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Who is at risk for Breast Cancer? ?

What Is Cancer Prevention? Cancer prevention is action taken to lower the chance of getting cancer. By preventing cancer, the number of new cases of cancer in a group or population is lowered. Hopefully, this will lower the number of deaths caused by cancer. When studying ways to prevent cancer, scientists look at risk factors and protective factors. Anything that increases your chance of developing cancer is called a cancer risk factor. Anything that decreases your chance of developing cancer is called a cancer protective factor. Risk Factors Some risk factors for cancer can be avoided, but many cannot. For example, both smoking and inheriting certain genes are risk factors for some types of cancer, but only smoking can be avoided. Regular exercise and a healthy diet may be protective factors for some types of cancer. Avoiding risk factors and increasing protective factors may lower your risk but it does not mean that you will not get cancer. Different ways to prevent cancer are being studied, including - changing lifestyle or eating habits - avoiding things known to cause cancer - taking medicine to treat a precancerous condition or to keep cancer from starting. changing lifestyle or eating habits avoiding things known to cause cancer taking medicine to treat a precancerous condition or to keep cancer from starting. (For more on risk factors, see the chapter on "Risk Factors.") Here are protective factors for breast cancer. Less Exposure to Estrogen Decreasing the length of time a woman's breast tissue is exposed to estrogen may help lower her risk of developing breast cancer. Exposure to estrogen is reduced in the following ways. - Early pregnancy. Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. - Breast-feeding. Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. - Surgical removal of the ovaries. The ovaries make estrogen. The amount of estrogen made by the body can be greatly reduced by removing one or both ovaries. Also, drugs may be taken to lower the amount of estrogen made by the ovaries. - Late menstruation. Menstrual periods that start at age 14 or older decreases the number of years the breast tissue is exposed to estrogen. - Early menopause. The fewer years a woman menstruates, the shorter the time her breast tissue is exposed to estrogen. Early pregnancy. Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. Breast-feeding. Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. Surgical removal of the ovaries. The ovaries make estrogen. The amount of estrogen made by the body can be greatly reduced by removing one or both ovaries. Also, drugs may be taken to lower the amount of estrogen made by the ovaries. Late menstruation. Menstrual periods that start at age 14 or older decreases the number of years the breast tissue is exposed to estrogen. Early menopause. The fewer years a woman menstruates, the shorter the time her breast tissue is exposed to estrogen. Exercise Women who exercise four or more hours a week have a lower risk of breast cancer. The effect of exercise on breast cancer risk may be greatest in premenopausal women who have normal or low body weight. Learn more about the benefits of exercise for older adults. For exercises tailored to older adults, visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging (NIA) at NIH. Estrogen-only Hormone Therapy After Hysterectomy Hormone therapy with estrogen only may be given to women who have had a hysterectomy. In these women, estrogen-only therapy after menopause may decrease the risk of breast cancer. There is an increased risk of stroke and heart and blood vessel disease in postmenopausal women who take estrogen after a hysterectomy. Learn about menopausal hormone therapy and cancer. Selective Estrogen Receptor Modulators (SERMs) Tamoxifen and raloxifene belong to the family of drugs called selective estrogen receptor modulators (SERMs). SERMs act like estrogen on some tissues in the body, but block the effect of estrogen on other tissues. Treatment with tamoxifen or raloxifene lowers the risk of breast cancer in postmenopausal women. Tamoxifen also lowers the risk of breast cancer in high-risk premenopausal women. With either drug, the reduced risk lasts for several years after treatment is stopped. Lower rates of broken bones have been noted in patients taking raloxifene. Prophylactic Mastectomy Some women who have a high risk of breast cancer may choose to have a prophylactic mastectomy (the removal of both breasts when there are no signs of cancer). The risk of breast cancer is much lower in these women and most feel less anxious about their risk of breast cancer. However, it is very important to have cancer risk assessment and counseling about the different ways to prevent breast cancer before making this decision. Learn more about surgery to reduce the risk of breast cancer. Prophylactic Oophorectomy Premenopausal women who have a high risk of breast cancer due to certain changes in the BRCA1 and BRCA2 genes may choose to have a prophylactic oophorectomy (the removal of both ovaries when there are no signs of cancer). This decreases the amount of estrogen made by the body and lowers the risk of breast cancer. Prophylactic oophorectomy also lowers the risk of breast cancer in normal premenopausal women and in women with an increased risk of breast cancer due to radiation to the chest. However, it is very important to have cancer risk assessment and counseling before making this decision. The sudden drop in estrogen levels may cause the symptoms of menopause to begin. These include hot flashes, trouble sleeping, anxiety, and depression. Long-term effects include decreased sex drive, vaginal dryness, and decreased bone density. Unclear As Risk Factors It is not clear whether the following affect the risk of breast cancer. - Oral contraceptives. Taking oral contraceptives ("the pill") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Some oral contraceptives contain estrogen. Progestin-only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. - Environment. Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. Oral contraceptives. Taking oral contraceptives ("the pill") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Some oral contraceptives contain estrogen. Progestin-only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. Environment. Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. For More Information Clinical trials are taking place in many parts of the country. Information about clinical trials can be found at http://www.cancer.gov/clinicaltrials on the website of the National Cancer Institute (NCI). Check NCI's list of cancer clinical trials for breast cancer prevention trials that are now accepting patients.

How to diagnose Breast Cancer ?

Most cancers in their early, most treatable stages do not cause any symptoms. That is why it's important to have regular tests to check for cancer long before you might notice anything wrong. Detecting Breast Cancer Through Screening When breast cancer is found early, it is more likely to be treated successfully. Checking for cancer in a person who does not have any symptoms is called screening. Screening tests for breast cancer include, among others, clinical breast exams and mammograms. Recent studies have shown that ultrasound and MRI's may also be useful complementary screening tools, particularly in women with mammograms that are not definitive. During a clinical breast exam, the doctor or other health care professional checks the breasts and underarms for lumps or other changes that could be a sign of breast cancer. A mammogram is a special x-ray of the breast that often can detect cancers that are too small for a woman or her doctor to feel. (Watch the video to learn more about digital mammography and dense breasts. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Who Should Have a Mammography? Several studies show that mammography screening has reduced the number of deaths from breast cancer. However, some other studies have not shown a clear benefit from mammography. Scientists are continuing to examine the level of benefit that mammography can produce. The U.S. Preventive Services Task Force (USPSTF) recommends a screening mammography for women 50-74 years every two years. Learn more about the USPSTF mammography recommendations here. Between 5 and 10 percent of mammogram results are abnormal and require more testing. Most of these follow-up tests confirm that no cancer was present. Worried about the cost of a mammogram? Learn about free and low-cost screenings. (Centers for Disease Control and Prevention) How Biopsies are Performed If needed, the most common follow-up test a doctor will recommend is called a biopsy. This is a procedure where a small amount of fluid or tissue is removed from the breast to make a diagnosis. A doctor might perform fine needle aspiration, a needle or core biopsy, or a surgical biopsy. - With fine needle aspiration, doctors numb the area and use a thin needle to remove fluid and/or cells from a breast lump. If the fluid is clear, it may not need to be checked out by a lab. - For a needle biopsy, sometimes called a core biopsy, doctors use a needle to remove tissue from an area that looks suspicious on a mammogram but cannot be felt. This tissue goes to a lab where a pathologist examines it to see if any of the cells are cancerous. - In a surgical biopsy, a surgeon removes a sample of a lump or suspicious area. Sometimes it is necessary to remove the entire lump or suspicious area, plus an area of healthy tissue around the edges. The tissue then goes to a lab where a pathologist examines it under a microscope to check for cancer cells. With fine needle aspiration, doctors numb the area and use a thin needle to remove fluid and/or cells from a breast lump. If the fluid is clear, it may not need to be checked out by a lab. For a needle biopsy, sometimes called a core biopsy, doctors use a needle to remove tissue from an area that looks suspicious on a mammogram but cannot be felt. This tissue goes to a lab where a pathologist examines it to see if any of the cells are cancerous. In a surgical biopsy, a surgeon removes a sample of a lump or suspicious area. Sometimes it is necessary to remove the entire lump or suspicious area, plus an area of healthy tissue around the edges. The tissue then goes to a lab where a pathologist examines it under a microscope to check for cancer cells. Another type of surgical biopsy that removes less breast tissue is called an image-guided needle breast biopsy, or stereotactic biopsy. Eighty percent of U.S. women who have a surgical breast biopsy do not have cancer. However, women who have breast biopsies are at higher risk of developing breast cancer than women who have never had a breast biopsy. Other Detection Methods Magnetic resonance imaging, or MRI, and ultrasound are two other techniques which, as supplements to standard mammography, might help detect breast cancer with greater accuracy. Genetic Detection The most comprehensive study to date of gene mutations in breast cancer, published in September 2012, confirmed that there are four primary subtypes of breast cancer, each with its own biology. The four groups are called intrinsic subtypes of breast cancer and include HER2-enriched (HER2E), Luminal A (LumA), Luminal B (LumB) and Basal-like. The outlook for survival is different for each of these subtypes of breast cancer. Researchers found that one subtype, Basal-like breast cancer, shares many genetic features with a form of ovarian cancer, and that both may respond similarly to drugs that reduce tumor growth or target DNA repair. The authors hope that discovery of these mutations will be an important step in the effort to improve therapies for breast cancer. For the time being, there are no genetic tests that are commercially available based solely on these findings. Soon, however, knowing extensively which breast cancer gene mutations a woman has should help guide precision treatment.

What are the treatments for Breast Cancer ?

There are many treatment options for women with breast cancer. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the breast, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists People with cancer often are treated by a team of specialists. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. (Watch the video about this breast cancer survivor's treatment. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Clinical Trials for Breast Cancer Some breast cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Women with breast cancer who are interested in taking part in a clinical trial should talk to their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. See a list of the current clinical trials on breast cancer.

What are the treatments for Breast Cancer ?

There are a number of treatments for breast cancer, but the ones women choose most often -- alone or in combination -- are surgery, hormone therapy, radiation therapy, and chemotherapy. What Standard Treatments Do Here is what the standard cancer treatments are designed to do. - Surgery takes out the cancer and some surrounding tissue. - Hormone therapy keeps cancer cells from getting most of the hormones they need to survive and grow. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. - Chemotherapy uses anti-cancer drugs to kill most cancer cells. Surgery takes out the cancer and some surrounding tissue. Hormone therapy keeps cancer cells from getting most of the hormones they need to survive and grow. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. Chemotherapy uses anti-cancer drugs to kill most cancer cells. Treatment for breast cancer may involve local or whole body therapy. Doctors use local therapies, such as surgery or radiation, to remove or destroy breast cancer in a specific area. Whole body, or systemic, treatments like chemotherapy, hormonal, or biological therapies are used to destroy or control cancer throughout the body. Some patients have both kinds of treatment. Treating Early-Stage Breast Cancer If you have early-stage breast cancer, one common treatment available to you is a lumpectomy combined with radiation therapy. A lumpectomy is surgery that preserves a woman's breast. In a lumpectomy, the surgeon removes only the tumor and a small amount of the surrounding tissue. The survival rate for a woman who has this therapy plus radiation is similar to that for a woman who chooses a radical mastectomy, which is complete removal of a breast. If Cancer Has Spread Locally If you have breast cancer that has spread locally -- just to other parts of the breast -- your treatment may involve a combination of chemotherapy and surgery. Doctors usually first shrink the tumor with chemotherapy and then remove it through surgery. Shrinking the tumor before surgery may allow a woman to avoid a mastectomy and keep her breast. In the past, doctors would remove a lot of lymph nodes near breast tumors to see if the cancer had spread. Some doctors also use a method called sentinel node biopsy. Using a dye or radioactive tracer, surgeons locate the first or sentinel lymph node closest to the tumor, and remove only that node to see if the cancer has spread. If Cancer Has Spread Beyond the Breast If the breast cancer has spread to other parts of the body, such as the lung or bone, you might receive chemotherapy and/or hormonal therapy to destroy cancer cells and control the disease. Radiation therapy may also be useful to control tumors in other parts of the body. Get more information about treatment options for breast cancer and for recurrent breast cancer.

what research (or clinical trials) is being done for Breast Cancer ?

