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<s>[INST] Human: What is (are) Primary Ciliary Dyskinesia ? [/INST] Assistant: Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah). Cilia move together in wave-like motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles. If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. PCD mainly affects the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth. Sperm cells have structures that are like cilia. In men who have PCD, these structures also may not work well. This can cause fertility problems. "Fertility" refers to the ability to have children. Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.) Overview PCD is an inherited disease. "Inherited" means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved. Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and function. Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease. If a child inherits a faulty gene (or genes) from only one parent, he or she may be a "PCD carrier." Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children. The symptoms and severity of PCD vary from person to person. If you or your child has the disease, you may have serious sinus, ear, and/or lung infections. If the disease is mild, it may not show up until the teen or adult years. The symptoms and severity of PCD also vary over time. Sometimes you may have few symptoms. Other times, your symptoms may become more severe. Some people who have PCD have a condition called situs inversus (SI-tus in-VER-sus). This is a condition in which the internal organs (for example, the heart, stomach, spleen, liver, and gallbladder) are in opposite positions from where they normally are. A correct and early diagnosis of PCD is very important. It will allow you or your child to get the proper treatment to keep your airways and lungs as healthy as possible. An early diagnosis and proper treatment also can prevent or delay lung damage. Outlook Many people who have PCD have normal lifespans. However, about 25 percent of people who have the disease may develop respiratory failure, a life-threatening condition. A small number of people who have PCD need lung transplants. Scientists continue to study the faulty genes that cause PCD. Further studies of the disease will likely lead to earlier diagnoses, better treatments, and improved outcomes. </s>

<s>[INST] Human: What is the outlook for Myopathy ? [/INST] Assistant: The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal. </s>

<s>[INST] Human: Do you have information about End of Life Issues [/INST] Assistant: Summary : Planning for the end of life can be difficult. But by deciding what end-of-life care best suits your needs when you are healthy, you can help those close to you make the right choices when the time comes. End-of-life planning usually includes making choices about the following: - The goals of care (for example, whether to use certain medicines during the last days of life) - Where you want to spend your final days - Which treatments for end-of-life care you wish to receive - What type of palliative care and hospice care you wish to receive Advance directives can help make your wishes clear to your family and health care providers. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Pancreatic Cancer ? [/INST] Assistant: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. </s>

<s>[INST] Human: What are the symptoms of Hypochromic microcytic anemia with iron overload ? [/INST] Assistant: What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the liver - Anemia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What are the treatments for neurofibromatosis type 2 ? [/INST] Assistant: These resources address the diagnosis or management of neurofibromatosis type 2: - Boston Children's Hospital - Gene Review: Gene Review: Neurofibromatosis 2 - Genetic Testing Registry: Neurofibromatosis, type 2 - MedlinePlus Encyclopedia: Acoustic Neuroma - MedlinePlus Encyclopedia: Neurofibromatosis 2 - Neurofibromatosis Clinic, Massachusetts General Hospital 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 </s>

<s>[INST] Human: What are the symptoms of Disseminated peritoneal leiomyomatosis ? [/INST] Assistant: What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding Abnormally heavy bleeding during menstruation (menorrhagia) Constipation Intestinal obstruction DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason. </s>

<s>[INST] Human: Is Platelet storage pool deficiency inherited ? [/INST] Assistant: Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. </s>

<s>[INST] Human: Is ankylosing spondylitis inherited ? [/INST] Assistant: Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not mean that a person will develop the condition, even in families in which more than one family member has the disorder. For example, about 80 percent of children who inherit HLA-B27 from a parent with ankylosing spondylitis do not develop the disorder. </s>

<s>[INST] Human: What are the treatments for SYNGAP1-related intellectual disability ? [/INST] Assistant: These resources address the diagnosis or management of SYNGAP1-related intellectual disability: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Mental retardation, autosomal dominant 5 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 </s>

<s>[INST] Human: What is the outlook for Arteriovenous Malformation ? [/INST] Assistant: The greatest potential danger posed by AVMs is hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. Whenever an AVM is detected, the individual should be carefully and consistently monitored for any signs of instability that may indicate an increased risk of hemorrhage. Individuals who are treated require brain imaging afterwards to evaluate if the AVM has been completely removed or destroyed. The risk of hemorrhage remains if some of the AVM persists despite treatment. </s>

