[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Charcot-Marie-Tooth disease ?

[Assistant] What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease. 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 pharynx 90% Abnormality of the voice 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Incoordination 90% Kyphosis 90% Laryngomalacia 90% Scoliosis 90% Skeletal muscle atrophy 90% 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.


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[User] Do you have information about Tears

[Assistant] Summary : You may only think of tears as those salty drops that fall from your eyes when you cry. Actually, your tears clean your eyes every time you blink. Tears also keep your eyes moist, which is important for your vision.    Tear glands produce tears, and tear ducts carry the tears from the glands to the surface of your eye. Problems with the tear system can include too many tears, too few tears, or problems with the tear ducts. Treatment of the problem depends on the cause.


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[User] What causes Dry Mouth ?

[Assistant] People get dry mouth when the glands in the mouth that make saliva are not working properly. Because of this, there might not be enough saliva to keep your mouth healthy. There are several reasons why these glands, called salivary glands, might not work right. Medicines and Dry Mouth More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth. Diseases That Can Cause Dry Mouth Some diseases can affect the salivary glands. Dry mouth can occur in patients with diabetes. Dry mouth is also the hallmark symptom of the fairly common autoimmune disease Sjgren's syndrome. Sjgren's syndrome can occur either by itself or with another autoimmune disease like rheumatoid arthritis or lupus. Salivary and tear glands are the major targets of the syndrome and the result is a decrease in production of saliva and tears. The disorder can occur at any age, but the average person with the disorder at the Sjgren's Syndrome Clinic of the National Institute of Dental and Craniofacial Research (NIDCR) is in his or her late 50s. Women with the disorder outnumber men 9 to 1. Cancer Treatments and Dry Mouth Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky. Injury to the head or neck can damage the nerves that tell salivary glands to make saliva.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of SAPHO syndrome ?

[Assistant] What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO 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) Bone pain 90% Chest pain 90% Hyperostosis 90% Increased bone mineral density 90% Osteolysis 90% Abnormality of the sacroiliac joint 50% Acne 50% Arthritis 50% Osteomyelitis 50% Palmoplantar pustulosis 50% Psoriasis 50% Abdominal pain 7.5% Cranial nerve paralysis 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Recurrent fractures 7.5% Skin rash 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Vasculitis 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.


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[User] What is (are) Perineal Injury in Males ?

[Assistant] Perineal injury is an injury to the perineum, the part of the body between the anus and the genitals, or sex organs. In males, the perineum is the area between the anus and the scrotum, the external pouch of skin that holds the testicles. Injuries to the perineum can happen suddenly, as in an accident, or gradually, as the result of an activity that persistently puts pressure on the perineum. Sudden damage to the perineum is called an acute injury, while gradual damage is called a chronic injury.


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[User] What is (are) COPD ?

[Assistant] COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe. The two main types are chronic bronchitis and emphysema. The main cause of COPD is long-term exposure to substances that irritate and damage the lungs. This is usually cigarette smoke. Air pollution, chemical fumes, or dust can also cause it.    At first, COPD may cause no symptoms or only mild symptoms. As the disease gets worse, symptoms usually become more severe. They include       - A cough that produces a lot of mucus    - Shortness of breath, especially with physical activity    - Wheezing    - Chest tightness       Doctors use lung function tests, imaging tests, and blood tests to diagnose COPD. There is no cure. Treatments may relieve symptoms. They include medicines, oxygen therapy, surgery, or a lung transplant. Quitting smoking is the most important step you can take to treat COPD.     NIH: National Heart, Lung, and Blood Institute


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[User] What are the symptoms of Myopathy congenital ?

[Assistant] What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy congenital. 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 nervous system - Autosomal recessive inheritance - Myopathy - 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.


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[User] what research (or clinical trials) is being done for Encephaloceles ?

[Assistant] The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles.


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[User] Is geleophysic dysplasia inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What causes Mycobacterium Malmoense ?

[Assistant] How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.


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[User] What is (are) Prescription Drug Abuse ?

[Assistant] If you take a medicine in a way that is different from what the doctor prescribed, it is called prescription drug abuse. It could be       - Taking a medicine that was prescribed for someone else    - Taking a larger dose than you are supposed to    - Taking the medicine in a different way than you are supposed to. This might be crushing tablets and then snorting or injecting them.    - Using the medicine for another purpose, such as getting high       Abusing some prescription drugs can lead to addiction. These include narcotic painkillers, sedatives, tranquilizers, and stimulants.    Every medicine has some risk of side effects. Doctors take this into account when prescribing medicines. People who abuse these drugs may not understand the risks. The medicines may not be safe for them, especially at higher doses or when taken with other medicines.     NIH: National Institute on Drug Abuse


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[User] How to prevent Short Bowel Syndrome ?

[Assistant] People can ask their health care providers about surgical techniques that minimize scar tissue. Scientists have not yet found a way to prevent short bowel syndrome that is present at birth, as its cause is unknown.


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[User] What are the treatments for Colon Cancer ?