New Technologies Several new technologies offer hope for making future treatment easier for women with breast cancer. - Using a special tool, doctors can today insert a miniature camera through the nipple and into a milk duct in the breast to examine the area for cancer. Using a special tool, doctors can today insert a miniature camera through the nipple and into a milk duct in the breast to examine the area for cancer. - Researchers are testing another technique to help women who have undergone weeks of conventional radiation therapy. Using a small catheter -- a tube with a balloon tip -- doctors can deliver tiny radioactive beads to a place on the breast where cancer tissue has been removed. This can reduce the therapy time to a matter of days. Researchers are testing another technique to help women who have undergone weeks of conventional radiation therapy. Using a small catheter -- a tube with a balloon tip -- doctors can deliver tiny radioactive beads to a place on the breast where cancer tissue has been removed. This can reduce the therapy time to a matter of days. New Drug Combination Therapies New drug therapies and combination therapies continue to evolve. - A mix of drugs may increase the length of time you will live or the length of time you will live without cancer. It may someday prove useful for some women with localized breast cancer after they have had surgery. A mix of drugs may increase the length of time you will live or the length of time you will live without cancer. It may someday prove useful for some women with localized breast cancer after they have had surgery. - New research shows women with early-stage breast cancer who took the drug letrozole, an aromatase inhibitor, after they completed five years of tamoxifen therapy significantly reduced their risk of breast cancer recurrence. New research shows women with early-stage breast cancer who took the drug letrozole, an aromatase inhibitor, after they completed five years of tamoxifen therapy significantly reduced their risk of breast cancer recurrence. Treating HER2-Positive Breast Cancer Herceptin is a drug commonly used to treat women who have a certain type of breast cancer. This drug slows or stops the growth of cancer cells by blocking HER2, a protein found on the surface of some types of breast cancer cells. Approximately 20 to 25 percent of breast cancers produce too much HER2. These "HER2 positive" tumors tend to grow faster and are generally more likely to return than tumors that do not overproduce HER2. Results from clinical trials show that those patients with early-stage HER2 positive breast cancer who received Herceptin in combination with chemotherapy had a 52 percent decrease in risk in the cancer returning compared with patients who received chemotherapy treatment alone. Cancer treatments like chemotherapy can be systemic, meaning they affect whole tissues, organs, or the entire body. Herceptin, however, was the first drug used to target only a specific molecule involved in breast cancer. Another drug, Tykerb, was approved by the U.S. Food and Drug Administration for use for treatment of HER2-positive breast cancer. Because of the availability of these two drugs, an international trial called ALTTO was designed to determine if one drug is more effective, safer, and if taking the drugs separately, in tandem order, or together is better. Unfortunately, the results, released in 2014, showed that taking two HER2-targeted agents together was no better than taking one alone in improving survival. The TAILORx Trial In an attempt to further specialize breast cancer treatment, The Trial Assigning Individualized Options for Treatment, or TAILORx, enrolled 10,000 women to examine whether appropriate treatment can be assigned based on genes that are frequently associated with risk of recurrence of breast cancer. The goal of TAILORx is important because the majority of women with early-stage breast cancer are advised to receive chemotherapy in addition to radiation and hormonal therapy, yet research has not demonstrated that chemotherapy benefits all of them equally. TAILORx seeks to examine many of a woman's genes simultaneously and use this information in choosing a treatment course, thus sparing women unnecessary treatment if chemotherapy is not likely to be of substantial benefit to them.

What is (are) Breast Cancer ?

The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous.

What is (are) Breast Cancer ?

Breast cancer occurs when a malignant tumor forms in the breast tissue. The cancer can be found in the breast itself or in the ducts and lymph nodes that surround the breast.

What is (are) Breast Cancer ?

When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this "distant" disease.

Who is at risk for Breast Cancer? ?

Did You Know: Breast Cancer Statistics? Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. Today, more women are surviving breast cancer than ever before. Over two million women are breast cancer survivors. (Watch the video to learn more about breast cancer survival rates. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Men can get breast cancer too, although they account for only one percent of all reported cases. Read more about breast cancer in men.

What are the symptoms of Breast Cancer ?

When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - a dimple or puckering in the skin of the breast - a nipple turned inward into the breast - fluid, other than breast milk, from the nipple, especially if it's bloody - scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) - dimples in the breast that look like the skin of an orange. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast a dimple or puckering in the skin of the breast a nipple turned inward into the breast fluid, other than breast milk, from the nipple, especially if it's bloody scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) dimples in the breast that look like the skin of an orange. Don't Ignore Symptoms You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible. Some women believe that as they age, health problems are due to "growing older." Because of this myth, many illnesses go undiagnosed and untreated. Don't ignore your symptoms because you think they are not important or because you believe they are normal for your age. Talk to your doctor.

What is (are) Breast Cancer ?

One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. However, women whose cancer is diagnosed at a late stage, after it has spread to other parts of the body, have only a 23.3 percent chance of surviving 5 years. To learn more about what happens after treatment, see Surviving Cancer.

Who is at risk for Breast Cancer? ?

Risk factors are conditions or agents that increase a person's chances of getting a disease. Here are the most common risk factors for breast cancer. - Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. - Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. - Never being pregnant or having your first child in your mid-30s or later. - Early menstruation. Having your first menstrual period before age 12. - Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. - Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. - Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. - Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. - Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. - Gaining weight after menopause, especially after natural menopause and/or after age 60. - Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. - Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. Never being pregnant or having your first child in your mid-30s or later. Early menstruation. Having your first menstrual period before age 12. Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. Gaining weight after menopause, especially after natural menopause and/or after age 60. Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Get information about the BRCA1 and BRCA2 genetic mutations and testing for them. This chart shows what the approximate chances are of a woman getting invasive breast cancer in her lifetime.

How to prevent Breast Cancer ?

When studying ways to prevent breast cancer, scientists look at risk factors and protective factors. Anything that increases your chance of developing cancer is called a cancer risk factor. Anything that decreases your chance of developing cancer is called a cancer protective factor. Some risk factors for cancer can be avoided, but many cannot. For example, both smoking and inheriting certain genes are risk factors for some types of cancer, but only smoking can be avoided. Regular exercise and a healthy diet may be protective factors for some types of cancer. Avoiding risk factors and increasing protective factors may lower your risk but it does not mean that you will not get cancer. Different ways to prevent cancer are being studied, including - changing lifestyle or eating habits - avoiding things known to cause cancer - taking medicine to treat a precancerous condition or to keep cancer from starting. changing lifestyle or eating habits avoiding things known to cause cancer taking medicine to treat a precancerous condition or to keep cancer from starting.

What are the symptoms of Breast Cancer ?

When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - ridges or pitting of the breast; the skin looks like the skin of an orange - a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly - nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast ridges or pitting of the breast; the skin looks like the skin of an orange a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible.

What is (are) Breast Cancer ?

A mammogram can often detect breast changes in women who have no signs of breast cancer. Often, it can find a breast lump before it can be felt. If the results indicate that cancer might be present, your doctor will advise you to have a follow-up test called a biopsy.

Who is at risk for Breast Cancer? ?

The risks of breast cancer screening tests include the following. - Finding breast cancer may not improve health or help a woman live longer. Screening may not help you if you have fast-growing breast cancer or if it has already spread to other places in your body. Also, some breast cancers found on a screening mammogram may never cause symptoms or become life-threatening. Finding these cancers is called overdiagnosis. Finding breast cancer may not improve health or help a woman live longer. Screening may not help you if you have fast-growing breast cancer or if it has already spread to other places in your body. Also, some breast cancers found on a screening mammogram may never cause symptoms or become life-threatening. Finding these cancers is called overdiagnosis. - False-negative test results can occur. Screening test results may appear to be normal even though breast cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. False-negative test results can occur. Screening test results may appear to be normal even though breast cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. - False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isnt) is usually followed by more tests (such as biopsy), which also have risks. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isnt) is usually followed by more tests (such as biopsy), which also have risks. - Anxiety from additional testing may result from false positive results. In one study, women who had a false-positive screening mammogram followed by more testing reported feeling anxiety 3 months later, even though cancer was not diagnosed. However, several studies show that women who feel anxiety after false-positive test results are more likely to schedule regular breast screening exams in the future. Anxiety from additional testing may result from false positive results. In one study, women who had a false-positive screening mammogram followed by more testing reported feeling anxiety 3 months later, even though cancer was not diagnosed. However, several studies show that women who feel anxiety after false-positive test results are more likely to schedule regular breast screening exams in the future. - Mammograms expose the breast to radiation. Being exposed to radiation is a risk factor for breast cancer. The risk of breast cancer from radiation exposure is higher in women who received radiation before age 30 and at high doses. For women older than 40 years, the benefits of an annual screening mammogram may be greater than the risks from radiation exposure. Mammograms expose the breast to radiation. Being exposed to radiation is a risk factor for breast cancer. The risk of breast cancer from radiation exposure is higher in women who received radiation before age 30 and at high doses. For women older than 40 years, the benefits of an annual screening mammogram may be greater than the risks from radiation exposure. - There may be pain or discomfort during a mammogram. During a mammogram, the breast is placed between 2 plates that are pressed together. Pressing the breast helps to get a better x-ray of the breast. Some women have pain or discomfort during a mammogram. There may be pain or discomfort during a mammogram. During a mammogram, the breast is placed between 2 plates that are pressed together. Pressing the breast helps to get a better x-ray of the breast. Some women have pain or discomfort during a mammogram. Some women worry about radiation exposure, but the risk of any harm from a mammogram is actually quite small. The doses of radiation used are very low and considered safe. The exact amount of radiation used during a mammogram will depend on several factors. For instance, breasts that are large or dense will require higher doses to get a clear image. Learn more about the risks of breast cancer screening.

What are the treatments for Breast Cancer ?

You can seek conventional treatment from a specialized cancer doctor, called an oncologist. The oncologist will usually assemble a team of specialists to guide your therapy. Besides the oncologist, the team may include a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. You might also be eligible to enroll in a clinical trial to receive treatment that conventional therapies may not offer.

what research (or clinical trials) is being done for Breast Cancer ?

Clinical trials are research studies on people to find out whether a new drug or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the studies are treated as safely as possible. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found at http://www.cancer.gov/clinicaltrials on the website of the National Cancer Institute (NCI). Check NCI's list of cancer clinical trials for breast cancer prevention trials that are now accepting patients.

What are the treatments for Breast Cancer ?

Once breast cancer has been found, it is staged. Staging means determining how far the cancer has progressed. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is in the breast. - if the cancer has spread within the breast. - if cancer is present in the lymph nodes under the arm. - If cancer is present in other parts of the body. the size of the tumor and exactly where it is in the breast. if the cancer has spread within the breast. if cancer is present in the lymph nodes under the arm. If cancer is present in other parts of the body. Read more details about the stages of breast cancer.

What are the treatments for Breast Cancer ?

Standard treatments for breast cancer include - surgery that takes out the cancer and some surrounding tissue - radiation therapy that uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. - chemotherapy that uses anti-cancer drugs to kill cancer most cells - hormone therapy that keeps cancer cells from getting most of the hormones they need to survive and grow. surgery that takes out the cancer and some surrounding tissue radiation therapy that uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. chemotherapy that uses anti-cancer drugs to kill cancer most cells hormone therapy that keeps cancer cells from getting most of the hormones they need to survive and grow. (Watch the video to learn about one breast cancer survivor's story. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)

What is (are) Breast Cancer ?

