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

[User] What are the symptoms of Ullrich congenital muscular dystrophy ?

[Assistant] What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital muscular dystrophy. 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 - Autosomal recessive inheritance - Congenital muscular dystrophy - Facial palsy - Failure to thrive - Feeding difficulties in infancy - Flexion contracture - Follicular hyperkeratosis - Generalized amyotrophy - High palate - Hip dislocation - Hyperextensibility at wrists - Hyperhidrosis - Increased laxity of ankles - Increased laxity of fingers - Increased variability in muscle fiber diameter - Infantile onset - Joint laxity - Kyphosis - Mildly elevated creatine phosphokinase - Motor delay - Muscle fiber necrosis - Neonatal hypotonia - Nocturnal hypoventilation - Progressive - Protruding ear - Proximal muscle weakness - Recurrent lower respiratory tract infections - Respiratory insufficiency due to muscle weakness - Round face - Scoliosis - Slender build - Spinal rigidity - Talipes equinovarus - Torticollis - Type 1 muscle fiber predominance - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Osteopetrosis autosomal recessive 5 ?

[Assistant] What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 5. 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 - Autosomal recessive inheritance - Decreased osteoclast count - Hydrocephalus - Osteopetrosis - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How to diagnose Thrombocytopenia ?

[Assistant]
Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in diagnosing and treating blood diseases and conditions.

Once thrombocytopenia is diagnosed, your doctor will begin looking for its cause.

Medical History

Your doctor may ask about factors that can affect your platelets, such as:

The medicines you take, including over-the-counter medicines and herbal remedies, and whether you drink beverages that contain quinine. Quinine is a substance often found in tonic water and nutritional health products.

Your general eating habits, including the amount of alcohol you normally drink.

Your risk for AIDS, including questions about blood transfusions, sexual partners, intravenous (IV) drugs, and exposure to infectious blood or bodily fluids at work.

Any family history of low platelet counts.

Physical Exam

Your doctor will do a physical exam to look for signs and symptoms of bleeding, such as bruises or spots on the skin. He or she will check your abdomen for signs of an enlarged spleen or liver. You also will be checked for signs of infection, such as a fever.

Diagnostic Tests

Your doctor may recommend one or more of the following tests to help diagnose a low platelet count. For more information about blood tests, go to the Health Topics Blood Tests article.

Complete Blood Count

A complete blood count (CBC) measures the levels of red blood cells, white blood cells, and platelets in your blood. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm.

If you have thrombocytopenia, the results of this test will show that your platelet count is low.

Blood Smear

A blood smear is used to check the appearance of your platelets under a microscope. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm.

Bone Marrow Tests

Bone marrow tests check whether your bone marrow is healthy. Blood cells, including platelets, are made in your bone marrow. The two bone marrow tests are aspiration (as-pih-RA-shun) and biopsy.

Bone marrow aspiration might be done to find out why your bone marrow isn't making enough blood cells. For this test, your doctor removes a sample of fluid bone marrow through a needle. He or she examines the sample under a microscope to check for faulty cells.

A bone marrow biopsy often is done right after an aspiration. For this test, your doctor removes a sample of bone marrow tissue through a needle. He or she examines the tissue to check the number and types of cells in the bone marrow.

Other Tests

If a bleeding problem is suspected, you may need other blood tests as well. For example, your doctor may recommend PT and PTT tests to see whether your blood is clotting properly.

Your doctor also may suggest an ultrasound to check your spleen. An ultrasound uses sound waves to create pictures of your spleen. This will allow your doctor to see whether your spleen is enlarged.


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[User] Is cystinuria inherited ?

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


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[User] What are the treatments for Obesity Hypoventilation Syndrome ?

[Assistant]
Treatments for obesity hypoventilation syndrome (OHS) include breathing support, weight loss, and medicines.

The goals of treating OHS may include:

Supporting and aiding your breathing

Achieving major weight loss

Treating underlying and related conditions

Breathing Support

Positive Airway Pressure

Treatment for OHS often involves a machine that provides positive airway pressure (PAP) while you sleep.

PAP therapy uses mild air pressure to keep your airways open. This treatment can help your body better maintain the carbon dioxide and oxygen levels in your blood. PAP therapy also can help relieve daytime sleepiness.

