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

[User] What is (are) Cerebral Arteriosclerosis ?

[Assistant]
Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision.

Cerebral arteriosclerosis can cause serious health problems. If the walls of an artery are too thick, or a blood clot becomes caught in the narrow passage, blood flow to the brain can become blocked and cause an ischemic stroke. When the thickening and hardening is uneven, arterial walls can develop bulges (called aneurysms). If a bulge ruptures, bleeding in the brain can cause a hemorrhagic stroke. Both types of stroke can be fatal.

Cerebral arteriosclerosis is also related to a condition known as vascular dementia, in which small, symptom-free strokes cause cumulative damage and death to neurons (nerve cells) in the brain. Personality changes in the elderly, such as apathy, weeping, transient befuddlement, or irritability, might indicate that cerebral arteriosclerosis is present in the brain. Computer tomography (CT) and magnetic resonance imaging (MRI) of the brain can help reveal the presence of cerebral arteriosclerosis before ischemic strokes, hemorrhagic strokes, or vascular dementia develop.


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[User] What is (are) 3-methylglutaconyl-CoA hydratase deficiency ?

[Assistant] 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.  In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy), which likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).  Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.  All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid.


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[User] What are the treatments for Sandhoff Disease ?

[Assistant] There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.


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

[User] What are the symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia ?

[Assistant] What are the signs and symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mastocytosis cutaneous with short stature conductive hearing loss and microtia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the outer ear 90% Abnormality of the palate 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Hypermelanotic macule 90% Mastocytosis 90% Microcephaly 90% Muscular hypotonia 90% Optic atrophy 90% Proptosis 90% Pruritus 90% Seizures 90% Short stature 90% Thick lower lip vermilion 90% Triangular face 90% Upslanted palpebral fissure 90% Urticaria 90% Abnormal nasal morphology 7.5% Lower limb asymmetry 7.5% Prominent supraorbital ridges 7.5% Scoliosis 7.5% Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Cutaneous mastocytosis - Feeding difficulties - High palate - Intellectual disability - Microtia - Underdeveloped nasal alae - Wide nasal bridge - 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) Lipedema ?

[Assistant] Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful.  It is a common condition affecting up to 11% of women  The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs. Hormones are also thought to play a role.


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[User] What causes Craniometaphyseal dysplasia, autosomal recessive type ?

[Assistant] What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling. The exact mechanism involved is yet to be determined.


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[User] What are the symptoms of Familial juvenile hyperuricaemic nephropathy ?

[Assistant] What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gout - Juvenile onset - Nephropathy - Progressive - Renal insufficiency - Tubular atrophy - 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) Spina bifida occulta ?

[Assistant] Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%.


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[User] Is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia inherited ?

[Assistant] This condition 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 most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.


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[User] What is (are) Heart Failure ?

[Assistant] Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or "bad," cholesterol depends on how many other risk factors you have. Here are recommended LDL cholesterol goals. - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL.   - If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL.  - If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. The goal for HDL, or "good," cholesterol is above 40 in men and above 50 in women. The goal for triglycerides, another fat in the blood, is below 150.


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[User] What is (are) Diabetic Foot ?

[Assistant] If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. Serious cases may even lead to amputation. Damage to the blood vessels can also mean that your feet do not get enough blood and oxygen. It is harder for your foot to heal, if you do get a sore or infection.    You can help avoid foot problems. First, control your blood sugar levels. Good foot hygiene is also crucial:       - Check your feet every day    - Wash your feet every day    - Keep the skin soft and smooth    - Smooth corns and calluses gently    - If you can see, reach, and feel your feet, trim your toenails regularly. If you cannot, ask a foot doctor (podiatrist) to trim them for you.    - Wear shoes and socks at all times    - Protect your feet from hot and cold    - Keep the blood flowing to your feet       NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] What is (are) Breast Cancer ?

[Assistant] How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. Breast cancer occurs when malignant tumors form in the breast tissue. Who Gets Breast Cancer?  Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. (Watch the video to learn more about breast cancer survival rates. To enlarge the videos appearing on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Men can get breast cancer too, although they account for only 1 percent of all reported cases. Read more about breast cancer in men.  When Breast Cancer Spreads When cancer grows in breast tissue and spreads outside the breast, cancer cells are often found in the lymph nodes under the arm. If the cancer has reached these nodes, it means that cancer cells may have spread, or metastasized, to other parts of the body. When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this "distant" disease.  Learn about different kinds of breast cancer. Breast Cancer is Not Contagious Breast cancer is not contagious. A woman cannot "catch" breast cancer from other women who have the disease. Also, breast cancer is not caused by an injury to the breast. Most women who develop breast cancer do not have any known risk factors or a history of the disease in their families. Treating and Surviving Breast Cancer  Today, more women are surviving breast cancer than ever before. Nearly three million women are breast cancer survivors. (Watch the video to hear a woman discuss surviving breast cancer.) There are several ways to treat breast cancer, but all treatments work best when the disease is found early. As a matter of fact, when it is caught in its earliest stage, 98.5 percent of women with the disease are alive five years later. Every day researchers are working to find new and better ways to detect and treat cancer. Many studies of new approaches for women with breast cancer are under way. With early detection, and prompt and appropriate treatment, the outlook for women with breast cancer can be positive. To learn more about what happens after treatment, see  Surviving Cancer.