There are two types of breast-conserving surgery -- lumpectomy and partial mastectomy. - Lumpectomy is the removal of the tumor and a small amount of normal tissue around it. A woman who has a lumpectomy almost always has radiation therapy as well. Most surgeons also take out some of the lymph nodes under the arm. Lumpectomy is the removal of the tumor and a small amount of normal tissue around it. A woman who has a lumpectomy almost always has radiation therapy as well. Most surgeons also take out some of the lymph nodes under the arm. - Partial or segmental mastectomy is removal of the cancer, some of the breast tissue around the tumor, and the lining over the chest muscles below the tumor. Often, surgeons remove some of the lymph nodes under the arm. In most cases, radiation therapy follows. Partial or segmental mastectomy is removal of the cancer, some of the breast tissue around the tumor, and the lining over the chest muscles below the tumor. Often, surgeons remove some of the lymph nodes under the arm. In most cases, radiation therapy follows.

What are the treatments for Breast Cancer ?

Even if the surgeon removes all of the cancer that can be seen at the time of surgery, a woman may still receive follow-up treatment. This may include radiation therapy, chemotherapy, or hormone therapy to try to kill any cancer cells that may be left. Treatment that a patient receives after surgery to increase the chances of a cure is called adjuvant therapy.

What are the treatments for Breast Cancer ?

Radiation therapy uses high-energy x-rays or other types of radiation to kill cancer cells and shrink tumors. This therapy often follows a lumpectomy, and is sometimes used after mastectomy. During radiation therapy, a machine outside the body sends high-energy beams to kill the cancer cells that may still be present in the affected breast or in nearby lymph nodes. Doctors sometimes use radiation therapy along with chemotherapy, or before or instead of surgery.

What are the treatments for Breast Cancer ?

Chemotherapy is the use of drugs to kill cancer cells. A patient may take chemotherapy by mouth in pill form, or it may be put into the body by inserting a needle into a vein or muscle. Chemotherapy is called whole body or systemic treatment if the drug(s) enter the bloodstream, travel through the body, and kill cancer cells throughout the body. Treatment with standard chemotherapy can be as short as two months or as long as two years. Targeted therapies, usually in pill form, have become more common and focus on either a gene or protein abnormality and usually have few adverse side-effects as they directly affect the abnormality and not other cells or tissues in the body. Sometimes chemotherapy is the only treatment the doctor will recommend. More often, however, chemotherapy is used in addition to surgery, radiation therapy, and/or biological therapy.

What are the treatments for Breast Cancer ?

Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body. Often, women with early-stage breast cancer and those with metastatic breast cancer -- meaning cancer that has spread to other parts of the body -- receive hormone therapy in the form of tamoxifen. Hormone therapy with tamoxifen or estrogens can act on cells all over the body. However, it may increase the chance of developing endometrial cancer. If you take tamoxifen, you should have a pelvic examination every year to look for any signs of cancer. A woman should report any vaginal bleeding, other than menstrual bleeding, to her doctor as soon as possible.

What are the treatments for Breast Cancer ?

Certain drugs that have been used successfully in other cancers are now being used to treat some breast cancers. A mix of drugs may increase the length of time you will live, or the length of time you will live without cancer. In addition, certain drugs like Herceptin and Tykerb taken in combination with chemotherapy, can help women with specific genetic breast cancer mutations better than chemotherapy alone.

What is (are) Problems with Taste ?

Taste, or gustation, is one of our most robust senses. Although there is a small decline in taste in people over 60, most older people will not notice it because normal aging does not greatly affect our sense of taste. Problems with taste occur less frequently than problems with smell. How Our Sense of Taste Works Our sense of taste, along with our sense of smell, is part of our chemical sensing system. Normal taste occurs when tiny molecules released by chewing or the digestion of food stimulate special sensory cells in the mouth and throat. These taste cells, or gustatory cells, send messages through three specialized taste nerves to the brain, where specific tastes are identified. Damage to these nerves following head injury can lead to taste loss. The taste cells are clustered within the taste buds of the tongue and roof of the mouth, and along the lining of the throat. Many of the small bumps that can be seen on the tip of the tongue contain taste buds. At birth, we have about 10,000 taste buds scattered on the back, sides, and tip of the tongue. After age 50, we may start to lose taste buds. Five Taste Sensations We can experience five basic taste sensations: sweet, sour, bitter, salty, and umami, or savory. Umami is the taste we get from glutamate, a building block of protein found in chicken broth, meat stock, and some cheeses. Umami is also the taste associated wtih MSG (monosodium glutamate) that is often added to foods as a flavor enhancer. The five taste qualities combine with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor. It is flavor that lets us know whether we are eating an apple or a pear. Flavors and the Sense of Smell Many people are surprised to learn that we recognize flavors largely through our sense of smell. Try holding your nose while eating chocolate. You will be able to distinguish between its sweetness and bitterness, but you can't identify the chocolate flavor. That's because the distinguishing characteristic of chocolate is largely identified by our sense of smell as aromas are released during chewing. Food flavor is affected by a head cold or nasal congestion because the aroma of food does not reach the sensory cells that detect odors. More information on this topic can be found in the topic Problems With Smell Smell and Taste Closely Linked Smell and taste are closely linked senses. Many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with smell. It is common for people who lose their sense of smell to say that food has lost its taste. This is incorrect; the food has lost its aroma, but taste remains. In older people, there is a normal decline in the sense of smell and the taste of food shifts toward blandness. This is why people often believe they have a taste problem. When Taste is Impaired Problems with taste can have a big impact on an older person's life. Because taste affects the amount and type of food we eat, when there are problems with taste, a person may change his or her eating habits. Some people may eat too much and gain weight, while others may eat too little and lose weight. A loss of appetite, especially in older adults, can lead to loss of weight, poor nutrition, weakened immunity, and even death. Taste helps us detect spoiled food or liquids and it also helps some people detect ingredients they are allergic to. A problem with taste can weaken or remove an early warning system that most of us take for granted. A distorted sense of taste can be a serious risk factor for illnesses that require sticking to a specific diet. Loss of taste can cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with such illnesses as diabetes or high blood pressure. In severe cases, loss of taste can lead to depression. Taste Problems Are Often Temporary When an older person has a problem with taste, it is often temporary and minor. True taste disorders are uncommon. When a problem with taste exists, it is usually caused by medications, disease, some cancer treatments, or injury. Many older people believe that there is nothing they can do about their weakened sense of taste. If you think you have a problem with your sense of taste, see your doctor. Depending on the cause of your problem, your doctor may be able to suggest ways to regain your sense of taste or to cope with the loss of taste.

What causes Problems with Taste ?

Loss of taste may be permanent or temporary, depending on the cause. As with vision and hearing, people gradually lose their ability to taste as they get older, but it is usually not as noticeable as loss of smell. Medications and illness can make the normal loss of taste worse. Common Causes Problems with taste are caused by anything that interrupts the transfer of taste sensations to the brain, or by conditions that affect the way the brain interprets the sensation of taste. Some people are born with taste disorders, but most develop them after an injury or illness. Among the causes of taste problems are - medications - upper respiratory and middle ear infections - radiation for treatment of head and neck cancers - exposure to certain chemicals - head injury - some surgeries - poor oral hygiene and dental problems - smoking. medications upper respiratory and middle ear infections radiation for treatment of head and neck cancers exposure to certain chemicals head injury some surgeries poor oral hygiene and dental problems smoking. In many cases, people regain their sense of taste when they stop taking medications or when the illness or injury clears up. Medications.Taking medications can affect our ability to taste. Some antibiotics and antihistamines as well as other medications can cause a bad taste in the mouth or a loss of taste. One type of taste disorder is characterized by a persistent bad taste in the mouth, such as a bitter or salty taste. This is called dysgeusia and it occurs in older people, usually because of medications or oral health problems. Upper Respiratory and Middle Ear Infections. Respiratory infections such as the flu can lead to taste disorders. Radiation for Head and Neck Cancers. People with head and neck cancers who receive radiation treatment to the nose and mouth regions commonly experience problems with their sense of smell and taste as an unfortunate side effect. Older people who have lost their larynx or voice box commonly complain of poor ability to smell and taste. Exposure to Certain Chemicals. Sometimes exposure to certain chemicals, such as insecticides and solvents, can impair taste. Avoid contact with these substances, and if you do come in contact with them and experience a problem, see your doctor. Head Injury. Previous surgery or trauma to the head can impair your sense of taste because the taste nerves may be cut, blocked or physically damaged. Some Surgeries. Some surgeries to the ear nose and throat can impair taste. These include third molarwisdom toothextraction and middle ear surgery. Poor Oral Hygiene and Dental Problems. Gum disease can cause problems with taste and so can can dentures and inflammation or infections in the mouth. If you take several medications, your mouth may produce less saliva. This causes dry mouth, which can make swallowing and digestion difficult and increase dental problems. Practice good oral hygiene, keep up to date with your dental appointments, and tell your dentist if you notice any problems with your sense of taste. Smoking. Tobacco smoking is the most concentrated form of pollution that most people are exposed to. Smokers often report an improved sense of taste after quitting. When To See the Doctor Be sure to see your doctor if you have had a taste problem for a while or if you notice that your problem with taste is associated with other symptoms. Let your doctor know if you are taking any medications that might affect your sense of taste. You may be able to change or adjust your medicine to one that will not cause a problem with taste. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects.

What are the symptoms of Problems with Taste ?

Symptoms Vary With Disorders There are several types of taste disorders depending on how the sense of taste is affected. People who have taste disorders usually lose their ability to taste or can no longer perceive taste in the same way. True taste disorders are rare. Most changes in the perception of food flavor result from the loss of smell. Phantom Taste Perception. The most common taste complaint is "phantom taste perception" -- tasting something when nothing is in the mouth. Hypogeusia. Some people have hypogeusia, or the reduced ability to taste sweet, sour, bitter, salty, and savory, or umami. This disorder is usually temporary. Dysgeusia. Dysgeusia is a condition in which a foul, salty, rancid, or metallic taste sensation will persist in the mouth. Dysgeusia is sometimes accompanied by burning mouth syndrome, a condition in which a person experiences a painful burning sensation in the mouth. Although it can affect anyone, burning mouth syndrome is most common in middle-aged and older women. Ageusia. Other people can't detect taste at all, which is called ageusia. This type of taste disorder can be caused by head trauma; some surgical procedures, such as middle ear surgery or extraction of the third molar; radiation therapy; and viral infections. Why a Diagnosis Is Important If you think you have a taste disorder, see your doctor. Loss of the sense of taste can lead to depression and a reduced desire to eat. Loss of appetite can lead to loss of weight, poor nutrition and weakened immunity. In some cases, loss of taste can accompany or signal conditions such as diabetes. Sometimes, a problem with taste can be a sign of a disease of the nervous system, such multiple sclerosis, Alzheimer's disease, or Parkinsons disease. Do You Have a Taste Disorder? If you think you have a taste disorder, try to identify and record the circumstances surrounding it. Ask yourself the following questions: - When did I first become aware of it? - What changes in my taste do I notice? - Do all foods and drinks taste the same? - Have there been any changes in my sense of smell? - Does the change in taste affect my ability to eat normally? - What medications do I take? What are the names of the medications? How much do I take? What is the health condition for which I take them? - Have I recently had a cold or the flu? When did I first become aware of it? What changes in my taste do I notice? Do all foods and drinks taste the same? Have there been any changes in my sense of smell? Does the change in taste affect my ability to eat normally? What medications do I take? What are the names of the medications? How much do I take? What is the health condition for which I take them? Have I recently had a cold or the flu? Talking With Your Doctor Bring this information with you when you visit the doctor. He or she may refer you to an otolaryngologist, a specialist in diseases of the ear, nose, and throat. An accurate assessment of your taste loss will include, among other things - a physical examination of your ears, nose, and throat - a dental examination and assessment of oral hygiene - a review of your health history - a taste test supervised by a health care professional. a physical examination of your ears, nose, and throat a dental examination and assessment of oral hygiene a review of your health history a taste test supervised by a health care professional. Tests for Taste Disorders Some tests are designed to measure the lowest concentration of a substance that a person can detect or recognize. Your doctor may ask you to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. Scientists have developed taste tests in which the patient responds to different concentrations of a substance. This may involve a simple "sip, spit, and rinse" test or the application of a substance directly to your tongue using an eye dropper. By using these tests, your doctor can determine if you have a true taste disorder and what type it is. If your doctor suspects that nerves in your mouth or head may be affected, he or she may order an X-ray, usually a CAT scan, to look further into the head and neck area. Once the cause of a taste disorder is found, your doctor may be able to treat it. Many types of taste disorders are reversible, but if not, counseling and self-help techniques may help you cope.

