacterial endocarditis were not seen.
Initial laboratory data was significant for a normal white blood cell (WBC) count of 8.5 K/muL, hemoglobin of 10.2 gm/dL and platelet count of 106 K/muL. The patient's mean corpuscular volume (MCV) was 73.6 fL, with red cell distribution width of 15.3%. Serum sodium was 129 mEq/L, with otherwise unremarkable basic metabolic panel. Serum lactic acid was 1.2 mmol/L (normal 0.5-2.2 mmol/L) and D-dimer was 1197 ng/mL (normal 0-230 ng/mL). Erythrocyte sedimentation rate (ESR) was 95 mm/hr (normal 0-15 mm/hr) and C-reactive protein (CRP) was 15.2 ng/dL (normal <1.0 ng/dL). Urine drug screen was positive for cocaine and opiates but negative for amphetamines. Chest X-ray indicated a patchy increased density in the left lower lobe, lingula, and right middle and lower lobes (Fig. 1). Given a significantly elevated d-dimer in the setting of tachycardia, CT angiography of the chest was performed which excluded pulmonary embolism. However, multiple, fluffy, nodules of varying size and ill-defined margins were seen throughout both lungs (Fig. 2). Some of these nodules were cavitary. Larger coalescent areas were seen in the left lower lobe and the lingula. These findings were concerning for septic emboli or metastatic disease. As a result, CT abdomen and pelvis with contrast was performed which did not show any masses. The only finding was splenomegaly, measuring 18cm in length. Furthermore, given the findings of tenderness on the right side of the neck, CT of the neck with contrast performed to exclude septic jugular vein phlebitis or Lemierre's syndrome was unremarkable.
Meanwhile, blood cultures were drawn and our patient was empirically administered intravenous (IV) Vancomycin 1 g and Piperacillin-Tazobactam 3.375 g. Emergent transthoracic echocardiogram (TTE) was performed which did not show valvular vegetation or abscess. Given a high suspicion of bacterial endocarditis (BE), trans-esophageal echocardiogram (TEE) was performed which also did not show any vegetations or abscess. Piperacillin-tazobactam was changed to IV Cefepime 2 g every 12 hours. IV Vancomycin was continued to achieve a therapeutic vancomycin trough level. Pulmonology was consulted and, based on the findings on high resolution CT scan of the chest (Fig. 3), the decision was made to perform navigational bronchoscopy to obtain endobronchial and transbronchial lung biopsies. Specimens were obtained from the right lower lobe using a needle biopsy, and near the pleura using the forceps. A few specimens were also obtained using triple needle brush. In addition, specimens from bronchial washings were sent for cytologic analysis, routine cultures, acid-fast bacilli (AFB) culture and fungal culture.
Additional diagnostic evaluation included HIV testing, QuantiFeron TB, hepatitis panel, rapid plasma reagin (RPR), antinuclear antibody (ANA), anti-double stranded DNA (DsDNA) antibody, anti-glomerular basement membrane (GBM) antibody, anti-neutrophil cytoplasmic antibody (ANCA) and complement levels. Results were unremarkable.
Histopathology report of right lower lobe biopsy specimen was normal with no mononuclear infiltration. A brush tip specimen was also obtained from right lower lobe. Moreover, approximately 55 cc of thick pale orange fluid was obtained via bronchial wash of right lower lobe which showed scattered refractile material surrounded by dense neutrophilic and mononuclear infiltration (Fig. 4, Fig. 5). Gomori methenamine silver (GMS) stain for Pneumocystis jirovecii was negative.
The patient's maximum temperature was 100.1 F five days after the admission on antibiotics. The patient's heart rate normalized to 70-90/min and WBC count remained in between 6 and 8 K/muL throughout admission. The patient's chest pain improved over the course of days but mild discomfort with breathing persisted. Blood, respiratory and bronchial wash cultures for bacteria, AFB and fungi remained negative. Because of ongoing concern for bacterial septic emboli, the patient was continued on IV Vancomycin and IV Cefepime for a total of 6 weeks. The patient completed the final 3 weeks of antibiotics at a sub-acute facility. | ntpe, nonthrombotic pulmonary emboli, pwid, patients with injection drug use, septic emboli | Not supported with pagination yet | null |
PMC9641636_01 | Female | 67 | A 67-year-old female patient was admitted to the local hospital because of epigastric pain and discomfort for one month. She was diagnosed as a malignant tumor of the gastric body by electronic gastroscopy and biopsy pathology. The abdominal enhanced CT shows multiple lymph nodes enlargement in the abdominal and retroperitoneum in the outpatient clinic of our hospital ( Figures 1A, B ). The patient received six cycles of chemotherapy in another hospital (SOX regimen for 1 cycle; S-1 and oxaliplatin. Paclitaxel, oxaliplatin, S-1, and Sintilimab for 5 cycles). After the end of chemotherapy, the effect of chmotherapy was evaluated as partial remission (PR). The patient asked for surgical treatment in our hospital. Physical examination showed that the abdomen was flat, the abdominal muscles were soft, the upper abdomen was mild deep tenderness, there was no rebound pain, and there was no obvious abdominal mass. Laboratory results showed that hemoglobin content decreased: 97g/L (normal range 110-150g/L). CA72-4:4.90U/mL (normal range 0-6.9U/mL), AFP: 1.30ng/mL (normal range 0-8.1ng/mL), CEA:1.13ng/mL (normal range 0-10ng/mL), CA199:17.71U/mL (normal range 0-37U/mL), CA125:2.85U/mL (normal range 0-30.2U/mL). There was no significant increase in serum tumor markers. After the end of neoadjuvant chemotherapy, we performed a PET-CT examination for the patient. 18F-FDG PET-CT showed that the mass showed changes after chemotherapy, slight thickening of the lesser curvature of the stomach, the mass did not significantly absorb FDG, and it was found that the left axillary lymph node was enlarged, and the mass uptake of FDG increased slightly, but it was considered as an inflammatory lesion ( Figures 1C ). After multidisciplinary tumor consultation, we decided to perform the radical total gastrectomy on the patient, and regular examination of the enlarged lymph nodes in the left axilla. After obtaining the consent of the patient and her family, the patient underwent radical total gastrectomy (Roux-en-Y digestive tract reconstruction) in August 2021. Postoperative pathology showed that the area of ulcerative gastric cancer was about 4 x 3cm. The main tumor cells were poorly differentiated adenocarcinoma, local invasion of the deep muscular layer of the gastric wall, and tumor cells can be seen in the lymphatic vessels but no definite nerve invasion. Lauren's classification was the diffuse type ( Figure 2A ). Only one of the 21 lymph nodes had metastasis, which was located on the lesser curvature of the gastric wall, and no obvious tumor metastasis was found in the rest of the lymph nodes (ypT2N1M0 IIA). Immunohistochemical staining showed that tumor cells expressed CK8/18, individual cells expressed Syn, and did not express CgA, CD56, SALL4, Oct3/4, C-erb-B-2, and Ki-67 proliferative index was approximately 90%. The patient recovered smoothly without obvious postoperative complications and was discharged 13 days after radical total gastrectomy.
One month after radical total gastrectomy, the patient found that the left axillary mass grew faster than before and was accompanied by the limitation of left upper limb movement. Physical examination showed that the left axillary mass was about 4 x 2cm in size, hard, had an unclear boundary, and had a poor range of motion. Ultrasound examination of the bilateral breast and axilla showed that there was no obvious mass in the bilateral breast, and several hypoechoic lesions were found in the left axilla, the size of which was about 4.3 x 1.9cm, the boundary was clear, the cortex was thickened, the medulla was eccentric and the blood flow signal was abundant ( Figure 3A ). No obvious abnormality was found in mammary gland molybdenum target X-ray ( Figures 3B, C ), mediastinal and supraclavicular enlarged lymph nodes were not found in CT, and no obvious bone metastasis in whole-body bone scintigraphy ( Figure 3D ). The patient underwent the axillary lymph node biopsy in October 2021. During the operation, the enlarged lymph nodes were located next to the axillary vein, fused into clumps, hard texture, and closely combined with the surrounding tissues. Intraoperative frozen sections showed that there were 5 lymph nodes in the left axilla, and all of them had cancer metastasis. After that, we performed radical axillary lymph node dissection and 14 of the 18 lymph nodes had metastases. Pathology showed that the tumor cells were poorly differentiated adenocarcinoma. immunohistochemical staining showed that most of the tumor cells expressed Caudal-type homeobox 2 (CDX2), CK20, GATA binding protein 3 (GATA-3), and a small amount of sequence-binding protein (SATB) 2 and Mucin-5AC (MUC5AC), but no expression of CK7 and TTF-1 was found ( Figures 2B-E ). After communicating with pathologists, considering the immunohistochemical results and the history of gastric cancer, we considered that the left axillary lymph node tumor was metastasized by gastric cancer.
The patient received docetaxel and fluorouracil chemotherapy after radical axillary lymph node dissection, and a progressive increase in CEA, CA19-9, and CA72-4 was found ( Figure 4 ). Three months after the second operation, the MR examination of cervical and thoracic vertebrae due to back pain revealed secondary malignant tumors of the spine, but the patient refused to undergo whole-body bone imaging. CT of the chest and abdomen showed double clavicular and mediastinal enlarged lymph nodes, considering the malignant tumor. But the patient refused any treatment and died 11 months after the second operation. | axillary lymph node metastasis, gastric cancer, immunohistochemical staining, radical total gastrectomy, tumor markers | Not supported with pagination yet | null |
PMC9463015_01 | Female | 58 | A 58-year-old patient presented molar and canine Class II relationships on both sides (Figure 1). Maxillary and mandibular interincisal midlines did not coincide. Clinical intraoral examination showed the maxillary arch quite aligned, with mild rotations of the left incisors. On the other hand, the mandibular arch presented a multibraided fixed retainer bonded to all six anterior teeth with the right canine root lingually torqued. The root was exposed, almost revealing the apex, and the element was not vital. Elements 3.2 and 3.3 resulted retroclined, withdiastemas between elements 3.1-3.2 and 3.2-3.3, a 90 rotation of 3.3. Calculus in the fifth sextant, multiple recessions, and restorations were present.
A cone-beam computed tomography (Orthophos SL 3D, Sirona, Bensheim, Germany) was performed, confirming the former periodontal findings (Figure 2(a)). The root of the right canine was not covered by cortical bone anymore (Figures 2(b) and 2(c)).
Clinicians suggested different solutions to the patient. The first alternative involved the extraction of all lower incisors and the right canine, followed by the placement of dental implants with guided surgery and, finally, a prosthetic rehabilitation. However, this alternative would have not solved the rotation of element 3.3. The second alternative considered every other prosthetic solution without implant placement, but it would have led to treatment failure as extracting lower cuspids would have meant removing the anchor teeth or pillars for the prosthetic rehabilitation. These alternatives were too invasive and radical, in particular, the former alternative could have led to failures and peri-implantitis.
The most conservative solution was fixed orthodontic treatment with multibracket appliance aiming at preserving the affected teeth. This option was the least invasive, but it could have been complex from a biomechanical point of view and challenging for the retrieval of the right canine, with poor prognosis. Consequently, after being informed of all risks and having signed an informed consent, the patient chose to undergo orthodontic treatment only for the lower arch.
The primary objective was to correctly reposition the mandibular right canine, in order to avoid the placement of a dental implant or fixed dental bridge. As the patient requested a noninvasive treatment, it was decided to start fixed orthodontic treatment only on the lower arch.
After the removal of the fixed retainer, periodontal probing, supra and subgingival professional oral hygiene was performed. Periodontal probing and supragingival oral hygiene sessions were repeated if needed for calculus accumulations during all orthodontic treatment. A multibracket treatment was performed with the MTB technique. Brackets (3M Unitek, Monrovia, CA, USA) were bonded from elements 3.5 to 4.5, and molar bands with double tubes (3M Unitek) were cemented to elements 3.6 and 4.6. On the lingual side of molar bands, Wilson 3D lingual tubes (Rocky Mountain Orthodontics, Denver, USA) with vertical insertion were welded. In order to obtain additional torque on the right mandibular canine, a lower second premolar bracket (3M Unitek) was bonded. A 0.012-in NiTi archwire 3M (Figure 3) was ligated. A Wilson 3D sectional archwire (Rocky Mountain Orthodontics) was inserted on element 4.6 (Figures 4(a) and 4(b)) as an additional lingual/apical force became necessary to help the root apex return in the alveolar bone base. Its mesial extremity was placed on the most apical point of the root of the right canine, distant from lingual mucosa. The lingual sectional was removed after three months of treatment. Meanwhile, the following arch sequence was used: 0.014-in NiTi (Figure 5), 0.016-in NiTi, and a 0.019 x 0.025-in NiTi (3M Unitek). Light archwires were used for a long time in order to achieve a good alignment; considering the age of the patient, continuous and light forces were exerted to respect periodontal tissues. Subsequently, a 0.019 x 0.025-in TMA (3M Unitek) was used. Additional torque was progressively added on the right canine for the next three months. Treatment continued with the addition of radicular-vestibular torque on the IV quadrant and an elastic chain (3M Unitek) applied to close spaces.
The multibracket treatment lasted a year and a half. The mandibular right canine was repositioned (Figure 6) and a periodontal examination showed probing pocket depth values of 3 mm. In addition, the general dentist decided to perform root canal treatment of the canine one year after the beginning of orthodontic treatment as the tooth was not vital and not symptomatic. Elements 3.2 and 3.3 were repositioned too, and spaces were closed (Figure 7).
A spring retainer was delivered to the patient (Figure 8). It consisted of an anterior stainless-steel wire with vestibular and lingual resin components. The latter extended to the molars to improve stability.
The patient was visited after 1, 5, 12, and 18 months from the end of the orthodontic treatment. The stability of the results was observed after 18 months (Figure 9). The patient was satisfied by the result of the therapy but was aware that unwanted tooth movement could occur in the upper arch anyway as she excluded every kind of retention. The patient will continue to be under close observation through regular follow-up examinations. | null | Not supported with pagination yet | null |
PMC3736967_01 | Male | 57 | A 57-year-old man had noticed a right chest wall mass lesion for 15 years, but had ignored the lesion in the 5 years before presentation. He was admitted to our hospital without significant symptoms and with no history of tuberculosis. Magnetic resonance imaging (MRI) was performed, and a 5-cm-diameter lesion was found. The signal was isointense on T1-weighted imaging (T1WI) and hyperintense on T2-weighted imaging (T2WI) (Fig. 1). Needle biopsy was performed, and histopathology showed lymphocyte infiltration with no evidence of malignancy. The patient was followed up for the next 7 years, and during that interval he had no significant symptoms.
On MRI after 7 years of follow-up, the primary chest wall mass lesion was without any significant change, but a small subcutaneous mass lesion was found nearby. The MRI signal of this subcutaneous mass was almost identical with the original mass (Fig. 2). Diffusion-weighted imaging (DWI) was performed and both lesions exhibited high signal on DWI and a low apparent diffusion coefficient (ADC) (about 0.5) on the ADC map (Fig. 3). In light of the MRI findings, hypercellular malignant tumors (including melanoma and lymphoma), atheroma, and nodular fasciitis were suspected. Excisional biopsy was not performed since that would make definitive re-excision more extensive due to the contamination of surrounding tissue planes. Therefore an open biopsy of both lesions was performed. The mass lesions were both found to be marginal zone B-cell lymphomas (Fig. 4).
In this case, no other tumors were found, so radiation therapy only (36 Gy/20 French) was given. The patient was discharged, and follow-up found the patient in good condition with no apparent signs of recurrence after 2 years. | mri, marginal zone b-cell lymphoma, chest wall, slow growing | Not supported with pagination yet | null |
PMC5491809_01 | Female | 24 | A 24-year-old woman with UC diagnosed 2 years previously was transferred to our hospital due to a 1-week history of a high-grade fever, bloody diarrhea, frequent bowel movements, and severe pain on the left side of the abdomen. Her UC was not well controlled with an oral 5-ASA therapy, so she was started on IFX in July 2014. She had already received the induction doses as well as 8 maintenance doses at 5 mg/kg, and she had maintained clinical remission for about 1.5 years. The final administration was 8 weeks prior to the start of the above-mentioned symptoms. She had neither history of travel nor any recent exposure with sick individuals, and her medical history was unremarkable except for UC. On a physical examination, the patient was febrile (39.5 C) with mild tachycardia, and an abdominal examination revealed moderate tenderness with hyperactive bowel sounds and mild rebound tenderness in the left side of the abdomen.
Her laboratory examination revealed a decreased albumin of 3.4 (g/dL), elevated C-reactive protein of 8.53 (mg/dL), elevated erythrocyte sedimentation rate of 47.1 (mm), elevated white blood cell count of 124 (102/muL), with 81.0% neutrophils (normal range: 42-77%), hemoglobin within normal limits at 13.0 (g/dL), blood platelet count within normal limits at 29.9 (104/muL), negativity for hepatitis B virus antigen and antibody, negativity for hepatitis C virus antibody, negativity for chlamydia trachomatis antibody, negativity for syphilis, beta-D-glucan within normal limits at <6.0 (pg/mL), negativity for tuberculosis bacterium specific interferon gamma, and negativity for cytomegalovirus antigen. Polymerase chain reaction analyses were negative for both cytomegalovirus and tuberculosis bacterium genes in the colon lesions. No significant pathogens, including bacteria, fungi, viruses, and parasites, were isolated from her blood or were found in the contents of her colon. She tested negative for HIV and human T-lymphotropic virus type (HTLV)-I viruses.
Colonoscopy on admission revealed widespread shallow ulcers in the rectum and coarse mucosa with mucous, pus, and blood in the sigmoid colon (Fig. 1A and B). The mucosal vascular pattern disappeared, and the erythematous mucosa was friable and bled easily. Although there were no active UC findings from the cecum (terminal ileum) to the splenic flexure (Fig. 1C), we found long luminal edematous swelling and multifocal discharge of pus throughout the descending colon (Fig. 1D and E). The mucosa of the descending colon appeared to be nearly intact. Computed tomography immediately after colonoscopy showed a diffusely thickened wall with a narrowed lumen and intramural air-filled abscess cavities and multifocal low-density areas of abscesses (Fig. 2), particularly within the wall of the descending colon. There were no diverticula of the colon, which was confirmed by the prior findings of colonoscopy and computed tomography. Antimicrobial therapy with doripenem hydrate 0.5 g intravenously every 8 h was started, as well as intravenous hyperalimentation. 2 weeks after starting treatment, she became afebrile and pain-free, and her C-reactive protein level was normalized. Oral intake was restarted with an elemental diet, and she was later discharged home after confirmation of the improvement of her condition via colonoscopy (Fig. 3A and B) and computed tomography (Fig. 3C). She is still being followed up at our out-patient department, and both oral and anal administration of 5-ASA have maintained clinical remission of her UC. IFX has not been reintroduced. | abscess, adverse drug event, biologics, ulcerative colitis | Not supported with pagination yet | null |
PMC9282816_01 | Female | 25 | A 25-year-old female presented with the left dull mid-back pain for 3 months' duration. The pain was moderate and radiated to the left breast/precordium. The physical examination just revealed focal tenderness over the inferior angle of the left scapula/7th costovertebral junction, without swelling or erythema.