[Assistant]
Key Points
                    - There are different types of treatment for patients with colon cancer.     - Six types of standard treatment are used:         - Surgery     - Radiofrequency ablation     - Cryosurgery     - Chemotherapy     - Radiation therapy     - Targeted therapy        - New types of treatment are being tested in clinical trials.     - Patients may want to think about taking part in a clinical trial.    - Patients can enter clinical trials before, during, or after starting their cancer treatment.    - Follow-up tests may be needed.

                    There are different types of treatment for patients with colon cancer.
                    Different types of treatment are available for patients with colon cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.

                    Six types of standard treatment are used:
                    Surgery     Surgery (removing the cancer in an operation) is the most common treatment for all stages of colon cancer. A doctor may remove the cancer using one of the following types of surgery:            -  Local excision: If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube with a cutting tool through the rectum into the colon and cut the cancer out. This is called a local excision. If the cancer is found in a polyp (a small bulging area of tissue), the operation is called a polypectomy.     -  Resection of the colon with anastomosis: If the cancer is larger, the doctor will perform a partial colectomy (removing the cancer and a small amount of healthy tissue around it). The doctor may then perform an anastomosis (sewing the healthy parts of the colon together). The doctor will also usually remove lymph nodes near the colon and examine them under a microscope to see whether they contain cancer.     - Resection of the colon with colostomy: If the doctor is not able to sew the 2 ends of the colon back together, a stoma (an opening) is made on the outside of the body for waste to pass through. This procedure is called a colostomy. A bag is placed around the stoma to collect the waste. Sometimes the colostomy is needed only until the lower colon has healed, and then it can be reversed. If the doctor needs to remove the entire lower colon, however, the colostomy may be permanent.            Even if the doctor removes all the cancer that can be seen at the time of the operation, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy.       Radiofrequency ablation      Radiofrequency ablation is the use of a special probe with tiny electrodes that kill cancer cells. Sometimes the probe is inserted directly through the skin and only local anesthesia is needed. In other cases, the probe is inserted through an incision in the abdomen. This is done in the hospital with general anesthesia.       Cryosurgery     Cryosurgery is a treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy.       Chemotherapy    Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy).      Chemoembolization of the hepatic artery may be used to treat cancer that has spread to the liver. This involves blocking the hepatic artery (the main artery that supplies blood to the liver) and injecting anticancer drugs between the blockage and the liver. The livers arteries then deliver the drugs throughout the liver. Only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on what is used to block the artery. The liver continues to receive some blood from the hepatic portal vein, which carries blood from the stomach and intestine.    The way the chemotherapy is given depends on the type and stage of the cancer being treated.    See Drugs Approved for Colon and Rectal Cancer for more information.       Radiation therapy    Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:            -  External radiation therapy uses a machine outside the body to send radiation toward the cancer.     -  Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer.           The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used as palliative therapy to relieve symptoms and improve quality of life.       Targeted therapy     Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells.     Types of targeted therapies used in the treatment of colon cancer include the following:            -  Monoclonal antibodies: Monoclonal antibodies are made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells.                  -  Bevacizumab and ramucirumab are types of monoclonal antibodies that bind to a protein called vascular endothelial growth factor (VEGF). This may prevent the growth of new blood vessels that tumors need to grow.       -  Cetuximab and panitumumab are types of monoclonal antibodies that bind to a protein called epidermal growth factor receptor (EGFR) on the surface of some types of cancer cells. This may stop cancer cells from growing and dividing.                -  Angiogenesis inhibitors: Angiogenesis inhibitors stop the growth of new blood vessels that tumors need to grow.                   -  Ziv-aflibercept is a vascular endothelial growth factor trap that blocks an enzyme needed for the growth of new blood vessels in tumors.       -  Regorafenib is used to treat colorectal cancer that has spread to other parts of the body and has not gotten better with other treatment. It blocks the action of certain proteins, including vascular endothelial growth factor. This may help keep cancer cells from growing and may kill them. It may also prevent the growth of new blood vessels that tumors need to grow.                      See Drugs Approved for Colon and Rectal Cancer for more information.

                    New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.

                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.

                    Follow-up tests may be needed.
                    Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.   Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.

	            	Treatment Options for Colon Cancer

			                    Stage 0 (Carcinoma in Situ)
			                    Treatment of stage 0 (carcinoma in situ) may include the following types of surgery:         -  Local excision or simple polypectomy.    -  Resection and anastomosis. This is done when the tumor is too large to remove by local excision.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

			                    Stage I Colon Cancer
			                    Treatment of stage I colon cancer usually includes the following:         -  Resection and anastomosis.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

			                    Stage II Colon Cancer
			                    Treatment of stage II colon cancer may include the following:         -  Resection and anastomosis.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

			                    Stage III Colon Cancer
			                    Treatment of stage III colon cancer may include the following:         -  Resection and anastomosis which may be followed by chemotherapy.    -  Clinical trials of new chemotherapy regimens after surgery.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

			                    Stage IV and Recurrent Colon Cancer
			                    Treatment of stage IV and recurrent colon cancer may include the following:         -  Local excision for tumors that have recurred.    -  Resection with or without anastomosis.    -  Surgery to remove parts of other organs, such as the liver, lungs, and ovaries, where the cancer may have recurred or spread. Treatment of cancer that has spread to the liver may also include the following:               -  Chemotherapy given before surgery to shrink the tumor, after surgery, or both before and after.       -  Radiofrequency ablation or cryosurgery, for patients who cannot have surgery.      -  Chemoembolization of the hepatic artery.                       -  Radiation therapy or chemotherapy may be offered to some patients as palliative therapy to relieve symptoms and improve quality of life.    - Chemotherapy and/or targeted therapy with a monoclonal antibody or an angiogenesis inhibitor.     -  Clinical trials of chemotherapy and/or targeted therapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV colon cancer and recurrent colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.