Your doctor might recommend CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure). CPAP provides continuous mild air pressure to keep your airways open. BiPAP works almost the same, but it changes the air pressure while you breathe in and out.

The machines have three main parts:

A mask or other device that fits over your nose or your nose and mouth. Straps keep the mask in place while you're wearing it.

A tube that connects the mask to the machine's motor.

A motor that blows air into the tube.

Some machines have other features, such as heated humidifiers. The machines are small, lightweight, and fairly quiet. The noise they make is soft and rhythmic.

Some people who have OHS receive extra oxygen as part of their PAP treatment. However, oxygen therapy alone isn't recommended as a treatment for OHS.

PAP therapy also is used to treat obstructive sleep apnea. Many people who have OHS also have this common condition.

If your doctor prescribes PAP therapy, you'll work with someone from a home equipment provider to select a CPAP or BiPAP machine. The home equipment provider will help you pick a machine based on your prescription and the features that meet your needs.

Ventilator Support

If you have severe OHS that requires treatment in a hospital, you might be put on a ventilator. A ventilator is a machine that supports breathing. This machine:

Gets oxygen into your lungs

Removes carbon dioxide from your body

Helps you breathe easier

A ventilator blows air, or air with extra oxygen, into the airways through a breathing tube. One end of the tube is inserted into your windpipe, and the other end is hooked to the ventilator.

Usually, the breathing tube is put into your nose or mouth and then moved down into your throat. A tube placed like this is called an endotracheal (en-do-TRA-ke-al) tube. Endotracheal tubes are used only in a hospital setting.

Sometimes the breathing tube is placed through a surgically made hole called a tracheostomy (TRA-ke-OS-toe-me). The hole goes through the front of your neck and into your windpipe.

The procedure to make a tracheostomy usually is done in an operating room. You'll be given medicine so you won't feel any pain. The tracheostomy allows you to be on a ventilator in the hospital, in a long-term care facility, or at home.

Talk with your doctor about how long you'll need ventilator support and whether you can receive treatment at home.

For more information about ventilator support, go to the Health Topics Ventilator/Ventilator Support article.

Weight Loss

Your doctor will likely recommend weight loss as part of your treatment plan. Successful weight loss often involves setting goals and making lifestyle changes. For example, eating fewer calories and being physically active can help you lose weight.

Medicines and weight-loss surgery might be an option if lifestyle changes aren't enough. Your doctor will advise you on the best weight-loss treatment for you.

For more information about weight loss, go to the treatment section of the Health Topics Overweight and Obesity article.

Medicines

Your doctor may prescribe medicines to treat OHS (although this treatment is less common than others).

Your doctor also may advise you to avoid certain substances and medicines that can worsen OHS. Examples include alcohol, sedatives, and narcotics. They can interfere with how well your body is able to maintain normal carbon dioxide and oxygen levels.

If you're having surgery, make sure you tell your surgeon and health care team that you have OHS. Some medicines routinely used for surgery can worsen your condition.


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[User] What are the symptoms of Bone dysplasia lethal Holmgren type ?

[Assistant] What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[Assistant] Researchers continue to look at new ways to treat, diagnose, and prevent colorectal cancer. Many are testing other types of treatments in clinical trials. Advances in Treatments Studies have found that patients who took the drug Avastin, a targeted chemotherapy drug, with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but some studies have indicated that Avastin does not extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccines therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory. Surgical techniques have reduced the number of patients needing a permanent colostomy. A colostomy is an opening made in the abdomen for waste to pass out of the body before it reaches the rectum. In many cases, the surgeon can reconnect the healthy parts of the colon back together after removing the cancer. This way, the colon can function just as it did before. The PLCO Trial The National Cancer Institute's Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, or PLCO Trial, recently provided results about the role of sigmoidoscopy in reducing deaths from colon and rectal cancers. The PLCO trial, involving 148,000 volunteers aged 55 to 74, compared two groups of people over a 10-year period and found that the group that received sigmoidoscopies had fewer deaths from colorectal cancer than those who did not get a sigmoidoscopy. NSAIDs and Polyp Formation Preventing colorectal cancer is a concern of many researchers. Studies have shown that non-steroidal anti-inflammatory drugs (NSAIDs) can keep large-bowel polyps from forming. Bowel polyps can start out benign, or non-cancerous, but can become cancerous. However, the effects that these drugs have on the heart and other parts of the body is of concern, therefore these drugs should only be used for prevention under a doctor's supervision. Genetic Research Genes involved in colorectal cancer continue to be identified and understood. Hereditary nonpolyposis colorectal cancer, or HNPCC, is one condition that causes people in a certain family to develop colorectal cancer at a young age. The discovery of four genes involved with this disease has provided crucial clues about the role of DNA repair in colorectal and other cancers. Scientists are continuing to identify genes associated with colon cancers that run in families. Using traditional screening methods on people from families that carry these genes may be another way to identify cancers at an early stage and cut deaths from colorectal cancer. Genetic screening of people at high risk may become more common in the near future Besides looking at genes in families, researchers in the The Cancer Genome Atlas study looked at the genes of actual colon tumors to better understand the contribution that genes make to cancer. By looking at the genetic composition of the tumor, researchers were able to identify new mutations (changes) in the genes that can lead to cancer, including the genes BRAF and EGRF.


