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

[User] What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ?

[Assistant] What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor 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 head - Autosomal dominant inheritance - Hamartoma - Hurthle cell thyroid adenoma - Hypercalcemia - Hyperparathyroidism - Nephroblastoma (Wilms tumor) - Nephrolithiasis - Pancreatic adenocarcinoma - Papillary renal cell carcinoma - Parathyroid adenoma - Parathyroid carcinoma - Polycystic kidney dysplasia - Recurrent pancreatitis - Renal cortical adenoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for nonsyndromic holoprosencephaly ?

[Assistant] These resources address the diagnosis or management of nonsyndromic holoprosencephaly:  - Gene Review: Gene Review: Holoprosencephaly Overview  - Genetic Testing Registry: Holoprosencephaly 1  - Genetic Testing Registry: Holoprosencephaly 10  - Genetic Testing Registry: Holoprosencephaly 2  - Genetic Testing Registry: Holoprosencephaly 3  - Genetic Testing Registry: Holoprosencephaly 4  - Genetic Testing Registry: Holoprosencephaly 5  - Genetic Testing Registry: Holoprosencephaly 6  - Genetic Testing Registry: Holoprosencephaly 7  - Genetic Testing Registry: Holoprosencephaly 8  - Genetic Testing Registry: Holoprosencephaly 9  - Genetic Testing Registry: Holoprosencephaly sequence  - Genetic Testing Registry: NODAL-Related Holoprosencephaly   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) congenital deafness with labyrinthine aplasia, microtia, and microdontia ?

[Assistant] Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals have some underdeveloped inner ear structures in one or both ears. The abnormalities of the inner ear cause a form of hearing loss called sensorineural deafness that is present from birth (congenital). Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia).


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[User] What are the treatments for Gastritis ?

[Assistant]
Health care providers treat gastritis with medications to

- reduce the amount of acid in the stomach  - treat the underlying cause

Reduce the Amount of Acid in the Stomach

The stomach lining of a person with gastritis may have less protection from acidic digestive juice. Reducing acid can promote healing of the stomach lining. Medications that reduce acid include

- antacids, such as Alka-Seltzer, Maalox, Mylanta, Rolaids, and Riopan. Many brands use different combinations of three basic saltsmagnesium, aluminum, and calciumalong with hydroxide or bicarbonate ions to neutralize stomach acid. Antacids, however, can have side effects. Magnesium salt can lead to diarrhea, and aluminum salt can cause constipation. Magnesium and aluminum salts are often combined in a single product to balance these effects. Calcium carbonate antacids, such as Tums, Titralac, and Alka-2, can cause constipation.  - H2 blockers, such as cimetidine (Tagamet HB), famotidine (Pepcid AC), nizatidine (Axid AR), and ranitidine (Zantac 75). H2 blockers decrease acid production. They are available in both over-the-counter and prescription strengths.  - proton pump inhibitors (PPIs) include omeprazole (Prilosec, Zegerid), lansoprazole (Prevacid), dexlansoprazole (Dexilant), pantoprazole (Protonix), rabeprazole (AcipHex), and esomeprazole (Nexium). PPIs decrease acid production more effectively than H2 blockers. All of these medications are available by prescription. Omeprazole and lansoprazole are also available in over-the-counter strength.

Treat the Underlying Cause

Depending on the cause of gastritis, a health care provider may recommend additional treatments.

- Treating H. pylori infection with antibiotics is important, even if a person does not have symptoms from the infection. Curing the infection often cures the gastritis and decreases the chance of developing complications, such as peptic ulcer disease, MALT lymphoma, and gastric cancer.  - Avoiding the cause of reactive gastritis can provide some people with a cure. For example, if prolonged NSAID use is the cause of the gastritis, a health care provider may advise the patient to stop taking the NSAIDs, reduce the dose, or change pain medications.  - Health care providers may prescribe medications to prevent or treat stress gastritis in a patient who is critically ill or injured. Medications to protect the stomach lining include sucralfate (Carafate), H2 blockers, and PPIs. Treating the underlying illness or injury most often cures stress gastritis.  - Health care providers may treat people with pernicious anemia due to autoimmune atrophic gastritis with vitamin B12 injections.


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[User] How to diagnose Esthesioneuroblastoma ?

[Assistant] How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans.


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[User] How many people are affected by boomerang dysplasia ?

[Assistant] Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified.


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[User] Do you have information about Folic Acid

[Assistant] Summary : Folic acid is a B vitamin. It helps the body make healthy new cells. Everyone needs folic acid. For women who may get pregnant, it is really important. Getting enough folic acid before and during pregnancy can prevent major birth defects of her baby's brain or spine.     Foods with folic acid in them include       - Leafy green vegetables    - Fruits    - Dried beans, peas, and nuts    - Enriched breads, cereals and other grain products       If you don't get enough folic acid from the foods you eat, you can also take it as a dietary supplement.    NIH: National Institutes of Health Office of Dietary Supplements


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[User] What are the symptoms of Book syndrome ?

[Assistant] What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the hair. Early whitening of the hair was the most constant symptom, being found in every affected family member. The age of onset of this symptom ranged from age 6 to age 23. In some cases, there was whitening of hair on other parts of the body such as the armipits, genital hair, and eyebrows. Two-thirds of the affected people had an abnormality of the sweat glands. In the isolated case, additional features that were reported include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). The Human Phenotype Ontology provides the following list of signs and symptoms for Book 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) Premature graying of hair 90% Short palm 90% Abnormality of the eyebrow 50% Abnormality of the fingernails 50% Abnormality of the palate 50% Single transverse palmar crease 50% Autosomal dominant inheritance - Hypodontia - Palmoplantar hyperhidrosis - 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 Penile Cancer ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - The stage of the cancer.    - The location and size of the tumor.    - Whether the cancer has just been diagnosed or has recurred (come back).