The patient had a raised erythrocyte sedimentation rate of 40 and C-reactive protein of 6. Serological testing for HIV, hepatitis B, and hepatitis C was all negative.
The anteroposterior X-rays of the thoracic spine showed that the T7 vertebral body was scalloped on the left side, and there erosion of the T7 left pedicle and adjoining rib [Figure 1]. The MR showed; a left-sided T7 enhancing periarticular erosive lesion, marrow edema in the posteromedial portion of the left 7th rib, the left posterolateral portion of the T7 vertebral body, and lateral left T7 pedicle. There was also thickening/ enhancement of the synovium of the left 7th costotransverse joint with enhancing soft tissue elevating the overlying pleura, and abutting the descending aorta [Figure 2]. A CT-guided biopsy was diagnostic for TB; it demonstrated caseous necrosis with epithelioid and Langerhans giant cells [Figure 3]. In addition, GeneXpert detected Mycobacterium tuberculosis that showed sensitivity to both isoniazid and rifampicin.
ATT for the first 4 months included rifampicin, isoniazid, pyrazinamide, and ethambutol (HRZE) (intensive phase). For the next 8 months, the patient received rifampicin and isoniazid (HR) (continuation phase). At follow-up (12 months), the patient showed clinical and radiological signs of healing [Figure 4]. | atypical tb, costotransverse joint, tuberculosis | Not supported with pagination yet | null |
PMC4000300_01 | Male | 35 | A 35-year-old Japanese male presented to the Emergency Department of Okinawa Chubu Hospital with right hemiparesis. He had awakened from sleep with severe, sharp chest pain that was not accompanied by dyspnea. The chest pain subsided within 1 min without treatment, but medical evaluation was sought due to obvious dysarthria and weakness of the right upper and lower limbs. The patient was previously healthy, with no prior hospital admissions, surgeries, medications, or allergies, but bilateral pedal edema had developed 3 months prior to presentation. He had no dyspnea or ambulatory dysfunction and did not seek medical intervention. He worked as a house painter and lived with his wife and children. He had 15 pack-years of exposure to tobacco, and consumed 400 ml of Okinawan spirits nightly. There was no family history of cardiovascular disease, thromboembolism, or chronic kidney disease.
Physical examination revealed that the patient was alert with no distress. He was not obese (BMI 21.4 on admission, when he was edematous), and he was afebrile with a blood pressure of 140/90 mm Hg, a regular pulse of 85 beats/min, and a respiration rate of 25 breaths/min. Oxygen saturation in the room air was 100%. An examination of the head revealed a marked, right-sided facial droop, but was otherwise normal. Carotid upstrokes were symmetric without bruits. The heartbeat was regular without gallops or murmurs, and the lungs were clear; the abdominal examination was also normal. Bilateral pitting edema was present to the knees. There were no rashes or petechiae. Neurological examination revealed intense dysarthria, which made it difficult for him to communicate with others, and right-sided central facial nerve palsy. Both the right arm and leg were at Brunnstrom stage 1, with complete flaccidity and no voluntary movement. Pain and light touch sensation were absent on the right side of his body.
Table 1 contains initial laboratory data. Blood counts revealed leukocytosis and hemoconcentration. Serum albumin was markedly low at 1.8 g/dl. Serum cholesterol, triglyceride, and low-density lipoprotein cholesterol were elevated. The urine protein to creatinine ratio was 7.5 g/g Cr, indicative of high-grade proteinuria. The examination of the urine sediment revealed oval fat bodies, and testing for anti-nuclear antibodies, anti-neutrophil cytoplasmic antibodies, and anti-phospholipid antibodies were all negative. Hepatitis B and C serologies were negative.
Diffusion-weighted magnetic resonance imaging showed high-intensity areas consistent with acute infarction in the left basal ganglia, left corona radiata, and left cerebral cortex (fig. 1). Contrast-enhanced computed tomography of the neck revealed collateral blood flow around a large embolus in the left carotid artery (fig. 2). Ultrasound of the left carotid revealed the embolus without any plaques or ulcers at the vessel wall (fig. 3). There were no aortic dissections, pulmonary emboli, renal vein thromboses, or deep vein thromboses on the computed tomography. A transthoracic echocardiogram showed normal contractility without dilated chambers, valvular disease, vegetations, intraluminal thrombi, or any findings suggesting pulmonary embolism, such as pulmonary hypertension or right ventricular stress.
A presumptive diagnosis of ischemic cerebrovascular accident caused by a left carotid thromboembolism was attributed to a hypercoagulable state due to NS. Because of the lack of any findings of atherosclerosis or plaques at the left carotid, we believed that embolism was more likely than thrombosis. The origin of the embolus was not detected despite a thorough cardiovascular evaluation. Immediate anticoagulation with unfractionated heparin was employed, and the renal biopsy was deferred. Intravenous methylprednisolone was administered empirically at 1,000 mg/day for 3 days, followed by oral prednisone at 60 mg/day. Cyclosporine was added 30 days later in response to persistent nephrotic-range proteinuria (5.5 g/day on the 28th day). The patient was transferred to a rehabilitation hospital 47 days after first admission.
However, the blood examination performed after transfer revealed abnormal liver function on the 74th day from the first admission, the results of which are detailed in table 1. Serological studies and abdominal ultrasound excluded viral hepatitis or biliary obstruction. He was immediately readmitted under suspicion of drug-induced hepatotoxicity. Medications on admission included prednisolone (50 mg/day), warfarin (2.75 mg/day), cyclosporine (70 mg b.i.d.), sulfamethoxazole/trimethoprim (400/80 mg daily), eicosapentaenoic acid (900 mg b.i.d.), atorvastatin (10 mg/day), lansoprazole (30 mg/day), alfacalcidol (0.25 mug/day), andronate (35 mg/week), and calcium lactate (1 g b.i.d.). All medications except for prednisone were subsequently withheld, and warfarin was replaced by intravenous heparin. The liver test results normalized, but they deteriorated upon rechallenge with warfarin.
At this time, heparin therapy was briefly interrupted to permit a renal biopsy to evaluate refractory NS, with hypoalbuminemia (2.1 g/dl) and proteinuria (5.7 g/day). The biopsy showed MN at stage III of the Ehrenreich and Churg classification. Continued anticoagulation was deemed necessary due to severe persistent hypoalbuminemia and the severe cerebrovascular accident. Warfarin appeared to be clinically intolerable due to idiopathic hepatotoxicity despite a negative lymphocyte stimulation test. Intravenous heparin therapy was incompatible with outpatient rehabilitation.
We discussed the indication of dabigatran, the only available novel oral anticoagulant in Japan at that time, with the patient and also with cardiologists, a neurologist, and the vice-principal of our hospital, all of whom were responsible for the prescription of dabigatran, and we decided to initiate treatment. We also explained and discussed the risks and benefits of dabigatran with the patient and obtained his written and informed consent in advance. Oral dabigatran was administered at a dose of 110 mg b.i.d., and MN was treated with oral prednisone and cyclophosphamide according to Jindal's regimen. Proteinuria decreased from a ratio of 5.1 to 1.6 g/g Cr, and serum albumin rose from 2.3 to 3.7 g/dl over 7 months. He was transferred to the rehabilitation hospital 137 days after stroke onset. At the outpatient clinic, his renal function remained stable, and he did not experience any episodes of edema, bleeding, or thromboembolism. We monitored the activated partial thromboplastin time (aPTT) to predict the risk of bleeding due to excessive anticoagulation. The aPTT values taken 4 h following administration of dabigatran in the morning were stable at around 40 s (standard aPTT was 30 s). A carotid echogram performed 2 years after the initiation of dabigatran revealed a reduced embolus, although it did still occlude the internal carotid. | carotid thromboembolism, cerebral infarction, dabigatran, membranous nephropathy, nephrotic syndrome | Not supported with pagination yet | null |
PMC6949674_01 | Female | 24 | In July 2015, a 24-year-old woman was referred to our Department of Internal Medicine for a high fever (39 C) lasting 3 days, fatigue, myalgias, chills, and vomiting. She had been followed since 2008 for primary ITP, initially treated with oral prednisone (1 mg/kg/day), which achieved complete remission. Because of occasional severe relapses (two between 2009 and 2012, with gynecological bleeding), she was subsequently treated with Intravenous Immunoglobulin (IVIg) with good responses. In January 2012, at age 21, she suffered a severe relapse, again justifying the use of IVIg and corticosteroids. At that time, she had detectable autoimmunity with an antinuclear antibody titer of 1 : 250 (anti-SSA specificity but without any sign suggestive of lupus) and platelet-directed anti-glycoprotein IIb/IIIa antibodies. In June 2012 (baseline), a new IVIg cycle was administered, followed by RTX (375 mg/m2 once-a-week for 4 consecutive weeks). A complete platelet response was obtained within 6 weeks and, at the last follow-up (March 2015), her blood platelet level was normal (321 x 109/L) without treatment. Before RTX infusion (June 2012), her blood total gamma-globulin level >3 months before IVIg infusion had been normal (8.9 g/L) but she was lymphopenic (total lymphocytes: 0.513 x 109/L), while her peripheral blood lymphocyte count had been normal at ITP diagnosis (1.199 x 109/L). The previously available phenotype profiles of her peripheral circulating lymphocytes are reported in Table 1. No infection occurred during the 3 years following the last RTX administration and she remained clinically well at biannual consultations in our department.
At admission, in July 2015, at age 24, her temperature was 39.2 C and she complained of lower abdominal pain, vomiting but without diarrhea; her physical examination was normal. Laboratory tests showed elevated C-reactive protein (CRP: 114 mg/L, normal range (NR): <5 mg/L), hepatic cytolysis (aspartate aminotransferase: 144 U/L, NR: 7-40 U/L; alanine aminotransferase: 265 U/L, NR: 5-50 U/L) and cholestasis (alkaline phosphatase: 389 IU/L, NR: 40-130 U/L; gamma-glutamyltranspeptidase: 698 U/L, NR: 5-38 U/L). The hemogram revealed agranulocytosis and thrombocytopenia (leukocytes: 4.9 x 109/L; neutrophils: 0.02 x 109/L; hemoglobin: 14.5 g/dL; platelets: 46 x 109/L). Bone-marrow aspirate showed normal density, several megakaryocytes but hypoplastic granulopoiesis in blocked maturation, without blasts. Computed-tomography (CT) scans of the thorax and abdomen were normal. Once urine and blood samples had been collected, empirical ceftazidime and gentamicin were begun, and achieved apyrexia within 48 h. After 46 h, blood cultures came back positive for Campylobacter jejuni, and the identical strain isolated from the patient's feces; amoxicillin-clavulanic acid (1 g 3 times a day for 2 weeks) was prescribed. Seven days postadmission, CRP, neutrophil and platelet levels returned to normal (3 mg/L, 6.61 x 109/L and 521 x 109/L, respectively); blood cultures were negative; and liver function was improved.
Laboratory evaluation for immunodeficiency yielded: negative serology for human immunodeficiency viruses-1 and -2, very low serum Ig levels (Table 1) and no circulating B cells. Flow-cytometry quantification of T-cell subsets found expansion of circulating CD4+ T lymphocytes expressing surface DR, suggesting their activation; low natural killer cells and CD8+ T-lymphocyte levels. Urine immunofixation electrophoresis was negative. Ig-replacement therapy was started but not pursued by the patient.
Ten months later (May 2016, age 25) she was hospitalized for a 15-day low-grade fever, weight loss, nonproductive cough and progressive dyspnea. CRP, lactate dehydrogenase and beta2-microglobulin levels were 40 mg/L, 340 U/L (NR 5-240 U/L) and 3.53 mg/L (NR 1.2-2.5 mg/L), respectively. As shown in Table 1, hypogammaglobulinemia, CD19+ B lymphopenia and low peripheral CD8+ T-cell count persisted but without T activation, as assessed by HLADR-positivity. CT scans visualized bilateral diffuse infiltrates, ground-glass opacities and large nodules. Bronchoalveolar lavage analysis revealed Pneumocystis jiroveci cysts with positive polymerase chain reaction (PCR) (4,000 copies/mL); high-dose trimethoprim-sulfamethoxazole and corticosteroids were prescribed. Searches for other pathogens, including Mycobacterium tuberculosis, atypical mycobacteria, cytomegalovirus, Cryptococcus and Aspergillus species, were negative. At that time, her bone-marrow biopsy was normal.
Despite appropriate antibiotics and clinical improvement, thoracic CT scans revealed worsened dense infiltrates (Figure 1(a)), pleural effusions, hepatosplenomegaly and nodular lesions of both kidneys (Figure 1(b)). A new bronchoscopy with biopsies found CD20+ large lymphomatous cell infiltration (Figure 2) in bronchi. Those large atypical lymphoid tumor cells were CD10-BCL-6- and MUM1+BCL-2+, with an 80% Ki-67-proliferation index on immunolabeling. EBV, as assessed by in situ hybridization with an EBV-encoded small RNA probe, was diffusely positive in about 80% of tumor cells (Figure 2). The FISH assay for MYC gene rearrangement (MYC FISH DNA Probe, Split Signal, (Y5410), Dako, Locus 8q24) was negative. EBV-positive DLBCL with a nongerminal center phenotype was diagnosed without bone-marrow infiltration. Circulating EBV-DNA was positive (2,430,000 IU/mL). DLBCL treatment consisted of RTX, cyclophosphamide, doxorubicin, vincristine and prednisone. Even with EB viremia becoming negative, she developed fever, cytopenias, liver damage and neurological manifestations, as a consequence of her prominent bone-marrow hemophagocytosis. Unfortunately, she died of multiorgan failure at age 25. | null | Not supported with pagination yet | null |
PMC8081048_01 | Male | 0 | A 2-month-old male infant was admitted to our hospital with a 1 month history of persistent white stools.
The meconium of the child was dark green. Three days later, his stool turned yellow. After that, the stool color gradually became white stool over the next month. The test results of the infant's liver function were: albumin 16.5 g/L, total bilirubin (TB) 35.2 mumol/l, direct bilirubin (DB) 27.7 mumol/l, and total bile acid (TBA) 63.0 mumol/l. The child had taken probiotics and the symptoms did not improve.
The patient had no significant past medical history. And the mother's pregnancy was uneventful.
At the time of admission, the infant's body weight was 3400 g (<3rd percentile) and his height was 60 cm (50-70th percentile). The physical examination revealed hepatomegaly (4 cm below the ribs with soft texture) and pitting edema of both lower limbs. No abnormality was revealed for the consciousness, cardiopulmonary examination, and nervous system examination.
Routine laboratory testing upon admission showed hemoglobin was 63 g/L, packed cell volume 19.9%, normal mean-cell volume, mean cell hemoglobin concentration was at the lower end of normal, and platelets 304 x 109/L. The patient was tested negative for hepatitis A, B, and, C, syphilis, HIV, TORCH, EBV-IgM antibody, and EBV DNA; his thyroid function and blood coagulation function were within the normal range. The patient's blood glucose during admission was normal and blood and urine tandem mass spectrometry showed that the amino acid and acylcarnitine spectrum analysis were normal. Cytomegalovirus IgM test was positive. Liver function tests revealed slightly elevated levels of TB, DB, and gamma-glutamyltransferase (gamma-GT) (shown in Table 1).
The cardiac ultrasound showed no abnormalities. The chest radiograph was normal. Abdominal ultrasound showed hepatosplenomegaly, liver parenchyma echoes, but the gallbladder and pancreas were normal.
In order to differentially diagnose whether there is biliary atresia (BA), we perfected the examination of liver, gallbladder, spleen color Doppler ultrasound, and gallbladder contraction. In order to differentially diagnose cardiogenic edema, we perfected the cardiac color Doppler ultrasound. The infant's parents refused to permit cholangiography and a liver biopsy. Due to the unclear diagnosis, we performed a genetic test. The infant's genetic analysis showed a CFTR hemizygous mutation site (c.223C>T) in exon 3 and exon 2-3 heterozygous deletion mutation. A genetic verification of the infant's parents was also performed; the father had a point mutation and the mother had a CFTR gene exon 2-3 heterozygous deletion mutation (shown in Figure 1). To further verify whether the child had pancreatic exocrine insufficiency, we tested fecal pancreas elastase 1 and the result was 0.6 mug/g, significantly lower than the normal value of 200 mug/g. Stool testing showed fat globules of 70-80/HP. These findings, combined with the manifestations of cholestasis, supported the diagnosis of CF. Because our hospitals and other testing institutions cannot perform a sweat chloride test, we did not perform it.
After hospital admission, the infant was placed on a lactose-free fortified medium-chain fatty acid milk powder feeding, oral ursodeoxycholic acid (UDCA) 30 mg/(kg.d), and supplemented with fat-soluble vitamins A, D, E, and K. The stool color remained unchanged. Fecal pancreas elastase 1 suggested that the child had insufficient pancreatic exocrine function, so aspergillus oryzae pancreatic enzymes tablets (half a tablet once, three times per day) were added 2 weeks after diagnosis. Two weeks after the oral pancreatic enzyme tablets were administered, the color of the infant's stool changed to yellow and his weight increased (shown in Figure 2). | cftr, cystic fibrosis, edema, hypoproteinemia, white stool | Not supported with pagination yet | null |
PMC8081048_02 | Female | 0 | On follow-up, liver function test was performed every 1 month and abdominal ultrasound every 2 months. The oral medication was well-tolerated by the child without adverse reactions. Two months after diagnosing the infant with CF, his TB, DB, and TBA decreased to normal levels (shown in Table 1), but the infant had a cough for 1 month, and his chest CT scan showed he had sacculus expansion of the lungs. The infant's physical examination revealed an enlarged liver (4 cm below the ribs with soft texture) in a 6-month old. Now, he is 1 year old with yellow soft stools, his body weight is 8500 g (3rd percentile), his height is 72 cm (3rd percentile). He has not had a cough for nearly 4 months, but still has an enlarged liver (2 cm below the ribs with soft texture).
Using "cystic fibrosis," "* stool," and "infant*" as keywords, we found three relevant articles in PubMed consisting of a total of four case reports with white stool as the first symptom; one was a domestic case report (seen in Table 2). Including this infant, there are a total of five children (three males and two females) with an average age of 2 months that have presented with white stools and diagnosed with CF. Anemia was present in all five children, edema and hypoproteinemia in four, changes in stool color in five (pistachio-green in two patients, pale colored stool one, acholic stool in one, and white stool in one patient), cholestasis in two patients, delayed meconium discharge in one, delayed growth in three, hepatomegaly in three, and splenomegaly in two infants. One child presented with respiratory symptoms at the onset.
Two children had an abnormal sweat test: one had a F508del compound heterozygous mutation and the other child had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation.