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[User] What are the symptoms of Heart-hand syndrome, Spanish type ?

[Assistant] What are the signs and symptoms of Heart-hand syndrome, Spanish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Short toe 50% Abnormality of the cardiovascular system - Autosomal dominant inheritance - Short middle phalanx of finger - Sick sinus syndrome - Ulnar deviation of the 2nd 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] How to prevent Whipple Disease ?

[Assistant] Experts have not yet found a way to prevent Whipple disease.


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[User] Who is at risk for Intraocular (Uveal) Melanoma? ?

[Assistant] Being older and having fair skin may increase the risk of intraocular melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk.    Risk factors for intraocular melanoma include the following:         - 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.             - Older age.    - Being white.


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[User] What is (are) pseudoxanthoma elasticum ?

[Assistant] Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body.  In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss.  Mineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.


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[User] What are the symptoms of Hydrops fetalis ?

[Assistant] What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. 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 heme biosynthetic pathway 90% Anemia 90% Congestive heart failure 90% Hydrops fetalis 90% Pallor 90% Hepatomegaly 50% Hydrocephalus 50% Oligohydramnios 50% Polyhydramnios 50% Splenomegaly 50% Toxemia of pregnancy 50% Abnormality of the pericardium 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Amelogenesis imperfecta ?

[Assistant] Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.


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[User] Is Nicolaides-Baraitser syndrome inherited ?

[Assistant] How is Nicolaides-Baraitser syndrome inherited? Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. All known cases of NCBRS have been sporadic. This means it is thought that the mutation occurred for the first time in each affected person (called a de novo mutation). There have not been reports of NCBRS being inherited from a parent, or recurring in any family (with the exception of one pair of identical twins).


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[User] What are the symptoms of Joubert syndrome 2 ?

[Assistant] What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology - Abnormality of saccadic eye movements - Abnormality of the corpus callosum - Abnormality of the foot - Agenesis of cerebellar vermis - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Chorioretinal coloboma - Depressed nasal bridge - Dolichocephaly - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Encephalocele - Enlarged fossa interpeduncularis - Episodic tachypnea - Esotropia - Failure to thrive - Frontal bossing - Heterogeneous - High palate - Hydrocephalus - Hypertelorism - Hypoplasia of the brainstem - Hypoplastic male external genitalia - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Microphthalmia - Molar tooth sign on MRI - Muscular hypotonia - Neonatal breathing dysregulation - Nephronophthisis - Nystagmus - Oculomotor apraxia - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Renal cyst - Retinal dystrophy - Thickened superior cerebellar peduncle - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) renal coloboma syndrome ?

[Assistant] Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys.  Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision.  Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.


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[User] What are the symptoms of WaterhouseFriderichsen syndrome ?

[Assistant] What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain).  A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome. In its early stages, the rash consists of small, pink macules or papules. These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease.


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[User] How many people are affected by Adams-Oliver syndrome ?

[Assistant] Adams-Oliver syndrome is a rare disorder; its prevalence is unknown.


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[User] What are the symptoms of Arrhythmia ?

[Assistant]
Many arrhythmias cause no signs or symptoms. When signs or symptoms are present, the most common ones are:

Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast)

A slow heartbeat

An irregular heartbeat

Feeling pauses between heartbeats

More serious signs and symptoms include:

Anxiety

Weakness, dizziness, and light-headedness

Fainting or nearly fainting

Sweating

Shortness of breath

Chest pain


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[User] What is (are) acral peeling skin syndrome ?