What are the treatments for Problems with Taste ?

Relief Is Possible Although there is no treatment for any gradual loss of taste that occurs with aging, relief from taste disorders is possible for many older people. Depending on the cause of your problem with taste, your doctor may be able to treat it or suggest ways to cope with it. Scientists are studying how loss of taste occurs so that treatments can be developed. Some patients regain their sense of taste when the condition or illness that is causing the loss of taste is over. For example, a middle ear infection often affects taste temporarily. Often, correcting the general medical problem can restore the sense of taste. Check Your Medications Often, a certain medication is the cause of a taste disorder, and stopping or changing the medicine may help eliminate the problem. If you take medications, ask your doctor if they can affect your sense of taste. If so, ask if you can take other medications or safely reduce the dose. Do not stop taking your medications unless directed by your doctor. Your doctor will work with you to get the medicines you need while trying to reduce unwanted side effects. If Your Diet Is Affected Because your sense of taste may gradually decline, you may not even notice the change. But your diet may change, and not for the better. You may lose interest in food and eat less, but you may choose foods that are high in fat and sugars. Or, you may eat more than you should, hoping to get more flavor from every bite. If you lose some or all of your sense of taste, there are things you can do to make your food taste better: - Prepare foods with a variety of colors and textures - Use aromatic herbs and hot spices to add more flavor; however avoid adding more sugar or salt to food - If your diet permits, use small amounts of cheese, bacon bits, or butter on vegetables, as well as olive oil or toasted nuts - Avoid combination dishes, such as casseroles, that can hide individual flavors and dilute taste. Prepare foods with a variety of colors and textures Use aromatic herbs and hot spices to add more flavor; however avoid adding more sugar or salt to food If your diet permits, use small amounts of cheese, bacon bits, or butter on vegetables, as well as olive oil or toasted nuts Avoid combination dishes, such as casseroles, that can hide individual flavors and dilute taste. If Your Sense of Taste Does Not Return If you cannot regain your sense of taste, there are things you can do to ensure your safety. Take extra care to avoid food that may have spoiled. If you live with other people, ask them to smell and taste food to make sure it is fresh. People who live alone should discard food if there is a chance it is spoiled. For those who wish to have additional help, there may be support groups in your area. These are often associated with smell and taste clinics in medical school hospitals. Some online bulletin boards also allow people with smell and taste disorders to share their experiences. Not all people with taste disorders will regain their sense of taste, but most can learn to live with it.

what research (or clinical trials) is being done for Problems with Taste ?

The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent the effects of aging on taste and smell - develop new diagnostic tests - understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses - improve treatment methods and rehabilitation strategies. prevent the effects of aging on taste and smell develop new diagnostic tests understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses improve treatment methods and rehabilitation strategies. Studies on Aging and Taste A recent NIDCD-funded study has shown that small variations in our genetic code can raise or lower our sensitivity to sweet tastes, which might influence a persons desire for sweets. Scientists have also made progress in understanding how our sense of taste changes as we age. Older adults often decide what to eat based on how much they like or dislike certain tastes. Scientists are looking at how and why this happens in order to develop more effective ways to help older people cope better with taste problems. Studies on Taste Receptors Some of the most recent chemosensory research focuses on identifying the key receptors expressed by our taste cells and understanding how those receptors send signals to the brain. Researchers are also working to develop a better understanding of how sweet and bitter substances attach to their targeted receptors. This research holds promise for the development of sugar or salt substitutes that could help combat obesity or hypertension, as well as the development of bitter blockers that could make life-saving medicines more acceptable to children. Taste cellsas well as sensory cells that help us smellare the only sensory cells in the human body that are regularly replaced throughout life. Researchers are exploring how and why this happens so that they might find ways to replace other damaged sensory cells. Gut and Sweet Receptors Scientists are gaining a better understanding of why the same receptor that helps our tongue detect sweet taste can also be found in the human gut. Recent research has shown that the sweet receptor helps the intestine to sense and absorb sugar and turn up the production of blood sugar-regulation hormones, including the hormone that regulates insulin release. Further research may help scientists develop drugs targeting the gut taste receptors to treat obesity and diabetes. Effects of Medications on Taste Scientists are also working to find out why some medications and medical procedures can have a harmful effect on our senses of taste and smell. They hope to develop treatments to help restore the sense of taste to people who have lost it.

What is (are) Problems with Taste ?

Taste is the ability to detect different sensations in the mouth, such as sweet or salty. It is part of your body's chemical sensing system. Taste combines with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor.

How many people are affected by Problems with Taste ?

Roughly 200,000 people each year visit a doctor for a chemosensory problem such as a taste disorder. Many more taste disorders go unreported.

What causes Problems with Taste ?

The most common causes of taste disorders are medications, infections, head trauma, and dental problems. Most people who have a problem with taste are taking certain medications or they have had a head or neck injury. Gum disease, dry mouth, and dentures can contribute to taste problems, too. Other causes are radiation therapy for head and neck cancers, smoking, and some surgeries.

How to prevent Problems with Taste ?

Problems with taste that occur with aging cannot be prevented. However you may be able to protect yourself against other causes of taste loss with these steps. - Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. - Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. - Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov

What causes Problems with Taste ?

Yes. Certain medicines can cause a change in our ability to taste. The medicines that most frequently do this are certain antibiotics and some antihistamines, although other medications can affect our sense of taste as well. If your medicine is causing a problem with your sense of taste, your doctor may be able to adjust or change your medicine. If not, he or she may suggest ways to manage your problem. Do not stop taking your medications unless directed by your doctor. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects.

How to diagnose Problems with Taste ?

Doctors can diagnose a taste disorder by measuring the lowest concentration of a substance that a person can detect. The doctor may also ask a patient to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. Scientists have developed taste tests in which a person responds to different concentrations of a substance. This may involve a simple "sip, spit, and rinse" test, or the application of a substance directly to the tongue with an eye dropper. By using these tests, your doctor can determine if you have a true taste disorder and what type it is.

What are the treatments for Problems with Taste ?

Depending on the cause of your taste disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the problem, your doctor may be able to adjust or change your medicine. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Some patients with respiratory infections regain their sense of taste when the illness is over. Often, correcting a general medical problem can restore the sense of taste. Occasionally, the sense of taste returns to normal on its own without any treatment.

What is (are) Problems with Taste ?

You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of my taste problem? - What changes in my sense of taste did I notice? - Do all foods and drinks taste the same? - Have there been any changes in my sense of smell? - Does the change in taste affect my ability to eat normally? - What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine? - Have I recently had a cold or the flu? When did I first become aware of my taste problem? What changes in my sense of taste did I notice? Do all foods and drinks taste the same? Have there been any changes in my sense of smell? Does the change in taste affect my ability to eat normally? What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine? Have I recently had a cold or the flu?

what research (or clinical trials) is being done for Problems with Taste ?

The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent the effects of aging on taste and smell - develop new diagnostic tests - understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses - improve treatment methods and rehabilitation strategies. prevent the effects of aging on taste and smell develop new diagnostic tests understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses improve treatment methods and rehabilitation strategies.

What is (are) Kidney Disease ?

What the Kidneys Do You have two kidneys. They are bean-shaped and about the size of a fist. They are located in the middle of your back, on the left and right of your spine, just below your rib cage. The kidneys filter your blood, removing wastes and extra water to make urine. They also help control blood pressure and make hormones that your body needs to stay healthy. When the kidneys are damaged, wastes can build up in the body. Kidney Function and Aging Kidney function may be reduced with aging. As the kidneys age, the number of filtering units in the kidney may decrease, the overall amount of kidney tissue may decrease, and the blood vessels that supply the kidney may harden, causing the kidneys to filter blood more slowly. If your kidneys begin to filter less well as you age, you may be more likely to have complications from certain medicines. There may be an unsafe buildup of medicines that are removed from your blood by your kidneys. Also, your kidneys may be more sensitive to certain medicines. For example, nonsteroidal anti-inflammatory drugs (NSAIDs) and some antibiotics may harm your kidneys in some situations. The next time you pick up a prescription or buy an over-the-counter medicine or supplement, ask your pharmacist how the product may affect your kidneys and interact with your other medicines. (Watch the video to learn more about what the kidneys do. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Learn more about how the kidneys work. How Kidney Disease Occurs Kidney disease means the kidneys are damaged and can no longer remove wastes and extra water from the blood as they should. Kidney disease is most often caused by diabetes or high blood pressure. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. Many more are at risk. The main risk factors for developing kidney disease are - diabetes - high blood pressure - cardiovascular (heart and blood vessel) disease - a family history of kidney failure. diabetes high blood pressure cardiovascular (heart and blood vessel) disease a family history of kidney failure. Each kidney contains about one million tiny filtering units made up of blood vessels. These filters are called glomeruli. Diabetes and high blood pressure damage these blood vessels, so the kidneys are not able to filter the blood as well as they used to. Usually this damage happens slowly, over many years. This is called chronic kidney disease. As more and more filtering units are damaged, the kidneys eventually are unable to maintain health. Early kidney disease usually has no symptoms, which means you will not feel different. Blood and urine tests are the only way to check for kidney damage or measure kidney function. If you have diabetes, high blood pressure, heart disease, or a family history of kidney failure, you should be tested for kidney disease. Kidney Failure Kidney disease can get worse over time, and may lead to kidney failure. Kidney failure means very advanced kidney damage with less than 15% normal function. End-stage renal disease (ESRD) is kidney failure treated by dialysis or kidney transplant. If the kidneys fail, treatment options such as dialysis or a kidney transplant can help replace kidney function. Some patients choose not to treat kidney failure with dialysis or a transplant. If your kidneys fail, talk with your health care provider about choosing a treatment that is right for you. (Watch the video to learn more about how kidney disease progresses. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)

How to prevent Kidney Disease ?

Risk Factors Diabetes and high blood pressure are the two leading causes of kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. Other risk factors for kidney disease include: - cardiovascular (heart) disease - family history -- if you have a mother, father, sister, or brother who has had kidney failure, then you are at increased risk. cardiovascular (heart) disease family history -- if you have a mother, father, sister, or brother who has had kidney failure, then you are at increased risk. Additionally, African Americans, Hispanics, and Native Americans are at high risk for developing kidney failure. This is in part due to high rates of diabetes and high blood pressure in these communities. If you have ANY of these risk factors, talk to your health care provider about getting tested for kidney disease. If you have kidney disease, you may not feel any different. It is very important to get tested if you are at risk. (Watch the video to learn more about reducing your risk for kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Prevention If you are at risk for kidney disease, the most important steps you can take to keep your kidneys healthy are to - get your blood and urine checked for kidney disease. - manage your diabetes, high blood pressure, and heart disease. get your blood and urine checked for kidney disease. manage your diabetes, high blood pressure, and heart disease. Manage your diabetes and high blood pressure, and keep your kidneys healthy by - eating healthy foods: fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods - cutting back on salt - limiting your alcohol intake - being more physically active - losing weight if you are overweight - taking your medicines the way your provider tells you to - keeping your cholesterol levels in the target range - taking steps to quit, if you smoke - seeing your doctor regularly. eating healthy foods: fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods cutting back on salt limiting your alcohol intake being more physically active losing weight if you are overweight taking your medicines the way your provider tells you to keeping your cholesterol levels in the target range taking steps to quit, if you smoke seeing your doctor regularly. By following these steps and keeping risk factors under control -- especially your blood pressure -- you may be able to delay or even prevent kidney failure. Talk to your health care provider to find out the steps that are right for you. Learn about preventing high blood pressure. Learn about preventing type 2 diabetes.