<s>[INST] Human: Is generalized arterial calcification of infancy inherited ? [/INST] Assistant: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>

<s>[INST] Human: How many people are affected by juvenile idiopathic arthritis ? [/INST] Assistant: The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic arthritis, which accounts for about half of all cases. For reasons that are unclear, females seem to be affected with juvenile idiopathic arthritis somewhat more frequently than males. However, in enthesitis-related juvenile idiopathic arthritis males are affected more often than females. The incidence of juvenile idiopathic arthritis varies across different populations and ethnic groups. </s>

<s>[INST] Human: How many people are affected by chorea-acanthocytosis ? [/INST] Assistant: It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis. </s>

<s>[INST] Human: What are the symptoms of Cervical hypertrichosis peripheral neuropathy ? [/INST] Assistant: What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. 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) Dandy-Walker malformation 90% EMG abnormality 90% Hypertrichosis 90% Osteomyelitis 50% Skin ulcer 50% Anterior cervical hypertrichosis - Autosomal recessive inheritance - Motor polyneuropathy - Sensory neuropathy - 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. </s>

<s>[INST] Human: What are the symptoms of Factor XIII deficiency ? [/INST] Assistant: What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, large cysts may form in the surrounding tissue that may destroy bone and cause peripheral nerve damage, usually in the thigh and buttocks areas. At birth, an infant with Factor XIII deficiency may bleed from the umbilical cord, which rarely occurs in other blood clotting disorders. The most serious hemorrhaging that can occur in Factor XIII deficiency is in the central nervous system (i.e., brain and spinal cord) following mild head trauma. This can occur in about 25 percent of affected individuals. In some cases, hemorrhaging may stop spontaneously without treatment. Females with Factor XIII deficiency who become pregnant are at high risk for miscarriage if they do not receive appropriate treatment. Men with this disorder may be sterile or have extremely low sperm counts. Replacing Factor XIII in these men does not correct sterility. Some of the less frequently seen symptoms are poor wound healing, excessive bleeding from wounds, blood blisters attached to the abdominal wall (retroperitoneal hematomas), and/or blood in the urine (hematuria).Some symptoms are seldom or never seen in people with Factor XIII deficiency, which may help to distinguish it from other bleeding disorders. These may include excessive blood loss during menstruation, hemorrhages within the eye, gastrointestinal bleeding, arthritis caused by an accumulation of blood in the joints, excessive bleeding after surgery, bleeding from mucous membranes, and/or tiny red spots on the skin. Factor XIII deficiency is not generally a threat to those who need surgery. The small amount of Factor XIII present in blood transfusions generally prevents bleeding. Excessive bleeding from wounds, abrasions, or even spontaneous abortions is not common unless a person with this disorder uses aspirin or similar medications. The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XIII deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal umbilical stump bleeding - Autosomal recessive inheritance - Bruising susceptibility - Congenital onset - Epistaxis - Intracranial hemorrhage - Joint hemorrhage - Prolonged bleeding after surgery - Reduced factor XIII activity - Spontaneous hematomas - 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. </s>

<s>[INST] Human: What to do for Causes of Diabetes ? [/INST] Assistant: - Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. - Insulin is a hormone made by beta cells in the pancreas. Insulin helps cells throughout the body absorb and use glucose for energy. If the body does not produce enough insulin or cannot use insulin effectively, glucose builds up in the blood instead of being absorbed by cells in the body, and the body is starved of energy. - Prediabetes is a condition in which blood glucose levels or A1C levels are higher than normal but not high enough to be diagnosed as diabetes. People with prediabetes can substantially reduce their risk of developing diabetes by losing weight and increasing physical activity. - The two main types of diabetes are type 1 diabetes and type 2 diabetes. Gestational diabetes is a third form of diabetes that develops only during pregnancy. - Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. - Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. - Scientists believe gestational diabetes is caused by the hormonal changes and metabolic demands of pregnancy together with genetic and environmental factors. Risk factors for gestational diabetes include being overweight and having a family history of diabetes. - Monogenic forms of diabetes are relatively uncommon and are caused by mutations in single genes that limit insulin production, quality, or action in the body. - Other types of diabetes are caused by diseases and injuries that damage the pancreas; certain chemical toxins and medications; infections; and other conditions. </s>