The female infant (the fourth case) died because of a massive pulmonary hemorrhage. The stool changed to yellow in two infants after oral pancreatic enzymes were administered. The prognosis of the male infant (the third case) was good by UDCA and supporting treatment. | cftr, cystic fibrosis, edema, hypoproteinemia, white stool | Not supported with pagination yet | null |
PMC7527615_01 | Male | 11 | An 11-year-old male presented with gradual left breast enlargement for one year duration. Frequently he visited pediatricians and provisionally diagnosed as a case of gynecomastia with reassurance and observation. Past medical, surgical, family and drug history, all were negative.
A firm swelling involving left anterior chest wall elevating the nipple and areolar region. The swelling was ill-defined, non-tender, non-fluctuating, non-illuminating with normal overlying skin. Vital signs were with the normal ranges.
Hematological tests were normal. Ultrasound examination showed a thick wall cystic lesion with internal debris and bone erosion suspecting chronic infection. CT scan of chest revealed a cystic lesion with fluid content measuring 12 x 8 cm in size connecting with a similar cystic lesion in the substernal area through a hole in the fifth rib (Fig. 1, Fig. 2).
Under general anesthesia, in supine position, through anterolateral incision, a thick wall cystic lesion under the skin with a very thick pus content was found connecting to another similar lesion in the anterior mediastinum through a hole in the fifth rib with localized thickening of the pleura. Both of the lesions, the fifth rib with a part of fourth rib and a piece of pleura were resected and sent for histopathological examination which revealed multiple granuloma with caseating material, typical for TB. The wound was closed in layers after insertion of intrathoracic drain (Fig. 3).
The postoperative course was uneventful. The patient was put on anti-TB regular regimen for three months. | chest wall, gynecomastia, tuberculosis | Not supported with pagination yet | null |
PMC8110827_10 | Female | 14 | Because of her missing sucking reflex, feeding was difficult and she developed a severe malnutrition necessitating gastric tube feeding. Furthermore, the patient developed a duodeno-gastro-esophageal reflux disease (Table 1).
Patient II died at the age of 14 months due to a bronchopulmonary infection in the course of which she developed a rapidly decreasing oxygen saturation and an increasing bradycardia.
Whole exome sequencing of patients I and II revealed the homozygous stop mutation c.6016C>T (p.R2006*protein with 2564 aa, Mut. Ex 28 of 36) in the SPTBN4 gene in both patients. Homozygous carrier status was confirmed by Sanger sequencing in both patients.
Heterozygous carrier status of the mother and the healthy sister was confirmed by Sanger sequencing as well.
DNA of the father has been unavailable. | cardiomyopathy, case report, mitochondrial dysfunction, neurodegeneration, psychomotor developmental arrest, ßiv-spectrin deficiency | Not supported with pagination yet | null |
PMC6446130_01 | Male | 23 | A 23-year-old man with a medical history of treated TB presented to the emergency department with hemoptysis for one week. His symptoms started with a dry cough that progressed from blood-tinged sputum to frank blood over three weeks. He had associated fever, chills, night sweats and subjective weight loss. His previous symptoms had completely resolved and he moved to the United States from Nepal one year prior to the hospital admission.
On physical examination, the patient was afebrile, hemodynamically stable with a generalized cachectic appearance and diffuse rhonchi bilaterally on pulmonary auscultation. His labs were notable for a normal leukocyte count, a hemoglobin of 11.7 g/dL, and normal chemistries. The chest x-ray, Fig. 1, had a lucency in the left suprahilar region and bilateral peribronchial thickening of the upper lobes. A follow up CT scan, Fig. 2, showed multiple cavitary lesions at the superior segment of the left lower lobe.
On hospitalization day 2, a microscopic smear of his sputum showed many acid-fast bacilli that was later identify in cultures as Mycobacterium tuberculosis complex. He was started on a 5-drug regimen with rifampin, isoniazid, pyrazinamide, ethambutol and moxifloxacin due to his prior history of possible resistant TB. He continued to have persistent hemoptysis and worsening anemia requiring a transfusion due tachycardia and dyspnea, suggesting massive hemoptysis. Four days after the anti-tuberculosis medication was initiated, he developed respiratory distress and was transferred to the medical intensive care unit and was placed on non-invasive positive pressure ventilation but did not improve. Thus, he underwent an urgent bronchoscopy, revealing a significant burden of blood clots in the left main bronchus that did not allow for a complete survey of the airway. As a result, an endobronchial blocker was placed and the patient was evaluated by interventional radiology. He underwent urgent left bronchial artery angiography with embolization of two abnormally hypertrophied left bronchial arteries.
The following day, he underwent repeat bronchoscopy that showed persistent clot burden in the left main bronchus. Given his active tuberculosis, difficulty with oxygenation, and multiple cavitary lesions, the decision was made to proceed with left lower lobectomy. On gross examination, the lobe of lung was severely congested weighing 645 g (normal weight of a complete left lung: 395 g). There was widespread consolidation with nodules containing caseous material, Fig. 3A. It corresponded to necrotizing nonsuppurative granulomas with a peribronchial and subpleural distribution in a miliary pattern, Fig. 3B. The granulomatous inflammation extended around medium sized vessels causing destruction of the vasa vasorum and secondary obliterative endarteritis, Fig. 3C. Numerous cavities developed in relation to necrotizing granulomas with suppuration and hemorrhage, Fig. 3D. Round foreign particles were deposited in the arterial lumina, consistent with a prior embolization procedure. Intra-alveolar hemorrhage emerged after bleeding into the cavitating granulomas due to destruction of vessel walls, Fig. 3E and F. Few acid-fast organisms consistent with L-shaped mycobacteria were identified on FITE stain, Fig. 3G-I. Other special stains including Kinyoun cold procedure, auramine-rhodamine staining, and mycobacterium immunostaining, were negative for acid fast bacilli.
On hospitalization day 6 the patient's family, who was previously unable to contacted, arrived at the hospital and the team was able to provide additional history regarding his previous TB therapy. He was diagnosed with multidrug resistant (MDR) TB seven years prior to admission and treated for 18 months with rifampin, isoniazid, pyrazinamide, ethambutol, moxifloxacin and an injectable medication, the name of which they could not recall. The following day, the Health Department confirmed fluoroquinolone-resistant tuberculosis by nucleic acid amplification testing (NAAT). Rifampin, isoniazid, and moxifloxacin were discontinued and the patient was started on amikacin, linezolid, meropenem, clavulanate, para-aminosalicylic acid and ethionamide. Bedaquiline was requested from the Centers for Disease Prevention and Control (CDC). After his lobectomy, he required persistent intensive care unit monitoring because he would not tolerate extubation trials along with multiple episodes of mucous plugging, which required multiple bronchoalveolar lavages. He was successfully extubated on hospitalization day 14. The patient was transferred to the regional TB center of Florida on hospitalization day 21.
After an additional two months of being monitored and treated at the regional tuberculosis center, the patient was discharged to the community and continued his treatment under directly observed treatment through the department of health. | cardiothoracic surgery, fluoroquinolone-resistant tuberculosis, infectious diseases, l-form transformation, public health, tuberculosis | Not supported with pagination yet | null |
PMC7218215_01 | Male | 64 | A 64-year old man presented for evaluation of chronic shortness of breath associated with recurrent episodes of lower respiratory tract infections. He also reported two episodes of expectoration of frothy, bloody streaked sputum 3 days ago. He was a never smoker and worked as a constructor and welder. He denied having symptoms of dry eyes or dry mouth. There was a history of arterial hypertension, hypercholesterolemia and gastroesophageal reflux disease. His medication included nifedipine 5mg o.d., nebivolol 2.5mg o.d. and esomeprazole 40mg o.d. There was no family history of lung diseases.
On examination the patient was afebrile, with a heart rate of 63 beats/min, respiratory rate of 12 breaths/min, BP of 130/70 mm Hg and oxygen saturation of 97% on ambient air. Chest auscultation revealed expiratory wheezing. There were also multiple whitish papules in the face, nose and retroauricular area (Fig. 1). According to the patient they were attributed to his welding history and were considered a manifestation of allergic/photosensitive dermatitis. The rest of the physical examination was normal.
Complete blood count (CBC) revealed a mild increase in eosinophils (420/mm3). Rest of CBC and metabolic panel were within normal limits. Pulmonary function test revealed an obstructive pattern with significant bronchodilator reversibility: FEV1/FVC ratio was of 69%. FEV1 pre bronchodilation was 2.82 lt (81% predicted), FVC was 4.09 lt (100% predicted) and FEV1 post bronchodilation was 3.28 lt (+460ml, +16.3%). DLco and TLC were within normal limits, 88% and 94% predicted respectively. Chest X-Ray was reported as normal but because of the history of hemoptysis multidetector Computed Tomography (MDCT) of the thorax was performed. It revealed multiple lung cysts with lower lung predominance. Some cysts appeared to be septated, elliptical and the majority of them were located in the subpleural and paramediastinal region (Fig. 2). Due to the reported hemoptysis bronchoscopy with BAL was performed. Airways were patent and there were no signs of active or recent hemorrhage. BAL revealed 74% macrophages, 21% lymphocytes, 1% eosinophils and 4% neutrophils. Cultures were negative for common pathogens, fungi, Mycobacterium Tuberculosis and Nontuberculous Mycobacteria.
The combination of isolated diffuse cystic lung disease (with the aforementioned morphological and distribution characteristics) and skin findings raised suspicion of BHDS. Biopsy of the skin lesions revealed follicular epithelium proliferation surrounded by perifollicular fibrous sheaths, diagnostic of fibrofolliculomas (Fig. 3). Thus, the diagnosis of BHDS was established. | null | Not supported with pagination yet | null |
PMC8010170_01 | Male | 35 | A 35-year-old male presented with diarrhea and abdominal pain after eating seafood and drinking 5 months before admission. The abdominal pain could be relieved after defecation. Two weeks later, he began to have a fever, up to 39.8 C, accompanied by chills. He was admitted to the local hospital and broad spectrum antibacterial drugs were started empirically. Despite antibiotics, the fever continued to occur repeatedly, in peaks up to 41 C, and the diarrhea persisted. Then the patient was suggested to be transferred to our institution.
Laboratory tests showed leukocytosis (20.79 x 109/L), moderate anemia (69 g/L), increased percent of neutrophils (91.6%), increased C-reactive protein (CRP) (80.90 mg/L), procalcitonin (PCT) (5.87 ng/ml) and erythrocyte sedimentation rate (ESR) (106.0 mm/h) level, and mild hypoalbuminemia (31.0 g/L). Stool routine revealed Leukocyte ++++/HP, pus cell ++++/HP, stool blood was positive. Amoeba cysts were found after repeated stool examinations, but no trophozoites. Blood cultures, HBV, CMV-DNA, TORCH-IgM, G/GM, TB-IGRA, parasite antibody were negative. The plasma biochemistry of liver and kidney functions were normal. A total of three colonoscopes and biopsies were performed for the patient, and the results showed multiple irregular ulcers in the whole colon (Figure 1). Colonic biopsies diagnosed Epstein-barr virus-associated lymphoproliferative disorder, but the sample was inadequate for definitive diagnosis. Bone marrow examination showed the proliferation of hematopoietic cells were active, mainly granulocytes, and immature granulocytes increased. Findings of CT images of chest and neck were normal. Contrast-enhanced CT scan of the whole abdomen revealed multi-segmental intestinal wall thickening and enhancement (Figure 2A). 18F-FDG PET/CT demonstrated increased FDG uptake in the whole colon, bone marrow and spleen (Figure 3).
Treatment of the patient was provided with anti-infective (moxifloxacin, rifaximin, metronidazole and imipenem, vancomycin, and cefperazone-sulbactam, tigecycline were given successively). However, he still had diarrhea and recurrent fever, the body temperature fluctuated at 39-40 C. Blood cultures were still negative. No positive bacilli was found by acid fast staining and no DNA fragment of Mycobacterium tuberculosis was found by qPCR. During the hospitalization, the patient developed a fierce abdominal pain, CT indicated gastrointestinal perforation (Figure 2B). An emergency surgery was performed. During surgery, it was found that there were two 0.5 cm breaks in the ileocecal junction, a 3 cm break in the descending colon, three perforation holes of varying sizes were seen in the sigmoid colon with a diameter of about 0.5-1 cm, and three 0.5-4 cm breaks in the upper rectal segment 3 cm from the peritoneal reflection. The intestinal wall around the breaks was edematous and congestive. He underwent total colectomy and enterostomy. ENKTL was diagnosed for pathological diagnosis of surgical samples. Histologically, the tumor cells were medium in size with irregular nuclei (Figure 4B). There were mixed inflammatory infiltrated mainly including lymphocytes and plasmacytes. The tumor cells infiltrated the whole wall of the intestinal wall with ulcer, necrosis (Figure 4A). Immunohistochemical staining showed that CD3, CD2, CD43, granzyme B (GB), TIA-1 were positive, while CD20, CD5, CD7, CD4, CD8, CD56 were negative (Figures 4B-G). CD30 was focally positive. The Ki-67 labeling index was 60% (Figure 4I). EBV-encoded small RNA (EBER) analysis showed positive (Figure 4H). Gene rearrangement test found the low amplification peak of TR gene.
After recovering from surgery, the patient was treated with two courses of etoposide 50 mg and dexamethasone 5 mg (ED) regimen. Gemcitabine was added on the third day of the second course of therapy. Two weeks later, PD-1 monoclonal antibody 100 mg was used to replace ED regimen because his general condition and the expected chemotherapy tolerance were poor (A total of 3 times, each interval of 3 weeks). Fortunately, the patient was discharged the next day after the last treatment with PD-1 monoclonal antibody. By the time he was discharged from the hospital, his general condition improved significantly. PD-1 monoclonal antibody 100 mg was used on day 23, 56, 85 after discharged. To date, the patient has treated with a total of six courses of PD-1 monoclonal antibody. Eleven months follow-up was uneventful. | intestinal neoplasm, nk/t cell lymphoma, extranodal, non-hodgkin lymphoma, perforation | Not supported with pagination yet | null |
PMC4367057_01 | Female | 27 | A 27-year-old unbooked G3P1L1A1 at 39 weeks 5 days of gestational age with previous one live vaginal birth and one first trimester spontaneous abortion was admitted in the labor room with pain in the abdomen. She had no history of prior antenatal care and belonged to a tribal community with lower socioeconomic status. There was history of tobacco use both before and during pregnancy. She was otherwise healthy with no known history of genetic or congenital anomaly in her family.