[Assistant] Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems.


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[User] What are the symptoms of Peyronie's Disease ?

[Assistant]
The signs and symptoms of Peyronies disease may include

- hard lumps on one or more sides of the penis  - pain during sexual intercourse or during an erection  - a curve in the penis either with or without an erection  - narrowing or shortening of the penis  - ED

Symptoms of Peyronies disease range from mild to severe. Symptoms may develop slowly or appear quickly. In many cases, the pain decreases over time, although the curve in the penis may remain. In milder cases, symptoms may go away without causing a permanent curve.


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[User] What is (are) spastic paraplegia type 7 ?

[Assistant] Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 7 can occur in either the pure or complex form.  Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and increased muscle weakness. People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The onset of symptoms varies greatly among those with spastic paraplegia type 7; however, abnormalities in muscle tone and other features are usually noticeable in adulthood.


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[User] What is (are) Osteopetrosis autosomal recessive 3 ?

[Assistant] Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.


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[User] Who is at risk for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone? ?

[Assistant] Having past treatment with radiation can increase the risk of osteosarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Risk factors for osteosarcoma include the following:         - Past treatment with radiation therapy.    - Past treatment with anticancer drugs called alkylating agents.    - Having a certain change in the retinoblastoma gene.    - Having certain conditions, such as the following:               -  Bloom syndrome.      -  Diamond-Blackfan anemia.      -  Li-Fraumeni syndrome.      -  Paget disease.      -  Hereditary retinoblastoma.      -  Rothmund-Thomson syndrome.      -  Werner syndrome.


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[User] What are the treatments for Angelman Syndrome ?

[Assistant] There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.


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[User] What are the symptoms of Tay-Sachs disease ?

[Assistant] What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Tay-Sachs disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Abnormality of the macula 90% Developmental regression 90% EEG abnormality 90% Hearing impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Incoordination 90% Macrocephaly 90% Seizures 90% Hepatomegaly 50% Hypertonia 50% Muscular hypotonia 50% Myotonia 50% Optic atrophy 50% Recurrent respiratory infections 50% Splenomegaly 50% Apathy - Aspiration - Autosomal recessive inheritance - Blindness - Cherry red spot of the macula - Dementia - Exaggerated startle response - GM2-ganglioside accumulation - Infantile onset - Poor head control - Psychomotor deterioration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is the outlook for Childhood Extracranial Germ Cell Tumors ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - The type of germ cell tumor.    - Where the tumor first began to grow.    - The stage of the cancer (whether it has spread to nearby areas or to other places in the body).    - How well the tumor responds to treatment (lower AFP and -hCG levels).    - Whether the tumor can be completely removed by surgery.    - The patient's age and general health.    - Whether the cancer has just been diagnosed or has recurred (come back).        The prognosis for childhood extracranial germ cell tumors, especially ovarian germ cell tumors, is good.


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[User] What is (are) Creutzfeldt-Jakob Disease ?

[Assistant] Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year.    The three main categories of CJD are        - Sporadic CJD, which occurs for no known reason     - Hereditary CJD, which runs in families    - Acquired CJD, which occurs from contact with infected tissue, usually during a medical procedure       Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) or "mad cow disease." There is concern that people can get a variant of CJD from eating beef from an infected animal, but there is no direct proof to support this.    NIH: National Institute of Neurological Disorders and Stroke


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[User] What causes Shingles ?

[Assistant] Caused By A Virus Shingles is caused by a virus called varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores healed and the other symptoms went away, but the virus remained. It is with you for life. The virus hides out in nerve cells, usually in the spine. But it can become active again. Somehow, the virus gets a signal that your immunity has become weakened. This triggers the reactivation. When the virus becomes active again, it follows a nerve path called a dermatome. The nerve path begins at specific points in the spine, continues around one side of the body, and surfaces at the nerve endings in the skin. The pattern of the rash reflects the location of that nerve path. Risk Factors The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of this and become active again. Conditions that weaken the immune system can also put people at risk for shingles. Shingles is especially dangerous for anyone who has had cancer, radiation treatments for cancer, HIV/AIDS, or a transplant operation. Stress is another factor that may contribute to outbreaks. While stress alone does not cause the outbreaks, shingles often occurs in people who have recently had a stressful event in their lives. Most cases of shingles occur in adults. Only about 5 percent of cases occur in children. With children, immune deficiency is the primary risk factor, but children who had chickenpox before they were one year old may also get shingles before they become adults. There have been studies of adults who had chickenpox as children and were later exposed to children who had chickenpox. Interestingly, that exposure apparently boosted the adult's immunity, which actually helped them avoid getting shingles later in life.