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[User] What is (are) Freeman-Sheldon syndrome ?

[Assistant] Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."  People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an "H" or "V".  Affected individuals may have a number of abnormalities that affect the eyes. These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look in the same direction (strabismus).  Other facial features that may occur in Freeman-Sheldon syndrome include an unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in the roof of the mouth (high-arched palate). People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at the expected rate (failure to thrive), and respiratory complications that may be life-threatening. Speech problems are also common in this disorder. Some affected individuals have hearing loss.  Freeman-Sheldon syndrome is also characterized by joint deformities (contractures) that restrict movement. People with this disorder typically have multiple contractures in the hands and feet at birth (distal arthrogryposis). These contractures lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called "windmill vane hand"), and inward- and downward-turning feet (clubfoot). Affected individuals may also have a spine that curves to the side (scoliosis).  People with Freeman-Sheldon syndrome also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain. A particular type of muscle relaxant may also trigger the reaction. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly.  Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but approximately one-third have some degree of intellectual disability.


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[User] What are the symptoms of Ceroid lipofuscinosis neuronal 1 ?

[Assistant] What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Blindness - Cerebral atrophy - Decreased light- and dark-adapted electroretinogram amplitude - Depression - EEG abnormality - Flexion contracture - Hallucinations - Increased neuronal autofluorescent lipopigment - Intellectual disability - Irritability - Loss of speech - Macular degeneration - Muscular hypotonia - Myoclonus - Onset - Optic atrophy - Postnatal microcephaly - Progressive microcephaly - Progressive visual loss - Psychomotor deterioration - Retinal degeneration - Seizures - Sleep disturbance - Spasticity - Undetectable electroretinogram - 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) Infectious Arthritis ?

[Assistant] Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Infectious arthritis is an infection in the joint. The infection comes from a bacterial, viral, or fungal infection that spreads from another part of the body. Symptoms of infectious arthritis include       - Intense pain in the joint    - Joint redness and swelling    - Chills and fever    - Inability to move the area with the infected joint       One type of infectious arthritis is reactive arthritis. The reaction is to an infection somewhere else in your body. The joint is usually the knee, ankle, or toe. Sometimes, reactive arthritis is set off by an infection in the bladder, or in the urethra, which carries urine out of the body. In women, an infection in the vagina can cause the reaction. For both men and women, it can start with bacteria passed on during sex. Another form of reactive arthritis starts with eating food or handling something that has bacteria on it.    To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery.


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[User] What are the treatments for Giant congenital nevus ?

[Assistant] How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi are removed, the surrounding skin can often be pulled together with stitches. Larger nevi may need to be removed in several stages and full-thickness skin grafts may be needed to help the skin heal following surgery. Laser treatments may be used for superficial skin imperfections, including reducing pigment and hair, but cannot completely remove the nevus. Affected individuals should self-monitor and continue to have regular skin examinations to check for benign or malignant tumors. Early awareness will allow their physicians  to adjust treatment protocols  accordingly. Children are most likely to show neurological signs before primary school and can respond well to a range of symptomatic therapies.


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[User] What are the treatments for Lafora progressive myoclonus epilepsy ?

[Assistant] These resources address the diagnosis or management of Lafora progressive myoclonus epilepsy:  - Gene Review: Gene Review: Progressive Myoclonus Epilepsy, Lafora Type  - Genetic Testing Registry: Lafora disease  - MedlinePlus Encyclopedia: Epilepsy  - MedlinePlus Encyclopedia:Generalized Tonic-Clonic Seizure   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 protein S deficiency ?

[Assistant] These resources address the diagnosis or management of protein S deficiency:  - Genetic Testing Registry: Protein S deficiency  - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency  - MedlinePlus Encyclopedia: Necrosis  - MedlinePlus Encyclopedia: Protein S  - MedlinePlus Encyclopedia: Purpura   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 to do for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?

[Assistant]
Your eating, diet, and nutrition choices play an important role in preventing or delaying diabetes. Follow the suggestions below to reach and maintain a reasonable weight and make wise food choices most of the time. Remember that it can take time to change your habits and be patient with yourself. You can also get help from a dietitian or join a weight-loss program to support you while you reach your goals.

Reach and Maintain a Reasonable Body Weight

Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. Excess body weight can also cause high blood pressure. Every pound you lose lowers your risk of getting diabetes.

In addition to weight, the location of excess fat on the body can be important. A waist measurement of 40 inches or more for men and 35 inches or more for women is linked to insulin resistance and increases a persons risk for type 2 diabetes. This is true even if your BMI falls within the normal range.

Find Your BMI

The BMI is a measure of body weight relative to height. The BMI can help you find out whether you are normal weight, overweight, or obese. Use the table on pages 24 and 25 to find your BMI.