What are the symptoms of Kidney Disease ?

Kidney Disease Kidney disease is often called a "silent" disease, because most people have no symptoms with early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! If you are at risk for kidney disease, talk to your health care provider about getting tested. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Symptoms of Kidney Failure Kidney failure means that damaged kidneys are filtering less than 15% of the amount of blood filtered by healthy kidneys. If kidney disease progresses to kidney failure, a number of symptoms may occur. Some people experience fatigue, some lose their appetite, and some have leg cramps. These problems are caused by waste products that build up in the blood, a condition known as uremia. Healthy kidneys remove waste products from the blood. When the kidneys stop working, uremia occurs. The kidneys also make hormones and balance the minerals in the blood. When the kidneys stop working, most people develop conditions that affect the blood, bones, nerves, and skin. These problems may include itching, sleep problems, restless legs, weak bones, joint problems, and depression. How Kidney Disease Is Diagnosed Blood and urine tests are the only way to check for kidney damage or measure kidney function. It is important for you to get checked for kidney disease if you have the key risk factors, which are - diabetes - high blood pressure - heart disease - a family history of kidney failure. diabetes high blood pressure heart disease a family history of kidney failure. If you are at risk, ask about your kidneys at your next medical appointment. The sooner you know you have kidney disease, the sooner you can get treatment to help delay or prevent kidney failure. If you have diabetes, high blood pressure, heart disease, or a family history of kidney failure, you should get a blood and urine test to check your kidneys. Talk to your provider about how often you should be tested. (Watch the video to learn more about tests for kidney disease.) Blood Test The blood test checks your GFR. GFR stands for glomerular (glow-MAIR-you-lure) filtration rate. GFR is a measure of how much blood your kidneys filter each minute. This shows how well your kidneys are working. GFR is reported as a number. - A GFR of 60 or higher is in the normal range. - A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. - A GFR of 15 or lower may mean kidney failure. A GFR of 60 or higher is in the normal range. A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. A GFR of 15 or lower may mean kidney failure. You can't raise your GFR, but you can try to keep it from going lower. Ask your healthcare provider what you can do to keep your kidneys healthy. Learn more about the GFR test. Urine Test The urine test looks for albumin (al-BYOO-min), a type of protein, in your urine. A healthy kidney does not let albumin pass into the urine. A damaged kidney lets some albumin pass into the urine. This test has several different names. You could be told that you are being screened for "proteinuria" or "albuminuria" or "microalbuminuria." Or you could be told that your "urine albumin-to-creatinine ratio" (UACR) is being measured. If you have albumin or protein in your urine, it could mean you have kidney disease. - A urine albumin result below 30 is normal. - A urine albumin result above 30 is not normal and may mean kidney disease. A urine albumin result below 30 is normal. A urine albumin result above 30 is not normal and may mean kidney disease. Learn more about the urine albumin test. Your healthcare provider might do additional tests to be sure.

What are the treatments for Kidney Disease ?

Different Treatments for Different Stages There are several types of treatments related to kidney disease. Some are used in earlier stages of kidney disease to protect your kidneys. These medications and lifestyle changes help you maintain kidney function and delay kidney failure. Other treatments, such as dialysis and transplantation, are used to treat kidney failure. These methods help replace kidney function if your own kidneys have stopped working. Treatments for Early Kidney Disease Treatments for early kidney disease include both diet and lifestyle changes and medications. - Making heart-healthy food choices and exercising regularly to maintain a healthy weight can help prevent the diseases that cause further kidney damage. - If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. - Choose and prepare foods with less salt and sodium. Aim for less than 2,300 milligrams of sodium each day. - Eat the right amount of protein. Although it is important to eat enough protein to stay healthy, excess protein makes your kidneys work harder. Eating less protein may help delay progression to kidney failure. Talk to your dietitian or other health care provider about what is the right amount of protein for you. - If you have been diagnosed with kidney disease, ask your doctor about seeing a dietitian. A dietitian can teach you how to choose foods that are easier on your kidneys. You will also learn about the nutrients that matter for kidney disease. You can find a dietitian near you through the Academy of Nutrition and Dietetics directory. - If you smoke, take steps to quit. Cigarette smoking can make kidney damage worse. Making heart-healthy food choices and exercising regularly to maintain a healthy weight can help prevent the diseases that cause further kidney damage. If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. Choose and prepare foods with less salt and sodium. Aim for less than 2,300 milligrams of sodium each day. Eat the right amount of protein. Although it is important to eat enough protein to stay healthy, excess protein makes your kidneys work harder. Eating less protein may help delay progression to kidney failure. Talk to your dietitian or other health care provider about what is the right amount of protein for you. If you have been diagnosed with kidney disease, ask your doctor about seeing a dietitian. A dietitian can teach you how to choose foods that are easier on your kidneys. You will also learn about the nutrients that matter for kidney disease. You can find a dietitian near you through the Academy of Nutrition and Dietetics directory. If you smoke, take steps to quit. Cigarette smoking can make kidney damage worse. Medicines Medicines can also help protect the kidneys. People with kidney disease often take medicines to lower blood pressure, control blood glucose, and lower blood cholesterol. Two types of blood pressure medicines -- angiotensin-converting enzyme (ACE) inhibitors, and angiotensin receptor blockers (ARBs) -- may protect the kidneys and delay kidney failure. These medicines may even protect kidney function in people who don't have high blood pressure. The most important step you can take to treat kidney disease is to control your blood pressure. Many people need two or more medicines to keep their blood pressure at a healthy level. For most people, the blood pressure target is less than 140/90 mm Hg. An ACE inhibitor, ARB, or diuretic (water pill) may help control blood pressure. Your healthcare provider will work with you to choose the right medicines for you. (Watch the video to learn more about medications and kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Be Safe With Your Medicines Some older adults with kidney disease may take medicines for other diseases as well. If you have kidney disease, you need to be careful about all the medicines you take. Your kidneys do not filter as well as they did in the past. This can cause an unsafe buildup of medicines in your blood. Some medicines can also harm your kidneys. As kidney disease progresses, your doctor may need to change the dose (or amount) of all medicines that affect the kidney or are removed by the kidney. You may need to take some medicines in smaller amounts or less often. You may also need to stop taking a medicine or switch to a different one. Effects of NSAID Drugs Non-steroidal anti-inflammatory drugs (NSAIDs) can harm your kidneys, especially if you have kidney disease, diabetes, and high blood pressure. NSAIDs include common over-the-counter and prescription medicines for headaches, pain, fever, or colds. Ibuprofen and naproxen are NSAIDs, but NSAIDs are sold under many different brand names. If you have kidney disease, do not use NSAIDs. Ask your pharmacist or health care provider if the medicines you take are safe to use. You also can look for NSAIDs on Drug Facts labels.

What are the treatments for Kidney Disease ?

Kidney disease can get worse over time, and may lead to kidney failure. Kidney failure means advanced kidney damage with less than 15% normal function. Most people with kidney failure have symptoms from the build up of waste products and extra water in their body. End-stage renal disease (ESRD) is kidney failure treated by dialysis or kidney transplant. If kidney disease progresses to kidney failure, the goal of treatment changes. Since the kidneys no longer work well enough to maintain health, it is necessary to choose a treatment in order to maintain health. There are two main options for this: dialysis and transplantation. Some patients choose not to treat kidney failure with dialysis or a transplant. Instead, they receive supportive care to treat their symptoms. Before you and your health care team decide on a treatment plan, it is important that you understand how each treatment option is likely to affect how long you will live or how good you will feel. If your kidney disease is progressing, talk with your health care provider about choosing a treatment that is right for you. (Watch the video to learn more about dialysis decisions. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Two Kinds of Dialysis Dialysis is a treatment that takes waste products and extra fluid out of your body. In hemodialysis, your blood passes through a filter outside of your body and the clean blood is returned to your body. In hemodialysis, blood is run through a filter outside of your body and the clean blood is returned to the body. Hemodialysis is usually done at a dialysis center three times a week, but it can also be done at home. Each session usually lasts between three and four hours. Peritoneal dialysis is another way to remove wastes from your blood. This kind of dialysis uses the lining of your abdominal cavity (the space in your body that holds organs like the stomach, intestines, and liver) to filter your blood. It works by putting a special fluid into your abdomen that absorbs waste products in your blood as it passes through small blood vessels in this lining. This fluid with the waste products is then drained away. A key benefit of peritoneal dialysis is that it can be done at home, while you sleep. Hemodialysis and peritoneal dialysis do not cure kidney failure. They are treatments that help replace the function of the kidneys and may help you feel better and live longer. But, for some people who have many health problems and are age 75 or older, studies show that treatment with dialysis may not help. If You Are on Dialysis Although patients with kidney failure are now living longer than ever, over the years, kidney disease can cause problems such as - depression - heart disease - bone disease - arthritis - nerve damage - malnutrition. depression heart disease bone disease arthritis nerve damage malnutrition. To stay as healthy as possible for as long as possible while on dialysis, - follow your dietitian's advice, - take your medicines, and - follow healthy lifestyle and diet habits to keep a healthy weight and control blood pressure, blood sugar, and cholesterol. follow your dietitian's advice, take your medicines, and follow healthy lifestyle and diet habits to keep a healthy weight and control blood pressure, blood sugar, and cholesterol. Dialysis can be a special challenge for older adults, especially those who have other diseases or conditions. For example, for hemodialysis, a person must be able to leave home, travel to the dialysis facility, and sit for 4 hours during treatment. Peritoneal dialysis can be done at home, but someone needs to help. Often, older adults need help with some or all of these activities. They and their families need to think about these issues as they choose treatment options and living facilities. Learn more about dialysis. Eating, Diet, and Nutrition on Dialysis For people who are on dialysis or approaching total kidney failure, adequate nutrition is important for maintaining energy, strength, healthy sleep patterns, bone health, heart health, and good mental health. The diet should be based on the type of treatment the person is getting. - People on hemodialysis must watch how much fluid they drink and avoid eating foods with too much sodium, potassium, and phosphorus. - In contrast, people on peritoneal dialysisa type of dialysis that uses the lining of the abdomen, or belly, to filter the blood inside the bodymay be able to eat more potassium-rich foods because peritoneal dialysis removes potassium from the body more efficiently than hemodialysis. - Both hemodialysis and peritoneal dialysis can remove proteins from the body, so anyone on either form of dialysis should eat protein-rich foods such as meat, fish, and eggs. People on hemodialysis must watch how much fluid they drink and avoid eating foods with too much sodium, potassium, and phosphorus. In contrast, people on peritoneal dialysisa type of dialysis that uses the lining of the abdomen, or belly, to filter the blood inside the bodymay be able to eat more potassium-rich foods because peritoneal dialysis removes potassium from the body more efficiently than hemodialysis. Both hemodialysis and peritoneal dialysis can remove proteins from the body, so anyone on either form of dialysis should eat protein-rich foods such as meat, fish, and eggs. All dialysis centers have a renal dietitian, who helps people with kidney failure make healthy food choices. People who are on dialysis should talk with their clinics renal dietitian. The renal dietitian can help make a meal plan that will help their treatment work well. Kidney Transplantation Some people with kidney failure -- including older adults -- may be able to receive a kidney transplant. This involves having a healthy kidney from another person surgically placed into your body. The new, donated kidney does the work the failed kidneys used to do. The donated kidney can come from someone you dont know who has recently died, or from a living person -- usually a family member. But you might also be able to receive a kidney from an unrelated donor, including your spouse or a friend. Due to the shortage of kidneys, patients on the waiting list for a deceased donor kidney may wait many years. (Watch the video to learn more about kidney transplantation.) Kidney transplantation is a treatment for kidney failure -- not a cure. You will need to see your healthcare provider regularly. And you will need to take medicines for as long as you have your transplant. These medicines suppress your immune system so it doesn't reject the transplanted kidney. Eating, Diet, and Nutrition After a Transplant After a transplant, it is still important to make healthy food choices. It is still important to eat foods with less salt. This may help you keep a healthy blood pressure. You should also choose foods that are healthy for your heart, like fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods. If you were on dialysis before the transplant, you may find that your diet after transplant is much easier to follow. You can drink more fluids and eat many of the fruits and vegetables you had to eat less of while on dialysis. You may even need to gain a little weight, but be careful not to gain weight too quickly. All transplant clinics have a renal dietitian, who helps people with kidney failure make healthy food choices. People who have had a transplant should talk with their clinics renal dietitian. The renal dietitian can help make a meal plan that will help keep the new kidney healthy. Learn more about kidney transplantation. Choosing Not to Treat With Dialysis or Transplant You may choose not to treat kidney failure with dialysis or a transplant. Instead, you may choose to focus on treating its complications. If you choose this path, you will still get care from your health care team. Your care may include - medicines to protect remaining kidney function for as long as possible - medicines to treat symptoms of kidney failure (such as nausea, anemia, and poor appetite) - advice on diet and lifestyle choices, and - care to ease symptoms, provide relief from physical and emotional pain, and enhance quality of life. medicines to protect remaining kidney function for as long as possible medicines to treat symptoms of kidney failure (such as nausea, anemia, and poor appetite) advice on diet and lifestyle choices, and care to ease symptoms, provide relief from physical and emotional pain, and enhance quality of life. You have the right to choose not to start dialysis or undergo transplant surgery. You may choose not to treat with dialysis or transplant if you feel that the burdens would outweigh the benefits. Or, you may make this choice if you feel these treatments would lower your quality of life. Only you know what it is like for you to live with kidney failure. Treatment with no dialysis or transplant may be a choice for you if - you and your doctor feel dialysis or transplant will not improve your health. For some people who have many health problems and are age 75 or older, studies show that treatment with dialysis may not help. - you feel youve accomplished what you wanted in life. - family and friends support your decision. you and your doctor feel dialysis or transplant will not improve your health. For some people who have many health problems and are age 75 or older, studies show that treatment with dialysis may not help. you feel youve accomplished what you wanted in life. family and friends support your decision. Choosing the Right Treatment Not all treatments are right for all people. Talk to your doctor and other health professionals -- including nurses, dietitians, and diabetes educators -- to figure out the best treatment plan for you. The right choice for you depends upon your medical condition, lifestyle, and personal likes and dislikes. Each treatment option may have a different effect on - how long you live - your overall health - what and how much you can do - how well you can get around - how you feel emotionally - how well you can think, learn, and remember - your sex life. how long you live your overall health what and how much you can do how well you can get around how you feel emotionally how well you can think, learn, and remember your sex life.