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[User] What are the treatments for Behcet's Disease ?

[Assistant] Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system. Immunosuppressive therapy may be considered.


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[User] How many people are affected by SOST-related sclerosing bone dysplasia ?

[Assistant] SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown.  Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the Afrikaner population of South Africa.  Van Buchem disease has been reported in approximately 30 people. Most people with van Buchem disease are of Dutch ancestry.


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[User] What is (are) hypokalemic periodic paralysis ?

[Assistant] Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life.  People with hypokalemic periodic paralysis have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.


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[User] How many people are affected by hereditary sensory and autonomic neuropathy type V ?

[Assistant] HSAN5 is very rare. Only a few people with the condition have been identified.


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[User] What are the treatments for Rubinstein-Taybi syndrome ?

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


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[User] Is nephronophthisis inherited ?

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


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

[Assistant] Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart's normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome.  Mutations in other genes can also cause Brugada syndrome. Together, these other genetic changes account for less than two percent of cases of the condition. Some of the additional genes involved in Brugada syndrome provide instructions for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. Proteins produced by other genes involved in the condition form or help regulate ion channels that transport calcium or potassium into or out of heart muscle cells. As with sodium channels, proper flow of ions through calcium and potassium channels in the heart muscle helps maintain a regular heartbeat. Mutations in these genes disrupt the flow of ions, impairing the heart's normal rhythm.  In affected people without an identified gene mutation, the cause of Brugada syndrome is often unknown. In some cases, certain drugs may cause a nongenetic (acquired) form of the disorder. Drugs that can induce an altered heart rhythm include medications used to treat some forms of arrhythmia, a condition called angina (which causes chest pain), high blood pressure, depression, and other mental illnesses. Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as unusually low potassium levels (hypokalemia), also have been associated with acquired Brugada syndrome. In addition to causing a nongenetic form of this disorder, these factors may trigger symptoms in people with an underlying mutation in SCN5A or another gene.


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[User] What are the symptoms of Trichorhinophalangeal syndrome type 3 ?

[Assistant] What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormality of the nervous system - Accelerated bone age after puberty - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Cone-shaped epiphyses of the middle phalanges of the hand - Coxa magna - Delayed skeletal maturation - Dental crowding - Osteopenia - Pear-shaped nose - Protruding ear - Short finger - Short foot - Short metacarpal - Short metatarsal - Short palm - Short phalanx of finger - Smooth philtrum - Sparse hair - Sparse lateral eyebrow - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the genetic changes related to gnathodiaphyseal dysplasia ?

[Assistant] Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear.  The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.


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[User] What is (are) Small Intestine Cancer ?

[Assistant]
Key Points
                    - Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine.    - There are five types of small intestine cancer.    - Diet and health history can affect the risk of developing small intestine cancer.    - Signs and symptoms of small intestine cancer include unexplained weight loss and abdominal pain.    - Tests that examine the small intestine are used to detect (find), diagnose, and stage small intestine cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine.
                    The small intestine is part of the bodys digestive system, which also includes the esophagus, stomach, and large intestine. The digestive system removes and processes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The small intestine is a long tube that connects the stomach to the large intestine. It folds many times to fit inside the abdomen.

                    There are five types of small intestine cancer.
                    The types of cancer found in the small intestine are adenocarcinoma, sarcoma, carcinoid tumors, gastrointestinal stromal tumor, and lymphoma. This summary discusses adenocarcinoma and leiomyosarcoma (a type of sarcoma).    Adenocarcinoma starts in glandular cells in the lining of the small intestine and is the most common type of small intestine cancer. Most of these tumors occur in the part of the small intestine near the stomach. They may grow and block the intestine.   Leiomyosarcoma starts in the smooth muscle cells of the small intestine. Most of these tumors occur in the part of the small intestine near the large intestine.    See the following PDQ summaries for more information on small intestine cancer:          -  Adult Soft Tissue Sarcoma Treatment     -  Childhood Soft Tissue Sarcoma Treatment     -  Adult Non-Hodgkin Lymphoma Treatment     -  Childhood Non-Hodgkin Lymphoma Treatment     -  Gastrointestinal Carcinoid Tumors Treatment     -  Gastrointestinal Stromal Tumors Treatment


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[User] What is (are) Brachial Plexus Injuries ?