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[User] Is congenital hyperinsulinism inherited ?

[Assistant] Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. The focal form of congenital hyperinsulinism occurs when only some of the beta cells over-secrete insulin.  Most often, the diffuse form of congenital hyperinsulinism 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.  Less frequently, the diffuse form is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  The inheritance of the focal form of congenital hyperinsulinism is more complex. For most genes, both copies are turned on (active) in all cells, but for a small subset of genes, one of the two copies is turned off (inactive). Most people with the focal form of this condition inherit one copy of the mutated, inactive gene from their unaffected father. During embryonic development, a mutation occurs in the other, active copy of the gene. This second mutation is found within only some cells in the pancreas. As a result, some pancreatic beta cells have abnormal insulin secretion, while other beta cells function normally.


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[User] What are the treatments for arginine:glycine amidinotransferase deficiency ?

[Assistant] These resources address the diagnosis or management of arginine:glycine amidinotransferase deficiency:  - Gene Review: Gene Review: Creatine Deficiency Syndromes  - Genetic Testing Registry: Arginine:glycine amidinotransferase deficiency   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 the outlook for Back Pain ?

[Assistant] Most patients with back pain recover without residual functional loss, but individuals should contact a doctor if there is not a noticeable reduction in pain and inflammation after 72 hours of self-care. Recurring back pain resulting from improper body mechanics or other nontraumatic causes is often preventable. Engaging in exercises that don't jolt or strain the back, maintaining correct posture, and lifting objects properly can help prevent injuries. Many work-related injuries are caused or aggravated by stressors such as heavy lifting, vibration, repetitive motion, and awkward posture. Applying ergonomic principles  designing furniture and tools to protect the body from injury  at home and in the workplace can greatly reduce the risk of back injury and help maintain a healthy back.


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[User] What is (are) Galactosialidosis ?

[Assistant] Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.


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[User] What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ?

[Assistant]
MODY is a monogenic form of diabetes that usually first occurs during adolescence or early adulthood. However, MODY sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of the pancreas to produce insulin. This process leads to the high blood glucose levels characteristic of diabetes and, in time, may damage body tissues, particularly the eyes, kidneys, nerves, and blood vessels. MODY accounts for about 1 to 5 percent of all cases of diabetes in the United States. Family members of people with MODY are at greatly increased risk for the condition.

People with MODY may have only mild or no symptoms of diabetes and their hyperglycemia may only be discovered during routine blood tests. MODY may be confused with type 1 or type 2 diabetes. People with MODY are generally not overweight and do not have other risk factors for type 2 diabetes, such as high blood pressure or abnormal blood fat levels. While both type 2 diabetes and MODY can run in families, people with MODY typically have a family history of diabetes in multiple successive generations, meaning that MODY is present in a grandparent, a parent, and a child. Unlike people with type 1 diabetes who always require insulin, people with MODY can often be treated with oral diabetes medications. Treatment varies depending on the genetic mutation that has caused the MODY. More information about each type of MODY is provided in the appendix.


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[User] What are the genetic changes related to hypochondrogenesis ?

[Assistant] Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.


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[User] What is (are) Hypopharyngeal Cancer ?

[Assistant]
Key Points
                    - Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx.    - Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer.     - Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain.     - Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx.
                    The hypopharynx is the bottom part of the pharynx (throat). The pharynx is a hollow tube about 5 inches long that starts behind the nose, goes down the neck, and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus.      Most hypopharyngeal cancers form in squamous cells, the thin, flat cells lining the inside of the hypopharynx. The hypopharynx has 3 different areas. Cancer may be found in 1 or more of these areas.   Hypopharyngeal cancer is a type of head and neck cancer.


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[User] What are the symptoms of Familial prostate cancer ?

[Assistant] What are the signs and symptoms of Familial prostate cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial prostate cancer. 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 - Neoplasm - Prostate cancer - 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 Parasites - Loiasis ?

[Assistant]
In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways:

   - Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye
   - Identification of an adult worm in the eye by a health care provider
   - Identification of the microfilariae on a blood smear made from blood taken from the patient between 10AM and 2PM
   - Identification of antibodies against L. loa on specialized blood test

Diagnosis of loiasis can be difficult, especially in light infections where there are very few microfilariae in the blood. The specialized blood test is not widely available in the United States. A positive antibody blood test in someone with no symptoms means only that the person was infected sometime in his/her life. It does not mean that the person still has living parasites in his/her body.


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[User] What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?

[Assistant] What causes megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome? The cause of MPPH syndrome is unknown. Infection during pregnancy or fetal accident is thought to be unlikely.


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[User] What is (are) glycogen storage disease type IV ?

[Assistant] Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.  The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles.  The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months.  The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood.  The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms.  The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.


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[User] What are the genetic changes related to horizontal gaze palsy with progressive scoliosis ?

[Assistant] HGPPS is caused by mutations in the ROBO3 gene. This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain. These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which transmit information about sensory input (such as touch, pain, and temperature). For the brain and the body to communicate effectively, these nerve pathways must cross from one side of the body to the other in the brainstem, a region that connects the upper parts of the brain with the spinal cord.  The ROBO3 protein plays a critical role in ensuring that motor and sensory nerve pathways cross over in the brainstem. In people with HGPPS, these pathways do not cross over, but stay on the same side of the body. Researchers believe that this miswiring in the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder. The cause of progressive scoliosis in HGPPS is unclear. Researchers are working to determine why the effects of ROBO3 mutations appear to be limited to horizontal eye movement and scoliosis.