- Find your height in the left-hand column.  - Move across in the same row to the number closest to your weight.  - The number at the top of that column is your BMI. Check the word above your BMI to see whether you are normal weight, overweight, or obese.

The BMI has certain limitations. The BMI may overestimate body fat in athletes and others who have a muscular build and underestimate body fat in older adults and others who have lost muscle.

The BMI for children and teens must be determined based on age, height, weight, and sex. The Centers for Disease Control and Prevention (CDC) has information about BMI in children and teens, including a BMI calculator, at www.cdc.gov/nccdphp/dnpa/bmi. The CDC website also has a BMI calculator for adults. A BMI calculator from the NIH is available at www.nhlbi.nih.gov/health/educational/lose_wt/BMI/bmicalc.htm.

The NIH also has a free smartphone app for calculating BMI. You can search My BMI Calculator on your phone to find the app. The app also provides links to information about steps you can take to bring your BMI into a healthy range.


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

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease. Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.


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[User] What are the symptoms of Gastrointestinal Carcinoid Tumors ?

[Assistant] Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages.Signs and symptoms may be caused by the growth of the tumor and/or the hormones the tumor makes. Some tumors, especially tumors of the stomach or appendix, may not cause signs or symptoms. Carcinoid tumors are often found during tests or treatments for other conditions.    Carcinoid tumors in the small intestine (duodenum, jejunum, and ileum), colon, and rectum sometimes cause signs or symptoms as they grow or because of the hormones they make. Other conditions may cause the same signs or symptoms. Check with your doctor if you have any of the following:         -  Duodenum  Signs and symptoms of GI carcinoid tumors in the duodenum (first part of the small intestine, that connects to the stomach) may include the following:                  -  Abdominal pain.       -  Constipation.       -  Diarrhea.       - Change in stool color.       -  Nausea.       -  Vomiting.       -  Jaundice (yellowing of the skin and whites of the eyes).       - Heartburn.                -  Jejunum and ileum  Signs and symptoms of GI carcinoid tumors in the jejunum (middle part of the small intestine) and ileum (last part of the small intestine, that connects to the colon) may include the following:                  -  Abdominal pain.       - Weight loss for no known reason.       - Feeling very tired.       - Feeling bloated       -  Diarrhea.       -  Nausea.       - Vomiting.                -  Colon  Signs and symptoms of GI carcinoid tumors in the colon may include the following:                  - Abdominal pain.       - Weight loss for no known reason.                -  Rectum  Signs and symptoms of GI carcinoid tumors in the rectum may include the following:                  -  Blood in the stool.       - Pain in the rectum.       -  Constipation.


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[User] How many people are affected by mitochondrial membrane protein-associated neurodegeneration ?

[Assistant] MPAN is a rare condition that is estimated to affect less than 1 in 1 million people.


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

[User] what research (or clinical trials) is being done for Benign Essential Blepharospasm ?

[Assistant] The NINDS supports a broad program of research on disorders of the nervous system, including BEB. Much of this research is aimed at increasing understanding of these disorders and finding ways to prevent, treat, and cure them.


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[User] Is Fatal familial insomnia inherited ?

[Assistant] How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) 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 in the gene. These cases occur in people with no history of the disorder in their family. A person with FFI has a 50% chance with each pregnancy of passing along the altered gene to his or her child.


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[User] Is hereditary leiomyomatosis and renal cell cancer inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.


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[User] What are the symptoms of Pulmonary Embolism ?

[Assistant]
Major Signs and Symptoms

Signs and symptoms of pulmonary embolism (PE) include unexplained shortness of breath, problems breathing, chest pain, coughing, or coughing up blood. An arrhythmia (irregular heartbeat) also may suggest that you have PE.

Sometimes the only signs and symptoms are related to deep vein thrombosis (DVT). These include swelling of the leg or along a vein in the leg, pain or tenderness in the leg, a feeling of increased warmth in the area of the leg that's swollen or tender, and red or discolored skin on the affected leg.

See your doctor right away if you have any signs or symptoms of PE or DVT. It's also possible to have PE and not have any signs or symptoms.

Other Signs and Symptoms

Some people who have PE have feelings of anxiety or dread, light-headedness or fainting, rapid breathing, sweating, or an increased heart rate.


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[User] What causes Disseminated Intravascular Coagulation ?

[Assistant]
Some diseases and conditions can disrupt the body's normal blood clotting process and lead to disseminated intravascular coagulation (DIC). These diseases and conditions include:

Sepsis (an infection in the bloodstream)

Surgery and trauma

Cancer

Serious complications of pregnancy and childbirth

Examples of less common causes of DIC are bites from poisonous snakes (such as rattlesnakes and other vipers), frostbite, and burns.

The two types of DIC are acute and chronic. Acute DIC begins with clotting in the small blood vessels and quickly leads to serious bleeding. Chronic DIC causes blood clotting, but it usually doesn't lead to bleeding. Cancer is the most common cause of chronic DIC.

Similar Clotting Conditions

Two other conditions cause blood clotting in the small blood vessels. However, their causes and treatments differ from those of DIC.

