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[User] What are the treatments for Childhood Liver Cancer ?

[Assistant]
Key Points
                    - There are different types of treatment for patients with childhood liver cancer.    - Children with liver cancer should have their treatment planned by a team of healthcare providers who are experts in treating this rare childhood cancer.    - Some cancer treatments cause side effects months or years after treatment has ended.     - Six types of standard treatment are used:         - Surgery     - Watchful waiting     - Chemotherapy     - Radiation therapy     - Ablation therapy     - Antiviral treatment        - New types of treatment are being tested in clinical trials.         - Targeted therapy        - 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 childhood liver cancer.
                    Different types of treatments are available for children with liver 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.   Taking part in a clinical trial should be considered for all children with liver cancer. Some clinical trials are open only to patients who have not started treatment.

                    Children with liver cancer should have their treatment planned by a team of healthcare providers who are experts in treating this rare childhood cancer.
                    Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other healthcare providers who are experts in treating children with liver cancer and who specialize in certain areas of medicine. It is especially important to have a pediatric surgeon with experience in liver surgery who can send patients to a liver transplant program if needed. Other specialists may include the following:         -  Pediatrician.    -  Radiation oncologist.    -  Pediatric nurse specialist.    -  Rehabilitation specialist.    -  Psychologist.    -  Social worker.

                    Some cancer treatments cause side effects months or years after treatment has ended.
                    Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include:          - Physical problems.     - Changes in mood, feelings, thinking, learning, or memory.     -  Second cancers (new types of cancer).        Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information).

                    Six types of standard treatment are used:
                    Surgery    When possible, the cancer is removed by surgery.            - Partial hepatectomy: Removal of the part of the liver where cancer is found. The part removed may be a wedge of tissue, an entire lobe, or a larger part of the liver, along with a small amount of normal tissue around it.      - Total hepatectomy and liver transplant: Removal of the entire liver followed by a transplant of a healthy liver from a donor. A liver transplant may be possible when cancer has not spread beyond the liver and a donated liver can be found. If the patient has to wait for a donated liver, other treatment is given as needed.      -  Resection of metastases: Surgery to remove cancer that has spread outside of the liver, such as to nearby tissues, the lungs, or the brain.            Factors that affect the type of surgery used include the following:            - The PRETEXT group and POSTTEXT group.     - The size of the primary tumor.     - Whether there is more than one tumor in the liver.     - Whether the cancer has spread to nearby large blood vessels.     - The level of alpha-fetoprotein (AFP) in the blood.     - Whether the tumor can be shrunk by chemotherapy so that it can be removed by surgery.     - Whether a liver transplant is needed.           Chemotherapy is sometimes given before surgery, to shrink the tumor and make it easier to remove. This is called neoadjuvant therapy.    Even if the doctor removes all the cancer that can be seen at the time of the surgery, 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.       Watchful waiting     Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. In hepatoblastoma, this treatment is only used for small tumors that have been completely removed by surgery.       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). Treatment using more than one anticancer drug is called combination chemotherapy.      Chemoembolization of the hepatic artery (the main artery that supplies blood to the liver) is a type of regional chemotherapy used to treat childhood liver cancer. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with a substance that blocks the artery, cutting off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on the substance used to block the artery. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine. This procedure is also called transarterial chemoembolization or TACE.    The way the chemotherapy is given depends on the type of the cancer being treated and the PRETEXT or POSTTEXT group.        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 of the cancer being treated and the PRETEXT or POSTTEXT group. Radioembolization of the hepatic artery (the main artery that supplies blood to the liver) is a type of internal radiation therapy used to treat hepatocellular carcinoma. A very small amount of a radioactive substance is attached to tiny beads that are injected into the hepatic artery through a catheter (thin tube). The beads are mixed with a substance that blocks the artery, cutting off blood flow to the tumor. Most of the radiation is trapped near the tumor to kill the cancer cells. This is done to relieve symptoms and improve quality of life for children with hepatocellular carcinoma. External radiation therapy is used to treat hepatoblastoma that cannot be removed by surgery or has spread to other parts of the body.       Ablation therapy     Ablation therapy removes or destroys tissue. Different types of ablation therapy are used for liver cancer:             -  Radiofrequency ablation: The use of special needles that are inserted directly through the skin or through an incision in the abdomen to reach the tumor. High-energy radio waves heat the needles and tumor which kills cancer cells. Radiofrequency ablation is being used to treat recurrent hepatoblastoma.     -  Percutaneous ethanol injection: A small needle is used to inject ethanol (pure alcohol) directly into a tumor to kill cancer cells. Several treatments may be needed. Percutaneous ethanol injection is being used to treat recurrent hepatoblastoma.              Antiviral treatment    Hepatocellular carcinoma that is linked to the hepatitis B virus may be treated with antiviral drugs.

                    New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Targeted therapy     Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied for the treatment of undifferentiated embryonal sarcoma of the liver and liver cancer that has come back.