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[User] What is (are) Weill-Marchesani syndrome ?

[Assistant] Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.  The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches.  An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.  Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.


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[User] What are the genetic changes related to hereditary hemorrhagic telangiectasia ?

[Assistant] Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia.  Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the gene SMAD4. All these genes provide instructions for making proteins that are found in the lining of the blood vessels. These proteins interact with growth factors that control blood vessel development. The gene involved in hereditary hemorrhagic telangiectasia type 3 is not known, but is believed to be located on chromosome 5.  Mutations in these genes generally prevent the production of the associated protein, or result in the production of a defective protein that cannot fulfill its function. An individual with a mutated gene will therefore have a reduced amount of the functional protein available in the tissue lining the blood vessels. This deficiency is believed to result in the signs and symptoms of hereditary hemorrhagic telangiectasia.


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[User] How many people are affected by intestinal pseudo-obstruction ?

[Assistant] Primary intestinal pseudo-obstruction is a rare disorder. Its prevalence is unknown. The prevalence of secondary intestinal pseudo-obstruction is also unknown, but it is believed to be more common than the primary form.


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[User] Is histidinemia inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What is (are) intranuclear rod myopathy ?

[Assistant] Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.  The severe muscle weakness that occurs in intranuclear rod myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking.  The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped structures that can be seen in the nucleus of muscle cells when muscle tissue is viewed under a microscope.


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[User] Who is at risk for What I need to know about Diverticular Disease? ?

[Assistant] Many people get diverticular disease. Starting at age 40, the chance of getting it increases about every 10 years. About half of people between the ages of 60 and 80 have diverticular disease. Almost everyone over 80 has it.


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[User] What are the genetic changes related to ataxia with oculomotor apraxia ?

[Assistant] Mutations in the APTX and SETX genes cause ataxia with oculomotor apraxia types 1 and 2, respectively. These genes provide instructions for making proteins that are involved in DNA repair.  Mutations in the APTX or SETX gene decrease the amount of functional protein that is available to repair damaged DNA, which leads to the accumulation of breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. DNA damage that is not repaired causes the cell to be unstable and can lead to cell death. It is thought that nerve cells in the brain are particularly affected by cell death because these cells do not copy (replicate) themselves to replace cells that have been lost. The part of the brain involved in coordinating movements (the cerebellum) is especially affected. It is thought that the loss of brain cells in the cerebellum causes the movement problems characteristic of ataxia with oculomotor apraxia.  Mutations in other genes are responsible for the rare types of ataxia with oculomotor apraxia.


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[User] What are the treatments for Leukemia ?

[Assistant] There are many treatment options for people with leukemia. The choice of treatment depends on your age and general health, the type of leukemia you have, whether or not it has spread outside the bone marrow, and other factors. If tests show that you have leukemia, you should talk with your doctor and make treatment decisions as soon as possible, although many patients with chronic lymphocytic leukemia do not require treatment for many years. Working With a Team of Specialists A team of specialists often treats people with leukemia. The team will keep the primary doctor informed about the patient's progress. The team may include a hematologist who is a specialist in blood and blood-forming tissues, a medical oncologist who is a specialist in cancer treatment, and a radiation oncologist who is a specialist in radiation therapy. 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 or your doctor requests it. Clinical Trials for Leukemia Some leukemia patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe and effective and better than current treatments. Talk to your doctor if you are interested in taking part in a clinical trial. 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. Click here to search for current clinical trials on leukemia.


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[User] How to diagnose Plasma Cell Neoplasms (Including Multiple Myeloma) ?

[Assistant] Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -  Blood and urine immunoglobulin studies: A procedure in which a blood or urine sample is checked to measure the amounts of certain antibodies (immunoglobulins). For multiple myeloma, beta-2-microglobulin, M protein, free light chains, and other proteins made by the myeloma cells are measured. A higher-than-normal amount of these substances can be a sign of disease.    -   Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. The following test may be done on the sample of tissue removed during the bone marrow aspiration and biopsy:                -  Cytogenetic analysis : A test in which cells in a sample of bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH) and flow cytometry, may also be done to look for certain changes in the chromosomes.             -   Skeletal bone survey: In a skeletal bone survey, x-rays of all the bones in the body are taken. The x-rays are used to find areas where the bone is damaged. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body.     -   Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following:               - The number of red blood cells and platelets.      - The number and type of white blood cells.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.      -  The portion of the blood sample made up of red blood cells.               -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as calcium or albumin, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.    -  Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of protein may be a sign of multiple myeloma.     -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). An MRI of the spine and pelvis may be used to find areas where the bone is damaged.    -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the spine, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.     -   PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time with the same machine. The combined scans give more detailed pictures of areas inside the body, such as the spine, than either scan gives by itself.