These conditions are thrombotic thrombocytopenic purpura (throm-BOT-ik throm-bo-cy-toe-PEE-nick PURR-purr-ah), or TTP, and hemolytic-uremic syndrome (HUS). HUS is more common in children than adults. It's also more likely to cause kidney damage than TTP.


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[User] What is (are) Dizziness and Vertigo ?

[Assistant] When you're dizzy, you may feel lightheaded or lose your balance. If you feel that the room is spinning, you have vertigo.    A sudden drop in blood pressure or being dehydrated can make you dizzy. Many people feel lightheaded if they get up too quickly from sitting or lying down.    Dizziness usually gets better by itself or is easily treated. However, it can be a symptom of other disorders. Medicines may cause dizziness, or problems with your ear. Motion sickness can also make you dizzy. There are many other causes.    If you are dizzy often, you should see your health care provider to find the cause.


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[User] What are the treatments for supravalvular aortic stenosis ?

[Assistant] These resources address the diagnosis or management of supravalvular aortic stenosis:  - Children's Hospital of Philadelphia  - Genetic Testing Registry: Supravalvar aortic stenosis  - Monroe Carell Jr. Children's Hospital at Vanderbilt   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 is (are) craniofacial microsomia ?

[Assistant] Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.  People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.  Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.  Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.


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[User] What are the treatments for dyserythropoietic anemia and thrombocytopenia ?

[Assistant] These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia:  - Gene Review: Gene Review: GATA1-Related X-Linked Cytopenia  - Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis   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 is (are) Skin Conditions ?

[Assistant] Your skin is your body's largest organ. It covers and protects your body. Your skin       - Holds body fluids in, preventing dehydration    - Keeps harmful microbes out, preventing infections    - Helps you feel things like heat, cold, and pain    - Keeps your body temperature even    - Makes vitamin D when the sun shines on it       Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases


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[User] What are the treatments for Hairy Cell Leukemia ?

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

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

                    Five types of standard treatment are used:
                    Watchful waiting     Watchful waiting is closely monitoring a patient's condition, without giving any treatment until signs or symptoms appear or change.       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). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Cladribine and pentostatin are anticancer drugs commonly used to treat hairy cell leukemia. These drugs may increase the risk of other types of cancer, especially Hodgkin lymphoma and non-Hodgkin lymphoma. Long-term follow up for second cancers is very important.       Biologic therapy     Biologic therapy is a cancer treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon alfa is a biologic agent commonly used to treat hairy cell leukemia.    See Drugs Approved for Hairy Cell Leukemia for more information.       Surgery      Splenectomy is a surgical procedure to remove the spleen.        Targeted therapy     Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy used to treat hairy cell leukemia.    Monoclonal antibody therapy uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells.    A monoclonal antibody called rituximab may be used for certain patients with hairy cell leukemia.    Other types of targeted therapies are being studied.

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

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

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

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

												            Treatment Options for Hairy Cell Leukemia

															                    Untreated Hairy Cell Leukemia
															                    If the patient's blood cell counts are not too low and there are no signs or symptoms, treatment may not be needed and the patient is carefully watched for changes in his or her condition. If blood cell counts become too low or if signs or symptoms appear, initial treatment may include the following:         -  Chemotherapy.    -  Splenectomy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

															                    Progressive Hairy Cell Leukemia
															                    Treatment for progressive hairy cell leukemia may include the following:         -  Chemotherapy.    -  Biologic therapy.    -  Splenectomy.    - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab).        Check the list of NCI-supported cancer clinical trials that are now accepting patients with progressive hairy cell leukemia, initial treatment. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

															                    Relapsed or Refractory Hairy Cell Leukemia
															                    Treatment of relapsed or refractory hairy cell leukemia may include the following:         -  Chemotherapy.    -  Biologic therapy.    -  Targeted therapy with a monoclonal antibody (rituximab).    -  High-dose chemotherapy.    - A clinical trial of a new biologic therapy.    - A clinical trial of a new targeted therapy.    - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab).        Check the list of NCI-supported cancer clinical trials that are now accepting patients with refractory hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.


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[User] What is (are) Autoimmune autonomic ganglionopathy ?

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


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[User] What are the symptoms of Achondrogenesis type 1A ?

[Assistant] What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. 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 bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Brachydactyly syndrome 50% Polyhydramnios 50% Recurrent fractures 50% Short toe 50% Umbilical hernia 50% Cystic hygroma 7.5% Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Broad clavicles - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-trunk short stature - Hypoplasia of the radius - Hypoplastic ischia - Hypoplastic scapulae - Protuberant abdomen - Short clavicles - Short ribs - Stillbirth - Unossified vertebral bodies - 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 Gamma heavy chain disease ?

[Assistant] How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using "gamma heavy chain disease [ti] AND treatment" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search.


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[User] What to do for Foodborne Illnesses ?