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[User] What are the genetic changes related to succinate-CoA ligase deficiency ?

[Assistant] Succinate-CoA ligase deficiency results from mutations in the SUCLA2 or SUCLG1 gene. SUCLG1 gene mutations can cause fatal infantile lactic acidosis, while mutations in either gene can cause the somewhat less severe form of the condition.  The SUCLA2 and SUCLG1 genes each provide instructions for making one part (subunit) of an enzyme called succinate-CoA ligase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Succinate-CoA ligase is involved in producing and maintaining the building blocks of mitochondrial DNA.  Mutations in either the SUCLA2 or SUCLG1 gene disrupt the normal function of succinate-CoA ligase. A shortage (deficiency) of this enzyme leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to hypotonia, muscle weakness, and the other characteristic features of succinate-CoA ligase deficiency.


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[User] What is (are) Paget's Disease of Bone ?

[Assistant] Paget's disease of bone is a disease that causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. The new bone is larger and weaker than normal bone.


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[User] What are the treatments for Motor Neuron Diseases ?

[Assistant]
There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. Food and Drug Administration to treat ALS, prolongs life by 2-3 months but does not relieve symptoms. Other medicines that may help reduce symptoms include muscle relaxants such as baclofen, tizanidine, and the benzodiazepines for spasticity; glycopyrrolate and atropine to treat excessive saliva; and anticonvulsants and nonsteroidal anti-inflammatory drugs to relieve pain. Panic attacks can be treated with benzodiazepines. Some patients may require stronger medicines such as morphine to cope with musculoskeletal abnormalities or pain in later stages of the disorders, and opiates are used to provide comfort care in terminal stages of the disease.

Physical and speech therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, slow muscle weakness and atrophy, and cope with swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs help some patients retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength.


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[User] What are the genetic changes related to pantothenate kinase-associated neurodegeneration ?

[Assistant] Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration.  The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule called coenzyme A. Found in all living cells, coenzyme A is essential for the body's production of energy from carbohydrates, fats, and some protein building blocks (amino acids).  Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme. A lack of functional pantothenate kinase 2 disrupts the production of coenzyme A and allows potentially harmful compounds to build up in the brain. This buildup leads to swelling and tissue damage, and allows iron to accumulate abnormally in certain parts of the brain. Researchers have not determined how these changes result in the specific features of pantothenate kinase-associated neurodegeneration. Because pantothenate kinase 2 functions in mitochondria, the signs and symptoms of this condition may be related to impaired energy production.


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[User] What are the genetic changes related to Meier-Gorlin syndrome ?

[Assistant] Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.  Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.


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[User] What are the treatments for Lung Cancer ?

[Assistant] - Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. - Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area.


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[User] What are the treatments for Congenital Myopathy ?

[Assistant] Currently, only central core disease has an effective treatment (see above). There are no known cures for any of these disorders. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy.


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[User] What is (are) Hemochromatosis ?

[Assistant] Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance: Hemochromotosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.


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[User] What are the genetic changes related to activated PI3K-delta syndrome ?

[Assistant] Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. The version of PI3K containing the p110 subunit, called PI3K-delta, is specifically found in white blood cells, including B cells and T cells. PI3K-delta signaling is involved in the growth and division (proliferation) of white blood cells, and it helps direct B cells and T cells to mature (differentiate) into different types, each of which has a distinct function in the immune system.  PIK3CD gene mutations involved in activated PI3K-delta syndrome lead to production of an altered p110 protein. A PI3K-delta enzyme containing the altered subunit is abnormally turned on (activated). Studies indicate that overactive PI3K-delta signaling alters the differentiation of B cells and T cells, leading to production of cells that cannot respond to infections and that die earlier than usual. Lack of functioning B cells and T cells makes it difficult for people with this disorder to fight off bacterial and viral infections. Overactivation of PI3K-delta signaling can also stimulate abnormal proliferation of white blood cells, leading to lymphadenopathy and nodular lymphoid hyperplasia in some affected individuals. An increase in B cell proliferation in combination with reduced immune system function may contribute to development of B-cell lymphoma.


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[User] How to diagnose Wolfram syndrome ?

[Assistant] How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


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[User] How many people are affected by Ehlers-Danlos syndrome ?

[Assistant] Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people.  Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and about 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people.


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[User] What is (are) Anxiety Disorders ?

[Assistant] Cognitive behavioral therapy (CBT) is a type of psychotherapy that is very useful in treating anxiety disorders. It can help people change the thinking patterns that support their fears and change the way they react to anxiety-provoking situations. For example, cognitive behavioral therapy can help people with panic disorder learn that their panic attacks are not really heart attacks and help people with social phobia learn how to overcome the belief that others are always watching and judging them. When people are ready to confront their fears, they are shown how to use exposure techniques to desensitize themselves to situations that trigger their anxieties.


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[User] How many people are affected by congenital afibrinogenemia ?

[Assistant] Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns.


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[User] What are the treatments for Graves' Disease ?

[Assistant]
People with Graves disease have three treatment options: radioiodine therapy, medications, and thyroid surgery. Radioiodine therapy is the most common treatment for Graves disease in the United States. Graves disease is often diagnosed and treated by an endocrinologista doctor who specializes in the bodys hormone- secreting glands.