<s>[INST] Human: How many people are affected by dyskeratosis congenita ? [/INST] Assistant: The exact prevalence of dyskeratosis congenita is unknown. It is estimated to occur in approximately 1 in 1 million people. </s>

<s>[INST] Human: What are the symptoms of Neuropathy, distal hereditary motor, Jerash type ? [/INST] Assistant: What are the signs and symptoms of Neuropathy, distal hereditary motor, Jerash type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, distal hereditary motor, Jerash type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Split hand 5% Autosomal recessive inheritance - Babinski sign - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Pes cavus - Progressive - Spinal muscular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What causes Problems with Taste ? [/INST] Assistant: The most common causes of taste disorders are medications, infections, head trauma, and dental problems. Most people who have a problem with taste are taking certain medications or they have had a head or neck injury. Gum disease, dry mouth, and dentures can contribute to taste problems, too. Other causes are radiation therapy for head and neck cancers, smoking, and some surgeries. </s>

<s>[INST] Human: What are the genetic changes related to MyD88 deficiency ? [/INST] Assistant: MyD88 deficiency is caused by mutations in the MYD88 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection. The MyD88 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiation of inflammation to fight infection. This signaling pathway is part of the innate immune response. Mutations in the MYD88 gene lead to the production of a nonfunctional protein or no protein at all. The loss of functional MyD88 protein prevents the immune system from triggering inflammation in response to pathogens that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive. Researchers suggest that as the immune system matures, other systems compensate for the loss of MyD88 protein, accounting for the improvement in the condition that occurs by adolescence. </s>

<s>[INST] Human: What are the treatments for limb-girdle muscular dystrophy ? [/INST] Assistant: These resources address the diagnosis or management of limb-girdle muscular dystrophy: - Cleveland Clinic - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview - Genetic Testing Registry: Limb-girdle muscular dystrophy - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1B - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1C - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1E - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1F - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1G - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1H - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2A - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2B - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2D - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2E - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2F - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2G - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2J - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2L - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 - Johns Hopkins Medicine - LGMD-Diagnosis.org 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 </s>

<s>[INST] Human: What is (are) Schwartz Jampel syndrome type 1 ? [/INST] Assistant: Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). SJS1 can be divided into two subtypes differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. Individuals with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS1 is caused by mutations in the HSPG2 gene which makes a protein called perlecan. SJS1 is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for both type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as Botulinum toxin, and surgery. There is a more severe, distinct condition called Stuve-Wiedemann syndrome which is caused by mutations in the LIFR gene. At one time cases of Stuve-Wiedemann syndrome were referred to as Neonatal Schwartz Jampel syndrome type 2. Click on the link above to learn more about this syndrome. </s>

<s>[INST] Human: What are the treatments for isodicentric chromosome 15 syndrome ? [/INST] Assistant: These resources address the diagnosis or management of isodicentric chromosome 15 syndrome: - Autism Speaks: How is Autism Treated? 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 </s>

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

<s>[INST] Human: Is carbamoyl phosphate synthetase I deficiency inherited ? [/INST] Assistant: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>

<s>[INST] Human: What is (are) Glomerular Diseases ? [/INST] Assistant: The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Blood enters the kidneys through arteries that branch inside the kidneys into tiny clusters of looping blood vessels. Each cluster is called a glomerulus, which comes from the Greek word meaning filter. The plural form of the word is glomeruli. There are approximately 1 million glomeruli, or filters, in each kidney. The glomerulus is attached to the opening of a small fluid-collecting tube called a tubule. Blood is filtered in the glomerulus, and extra fluid and wastes pass into the tubule and become urine. Eventually, the urine drains from the kidneys into the bladder through larger tubes called ureters. Each glomerulus-and-tubule unit is called a nephron. Each kidney is composed of about 1 million nephrons. In healthy nephrons, the glomerular membrane that separates the blood vessel from the tubule allows waste products and extra water to pass into the tubule while keeping blood cells and protein in the bloodstream. </s>