[Assistant]
The following steps may help relieve the symptoms of foodborne illnesses and prevent dehydration in adults:

- drinking plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes  - sipping small amounts of clear liquids or sucking on ice chips if vomiting is still a problem  - gradually reintroducing food, starting with bland, easy-to-digest foods such as rice, potatoes, toast or bread, cereal, lean meat, applesauce, and bananas  - avoiding fatty foods, sugary foods, dairy products, caffeine, and alcohol until recovery is complete

Infants and children present special concerns. Infants and children are likely to become dehydrated more quickly from diarrhea and vomiting because of their smaller body size. The following steps may help relieve symptoms and prevent dehydration in infants and children:

- giving oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte to prevent dehydration  - giving food as soon as the child is hungry  - giving infants breast milk or fullstrength formula, as usual, along with oral rehydration solutions

Older adults and adults with weak immune systems should also drink oral rehydration solutions to prevent dehydration.


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[User] What is (are) progressive familial intrahepatic cholestasis ?

[Assistant] Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.  Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).  There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.  In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.  The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.  Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.


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[User] What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ?

[Assistant] What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. 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) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Talonavicular coalition ?

[Assistant] What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clinodactyly of the 5th finger - Proximal/middle symphalangism of 5th finger - 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) mitochondrial trifunctional protein deficiency ?

[Assistant] Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).  Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy).  Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.


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[User] What is (are) Autoimmune Diseases ?

[Assistant] Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body.    No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases.    There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling.    The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.


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[User] What is (are) familial adenomatous polyposis ?

[Assistant] Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.  In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.  A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.


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[User] Is prostate cancer inherited ?

[Assistant] Many cases of prostate cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the prostate.  When prostate cancer is related to inherited gene changes, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1, BRCA2, and HOXB13 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. In other cases, the inheritance of prostate cancer risk is unclear. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.


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[User] What are the treatments for Todd's Paralysis ?

[Assistant] There is no treatment for Todd's paralysis. Individuals must rest as comfortably as possible until the paralysis disappears.


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[User] What are the symptoms of Graves' Disease ?

[Assistant]
People with Graves disease may have common symptoms of hyperthyroidism such as

- nervousness or irritability  - fatigue or muscle weakness  - heat intolerance  - trouble sleeping  - hand tremors  - rapid and irregular heartbeat  - frequent bowel movements or diarrhea  - weight loss  - goiter, which is an enlarged thyroid that may cause the neck to look swollen and can interfere with normal breathing and swallowing

A small number of people with Graves disease also experience thickening and reddening of the skin on their shins. This usually painless problem is called pretibial myxedema or Graves dermopathy.

In addition, the eyes of people with Graves disease may appear enlarged because their eyelids are retractedseem pulled back into the eye socketsand their eyes bulge out from the eye sockets. This condition is called Graves ophthalmopathy (GO).


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[User] How many people are affected by 21-hydroxylase deficiency ?

[Assistant] The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic and non-classic forms varies among different ethnic populations.  21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia.


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[User] How many people are affected by Senior-Lken syndrome ?

[Assistant] Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.


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[User] What is (are) Quitting Smoking for Older Adults ?

[Assistant] These quit smoking websites offer you free, accurate information and professional assistance to help support the immediate and long-term needs of people trying to quit smoking. The National Cancer Institute sponsors - Smokefree 60+.gov, a quit-smoking website for older adults  - Smokefree.gov   - SmokefreeWomen   - SmokefreeEspanol    -   SmokefreeVET  Smokefree 60+.gov, a quit-smoking website for older adults Smokefree.gov SmokefreeWomen SmokefreeEspanol   SmokefreeVET Other online resources are -   Be Tobacco Free , a website from the U.S. Department of Health and Human Services  -  A  Quit Guide from the Centers from Disease Control and Prevention (CDC).   Be Tobacco Free , a website from the U.S. Department of Health and Human Services A  Quit Guide from the Centers from Disease Control and Prevention (CDC). Most states also have quit-smoking websites that have resources, such as free supplies of nicotine replacement therapy, informational mailings, and more. Mobile tools can also help, especially when you're on the go. These include text messaging services and free apps. -  See SmokefreeTXT, a text messaging service   -  See QuitSTART and QuitGuide, free quit smoking apps  See SmokefreeTXT, a text messaging service  See QuitSTART and QuitGuide, free quit smoking apps


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[User] Do you have information about School Health

[Assistant] Summary : Your child spends more time at school than anywhere else except home. Schools can have a major effect on children's health. Schools can teach children about health, and promote healthy behaviors. Physical education classes give children a chance to get exercise.    Schools work to       - Prevent risky behaviors such as alcohol and tobacco use, or bullying    - Encourage healthy habits like exercise and healthy eating    - Deal with specific health problems in students, such as asthma, obesity and infectious diseases       The school building and environment should be a safe and healthy place for your child.


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[User] What are the symptoms of Cleft hand absent tibia ?

[Assistant] What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. 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) Split hand 90% Abnormality of the tibia 50% Limitation of joint mobility 50% Abnormality of the femur 7.5% Abnormality of the fibula 7.5% Abnormality of the ulna 7.5% Brachydactyly syndrome 7.5% Finger syndactyly 7.5% Omphalocele 7.5% Overfolded helix 7.5% Patellar aplasia 7.5% Popliteal pterygium 7.5% Postaxial hand polydactyly 7.5% Preaxial hand polydactyly 7.5% Absent forearm - Absent tibia - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cupped ear - Monodactyly (hands) - Short hallux - Split foot - 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 many people are affected by steatocystoma multiplex ?