On examination, she was observed to be in the second stage of labor with cephalic presentation and regular fetal heart rate. She delivered a term 2.5 kg baby with multiple congenital anomalies. The Apgar score was 3 at 1' and 0 at 5 min. The baby died within 30 min postbirth in spite of resuscitation attempts by neonatologist. On physical examination, the infant showed narrow chest, bilateral hypoplastic thumb, fused lower limbs with a single foot and 5 toes, absent external genitalia, imperforate anus and umbilical cord with single umbilical artery [Figure 1]. There were also prominent epicanthal folds, hypertelorism, downward curved nose, receding chin, low-set soft dysplastic ears and small slit-like mouth suggestive of Potter's facies [Figure 2]. Autopsy was declined by the parents. Intrapartum and the postpartum period of mother was uneventful. | caudal regression syndrome, potter's facies, mermaid syndrome, sirenomelia | Not supported with pagination yet | null |
PMC4367057_02 | Unknown | 34 | A preterm baby weighing 1.6 kg was delivered vaginally at 34 weeks gestation by a 23-year-old primigravida with an unsupervised pregnancy. Postpartum investigation revealed the presence of diabetes mellitus. There was no history of drug intake and radiation exposure. The Apgar score was 3 at 1' and same at 5 min following which the baby was shifted to neonatal intensive care unit, but died 12 h postbirth due to severe respiratory distress. There was very scanty amniotic fluid drained at the time of delivery. The new born baby had gross anomalies like narrow chest indicating lung hypoplasia, fused both lower limbs and feet with 10 toes, absence of external genitalia, imperforate anus and single umbilical artery [Figures 3 and 4]. Examination of the fused lower limbs showed the presence of all thigh and leg bones thus classifying our patient as Type I of Stocker and Heifetz classification. The infant also had features of Potter's facies including prominent infraorbital folds, small slit-like mouth, receding chin, downward curved nose, and low-set ears. Ultrasonography revealed bilateral renal agenesis. On autopsy, there was an absence of both kidneys, ureters, urinary bladder, seminal vesicle, and urethra. The gastrointestinal system ended in a blind loop at the rectosigmoid area and was filled with meconium. Two pea sized gonads suggestive of testes were seen bilaterally posterior to pubis. Right pneumothorax with collapsed right lung was evident. Examination of brain, heart, liver, adrenal glands, and pancreas revealed normal anatomy. | caudal regression syndrome, potter's facies, mermaid syndrome, sirenomelia | Not supported with pagination yet | null |
PMC7876995_01 | Male | 60 | A 60 years-old Caucasian male came to emergency room with diffuse abdominal pain, leukocytosis on blood tests (WBC 19 x 103/mmc) and increased C-reactive protein (120 mg/L). The patient suffered from hypertension and he had a medical history of previous appendectomy and repair of umbilical hernia. Family history was negative for other diseases. He underwent an urgent contrast enhanced CT abdominal scan that showed a dilated stomach with hyperdense material of hematic nature in the lumen. At the level of the pyloric portion we found irregularly thickened walls associated with a small fluid collection and bubbles of free air (Fig. 1). These radiological and clinical findings appeared compatible with diagnosis of complicated peptic ulcer with covered perforation. Because of the worsening of the patient's clinical condition, we carried out an emergency surgery with distal gastrectomy for the large diameter and position of perforation. The procedure was performed by a young surgeon in urgent setting. We decided for a laparoscopic approach with pneumoperitoneum via trans-umbilical open Hasson technique. We used a 12-mm trocar in the left hypochondrium and other two 5-mm trocars respectively in the right flank and in xiphoid region. On exploratory laparoscopy we found a large perforation (about 5 cm of size) in the first duodenum portion (Fig. 2). We converted the procedure to open surgery in consideration of the extension and position of the lesion that did not allow us to continue safely in laparoscopy. We achieved a distal gastrectomy with Roux-en-Y side-to-side gastro-jejunostomy. The patients were satisfied with the treatment received, the postoperative course was uneventful and the patient was discharged on POD 7. The intraoperative findings appeared to be not unequivocal, configuring on the one hand the hypothesis of perforation on a large peptic ulcer or on a chronic pancreatitic process but we could not exclude the presence of a neoplasm by a gastro-duodenal origin. The histopathological examination described, 2 cm from the distal pyloric margin and in the context of the pyloric type mucosa, a centimetric neoformation with histological and immunophenotypic characteristics of well-differentiated neuroendocrine tumor (NET G.1 s. WHO 2019 classification, Synaptofisina + and Chromogranina +). In the adjacent mucosa we saw multiple erosion/ulceration phenomena, with bleeding spillage and vascular congestion. The gastric wall was all affected by outbreaks of chronic inflammation, sometimes in follicular aggregation and with fibrosis also extended to the subserosa. These aspects, in relation to the presence of a NET G1 and multiple erosive/ulcerative areas near the pyloric margin, were suggestive of a clinical picture of Zollinger Ellison syndrome. | emergency surgery, exploratory laparoscopy, gastric net, gastric perforation | Not supported with pagination yet | null |
PMC10368104_01 | Male | 25 | A 25-year-old previously healthy man was admitted to a local hospital for progressive hypersomnolence preceded by 1 week of fever and 2 days of headache. General convulsions developed the next day after admission, therefore, he was transferred to our hospital. On examination, his body temperature was 38.6 C, blood pressure 143/94 mm Hg, and he was in a stuporous status with prominent nuchal rigidity and bilateral rales on chest auscultation. His chest X-ray showed patchy consolidation over the right lower lung zone (shown in Fig. 1). The initial brain MRI showed prominent leptomeningeal enhancement at bilateral brainstem, cerebellum, and right cerebral sulci (shown in Fig. 2a, b) and a non-enhanced oval shape lesion at the SCC with increased signals in diffusion-weighted imaging (DWI), low signals in apparent diffusion coefficient (ADC), and hyperintensity in T2-weighted fluid-attenuated inversion recovery (T2-FLAIR) (shown in Fig. 3a-d). The cerebrospinal fluid (CSF) analysis revealed turbid appearance, significantly high pressure (420 mmH2O), lymphocyte-predominant pleocytosis (white blood cells 148/muL, lymphocytes 95/muL), reduced glucose (43 mg/dL), and elevated protein (519 mg/dL). The biochemistry assay was all normal, including sodium, which was 136 mmol/L. The CSF pathogen studies were negative in bacteria, syphilis, fungus, tuberculosis, and virus via multiple polymerase chain reaction (FilmArray Meningitis/Encephalitis). The viral serology surveys including varicella zoster virus, herpes simplex virus, cytomegalovirus, and Japanese encephalitis virus were also negative. Serology detection for M. pneumoniae using rapid immunochromatographic test (Biocard M. penunoniae IgM kit, Labsystems Diagnostics, Finland) showed IgM positive at a titer of 1:320 (normal value <1:40) on the 2nd admission day, indicating an acute M. pneumoniae infection. Neither polymerase chain reaction analysis nor antibody detection of M. pneumoniae in the CSF was available in our hospital. He was treated with empirical antibiotics, antiviral agents, antiseizure medications, osmotic diuretics, and steroids. Resolution of the pneumonic patch was noted in the subsequent chest X-ray. The repeated CSF analysis 10 days later showed improvement, with a white cell count of 1/muL and a normal protein level at 13.2 mg/dL. However, his neurological condition deteriorated into a comatose state with full-dilated unreactive pupils, flaccid quadriplegia, and ventilator support. The follow-up MRI 3 weeks after admission revealed apparent regression of the leptomeningeal inflammation (shown in Fig. 2c, d), but emergence of symmetric confluent hyperintensities on T2-weighted fluid-attenuated inversion recovery images involving the whole corpus callosum, bilateral internal capsules, and adjacent subcortical areas were without enhancement (shown in Fig. 3e-g). The extensive and symmetric white matter changes on the MRI did not conform to the typical findings in ADEM. Moreover, a nerve conduction velocity study disclosed severe amplitude reduction of compound muscle action potentials and mild reduction in sensory action potentials, compatible with a critical-illness polyneuropathy. Under the presumption of extensive inflammation affecting the central nervous system, we tried immunotherapies with intravenous methylprednisolone pulse therapy and intravenous immunoglobulin successively. His pupil responses recovered rapidly 2 days after completing the immunotherapies, and the consciousness and brainstem reflexes improved gradually within 2 weeks. The ventilator-support was weaned off successfully. The follow-up MRI on the 44th and the 79th admission day displayed continuing regression of the cytotoxic change in the corpus callosum and the white matter (shown in Fig. 3h-m). Three months after admission, he was discharged to a rehabilitation institution with clear consciousness and paraplegia. Six months after discharge, he could speak, eat, and move his upper limbs without efforts but still continued his rehabilitation for the moderate paraparesis. | cytotoxic lesions of the corpus callosum, immunotherapy, meningoencephalitis, mycoplasma pneumoniae, splenial lesion | Not supported with pagination yet | null |
PMC4242899_01 | Female | 71 | A 71 year-old woman had intermittent pyrexia (>38 C) for 1 week in May 2009. Her family doctor treated her with a course of antibiotics to no effect. Computed tomography (CT), cardiac ultrasonography, and tuberculosis skin test detected no abnormalities. General malaise gradually developed, and hemoglobin (Hb) level fell from 10.2 g/dL to 9.0 g/dL over 2 weeks. She was admitted to our hospital as a case of fever of unknown origin. On admission, pyrexia was the only abnormality on vital signs. She was taking no medications other than verapamil and digoxin for paroxysmal supraventricular tachycardia. Meticulous physical examination detected anemic conjunctivae and edema of the bilateral lower extremities. No skin lesions, palpable lymph nodes, or neurological abnormalities were evident. Laboratory findings showed anemia (Hb, 8.8 g/dL) and elevated levels of lactate dehydrogenase (454 IU/L) and soluble interleukin-2 receptor (sIL2-R, 6,030 U/mL). Commonly used autoantibodies and tumor markers for assessment of collagen diseases and cancers were all negative. CT scan revealed no lymphadenopathy, hepatosplenomegaly, or abnormal lung lesions. Gallium scintigraphy showed no abnormal accumulations. Brain magnetic resonance imaging (MRI) revealed a non-enhancing, high-intensity area of 17 mm in diameter in the pons on T2- and diffusion-weighted imaging (Figure 1A and B); however, no abnormal neurological signs were observed. Cerebrospinal fluid examination likewise found no abnormalities. Based on the high sIL2-R level, IVLBCL was suspected. A bone marrow biopsy showed a normocellular marrow with no apparent lymphoma cells. Genetic analysis of the bone marrow specimen showed no clonal rearrangement of T-cell receptor Cbeta1 or the immunoglobulin heavy chain JH region gene. We took healthy-appearing skin randomly from the forearm, lower abdomen, and thigh for biopsy although no skin lesions were observed. All specimens revealed large B lymphoma cells within small veins and capillaries of the subcutaneous fat tissues but not outside the vessels (Figure 2A and B). Immunohistochemical studies showed that lymphoma cells were positive for CD20 (Figure 3), a B-cell marker, and negative for CD3, a T-cell marker. Based on these findings, a diagnosis of IVLBCL was made. The patient's poor general condition required a less toxic regimen, thus conventional R-CHOP therapy, consisting of rituximab (375 mg/m2), cyclophosphamide (750 mg/m2), doxorubicin (50 mg/m2), vincristine (1.4 mg/m2), and prednisolone (60 mg/m2), was started within 1 month of initial symptoms. After the first lumbar puncture for spinal fluid examination, the patient did not accept repeating it due to its invasiveness. For this reason, we treated the patient without any intrathecal treatment. After the first cycle of systemic chemotherapy, the patient had resolution of fever and peripheral edema, as well as improvement in Hb, lactate dehydrogenase, and sIL2-R levels. After eight cycles of R-CHOP therapy, the pontine lesion had completely disappeared (Figure 4A and B). Therefore, the asymptomatic reversible pontine lesion was considered as IVLBCL involvement. During follow-up, the value of sIL2-R had been within reference range. Currently at 5 years after diagnosis, the patient has been doing well with no recurrence and returned to work without any neurological disorders. | cns involvement, blood–brain barrier, intravascular large b-cell lymphoma, random skin biopsy, rituximab, verapamil | Not supported with pagination yet | null |
PMC9133385_01 | Female | 62 | A 62-year-old woman was admitted to the neurology department of Tianjin Huanhu Hospital. The patient complained of paroxysmal falls accompanied by impaired consciousness for the last nine days and paroxysmal limb twitch accompanied by gibberish speech for four days. Initially, the patient experienced tonic-clonic seizures, accompanied by impaired consciousness. Later, the patient experienced tonic seizures with head turning to the right and retained consciousness similar to faciobrachial dystonic seizures (FBDS) (Supplementary Materials S1). These incidences occurred more than ten times in a day. The patient was first seen in another hospital, and a brain MRI was done. The MRI showed no abnormalities. The patient was started on sodium valproate, diazepam, and levetiracetam (drug doses unknown). Due to no clinical improvement, the patient was referred for further management. The patient had no previous history of hypertension, coronary heart disease, diabetes, cerebrovascular disease, mental illness, hepatitis, tuberculosis, and no family history of any hereditary disease.
On admission, the patient had a body temperature of 36.3 C, a heart rate of 91 beats/min, a respiratory rate of 20 breaths/min, and a blood pressure of 162/85 mmHg. The neurological assessment revealed that the patient had cognitive dysfunction (poor memory and poor calculation ability). However, other categories of the neurological examination, including cranial nerves, motor system, reflexes, sensation, coordination, movement, gait, and signs of meningeal irritation, were normal.
The serum testing of routine blood tests, coagulation profile, liver function and kidney function tests, blood sugars, lipid profile, and serological testing for hepatitis B, syphilis, and HIV were negative. In addition, the results of anti-nuclear antibodies, antineutrophil cytoplasmic antibodies, rheumatoid factors, thyroid-stimulating hormone receptor antibodies, anti-thyroglobulin antibodies, and serum tumor markers, including carcinoembryonic antigen, squamous cell carcinoma antigen, cytokeratin-19 fragment, carbohydrate antigen 199, carbohydrate antigen 125, and neuron-specific enolase were normal. The patient had abnormal serum chloride levels of 95mmol/L. Further, the serum AE-related antibodies determined with both tissue-based and cell-based indirect immunofluorescence (IIF) assay in V-Medical Laboratory (Guangzhou, China), including anti-N-methyl-D-aspartate receptor (NMDAR), anti-leucine-rich glioma-inactivated 1 (LGI1), anti-contactin-associated protein-like 2 (CASPR2), anti-gamma-aminobutyric-acid B receptor (GABABR), anti-dipeptidyl-peptidase-like protein-6 (DPPX), and anti-glutamic acid decarboxylase 65 (GAD65) and paraneoplastic neurological syndrome (PNS)-related antibodies including anti-Hu, anti-Ri, anti-Yo, anti-Ma2, anti-CV2, and anti-amphiphysin, was remarkable only for positive anti-LGI1 antibody with a titer of 1:16 (normal <1:10). The CSF showed slight leukocytosis of 10 x 106 / L with lymphocytic predominance. However, the pressure, color, turbidity, glucose levels, chloride levels, Gram staining, acid-fast staining, ink staining, metagenomic next-generation sequencing (mNGS), AE-related antibodies which were also determined with both tissue-based and cell-based IIF assay in V-Medical Laboratory (Guangzhou, China), and PNS-related antibodies of the CSF were normal. The patient had a positive RPR with a serum titer of 1:16 and a positive TPPA. Subsequently, TPPA and RPR in CSF were tested, and both results were positive.
The electroencephalography (EEG)showed irregular slow waves with medium to high amplitudes in the right temporal lobe, which spread to the other lobes and showed sharp waves (Figure 1). The brain MRI showed increased signals on T2-weighted and FLAIR imaging in the medial temporal lobe (Figure 2A). The gadolinium-enhanced MRI of the brain showed mild to moderate cord enhancement in the right temporal lobe (Figure 2B). Syphilis can cause multiple system damage. Therefore, magnetic resonance angiography (MRA) was carried out to investigate vascular stenosis or vasculitis-like changes. However, the results revealed no abnormalities (Figure 2C). Moreover, CT of the chest, echocardiography, abdominal ultrasound, urinary tract ultrasound, electromyography, and nerve conduction velocities of the limbs were normal.
Therefore, uncertainty arose as to whether the patient had both anti-LGI1 encephalitis and NS or whether the LGI1 antibody and LE manifestations were due to the NS. The patient received intravenous penicillin sodium 3.5 million units every 4 h for 14 days to treat the NS. Furthermore, the patient was initiated on intravenous sodium valproate 400 mg two times daily and oral levetiracetam 500 mg two times daily. The drugs were then changed to oral sodium valproate 500 mg two times daily and oral levetiracetam 750 mg two times daily. Improvement was noted with no convulsions and normal cognitive function. Two months later, the serum TPPA was still positive. In addition, the serum RPR was still positive with a titer of 1:8, while the serum LGI1 antibody was positive with a titer of 1:10. Furthermore, a revaluation of the CSF showed that the CSF TPPA and RPR were positive. However, the other CSF tests remained negative. In addition, a repeat of the EEG showed no epileptiform wave emission (Figure 3). Moreover, a repeat of the brain MRI showed no abnormality (Figure 2D). A second course of intravenous penicillin G sodium 3.2 million units every 4 h for 14 days was started. After another four months, the serum TPPA was still positive, the serum RPR test was positive with a titer of 1:8, while the serum LGI1 antibody was negative. Changes in TPPA, RPR, and LGI1 antibodies during the syphilitic treatment are shown in Figure 4. A repeat of the EEG and brain MRI showed normal findings. The third course of intravenous penicillin G sodium 3.2 million units every four hours, was given for 14 days. In addition, oral doses of sodium valproate 500 mg two times daily and levetiracetam 750 mg two times daily were continued. The patient was then followed up for additional three months. The patient reported no further convulsive episodes. In addition, the memory and calculation ability were noted to be normal. | case report, encephalitis, leucine-rich glioma inactivated 1 protein, neurosyphilis, penicillin | Not supported with pagination yet | null |
PMC9852504_01 | Male | 54 | A 54-year-old male, a ceramic worker with no previous history of immune dysfunction, was admitted to the hospital with persistent fever for 19 days. The patient had a cough occasionally and joint soreness but denied any other symptoms. On initial clinical evaluation, the patient's body temperature was 38.4 C, and other signs were within normal limits. Pulmonary, abdominal, cardiac, and neurologic examinations showed unremarkable findings. Laboratory tests revealed that the patient had leukocytosis (20.72 x 109/ml) with 87.4% neutrophils. His C-reactive protein level was high (90.61 mg/L), and a procalcitonin level was slightly increased (0.173 ng/ml). Contrast-enhanced chest CT revealed a large mediastinal mass measuring approximately 7.76 x 4.55 cm (Figure 1A). The rest of the examination was regular.
At initial admission, the patient was treated with empiric antibiotic therapy, including piperacillin and sulbactam. However, he still had a recurrent fever, and there was no significant improvement in inflammatory indicators and blood routine examination. To determine the etiology, the patient underwent Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) on the fifth day of admission. The Virtual bronchoscopic navigation (VBN) system is a method to guide the bronchoscope to the lesion by making a bronchial path on a virtual image. The digitized information from the patient's CT scan was imported into the Archimedes VBN system, in which multislice views of the chest and virtual bronchoscopy images were reconstructed. The VBN system shows the bronchial tree, the anatomical structure of the mediastinal mass and visualizes the best path to reach the mediastinal mass (Figures 2A-E). With the guidance of the VBN system, the bronchoscope was navigated to the target bronchus and advanced to the lesion, and then EBUS-TBNA was performed to obtain purulent exudate (Figures 3A-D). Biopsy showed more purulent secretions and a few lymphocytes and macrophages (Figure 4A). Microscopic analysis revealed numerous weakly acid-fast and branching filamentous rod bacteria were identified from the samples on the aspirate smear, and a presumptive microbiological diagnosis (Nocardia) was made (Figure 4B). Metagenomic next-generation sequencing (mNGS) subsequently identified the pathogens as Nocardia species (Nocardia arizonensis and Nocardia cyriacigeorgica). And after seven days of culture, the cultures of purulent exudates ultimately grew the Nocardia species (Figure 4C).
After microscopic examination and mNGS confirmed Nocardia, intravenous imipenem/amikacin was given. The clinical symptoms of the patient were significantly improved after 6 days of treatment. Then he was switched to intravenous imipenem with oral trimethoprim/sulfamethoxazole (TMP/SMX, 80 mg of TMP, and 400 mg of SMZ/tablet) 3 tablets q6h. One month after treatment, the patient improved, and their Chest CT showed a decrease in the size of the mediastinal mass (Figure 1B). He was discharged and continued to be treated with oral TMP/SMX 3 tablets q8h and sodium bicarbonate for 3 months. Over the next 3 months, he continued on oral TMP/SMX 2 tablets q8h and sodium bicarbonate. After six months of treatment, the patient was asymptomatic. His CT showed significant improvement in the mediastinal mass size (Figure 1C). At one and a half years of follow-up, the patient recovered well, and no complications were noted (Figure 1D). | ebus-tbna, mngs, mediastinal mass, nocardia, weakly acid-fast stain | Not supported with pagination yet | null |
PMC5648305_01 | Male | 66 | Written consent was obtained from the patient for the publication of his case and images. A 66-year-old Indian male patient presented to the Tuberculosis Control Unit after sudden onset of near syncope, nausea, diaphoresis, light-headedness, and a wide-staring gaze with upward and lateral deviation of eyes 30 minutes after consuming newly-prescribed RHEZ. These symptoms resolved on the administration of diphenhydramine 25 mg intravenously at the Emergency Department. The patient was referred, initially, to the Department of Rheumatology, Allergy and Immunology based on the suspicion of a reaction to RHEZ. A diagnosis of anaphylaxis-like and possibly idiosyncratic reaction to rifampicin was made.
On further questioning by the primary team, the patient reported that while he was aware of his surroundings and was able to hear conversations around him, he felt "physical blocked" in that he was unable to respond with purposeful voluntary movements or speech; he additionally described abdominal discomfort and generalized weakness.
The patient had just been prescribed daily rifampicin 600 mg, isoniazid 300 mg, ethambutol 1.6 g, pyrazinamide 1.75 g (i.e., standard RHEZ combination therapy for TB of uncertain origin and resistance, according to his weight of 98.3 kg) and pyridoxine 10 mg after increased nodular opacities in the left upper zone were observed on sequential chest X-rays (Figures 1 and 2), suggestive of granulomata. A small calcified pleural plaque was also noted. Blood cultures, sputum cultures, and Mycobacterium tuberculosis polymerase chain reaction were negative.
On his initial presentation after the near syncope, the patient's vitals were stable and physical examination, including neurological examination, did not reveal any conclusive findings. A full blood count, liver function test, thyroid function test, drug screen, troponin I, electrocardiogram (Figure 3), and a two-dimensional echocardiography were performed.