<s>[INST] Human: What is (are) Papillary renal cell carcinoma ? [/INST] Assistant: Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy. </s>

<s>[INST] Human: What are the symptoms of X-linked adrenal hypoplasia congenita ? [/INST] Assistant: What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications may be life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles, delayed puberty, and an inability to father children. Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked adrenal hypoplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of pubertal development - Adrenal hypoplasia - Cryptorchidism - Dehydration - Delayed puberty - Failure to thrive - Hyperpigmentation of the skin - Hypocortisolemia - Hypogonadotrophic hypogonadism - Hyponatremia - Low gonadotropins (secondary hypogonadism) - Muscular dystrophy - Renal salt wasting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) Exogenous ochronosis ? [/INST] Assistant: Exogenous ochronosis refers to the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due to exposure to various substances. It has been reported most commonly with topical application of hydroquinones to the skin. The discoloration may be caused by an effect on tyrosinase (an enzyme located in melanocytes, which are skin cells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. </s>

<s>[INST] Human: How many people are affected by nonbullous congenital ichthyosiform erythroderma ? [/INST] Assistant: NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected. </s>

<s>[INST] Human: How many people are affected by Carney complex ? [/INST] Assistant: Carney complex is a rare disorder; fewer than 750 affected individuals have been identified. </s>

<s>[INST] Human: What causes Isovaleric acidemia ? [/INST] Assistant: What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems. </s>

<s>[INST] Human: What causes Viral Hepatitis: A through E and Beyond ? [/INST] Assistant: Some cases of viral hepatitis cannot be attributed to the hepatitis A, B, C, D, or E viruses, or even the less common viruses that can infect the liver, such as cytomegalovirus, Epstein-Barr virus, herpesvirus, parvovirus, and adenovirus. These cases are called non-AE hepatitis. Scientists continue to study the causes of non-AE hepatitis. </s>

<s>[INST] Human: What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? [/INST] 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. </s>

<s>[INST] Human: What are the treatments for Developmental Dyspraxia ? [/INST] Assistant: Treatment is symptomatic and supportive and may include occupational and speech therapy, and "cueing" or other forms of communication such as using pictures and hand gestures. Many children with the disorder require special education. </s>

<s>[INST] Human: What are the symptoms of Congenital pulmonary lymphangiectasia ? [/INST] Assistant: What are the signs and symptoms of Congenital pulmonary lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary lymphangiectasia. 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) Acrocyanosis 90% Respiratory insufficiency 90% Abnormality of the pericardium 50% Chronic obstructive pulmonary disease 50% Congestive heart failure 50% Hydrops fetalis 50% Abnormality of the tricuspid valve 7.5% Hepatomegaly 7.5% Pulmonary hypertension 7.5% Splenomegaly 7.5% Autosomal recessive inheritance - Bronchodysplasia - Chylothorax - Chylous ascites - Depressed nasal bridge - Edema of the lower limbs - Flat face - Hypertelorism - Malar flattening - Mild postnatal growth retardation - Nonimmune hydrops fetalis - Palpebral edema - Pectus excavatum - Pleural effusion - Polyhydramnios - Pulmonary lymphangiectasia - Recurrent respiratory infections - Variable expressivity - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ? [/INST] Assistant: Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G). </s>

<s>[INST] Human: What are the treatments for Behcet's Disease ? [/INST] Assistant: Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system. Immunosuppressive therapy may be considered. </s>

<s>[INST] Human: What is (are) Central serous chorioretinopathy ? [/INST] Assistant: Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight lines and seeing objects as smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals. </s>

<s>[INST] Human: What causes Glucose transporter type 1 deficiency syndrome ? [/INST] Assistant: What causes glucose transporter type 1 deficiency syndrome? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is caused by changes (mutations) in the SLC2A1 gene. This gene encodes a protein that helps transport glucose (a simple sugar) into cells where it is used as fuel. The protein is particularly important in the central nervous system since glucose is the brain's main source of energy. SLC2A1 mutations impair the function of the protein. This significantly reduces the amount of glucose available to brain cells leading to the many signs and symptoms associated with GLUT1 deficiency syndrome. </s>