                    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 treatment group 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 Childhood Liver Cancer

		                    Hepatoblastoma
		                    Treatment options for hepatoblastoma that can be removed by surgery at the time of diagnosis may include the following:         -  Surgery to remove the tumor, followed by watchful waiting or chemotherapy, for hepatoblastoma with pure fetal histology.    - Surgery to remove the tumor, with combination chemotherapy given either before surgery, after surgery, or both, for hepatoblastoma that is not pure fetal histology. For hepatoblastoma with small cell undifferentiated histology, aggressive chemotherapy is given.        Treatment options for hepatoblastoma that cannot be removed by surgery or is not removed at the time of diagnosis may include the following:         - Combination chemotherapy to shrink the tumor, followed by surgery to remove the tumor.    - Combination chemotherapy followed by a liver transplant.    -  Chemoembolization of the hepatic artery to shrink the tumor, followed by surgery to remove the tumor.        For hepatoblastoma that has spread to other parts of the body at the time of diagnosis, combination chemotherapy is given to shrink the cancer in the liver and cancer that has spread to other parts of the body. After chemotherapy, imaging tests are done to check whether the cancer can be removed by surgery.    Treatment options may include the following:         - If the cancer in the liver and other parts of the body can be removed, surgery will be done to remove the tumors followed by chemotherapy to kill any cancer cells that may remain.    - If the cancer in the liver cannot be removed by surgery but there are no signs of cancer in other parts of the body, the treatment may be a liver transplant.     - If the cancer in other parts of the body cannot be removed or a liver transplant is not possible, chemotherapy, chemoembolization of the hepatic artery, or radiation therapy may be given.        Treatment options in clinical trials for newly diagnosed hepatoblastoma include:         - A clinical trial of new treatment regimens based on how likely it is the cancer will recur after initial treatment.

		                    Hepatocellular Carcinoma
		                    Treatment options for hepatocellular carcinoma that can be removed by surgery at the time of diagnosis may include the following:         - Surgery alone to remove the tumor.    -  Surgery to remove the tumor, followed by chemotherapy.    -  Combination chemotherapy followed by surgery to remove the tumor.        Treatment options for hepatocellular carcinoma that cannot be removed by surgery at the time of diagnosis may include the following:         - Chemotherapy to shrink the tumor, followed by surgery to completely remove the tumor.    - Chemotherapy to shrink the tumor. If surgery to completely remove the tumor is not possible, further treatment may include the following:               -  Liver transplant.      - Chemoembolization of the hepatic artery to shrink the tumor, followed by surgery to remove as much of the tumor as possible or liver transplant.      - Chemoembolization of the hepatic artery alone.             -  Radioembolization of the hepatic artery as palliative therapy to relieve symptoms and improve the quality of life.        Treatment for hepatocellular carcinoma that has spread to other parts of the body at the time of diagnosis may include:         - Combination chemotherapy to shrink the tumor, followed by surgery to remove as much of the tumor as possible from the liver and other places where cancer has spread. Studies have not shown that this treatment works well but some patients may have some benefit.        Treatment options for hepatocellular carcinoma related to hepatitis B virus (HBV) infection include:         - Surgery to remove the tumor.    -  Antiviral drugs that treat infection caused by the hepatitis B virus.

		                    Undifferentiated Embryonal Sarcoma of the Liver
		                    Treatment options for undifferentiated embryonal sarcoma of the liver (UESL) may include the following:         -  Combination chemotherapy to shrink the tumor, followed by surgery to remove as much of the tumor as possible. Chemotherapy may also be given after surgery to remove the tumor.    - Surgery to remove the tumor followed by chemotherapy. A second surgery may be done to remove tumor that remains, followed by more chemotherapy.    -  Liver transplant if surgery to remove the tumor is not possible.    - A clinical trial of a combination of targeted therapy, chemotherapy and/or radiation therapy before surgery.

		                    Infantile Choriocarcinoma of the Liver
		                    Treatment options for choriocarcinoma of the liver in infants may include the following:          -  Combination chemotherapy to shrink the tumor, followed by surgery to remove the tumor.    - Surgery to remove the tumor.

		                    Recurrent Childhood Liver Cancer
		                    Treatment of recurrent hepatoblastoma may include the following:         -  Surgery to remove isolated (single and separate) metastatic tumors with or without chemotherapy.    -  Combination chemotherapy.    -  Liver transplant.    -  Ablation therapy (radiofrequency ablation or percutaneous ethanol injection).    - A clinical trial of a new treatment.        Treatment of progressive or recurrent hepatocellular carcinoma may include the following:         -  Chemoembolization of the hepatic artery to shrink the tumor before liver transplant.    - Liver transplant.    - A clinical trial of a new treatment.

		                    Treatment Options in Clinical Trials
		                    Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood liver 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 child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.


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[User] What is (are) Filippi syndrome ?

[Assistant] Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.


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

[Assistant] The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies. Three strategies are currently under investigation: gene transfer to the brain in order to replace the mutated gene for the enzyme; metabolic therapy to provide a crucial missing metabolite (acetate); and enzyme therapy where the enzyme aspartoacylase is engineered to be able to enter the brain and is injected in the the blood stream. Encouraging results have been obtained using these strategies.


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[User] How many people are affected by atelosteogenesis type 2 ?

[Assistant] Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown.


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[User] How to prevent Kyasanur Forest Disease (KFD) ?