what research (or clinical trials) is being done for Kidney Disease ?

Many areas of Research Researchers are working at every stage of kidney disease to improve diagnosis and treatment, including - trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease - trying to find more effective medications to treat kidney disease and its risk factors, and - improving dialysis and the results of kidney transplantation. trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease trying to find more effective medications to treat kidney disease and its risk factors, and improving dialysis and the results of kidney transplantation. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Interaction With Other Diseases Another focus is on the interaction between kidney disease, diabetes, and cardiovascular (heart) disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention. Disease Progression NIDDK is sponsoring a major study -- the Chronic Renal Insufficiency Cohort (CRIC) study -- to learn more about how kidney disease progresses. CRIC is following 6,000 adults with mild to moderate kidney disease. About half have diabetes. It is believed that some CRIC study participants' kidney function will decline more rapidly than others', and that some will develop cardiovascular disease while others won't. The goal of the study is to identify the factors linked to rapid decline of kidney function and the development of cardiovascular disease. The data and specimens collected from study participants will be available to other researchers who are studying kidney disease and cardiovascular disease. The CRIC study will allow future investigation into the role of genetic, environmental, behavioral, nutritional, and other factors in kidney disease. Learn more about the CRIC Study. Improving Transplants In the area of transplantation, researchers are working to develop new drugs that help the body accept donated organs. The goal is to help transplanted kidneys survive longer and work better. NIDDK scientists are also developing new techniques to improve the body's tolerance for foreign tissue even before the donated kidney is transplanted. This could help reduce or eliminate the need for drugs that suppress the immune system, which could reduce transplantation costs and complications. In the future, scientists may even develop an artificial kidney for implantation.

What is (are) Kidney Disease ?

Kidney disease -- also known as chronic kidney disease (CKD) -- occurs when kidneys can no longer remove wastes and extra water from the blood or perform other functions as they should. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. Many more are at risk. (Watch the video to learn more about kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)

What causes Kidney Disease ?

Kidney disease is most often caused by diabetes or high blood pressure. Each kidney contains about one million tiny filters made up of blood vessels. These filters are called glomeruli. Diabetes and high blood pressure damage these blood vessels, so the kidneys are not able to filter the blood as well as they used to. Usually this damage happens slowly, over many years. As more and more filters are damaged, the kidneys eventually stop working.

Who is at risk for Kidney Disease? ?

Diabetes and high blood pressure are the two leading risk factors for kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. There are several other risk factors for kidney disease. Cardiovascular (heart) disease is a risk factor. So is family history: if you have a mother, father, sister, or brother who has had kidney disease, then you are at increased risk. African Americans, Hispanics, and Native Americans tend to have a greater risk for kidney failure. This is mostly due to higher rates of diabetes and high blood pressure in these communities, although there may be other reasons. (Watch the video to learn more about the connection between heart disease and kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)

What are the symptoms of Kidney Disease ?

Kidney disease is often called a "silent" disease, because most people have no symptoms in early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! Blood and urine tests are the only way to check for kidney damage or measure kidney function. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)

What is (are) Kidney Disease ?

When you visit your doctor, here are questions to ask about your kidneys. - What is my GFR? - What is my urine albumin result? - What is my blood pressure? - What is my blood glucose (for people with diabetes)? What is my GFR? What is my urine albumin result? What is my blood pressure? What is my blood glucose (for people with diabetes)?

What are the treatments for Kidney Disease ?

Treatments for early kidney disease include both diet and lifestyle changes and medications. Diet and lifestyle changes, such as eating heart healthy foods and exercising regularly to maintain a healthy weight, can help prevent the diseases that cause kidney damage. If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. (Watch the video to learn more about dialysis decisions. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)

What are the treatments for Kidney Disease ?

During your next health care visit, talk to your provider about your test results and how to manage your kidney disease. Below is a list of questions you may want to ask. Add any questions you think are missing, and mark those that are most important to you. Bring your list with you. About your tests - Did you check my kidney health with blood and urine tests? - What was my GFR? What does that mean? - Has my GFR changed since last time? - What is my urine albumin level? What does that mean? - Has my urine albumin changed since the last time it was checked? - Is my kidney disease getting worse? - Is my blood pressure where it needs to be? - Will I need dialysis? - When should I talk to my family about dialysis or a kidney transplant? Did you check my kidney health with blood and urine tests? What was my GFR? What does that mean? Has my GFR changed since last time? What is my urine albumin level? What does that mean? Has my urine albumin changed since the last time it was checked? Is my kidney disease getting worse? Is my blood pressure where it needs to be? Will I need dialysis? When should I talk to my family about dialysis or a kidney transplant? (Watch the video to learn more about dialysis decisions. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) About treatment and self-care - What can I do to keep my disease from getting worse? - Do any of my medicines or doses need to be changed? - Do I need to change what I eat? Am I eating the right amount of protein, salt (sodium), potassium, and phosphorus? - Will you refer me to a dietitian for diet counseling? - When will I need to see a nephrologist (kidney specialist)? - What do I need to do to protect my veins? What can I do to keep my disease from getting worse? Do any of my medicines or doses need to be changed? Do I need to change what I eat? Am I eating the right amount of protein, salt (sodium), potassium, and phosphorus? Will you refer me to a dietitian for diet counseling? When will I need to see a nephrologist (kidney specialist)? What do I need to do to protect my veins? (Watch the video to learn more about lifestyle and diet changes to make with kidney disease.) About complications - What other health problems may I face because of my kidney disease? - Should I be looking for any symptoms? If so, what are they? What other health problems may I face because of my kidney disease? Should I be looking for any symptoms? If so, what are they? If you're told that you need renal replacement therapy (dialysis or a transplant) - How do I decide which treatment is right for me? - How do I prepare for dialysis? - What is an AV fistula? - How soon do I begin preparing? - How can my family help me? How do I decide which treatment is right for me? How do I prepare for dialysis? What is an AV fistula? How soon do I begin preparing? How can my family help me?

What is (are) Kidney Disease ?

When your kidneys fail, they are no longer able to filter blood and remove waste from your body well enough to maintain health. Kidney failure causes harmful waste and excess fluid to build up in your body. Your blood pressure may rise, and your hands and feet may swell. Since the kidneys are not working well, the goal is to find treatments that can replace kidney function in order to maintain health. There are two main options for this: dialysis and transplantation.

What are the treatments for Kidney Disease ?

Dialysis is a treatment to filter wastes and water from your blood. There are two major forms of dialysis: hemodialysis and peritoneal dialysis. (Watch the video to learn more about dialysis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In hemodialysis, blood is run through a filter outside of your body and the clean blood is returned to the body. Hemodialysis is usually done at a dialysis center three times a week, but it can also be done at home. Each session usually lasts between three and four hours. Peritoneal dialysis is another way to remove wastes from your blood. This kind of dialysis uses the lining of your abdominal cavity (the space in your body that holds organs like the stomach, intestines, and liver) to filter your blood. It works by putting a special fluid into your abdomen that absorbs waste products in your blood as it passes through small blood vessels in this lining. This fluid is then drained away. A key benefit of peritoneal dialysis is that it can be done at home, while you sleep. Get more information about dialysis.

What is (are) Kidney Disease ?

Instead of dialysis, some people with kidney failure -- including older adults -- may be able to receive a kidney transplant. This involves having a healthy kidney from another person surgically placed into your body. The new, donated kidney does the work that your two failed kidneys used to do. The donated kidney can come from an anonymous donor who has recently died, or from a living person -- usually a relative. But you might also be able to receive a kidney from an unrelated donor, including your spouse or a friend. (Watch the video to learn more about kidney transplantation. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Kidney transplantation is a treatment for kidney failure -- not a cure. You will need to see your healthcare provider regularly. And you will need to take medications for as long as you have your transplant to suppress your immune system so it doesn't reject the transplanted kidney.

what research (or clinical trials) is being done for Kidney Disease ?

There are many researchers who are working on kidney disease. They are looking for ways to improve diagnosis, make treatments more effective, and make dialysis and transplantation work better. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Another focus is on the interaction between diabetes, kidney disease, and cardiovascular disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention.

Who is at risk for Creating a Family Health History? ?