<s>[INST] Human: What is (are) aromatase excess syndrome ? [/INST] Assistant: Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome. </s>

<s>[INST] Human: What are the symptoms of Your Guide to Diabetes: Type 1 and Type 2 ? [/INST] Assistant: The signs and symptoms of diabetes are - being very thirsty - urinating often - feeling very hungry - feeling very tired - losing weight without trying - sores that heal slowly - dry, itchy skin - feelings of pins and needles in your feet - losing feeling in your feet - blurry eyesight Some people with diabetes dont have any of these signs or symptoms. The only way to know if you have diabetes is to have your doctor do a blood test. </s>

<s>[INST] Human: What is (are) Psoriasis ? [/INST] Assistant: Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get the patches on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people who have psoriasis also get a form of arthritis called psoriatic arthritis. A problem with your immune system causes psoriasis. In a process called cell turnover, skin cells that grow deep in your skin rise to the surface. Normally, this takes a month. In psoriasis, it happens in just days because your cells rise too fast. Psoriasis can be hard to diagnose because it can look like other skin diseases. Your doctor might need to look at a small skin sample under a microscope. Psoriasis can last a long time, even a lifetime. Symptoms come and go. Things that make them worse include - Infections - Stress - Dry skin - Certain medicines Psoriasis usually occurs in adults. It sometimes runs in families. Treatments include creams, medicines, and light therapy. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases </s>

<s>[INST] Human: What are the treatments for Beckwith-Wiedemann syndrome ? [/INST] Assistant: These resources address the diagnosis or management of Beckwith-Wiedemann syndrome: - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome - Genetic Testing Registry: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Macroglossia - MedlinePlus Encyclopedia: Omphalocele 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 </s>

<s>[INST] Human: What are the symptoms of Isovaleric acidemia ? [/INST] Assistant: What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Isovaleric acidemia. 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) Aminoaciduria 90% Cognitive impairment 90% Seizures 50% Cerebellar hemorrhage 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Coma - Dehydration - Hyperglycinuria - Ketoacidosis - Lethargy - Leukopenia - Metabolic acidosis - Pancytopenia - Thrombocytopenia - Vomiting - 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. </s>

<s>[INST] Human: Is amyotrophic lateral sclerosis inherited ? [/INST] Assistant: About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited. An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Some people who inherit a familial genetic mutation known to cause ALS never develop features of the condition. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not. Less frequently, ALS 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. Because an affected person's parents are not affected, autosomal recessive ALS is often mistaken for sporadic ALS even though it is caused by a familial genetic mutation. Very rarely, ALS is inherited in an X-linked dominant pattern. X-linked conditions occur when the gene associated with the condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males tend to develop the disease earlier and have a decreased life expectancy compared with females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. </s>

<s>[INST] Human: What causes Von Willebrand Disease ? [/INST] Assistant: Von Willebrand disease (VWD) is almost always inherited. "Inherited" means that the disorder is passed from parents to children though genes. You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents' symptoms. Some people have the genes for the disorder but don't have symptoms. However, they still can pass the genes on to their children. Some people get VWD later in life as a result of other medical conditions. This type of VWD is called acquired von Willebrand syndrome. </s>

<s>[INST] Human: How many people are affected by boomerang dysplasia ? [/INST] Assistant: Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified. </s>

<s>[INST] Human: How many people are affected by geleophysic dysplasia ? [/INST] Assistant: Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported. </s>

<s>[INST] Human: How many people are affected by autosomal recessive congenital methemoglobinemia ? [/INST] Assistant: The incidence of autosomal recessive congenital methemoglobinemia is unknown. </s>