[Assistant] A vaccine does exist for KFD and is used in endemic areas of India. Additional preventative measures include insect repellents and wearing protective clothing in areas where ticks are endemic.


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[User] Is Mitochondrial complex II deficiency inherited ?

[Assistant] What causes mitochondrial complex II deficiency? Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 genes can all potentially cause complex II deficiency. Complex II deficiency is inherited in an autosomal recessive fashion. This means that a person must inherit a gene mutation from both their mother and father in order to develop complex II deficiency. People who have a single mutation are called carriers. Carriers of complex II deficiency may be at an increased risk for certain health problems, including for paragangliomas and/or pheochromocytomas.[8676]


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[User] What is (are) Sneddon syndrome ?

[Assistant] Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesions to develop within the central nervous system. This can lead to reduced mental capacity, memory loss and other neurological symptoms. The exact cause of Sneddon syndrome is unknown. Some familial cases have been described. It has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome.


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[User] Do you have information about Children's Page

[Assistant] Summary : Kids, this page is for you. Learn about everything from how the body works to what happens when you go to the hospital. There are quizzes, games and lots of cool web sites for you to explore. Have fun!


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[User] What is (are) Kidney Stones in Adults ?

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A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. A larger stone may get stuck along the urinary tract and can block the flow of urine, causing severe pain or bleeding.

Kidney stones are one of the most common disorders of the urinary tract. Each year in the United States, people make more than a million visits to health care providers and more than 300,000 people go to emergency rooms for kidney stone problems.1

Urolithiasis is the medical term used to describe stones occurring in the urinary tract. Other frequently used terms are urinary tract stone disease and nephrolithiasis. Terms that describe the location of the stone in the urinary tract are sometimes used. For example, a ureteral stoneor ureterolithiasisis a kidney stone found in the ureter.


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[User] What are the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease ?

[Assistant] What are the signs and symptoms of febrile ulceronecrotic Mucha-Habermann disease? Initial symptoms of FUMHD include red scaly skin legions (papules) that ulcerate, breakdown, form open sores, then a red-brown crust (i.e., PLEVA).  In FUMHD the legions suddenly progress to large, destructive ulcers and can be associated with extensive, painful loss of skin tissue. The skin lesions can become infected which may cause pus and a putrid odor. The rate of progression from PLEVA to FUMHD varies among reports but may be days to weeks.  Some cases go straight to FUMHD rather than progress from PLEVA. FUMHD is often associated with high fever (up to 104F) that may be persistant or come and go. Other symptoms may include feeling ill, sore throat, congestion, muscle soreness or pain, joint pain, diarrhea, central nervous system symptoms, abdominal pain, enlarged spleen, arthritis, megaloblastic anemia, interstitial pneumonitis (scarring or thickening of the lungs), lymphocytic (viral) myocarditis, and sepsis. FUMHD can become life threatening.


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[User] What is (are) Skin Cancer ?

[Assistant] Melanoma is the fastest growing and most invasive type of skin cancer. This cancer arises from overgrowth of melanocytes. Melanocytes are specialized skin cells that produce a pigment called melanin.


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[User] Is Leber congenital amaurosis inherited ?

[Assistant] Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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.  When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations and occur in people with no history of the disorder in their family.


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[User] What to do for What I need to know about Cirrhosis ?

[Assistant] - Cirrhosis is scarring of the liver. Scar tissue replaces healthy liver tissue.  - Some common causes of cirrhosis include heavy alcohol use, hepatitis infections, and nonalcoholic fatty liver disease.  - In the early stages of cirrhosis, you may have no symptoms. As the disease gets worse, cirrhosis can cause serious problems.  - Once you have cirrhosis, nothing can make all the scar tissue go away. But treatment can prevent cirrhosis from getting worse.  - If too much scar tissue forms and your liver fails, you will need a liver transplant.  - You can take steps to prevent cirrhosis or keep it from getting worse.


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[User] What causes Peripheral Arterial Disease (P.A.D.) ?

[Assistant] The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.


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[User] What causes Yellow nail syndrome ?

[Assistant] Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear.  There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages.  These reports have been used to suggest the possibility a genetic component to yellow nail syndrome.  However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition.  Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes.


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[User] Is Milroy disease inherited ?

[Assistant] Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in people with no history of the disorder in their family. About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop the features of Milroy disease.


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[User] What are the symptoms of Konigsmark Knox Hussels syndrome ?

[Assistant] What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels 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) Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How to diagnose Coronary Heart Disease ?

[Assistant]
Your doctor will diagnose coronary heart disease (CHD) based on your medical and family histories, your risk factors for CHD, a physical exam, and the results from tests and procedures.

No single test can diagnose CHD. If your doctor thinks you have CHD, he or she may recommend one or more of the following tests.

EKG (Electrocardiogram)

An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart.

An EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack.

Stress Testing

During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to raise your heart rate.

When your heart is working hard and beating fast, it needs more blood and oxygen. Plaque-narrowed arteries can't supply enough oxygen-rich blood to meet your heart's needs.

A stress test can show possible signs and symptoms of CHD, such as:

Abnormal changes in your heart rate or blood pressure

Shortness of breath or chest pain

Abnormal changes in your heart rhythm or your heart's electrical activity

If you can't exercise for as long as what is considered normal for someone your age, your heart may not be getting enough oxygen-rich blood. However, other factors also can prevent you from exercising long enough (for example, lung diseases, anemia, or poor general fitness).