However, the diagnosis was subsequently changed to OGC based on the more complete history recorded. Another possible cause of OGC would include trauma. However, the patient did not suffer from any trauma recently. | adverse drug reaction, ethambutol, isoniazid, oculogyric crisis, rifampicin, tuberculosis | Not supported with pagination yet | null |
PMC8605226_01 | Male | 0 | A-3 months-old-boy presented with severe malnutrition, known cholestatic jaundice diagnosed as congenital cytomegalovirus infection and contact of his father who was diagnosed with MDR-TB but was not compliant with his treatment. His tuberculin skin test was positive, chest radiograph revealed right perihilar infiltrate and X-pert MTB/RIF on gastric aspirate was positive for M. tuberculosis complex with resistance to rifampicin. Other baseline investigations revealed a small atrial septal defect on echocardiography, mild to moderate hearing loss on audiology, normal vision and retinas on ophthalmological evaluation, raised bilirubin and liver enzymes (alanine and aspartate transaminases) and positive cytomegalovirus (CMV) IgM with a negative CMV PCR. He was HIV-unexposed and his HIV ELISA was negative, but CD4% was low (19%). Culture of the gastric aspirate eventually was positive, confirming M. tuberculosis resistant to isoniazid and rifampicin on line-probe assay as well as resistant to second-line injectable agents with second-line LPA, but susceptible to the fluoroquinolones. He was therefore confirmed as pre-XDR-TB. The mother's sputum was X-pert MTB/RIF negative. The chest x-ray showed active tuberculosis with infiltrates at the right upper-middle lung field with an increased of bronchovascular marking (Fig. 1). We treated him with five kind of less hepatotoxic anti tuberculosis drugs by individualized treatment based on the updated WHO 2018 guidelines. He commenced the treatment with moxifloxacin (10 mg/kg/day divided in tow dose), linezolid (10 mg/kg/day once daily), cycloserin (10 mg/kg/day once daily), ethambutol (20 mg/kg/day once daily) and para-aminosalysilic acid (200 mg/kg/day divided in two dose). After seven days receiving the pre- XDR-TB treatment, the liver enzymes improved, no adverse reaction such as vomiting, dhiarrea was reported. He also recieved gancyclovir for the CMV infection. He was followed every one month, he shows weight increment to 5.8 kg from 3.6 kg in 3 months and increased gradually every month. His nutritional status improved to normal from severe malnutrition after 20 months of treatment. No adverse reaction such as vomiting nor dhiarrea was reported. The growth and milestones development were appropriate. Laboratory evaluation showed improvement of liver function. Hematologic and neurologic (peripheral and toxic optic neuropathy) adverse effects were monitored during linezolid treatment. No anemia nor thrombocytopenia was found. For the optic toxic neuropathy evaluation, normal vision was concluded through examination of response to light, pupil response, ability to follow a target and ophthalmoscopy examination of the retina was also done to exclude CMV retinitis symptom and the result was normal. The M.tuberculosis culture evaluation result was negative on the first and third month of treatment. | case report, children, pre-extensively drug resistant tuberculosis | Not supported with pagination yet | null |
PMC8605226_02 | Female | 14 | A-14 years-old-girl presented with severe weight loss (severe malnutrition), with chief complaint of fever since 1 month and hemoptysis since 2 days prior. Her parents showed negative for TB screening. History of tuberculosis contact is her neighbour identified MDR-TB and received treatment in our hospital. Her X-pert MTB/RIF revealed positive Mycobacterium tuberculosis with Rifampicin resistant. Culture M. tuberculosis was positive, confirming M. tuberculosis resistant to isoniazid and rifampicin on line-probe assay as well as resistant to second-line injectable agents with second-line LPA, but susceptible to the fluoroquinolones. The chest x-ray showed active tuberculosis with opacity at the right hilar, lobulated infiltrate in the left apex, nodular at left hilar, and enlarged bilateral peri-hilar lymph nodes (Fig. 2). Before starting the therapy she was consulted to the Psychiatry, Ophthalmology and Ear, Nose and Throat department. Baseline electrocardiography (ECG) showed normal QT interval. HIV screening was negative. She started on individualized drugs regimen for pre-XDR TB with levofloxacin (10 mg/kg/day once daily), ethionamide (15 mg/kg/day once daily), cycloserine (10 mg/kg/day once daily), pyrazinamide (35 mg/kg/day once daily), para-aminosalicylic acid (PAS 200 mg/kg/day divided in two dose), bedaquiline (200 mg once daily for 2 weeks). On the second day receiving bedaquiline, the ECG showed prolonged QT interval >500 ms without any electrolyte imbalance, so bedaquiline was stopped and ECG was examined every day. She started to receive linezolid 400 mg per day (10 mg/kg/day once daily) replacing bedaquiline. There was no more prolonged QT after given linezolid. Laboratory examination and clinical manifestation was monitored due to the side effects of the therapy. During hospitalization no other adverse reaction occurred. The laboratory examination is within normal limit. After two weeks hospitalized, she was discharged. She was followed every one month, no adverse reaction of nausea, vomit, jaundice was reported. Linezolid toxicity was also observed during treatment, hematologic value was normal, no anemia nor thrombocytopenia was found, there were no vision loss and color vision test result was normal (evaluated through Ishihara test). No peripheral neuropathy signs (paresthesia, numbness in extremities) were reported. Her weight increased 2 kg after 3 months treatment and her nutritional status improved to normal weight from severe malnutrition after 20 months of treatment. The M.tuberculosis culture result was negative on the first and third month of treatment. | case report, children, pre-extensively drug resistant tuberculosis | Not supported with pagination yet | null |
PMC6390555_01 | Female | 9 | A forty-nine-year-old female from a suburban community in Sri Lanka presented with insidious high grade intermittent fever with chills and rigors for 2 months. She experienced one to two febrile episodes daily with complete defervescence in between. She also had anorexia, weight loss, sore-throat and symmetrical large joint arthritis without morning stiffness. Small joints and axial skeleton were spared. She also noticed an itchy desquamating erythematous rash over back of the trunk and proximal limbs. Erythematous patches were transient and recurring but did not temporally correspond to febrile peaks. The patient did not have any symptoms referable to a focus of infection and did not report photosensitivity, Raynaud phenomenon, past history of tuberculosis, or high risk sexual behaviours.
The patient was averagely built (BMI: 23.1 kg/m2), febrile (39.9 C), ill and pale. A firm 1.5 cm lymph node in the right posterior cervical group was noted. Throat was non-inflamed. Erythematous macules noted over the trunk and proximal limbs were transient. Symmetric arthritis affected elbow, wrist and knee joints. A smooth non-tender 2 cm hepatomegaly was noted. The rest of the examination was unremarkable.
Investigations revealed a normocytic normochromic anaemia, neutrophil leukocytosis with toxic changes, reactive thrombocytosis, elevated ESR (110 mm 1st hour), CRP (165 U/L) and ferritin (3200 U/L). Renal function was normal and liver enzymes were mildly elevated (AST 66 U/L, ALT 57 U/L). Auto antibody panel, including rheumatoid factor, antinuclear antibodies (ANA), dsDNA antibodies, pANCA and cANCA were negative. Contrast enhanced computerized tomography of the neck, chest, abdomen and pelvis demonstrated enlarged cervical lymph nodes and fatty liver. Radiographs of large joints were normal. Biopsy of the lymph node showed reactive lymphoid hyperplasia with no evidence of neoplastic changes, suppuration or granuloma. Bone marrow aspiration and trephine showed no abnormalities. Blood and bone marrow cultures for bacteria, tuberculosis, brucellosis, melioidosis and fungi were negative. Serum protein electrophoresis showed polyclonal gamma-globulinaemia and reduced albumin fraction. As she had been exposed to flood water 2 weeks prior to symptom onset (compatible with incubation period of 1-3 weeks) and several cases of melioidosis had been reported in her residential area, antibodies against Burkholderia pseudomallei were tested. It turned positive (1:640, indirect haemagglutination) and titre continued to rise over time (Fig. 1).
Febrile illness, possible exposure to infectious agents during floods and elevated inflammatory markers necessitated consideration of empiric antibiotic therapy. The patient was treated with ceftazidime (2 g 6 hourly IV) and imipenem (1 g 8 hourly IV) for 14 days and ceftazidime and cotrimoxazole (1440 mg bid orally) for another 14 days, due to positive serology for melioidosis. However she did not show clinical improvement. Fever persisted and inflammatory markers remained elevated. Serum ferritin and melioidosis antibody titre continued to rise exponentially. However repeated peripheral blood cultures for melioidosis did not isolate any bacteria and repeated imaging did not reveal a focus of infection.
Despite a month of broad spectrum antibiotics she remained febrile with persistently elevated inflammatory markers. In retrospect, AOSD was considered as a possible diagnosis. She showed partial response to NSAIDs, further favouring this diagnosis. Subsequently, she was commenced on high dose steroids (prednisolone 1 mg/kg/day). Within 2 days she achieved complete defervescence and made a good clinical recovery. Serum ferritin level and melioidosis antibody titre declined over time (Fig. 1). After one month of steroid therapy she remained afebrile, but had mild residual large joint arthritis with minimal functional impairment. Methotrexate was commenced and steroids were tapered over next 2 months and at 6 months she remained asymptomatic on methotrexate with normal inflammatory markers. Long term follow up was arranged.
The final diagnosis of AOSD was made based on clinical features and exclusion of other connective tissue disorders, neoplasms and infections. During the course of her illness the patient did not develop Macrophage Activation Syndrome, a serious complication of AOSD. | adult onset still’s disease, false positive antibodies, melioidosis | Not supported with pagination yet | null |
PMC6744365_01 | Male | 25 | A 25-year-old man, previously healthy, was initially admitted due to slowly progressive headache with blurry vision and fever for nine months. The patient recalls ingesting raw camel milk, which is a major risk factor for brucellosis. There was no previous contact with a tuberculosis case. The headache worsened one week before his admission and the patient lost vision in the left eye. His vital signs and cognitive function were normal. Pupils were reactive, but the patient was barely seeing the flash light with his left eye. Ophthalmologic examination revealed an atrophic optic disc mainly with decreased visual acuity bilaterally. Extraocular muscles were intact. The remaining neurological examination was unremarkable.
His diagnostic work up showed total white blood cell (WBC) count of 5.61 x 109 cells/mm3 and a C-reactive protein (CRP) level of 3.76 mg/L. His cerebrospinal fluid (CSF) acid fast bacilli (AFB) stain and Mycobacterium tuberculosis polymerase chain reaction (MTB-PCR) were both negative. Blood and CSF cultures were positive for Brucella spp. His serum serological test was positive for B. melitensis and B. abortus. Antibody titers were 1:640 for both strains, just at the cutoff level for the serological diagnosis of the infection. CSF analysis showed elevated WBC count (170 cells/mm3 with 34.9% lymphocytes) and decreased glucose level (34.2 mg/dL). Serum glucose level at that time was 99 mg/dL. CSF protein level was 1.5 g/L while red blood cell (RBC) count was 7 cells/mm3. A magnetic resonance imaging (MRI) of his brain showed multiple, bilateral small dural-based nodular enhancements in both upper frontal lobes (Image 1). The patient was diagnosed with neurobrucellosis. Unfortunately, the patient has completely lost his vision in the left eye with weakened vision in the right eye because of a late presentation and delayed diagnosis. As such, the patient was immediately started on ceftriaxone 2 g intravenously (IV) every 12 h, doxycycline 100 mg orally every 12 h and rifampin 900 mg orally once daily for six weeks along with amikacin 400 mg IV every 12 h for the first three weeks. Three weeks after treatment was initiated, both antibody titers remained at 1:640, which was expected as Brucella antibodies may persist for months after conclusion of therapy. His repeated blood and CSF cultures returned negative a few days after treatment. A repeated MRI of the brain showed interval decrease in the number of the previously reported bilateral frontal leptomeningeal enhancing foci. However, small residual abnormal enhancing foci were still noted. Fortunately, no interval development of new lesions was seen (Image 2).
Upon completion of the IV regimen (amikacin and ceftriaxone), the patient was discharged on oral doxycycline 100 mg every 12 h and rifampin 300 mg every 8 h to be taken for 6 months. In an outpatient follow up visit three months later, the patient's vision on the right side was slightly improving. While B. melitensis antibody titer slightly decreased to 1:320, B. abortus antibody titer remained at 1:640. Three months later (six months after discharge), a repeated lumbar puncture showed improved CSF analysis with WBC count of 6 cells/mm3, RBC count of 1 cell/mm3, protein level of 0.55 g/L and glucose level of 46.8 mg/dL (serum glucose level was not obtained at the time of this test). Brucella antibody titer in the serum declined from 1:640 to 1:40 for both strains. At this visit, the decision was made to extend the treatment to 3-6 more months to ensure full recovery. Three months later, a repeated brain MRI showed no more meningeal enhancement and CSF analysis was normal; therefore, antibiotic treatment for brucellosis was stopped. | brucella, brucellosis, cases, ceftriaxone, saudi arabia, zoonotic infection | Not supported with pagination yet | null |
PMC6744365_02 | Female | 54 | A 54-year-old woman, known case of type 2 diabetes mellitus and hypertension, was admitted to the hospital due to fever, severe neck and back pain, as well as nausea and vomiting for 2 weeks. She admitted drinking a small amount of raw milk several weeks before her presentation. She had no signs of meningitis and her neurological examination was normal. A lumbar puncture revealed no bacterial growth with CSF protein level of 0.7 g/L and glucose level of 126 mg/dL (serum glucose level was 268.2 mg/dL). CSF WBC count was <1 cell/mm3 and RBC count was 8 cells/mm3. AFB stain showed no Mycobacteria, and CSF MTB-PCR did not detect M. tuberculosis. Urine culture came back negative for any bacterial growth. However, a blood culture was positive for Brucella spp. In addition, both B. melitensis and B. abortus antibody titers in the serum exceeded 1:1280. An abdominal ultrasound was unremarkable. A transthoracic echocardiography followed by a transesophageal echocardiography were both normal. The patient was immediately started on ceftriaxone 2 g IV every 12 h, streptomycin 1 g intramuscularly (IM) once daily, doxycycline 100 mg orally every 12 h and rifampin 300 mg orally every 8 h daily for a total duration of 6 weeks. Her nausea and vomiting were treated with metoclopramide and ondansetron. Her back pain appeared to be due to disc prolapse rather than Brucella spondylodiscitis as was concluded from the MRI of her cervical and lumbosacral areas. After the patient completed 12 days of therapy, she was discharged on doxycycline 100 mg orally every 12 h and rifampin 300 mg orally every 8 h for 30 days and to continue her parenteral antibiotics as an outpatient. Upon follow up one month later, both Brucella antibody titers declined to 1:1280 in the serum. CRP level was 6.93 mg/L (no level was obtained at baseline). The patient was advised to continue the oral antibiotics for 6 more weeks while streptomycin and ceftriaxone were stopped. Two months later (three months post discharge), CRP level increased to 31 mg/L; nonetheless, antibody titers of B. melitensis and B. abortus declined to 1:640 and 1:320, respectively. As the patient appeared asymptomatic and clinically well, her antibiotics were stopped; though, she was advised to remain under supervision and to return for follow up in case of a potential relapse. | brucella, brucellosis, cases, ceftriaxone, saudi arabia, zoonotic infection | Not supported with pagination yet | null |
PMC6744365_03 | Male | 31 | A 31-years-old man who was otherwise healthy presented to the emergency department with high grade fever that persisted for a week but was manageable with acetaminophen (paracetamol). The patient also suffered from headache for three days which he described as being band-like surrounding his head. He reported regular contact with camels and occasional consumption of their raw milk. Three weeks before presentation, he was on vacation in Turkey where he consumed raw dairy products at a rural farm. He was febrile but his physical examination was normal otherwise. Lab investigations revealed a CRP level of 13.5 mg/L and CSF analysis showing a WBC count of 59 cells/mm3 (polymorphonuclear cells of 23% and lymphocytes of 71%), RBC count of 3 cells/mm3, protein level of 0.43 g/L and glucose level of 54 mg/dL (serum glucose was 100 mg/dL). His blood and CSF cultures were negative for Brucella spp. and so were the AFB satin, culture, and MTB-PCR. Nevertheless, his Brucella serum serology revealed an antibody titer of 1:1280 for both, B. melitensis and B. abortus. He was admitted as a case of neurobrucellosis and was started on ceftriaxone 2 g IV every 12 h, amikacin 720 mg (7.5 mg/kg) IV every 12 h, doxycycline 100 mg orally every 12 h and rifampin 900 mg orally once daily. Ten days later, he stared having spikes of fever reaching 40 C, a thorough physical examination and work up were done and they were negative for any potential infection or reason for fever. Thus, antibiotic-induced fever was suspected due to ceftriaxone, thus, it was discontinued despite the overall improvement of the patient's central nervous system symptoms. Ceftriaxone was replaced with ciprofloxacin 400 mg IV every 8 h. As the fever persisted and liver enzymes were noted to increase, rifampin was stopped as well. In less than a week, rifampin was reintroduced. However, 90 min after the dose, the patient experienced shortness of breath, rash, swelling and redness of skin. His reaction was managed immediately with antihistamine and hydrocortisone. This allergic reaction was presumed to be attributed to rifampin; hence, it was stopped and never introduced again. Moreover, the patient also complained of reduced hearing in his right ear which was suspected to be due to an ototoxic effect of amikacin which resulted in its discontinuation. In order to enhance the management of neurobrucellosis, trimethoprim/sulfamethoxazole (TMP/SMX) double strength was started orally; yet, the patient had an episode of vomiting, so it was switched to IV which was well tolerated. Later on, as the patient was being prepared for discharge, IV TMP/SMX was stepped down to the oral formulation again. A lumbar puncture was repeated before discharge and showed an improvement from baseline with WBC count of 4 cells/mm3 (lymphocytes of 86%), RBC count of 9 cells/mm3, 0.33 g/L of protein and 61.2 mg/dL of glucose (serum glucose was not available at this point of time). Repeated antibody titers for B. melitensis and B. abortus were 1:640 and 1:320, respectively. The patient was discharged on doxycycline 100 mg orally every 12 h, ciprofloxacin 750 mg orally every 12 h and TMP/SMX double strength orally every 12 h. In his first outpatient visit one month after discharge, the patient admitted to voluntarily discontinuing TMP/SMX due to severe episodes of vomiting and refused to take it again; however, he continued taking doxycycline and ciprofloxacin which resulted in clinical success (after a total of 18 weeks on doxycycline and 16 weeks on ciprofloxacin). | brucella, brucellosis, cases, ceftriaxone, saudi arabia, zoonotic infection | Not supported with pagination yet | null |
PMC6744365_04 | Male | 25 | A 25-years-old man who was previously healthy came to the hospital complaining of left lower limb pain that progressed to limb weakness with decreased ability to walk. Physical examination revealed moderate lower limb weakness with foot drop. It was worse on the left side with lower motor neuron lesion findings. He had normal sensory exam. He reported drinking raw camel milk three months before the first episode of pain with a family member who was diagnosed with brucellosis recently. There was no tuberculosis contact. Since the patient was suspected to have neurobrucellosis, lumbar puncture was done. CSF analysis showed a WBC count of 420 (polymorphonuclear cells of 4% and lymphocytes of 90%) cells/mm3, RBC count of 18 cells/mm3, elevated protein level at 2.45 g/L and glucose level of 21.6 mg/dL (serum glucose was 81 mg/dL). The CSF culture was positive for Brucella species. The acid fast bacilli stain and culture were negative, as well as the MTB-PCR. Other investigations including tests for hepatitis B and C viruses and human immunodeficiency virus (HIV) 1 and 2 were all negative. Serologically, antibody titers results from the CSF for B. melitensis and B. abortuswere 1:160 and 1:80, respectively. His serum titers were not obtained initially. His CRP level was within normal limits. The patient refused to have a tuberculin skin test. An MRI of lumbosacral spine revealed enhancement of cauda equina nerve roots and surface of thecal sac, as well as L5-S1 degenerative changes with central posterior disc bulge indenting the ventral aspect of the thecal sac with no significant neural compromise associated with intervertebral disc dehydration (Image 3). He was admitted as a case of cauda equina syndrome secondary to neurobrucellosis and was started on ceftriaxone 2 g IV every 12 h, amikacin 500 mg IV every 8 h, doxycycline 100 mg orally every 12 h and rifampin 900 mg orally once daily. The initial plan was to continue the antibiotics with daily physiotherapy then re-evaluate after 6 weeks. However, two weeks into the treatment, the patient's status deteriorated significantly, from difficulty walking to being completely bed bound. Repeated work up showed no other significant findings. Furthermore, after 4 weeks of treatment, the patient started complaining of decreased hearing and pain in both ears resulted in discontinuation of amikacin. Six weeks into therapy, a repeated lumbar puncture did not show a significant improvement with a CSF analysis showing a WBC count of 315 cells/mm3 (polymorphonuclear cells of 41% and lymphocytes of 45%), RBC count of 15 cells/mm3, protein of 3.73 g/L and glucose level of 23.4 mg/dL (serum glucose was 82 mg/dL). Serum antibody titers were 1:320 and 1:80 for B. melitensis and B. abortus, respectively. Since the CSF repeated culture returned negative for Brucella spp., prednisone 1 mg/kg tapering dose was added aiming to reduce further nerve impingement. Luckily, the patient started to show clinical improvement and the IV ceftriaxone was discontinued after completing six weeks of treatment. The patient continued to restore his lower limb power and he was able to transfer to the wheelchair independently. Hence, he was discharged on doxycycline 100 mg orally every 12 h and rifampin 900 mg orally once daily for one year. The patient was scheduled for follow up in both the infectious diseases and neurology clinics. On his outpatient visits, the patient showed remarkable improvement of his lower limb weakness and he restored the ability to walk again using a cane. Serum antibody titers for both Brucella strains were at 1:80 and CRP remained within the normal range. | brucella, brucellosis, cases, ceftriaxone, saudi arabia, zoonotic infection | Not supported with pagination yet | null |
PMC6744365_06 | Male | 44 | A 44-year-old man with a history of recurrent epididymo-orchitis presented to the emergency department complaining of an on-and-off scrotal pain for the last 15 days and low grade fever for which he was given ciprofloxacin for 10 days and acetaminophen (paracetamol) from another hospital. This regimen helped managing his symptoms; however, they were not resolved rendering him seeking medical help at our institution. There were no histories of contact with a tuberculosis patient or raw milk consumption. On physical examination, his scrotum was enlarged, swollen and tender. An ultrasound revealed both testes were of normal size; however, there was bilateral significant increased vascularity in both testicles and both epididymal heads. The scrotal skin was not thickened. There was a slightly increased echogenicity of both testes and a small left hydrocele was identified.