<s>[INST] Human: What is (are) Endometriosis ? [/INST] Assistant: Endometriosis is a problem affecting a woman's uterus - the place where a baby grows when she's pregnant. Endometriosis is when the kind of tissue that normally lines the uterus grows somewhere else. It can grow on the ovaries, behind the uterus or on the bowels or bladder. Rarely, it grows in other parts of the body. This "misplaced" tissue can cause pain, infertility, and very heavy periods. The pain is usually in the abdomen, lower back or pelvic areas. Some women have no symptoms at all. Having trouble getting pregnant may be the first sign. The cause of endometriosis is not known. Pain medicines and hormones often help. Severe cases may need surgery. There are also treatments to improve fertility in women with endometriosis. </s>

<s>[INST] Human: What is (are) Guillain-Barr Syndrome ? [/INST] Assistant: Guillain-Barr syndrome is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. These symptoms can increase in intensity until the muscles cannot be used at all and the person is almost totally paralyzed. In these cases, the disorder is life-threatening and is considered a medical emergency. The individual is often put on a ventilator to assist with breathing. Most individuals, however, have good recovery from even the most severe cases of Guillain-Barr syndrome (GBS), although some continue to have some degree of weakness. Guillain-Barr syndrome is rare. Usually Guillain-Barr occurs a few days or weeks after the person has had symptoms of a respiratory or gastrointestinal viral infection. Occasionally, surgery will trigger the syndrome. In rare instances, vaccinations may increase the risk of GBS. The disorder can develop over the course of hours or days, or it may take up to 3 to 4 weeks. No one yet knows why Guillain-Barr strikes some people and not others or what sets the disease in motion. What scientists do know is that the body's immune system begins to attack the body itself, causing what is known as an autoimmune disease. Guillain-Barr is called a syndrome rather than a disease because it is not clear that a specific disease-causing agent is involved. Reflexes such as knee jerks are usually lost. Because the signals traveling along the nerve are slower, a nerve conduction velocity (NCV) test can give a doctor clues to aid the diagnosis. The cerebrospinal fluid that bathes the spinal cord and brain contains more protein than usual, so a physician may decide to perform a spinal tap. </s>

<s>[INST] Human: What are the genetic changes related to infantile systemic hyalinosis ? [/INST] Assistant: Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The signs and symptoms of infantile systemic hyalinosis are caused by the accumulation of a hyaline substance in different parts of the body. The nature of this substance is not well known, but it is likely made up of protein and sugar molecules. Researchers suspect that mutations in the ANTXR2 gene disrupt the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues. </s>

<s>[INST] Human: Who is at risk for Anemia? ? [/INST] Assistant: Anemia is a common condition. It occurs in all age, racial, and ethnic groups. Both men and women can have anemia. However, women of childbearing age are at higher risk for the condition because of blood loss from menstruation. Anemia can develop during pregnancy due to low levels of iron and folic acid (folate) and changes in the blood. During the first 6 months of pregnancy, the fluid portion of a woman's blood (the plasma) increases faster than the number of red blood cells. This dilutes the blood and can lead to anemia. During the first year of life, some babies are at risk for anemia because of iron deficiency. At-risk infants include those who are born too early and infants who are fed breast milk only or formula that isn't fortified with iron. These infants can develop iron deficiency by 6 months of age. Infants between 1 and 2 years of age also are at risk for anemia. They may not get enough iron in their diets, especially if they drink a lot of cow's milk. Cow's milk is low in the iron needed for growth. Drinking too much cow's milk may keep an infant or toddler from eating enough iron-rich foods or absorbing enough iron from foods. Older adults also are at increased risk for anemia. Researchers continue to study how the condition affects older adults. Many of these people have other medical conditions as well. Major Risk Factors Factors that raise your risk for anemia include: A diet that is low in iron, vitamins, or minerals Blood loss from surgery or an injury Long-term or serious illnesses, such as kidney disease, cancer, diabetes, rheumatoid arthritis, HIV/AIDS, inflammatory bowel disease (including Crohn's disease), liver disease, heart failure, and thyroid disease Long-term infections A family history of inherited anemia, such as sickle cell anemia or thalassemia </s>

<s>[INST] Human: What are the treatments for glycogen storage disease type V ? [/INST] Assistant: These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care </s>