As part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in your heart and how well your heart pumps blood when it beats.

Echocardiography

Echocardiography(echo) uses sound waves to create a moving picture of your heart. The picture shows the size and shape of your heart and how well your heart chambers and valves are working.

Echo also can show areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow.

Chest X Ray

A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels.

A chest x ray can reveal signs of heart failure, as well as lung disorders and other causes of symptoms not related to CHD.

Blood Tests

Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels might be a sign that you're at risk for CHD.

Coronary Angiography and Cardiac Catheterization

Your doctor may recommend coronary angiography (an-jee-OG-rah-fee) if other tests or factors show that you're likely to have CHD. This test uses dye and special x rays to show the insides of your coronary arteries.

To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-eh-ter-ih-ZA-shun).

A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream.

Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels.

Cardiac catheterization usually is done in a hospital. You're awake during the procedure. It usually causes little or no pain, although you may feel some soreness in the blood vessel where your doctor inserts the catheter.


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[User] What are the symptoms of Anemia ?

[Assistant]
The most common symptom of anemia is fatigue (feeling tired or weak). If you have anemia, you may find it hard to find the energy to do normal activities.

Other signs and symptoms of anemia include:

Shortness of breath

Dizziness

Headache

Coldness in the hands and feet

Pale skin

Chest pain

These signs and symptoms can occur because your heart has to work harder to pump oxygen-rich blood through your body.

Mild to moderate anemia may cause very mild symptoms or none at all.

Complications of Anemia

Some people who have anemia may have arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. Over time, arrhythmias can damage your heart and possibly lead to heart failure.

Anemia also can damage other organs in your body because your blood can't get enough oxygen to them.

Anemia can weaken people who have cancer or HIV/AIDS. This can make their treatments not work as well.

Anemia also can cause many other health problems. People who have kidney disease and anemia are more likely to have heart problems. With some types of anemia, too little fluid intake or too much loss of fluid in the blood and body can occur. Severe loss of fluid can be life threatening.


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[User] What are the treatments for Loin pain hematuria syndrome ?

[Assistant] How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intravenous pain relievers and control of nausea. Limited evidence suggests that drugs that inhibit angiotensin may reduce the frequency and severity of episodes of loin pain and severe hematuria. People with debilitating pain who do not respond to other therapies may be offered surgery (i.e. a nerve block, nephrectomy, kidney auto-transplantation); however, surgical treatment of LPHS is controversial as studies suggest that it has limited value for treating recurrent pain.


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[User] What causes Cold urticaria ?

[Assistant] What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis.


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[User] What is (are) Shwachman-Diamond syndrome ?

[Assistant] Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.  The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections (otitis media), and skin infections. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding.  People with Shwachman-Diamond syndrome have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders that affect blood cell production, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML).  Shwachman-Diamond syndrome also affects the pancreas, which is an organ that plays an essential role in digestion. One of this organ's main functions is to produce enzymes that help break down and use the nutrients from food. In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. This condition is known as pancreatic insufficiency. Infants with pancreatic insufficiency have trouble digesting food and absorbing nutrients that are needed for growth. As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome.  Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder.  The complications of this condition can affect several other parts of the body, including the liver, heart, endocrine system (which produces hormones), eyes, teeth, and skin. Additionally, studies suggest that Shwachman-Diamond syndrome may be associated with delayed speech and the delayed development of motor skills such as sitting, standing, and walking.


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[User] What is (are) Kennedy's Disease ?

[Assistant]
Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus.

Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.


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[User] Is Rheumatic Fever inherited ?

[Assistant] Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. Some studies suggest that differences in the expression of various genes involved in the immune response may contribute to rheumatic fever susceptibility.


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[User] What is (are) Holes in the Heart ?

[Assistant]
Holes in the heart are simple congenital (kon-JEN-ih-tal) heart defects. Congenital heart defects are problems with the heart's structure that are present at birth. These defects change the normal flow of blood through the heart.

The heart has two sides, separated by an inner wall called the septum. With each heartbeat, the right side of the heart receives oxygen-poor blood from the body and pumps it to the lungs. The left side of the heart receives oxygen-rich blood from the lungs and pumps it to the body.

The septum prevents mixing of blood between the two sides of the heart. However, some babies are born with holes in the upper or lower septum.

A hole in the septum between the heart's two upper chambers is called an atrial septal defect (ASD). A hole in the septum between the heart's two lower chambers is called a ventricular septal defect (VSD).

ASDs and VSDs allow blood to pass from the left side of the heart to the right side. Thus, oxygen-rich blood mixes with oxygen-poor blood. As a result, some oxygen-rich blood is pumped to the lungs instead of the body.

Over the past few decades, the diagnosis and treatment of ASDs and VSDs have greatly improved. Children who have simple congenital heart defects can survive to adulthood. They can live normal, active lives because their heart defects close on their own or have been repaired.


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[User] Who is at risk for Ovarian, Fallopian Tube, and Primary Peritoneal Cancer? ?