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[User] How many people are affected by hypokalemic periodic paralysis ?

[Assistant] Although its exact prevalence is unknown, hypokalemic periodic paralysis is estimated to affect 1 in 100,000 people. Men tend to experience symptoms of this condition more often than women.


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[User] What are the treatments for prothrombin thrombophilia ?

[Assistant] These resources address the diagnosis or management of prothrombin thrombophilia:  - Gene Review: Gene Review: Prothrombin-Related Thrombophilia  - Genetic Testing Registry: Thrombophilia  - MedlinePlus Encyclopedia: Deep venous thrombosis  - MedlinePlus Encyclopedia: Pulmonary embolus   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay inherited ?

[Assistant] SHORT syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.


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[User] What is (are) oculocutaneous albinism ?

[Assistant] Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).  Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.  Several additional types of this disorder have been proposed, each affecting one or a few families.


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[User] Do you have information about Diagnostic Imaging

[Assistant] Summary : Diagnostic imaging lets doctors look inside your body for clues about a medical condition. A variety of machines and techniques can create pictures of the structures and activities inside your body. The type of imaging your doctor uses depends on your symptoms and the part of your body being examined. They include       - X-rays    - CT scans    - Nuclear medicine scans    - MRI scans    - Ultrasound       Many imaging tests are painless and easy. Some require you to stay still for a long time inside a machine. This can be uncomfortable. Certain tests involve exposure to a small amount of radiation.    For some imaging tests, doctors insert a tiny camera attached to a long, thin tube into your body. This tool is called a scope. The doctor moves it through a body passageway or opening to see inside a particular organ, such as your heart, lungs, or colon. These procedures often require anesthesia.


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[User] What is (are) Asthma ?

[Assistant] Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms ("asthma attacks") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. Asthma is considered a complex or multifactorial condition that is likely due to a combination of multiple genetic, environmental, and lifestyle factors. Many people with asthma have a personal or family history of allergies, such as hay fever or eczema. Having a family member with asthma is associated with an increased risk of developing the condition. Treatment generally includes various medications, both to prevent asthma attacks and to provide quick relief during an attack.


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[User] What is (are) multiple cutaneous and mucosal venous malformations ?

[Assistant] Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling.  Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.


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[User] What causes Diabetic Heart Disease ?

[Assistant]
At least four complex processes, alone or combined, can lead to diabetic heart disease (DHD). They include coronary atherosclerosis; metabolic syndrome; insulin resistance in people who have type 2 diabetes; and the interaction of coronary heart disease (CHD), high blood pressure, and diabetes.

Researchers continue to study these processes because all of the details aren't yet known.

Coronary Atherosclerosis

Atherosclerosis is a disease in which plaque builds up inside the arteries. The exact cause of atherosclerosis isn't known. However, studies show that it is a slow, complex disease that may start in childhood. The disease develops faster as you age.

Coronary atherosclerosis may start when certain factors damage the inner layers of the coronary (heart) arteries. These factors include:

Smoking

High amounts of certain fats and cholesterol in the blood

High blood pressure

High amounts of sugar in the blood due to insulin resistance or diabetes

Plaque may begin to build up where the arteries are damaged. Over time, plaque hardens and narrows the arteries. This reduces the flow of oxygen-rich blood to your heart muscle.

Eventually, an area of plaque can rupture (break open). When this happens, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots.

Blood clots narrow the coronary arteries even more. This limits the flow of oxygen-rich blood to your heart and may worsen angina (chest pain) or cause a heart attack.

Metabolic Syndrome

Metabolic syndrome is the name for a group of risk factors that raises your risk of both CHD and type 2 diabetes.

If you have three or more of the five metabolic risk factors, you have metabolic syndrome. The risk factors are:

A large waistline (a waist measurement of 35 inches or more for women and 40 inches or more for men).

A high triglyceride (tri-GLIH-seh-ride) level (or youre on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood.

A low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called "good" cholesterol. This is because it helps remove cholesterol from your arteries.

High blood pressure (or youre on medicine to treat high blood pressure).

A high fasting blood sugar level (or you're on medicine to treat high blood sugar).

It's unclear whether these risk factors have a common cause or are mainly related by their combined effects on the heart.

Obesity seems to set the stage for metabolic syndrome. Obesity can cause harmful changes in body fats and how the body uses insulin.

Chronic (ongoing) inflammation also may occur in people who have metabolic syndrome. Inflammation is the body's response to illness or injury. It may raise your risk of CHD and heart attack. Inflammation also may contribute to or worsen metabolic syndrome.

Research is ongoing to learn more about metabolic syndrome and how metabolic risk factors interact.

Insulin Resistance in People Who Have Type 2 Diabetes

Type 2 diabetes usually begins with insulin resistance. Insulin resistance means that the body can't properly use the insulin it makes.

People who have type 2 diabetes and insulin resistance have higher levels of substances in the blood that cause blood clots. Blood clots can block the coronary arteries and cause a heart attack or even death.