Diseases Can Have Various Causes Many things influence your overall health and likelihood of developing a disease. Sometimes, it's not clear what causes a disease. Many diseases are thought to be caused by a combination of genetic, lifestyle, and environmental factors. The importance of any particular factor varies from person to person. If you have a disease, does that mean your children and grandchildren will get it, too? Not necessarily. They may have a greater chance of developing the disease than someone without a similar family history. But they are not certain to get the disease. (Watch the video to learn more about why family health history is important. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Health Problems That May Run in Families Common health problems that can run in a family include: - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis asthma blood clots cancer depression diabetes heart disease high cholesterol high blood pressure pregnancy losses and birth defects stroke. Learn more about the importance of family history in some of these health problems at Diseases, Genetics and Family History. (Center for Disease Control and Prevention) Heritable Diseases Some diseases are clearly heritable. This means the disease comes from a mutation, or harmful change, in a gene inherited from one or both parents. Genes are small structures in your body's cells that determine how you look and tell your body how to work. Examples of heritable diseases are Huntington's disease, cystic fibrosis, and muscular dystrophy. Learn basic information about chromosomes. Learn basic information about DNA. Role of Lifestyle and Environment Genes are not the only things that cause disease. Lifestyle habits and environment also play a major part in developing disease. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. For common diseases like heart disease and cancer, habits like smoking or drinking too much alcohol may be more important in causing disease than genes. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. However, other environmental and genetic factors can also increase a persons risk. The best defense against skin cancer is to encourage sun-protective behaviors, regular skin examinations, and skin self-awareness in an effort to decrease high-risk behaviors and optimize early detection of problems. Learn more about the causes and risk factors for skin cancer. Clues to Your Disease Risk Creating a family health history helps you know about diseases and disease risks. It can also show the way a disease occurs in a family. For example, you may find that a family member had a certain disease at an earlier age than usual (10 to 20 years before most people get it). That can increase other family members' risk. Risk also goes up if a relative has a disease that usually does not affect a certain gender, for example, breast cancer in a man. Certain combinations of diseases within a family -- such as breast and ovarian cancer, or heart disease and diabetes -- also increase the chance of developing those diseases. Some Risk Factors Are Not Apparent Even if they appear healthy, people could be at risk for developing a serious disease that runs in the family. They could have risk factors that they cannot feel, such as high blood pressure. They might not even know the disease runs in their family because they've lost touch with family members with the disease or because other family members with the disease have kept the information private. Another possibility is that family members who might have developed the disease died young in accidents or by other means. They might also be adopted and not share genes with members of their adoptive family. Getting Professional Advice Family members who think they might be at risk for a disease based on their family health history can ask their health care professionals for advice. The professional may order a test to see if the person has the disease or a risk factor for the disease. For instance, a mammogram can detect possible breast cancer, and a colonoscopy can find colon cancer. Many diseases are more treatable if they are caught early. The first step toward better understanding of your family's health is to learn more about the health of close relatives such as parents, brothers and sisters, and children. Creating a family health history is one way to do that.

What is (are) Creating a Family Health History ?

A family health history is a written record of the diseases and health conditions within a family. It provides information about family members' medical histories, lifestyle habits, and early living environments.

What is (are) Creating a Family Health History ?

A heritable disease is caused by a mutation, or harmful change, in a gene inherited from a parent. Genes are small structures in your body's cells that determine how you look and tell your body how to work. Examples of heritable diseases are Huntington's disease, sickle cell anemia, and muscular dystrophy. Most diseases that run in the family are not strictly genetic. Learn basic information about chromosomes. Learn basic information about DNA.

What is (are) Creating a Family Health History ?

Common health problems that can run in a family include - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis asthma blood clots cancer depression diabetes heart disease high cholesterol high blood pressure pregnancy losses and birth defects stroke. Learn more about the importance of family history in some of these health problems at Diseases, Genetics and Family History. (Center for Disease Control and Prevention)

What causes Creating a Family Health History ?

Yes. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. However, other environmental and genetic factors can also increase a persons risk. The best defense against skin cancer is to encourage sun-protective behaviors, regular skin examinations, and skin self-awareness in an effort to decrease high-risk behaviors and optimize early detection of problems. Learn more about the causes and risk factors for skin cancer.

How to prevent Creating a Family Health History ?

People can't change the genes they inherit from their parents, but they can change other things to prevent diseases that run in the family. This is good news because many diseases result from a combination of a person's genes, lifestyle, and environment. Actions to reduce the risk of disease may involve lifestyle changes, such as eating healthier foods, exercising more, getting certain medical tests, and taking medicines that are more effective based on your specific genes. Ask your doctor or health care professional for advice.

What is (are) Creating a Family Health History ?

Here are important questions to ask your blood relatives. - What is your age or date of birth? - Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? - Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) - How old were you when you developed these illnesses? - Have you or your partner had any problems with pregnancies or childbirth? What is your age or date of birth? Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) How old were you when you developed these illnesses? Have you or your partner had any problems with pregnancies or childbirth? Other questions to ask your blood relatives include - What countries did our family come from? (Knowing this can help because some heritable diseases occur more often in certain population groups. Also, different diets and living environments can influence the risks of developing certain diseases.) - Has anyone in the family had birth defects, learning problems, or developmental disabilities, such as Down's syndrome? - What illnesses did our late parents or grandparents have? How old were they when they died? What caused their deaths? What countries did our family come from? (Knowing this can help because some heritable diseases occur more often in certain population groups. Also, different diets and living environments can influence the risks of developing certain diseases.) Has anyone in the family had birth defects, learning problems, or developmental disabilities, such as Down's syndrome? What illnesses did our late parents or grandparents have? How old were they when they died? What caused their deaths?

What is (are) Creating a Family Health History ?

Your relatives will probably want to know why you want information about their health. You can explain that knowing what diseases run in the family can help family members take steps to lower their risk. These steps might include certain lifestyle changes, medical tests, or choices of medicines to take. Offer to share your health history when it is done. Encourage relatives to create their own health histories. It's important to find the right time to talk about family health. Family get-togethers like holidays, vacations, and reunions might be good opportunities. Some people may prefer to share health information privately, in person or by telephone. You can also contact family members by mail or e-mail. Be sure to take notes or record the conversations with a tape recorder or video camera to help you remember.

What is (are) Creating a Family Health History ?

Talk to other family members. You can also obtain a death certificate from a state or county vital statistics office to confirm a late relative's cause of death. Funeral homes and online obituaries may also have this information.

What is (are) Creating a Family Health History ?

In a genetic test, a small sample of blood, saliva, or tissue is taken to examine a person's genes. Sometimes, genetic testing can detect diseases that may be preventable or treatable. This type of testing is available for thousands of conditions.

How to diagnose Creating a Family Health History ?

Genetic testing may be helpful whether the test identifies a mutation or not. Test results can - serve as a relief, eliminating some of the uncertainty about a health condition - help doctors make recommendations for treatment or monitoring - give people information to use in making decisions about their and their familys health - help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits - help people make informed choices about their future, such as whether to have a baby. serve as a relief, eliminating some of the uncertainty about a health condition help doctors make recommendations for treatment or monitoring give people information to use in making decisions about their and their familys health help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits help people make informed choices about their future, such as whether to have a baby.

How to diagnose Creating a Family Health History ?

Finding out your test results can affect you emotionally. Learning that you are someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results. Covering the costs of testing can also be a challenge. Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing. Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing. Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see The Genetic Information Nondiscrimination Act of 2008.

What are the symptoms of Macrocephaly mesodermal hamartoma spectrum ?

What are the signs and symptoms of Macrocephaly mesodermal hamartoma spectrum? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly mesodermal hamartoma spectrum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Arteriovenous malformation 90% Asymmetry of the thorax 90% Decreased body weight 90% Irregular hyperpigmentation 90% Kyphosis 90% Lower limb asymmetry 90% Lymphangioma 90% Macrodactyly of finger 90% Melanocytic nevus 90% Multiple lipomas 90% Scoliosis 90% Skeletal dysplasia 90% Skeletal muscle atrophy 90% Tall stature 90% Bronchogenic cyst 50% Cafe-au-lait spot 50% Dolichocephaly 50% Finger syndactyly 50% Hyperkeratosis 50% Hypertelorism 50% Lymphedema 50% Macrocephaly 50% Pulmonary embolism 50% Visceral angiomatosis 50% Abnormality of dental enamel 7.5% Abnormality of immune system physiology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the nail 7.5% Abnormality of the neck 7.5% Abnormality of the wrist 7.5% Anteverted nares 7.5% Arterial thrombosis 7.5% Atresia of the external auditory canal 7.5% Buphthalmos 7.5% Carious teeth 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conjunctival hamartoma 7.5% Craniosynostosis 7.5% Depressed nasal bridge 7.5% Exostoses 7.5% Generalized hyperpigmentation 7.5% Hallux valgus 7.5% Heterochromia iridis 7.5% Hypertrichosis 7.5% Limitation of joint mobility 7.5% Long face 7.5% Long penis 7.5% Low-set, posteriorly rotated ears 7.5% Macroorchidism 7.5% Meningioma 7.5% Myopathy 7.5% Myopia 7.5% Neoplasm of the lung 7.5% Neoplasm of the thymus 7.5% Ovarian neoplasm 7.5% Polycystic ovaries 7.5% Proptosis 7.5% Ptosis 7.5% Reduced number of teeth 7.5% Renal cyst 7.5% Retinal detachment 7.5% Retinal hamartoma 7.5% Seizures 7.5% Sirenomelia 7.5% Splenomegaly 7.5% Strabismus 7.5% Sudden cardiac death 7.5% Talipes 7.5% Testicular neoplasm 7.5% Thymus hyperplasia 7.5% Calvarial hyperostosis - Deep venous thrombosis - Depigmentation/hyperpigmentation of skin - Epibulbar dermoid - Facial hyperostosis - Hemangioma - Hemihypertrophy - Hypertrophy of skin of soles - Intellectual disability, moderate - Kyphoscoliosis - Lipoma - Mandibular hyperostosis - Nevus - Open mouth - Spinal canal stenosis - Spinal cord compression - Sporadic - Thin bony cortex - Venous malformation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Morquio syndrome B ?

What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Hypothalamic hamartomas ?

What are the signs and symptoms of Hypothalamic hamartomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypothalamic hamartomas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in infancy 50% Abnormality of cardiovascular system morphology - Anterior hypopituitarism - Autosomal recessive inheritance - Cleft palate - Depressed nasal bridge - Glioma - Hip dislocation - Hydrocephalus - Hypothalamic hamartoma - Macrocephaly - Median cleft lip - Microglossia - Micromelia - Micropenis - Occipital encephalocele - Postaxial hand polydactyly - Pulmonary hypoplasia - Renal dysplasia - Short nose - Short ribs - Skeletal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Charlie M syndrome ?

What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Brachydactyly syndrome 90% Finger syndactyly 90% Hypertelorism 90% Narrow mouth 90% Non-midline cleft lip 90% Reduced number of teeth 90% Split hand 90% Thin vermilion border 90% Abnormality of the metacarpal bones 50% Abnormality of the nose 50% Short philtrum 50% Macrotia 7.5% Triphalangeal thumb 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ?

What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Acanthosis nigricans - Autosomal dominant inheritance - Cranial hyperostosis - Ectodermal dysplasia - Hypodontia - Hypoplastic pilosebaceous units - Hypoplastic sweat glands - Natal tooth - Oligodontia - Relative macrocephaly - Short stature - Slow-growing scalp hair - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) LEOPARD syndrome ?

LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin; (E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)cular hypertelorism (widely spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss. There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Some cases are inherited from a parent in an autosomal dominant pattern. Other times, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation.

What are the symptoms of LEOPARD syndrome ?

What are the signs and symptoms of LEOPARD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Arrhythmia 90% Freckling 90% Hyperextensible skin 90% Hypertelorism 90% Intrauterine growth retardation 90% Melanocytic nevus 90% Myelodysplasia 90% Sensorineural hearing impairment 90% Abnormality of the mitral valve 50% Abnormality of the nose 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Decreased fertility 50% Hypertrophic cardiomyopathy 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Pectus excavatum 50% Ptosis 50% Sprengel anomaly 50% Webbed neck 50% Abnormal localization of kidney 7.5% Abnormality of calvarial morphology 7.5% Abnormality of the endocardium 7.5% Abnormality of the voice 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cognitive impairment 7.5% Coronary artery disease 7.5% Displacement of the external urethral meatus 7.5% Leukemia 7.5% Melanoma 7.5% Neuroblastoma 7.5% Scoliosis 7.5% Short stature 7.5% Spina bifida occulta 7.5% Triangular face 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Nocardiosis ?

Nocardiosis is a rare disorder that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually experience problems with their lungs (chest pain, coughing up blood, fevers), brain (headaches and seizures), and skin (skin infections, ulcers, and abscesses). The nocardia bacteria are found in soil around the world. People contract this disease by either inhaling contaminated dust or if soil containing nocardia bacteria get into an open wound. While anyone can contract this condition, people with a weakened immune system or chronic lung disease are at greatest risk of this condition.

What is (are) Methylmalonic acidemia with homocystinuria, type cblC ?

Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.

What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblC ?