Radioiodine Therapy

In radioiodine therapy, patients take radioactive iodine-131 by mouth. Because the thyroid gland collects iodine to make thyroid hormone, it will collect the radioactive iodine from the bloodstream in the same way. Iodine-131stronger than the radioactive iodine used in diagnostic testsgradually destroys the cells that make up the thyroid gland but does not affect other body tissues.

Many health care providers use a large enough dose of iodine-131 to shut down the thyroid completely, but some prefer smaller doses to try to bring hormone production into the normal range. More than one round of radioiodine therapy may be needed. Results take time and people undergoing this treatment may not notice improvement in symptoms for several weeks or months.

People with GO should talk with a health care provider about any risks associated with radioactive iodine treatments. Several studies suggest radioiodine therapy can worsen GO in some people. Other treatments, such as prescription steroids, may prevent this complication.

Although iodine-131 is not known to cause birth defects or infertility, radioiodine therapy is not used in pregnant women or women who are breastfeeding. Radioactive iodine can be harmful to the fetus thyroid and can be passed from mother to child in breast milk. Experts recommend that women wait a year after treatment before becoming pregnant.

Almost everyone who receives radioactive iodine treatment eventually develops hypothyroidism, which occurs when the thyroid does not make enough thyroid hormone. People with hypothyroidism must take synthetic thyroid hormone, a medication that replaces their natural thyroid hormone.

Medications

Beta blockers. Health care providers may prescribe a medication called a beta blocker to reduce many of the symptoms of hyperthyroidism, such as tremors, rapid heartbeat, and nervousness. But beta blockers do not stop thyroid hormone production.

Anti-thyroid medications. Health care providers sometimes prescribe anti-thyroid medications as the only treatment for Graves disease. Anti-thyroid medications interfere with thyroid hormone production but dont usually have permanent results. Use of these medications requires frequent monitoring by a health care provider. More often, anti-thyroid medications are used to pretreat patients before surgery or radioiodine therapy, or they are used as supplemental treatment after radioiodine therapy.

Anti-thyroid medications can cause side effects in some people, including

- allergic reactions such as rashes and itching  - a decrease in the number of white blood cells in the body, which can lower a persons resistance to infection  - liver failure, in rare cases

In the United States, health care providers prescribe the anti-thyroid medication methimazole (Tapazole, Northyx) for most types of hyperthyroidism.

Anti-thyroid medications and pregnancy. Because pregnant and breastfeeding women cannot receive radioiodine therapy, they are usually treated with an anti-thyroid medication instead. However, experts agree that women in their first trimester of pregnancy should probably not take methimazole due to the rare occurrence of damage to the fetus.

Another anti-thyroid medication, propylthiouracil (PTU), is available for women in this stage of pregnancy or for women who are allergic to or intolerant of methimazole and have no other treatment options. Health care providers may prescribe PTU for the first trimester of pregnancy and switch to methimazole for the second and third trimesters.

Some women are able to stop taking anti-thyroid medications in the last 4 to 8 weeks of pregnancy due to the remission of hyperthyroidism that occurs during pregnancy. However, these women should continue to be monitored for recurrence of thyroid problems following delivery.

Studies have shown that mothers taking anti-thyroid medications may safely breastfeed. However, they should take only moderate doses, less than 1020 milligrams daily, of the anti-thyroid medication methimazole. Doses should be divided and taken after feedings, and the infants should be monitored for side effects.2

Women requiring higher doses of the anti-thyroid medication to control hyperthyroidism should not breastfeed.

2Ogunyemi DA. Autoimmune thyroid disease and pregnancy. emedicine website. emedicine.medscape.com/article/261913-overview. Updated March 12, 2012. Accessed April 10, 2012.

Stop your anti-thyroid medication and call your health care provider right away if you develop any of the following while taking anti-thyroid medications:   - fatigue   - weakness   - vague abdominal pain   - loss of appetite   - skin rash or itching   - easy bruising   - yellowing of the skin or whites of the eyes, called jaundice   - persistent sore throat   - fever

Thyroid Surgery

Surgery is the least-used option for treating Graves disease. Sometimes surgery may be used to treat

- pregnant women who cannot tolerate anti-thyroid medications  - people suspected of having thyroid cancer, though Graves disease does not cause cancer  - people for whom other forms of treatment are not successful

Before surgery, the health care provider may prescribe anti-thyroid medications to temporarily bring a patients thyroid hormone levels into the normal range. This presurgical treatment prevents a condition called thyroid storma sudden, severe worsening of symptomsthat can occur when hyperthyroid patients have general anesthesia.

When surgery is used, many health care providers recommend the entire thyroid be removed to eliminate the chance that hyperthyroidism will return. If the entire thyroid is removed, lifelong thyroid hormone medication is necessary.

Although uncommon, certain problems can occur in thyroid surgery. The parathyroid glands can be damaged because they are located very close to the thyroid. These glands help control calcium and phosphorous levels in the body. Damage to the laryngeal nerve, also located close to the thyroid, can lead to voice changes or breathing problems.

But when surgery is performed by an experienced surgeon, less than 1 percent of patients have permanent complications.1 People who need help finding a surgeon can contact one of the organizations listed under For More Information.

Eye Care

The eye problems associated with Graves disease may not improve following thyroid treatment, so the two problems are often treated separately.

Eye drops can relieve dry, gritty, irritated eyesthe most common of the milder symptoms. If pain and swelling occur, health care providers may prescribe a steroid such as prednisone. Other medications that suppress the immune response may also provide relief.

Special lenses for glasses can help with light sensitivity and double vision. People with eye symptoms may be advised to sleep with their head elevated to reduce eyelid swelling. If the eyelids do not fully close, taping them shut at night can help prevent dry eyes.