The Interaction of Coronary Heart Disease, High Blood Pressure, and Diabetes

Each of these risk factors alone can damage the heart. CHD reduces the flow of oxygen-rich blood to your heart muscle. High blood pressure and diabetes may cause harmful changes in the structure and function of the heart.

Having CHD, high blood pressure, and diabetes is even more harmful to the heart. Together, these conditions can severely damage the heart muscle. As a result, the heart has to work harder than normal. Over time, the heart weakens and isnt able to pump enough blood to meet the bodys needs. This condition is called heart failure.

As the heart weakens, the body may release proteins and other substances into the blood. These proteins and substances also can harm the heart and worsen heart failure.


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[User] Who is at risk for Breast Cancer? ?

[Assistant] Some women develop breast cancer and others do not, and the risk factors for the disease vary. Breast cancer may affect younger women, but three-fourths of all breast cancers occur in women between the ages of 45 to 85. In Situ and Invasive Breast Cancer Researchers often talk about breast cancer in two ways: in situ and invasive. In situ refers to cancer that has not spread beyond its site of origin. Invasive applies to cancer that has spread to the tissue around it. This chart shows what the approximate chances are of a woman getting invasive breast cancer in her lifetime. Risk Factors 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. -   Older age. The risk of breast cancer in a 70 year old woman is about 10 times that of a 30 year old woman, but risk decreases after age 85.  Older age. The risk of breast cancer in a 70 year old woman is about 10 times that of a 30 year old woman, but risk decreases after age 85. - 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. 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. 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. Never being pregnant or having your first child in your mid-30s or later. - Early menstruation. Having your first menstrual period before age 12. 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.  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.  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. 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.  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. 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. 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. 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. 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. Warning Signs 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.


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[User] Who is at risk for Angina? ?

[Assistant]
Angina is a symptom of an underlying heart problem. Its usually a symptom of coronary heart disease (CHD), but it also can be a symptom of coronary microvascular disease (MVD). So, if youre at risk for CHD or coronary MVD, youre also at risk for angina.

The major risk factors for CHD and coronary MVD include:

Unhealthy cholesterol levels.

High blood pressure.

Smoking.

Insulin resistance or diabetes.

Overweight or obesity.

Metabolic syndrome.

Lack of physical activity.

Unhealthy diet.

Older age. (The risk increases for men after 45 years of age and for women after 55 years of age.)

Family history of early heart disease.

For more detailed information about CHD and coronary MVD risk factors, visit the Diseases and Conditions Index Coronary Heart Disease, Coronary Heart Disease Risk Factors, and Coronary Microvascular Disease articles.

People sometimes think that because men have more heart attacks than women, men also suffer from angina more often. In fact, overall, angina occurs equally among men and women.

Microvascular angina, however, occurs more often in women. About 70 percent of the cases of microvascular angina occur in women around the time of menopause.

Unstable angina occurs more often in older adults. Variant angina is rare; it accounts for only about 2 out of 100 cases of angina. People who have variant angina often are younger than those who have other forms of angina.


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[User] What are the genetic changes related to Stormorken syndrome ?

[Assistant] Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that helps control gene activity, cell growth and division, and immune function.  The STIM1 gene mutation involved in Stormorken syndrome leads to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. Researchers suggest that the abnormal ion flow in platelets causes the cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads to the other features of the disorder.


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[User] What is (are) factor V deficiency ?

[Assistant] Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. Women with factor V deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.


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[User] What is (are) fragile XE syndrome ?

[Assistant] Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. Females are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild that the individuals function normally.  Learning disabilities are the most common sign of impaired cognitive function in people with fragile XE syndrome. The learning disabilities are likely a result of communication and behavioral problems, including delayed speech, poor writing skills, hyperactivity, and a short attention span. Some affected individuals display autistic behaviors, such as hand flapping, repetitive behaviors, and intense interest in a particular subject. Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome.


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[User] How to diagnose Hemochromatosis ?

[Assistant]
Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures.

The disease sometimes is detected while checking for other diseases or conditions, such as arthritis, liver disease, diabetes, heart disease, or erectile dysfunction (impotence).

Specialists Involved

Family doctors and internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including:

Hematologists (blood disease specialists)

Cardiologists (heart specialists)

Endocrinologists (gland system specialists)

Hepatologists (liver specialists)

Gastroenterologists (digestive tract specialists)

Rheumatologists (specialists in diseases of the joints and tissues)

Medical and Family Histories

To learn about your medical and family histories, your doctor may ask:

About your signs and symptoms, including when they started and their severity.

Whether you take iron (pills or injections) with or without vitamin C supplements (vitamin C helps your body absorb iron from food). If so, your doctor may ask how much iron you take. This information can help him or her diagnose secondary hemochromatosis.

Whether other members of your family have hemochromatosis.

Whether other members of your family have a history of medical problems or diseases related to hemochromatosis.

Physical Exam

Your doctor will do a physical exam to check for signs and symptoms of hemochromatosis. He or she will listen to your heart for irregular heartbeats and check for arthritis, abnormal skin color, and an enlarged liver.

Diagnostic Tests and Procedures

Your doctor may recommend one or more tests or procedures to diagnose hemochromatosis.