[Assistant]
The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the babys shoulder is stretched during passage in the birth canal (see Brachial Plexus Birth Injuries).

The severity of a brachial plexus injury is determined by the type of damage done to the nerves. The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch injury, is the mildest type of injury Neuropraxia damages the protective covering of the nerve, which causes problems with nerve signal conduction, but does not always damage the nerve underneath.


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[User] Is short QT syndrome inherited ?

[Assistant] Short QT syndrome appears to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems and sudden cardiac death. Other cases of short QT syndrome are classified as sporadic and occur in people with no apparent family history of related heart problems.


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[User] What are the treatments for Hallermann-Streiff syndrome ?

[Assistant] How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients. Although early surgical removal of cataracts may be recommended to help preserve vision, some studies have suggested that spontaneous cataract absorption may occur in up to 50% of untreated patients. Regular appointments with an ophthalmologist are strongly recommended to identify and treat other eye abnormalities, some of which may require surgical intervention. With respect to dental anomalies, natal/neonatal teeth (teeth present at birth) may be incorrectly diagnosed as extra teeth and there may be a tendency to extract them. However, the loss of teeth may worsen glossoptosis (posteriorly location of the tongue) or cause other complications. It has thus been recommended to preserve prematurely erupting teeth to facilitate eating until the existence of successional permanent teeth can be confirmed. Ensuring good dental hygiene is also important. Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly the mandibular and nasal region) at the appropriate age. For some affected infants and children with heart defects, medical treatment and/or surgical intervention may be recommended.


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[User] What are the treatments for Dry Mouth ?

[Assistant] Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky.


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[User] What are the symptoms of Cryptogenic organizing pneumonia ?

[Assistant] What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare)


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[User] What is (are) Listeria Infections ?

[Assistant] Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator.     Symptoms include fever and chills, headache, upset stomach and vomiting. Treatment is with antibiotics.    Anyone can get the illness. But it is most likely to affect pregnant women and unborn babies, older adults, and people with weak immune systems. To reduce your risk       - Use precooked and ready-to-eat foods as soon as you can     -  Avoid raw milk and raw milk products    -  Heat ready-to-eat foods and leftovers until they are steaming hot    -  Wash fresh fruits and vegetables     -  Avoid rare meat and refrigerated smoked seafood       Centers for Disease Control and Prevention


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[User] What causes Muir-Torre syndrome ?

[Assistant] What causes Muir-Torre syndrome? Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene. These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before cells divide. When one of these genes is mutated and causes the related protein to be absent or nonfunctional, the number of DNA mistakes that do not get repaired increases substantially. The affected cells do not function normally, increasing the risk of tumor formation. The MSH2 gene is responsible for MTS in the majority of cases. Mutations in MLH1 and MSH2 have the most severe effect. Not everyone diagnosed with MTS will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.


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[User] What are the symptoms of Microphthalmia syndromic 5 ?

[Assistant] What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 5. 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) Cleft palate 5% Cryptorchidism 5% Ectopic posterior pituitary 5% Micropenis 5% Short stature 5% Autosomal dominant inheritance - Cataract - Coloboma - Joint laxity - Microcornea - Microphthalmia - Muscular hypotonia - Retinal dystrophy - Seizures - 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) WaterhouseFriderichsen syndrome ?

[Assistant] WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although adults may rarely be affected. It is deadly if not treated immediately.


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[User] Is ring chromosome 20 syndrome inherited ?

[Assistant] Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism.  Most affected individuals have no history of the disorder in their families. However, at least one family has been reported in which a ring chromosome 20 was passed from a mother to her children.


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[User] What are the treatments for Common variable immunodeficiency ?

[Assistant] How might common variable immunodeficiency be treated?  The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.


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[User] What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ?

[Assistant] These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia:  - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia  - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia   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) Cant syndrome ?

[Assistant] Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.  People with Cant syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set.  Many infants with Cant syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. Other heart problems have also been found in people with Cant syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).  Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.


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[User] What are the genetic changes related to ichthyosis with confetti ?