In more severe cases, external radiation may be applied to the eyes to reduce inflammation. Like other types of radiation treatment, the benefits are not immediate; most people feel relief from symptoms 1 to 2 months after treatment.

Surgery may be used to improve bulging of the eyes and correct the vision changes caused by pressure on the optic nerve. A procedure called orbital decompression makes the eye socket bigger and gives the eye room to sink back to a more normal position. Eyelid surgery can return retracted eyelids to their normal position.


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[User] What are the treatments for Sydenham Chorea ?

[Assistant] There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. Antiepileptic medications, such as valproic acid, are often prescribed. Doctors also recommend that children who have had SD take penicillin over the course of the next 10 years to prevent additional manifestations of rheumatic fever.


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[User] Is Usher syndrome, type 1C inherited ?

[Assistant] How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.


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[User] What is (are) Bell's palsy ?

[Assistant] Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, impairment of taste, and excessive tearing in the eye. While the exact cause is unknown, many researchers believe that a virus may lead to swelling of the 7th cranial nerve. Steroids, such as prednisone, may reduce the inflammation and swelling. Other medications used to treat Bell's palsy include acyclovir (to fight viral infections) and aspirin, acetaminophen, or ibuprofen (to relieve pain). Physical therapy, facial massage and acupuncture have also been used.


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[User] What are the symptoms of McCune Albright syndrome ?

[Assistant] What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by softer, fibrous tissue. Polyostotic means the abnormal areas may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When it occurs in skull and jaw it can result in uneven growth of the face. This may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) Cancer: Bone lesions may become cancerous, but this happens in less than 1% of people with MAS. Endocrine symptoms may include: Early puberty: Girls with MAS usually reach puberty early. They often have menstrual bleeding by age 2 (as early as 4-6 months in some), many years before characteristics such as breast enlargement and pubic hair growth are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone produced by cysts that develop in one of the ovaries. Less commonly, boys with MAS may also experience early puberty. Enlarged thyroid gland: The thyroid gland may become enlarged (a condition called a goiter) or develop masses called nodules. About half of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. Increased production of growth hormone: The pituitary gland may produce too much growth hormone. This can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Cushings syndrome: Rarely, individuals with MAS produce too much of the hormone cortisol in the adrenal glands. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. Skin symptoms may include: Cafe-au-lait spots: Individuals with MAS usually have light brown patches of skin called cafe-au-lait spots. Like the bone lesions, these spots often appear on only one side of the body. Most children have these spots from birth and the spots rarely grow. There are usually not any medical problems caused by these skin changes. The Human Phenotype Ontology provides the following list of signs and symptoms for McCune Albright syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Cafe-au-lait spot 90% Generalized hyperpigmentation 90% Hypophosphatemia 90% Precocious puberty 90% Recurrent fractures 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Abnormality of coagulation 7.5% Abnormality of dental enamel 7.5% Abnormality of the palate 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Elevated hepatic transaminases 7.5% Goiter 7.5% Hearing abnormality 7.5% Hypercortisolism 7.5% Hyperparathyroidism 7.5% Hyperthyroidism 7.5% Kyphosis 7.5% Long penis 7.5% Macrocephaly 7.5% Macroorchidism 7.5% Mandibular prognathia 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Optic atrophy 7.5% Polycystic ovaries 7.5% Sarcoma 7.5% Tall stature 7.5% Testicular neoplasm 7.5% Blindness - Craniofacial hyperostosis - Facial asymmetry - Growth hormone excess - Hearing impairment - Intestinal polyposis - Large cafe-au-lait macules with irregular margins - Pathologic fracture - Phenotypic variability - Pituitary adenoma - Polyostotic fibrous dysplasia - Prolactin excess - Somatic mosaicism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Spina Bifida ?

[Assistant] Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).


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[User] Who is at risk for Wilms Tumor and Other Childhood Kidney Tumors? ?

[Assistant]
Having certain genetic syndromes or other conditions can increase the risk of Wilms tumor.
                    Anything that increases the 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 doesn't mean that you will not get cancer. Talk to your child's doctor if you think your child may be at risk.    Wilms tumor may be part of a genetic syndrome that affects growth or development. A genetic syndrome is a set of signs and symptoms or conditions that occur together and is caused by certain changes in the genes. Certain conditions can also increase a child's risk of developing Wilms tumor. These and other genetic syndromes and conditions have been linked to Wilms tumor:         -  WAGR syndrome (Wilms tumor, aniridia, abnormal genitourinary system, and mental retardation).     -  Denys-Drash syndrome (abnormal genitourinary system).    - Frasier syndrome (abnormal genitourinary system).    -  Beckwith-Wiedemann syndrome (abnormally large growth of one side of the body or a body part, large tongue, umbilical hernia at birth, and abnormal genitourinary system).     - A family history of Wilms tumor.    - Aniridia (the iris, the colored part of the eye, is missing).    - Isolated hemihyperplasia (abnormally large growth of one side of the body or a body part).    -  Urinary tract problems such as cryptorchidism or hypospadias.