[Assistant] Although the prevalence of steatocystoma multiplex is unknown, it appears to be rare.


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

[Assistant]
Key Points
                    - Avoiding risk factors and increasing protective factors may help prevent cancer.    - Being exposed to ultraviolet radiation is a risk factor for skin cancer.    - It is not known if the following lower the risk of nonmelanoma skin cancer:         - Sunscreen use and avoiding sun exposure     - Chemopreventive agents        - It is not known if the following lower the risk of melanoma:         - Sunscreen     - Counseling and protecting the skin from the sun        - Cancer prevention clinical trials are used to study ways to prevent cancer.    -  New ways to prevent skin cancer are being studied in clinical trials.

                    Avoiding risk factors and increasing protective factors may help prevent cancer.
                    Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer.

                    Being exposed to ultraviolet radiation is a risk factor for skin cancer.
                    Some studies suggest that being exposed to ultraviolet (UV) radiation and the sensitivity of a persons skin to UV radiation are risk factors for skin cancer. UV radiation is the name for the invisible rays that are part of the energy that comes from the sun. Sunlamps and tanning beds also give off UV radiation.   Risk factors for nonmelanoma and melanoma cancers are not the same.         -  Risk factors for nonmelanoma skin cancer:                  - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time.       - Having a fair complexion, which includes the following:                         - Fair skin that freckles and burns easily, does not tan, or tans poorly.         - Blue or green or other light-colored eyes.          - Red or blond hair.                       - Having actinic keratosis.        - Past treatment with radiation.       - Having a weakened immune system.       - Being exposed to arsenic.                -  Risk factors for melanoma skin cancer:                  - Having a fair complexion, which includes the following:                         - Fair skin that freckles and burns easily, does not tan, or tans poorly.          - Blue or green or other light-colored eyes.         - Red or blond hair.                      - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time.       - Having a history of many blistering sunburns, especially as a child or teenager.       - Having several large or many small moles.       - Having a family history of unusual moles (atypical nevus syndrome).       - Having a family or personal history of melanoma.        - Being white.

                    It is not known if the following lower the risk of nonmelanoma skin cancer:
                    Sunscreen use and avoiding sun exposure    It is not known if nonmelanoma skin cancer risk is decreased by staying out of the sun, using sunscreens, or wearing protective clothing when outdoors. This is because not enough studies have been done to prove this.    Sunscreen may help decrease the amount of UV radiation to the skin. One study found that wearing sunscreen can help prevent actinic keratoses, scaly patches of skin that sometimes become squamous cell carcinoma.     The harms of using sunscreen are likely to be small and include allergic reactions to skin creams and lower levels of vitamin D made in the skin because of less sun exposure.     It is also possible that when a person uses sunscreen to avoid sunburn they may spend too much time in the sun and be exposed to harmful UV radiation.    Although protecting the skin and eyes from the sun has not been proven to lower the chance of getting skin cancer, skin experts suggest the following:            -  Use sunscreen that protects against UV radiation.     -  Do not stay out in the sun for long periods of time, especially when the sun is at its strongest.     -  Wear long sleeve shirts, long pants, sun hats, and sunglasses, when outdoors.              Chemopreventive agents     Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of cancer. The following chemopreventive agents have been studied to find whether they lower the risk of nonmelanoma skin cancer:         Beta carotene      Studies of beta carotene (taken as a supplement in pills) have not shown that it prevents nonmelanoma skin cancer from forming or coming back.            Isotretinoin      High doses of isotretinoin have been shown to prevent new skin cancers in patients with xeroderma pigmentosum. However, isotretinoin has not been shown to prevent nonmelanoma skin cancers from coming back in patients previously treated for nonmelanoma skin cancers. Treatment with isotretinoin can cause serious side effects.            Selenium      Studies have shown that selenium (taken in brewer's yeast tablets) does not lower the risk of basal cell carcinoma, and may increase the risk of squamous cell carcinoma.            Celecoxib      A study of celecoxib in patients with actinic keratosis and a history of nonmelanoma skin cancer found those who took celecoxib had slightly lower rates of recurrent nonmelanoma skin cancers. Celecoxib may have serious side effects on the heart and blood vessels.             Alpha-difluoromethylornithine (DFMO)      A study of alpha-difluoromethylornithine (DFMO) in patients with a history of nonmelanoma skin cancer showed that those who took DFMO had lower rates of nonmelanoma skin cancers coming back than those who took a placebo. DFMO may cause hearing loss which is usually temporary.            Nicotinamide (vitamin B3)      Studies have shown that nicotinamide (vitamin B3) helps prevent new actinic keratoses lesions from forming in people who had four or fewer actinic lesions before taking nicotinamide. More studies are needed to find out if nicotinamide prevents nonmelanoma skin cancer from forming or coming back.