[Assistant]
Different factors increase or decrease the risk of getting ovarian, fallopian tube, and primary peritoneal cancer.
	                    	Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor.   For information about risk factors and protective factors for ovarian cancer, see the Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention summary.   Talk to your doctor about your risk of ovarian cancer.

		                    Screening tests have risks.
		                    Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to talk about the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer.

		                    The risks of ovarian, fallopian tube, and primary peritoneal cancer screening tests include the following:
		                    Finding ovarian, fallopian tube, and primary peritoneal cancer may not improve health or help a woman live longer.    Screening may not improve your health or help you live longer if you have advanced ovarian cancer or if it has already spread to other places in your body.        False-negative test results can occur.    Screening test results may appear to be normal even though ovarian cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms.       False-positive test results can occur.     Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests (such as a laparoscopy or a laparotomy to see if cancer is present), which also have risks. Problems caused by tests used to diagnose ovarian cancer include infection, blood loss, bowel injury, and heart and blood vessel problems. A false-positive test result can also lead to an unneeded oophorectomy (removal of one or both ovaries).


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[User] What to do for Childhood Nephrotic Syndrome ?

[Assistant]
Children who have nephrotic syndrome may need to make changes to their diet, such as

- limiting the amount of sodium, often from salt, they take in each day  - reducing the amount of liquids they drink each day  - eating a diet low in saturated fat and cholesterol to help control elevated cholesterol levels

Parents or caretakers should talk with the childs health care provider before making any changes to the childs diet.

More information is provided in the NIDDK health topic, Nutrition for Chronic Kidney Disease in Children.


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

[Assistant] Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain.  Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.


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[User] What is (are) Balance Problems ?

[Assistant] You can help your doctor make a diagnosis by writing down key information about your dizziness or balance problem beforehand and giving the information to your doctor during the visit. Write down answers to these questions for your doctor: - How would you describe your dizziness or balance problem?  - If the room is spinning around you, which ways does it appear to turn?   - How often do you have dizziness or balance problems?  - Have you ever fallen?   - If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can.  - What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids.   - What is the name of the medication?   - How much medication do you take each day?   - What times of the day do you take the medication?  - What is the health condition for which you take the medication? How would you describe your dizziness or balance problem? If the room is spinning around you, which ways does it appear to turn? How often do you have dizziness or balance problems? Have you ever fallen? If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can. What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids. What is the name of the medication? How much medication do you take each day? What times of the day do you take the medication? What is the health condition for which you take the medication? See a video on describing symptoms and health concerns during a doctor visit.


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[User] What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ?

[Assistant] How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications.


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[User] What causes Intrahepatic cholestasis of pregnancy ?

[Assistant] What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include: A personal or family history of cholestasis of pregnancy A history of liver disease A multiple gestation pregnancy (twins, triplets, etc) Approximately 15% of women with ICP have a mutation in either the ABCB11 orABCB4 gene. Mutations within these genes increase the likelihood that a woman will develop ICP. Mutations within the ABCB11 and ABCB4 gene(s) are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations within the gene. A person with a mutation in either theABCB11 or ABCB4 gene has a 50% chance with each pregnancy of passing along the altered gene to his or her child.


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[User] Who is at risk for Sudden Cardiac Arrest? ?

[Assistant]
The risk of sudden cardiac arrest (SCA) increases:

With age

If you are a man. Men are more likely than women to have SCA.

Some studies show that blacksparticularly those with underlying conditions such as diabetes, high blood pressure, heart failure, and chronic kidney disease or certain cardiac findings on tests such as an electrocardiogramhave a higher risk forSCA.

Major Risk Factor

The major risk factor for SCA is coronary heart disease. Most people who have SCA have some degree of coronary heart disease; however, many people may not know that they have coronary heart disease until SCA occurs. Usually their coronary heart disease is silentthat is, it has no signs or symptoms. Because of this, doctors and nurses have not detected it.

Many people who have SCA also have silent, or undiagnosed, heart attacks before sudden cardiac arrest happens. These people have no clear signs of heart attack, and they dont even realize that theyve had one. Read more about coronary heart disease risk factors.

Other Risk Factors

Other risk factors for SCA include:

A personal history of arrhythmias

A personal or family history of SCA or inherited disorders that make you prone toarrhythmias

Drug or alcohol abuse

Heart attack

Heart failure


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[User] What are the symptoms of Muscular dystrophy, congenital, merosin-positive ?

[Assistant] What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Decreased fetal movement - Facial palsy - Flexion contracture - Increased variability in muscle fiber diameter - Joint laxity - Mildly elevated creatine phosphokinase - Myopathy - Neck muscle weakness - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Scoliosis - Shoulder girdle muscle weakness - Variable expressivity - 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 are the treatments for Alexander Disease ?

[Assistant] There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.


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[User] What are the symptoms of Dominant dystrophic epidermolysis bullosa ?