                    Having certain conditions may increase the risk of renal cell cancer.
                    Renal cell cancer may be related to the following conditions:         -  Von Hippel-Lindau disease (an inherited condition that causes abnormal growth of blood vessels). Children with Von Hippel-Lindau disease should be checked yearly for renal cell cancer with an ultrasound of the abdomen or an MRI (magnetic resonance imaging) beginning at age 8 to 11 years.     -  Tuberous sclerosis (an inherited disease marked by noncancerous fatty cysts in the kidney).    -  Familial renal cell cancer (an inherited condition that occurs when certain changes in the genes that cause kidney cancer are passed down from the parent to the child).    - Renal medullary cancer (a rare kidney cancer that grows and spreads quickly).    -  Hereditary leiomyomatosis (an inherited disorder that increases the risk of having cancer of the kidney, skin, and uterus).        Prior chemotherapy or radiation therapy for a childhood cancer, such as neuroblastoma, soft tissue sarcoma, leukemia, or Wilms tumor may also increase the risk of renal cell cancer. See the Second Cancers section in the PDQ summary about Late Effects of Treatment for Childhood Cancer for more information.


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[User] How to diagnose Coats disease ?

[Assistant] Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1. Genetic testing is often an option for people affected by one of these conditions. How is Coats disease diagnosed? A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.


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[User] What is (are) Empty Sella Syndrome ?

[Assistant] Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests for pituitary disorders. ESS occurs n up to 25 percent of the population.An individual with ESS may have no symptoms or may have symptoms resulting from partial or complete loss of pituitary function (including headaches, low sex drive, and impotence).There are two types of ESS: primary and secondary. Primary ESS happens when a small anatomical defect above the pituitary gland allows spinal fluid to partially or completely fill the sella turcica. This causes the gland to flatten out along the interior walls of the sella turcica cavity. Individuals with primary ESS may have high levels of the hormone prolactin, which can interfere with the normal function of the testicles and ovaries. Primary ESS is most common in adults and women, and is often associated with obesity and high blood pressure. In some instances the pituitary gland may be smaller than usual; this may be due to a condition called pseudotumor cerebri (which means "false brain tumor," brought on by high pressure within the skull), In rare instances this high fluid pressure can be associated with drainage of spinal fluid through the nose. Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS can sometimes have symptoms that reflect the loss of pituitary functions, such as the ceasing of menstrual periods, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure.


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[User] What causes Nonalcoholic Steatohepatitis ?

[Assistant]
Although NASH has become more common, its underlying cause is still not clear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes, but not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. Thus, NASH is not simply obesity that affects the liver.

While the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates:

- insulin resistance  - release of toxic inflammatory proteins by fat cells (cytokines)  - oxidative stress (deterioration of cells) inside liver cells


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[User] What is (are) BRCA2 hereditary breast and ovarian cancer syndrome ?

[Assistant] BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries.


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[User] What are the treatments for gastrointestinal stromal tumor ?

[Assistant] These resources address the diagnosis or management of gastrointestinal stromal tumor:  - American Cancer Society: Treating Gastrointestinal Stromal Tumor (GIST)  - Cancer.Net: Gastrointestinal Stromal Tumor--Diagnosis  - Genetic Testing Registry: Gastrointestinal stromal tumor   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the genetic changes related to hidradenitis suppurativa ?

[Assistant] In most cases, the cause of hidradenitis suppurativa is unknown. The condition probably results from a combination of genetic and environmental factors. Originally, researchers believed that the disorder was caused by the blockage of specialized sweat glands called apocrine glands. However, recent studies have shown that the condition actually begins with a blockage of hair follicles in areas of the body that also contain a high concentration of apocrine glands (such as the armpits and groin). The blocked hair follicles trap bacteria, leading to inflammation and rupture. It remains unclear what initially causes the follicles to become blocked and why the nodules tend to recur.  Genetic factors clearly play a role in causing hidradenitis suppurativa. Some cases have been found to result from mutations in the NCSTN, PSEN1, or PSENEN gene. The proteins produced from these genes are all components of a complex called gamma- (-) secretase. This complex cuts apart (cleaves) many different proteins, which is an important step in several chemical signaling pathways. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function. Studies suggest that mutations in the NCSTN, PSEN1, or PSENEN gene impair Notch signaling in hair follicles. Although little is known about the mechanism, abnormal Notch signaling appears to promote the development of nodules and lead to inflammation in the skin. Researchers are working to determine whether additional genes, particularly those that provide instructions for making other -secretase components, are also associated with hidradenitis suppurativa.  Researchers have studied many other possible risk factors for hidradenitis suppurativa. Obesity and smoking both appear to increase the risk of the disorder, and obesity is also associated with increased severity of signs and symptoms in affected individuals. Studies suggest that neither abnormal immune system function nor hormonal factors play a significant role in causing the disease. Other factors that were mistakenly thought to be associated with this condition include poor hygiene, the use of underarm deodorants and antiperspirants, and shaving or the use of depilatory products to remove hair.


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[User] What are the treatments for Iniencephaly ?

[Assistant] There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. Numerous studies have demonstrated that mothers can reduce the risk of neural tube birth defects such as iniencephaly by up to 70 percent with daily supplements of at least 4 mg of folic acid. Pregnant women should avoid taking antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, which have been shown to be associated with an increased risk of neural tube defects. Maternal obesity and diabetes are also known to increase the risk for these disorders.


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[User] What is (are) inherited thyroxine-binding globulin deficiency ?

[Assistant] Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems.  Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced.  Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones.  Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments.


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[User] How many people are affected by fumarase deficiency ?

[Assistant] Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States.


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[User] What is (are) Impetigo ?

[Assistant] Impetigo is a skin infection caused by bacteria. It is usually caused by staphylococcal (staph) bacteria, but it can also be caused by streptococcal (strep) bacteria. It is most common in children between the ages of two and six. It usually starts when bacteria get into a break in the skin, such as a cut, scratch, or insect bite.     Symptoms start with red or pimple-like sores surrounded by red skin. These sores can be anywhere, but usually they occur on your face, arms and legs. The sores fill with pus, then break open after a few days and form a thick crust. They are often itchy, but scratching them can spread the sores.     Impetigo can spread by contact with sores or nasal discharge from an infected person. You can treat impetigo with antibiotics.     NIH: National Institute of Allergy and Infectious Diseases


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[User] What are the treatments for 17-beta hydroxysteroid dehydrogenase 3 deficiency ?