There were a few (about four) tiny echogenic foci noted within the left testicle likely representing small calcifications. Physical examination findings of regional lymph nodes and skin were not significant. While awaiting other investigations, the patient was started on ciprofloxacin 400 mg IV every 12 h as an empiric therapy. Blood culture came back negative for Brucella spp.; however, antibody titers were positive for B. melitensis and B. abortus at 1:1280 for both strains. CRP level was 6.8 mg/L. The patient was diagnosed with Brucella epididymo-orchitis, but refused to undergo lumbar puncture for further investigation. Due to lack of clinical improvement, ciprofloxacin was discontinued three days later and was replaced by ceftriaxone 1 g IV every 12 h, doxycycline 100 mg orally every 12 h and rifampin 900 mg orally once daily. After two doses of 900 mg rifampin, the dose was decreased to 600 mg orally once daily though nothing in the patient's notes indicated the reason for the dose change nor the liver enzymes were elevated. After ten days of treatment, ceftriaxone was stopped and the patient was discharged on doxycycline 100 mg orally every 12 h and rifampin 600 mg orally once daily for a minimum period of three months. Before discharge, the patient was clinically improving as demonstrated by the decreased swelling and tenderness of his scrotum. On his first visit as an outpatient 2 weeks after discharge, the patient reported no new complications and appeared clinically well. Tests showed no signs of drug-induced hepatotoxicity, so the rifampin dose was increased to 900 mg orally once daily. On examination, his scrotum appeared to be relieved of the swelling and decreased in size. CRP level decreased slightly to 5.21 mg/L. A week later, the patient came again for follow up. While the patient did not show up for the next visit, his Brucella epididymoorchitis was deemed cured based on the improved clinical findings and decreased CRP. No repeated serology was done. | brucella, brucellosis, cases, ceftriaxone, saudi arabia, zoonotic infection | Not supported with pagination yet | null |
PMC9850095_01 | Male | 12 | A 12-year-old boy with a one-year history of muscle weakness and gait disturbance that progressed slowly presented to our hospital. He had no remarkable past medical history or family history of metabolic bone disease. Roentgenographic examination revealed a deficiency of mineralization like that seen in rickets patients in the epiphysis of the bilateral proximal tibias and distal femurs ( Figure 1A ), and a radiolucent lesion with endosteal scalloping and marginal sclerosing in the left fibula ( Figure 1B ). Blood examination revealed a low serum phosphorus level of 2.3 mg/dL (reference range: 3.0-4.7 mg/dL), and a markedly high serum FGF23 level of 329 pg/mL (reference range: <50 pg/mL), and so we suspected PMT with TIO caused by the tumor-like lesion in the left fibula.
We resected the tumor en bloc by preserving the periosteum of the fibula after confirming its benignity by intraoperative frozen section diagnosis, and the cavity of the tumor was filled with beta-tricalcium phosphate (beta-TCP) ( Figure 1C and Supplemental Figure 1 ). The muscle weakness gradually improved, and the gait disturbance normalized within two months. In the postoperative 21-month follow-up, he had no symptoms, and hypophosphatemia was not detected. Roentgenographic examination revealed absorption of the beta-TCP and bone formation and union of the fibular shaft ( Figure 1D ).
Histopathological examination of the resected tumor revealed irregularly deposited osteoid and osteoblast-like tumor cells scattered between the osteoid and reactive osteoclastic giant cells ( Figure 1E and Supplemental Figure 2 ). In immunohistochemistry, expression of FGF23 was shown in the cytoplasm of the osteoblast-like tumor cells ( Figure 1F ), CD56 was diffusely positive on the cell membrane of the tumor cells and SATB2 was diffusely positive on the tumor cells ( Supplemental Figure 2 ).
After resecting the tumor, the serum FGF23 level started to decrease immediately and normalized within 3 hours ( Figure 1G ). It was also within the normal range five days after surgery. The increase in serum phosphorus level was slightly delayed as compared with that of the FGF23 level, and was observed 6 days after the operation ( Figure 1H ).
We performed RNA sequencing using a resected specimen from the patient and identified a novel in-frame fusion involving NIPBL (encoding Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins) and BEND2 (encoding a protein which has two BEN domains in the C-terminus) ( Figure 2A ). The fusion protein contained the phosphorylation site derived from NIPBL and the BEN domain derived from BEND2 ( Figure 2B ). Whole-exome sequencing identified three point mutations (IFT172:NM_015662:exon3:c.A263G:p.N88S; VAF = 0.22, GAB2:NM_080491:exon6:c.A1409G:p.D470G; VAF = 0.15, and PRKCH : NM_006255:exon14:c.A1996T:p.I666F; VAF = 0.17), none of which
were reported as driver mutations. In polymerase chain reaction, the amplification of target regions containing breakpoint of the chromosomal structure was confirmed using two primer sets in tumor DNA of the PMT ( Supplemental Figure 3 ).
We cloned and transfected the NIPBL-BEND2 fusion gene to HEK293T and MG63 osteoblast lineage cell line. The NIPBL-BEND2 transfected cells showed faster proliferation at 48 hours after transfection (p = 0.001 and 0.003, Student's t-test, respectively). ( Figures 2C, D ). A gene set enrichment analysis of the fusion gene-introduced HEK293T cells identified a significant enrichment of MYC-target genes, consistent with faster proliferation ( Figure 2E ). However, the expression of FGF23 (log2 fold change; 0.031) and FGFR1 (log 2 fold change; 1.59) was not changed significantly by the transfection in addition to the KL/KLB, SPP1, SFRP4, and MEPE ( Supplemental Data 1 ), even though the tumor mRNA showed relatively high FPKM in these genes ( Supplemental Table 3 ). | rna sequencing, bone tumor, fusion gene, phosphaturic mesenchymal tumor, tumor induced osteomalacia, whole exome sequencing | Not supported with pagination yet | null |
PMC3523579_01 | Male | 28 | A 28-year-old nonsmoking male was referred for diagnostic evaluation of recurrent mild haemoptysis associated with a right upper lobe solitary pulmonary nodule of 8 weeks duration. Chest radiograph revealed a 1.5 x 2 cm coin lesion in the posterior segment of the right upper lobe of the lung (Figure 1).
The medical history was noncontributory. A computed tomographic (CT) scan of the chest confirmed the chest radiograph findings; a solid mass was noted in the posterior segment of the right upper lobe of the lung with an area of central lucency (Figure 2).
There was no hilar lymphadenopathy. Sputum microscopy, culture, and cytological examination were noncontributory. The ESR was 14, the haemoglobin 14.6 g/dL, and the leukocyte count of 8.8 x 109/L. The other serum haematological and biochemical results were normal.
In view of the patient's ongoing haemoptysis and lack of response to antibiotics he was subjected to an exploratory thoracotomy and wedge resection of the lesion in the right upper lobe. A solid mass in the posterior segment of the right upper lobe was noted and it was excised. No associated lymphadenopathy was noted. Frozen section of the mass revealed no evidence of carcinoma or tuberculosis. The patient developed a right upper lobe lung abscess postoperatively, and underwent a complete right upper lobe lobectomy.
Macroscopically, a well-circumscribed tan-coloured nodule measuring 35 x 15 mm was present. The cut surfaces of the tumour revealed a haemorrhagic necrotic centre. Microscopically, the mass consisted of a heavy inflammatory cell infiltrate composed predominantly of lymphocytes, with plasma cells and histiocytes. Foamy histiocytes with macrophages were also seen, as well as occasional eosinophils and neutrophils. Focal areas of micro-abscess formation with necrosis were also noted. A marked degree of fibrosis of the interstitial tissue was present with proliferating myofibroblasts. The histological characteristics were compatible with an inflammatory myofibroblastic pseudotumour (organising pneumonia-like type; Figure 3).
The postoperative course was uneventful, the patient was discharged from the hospital one week later, and three years after surgical resection the patient remains well and free of disease. | null | Not supported with pagination yet | null |
PMC5723361_01 | Female | 67 | A 67 year old diabetic lady presented with left groin pain for three weeks off and on associated with fever to the Orthopedic Clinic at the Aga Khan University Hospital, an academic tertiary care hospital in Karachi, Pakistan. She underwent un-cemented unipolar hemiarthoplasty of the left hip 8 years back. On examination, she was unable to elicit active movements at left hip. Personal and family history was negative for tuberculosis and wound infection at the index hip surgery. There was no relevant drug, family and genetic and psychosocial history.
Lab workup was done which showed raised serum infective markers. White cell count was 11.9 x 109/L, erythrocyte sedimentation rate was 118 mm/h (0-20) and CRP was 13.45 mg/dl (0-0.5). Urine culture was negative. Chest radiograph was normal. Hip radiographs demonstrated uncemented unipolar left hip arthroplasty with no evidence of any radiolucency or prosthetic loosening (Fig. 1). Moderate degenerative changes were found on radiograph of lumbosacral spine more marked at L4-L5 and L5-S1 level. Ultrasound of hip joint was performed before proceeding with surgery. Two ml pus was aspirated and culture showed growth of E. coli. Due to left groin pain, markedly elevated ESR and CRP and positive culture from hip aspiration, patient was planned for left hip arthrotomy. The surgery was performed by a consultant orthopaedic surgeon. The previous Moore approach was used for left hip arthrotomy. Hip joint appeared normal and implant was noted to be well fixed. Clear fluid was noted in hip joint at the level of psoas muscle. Pus was debrided at the lesser trochanter. Tissue sample was sent for culture and sensitivity which showed E coli and histopathology reported with psoas abscess. Computed tomography scan of abdomen was performed showing bilateral perinephritic fat standing with dilated ureters suggestive of Pyelonephritis (Fig. 2).
Patient was seen by infectious disease service. Patient tolerated the procedure well and there were no postoperative complications. Post operatively she was started on antibiotics which were continued for three months. She was mobilized weight bearing as tolerated with support postoperatively.The range of motion was restored with normal gait, initially ambulating with support followed by progressive improvement in her range of motion to 70 flexion, 30 abduction, 10 internal rotation and 15 external rotation within two weeks.
ESR and CRP returned to normal limits. Twenty months later, she remains asymptomatic without evidence of infection. | case report, prosthetic hip infection, psoas abscess, pyelonephritis | Not supported with pagination yet | null |
PMC6010925_01 | Male | 37 | A 37-year-old Iranian male patient was admitted to the Shohadaye Ashayer Hospital, Khorramabad, Iran, in 2016 with the complaints of weakness, anorexia, fatigue, weight loss along with fever and chills. The fever was dramatically exacerbated at nights and it was accompanied with sweating, dyspnea, and nonbloody sputum. The patient had been bothered by anal pain and discharge. The symptoms had started 7 days prior to his referral to the hospital. The patient added that all of the above-mentioned symptoms emerged a week (2 weeks before his referral to the hospital) after he had undergone anal fistula surgery and pilonidal sinus surgery due to rectal bleeding that had lasted for 9 months. He had also lost weight up to 12 kg over the previous 5 months. He had received antimicrobials and analgesia in the aftermath of his anal surgery, including metronidazole, ciprofloxacin and acetaminophen. The patient had a history of smoking, opium use and IV drug injection. Historically, he was not known to be immunocompromised and had no close contact with a case of tuberculosis.
On physical examination, he was fully alert and conscious and could actively participate in a conversation. His vital signs were as follows: temperature: 37.9C, heart rate: 86 beats/min, blood pressure: 100/70 mm/Hg, and respiratory rate: 18 breaths/min. In general, he seemed well. Thoracic and abdominal examinations were completely normal, respiratory and cardiac sound were normal and jugular venous pressure was not raised, nor was any lymphadenopathy detected. On the examination of the anus, anal erythema and swelling as well as discharge near the site of surgery were observed.
Standard blood tests are shown in Table 1. A PPD was negative. He was found be HIV antibody positive as well as anti hepatitis C positive. Chest X-ray did not reveal any abnormalities and the CT of the chest was also negative. The CT scan of the abdomen/pelvis with contrast revealed thickening of the rectum (Fig. 1). A colonoscopy revealed grade 2 internal hemorrhoids, many small aphthous ulcers in the rectum and normal sigmoid and descending colon (Fig. 2, Fig. 3). An AFB stain of the ulcers was negative. The biopsy showed chronic granulomatous proctitis (Fig. 4). Staining was positive for acid fast bacilli. The patient was then begun on standard four drug therapy for TB. The cultures for TB were positive and his symptoms and lesions healed. | aids, acquired immunodeficiency syndrome, anal, ct, computed tomography, esr, erythrocyte sedimentation rate, fistula surgery, hb, hemoglobin, hiv, human immunodeficiency virus, iv, intravenous, igg, immunoglobulin g, igm, immunoglobulin m, mtb, mycobacterium tuberculosis, tb, tuberculosis, tuberculosis, vdrl, venereal disease research laboratory | Not supported with pagination yet | null |
PMC6796728_01 | Female | 26 | Patient is a 26-year-old female with a past medical history of HIV. She was infected at age 15 and showed poor adherence to antiretroviral medication. She reported the combined use of Tenofovir, Emtricitabine, and Efavirenz intermittently, mostly because she did not seek adequate healthcare due to feelings of shame about being associated with the disease. She also missed most of her follow-ups in the last year, and had no CD4 counts or viral load tests performed in over 6 months. She also suffered from intermittent episodes of coughing, bloody stools, and weight loss during this time; however, she didn't seek any medical attention.
She presented to our emergency room with a 10-day history of intermittent lower abdominal pain, nausea, biliary vomits and asthenia. Approximately 24 h prior to admittance, the pain became worse. On clinical examination, a dehydrated, hypotensive and tachycardic patient was encountered. Her abdomen was diffusely tender, and the pain became more intense on touch. Laboratory exams revealed mild leukocytosis and neutrophilia. An arterial gasometry revealed metabolic acidosis with hyperlactatemia.
In view of these findings, surgical consultation was requested and a diagnosis of diffuse peritonitis was reached. Aggressive fluid resuscitation with crystalloids was started and an emergency laparotomy was decided. At surgery, the peritoneal cavity was filled with 500 ml of pus and 2 bowel perforations were identified: a 1 x 1 cm perforation in the terminal ileum, 50 cm proximal to the ileocecal valve, and a 3 x 2 cm perforation in the cecum (Fig. 1A-C).
A right colectomy was decided, however, the surgical team had doubts about restoring bowel continuity. Nonetheless, since the patient became stable after reanimation and surgery, restoration was considered feasible. Given the context of an HIV patient with poor controls who would be unlikely able to handle an ileostomy, a primary anastomosis with close surveillance was decided. Resection began 10 cm proximal to the ileal perforation and ended near the hepatic flexure of the colon. Then, a side-to-side ileotransverse anastomosis was performed with 75 mm staples (ETHICON Linear Cutter NTLC75, Johnson & Johnson). Extensive washing of the peritoneal cavity was completed and the remainder of the procedure was performed without complications. Based on the historical, clinical, and laboratory data obtained, we initially considered intestinal perforation due to cytomegalovirus (CMV) infection as the probable etiology of peritonitis, and the differentials included, mycobacterial infections, fungal infections, neoplastic disease or Kaposi sarcoma. However, definitive pathology tests for the cause of the perforation were delayed due to the unavailability of an in-house pathologist. Furthermore, other essential tests including CD4 counts and HIV viral loads and antibodies (both IgM and IgG) were not available at our institution.
This situation was further complicated by the lack of resources from the patient and our hospital; nonetheless, we managed to send a blood sample to a nearby hospital for testing. Even under these harsh conditions, the patient had a good recovery. She was placed under broad-spectrum antibiotics (Piperacillin/Tazobactam) and was given a 3-day cycle of Ganciclovir. Antiretroviral Therapy (ART) was initiated as well. Meanwhile, sips of liquids were initiated on the second postoperative day without complications. She didn't have any episodes of fever, nausea, vomiting or signs of anastomosis leak.
At the 7th postoperative day, the patient requested to leave against medical advice (AMA), she signed the hospital consents and left our facility.
Two days after the patient went AMA, CD4 and HIV viral load results arrived along with the pathology report, revealing chronic inflammation of the resected bowel, and multiple ulcers affecting the mucosa of the ileum and the cecum. Also, multiple granulomas surrounded by inflammatory tissue were recognized, as well as some granulomas within the lymph nodes. Bowel perforation due to tuberculosis was confirmed as the final diagnosis, CD4 cell counts were estimated at 94 cells/mm3, and the viral load was estimated at over 106 genome copies (Fig. 2A-C).