[Assistant] What are the signs and symptoms of Dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is consivered to be a more mild form of dystrophic epidermolysis bullosa (DEB). Blistering is often limited to the hands, feet, knees, and elbows. Blistering may be relatively benign, but still heals with scarring and milia. Dystrophic nails, especially toenails, are common and loss of nails may occur. In the mildest forms, dystrophic nails may be the only characteristic noted. Blistering in DDEB often improves somewhat with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Dominant dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Cheilitis 90% Carious teeth 50% Hypopigmented skin patches 50% Abnormal renal physiology 7.5% Abnormality of the urethra 7.5% Anemia 7.5% Corneal erosion 7.5% Feeding difficulties in infancy 7.5% Tracheoesophageal fistula 7.5% Atrophic scars - Autosomal dominant inheritance - Congenital onset - Milia - Nail dysplasia - Nail dystrophy - 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 causes Adenoameloblastoma ?

[Assistant] What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. Adenoameloblastomas in the front upper jaw are often associated with an impacted tooth.


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[User] What causes Buerger disease ?

[Assistant] What causes Buerger disease? Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisioning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extracts into their skin. There may be a genetic component to susceptibility to Buerger disease as well. It is possible that these genetic influences account for the higher prevalence of Buerger disease in people of Israeli, Indian subcontinent, and Japanese descent. Certain HLA (human leukocyte antigen) haplotypes have also been found in association with Buerger disease.


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[User] What is (are) Cystic Fibrosis ?

[Assistant]
Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat.

"Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the diseaseone from each parent. The parents likely don't have the disease themselves.

CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

Overview

Mucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected.

If you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.)

The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs.

The thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine.

These enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort.

CF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death.

If you or your child has CF, you're also at higher risk for diabetes or two bone-thinning conditions called osteoporosis (OS-te-o-po-RO-sis) and osteopenia (OS-te-o-PEE-nee-uh).

CF also causes infertility in men, and the disease can make it harder for women to get pregnant. (The term "infertility" refers to the inability to have children.)

Outlook

The symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years.

The symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often.

Lung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF.

As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer.

Early treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments.

Your doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.


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[User] What are the symptoms of Optic atrophy polyneuropathy deafness ?

[Assistant] What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. 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) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) High Blood Cholesterol ?

[Assistant] The coronary arteries bring blood to your heart. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease.


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[User] What are the treatments for cholesteryl ester storage disease ?

[Assistant] These resources address the diagnosis or management of cholesteryl ester storage disease:  - Genetic Testing Registry: Lysosomal acid lipase deficiency  - MedlinePlus Encyclopedia: Atherosclerosis  - MedlinePlus Encyclopedia: Cirrhosis   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 Jones syndrome ?

[Assistant] How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.


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[User] What are the symptoms of Unverricht-Lundborg disease ?

[Assistant] What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg 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) Absence seizures - Ataxia - Autosomal recessive inheritance - Dysarthria - Generalized tonic-clonic seizures - Mental deterioration - Myoclonus - 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 are the symptoms of Burn-Mckeown syndrome ?

[Assistant] What are the signs and symptoms of Burn-Mckeown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Burn-Mckeown 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) Blepharophimosis 90% Choanal atresia 90% Hypertelorism 90% Abnormality of the cardiac septa 50% Prominent nasal bridge 50% Abnormality of the palate 7.5% Short nose 7.5% Short stature 7.5% 2-3 toe syndactyly - Abnormality of metabolism/homeostasis - Atria septal defect - Autosomal recessive inheritance - Bifid uvula - Bilateral choanal atresia/stenosis - Cleft palate - Cleft upper lip - Conductive hearing impairment - Feeding difficulties in infancy - Hypomimic face - Lower eyelid coloboma - Mandibular prognathia - Narrow mouth - Preauricular skin tag - Protruding ear - Renal hypoplasia - Short palpebral fissure - Short philtrum - Thin vermilion border - Underdeveloped nasal alae - Ventricular septal defect - 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 are the symptoms of X-linked creatine deficiency ?

[Assistant] What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. 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 metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[Assistant] WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals.  The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 11. WAGR syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes. The PAX6 and WT1 genes are always deleted in people with the typical signs and symptoms of this disorder. Because changes in the PAX6 gene can affect eye development, researchers think that the loss of the PAX6 gene is responsible for the characteristic eye features of WAGR syndrome. The PAX6 gene may also affect brain development. Wilms tumor and genitourinary abnormalities are often the result of mutations in the WT1 gene, so deletion of the WT1 gene is very likely the cause of these features in WAGR syndrome.  In people with WAGRO syndrome, the chromosome 11 deletion includes an additional gene, BDNF. This gene is active (expressed) in the brain and plays a role in the survival of nerve cells (neurons). The protein produced from the BDNF gene is thought to be involved in the management of eating, drinking, and body weight. Loss of the BDNF gene is likely responsible for childhood-onset obesity in people with WAGRO syndrome. People with WAGRO syndrome may be at greater risk of neurological problems such as intellectual disability and autism than those with WAGR syndrome. It is unclear whether this increased risk is due to the loss of the BDNF gene or other nearby genes.  Research is ongoing to identify additional genes deleted in people with WAGR syndrome and to determine how their loss leads to the other features of the disorder.


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[User] What is (are) cerebrotendinous xanthomatosis ?