[Assistant] These resources address the diagnosis or management of 17-beta hydroxysteroid dehydrogenase 3 deficiency:  - Genetic Testing Registry: Testosterone 17-beta-dehydrogenase deficiency  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Intersex   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of Verloove Vanhorick Brubakk syndrome ?

[Assistant] What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk 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) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the sacrum 90% Atresia of the external auditory canal 90% Cleft palate 90% Cryptorchidism 90% Limb undergrowth 90% Low-set, posteriorly rotated ears 90% Non-midline cleft lip 90% Tarsal synostosis 90% Abnormal localization of kidney 50% Finger syndactyly 50% Growth abnormality - Syndactyly - Truncus arteriosus - 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 Pterygium colli mental retardation digital anomalies ?

[Assistant] What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. 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 calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - 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 20p12.3 microdeletion syndrome ?

[Assistant] What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion 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) Cognitive impairment 90% Hypertelorism 90% Arrhythmia 50% Epicanthus 50% Hypoplasia of the zygomatic bone 50% Macrocephaly 50% Narrow mouth 50% Short stature 50% Abnormality of thumb phalanx 7.5% Atria septal defect 7.5% Full cheeks 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Pectus carinatum 7.5% Preaxial foot polydactyly 7.5% Seizures 7.5% Thickened helices 7.5% Ventriculomegaly 7.5% Wide nasal bridge 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 are the symptoms of Infantile myofibromatosis ?

[Assistant] What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. 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 metaphyses 90% Abnormality of the musculature 90% Bone cyst 90% Neoplasm of the skeletal system 90% Sarcoma 90% Abnormality of the skull 50% Abnormality of the thorax 50% Chondrocalcinosis 50% Gingival overgrowth 50% Neoplasm of the lung 50% Abnormality of the eye 7.5% Abnormality of the kidney 7.5% Abnormality of the sacrum 7.5% Benign neoplasm of the central nervous system 7.5% Hemiplegia/hemiparesis 7.5% Hypercalcemia 7.5% Intestinal obstruction 7.5% Irregular hyperpigmentation 7.5% Limitation of joint mobility 7.5% Neoplasm of the pancreas 7.5% Osteolysis 7.5% Skin ulcer 7.5% Tracheoesophageal fistula 7.5% Abnormality of connective tissue - Autosomal dominant inheritance - Fibroma - 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 Joubert Syndrome ?

[Assistant] The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.


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[User] How many people are affected by primary sclerosing cholangitis ?

[Assistant] An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide.


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[User] What causes Lung Cancer ?

[Assistant] Tobacco Products and Cancer Using tobacco products has been shown to cause cancer. In fact, smoking tobacco, using smokeless tobacco, and being exposed regularly to secondhand tobacco smoke are responsible for a large number of cancer deaths in the U.S. each year. Cigarette Smoking Causes Lung Cancer Cigarette smoking is the number one cause of lung cancer. Scientists have reported widely on the link between cancer and smoking since the 1960s. Since then, study after study has provided more proof that cigarette smoking is the primary cause of lung cancer. Before cigarette smoking became popular after World War I, doctors rarely, if ever, saw patients with lung cancer. But today, lung cancer is the leading cause of death by cancer. Over 85 percent of people with lung cancer developed it because they smoked cigarettes. If You Smoke If you smoke cigarettes, you are at much higher risk for lung cancer than a person who has never smoked. The risk of dying from lung cancer is 23 times higher for men who smoke and 13 times higher for women who smoke than for people who have never smoked. Lung cancer can affect young and old alike.  Stopping smoking greatly reduces your risk for developing lung cancer. After you stop, your risk levels off. Ten years after the last cigarette, the risk of dying from lung cancer drops by 50 percent -- which does not mean, however, that risk is eliminated. (Watch the videos on this page to learn more about lung cancer, smoking and older adults. To enlarge the videos, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Smoking cigars and pipes also puts you at risk for lung cancer. Cigar and pipe smokers have a higher risk of lung cancer than nonsmokers. Even cigar and pipe smokers who do not inhale are at increased risk for lung, mouth, and other types of cancer. The likelihood that a smoker will develop lung cancer is related to the age smoking began; how long the person smoked; the number of cigarettes, pipes, or cigars smoked per day; and how deeply the smoker inhaled.  Learn about lung cancer prevention. Other Factors That Increase Your Risk - Many studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke.   - Exposure to radon can put a person at risk for lung cancer, too. People who work in mines may be exposed to this invisible, odorless, and radioactive gas that occurs naturally in soil and rocks. It is also found in houses in some parts of the country. A kit available at most hardware stores allows homeowners to measure radon levels in their homes.   - Another substance that can contribute to lung cancer is asbestos. Asbestos has been used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, although products with asbestos have been largely phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, damaging cells and increasing the risk for lung cancer.  Many studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke. Exposure to radon can put a person at risk for lung cancer, too. People who work in mines may be exposed to this invisible, odorless, and radioactive gas that occurs naturally in soil and rocks. It is also found in houses in some parts of the country. A kit available at most hardware stores allows homeowners to measure radon levels in their homes. Another substance that can contribute to lung cancer is asbestos. Asbestos has been used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, although products with asbestos have been largely phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, damaging cells and increasing the risk for lung cancer. It's Never Too Late To Quit  Researchers continue to study the causes of lung cancer and to search for ways to prevent it. We already know that the best way to prevent lung cancer is to quit or never start smoking. The sooner a person quits smoking the better. Even if you have been smoking for many years, it's never too late to benefit from quitting. Get Free Help To Quit Smoking - Each U.S. state and territory has a free quit line to provide you with information and resources to help you quit smoking. To reach the quit line in your area, dial toll-free, 1-800-QUIT-NOW (1-800-784-8669). Each U.S. state and territory has a free quit line to provide you with information and resources to help you quit smoking. To reach the quit line in your area, dial toll-free, 1-800-QUIT-NOW (1-800-784-8669). - Talk with a smoking cessation counselor from the National Cancer Institute (NCI) for help quitting and for answers to smoking-related questions in English or Spanish. Call toll free within the United States, Monday through Friday 8:00 a.m. to 8:00 p.m. Eastern Time.1-877-44U-QUIT (1-877-448-7848) Talk with a smoking cessation counselor from the National Cancer Institute (NCI) for help quitting and for answers to smoking-related questions in English or Spanish. Call toll free within the United States, Monday through Friday 8:00 a.m. to 8:00 p.m. Eastern Time.1-877-44U-QUIT (1-877-448-7848) - Get free information and advice about quitting smoking through a confidential online text chat with an information specialist from the National Cancer Institute's Cancer Information Service. Visit LiveHelp, available Monday through Friday, 8:00 a.m. to 11:00 p.m. Eastern Time. Get free information and advice about quitting smoking through a confidential online text chat with an information specialist from the National Cancer Institute's Cancer Information Service. Visit LiveHelp, available Monday through Friday, 8:00 a.m. to 11:00 p.m. Eastern Time. You can also get help to quit smoking at these websites. - Smokefree.gov.  - Smokefree Women  Smokefree.gov. Smokefree Women For adults 50 and older, check out Quitting Smoking for Older Adults.