Since tuberculosis in Ecuador is a mandatory declaration disease, we searched for the patient and found her in the coastal region of the country. Fortunately, she was stable and without complications. She was taken by the national healthcare system and admitted to a tertiary hospital for HIV and tuberculosis treatment. | hiv, hiv/tb coinfection, intestinal tuberculosis, tuberculosis | Not supported with pagination yet | null |
PMC8573117_01 | Unknown | 4 | A 4-year old, male-castrated, mixed breed dog was presented to a primary care veterinarian for a routine wellness examination (day 1). The dog was adopted 7-months prior and the previous medical history was unknown. The owner reported that the dog exercised daily without limitation, lived indoors only, and had no history of trauma. The dog was fed a commercial kibble diet and not administered any medications or supplements. The physical examination, which included thorough neurologic, musculoskeletal, and cardiopulmonary evaluations, was unremarkable. A complete blood count, serum biochemistry, symmetric dimethylarginine (SDMA), and urinalysis were performed. Clinically relevant abnormalities on the serum biochemistry performed at that time included a severe hyperCKemia (15,137 IU/L; reference interval 10-200 IU/L), and moderate increases in alanine transaminase (ALT; [432 IU/L; reference interval 180-121 IU/L]) and aspartate aminotransferase (AST; [404 IU/L; reference interval 16-55 IU/L]) enzyme activities. The complete blood count, SDMA, and urinalysis were unremarkable. A serum biochemical profile was repeated 7-days later, which revealed persistently increased serum CK activity (10,301 IU/L) as well as ALT (409 IU/L) and AST (290 IU/L) enzyme activities (Figure 1). Recommendations for additional diagnostic testing were declined by the owner in favor of empirical treatment for potential toxoplasmosis/neosporosis with clindamycin (22.7 mg/kg, PO, q12 h for 14 days).
The dog was presented for evaluation on day 55. The owner reported no clinical changes in the dog and the physical examination remained unremarkable. A serum biochemistry was repeated and revealed relatively unchanged serum CK, ALT, and AST enzyme activities (Figure 1). A commercial ELISA-based kit (4DX SNAP Plus Test kit, IDEXX Laboratories Inc., Westbrook, ME) was negative for detection of antibodies for Ehrlichia sp., Anaplasma phagocytophilum, Anaplasma platys, Borrelia burgdorferi C6 peptide, and Dirofilaria immitis antigen. Differential diagnoses considered by the primary care veterinarian at that time included infectious polymyositis (Toxoplasma gondii or Neospora canis [potentially resistant to clindamycin], Hepatozoon canis or americanum), immune-mediated polymyositis, paraneoplastic polymyositis, congenital myopathy, or a hereditary muscular dystrophic disorder. The following diagnostic tests were recommended; skeletal muscle biopsy, electromyogram (EMG), echocardiogram, serum antinuclear antibodies, and additional infectious disease testing. The owner declined these recommendations because the dog was subclinical and instead opted for an additional course of clindamycin (22.7 mg/kg, PO, q12 h for 30 days). The dog was presented for evaluation on day 97. Again, the owner reported no abnormalities and the dog had an unremarkable physical examination. A serum biochemistry revealed relatively unchanged serum CK, ALT, and AST enzyme activities (Figure 1). All additional diagnostic testing recommendations were declined and the dog was discharged without medications.
The dog was presented to the primary care veterinarian for a wellness examination on day 602. The owner reported no abnormalities since the dog was last evaluated (day 97). The dog continued to exercise daily without limitation. Physical examination was unremarkable. There was no pain elicited with muscle palpation. A complete blood count, serum biochemistry, and urinalysis were performed. The serum biochemistry revealed persistence in severe hyperCKemia and mild to moderate increases in ALT and AST enzyme activities (Figure 1). The complete blood count and urinalysis were unremarkable. The owner declined additional diagnostic tests or empirical therapies at that time because the dog did not demonstrate any clinical abnormalities.
The dog was then presented to the Midwestern University Companion Animal Clinic (MWU-CAC) on day 1,036 for a second opinion regarding the severe hyperCKemia and mild-to-moderate increase in ALT and AST enzyme activities. The dog remained subclinical and exercised daily without limitation. A physical examination performed by a boarded small animal internist (JAJ) was unremarkable. The dog had a normal muscle conditioning score and pain was not elicited with deep palpation of musculature. A neurologic examination performed by a boarded neurologist (JE) revealed the dog was bright, alert and responsive. The dog was ambulatory with no signs of stilted gait, lameness or paresis. There was no overt exercise intolerance after several minutes of walking and trotting. Postural reactions, spinal reflexes and cranial nerves were normal. Serum biochemistry revealed an unchanged severe hyperCKemia and persistent mild-to-moderate derangements in ALT and AST enzyme activities (Figure 1). The dog was negative for detection of antibodies (IgM and IgG) for Toxoplasma gondii or Neospora canis (Protatek Reference Laboratory) and nucleic acids associated with Hepatozoon spp. (Texas A&M Veterinary Medical Diagnostic Laboratory) were not detected. An abdominal ultrasonogram performed by a boarded small animal internist (JAJ) trained in ultrasonography was unremarkable. Differential diagnoses considered at that time in order of likelihood was hereditary muscular dystrophy, and less likely necrotizing myopathy, generalized or focal inflammatory myopathy. Additional diagnostic tests including EMG, echocardiogram, or skeletal muscle biopsies were offered but declined by the owner.
The dog was evaluated on day 1,516 at the MWU-CAC for a pre-anesthetic examination for a dental prophylactic procedure. The owner reported no abnormalities since the dog was last evaluated (day 1,036) and the physical examination remained unremarkable. The dog had no muscle loss and remained active at home. A serum biochemistry revealed an improved, but persistent moderate hyperCKemia and mild-to-moderate increase in ALT and AST enzyme activities (Figure 1). A complete blood count and urinalysis were unremarkable. Next, an echocardiogram and electrocardiogram were performed by a boarded cardiologist (CP) in light of the persistent and unknown cause of severe hyperCKemia to ensure the dog did not have clinically relevant heart disease before undergoing anesthesia. Based on the echocardiographic findings, ACVIM Stage B1 degenerative valvular disease was detected, and demonstrated mild mitral and mild tricuspid regurgitation. The global systolic function appeared preserved. During the echocardiogram, Lead II electrocardiographic monitoring revealed a normal sinus rhythm with no evidence of ectopy.
The last in-hospital recheck examination took place on day 1,807 (5 years from initial evaluation). The owner reported no clinical abnormalities and the physical examination was unremarkable (Supplementary Video). The neurological examination was again normal. A serum biochemistry revealed a moderate hyperCKemia (4,601 IU/L) and mild-to-moderate increases in ALT (225 IU/L) and AST (165 IU/L) enzyme activity (Figure 1). Electrophoretic identification of serum CK isoenzymes (Antech Diagnostics, Irvine, CA, USA) revealed that CK-MM was the predominant electrophoretic fraction (83.7%), followed by CK-MB (10.3%) and CK-BB (6.0%). No injections were administered to the dog at or near the time serum total CK was measured at any of the examination time-points. | ck, canine, hyperckemia, muscular dystrophy, myopathy | Not supported with pagination yet | null |
PMC8794318_01 | Female | 67 | A 67-year-old female patient, complaining a history of poorly responsive bronchitic episodes and atrial fibrillation, underwent radiological work up after detection on January 2018 of a suspicious right upper lobe pulmonary lesion at chest X-ray. CT scan confirmed a right S1 irregular solitary nodule with signs of both mediastinal and parietal pleura involvement with concomitant multiple bilateral lymphadenopaties (stations 3, 4, 5) (February 2018). According to findings, an EBUS-TBNA bronchoscopy was performed on March 2018. The immediate postoperative period was uneventful as no intraoperative injuries, such as vascular or parenchymal ones, were reported. The hospital stay was uneventful and the patient was discharged on POD1. Twenty-four hours later, she was admitted to the Emergency Room Department due to the onset of relapsing episodes of haemoptysis. At admission, no impelling signs of cardiovascular impairment were reported (BP: 145/80 mmHg, HR: 88 beats per minute, T: 36.5 C, SaO2: 95%), as far as neither laboratory nor radiology highlighted any suggestive element for post-procedural complication.
At a rapid worsening of patient's clinical conditions requiring emergent oro-tracheal intubation, an urgent fibro-bronchoscopic evaluation showed the presence of an obstructive and non-viable subglottic formation with unsuccessful attempts of disobstruction till the onset of an irreversible cardio-circulatory arrest (Figure 1) due to acute respiratory distress and airway engorgement asphyxia. On autopsy, both lungs presented evident bloody polygonal areas alternating with compensatory emphysema ones. After en-bloc sampling of the airways, esophagus and heart, the section of the tracheal pars membranacea highlighted the presence of a blood clot that extended from the middle third of the tracheal lumen to the terminal bronchioles of both lungs (Figures 2,3).
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committees and with the Helsinki Declaration (as revised in 2013). No written informed consent has been obtained as anonymous data have been reported. | endobronchial haemorrhage, bronchoscopy, case report, endobronchial ultrasound transbronchial needle aspiration (ebus-tbna), lung cancer, lung nodule | Not supported with pagination yet | null |
PMC8046462_01 | Female | 9 | This was a 9-year-old female patient referred from Kibuye Hospital in the Western province of Rwanda for further investigations and management of the left calcaneal mass suspected to be an osteosarcoma. The condition had persisted for 4 months before consulting our clinic at Kigali University Teaching Hospital CHUK for the left heel pain and swelling. The examination noted a history of fever, weight loss and swelling of the left foot extending to the whole lower limb without cough. Consulted, as structured health system, Birambo Health Centre, then Kirinda district hospital where she received different treatment (that we are unable to get their records for proper identification), without improvement. After 2 weeks, a pus discharging sinus appeared on the heel mass. Two months later, the patient noted right hip swelling with inability to stand and walk. She consulted Kibuye Referral Hospital, from where she was referred at CHUK on December 1, 2017, for further management of possible osteosarcoma of the left calcaneus. No history of trauma nor TB contact.
On physical examination: Temperature was 37.6 C, respiratory rate of 20 cycles/min, pulse of 97 beats/min; two ulcerated wounds on the lateral aspect of left ankle and heel, swollen and tender ankle joint, two mobile, non-tender, small inguinal lymph nodes on the left side, limited range of motion of right hip joint with tenderness and mild shortening of right lower limb.
COM of the left calcaneum with pus discharging sinuses
Left foot synovial sarcoma/Ewing sarcoma
TB of the left calcaneum and right hip.
As management, she received analgesics, daily wounds care and different clinical pathology tests were requested (Table 1). Imaging studies including computed tomography (CT) scan of the left foot (Fig. 1a, b and d) and pelvic X-ray (Fig. 1c).
CT scan results (December 8, 2017): Lytic and sclerotic calcaneal tumor consistent with osteogenic sarcoma, the differential diagnosis is COM.
She was admitted on December 14, 2017, on December 18, 2017, curettage and biopsy were performed under general anesthesia and pre-operative chest X-ray was normal. The patient was discharged home on December 20, 2017.
On January 10, 2018, microscopic examination of the calcaneal mass curettings (Fig. 2) revealed rare poorly formed granuloma, rare multinucleated giant cells, and mixed acute and chronic inflammatory cell infiltrates in favor of possible extrapulmonary TB. The special auramine-rhodamine stain was positive for acid-fast bacilli (Fig. 2).
On February 8, 2018, the patient was referred to pediatric outpatient department (OPD) seen in OPD for TB treatment, as follows: Rifampicin, isoniazid, pyrazinamid, and ethambutol (R75 mg H50 mg Z50 mg E100 mg) 8 tablets per dose for 12 days and then for 48 days. Rifampicin, isoniazid (R75H50) for the remaining period. Pyridoxine 25 mg/day was associated for the two 1st month.
On July 9, 2018, she was reviewed in OPD with persistent small sinus on the left heel. Walking with axillary crutches. The X-rays showed sequestrum and sclerosis of calcaneum, distal tibia, and fibula (Fig. 1d).
We did a sequestrectomy under general anesthesia at Kibuye Hospital in citizen outreach program. She was discharged and advised to continue anti-TB.
On November 29, 2018, she was reviewed and had significantly improved and gained weight; sinuses healed, mild limping with limb length discrepancy of around 1 cm (right being short) and she could stand and walk with the aid of one axillary crutch. Had a limb length discrepancy of around 1 cm (right being short). The liver function test, renal function test, and hemogram test were normal. Control X-rays and morphology picture of the limb were obtained at the same time (Fig. 3). | calcaneus, rwanda, tuberculosis | Not supported with pagination yet | null |
PMC8639279_01 | Male | 74 | A 74-year-old male patient with a known case of benign prostatic hyperplasia (BPH) presented on 17 October 2020 to the emergency department (ED) with fever and progressive generalized fatigability for 10 days. He had a history of dysuria for two weeks, in addition to polyuria, mild night sweating, and weight loss of 10 kg in one month. There was no history of upper respiratory tract infections, nausea, vomiting, diarrhea, or abdominal pain. He reported a history of drinking unpasteurized milk and contact with farm animals but denied any history of contact with tuberculosis (TB) patients. There was no history of diabetes mellitus (DM). There was no family history of malignancy or rheumatologic disease. Prior to this presentation, he had frequent visits to the ED due to increased fatigability and joint pain. However, no diagnosis was established, and the treatment was often conservative. On this admission, he was managed empirically with intravenous (IV) tazocin and IV paracetamol, given his history. A septic workup was also performed. Laboratory investigations revealed positive serology for Brucella abortus and Brucella melitensis, elevated erythrocyte sedimentation rate (ESR) (58 mm/hr), C-reactive protein (CRP) (165.08 mg/dl), and leukocytosis (23.32x103/muL). Chest X-ray (CXR) was unremarkable. The patient was diagnosed with brucellosis and, eventually, discharged on doxycycline and rifampin. In addition, he was scheduled for a neurological follow-up to assess his progressive fatigability.
After one month, on 17 November 2020, he was seen in the neurology clinic. The diagnosis of Guillain-Barre syndrome (GBS) was suggested as radiculoneuropathy, and axonal sensorimotor polyneuropathy was proven by electromyography (EMG) and nerve conduction study (NCS). Accordingly, the patient was admitted and received immunoglobulin (IVIG) as recommended by the neurologist. After one week of receiving IVIG, his condition was still not improving and he was referred to the outpatient rheumatology clinic to exclude possible vasculitic processes. Later on, the patient was seen in the rheumatology clinic complaining of multiple joint pain and swelling of wrists, fingers, elbows, knees, ankle, and foot, which started four weeks earlier to his visit.
The pain and swelling in the knees and elbows almost completely improved after brucellosis therapy. However, he was still complaining of pain and swelling in the other joints, which usually worsened at night and improved with movement. Perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA) was strongly positive (131), ESR was 53 mm/1 hr, and CRP was 132.83 mg/dL. Rheumatoid factor (RF), anti-citrullinated protein antibodies (ACPA), antinuclear antibodies (ANA), cytoplasmic anti-neutrophil cytoplasmic antibody (C-ANCA), and ferritin were all normal. Despite being on appropriate antibiotics treatment for brucellosis, his fever did not subside. It was recurring in episodes, with each episode lasting 20 minutes per day. The fever was not associated with sweating, shivering, or other constitutional symptoms. Furthermore, based on the constellation of several findings, which include the persisting fever despite appropriate antibiotic therapy, the EMG/NCS finding of axonal sensorimotor polyneuropathy, the persistence of elevated inflammatory markers, the positive P-ANCA, and imaging that did not show any masses or fluid collection, the likelihood of underlying systemic vasculitis was high according to the rheumatology team. Therefore, prednisolone 50 mg PO OD was started. In addition, he was continued on doxycycline and rifampin for another set of 11 days to complete six weeks of the brucellosis treatment course.
After one week of being on steroids, his fever totally subsided and other symptoms had significantly improved. Also, his CRP started to decrease, reaching 79.59 mg/dl. However, P-ANCA was still high (119.4). Therefore, the decision was made to continue on prednisolone 50 mg for another week, followed by 40 mg for two weeks and then 30 mg for two weeks. On the next visit after four weeks on 27 December 2020, he reported significant improvement in his symptoms with no more joint pain and resumed his normal activities independently. Also, lab results showed decreased P-ANCA to 57.8 and CRP to 19.36 mg/dL. Azathioprine 50 mg PO twice a day was added while he continued taking steroids with a tapering dose. After four weeks, on 26 January 2021, he reported that he was no longer experiencing fever, fatigue, joint swelling, or pain. However, he could not actively flex or extend his left index finger or right thumb, which was attributed to his peripheral neuropathy. Therefore, azathioprine dose was optimized to 50 mg three times a day. The patient was reevaluated on 7 March 2021. He was found to be asymptomatic, with no active complaints. Subsequently, azathioprine dosage was reduced to 50 mg PO BID. | null | Not supported with pagination yet | null |
PMC9263511_01 | Male | 36 | A 36-year-old Han-Chinese right-handed man (patient III-10, the proband) developed anxiety, depression, sleep disorder, and tremor in his hands after a panic attack but without known medical history. His cognitive state declined, and he was unable to perform job duties due to memory loss. At 11 months after onset, the patient became withdrawn, and more deterioration of his cognitive function was observed, indicated by the difficulty in calculating, being lost at home, and frequently forgetting the names of acquaintances. Besides, the tremors spread to bilateral limbs, which led to difficulty in cake decoration (the patient's profession). After 16 months of onset, he was diagnosed with depression and anxiety and was prescribed sertraline, fluphenazine, and piracetam. At 17 months after onset, he was scored 20 of 30 on the Chinese Mini-Mental Status Examination (MMSE), and 15 of 30 on the Montreal Cognitive Assessment (MoCA Beijing Version). The Hamilton's Depression Scale was 7. At 19 months after onset, he developed hallucinations, which made him see his sons as enemies, and occasionally, he protected himself via aggressive behaviors.
In the clinic, the diagnosis of possible behavioral variant Frontotemporal Dementia (bvFTD) was considered because of the abnormal neuropsychological profile, such as early apathy and executive/gene deficits with relative sparing of memory and visuospatial functions.
A thorough neurological examination 20 months after the onset revealed a total deterioration of the cognitive state, dysarthria, slight hypermyotonia, and deep tendon hyperreflexias in the bilateral limbs, and the patient presented cogwheel-like rigidity. He had difficulty finishing the finger-to-nose test and heel-knee-tibia test due to tremors in his limbs. The patient was unsteady when walking on a straight line. No involuntary movement was observed. He scored 15 of 30 on the Chinese MMSE, and 9 of 30 on the MoCA Beijing Version. The Hamilton's Depression Scale was 7.