[Assistant] Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attaches to another keratin protein (produced from a different gene) to form fibers called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the skin.  KRT10 gene mutations associated with ichthyosis with confetti alter the keratin 10 protein. The altered protein is abnormally transported to the nucleus of cells, where it cannot form networks of intermediate filaments. Loss of these networks disrupts the epidermis, contributing to the red, scaly skin. However, in some abnormal cells, the mutated gene corrects itself through a complex process by which genetic material is exchanged between chromosomes. As a result, normal keratin 10 protein is produced and remains in the cytoplasm. The cell becomes normal and, as it continues to grow and divide, forms small patches of normal skin that give ichthyosis with confetti its name.


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[User] What is (are) guanidinoacetate methyltransferase deficiency ?

[Assistant] Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics.  People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.


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

[Assistant] The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes 3, 10, or 13 in some families. Certain medications taken during pregnancy and abuse of drugs such as cocaine may also be risk factors for Moebius syndrome.  Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII. These nerves, which emerge from the brainstem at the back of the brain, control back-and-forth eye movement and facial expressions. The disorder can also affect other cranial nerves that are important for speech, chewing, and swallowing. Abnormal development of cranial nerves leads to the facial muscle weakness or paralysis that is characteristic of Moebius syndrome.  Researchers speculate that Moebius syndrome may result from changes in blood flow to the brainstem during early stages of embryonic development. However, it is unclear what causes these changes to occur and why they specifically disrupt the development of cranial nerves VI and VII. Even less is known about the causes of some other signs and symptoms of this condition, including hand and foot abnormalities.


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[User] What is (are) Potassium aggravated myotonia ?

[Assistant] Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement.  The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia.  Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium.  Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease.  Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene.  Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide).


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[User] What is (are) Behr syndrome ?

[Assistant] Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person.  Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Autosomal dominant inheritance has been reported in one family. Treatment depends on the specific signs and symptoms seen in the patient.


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[User] What are the treatments for Juvenile myoclonic epilepsy ?

[Assistant] How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated. The majority of patients can be well controlled on a single drug, most commonly valproic acid or lamotrigine or possibly topiramate. More details about the medications used to treat juvenile myoclonic epilepsy can be found at the following link. http://emedicine.medscape.com/article/1185061-treatment


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[User] What is (are) Tourette syndrome ?

[Assistant] Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood.  Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning.  Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome.  In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep.


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[User] Is Glucose transporter type 1 deficiency syndrome inherited ?

[Assistant] Is glucose transporter type 1 deficiency syndrome inherited? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) 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 GLUT1 deficiency syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.


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[User] What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ?

[Assistant] What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. 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) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Cyanosis - Dyspnea - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Mesenteric artery aneurysm - Nasal mucosa telangiectasia - Palate telangiectasia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - 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 Rett syndrome ?

[Assistant] What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Developmental regression 90% Gait disturbance 90% Neurological speech impairment 90% Stereotypic behavior 90% Abnormality of the eye 50% Cerebral cortical atrophy 50% Hypertonia 50% Incoordination 50% Kyphosis 50% Muscle weakness 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormality of the autonomic nervous system 7.5% Apnea 7.5% Arrhythmia 7.5% Autism 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Microcephaly 7.5% Reduced bone mineral density 7.5% Self-injurious behavior 7.5% Skeletal muscle atrophy 7.5% Abnormality of the teeth - Autistic behavior - Bruxism - Cachexia - Constipation - Dystonia - EEG abnormality - EKG: T-wave abnormalities - Gait apraxia - Gait ataxia - Gastroesophageal reflux - Intellectual disability, profound - Intermittent hyperventilation - Motor deterioration - Postnatal microcephaly - Prolonged QTc interval - Short foot - Short stature - Spasticity - Truncal ataxia - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How many people are affected by mucolipidosis II alpha/beta ?

[Assistant] Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.


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[User] How to prevent Mitral Valve Prolapse ?

[Assistant]
You can't prevent mitral valve prolapse (MVP). Most people who have the condition are born with it.

Complications from MVP, such as arrhythmias (irregular heartbeats) and infective endocarditis (IE), are rare. IE is an infection of the inner lining of your heart chambers and valves.

People at high risk for IE may be given antibiotics before some types of surgery and dental work. Antibiotics can help prevent IE. Your doctor will tell you whether you need this type of treatment.