[Assistant] Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone).  Other features of cerebrotendinous xanthomatosis include chronic diarrhea during infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to fracture, and neurological problems in adulthood, such as dementia, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria). The neurological symptoms are thought to be caused by an accumulation of fats and an increasing number of xanthomas in the brain. Xanthomas can also accumulate in the fatty substance that insulates and protects nerves (myelin), disrupting nerve signaling in the brain. Disorders that involve the destruction of myelin are known as leukodystrophies. Degeneration (atrophy) of brain tissue caused by excess lipid deposits also contributes to the neurological problems.  Xanthomas in the tendons (most commonly in the Achilles tendon, which connects the heel of the foot to the calf muscles) begin to form in early adulthood. Tendon xanthomas may cause discomfort and interfere with tendon flexibility. People with cerebrotendinous xanthomatosis are also at an increased risk of developing cardiovascular disease. If untreated, the signs and symptoms related to the accumulation of lipids throughout the body worsen over time; however, the course of this condition varies greatly among those who are affected.


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[User] How many people are affected by metachromatic leukodystrophy ?

[Assistant] Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation, and 1 in 8,000 among Arab groups in Israel.


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[User] How many people are affected by laryngo-onycho-cutaneous syndrome ?

[Assistant] LOC syndrome is a rare disorder that primarily affects families of Punjabi background from India and Pakistan, although the condition has also been reported in one family from Iran.


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[User] What are the symptoms of Marshall-Smith syndrome ?

[Assistant] What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia. There are often problems with structures in the respiratory tract (such as the larynx and trachea) and this can lead to difficulty with breathing and frequent infections. Pneumonia is common. Severe feeding difficulties may also result. X-rays show advanced bone age and short and conical phalanges (finger and/or toes bones). The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall-Smith 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) Accelerated skeletal maturation 90% Anteverted nares 90% Bowing of the long bones 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Hyperextensible skin 90% Joint hypermobility 90% Proptosis 90% Respiratory insufficiency 90% Skeletal dysplasia 90% Slender long bone 90% Thin skin 90% Abnormality of the tongue 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Hypertelorism 50% Hypertrichosis 50% Laryngomalacia 50% Open mouth 50% Recurrent fractures 50% Reduced bone mineral density 50% Scoliosis 50% Short nose 50% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Craniosynostosis 7.5% Gingival overgrowth 7.5% Optic atrophy 7.5% Ventriculomegaly 7.5% Agenesis of corpus callosum - Atlantoaxial dislocation - Atria septal defect - Autosomal dominant inheritance - Bullet-shaped middle phalanges of the hand - Cerebral atrophy - Choanal stenosis - Death in childhood - Decreased body weight - Distal widening of metacarpals - Failure to thrive - Glossoptosis - Hearing impairment - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular dentition - Large sternal ossification centers - Low-set ears - Macrogyria - Malar flattening - Motor delay - Muscular hypotonia - Obstructive sleep apnea - Omphalocele - Overfolded helix - Patent ductus arteriosus - Pectus excavatum - Prominence of the premaxilla - Prominent forehead - Pulmonary hypertension - Recurrent aspiration pneumonia - Retrognathia - Shallow orbits - Short distal phalanx of finger - Short mandibular rami - Short philtrum - Short sternum - Sporadic - Synophrys - Tall stature - Thick eyebrow - Umbilical hernia - 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 are the genetic changes related to isolated lissencephaly sequence ?

[Assistant] Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ILS cases; DCX gene mutations cause about 10 percent of cases; and TUBA1A gene mutations cause a small percentage of ILS. These genes provide instructions for making proteins that are involved in the movement (migration) of nerve cells (neurons) to their proper locations in the developing brain. Neuronal migration is dependent on cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving the neuron. The protein produced from the TUBA1A gene is a component of microtubules. The proteins produced from the DCX and PAFAH1B1 genes promote neuronal migration by interacting with microtubules.  Mutations in any of these three genes impair the function of microtubules and the normal migration of neurons during fetal development. As a result, the layers of the cerebral cortex are disorganized and the normal folds and grooves of the brain do not form. This impairment of brain development leads to the smooth brain appearance and the resulting neurological problems characteristic of ILS.  Some individuals with ILS do not have an identified mutation in any of these three genes; the cause of the condition in these individuals may be unidentified mutations in other genes that affect neuronal migration or other unknown factors.


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[User] What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ?

[Assistant] What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. 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 eyelashes 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% EEG abnormality 90% Gingivitis 90% Memory impairment 90% Seizures 50% Hearing impairment 7.5% Hydrocephalus 7.5% Melanocytic nevus 7.5% Alopecia universalis - Autosomal dominant inheritance - Congenital alopecia totalis - Intellectual disability, mild - Periodontitis - 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) Nutrition for Advanced Chronic Kidney Disease in Adults ?

[Assistant]
The NIDDK Nutrition for Chronic Kidney Disease Series includes three fact sheets:

- Nutrition for Early Chronic Kidney Disease in Adults  - Nutrition for Advanced Chronic Kidney Disease in Adults  - Nutrition for Chronic Kidney Disease in Children


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[User] What are the genetic changes related to Lafora progressive myoclonus epilepsy ?