Blood Tests

In hemochromatosis, the amount of iron in your body may be too high, even though the level of iron in your blood is normal. Certain blood tests can help your doctor find out how much iron is in your body.

During these tests, a sample of blood is taken from your body. It's usually drawn from a vein in your arm using a needle. The procedure usually is quick and easy, although it may cause some short-term discomfort.

The blood tests you have may include transferrin saturation (TS), serum ferritin level, and liver function tests.

Transferrin is a protein that carries iron in the blood. The TS test shows how much iron the transferrin is carrying. This helps your doctor find out how much iron is in your body.

Your doctor may test your serum ferritin level if your TS level is high. A serum ferritin level test shows how much iron is stored in your body's organs. A buildup of iron may suggest hemochromatosis.

You may have liver function tests to check for damage to your liver. Liver damage may be a sign of hemochromatosis. If you have hemochromatosis, liver function tests may show the severity of the disease.

Blood tests alone can't diagnose hemochromatosis. Thus, your doctor may recommend other tests as well.

Liver Biopsy

During a liver biopsy, your doctor numbs an area near your liver and then removes a small sample of liver tissue using a needle. The tissue is then looked at under a microscope.

A liver biopsy can show how much iron is in your liver. This procedure also can help your doctor diagnose liver damage (for example, scarring and cancer). Liver biopsies are less common now than in the past.

Magnetic Resonance Imaging

Magnetic resonance imaging (MRI) is a safe test that uses radio waves, magnets, and a computer to create pictures of your organs. An MRI may be done to show the amount of iron in your liver.

Superconducting Quantum Interference Device

A superconducting quantum interference device (SQuID) is a machine that uses very sensitive magnets to measure the amount of iron in your liver. This machine is available at only a few medical centers.

Genetic Testing

Genetic testing can show whether you have a faulty HFE gene or genes. However, even if you do have two faulty HFE genes, the genetic test can't predict whether you'll develop signs and symptoms of hemochromatosis.

Also, genetic testing may not detect other, less common faulty genes that also can cause hemochromatosis.

There are two ways to do genetic testing. Cells can be collected from inside your mouth using a cotton swab, or a sample of blood can be drawn from a vein in your arm.

People who have hemochromatosis (or a family history of it) and are planning to have children may want to consider genetic testing and counseling. Testing will help show whether one or both parents have faulty HFE genes. A genetic counselor also can help figure out the likelihood of the parents passing the faulty genes on to their children.


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[User] What is (are) Stroke ?

[Assistant] Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. With timely treatment these cells can be saved. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital as quickly as possible are critical.


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[User] What are the treatments for 3-Hydroxyisobutyric aciduria ?

[Assistant] How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success.


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[User] What is the outlook for Pelizaeus-Merzbacher Disease ?

[Assistant] The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.


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[User] What is (are) Paget disease of bone ?

[Assistant] Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.


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[User] What is (are) Nance-Horan syndrome ?

[Assistant] Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.The treatment is directed toward the specific symptoms that are apparent in the individual.


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[User] How to diagnose Parasites - Lice - Head Lice ?

[Assistant]
Misdiagnosis of head lice infestation is common. The diagnosis of head lice infestation is best made by finding a live nymph or adult louse on the scalp or hair of a person.

Because adult and nymph lice are very small, move quickly, and avoid light, they may be difficult to find. Use of a fine-toothed louse comb may facilitate identification of live lice.

If crawling lice are not seen, finding nits attached firmly within ¼ inch of the base of hair shafts suggests, but does not confirm, the person is infested. Nits frequently are seen on hair behind the ears and near the back of the neck. Nits that are attached more than ¼ inch from the base of the hair shaft are almost always non-viable (hatched or dead). Head lice and nits can be visible with the naked eye, although use of a magnifying lens may be necessary to find crawling lice or to identify a developing nymph inside a viable nit. Nits are often confused with other particles found in hair such as dandruff, hair spray droplets, and dirt particles.

If no nymphs or adults are seen, and the only nits found are more than ¼ inch from the scalp, then the infestation is probably old and no longer active — and does not need to be treated.


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[User] What is (are) McKusick-Kaufman syndrome ?

[Assistant] McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.  Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Hydrometrocolpos results from a blockage of the vagina before birth, which can occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane blocks the opening of the vagina. This blockage allows fluid to build up in the vagina and uterus, stretching these organs and leading to a fluid-filled mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include placement of the urethral opening on the underside of the penis (hypospadias), a downward-curving penis (chordee), and undescended testes (cryptorchidism).  The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman syndrome, however. These include vision loss, delayed development, obesity, and kidney (renal) failure. Because some of these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.


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[User] What are the treatments for Chapare Hemorrhagic Fever (CHHF) ?

[Assistant]
Supportive therapy is important in CHHF. This includes:

    - maintenance of hydration
    - management of shock
    - sedation
    - pain relief
    - usual precautions for patients with bleeding disorders
    - transfusions (when necessary)

Use of convalescent plasma therapy for treatment of AHF reduces mortality significantly and anecdotal evidence shows that the antiviral drug ribavirin may also hold promise for treating AHF. Ribavirin has also been considered for preventing development of disease in people exposed to other arenaviruses.
   Recovery

The precise mortality of CHHF is unknown and the only described case was fatal.