People at high risk for IE may include those who've had valve repair or replacement or who have some types of underlying heart disease.


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[User] What are the treatments for Uterine Sarcoma ?

[Assistant]
Key Points
                    - There are different types of treatment for patients with uterine sarcoma.    - Four types of standard treatment are used:         - Surgery     - Radiation therapy     - Chemotherapy     - Hormone 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 uterine sarcoma.
                    Different types of treatments are available for patients with uterine sarcoma. 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.

                    Four types of standard treatment are used:
                    Surgery     Surgery is the most common treatment for uterine sarcoma, as described in the Stages of Uterine Sarcoma section of this summary.    Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy.       Radiation therapy    Radiation therapy is a cancer treatment that uses high energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:             -  External radiation therapy uses a machine outside the body to send radiation toward the cancer.     -  Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer.           The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat uterine sarcoma, and may also be used as palliative therapy to relieve symptoms and improve quality of life.       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.       Hormone therapy     Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances produced by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working.

                    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 by Stage

		                    Stage I Uterine Sarcoma
		                    Treatment of stage I uterine sarcoma may include the following:         -  Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy).    - Surgery followed by radiation therapy to the pelvis.     - Surgery followed by chemotherapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Stage II Uterine Sarcoma
		                    Treatment of stage II uterine sarcoma may include the following:         -  Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy).     - Surgery followed by radiation therapy to the pelvis.    - Surgery followed by chemotherapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Stage III Uterine Sarcoma
		                    Treatment of stage III uterine sarcoma may include the following:         -  Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy).    - A clinical trial of surgery followed by radiation therapy to the pelvis.    - A clinical trial of surgery followed by chemotherapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Stage IV Uterine Sarcoma
		                    There is no standard treatment for patients with stage IV uterine sarcoma. Treatment may include a clinical trial using chemotherapy.    Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV uterine sarcoma. 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] How many people are affected by fragile XE syndrome ?

[Assistant] Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. Only a small number of affected females have been described in the medical literature. Because mildly affected individuals may never be diagnosed, it is thought that the condition may be more common than reported.


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[User] How many people are affected by rheumatoid arthritis ?

[Assistant] Rheumatoid arthritis affects about 1.3 million adults in the United States. Worldwide, it is estimated to occur in up to 1 percent of the population. The disease is two to three times more common in women than in men, which may be related to hormonal factors.


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[User] What causes Lichen sclerosus ?

[Assistant] What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. Other autoimmune conditions are reported to occur more frequently than expected in people with lichen sclerosis. In some cases, lichen sclerosus appears on skin that has been damaged or scarred from previous injury or trauma.


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[User] what research (or clinical trials) is being done for Meningitis and Encephalitis ?

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Current research efforts include gaining a better understanding of how the central nervous system responds to inflammation in the brain, as well as to better understand the molecular mechanisms involved in the protection and disruption of the blood-brain barrier, which could lead to the development of new treatments for several neuroinflammatory diseases such as meningitis and encephalitis.


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[User] What is the outlook for Gerstmann-Straussler-Scheinker Disease ?

[Assistant] GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow.


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[User] What is (are) Pompe Disease ?

[Assistant]
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The enzyme performs its function in intracellular compartments called lysosomes. Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.

Early onset (or the infantile form) is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues. Most babies die from cardiac or respiratory complications before their first birthday.

Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart is usually not involved. A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample. Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended. Carriers are most reliably identified via genetic mutation analysis.


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[User] What causes What I need to know about Gas ?

[Assistant]
Most foods that contain carbohydrates can cause gas. Foods that cause gas for one person may not cause gas for someone else. Some foods that contain carbohydrates and may cause gas are

- beans  - vegetables such as broccoli, cauliflower, cabbage, brussels sprouts, onions, mushrooms, artichokes, and asparagus  - fruits such as pears, apples, and peaches  - whole grains such as whole wheat and bran  - sodas; fruit drinks, especially apple juice and pear juice; and other drinks that contain high fructose corn syrup, a sweetener made from corn  - milk and milk products such as cheese, ice cream, and yogurt  - packaged foodssuch as bread, cereal, and salad dressingthat contain small amounts of lactose, the sugar found in milk and foods made with milk  - sugar-free candies and gums that contain sugar alcohols such as sorbitol, mannitol, and xylitol