                    It is not known if the following lower the risk of melanoma:
                    Sunscreen    It has not been proven that using sunscreen to prevent sunburn can protect against melanoma caused by UV radiation. Other risk factors such as having skin that burns easily, having a large number of benign moles, or having atypical nevi may also play a role in whether melanoma forms.       Counseling and protecting the skin from the sun    It is not known if people who receive counseling or information about avoiding sun exposure make changes in their behavior to protect their skin from the sun.


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[User] What is the outlook for Oxygen Therapy ?

[Assistant]
During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away.

While you're in the hospital, your doctor will check on you to make sure you're getting the right amount of oxygen. Nurses or respiratory therapists also may assist with the oxygen therapy.

If you're having oxygen therapy at home, a home equipment provider will help you set up the oxygen therapy equipment at your house.

Trained staff will show you how to use and take care of the equipment. They'll supply the oxygen and teach you how to safely handle it.

Because oxygen poses a fire risk, you'll need to take certain safety steps. Oxygen isn't explosive, but it can worsen a fire. In the presence of oxygen, a small fire can quickly get out of control. Also, the cylinder that compressed oxygen gas comes in can explode if it's exposed to heat.

Your home equipment provider will give you a complete list of safety steps that you'll need to follow at home and in public. For example, while on oxygen, you should:

Never smoke or be around people who are smoking

Never use paint thinners, cleaning fluids, gasoline, aerosol sprays, and other flammable materials

Stay at least 5 feet away from gas stoves, candles, and other heat sources

When you're not using the oxygen, keep it in a large, airy room. Never store compressed oxygen gas cylinders and liquid oxygen containers in small, enclosed places, such as in closets, behind curtains, or under clothes.

Oxygen containers let off small amounts of oxygen. These small amounts can build up to harmful levels if they're allowed to escape into small spaces.


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[User] What to do for Vesicoureteral Reflux ?

[Assistant] - Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder to the upper urinary tract.  - VUR is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR.  - In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI).  - When a child with VUR gets a UTI, bacteria can move into the kidney and lead to scarring. Scarring of the kidney can be associated with high blood pressure and kidney failure.  - Voiding cystourethrogram (VCUG), radionuclide cystogram (RNC), and abdominal ultrasound are used to diagnose VUR.  - Children with VUR should also be assessed for bladder/bowel dysfunction (BBD). Children who have VUR along with any BBD symptoms are at greater risk of kidney damage due to infection.  - The standard treatment for primary VUR has included prompt treatment of UTIs and long-term use of antibiotics to prevent UTIs, also called antimicrobial prophylaxis, until VUR goes away on its own. Surgery has also been used in certain cases.  - Secondary VUR is treated by removing the blockage causing the reflux.


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[User] What are the symptoms of Pernicious Anemia ?

[Assistant]
A lack of vitamin B12 (vitamin B12 deficiency) causes the signs and symptoms of pernicious anemia. Without enough vitamin B12, your body can't make enough healthy red blood cells, which causes anemia.

Some of the signs and symptoms of pernicious anemia apply to all types of anemia. Other signs and symptoms are specific to a lack of vitamin B12.

Signs and Symptoms of Anemia

The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesnt have enough red blood cells to carry oxygen to its various parts.

A low red blood cell count also can cause shortness of breath, dizziness, headache, coldness in your hands and feet, pale or yellowish skin, and chest pain.

A lack of red blood cells also means that your heart has to work harder to move oxygen-rich blood through your body. This can lead to irregular heartbeats called arrhythmias (ah-RITH-me-ahs), heart murmur, an enlarged heart, or even heart failure.

Signs and Symptoms of Vitamin B12 Deficiency

Vitamin B12 deficiency may lead to nerve damage. This can cause tingling and numbness in your hands and feet, muscle weakness, and loss of reflexes. You also may feel unsteady, lose your balance, and have trouble walking. Vitamin B12 deficiency can cause weakened bones and may lead to hip fractures.

Severe vitamin B12 deficiency can cause neurological problems, such as confusion, dementia, depression, and memory loss.

Other symptoms of vitamin B12 deficiency involve the digestive tract. These symptoms include nausea (feeling sick to your stomach) and vomiting, heartburn, abdominal bloating and gas, constipation or diarrhea, loss of appetite, and weight loss. An enlarged liver is another symptom.

A smooth, thick, red tongue also is a sign of vitamin B12 deficiency and pernicious anemia.

Infants who have vitamin B12 deficiency may have poor reflexes or unusual movements, such as face tremors. They may have trouble feeding due to tongue and throat problems. They also may be irritable. If vitamin B12 deficiency isn't treated, these infants may have permanent growth problems.


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[User] What are the symptoms of ICF syndrome ?