What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblC? For both methylmalonic acidemia and methylmalonic acidemia with homocystinuria (MMA+HCU) cblC type signs and symptoms can vary from mild to life-threatening. There have been cases of MMA+HCU cblC type associated with mild symptoms and delayed age at onset (teen to adult years). In most cases however, signs and symptoms of MMA+HCU cblC type present in infancy. Even with early diagnosis and treatment, children with the condition tend to have symptoms affecting vision, growth, and learning. A recent study of 12 children with early onset MMA+HCU CblC type, diagnosed by newborn screening, and treated early with intramuscular hydroxocobalamin, oral betaine, folinic acid, l-carnitine, and dietary protein modification were reported to have developed the following symptoms: Mild to moderate low muscle tone (91%) Quick uncontrollable movements of the eye (nystagmus) with variable affect on vision (75%) Seizure (25%) Small head circumference (17%) Testing of communication, socialization, daily living skills, motor skills, and behavior showed mild to moderate delays in these areas for most children. Socialization was the least affected aspect of development. The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblC. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anorexia 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Infantile onset 50% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Feeding difficulties in infancy - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) C1q nephropathy ?

C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein can also be found deposited throughout the kidneys. It has been thought to be a subgroup of primary focal segmental glomerulosclerosis or to be a combination of several disease groups rather than a single disease. As a disease, it is very similar to minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). Criteria diagnosis includes C1q deposits on the kidney and no evidence of systemic lupus erythematosus. Both children and adult patients may have no symptoms, except for the presence of blood or protein in the urine, or present with swelling of the feet and legs, high blood pressure and kidney insufficiency. The treatment of C1q nephropathy is the same as for MCD or FSGS and includes corticosteroids and other immunosuppressive agents. Further research is needed to establish C1q nephropathy as a recognized distinct clinical entity.

What is (are) Multiple system atrophy ?

Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. The disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. The cause of multiple system atrophy is unknown, although environmental toxins, trauma, and genetic factors have been suggested. Most cases are sporadic, meaning they occur at random. A possible risk factor for the disease is variations in the synuclein gene SCNA, which provides instructions for the production of alpha-synuclein. A characteristic feature of MSA is the accumulation of the protein alpha-synuclein in glia, the cells that support nerve cells in the brain. These deposits of alpha-synuclein particularly occur in oligodendroglia, a type of cell that makes myelin (a coating on nerve cells that lets them conduct electrical signals rapidly). This protein also accumulates in Parkinsons disease, but in nerve cells. Because they both have a buildup of alpha-synuclein in cells, MSA and Parkinsons disease are sometimes referred to as synucleinopathies. There is no cure for this condition, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms.

What are the symptoms of Multiple system atrophy ?

What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 5% Adult onset - Anhidrosis - Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Babinski sign - Bradykinesia - Dysarthria - Dysautonomia - Gaze-evoked nystagmus - Hyperreflexia - Hypohidrosis - Impotence - Iris atrophy - Neurodegeneration - Olivopontocerebellar atrophy - Orthostatic hypotension - Parkinsonism - Phenotypic variability - Postural instability - Progressive - Ptosis - Rigidity - Skeletal muscle atrophy - Sporadic - Tremor - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Warfarin sensitivity ?

Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a "blood-thinning" medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to experience an overdose or other serious side effects from the medication. They may experience abnormal bleeding in the brain, gastrointestinal tract, or other tissues even at average doses. The metabolism of warfarin and the drug's effects in the body are complex traits that are determined by several genes as well as environmental and lifestyle factors such as gender, age, weight, diet, and other medications. Two specific genetic polymorphisms in the CYP2C9 and VKORC1 genes account for approximately 30-40% of variation in the response to warfarin and can be passed on to future generations in an autosomal dominant manner.

What are the symptoms of Warfarin sensitivity ?

What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone ?

What are the signs and symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, low-birth-weight type with unresponsiveness to growth hormone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment - Hypoglycemia - Intellectual disability - Intrauterine growth retardation - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Episodic ataxia with nystagmus ?

What are the signs and symptoms of Episodic ataxia with nystagmus? The Human Phenotype Ontology provides the following list of signs and symptoms for Episodic ataxia with nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cerebellar vermis atrophy - Diplopia - Downbeat nystagmus - Dysarthria - Dystonia - Episodic ataxia - Gaze-evoked nystagmus - Incomplete penetrance - Migraine - Muscle weakness - Myotonia - Paresthesia - Progressive cerebellar ataxia - Saccadic smooth pursuit - Tinnitus - Vertigo - Vestibular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Autoimmune autonomic ganglionopathy ?

Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.

What are the symptoms of Autoimmune autonomic ganglionopathy ?

What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently) Urinary retention Fixed and dilated pupils Dry mouth and eyes Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.

What causes Autoimmune autonomic ganglionopathy ?

What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness.

What are the treatments for Autoimmune autonomic ganglionopathy ?

How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.

What are the symptoms of Chromosome Xp22 deletion syndrome ?

What are the signs and symptoms of Chromosome Xp22 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome Xp22 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autistic behavior 100% Muscular hypotonia 5% Aggressive behavior - Attention deficit hyperactivity disorder - Impulsivity - Intellectual disability - Motor tics - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Aniridia ?

References National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/aniridia. Accessed 3/30/2011. Hingorani M, Moore A. Aniridia. GeneReviews. August 12, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed 3/30/2011.

What are the symptoms of Aniridia ?

What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Aplasia/Hypoplasia of the iris 90% Nystagmus 90% Visual impairment 90% Blepharophimosis 50% Cataract 50% Corneal erosion 50% Ectopia lentis 50% Glaucoma 50% Keratoconjunctivitis sicca 50% Opacification of the corneal stroma 50% Optic atrophy 50% Photophobia 50% Ptosis 50% Strabismus 50% Abnormality of the genital system 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the sense of smell 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Decreased corneal thickness 7.5% Microcornea 7.5% Ocular albinism 7.5% Optic nerve coloboma 7.5% Sensorineural hearing impairment 7.5% Umbilical hernia 7.5% Aniridia - Autosomal dominant inheritance - Hypoplasia of the fovea - Optic nerve hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the treatments for Aniridia ?

How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist. Additional treatment is adapted to each individual depending on the associated complications.

What is (are) Schwartz Jampel syndrome type 1 ?

Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). SJS1 can be divided into two subtypes differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. Individuals with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS1 is caused by mutations in the HSPG2 gene which makes a protein called perlecan. SJS1 is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for both type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as Botulinum toxin, and surgery. There is a more severe, distinct condition called Stuve-Wiedemann syndrome which is caused by mutations in the LIFR gene. At one time cases of Stuve-Wiedemann syndrome were referred to as Neonatal Schwartz Jampel syndrome type 2. Click on the link above to learn more about this syndrome.

What are the symptoms of Schwartz Jampel syndrome type 1 ?

What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem "fixed" in the same expression with puckered lips due to weakening and stiffening of the facial muscles. Additional facial features may include: Blepharophimosis (narrowing of the eye opening) Epicanthal folds (skin fold of the upper eyelid covering the inner corner of the eye) Blepharospasm (involuntary blinking or spasm of the eyelids) Hypertrichosis (excessive hair) of the eye lashes Micrognathia (small lower jaw) Individuals with SJS1 usually have short stature. Other skeletal and joint findings may include: Shortened neck Pectus carinatum (outward bowing of the chest) Kyphosis (curving of the spine that causes a bowing or rounding of the back) Coxa valga (hip deformity involving an increased neck-shaft angle of the femur) Joint contractures Osteoporosis Widening of the metaphysis (portion of the bone containing the growth plate) Delayed bone age Other less common symptoms include: a high pitched voice, bilateral carpel tunnel syndrome, and malignant hyperthermia. One study suggested that as many as 20% of individuals with SJS1 have an intellectual disability; however, most individuals with SJS1 have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwartz Jampel syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Cognitive impairment 90% EMG abnormality 90% Full cheeks 90% Gait disturbance 90% Genu valgum 90% Hypertonia 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Myotonia 90% Narrow mouth 90% Pes planus 90% Short stature 90% Skeletal dysplasia 90% Talipes 90% Trismus 90% Visual impairment 90% Abnormal vertebral ossification 50% Abnormality of the eyebrow 50% Abnormality of the pharynx 50% Blepharophimosis 50% Cataract 50% Hyperlordosis 50% Kyphosis 50% Malar flattening 50% Mask-like facies 50% Myopathy 50% Myopia 50% Overfolded helix 50% Pectus carinatum 50% Platyspondyly 50% Prominent nasal bridge 50% Ptosis 50% Reduced bone mineral density 50% Scoliosis 50% Short neck 50% Skeletal muscle hypertrophy 50% Spinal rigidity 50% Strabismus 50% Abnormality of immune system physiology 7.5% Abnormality of the ribs 7.5% Abnormality of the ureter 7.5% Abnormally straight spine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Apnea 7.5% Arrhythmia 7.5% Attention deficit hyperactivity disorder 7.5% Cleft palate 7.5% Decreased body weight 7.5% Delayed skeletal maturation 7.5% Distichiasis 7.5% Ectopia lentis 7.5% Elbow dislocation 7.5% Feeding difficulties in infancy 7.5% Hypertelorism 7.5% Hypertrichosis 7.5% Increased bone mineral density 7.5% Laryngomalacia 7.5% Long philtrum 7.5% Low anterior hairline 7.5% Malignant hyperthermia 7.5% Microcephaly 7.5% Microcornea 7.5% Muscle weakness 7.5% Myalgia 7.5% Nephrolithiasis 7.5% Neurological speech impairment 7.5% Odontogenic neoplasm 7.5% Pectus excavatum 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Protrusio acetabuli 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Sprengel anomaly 7.5% Testicular torsion 7.5% Umbilical hernia 7.5% Wormian bones 7.5% Abnormality of femoral epiphysis - Anterior bowing of long bones - Autosomal recessive inheritance - Congenital hip dislocation - Coronal cleft vertebrae - Coxa valga - Coxa vara - Decreased testicular size - Flat face - Flexion contracture of toe - Generalized hirsutism - High pitched voice - Hip contracture - Hyporeflexia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Long eyelashes in irregular rows - Low-set ears - Lumbar hyperlordosis - Metaphyseal widening - Osteoporosis - Pursed lips - Shoulder flexion contracture - Talipes equinovarus - Weak voice - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What causes Schwartz Jampel syndrome type 1 ?

What causes Schwartz Jampel syndrome type 1? Schwartz Jampel syndrome type 1 (SJS1) is caused by mutations in the HSPG2 gene. The HSPG2 gene codes for the protein perlecan, which is found in muscle and cartilage. Although the role of the perlecan protein is not fully understood, it is thought to play an essential role in many biological activities such as cell signaling and cellular structure. In SJS1, it is suspected that a disturbance in perlecan function leads to a deficiency of acetylcholinesterase, an enzyme involved in breaking down acetylcholine, a neurotransmitter that sends messages between nerves, leading to muscle contraction. If acetylcholine is not broken down, it may lead to an prolonged muscle contraction or stiffening of the muscles (myotonia).

Is Schwartz Jampel syndrome type 1 inherited ?

How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. Individuals with SJS1 inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). Rarely, cases of SJS1 with autosomal dominant inheritance have been reported. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

How to diagnose Schwartz Jampel syndrome type 1 ?

How is Schwartz Jampel syndrome type 1 diagnosed? The diagnosis of Schwartz Jampel syndrome type 1 (SJS1) is suspected based on clinical findings including characteristic facial features, skeletal features, and muscle stiffness (myotonia). Studies that may be useful in diagnosing SJS1 include: blood tests (which may show elevated serum creatine kinase or adolase); imaging studies; muscle biopsy; and electromyography (EMG)/nerve conduction studies. Genetic testing of the HSPG2 gene may additionally be helpful to confirm the diagnosis.

What are the treatments for Schwartz Jampel syndrome type 1 ?

How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include muscle relaxants and anti seizure medications, particularly Carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm (involuntary blinking of spasm of eyes). If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is the risk for malignant hyperthermia, which could lead to adverse outcomes.