To our surprise, the brain MRI demonstrated abnormal intensities in the bilateral caudate nucleus, putamen, and cerebral cortex. A series of laboratory examinations were performed for the rapidly progressive early-onset dementia. The autoimmune screening and tumor marker identification were shown to be unremarkable or negative. An extensive panel for paraneoplastic antibodies including Amphiphysin, CV2, PNMA2 (Ma2/Ta), Ri, Yo, Hu, titin, SOX1, recoverin, zic4, GAD65, and Tr (DNER) were tested, and all were negative. Serology and cerebrospinal fluid (CSF) tests for HIV, cryptococcus, syphilis, tuberculosis, bacteria, fungus, and virus showed no evidence of inflammation. In addition, CSF 14-3-3 protein was tested to be negative. RT-QuIC tests of skin and CSF were also negative (Figure 2).
Diffusion-weighted imaging (DWI) sequences displayed restricted diffusion in the bilateral frontal and parietal cortex (Figures 3A-D). DWI hyperintensities were revealed in the bilateral basal ganglia, bilateral pulvinar, and dorsomedial thalamus (Figures 3E-J). Fluorodeoxyglucose PET (FDG-PET) exhibited hypometabolism in the bilateral cerebral cortex and right basal ganglia (Figure 4).
An empiric course of pulse IV gamma globulin was tried without notable improvement.
At 22 months after onset, the hypermyotonia of the patient in the bilateral limbs became more obvious. He had occasional urinary incontinence, and his ability to study was relatively reserved when he scored 21 of 30 on the Chinese MMSE. The MRC Scale score was 13 of 20. The Hamilton's Depression Scale was 6. EEG showed diffuse slow waves. MRI scanning indicated no obvious change compared to images 2 months earlier.
A follow-up study with the MRC Scale revealed gradually developed aphasia, gait disorder, and fecal incontinence 30 months after onset. The patient is still alive, 4 years after the onset, while the MRC Scale score was 2 of 20, and his swallowing function and mobility were still preserved (Table 1).
The clinical features indicated that the patient might have prion disease. To determine the etiology of the disease, we extracted genome DNA from peripheral blood leucocytes of the patient and performed a direct DNA sequencing of the PRNP coding sequence. Unexpectedly, a rare mutation of G114V and 1-OPRD of the PrP in the patient was identified (Figure 5). Given that only a few patients with gCJD were reported to carry the G114V PRNP variant, we suspected that the mutation in the patient might be inherited from his parents, and we, thus, enrolled his immediate family members in this study for a genetic investigation.
Although the medical record was not available, the maternal grandmother (patient I-2) of the proband was found to have progressive dementia in her 60s, which was within 1 year before her death, and subsequently developed a tremor in her last few months. The proband's mother (carrier II-8) received examination when she was 61 years old, but no neuropsychiatric symptoms were observed. She scored 29 of 30 on the Chinese MMSE and 21 of 30 on the MoCA (Beijing Version). Although the EEG showed slow waves in the left temporal lobe, both cranial MRI (including DWI) and FDG-PET were unremarkable. A follow-up study revealed that she suffered an acute cerebral infarction in the callosum 18 months after the first examination. No cortical ribbon was found by DWI to date (Table 2). Whereas DNA sequencing revealed a G114V mutation and 1-OPRD of PrP in this individual. The elder son of the proband (carrier IV-1) received DNA sequencing at age 10, and G114V mutation and 1-OPRD were also found, although he did not show any clinical symptoms. No further examination was performed due to his age. No autopsy or biopsy were performed on any of the patients. | g114v mutation, prnp, genetic creutzfeldt-jakob disease, one octapeptide repeat deletions, prion | Not supported with pagination yet | null |
PMC5738199_01 | Male | 79 | A79-year-old Haitian man with a three-year history of painful oral ulcerations, progressive dysphagia, and weight loss who presented to our medical center directly after arrival from Haiti. On evaluation, the patient complained of acute worsening of oral pain, odynophagia, dysphagia and a two-week history of hoarseness. He also described weight loss, generalized weakness, and an intermittent non-pruritic, non-vesicular rash. The patient's past medical history was significant for hospitalization three years prior for diffuse oral ulcerations, dysphagia, and a wide-spread non-pruritic, keloid-like rash present on his torso and bilateral upper extremities. Nonspecific gastritis and a hiatal hernia were found on endoscopy; no further evaluation was performed and the patient was lost to follow-up. The patient traveled frequently between Haiti and New Jersey and had been a plantation farmer in Haiti since childhood. He worked primarily with vegetable crops, but had exposure to chickens, cows, and pigs. His sexual history was significant for multiple female sexual partners with only occasional condom use. He denied prior history of sexually transmitted diseases. He denied tobacco, alcohol, or illicit drug use.
On initial examination the patient was cachectic and appeared chronically ill. Vital signs included a temperature of 37.3 C, heart rate of 84 beats per minute, respiratory rate of 16, and blood pressure of 221/105 mmHg. Oxygen saturation was 100% on room air. His weight was 42.9 kg with a body mass index of 14.8. He had pronounced bitemporal wasting, bilateral erythema of the forehead and cheeks and diffuse left-sided facial swelling. Multiple 3-5 mm ulcerations were present throughout the oral cavity, including on the hard and soft palates, tongue, and buccal mucosa. There was diffuse oropharyngeal edema and mucosal pallor and dryness. He was breathing comfortably with no stridor or wheezing. Additional findings included bilateral anterior cervical chain lymphadenopathy and hypopigmented and hyperpigmented areas of skin on the thorax, abdomen and extremities, including the soles of both feet.
Significant laboratory findings included hyperkalemia (potassium 5.2 mg/dL), anemia (hemoglobin 11.6 g/dL) and hypoalbuminemia (albumin 3.3 mg/dL). Chest radiographs demonstrated pronounced airway narrowing and neck radiographs severe oropharyngeal and hypopharyngeal airway narrowing with subepiglottic stenosis. Computed tomography of the neck was performed and revealed diffuse thickening of the mucosal oropharynx, supraglottic larynx, aryepiglottic folds, piriform sinuses, and true/false vocal cords (Fig. 1, Fig. 2). Subsequent evaluation by otolaryngology with laryngoscopy revealed a granular edematous epiglottis, right aryepiglottic fold, and nasal vestibules without evidence of any distinct masses.
Malignancy, autoimmune, and infectious etiologies were considered and further diagnostic studies were obtained. HIV antigen/antibody testing, HTLV, HSV, CMV, and RPR antibody tests were negative. His CD4 count was 345 cells/muL (normal 300-1400 cells/muL) with a decreased CD4 percentage of 21.3% (normal 28-57%) and an inverted CD4/CD8 ratio of 0.35 (normal 1.0-3.6). Histoplasma urine antigen and serum complement fixation antibody were negative. Interferon-gamma release assay (QuantiFERON -TB Gold) was negative. Epstein-Barr virus IgM and IgG were both positive. ANA was positive at a low titer (1:160) with a non-specific pattern. C3 and C4 values were within normal limits. Anti-smith, anti-RNP, anti-SSA/SSB, and C1 esterase inhibitor antibodies were negative. Serum protein electrophoresis was notable for an elevated IgG level of 1964 nmg/dL, of which 30.7% was composed of gamma globulin. His sedimentation rate was 59 mm/h and C-reactive protein was 10 mg/L. Blood cultures, including fungal blood cultures, were negative. Throat cultures grew Klebsiella pneumoniae and Serratia marcescens.
Oral pharyngeal squamous cell carcinoma was considered the leading diagnosis and a biopsy of a labial mucosal ulcer was performed. Histologic examination of the biopsy revealed granulomatous mucositis with multinucleated giant cells containing multiple budding yeast forms (Fig. 3) that stained with Grocott's methenamine silver (Fig. 4) and were consistent with histoplasma species. Staining for acid-fast organisms was negative. Histoplasma was not recovered from tissue fungal cultures.
On histologic identification of yeast consistent with Histoplasma, therapy with daily intravenous liposomal amphotericin B (5 mg/kg daily) was initiated. Despite aggressive intravenous saline hydration, acute kidney injury developed after only three doses of amphotericin, necessitating a change in antifungal therapy to itraconazole suspension. Due to the patient's extensive oropharyngeal inflammation and failed fiberoptic endoscopic swallow evaluations, a percutaneous endoscopic gastrostomy was placed for nutrition and administration of itraconazole. Computed tomography of the chest, abdomen and pelvis obtained to evaluate for disseminated histoplasmosis were unremarkable. The patient had rapid clinical improvement in his symptoms with initiation of antifungal therapy. His serum itraconazole levels were measured and were therapeutic. He was discharged home with a planned 12-month course of itraconazole. | chronic progressive histoplasmosis, disseminated histoplasmosis, histoplasma, oropharyngeal histoplasmosis, urine antigen | Not supported with pagination yet | null |
PMC10311060_01 | Male | 9 | A 9-year-old previously healthy Syrian boy was admitted with a 1-day history of epistaxis, hematemesis, hematuria, and melena associated with periumbilical abdominal pain. He also has been complaining of pallor, decreased activity and appetite, and weight loss for a month prior to his presentation. A week before his admission, there was a noticeable increase in his pallor. Upon presentation, he was hypoactive, pale, and jaundiced. He was normothermic and hemodynamically stable. System examination revealed hepatosplenomegaly small palpable lymph node in the supraclavicular and inguinal region. The remainder of his physical examination was unremarkable.
His initial Laboratory tests at admission showed a picture of bi-cytopenia in the form of anemia and thrombocytopenia. Platelet 11 x 109/L (normal range: 150-400 x 109/L); hemoglobin 97 mg/L (normal range: 113-150 mg/J); white blood cells 10.2 x 109/L (normal range: 4-12 x 109/L); and reticulocyte counts 2.45% (normal range: 0.5%-1.5%). Peripheral blood smear showed red blood cell fragmentation (Schistocytes) at 1.45%, and white blood cells, mainly neutrophilia, displayed reactive changes in forms of toxic granulation.
Lactate dehydrogenase was 1,021 U/L (normal range: 125-220 U/L); aspartate aminotransferase 46 IU/L (normal range: 5-34 U/L); alkaline phosphatase 143 IU/L (normal range: 156-369 U/L); total bilirubin 41.3 micromol/L (normal range: ~20.5 micromol/L); and direct bilirubin 12.7 micromol/L (normal range: ~8.6 micromol/L). Blood urea nitrogen and creatinine were within normal limits. Urinalysis showed hematuria and hemoglobinuria. Coagulation screening tests were within the normal range; fibrinogen level was decreased to 1.72 g/L (normal range: 1.5-4.1 g/L); Coombs test was negative.
Initially, the patient was diagnosed with atypical idiopathic thrombocytopenic purpura (ITP) and treated with Intravenous Immunoglobulin (IVIG) 1 g/kg. He received two doses of IVIG without response, and his Hgb and platelet counts declined further.
In order to rule out bone marrow infiltration, bone marrow aspirations (BMA) and biopsy were performed. The preliminary report of the BMA did not suggest malignancy; however, it showed megakaryocytes which is suggestive of immune destruction. Therefore the patient was started on a six days trial of pulse steroid therapy (intravenous methylprednisolone 2 mg/kg/day divided twice a day), with no improvement in Hgb or platelet count. The final result of BMA revealed peripheral destruction of blood cells, indicating microangiopathic hemolytic anemia (MAHA), likely TTP, congenital or acquired due to an immune reaction to ADAMTS-13; this diagnosis was supported by repeated peripheral blood smear showing Schistocytes fragments of red blood cells >2.5% (Normal range <1.5%), accordingly a five days trial of fresh frozen plasma transfusion was initiated, in which the patient showed improvement in LDH and platelet levels.
In addition, bone marrow biopsy results showed morphologic evidence of frequent small epithelioid non-necrotizing granuloma. Considering that this is a nonspecific finding that could be attributed to various etiologies, including infections (viral, bacterial, and tuberculosis), infiltrating diseases such as sarcoidosis, and malignancies, further investigation has been pursued. Viral surveillance, including EBV, CMV, and HIV were negative. QuantiFERON-TB Gold was negative. Abdominal ultrasound and computerized chest and abdominal tomography (CT) scan showed splenomegaly with no significant lymph node enlargement. Since Brucella is endemic in Saudi Arabia and the patient had recently consumed a significant amount of unpasteurized goat milk and cheese, brucella titers were sent, and the result showed Brucella abortus 1:5,120 (normal range: <1:160), and Brucella melitensis 1:20,480 (normal range: <1:160).
A combination of Doxycycline (5 mg/kg/day orally twice a day) and Rifampin (20 mg/kg/day orally twice a day) antimicrobial therapy was commenced for a total of 6 weeks (42 days) to treat brucellosis. Once starting the anti-brucellosis management, the patient did not require further FFP transfusion. The ADAMTS-13 essay result showed: extremely low ADAMTS-13 activity, which was found at 0.02 IU/ml (normal range: 0.40-1.30 IU/ml), with an antigen assay below the detection level of 0.01 IU/ml (normal range: 0.41-1.41 IU/ml); and anti-ADAMTS-13 antibodies were detected at high concentrations of >95 IU/ml (>15 IU/ml is considered positive). All these findings, along with the presentation of thrombocytopenia and hemolysis, are specific to acquired TTP.
Several days following the commencement of antibiotic therapy, the platelets count and hemoglobin levels recovered to the normal range (Figure 1), while the lactate dehydrogenase levels decreased substantially to a normal level. | adamts-13 (a disentegrin-like and metalloprotease with thrombospondin type 1 motif), brucella, case report, microangiopathic hemolytic anemia (maha), thrombocytopenia, thrombotic thrombocitopenic purpura | Not supported with pagination yet | null |
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Multimodal Dataset of Tuberculosis Patients including CT and Clinical Case Reports
Zhankai Ye
NetID: zy172
Dataset Summary
This dataset is curated from the original “The MultiCaRe Dataset” to focus on the chest tuberculosis patients. This is a multimodal dataset consisting of lung computed tomography (CT) imaging data and the clinical case records of tuberculosis patients, along with their case keywords, the captions of their CT images, patient_id, gender, and age information.
Dataset Sources
- Homepage: https://zenodo.org/records/10079370
- DOI: 10.5281/zenodo.10079370
- Data article: https://www.sciencedirect.com/science/article/pii/S2352340923010351
Supported Tasks:
This dataset can be utilized for:
- Developing algorithms of the segmentation of chest CT images and the classification of tuberculosis positive or control.
- Developing novel natural language processing (NLP) methods and unsupervised machine learning methods to extract medical terms from clinical notes.
Languages:
English
Data Structure and Instance:
The data will follow the structure below: {
"case_id": "PMC10129030_01","gender": "male","age": 62,"case_text": "A 62-year-old man presented with acute dyspnea at rest, requiring high-flow…","keywords": "["dendriform pulmonary ossification", "lung transplant", "pulmonary fibrosis"]","pics_array": image"Caption": "coronal. chest CT shows ground-glass and reticular opacities in the dependent…" }
Data Fields:
- case_id (string): ID of the patient, created combining the PMC of the article plus a sequential number.
- gender (string): Gender of the patient. It can be either Female, Male, Transgender or Unknown.
- age (int): Age of the patient. Ages lower than 1 y.o. are assigned 0 as age.
- case_text (string): Self-explanatory.
- keywords (string): Keywords are taken from the keywords section that is sometimes available in the content of the article.
- pics_array (int): image
- Caption (string): Image caption.
Initial Data Collect and Preprocessing
- The original MultiCaRe Dataset, approximately 9GB in size, encompasses a diverse range of medical specialties including oncology, cardiology, surgery, and pathology. To create your tuberculosis-focused subset, the dataset undergoes a filtering process based on specific criteria:
- Case Report Selection: The selection criterion for case reports is the presence of keywords such as 'tuberculosis' or 'tb'. This ensures that only reports relevant to tuberculosis are included.
- Caption Filtering: The dataset is further refined by filtering captions that contain keywords like 'ct', 'lung', or 'chest'.
- Image Labeling: Finally, the images are chosen based on the presence of labels 'ct' and 'lung'. This dual-label requirement ensures that the selected images are relevant to CT scans of the lungs, which are instrumental in detecting and assessing tuberculosis.
- Through this meticulous filtering process, an initial tuberculosis dataset is compiled from the broader MultiCaRe Dataset. This dataset is messy, contains many diffferent files.
- To enhance the quality and relevance of the tuberculosis dataset, additional processing steps are implemented after in the Hugging Face python script after the initial filtration from the MultiCaRe Dataset:
- Exclusion of Records with Missing Age Information.
- Merge of data from difference files, including .csv, .JSON, and .jpg.
Social Impact
The multimodal dataset of tuberculosis patients, meticulously curated from the larger MultiCaRe Dataset, stands to have a significant social impact, particularly in the field of public health and medical research. Tuberculosis (TB) remains a major global health issue, especially in low- and middle-income countries, and the integration of CT imaging with clinical case reports in this dataset provides a rich resource for advanced diagnostic and treatment research. By facilitating the development of more precise algorithms for CT image segmentation and classification, as well as enhancing natural language processing (NLP) techniques for extracting medical terms from clinical notes, this dataset has the potential to improve the accuracy and efficiency of TB diagnosis.
Personal and Sensitive Information
Case reports are designed with the intention of being publicly accessible, and as a result, they deliberately omit any personal identifying details of the patients to ensure their privacy and confidentiality.
Bias, Risks, and Limitations
Bias
- Selection Bias: The original MultiCaRe Dataset was generated from 75,382 open access PubMed Central articles spanning the period from 1990 to 2023. Therefore, the random sampling of the cases from difference demographic groups cannot be guaranteed. The data may have bias as the collection process was not representative of the broader population. For example, the dataset may predominantly includes cases from a specific geographic location, age group, or socioeconomic status, and the findings may not apply to other groups.
- Technology Bias: Advanced imaging technologies might not be equally available in all settings, leading to a dataset that disproportionately represents patients from better-equipped facilities. This can skew the dataset towards conditions that are more likely to be diagnosed in such settings.
- Interpreter Bias: For the
"case_text"and the"caption", variability in the expertise and experience of radiologists or clinicians interpreting the images can lead to differences in diagnosis or findings reported in the dataset.
Risks
- Privacy and Confidentiality Risks: Patient data, including case records and images, are highly sensitive. There's a risk of identifying individuals even if the data is properly anonymized.
- Data Integrity and Quality Risks: Inaccuracies, missing data, and inconsistencies within the dataset can compromise the validity of research findings or clinical decisions based on the data. This could lead to ineffective or harmful interventions.
Limitations
- Data Quality:
- For textual data, certain patient records are missing key descriptive terms. Meanwhile, cases where imaging studies were not conducted lack both the images and their respective descriptive captions.
- Regarding images, a primary concern is also the incomplete nature of the dataset, as images do not accompany all patient records. Additionally, the image resolution varies, which can impede detailed examination. The inconsistency in image sizes and variations in the positioning of patient photographs may also pose challenges for consistent image analysis.
Citation
@dataset{NievasOffidani2023MultiCaRe,
author = {Nievas Offidani, M. and Delrieux, C.},
title = {The MultiCaRe Dataset: A Multimodal Case Report Dataset with Clinical Cases, Labeled Images and Captions from Open Access PMC Articles},
year = {2023},
version = {1.0},
publisher = {Zenodo},
doi = {10.5281/zenodo.10079370},
url = {https://doi.org/10.5281/zenodo.10079370},
}
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