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

[User] What is (are) West Nile Virus ?

[Assistant] West Nile virus (WNV) is an infectious disease that first appeared in the United States in 1999. Infected mosquitoes spread the virus that causes it. People who get WNV usually have no symptoms or mild symptoms. The symptoms include a fever, headache, body aches, skin rash, and swollen lymph glands. They can last a few days to several weeks, and usually go away on their own.    If West Nile virus enters the brain, however, it can be life-threatening. It may cause inflammation of the brain, called encephalitis, or inflammation of the tissue that surrounds the brain and spinal cord, called meningitis. A physical exam, health history and laboratory tests can diagnose it.    Older people and those with weakened immune systems are most at risk. There are no specific vaccines or treatments for human WNV disease. The best way to avoid WNV is to prevent mosquito bites:       - Use insect repellent    - Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets or barrels    - Stay indoors between dusk and dawn, when mosquitoes are most active    - Use screens on windows to keep mosquitoes out       NIH: National Institute of Allergy and Infectious Diseases


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

[Assistant]
Crohn's disease is a chronic, or long lasting, disease that causes inflammationirritation or swellingin the gastrointestinal (GI) tract. Most commonly, Crohn's affects the small intestine and the beginning of the large intestine. However, the disease can affect any part of the GI tract, from the mouth to the anus.

Crohn's disease is a chronic inflammatory disease of the GI tract, called inflammatory bowel disease (IBD). Ulcerative colitis and microscopic colitis are the other common IBDs. More information is provided in the NIDDK health topics, Ulcerative Colitis and Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis.

Crohn's disease most often begins gradually and can become worse over time. Most people have periods of remissiontimes when symptoms disappearthat can last for weeks or years.

Some people with Crohn's disease receive care from a gastroenterologist, a doctor who specializes in digestive diseases.


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[User] what research (or clinical trials) is being done for Atrial Fibrillation and Stroke ?

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS) is the leading Federal agency directing and funding research relevant to AF and stroke prevention. The NINDS conducts basic and clinical research in its laboratories and clinics at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as AF that can increase the risk of stroke.


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[User] What is (are) hereditary myopathy with early respiratory failure ?

[Assistant] Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing.  The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. Among the earliest muscles affected in HMERF are the neck flexors, which are muscles at the front of the neck that help hold the head up. Other proximal muscles that become weak in people with HMERF include those of the hips, thighs, and upper arms. Some affected individuals have also reported weakness in muscles of the lower leg and foot called the dorsal foot extensors.  HMERF also causes severe weakness in muscles of the chest that are involved in breathing, particularly the diaphragm. This weakness leads to breathing problems and life-threatening respiratory failure.


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[User] How many people are affected by L1 syndrome ?

[Assistant] L1 syndrome is estimated to occur in 1 in 25,000 to 60,000 males. Females are rarely affected by this condition.


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[User] Is 21-hydroxylase deficiency inherited ?

[Assistant] How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. They have a 25 percent chance with each pregnancy of having a child affected by the disorder. The chance with each pregnancy of having an unaffected child who is a carrier of the disorder is 50 percent, and the chance that a child will not have the disorder and will not be a carrier is 25 percent. See the illustration below.


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[User] What is (are) campomelic dysplasia ?

[Assistant] Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.  The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.  Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries.  Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia.  Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.


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[User] What is (are) Stroke ?

[Assistant] Brain plasticity is the brain's ability to learn and change, allowing it to adapt to deficits and injury and to take over the functions of damaged cells. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. However, the brain's ability torewire the connections between its nerve cells allows it to compensate for lost functions.