[Assistant] Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain.  Studies suggest that laforin and malin work together and may have several functions. One of these is to help regulate the production of a complex sugar called glycogen, which is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel. Laforin and malin may prevent a potentially damaging buildup of glycogen in tissues that do not normally store this molecule, such as those of the nervous system.  Researchers have discovered that people with Lafora progressive myoclonus epilepsy have distinctive clumps called Lafora bodies within their cells. Lafora bodies are made up of an abnormal form of glycogen that cannot be broken down and used for fuel. Instead, it builds up to form clumps that can damage cells. Neurons appear to be particularly vulnerable to this type of damage. Although Lafora bodies are found in many of the body's tissues, the signs and symptoms of Lafora progressive myoclonus epilepsy are limited to the nervous system.  Mutations in the EPM2A gene prevent cells from making functional laforin, while NHLRC1 gene mutations prevent the production of functional malin. It is unclear how a loss of either of these proteins leads to the formation of Lafora bodies. However, a loss of laforin or malin ultimately results in the death of neurons, which interferes with the brain's normal functions. The condition tends to progress more slowly in some people with NHLRC1 gene mutations than in those with EPM2A gene mutations.  Mutations in the EPM2A and NHLRC1 genes account for 80 percent to 90 percent of all cases of Lafora progressive myoclonus epilepsy. In the remaining cases, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie this disease.


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[User] Is PMM2-congenital disorder of glycosylation 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) Intraocular (Uveal) Melanoma ?

[Assistant]
Key Points
                    - Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye.    - Being older and having fair skin may increase the risk of intraocular melanoma.    - Signs of intraocular melanoma include blurred vision or a dark spot on the iris.     - Tests that examine the eye are used to help detect (find) and diagnose intraocular melanoma.    - A biopsy of the tumor is rarely needed to diagnose intraocular melanoma.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye.
                    Intraocular melanoma begins in the middle of three layers of the wall of the eye. The outer layer includes the white sclera (the "white of the eye") and the clear cornea at the front of the eye. The inner layer has a lining of nerve tissue, called the retina, which senses light and sends images along the optic nerve to the brain.   The middle layer, where intraocular melanoma forms, is called the uvea or uveal tract, and has three main parts:         -  Iris  The iris is the colored area at the front of the eye (the "eye color"). It can be seen through the clear cornea. The pupil is in the center of the iris and it changes size to let more or less light into the eye. Intraocular melanoma of the iris is usually a small tumor that grows slowly and rarely spreads to other parts of the body.    -  Ciliary body  The ciliary body is a ring of tissue with muscle fibers that change the size of the pupil and the shape of the lens. It is found behind the iris. Changes in the shape of the lens help the eye focus. The ciliary body also makes the clear fluid that fills the space between the cornea and the iris. Intraocular melanoma of the ciliary body is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris.      -  Choroid  The choroid is a layer of blood vessels that bring oxygen and nutrients to the eye. Most intraocular melanomas begin in the choroid. Intraocular melanoma of the choroid is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris.          Intraocular melanoma is a rare cancer that forms from cells that make melanin in the iris, ciliary body, and choroid. It is the most common eye cancer in adults.


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[User] Is triosephosphate isomerase deficiency 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 are the treatments for Gorham's disease ?

[Assistant] How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease.  All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.


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[User] What causes Trisomy 18 ?

[Assistant] What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people with trisomy 18 have 'mosaic trisomy 18' (when there is an extra copy of the chromosome in only some of the body's cells). The severity of mosaic trisomy 18 depends on the number and locations of cells with the extra copy. Very rarely, an extra piece of chromosome 18 is attached to another chromosome; this is called translocation trisomy 18, or partial trisomy 18. If only part of the long (q) arm of chromosome 18 is present in 3 copies, the features may be less severe than in people with full trisomy 18.


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[User] What is (are) Kaposi sarcoma ?

[Assistant] Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing. Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS). Options for treatment may include local therapy, radiation therapy, chemotherapy and biologic therapy (immunotherapy). The main aim is to restore immunity.


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

[Assistant] Mutations in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in development before birth. In particular, this protein appears to play a role in the normal formation of structures in the face, heart, and limbs.  TFAP2B mutations alter the structure of transcription factor AP-2. Some of these mutations prevent the protein from binding to DNA, while other mutations render it unable to regulate the activity of other genes. A loss of this protein's function disrupts the normal development of several parts of the body before birth, resulting in the major features of Char syndrome.


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[User] Is 2-hydroxyglutaric aciduria inherited ?

[Assistant] D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, 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.  D-2-HGA type II is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. The disorder typically results from a new mutation in the IDH2 gene and occurs in people with no history of the condition in their family.


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[User] What are the treatments for Sjgren-Larsson syndrome ?

[Assistant] These resources address the diagnosis or management of Sjgren-Larsson syndrome:  - Genetic Testing Registry: Sjgren-Larsson 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] What are the treatments for Stroke ?

[Assistant] With stroke, treatment depends on the stage of the disease. There are three treatment stages for stroke: prevention, therapy immediately after stroke, and rehabilitation after stroke. Stroke treatments include medications, surgery, and rehabilitation.


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[User] What are the treatments for Hypersomnia ?

[Assistant] Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social activities that delay bed time) and diet may offer some relief. Patients should avoid alcohol and caffeine.