[Assistant] What are the signs and symptoms of ICF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ICF 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) Decreased antibody level in blood 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neutrophils 50% Anemia 50% Cellular immunodeficiency 50% Cognitive impairment 50% Communicating hydrocephalus 50% Depressed nasal bridge 50% Lymphopenia 50% Macrocephaly 50% Malabsorption 50% Abnormality of the tongue 7.5% Epicanthus 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Umbilical hernia 7.5% Anteverted nares - Autosomal recessive inheritance - Bronchiectasis - Chronic bronchitis - Diarrhea - Failure to thrive - Flat face - Immunodeficiency - Intellectual disability - Low-set ears - Macroglossia - Pneumonia - Protruding tongue - Sinusitis - T lymphocytopenia - 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) Lymphocytic infiltrate of Jessner ?

[Assistant] Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. The lesions may fluctuate between periods of worsening and periods of improvement. Currently, the cause is not known.


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[User] Is fibrodysplasia ossificans progressiva inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In a small number of cases, an affected person has inherited the mutation from one affected parent.


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[User] What is the outlook for Childhood Acute Lymphoblastic Leukemia ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on:         - How quickly and how low the leukemia cell count drops after the first month of treatment.    - Age at the time of diagnosis, gender, race, and ethnic background.    - The number of white blood cells in the blood at the time of diagnosis.    - Whether the leukemia cells began from B lymphocytes or T lymphocytes.    - Whether there are certain changes in the chromosomes or genes of the lymphocytes with cancer.    - Whether the child has Down syndrome.    - Whether leukemia cells are found in the cerebrospinal fluid.    - The child's weight at the time of diagnosis and during treatment.        Treatment options depend on:         - Whether the leukemia cells began from B lymphocytes or T lymphocytes.    - Whether the child has standard-risk, high-risk, or very highrisk ALL.    - The age of the child at the time of diagnosis.    - Whether there are certain changes in the chromosomes of lymphocytes, such as the Philadelphia chromosome.    - Whether the child was treated with steroids before the start of induction therapy.    - How quickly and how low the leukemia cell count drops during treatment.        For leukemia that relapses (comes back) after treatment, the prognosis and treatment options depend partly on the following:         - How long it is between the time of diagnosis and when the leukemia comes back.    - Whether the leukemia comes back in the bone marrow or in other parts of the body.


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[User] What are the treatments for Donohue syndrome ?

[Assistant] These resources address the diagnosis or management of Donohue syndrome:  - Genetic Testing Registry: Leprechaunism 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] How many people are affected by nonsyndromic hearing loss ?

[Assistant] Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience hearing loss.


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[User] Do you have information about Hysterectomy

[Assistant] Summary : A hysterectomy is surgery to remove a woman's uterus or womb. The uterus is the place where a baby grows when a woman is pregnant. After a hysterectomy, you no longer have menstrual periods and can't become pregnant. Sometimes the surgery also removes the ovaries and fallopian tubes. If you have both ovaries taken out, you will enter menopause.    Your health care provider might recommend a hysterectomy if you have       - Fibroids     - Endometriosis that hasn't been cured by medicine or surgery    - Uterine prolapse - when the uterus drops into the vagina     - Cancer of the uterine, cervix, or ovaries    - Vaginal bleeding that persists despite treatment     - Chronic pelvic pain, as a last resort        Dept. of Health and Human Services Office on Women's Health


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[User] What are the treatments for Mantle cell lymphoma ?

[Assistant] How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication.


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[User] How many people are affected by persistent Mllerian duct syndrome ?

[Assistant] Persistent Mllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown.


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[User] What are the treatments for Primary hyperoxaluria type 2 ?

[Assistant] How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications. To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme.


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[User] What is (are) Situs inversus ?

[Assistant] Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported.


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[User] What is (are) Dravet Syndrome ?

[Assistant]
Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures  fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus  a state of continuous seizure requiring emergency medical care  also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.

In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age 5.


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[User] What are the treatments for Coccygodynia ?

[Assistant] What treatment is available for coccygodynia? Treatment for coccygodynia generally falls into conservative management or surgical intervention categories. The conservative approach typically includes hot sitz baths, NSAIDs, stool softeners, and/or the use of a donut-shaped pillow or gel cushion to descrease pressure and irritation of the coccyx. If these treatment options fails, glucocorticoid injections may be used in an attempt to reduce the pain. Massage therapy has also been used to help decrease pain, but most studies have shown that the relief experienced from this form of therapy is temporary. The more aggressive and rare approach involves either partial or complete removal of the coccyx (coccygectomy).


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[User] What are the treatments for Heart Failure ?

[Assistant] Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, including slowing the heart rate. Digoxin affects the hormones that worsen heart failure.


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[User] How many people are affected by blepharophimosis, ptosis, and epicanthus inversus syndrome ?

[Assistant] The prevalence of BPES is unknown.


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[User] Who is at risk for Chapare Hemorrhagic Fever (CHHF)? ?

[Assistant]
CHHF occurs in the Cochabamba region of Bolivia.
Field workers

Field workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. Laboratory infections have been frequently described with Arenaviruses and Chapare virus can certainly be transmitted to laboratory workers during manipulation of the virus especially during experimental infections of rodents.


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[User] What are the treatments for Bart-Pumphrey syndrome ?

[Assistant] These resources address the diagnosis or management of Bart-Pumphrey syndrome:  - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma  - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia 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