Patients who have suffered from other arenaviruses may continue to excrete virus in urine or semen for weeks after recovery. For this reason, these fluids should be monitored for infectivity, since convalescent patients have the potential to infect others (particularly sexual partners) via these fluids.


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[User] What is (are) Gallstones ?

[Assistant]
Gallstones are hard particles that develop in the gallbladder. The gallbladder is a small, pear-shaped organ located in the upper right abdomenthe area between the chest and hipsbelow the liver.

Gallstones can range in size from a grain of sand to a golf ball. The gallbladder can develop a single large gallstone, hundreds of tiny stones, or both small and large stones. Gallstones can cause sudden pain in the upper right abdomen. This pain, called a gallbladder attack or biliary colic, occurs when gallstones block the ducts of the biliary tract.


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[User] What is (are) Horizontal gaze palsy with progressive scoliosis ?

[Assistant] Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


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[User] How many people are affected by Short Bowel Syndrome ?

[Assistant] Short bowel syndrome is a rare condition. Each year, short bowel syndrome affects about three out of every million people.1


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Heartburn ?

[Assistant] Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach.    If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn.    Pregnancy, certain foods, alcohol, and some medications can bring on heartburn. Treating heartburn is important because over time reflux can damage the esophagus.    Over-the-counter medicines may help. If the heartburn continues, you may need prescription medicines or surgery.     If you have other symptoms such as crushing chest pain, it could be a heart attack. Get help immediately.


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[User] Who is at risk for Osteoporosis? ?

[Assistant] The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength   - poor balance  -  impaired eyesight  - impaired mental abilities   - certain medications, such as tranquilizers and muscle relaxants  - hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks.  decreased muscle strength poor balance impaired eyesight impaired mental abilities certain medications, such as tranquilizers and muscle relaxants hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks.


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[User] What are the symptoms of Hemolytic uremic syndrome ?

[Assistant] What are the signs and symptoms of Hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic 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) Acute kidney injury - Anuria - Autosomal dominant inheritance - Autosomal recessive inheritance - Cognitive impairment - Coma - Decreased serum complement C3 - Decreased serum complement factor B - Decreased serum complement factor H - Decreased serum complement factor I - Diarrhea - Dysphasia - Elevated serum creatinine - Fever - Hemiparesis - Hemolytic-uremic syndrome - Hyperlipidemia - Hypertension - Increased blood urea nitrogen (BUN) - Microangiopathic hemolytic anemia - Purpura - Reticulocytosis - Schistocytosis - Seizures - Thrombocytopenia - 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.


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[User] What is the outlook for Neuromyelitis Optica ?

[Assistant] Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. Most individuals experience some degree of permanent limb weakness or vision loss from NMO. However, reducing the number of attacks with immunosuppressive medications may help prevent with accumulation of disability. Rarely, muscle weakness can be severe enough to cause breathing difficulties and may require the use of artificial ventilation.


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[User] What is the outlook for Childhood Astrocytomas ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - Whether the tumor is a low-grade or high-grade astrocytoma.    - Where the tumor has formed in the CNS and if it has spread to nearby tissue or to other parts of the body.    - How fast the tumor is growing.    - The child's age.    - Whether cancer cells remain after surgery.    - Whether there are changes in certain genes.    - Whether the child has NF1 or tuberous sclerosis.    - Whether the child has diencephalic syndrome (a condition which slows physical growth).    - Whether the child has intracranial hypertension (cerebrospinal fluid pressure within the skull is high) at the time of diagnosis.    - Whether the astrocytoma has just been diagnosed or has recurred (come back).        For recurrent astrocytoma, prognosis and treatment depend on how much time passed between the time treatment ended and the time the astrocytoma recurred.


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[User] What are the symptoms of Gout ?

[Assistant] Gout is a form of arthritis that frequently affects joints in the lower part of the body such as the knees, ankles, or toes. The affected joint may become swollen, red, or warm. Attacks usually occur at night. Sometime during the course of the disease, many patients will develop gout in the big toe. Other signs and symptoms of gout include - hyperuricemia -- high levels of uric acid in the body   - the presence of uric acid crystals in joint fluid   - more than one attack of acute arthritis  - arthritis that develops in a day, producing a swollen, red, and warm joint  - attack of arthritis in only one joint, often the toe, ankle, or knee. hyperuricemia -- high levels of uric acid in the body the presence of uric acid crystals in joint fluid more than one attack of acute arthritis arthritis that develops in a day, producing a swollen, red, and warm joint attack of arthritis in only one joint, often the toe, ankle, or knee.


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[User] what is botulism?

[Assistant] Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum and sometimes by strains of Clostridium butyricum and Clostridium baratii. There are five main kinds of botulism. Foodborne botulism is caused by eating foods that contain the botulinum toxin. Wound botulism is caused by toxin produced from a wound infected with Clostridium botulinum. Infant botulism is caused by consuming the spores of the botulinum bacteria, which then grow in the intestines and release toxin. Adult intestinal toxemia (adult intestinal colonization) botulism is a very rare kind of botulism that occurs among adults by the same route as infant botulism. Lastly, iatrogenic botulism can occur from accidental overdose of botulinum toxin. All forms of botulism can be fatal and are considered medical emergencies. Foodborne botulism is a public health emergency because many people can be poisoned by eating a contaminated food.


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[User] What is (are) Fabry disease ?

[Assistant] Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.


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[User] What is (are) SUNCT Headache ?

[Assistant]
SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, piercing, or throbbing pain, usually on one side of the head and around the eye or temple. The pain usually peaks within seconds of onset and may follow a pattern of increasing and decreasing intensity. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Individuals generally have five to six attacks per hour.

Autonomic nervous system responses include watery eyes, reddish or bloodshot eyes caused by dilation of blood vessels (conjunctival injection), nasal congestion, runny nose, sweaty forehead, swelling of the eyelids, and increased pressure within the eye on the affected side of head. Systolic blood pressure may rise during the attacks. Movement of the neck may trigger these headaches. SUNCT may be a form of trigeminal neuralgia and is considered one of the trigeminal autonomic cephalgias, or TACs.


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[User] How many people are affected by essential thrombocythemia ?

[Assistant] Essential thrombocythemia affects an estimated 1 to 24 per 1 million people worldwide.


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[User] What is (are) Marfan syndrome ?

[Assistant] Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new mutation. Treatment is symptomatic and supportive.


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[User] What is (are) Congenital Myopathy ?

[Assistant]
A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.

Muscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing.

There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook.

Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life.

Myotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder.

Centronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time.

Central core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder.

Multi-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements.

Congenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems.

Hyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable.


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[User] What is (are) Juvenile dermatomyositis ?

[Assistant] Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected.  About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.


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[User] What are the treatments for Wolf-Hirschhorn syndrome ?

[Assistant] These resources address the diagnosis or management of Wolf-Hirschhorn syndrome:  - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome  - Genetic Testing Registry: 4p partial monosomy syndrome  - MedlinePlus Encyclopedia: Epilepsy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for Stve-Wiedemann syndrome ?

[Assistant] These resources address the diagnosis or management of Stve-Wiedemann syndrome:  - Genetic Testing Registry: Stuve-Wiedemann syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is primary sclerosing cholangitis inherited ?

[Assistant] The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease.


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[User] What is (are) Diabetic Nerve Problems ?

[Assistant] If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage the covering on your nerves or the blood vessels that bring oxygen to your nerves. Damaged nerves may stop sending messages, or may send messages slowly or at the wrong times.     This damage is called diabetic neuropathy. Over half of people with diabetes get it. Symptoms may include       - Numbness in your hands, legs, or feet    - Shooting pains, burning, or tingling    - Nausea, vomiting, constipation, or diarrhea    - Problems with sexual function    - Urinary problems    - Dizziness when you change positions quickly       Your doctor will diagnose diabetic neuropathy with a physical exam and nerve tests. Controlling your blood sugar can help prevent nerve problems, or keep them from getting worse. Treatment may include pain relief and other medicines.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] What are the symptoms of De Barsy syndrome ?

[Assistant] What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy 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 fontanelles or cranial sutures 90% Cataract 90% Cognitive impairment 90% Cutis laxa 90% Hyperextensible skin 90% Hyperreflexia 90% Joint hypermobility 90% Muscular hypotonia 90% Opacification of the corneal stroma 90% Prematurely aged appearance 90% Short stature 90% Wide nasal bridge 90% Abnormality of adipose tissue 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Broad forehead 50% Macrotia 50% Abnormality of female external genitalia 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the hip bone 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Blue sclerae 7.5% Chorea 7.5% Flexion contracture 7.5% Genu recurvatum 7.5% Joint dislocation 7.5% Pectus excavatum 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Umbilical hernia 7.5% Cryptorchidism 5% Athetosis - Autosomal recessive inheritance - Brachycephaly - Congenital hip dislocation - Corneal arcus - Delayed skeletal maturation - Failure to thrive - Frontal bossing - Hypertelorism - Hypotelorism - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Large fontanelles - Low-set ears - Myopia - Narrow mouth - Narrow nasal ridge - Prominent forehead - Prominent superficial blood vessels - Seizures - Severe short stature - Sparse hair - Sporadic - Strabismus - Talipes equinovarus - Thin skin - Wide cranial sutures - Wormian bones - 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.


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[User] Is 48,XXYY syndrome inherited ?

[Assistant] Can 48,XXYY syndrome be inherited?


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[User] How many people are affected by Prolactinoma ?

[Assistant] Although small benign pituitary tumors are fairly common in the general population, symptomatic prolactinomas are uncommon. Prolactinomas occur more often in women than men and rarely occur in children.


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[User] How many people are affected by glycogen storage disease type 0 ?

[Assistant] The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed.


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[User] What are the symptoms of Hendra Virus Disease (HeV) ?

[Assistant]
After an incubation of 9-16 days, infection with Hendra virus can lead to respiratory illness with severe flu-like signs and symptoms. In some cases, illness may progress to encephalitis.

Although infection with Hendra virus is rare, the case fatality is high: 4/7 (57%).