<s>[INST] Human: What are the treatments for Spinal Cord Infarction ? [/INST] Assistant: Treatment is symptomatic. Physical and occupational therapy may help individuals recover from weakness or paralysis. A catheter may be necessary for patients with urinary incontinence. </s>

<s>[INST] Human: What is (are) Thyroglossal tract cyst ? [/INST] Assistant: A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development. </s>

<s>[INST] Human: Is Senior-Lken syndrome inherited ? [/INST] Assistant: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>

<s>[INST] Human: What is (are) Diabetes ? [/INST] Assistant: Too Much Glucose in the Blood Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries the glucose to all of the cells in your body. Insulin is a chemical (a hormone) made by the pancreas. The pancreas releases insulin into the blood. Insulin helps the glucose from food get into your cells. If your body does not make enough insulin or if the insulin doesn't work the way it should, glucose can't get into your cells. It stays in your blood instead. Your blood glucose level then gets too high, causing pre-diabetes or diabetes. Types of Diabetes There are three main kinds of diabetes: type 1, type 2, and gestational diabetes. The result of type 1 and type 2 diabetes is the same: glucose builds up in the blood, while the cells are starved of energy. Over the years, high blood glucose damages nerves and blood vessels, oftentimes leading to complications such as heart disease, stroke, blindness, kidney disease, nerve problems, gum infections, and amputation. Type 1 Diabetes Type 1 diabetes, which used to be called called juvenile diabetes or insulin-dependent diabetes, develops most often in young people. However, type 1 diabetes can also develop in adults. With this form of diabetes, your body no longer makes insulin or doesnt make enough insulin because your immune system has attacked and destroyed the insulin-producing cells. About 5 to 10 percent of people with diabetes have type 1 diabetes. To survive, people with type 1 diabetes must have insulin delivered by injection or a pump. Learn more about type 1 diabetes here. Type 2 Diabetes Type 2 diabetes, which used to be called adult-onset diabetes or non insulin-dependent diabetes, is the most common form of diabetes. Although people can develop type 2 diabetes at any age -- even during childhood -- type 2 diabetes develops most often in middle-aged and older people. Type 2 diabetes usually begins with insulin resistancea condition that occurs when fat, muscle, and liver cells do not use insulin to carry glucose into the bodys cells to use for energy. As a result, the body needs more insulin to help glucose enter cells. At first, the pancreas keeps up with the added demand by making more insulin. Over time, the pancreas doesnt make enough insulin when blood sugar levels increase, such as after meals. If your pancreas can no longer make enough insulin, you will need to treat your type 2 diabetes. Learn more about type 2 diabetes here. Gestational Diabetes Some women develop gestational diabetes during the late stages of pregnancy. Gestational diabetes is caused by the hormones of pregnancy or a shortage of insulin. Although this form of diabetes usually goes away after the baby is born, a woman who has had it and her child are more likely to develop diabetes later in life. Prediabetes Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. The good news is that if you have prediabetes, you can reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. Learn more about prediabetes here. Signs of Diabetes Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all. How Many Have Diabetes? Nearly 29 million Americans age 20 or older (12.3 percent of all people in this age group) have diabetes, according to 2014 estimates from the Centers for Disease Control and Prevention (CDC). About 1.9 million people aged 20 years or older were newly diagnosed with diabetes in 2010 alone. People can get diabetes at any age, but the risk increases as we get older. In 2014, over 11 million older adults living in the U.S -- nearly 26 percent of people 65 or older -- had diabetes. See more statistics about diabetes from the National Diabetes Statistics Report 2014. (Centers for Disease Control and Prevention.) If Diabetes is Not Managed Diabetes is a very serious disease. Over time, diabetes that is not well managed causes serious damage to the eyes, kidneys, nerves, heart, gums and teeth. If you have diabetes, you are more likely than people without diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or stroke at an earlier age than others. The best way to protect yourself from the serious complications of diabetes is to manage your blood glucose, blood pressure and cholesterol and to avoid smoking. It is not always easy, but people who make an ongoing effort to manage their diabetes can greatly improve their overall health. </s>

<s>[INST] Human: Is PDGFRA-associated chronic eosinophilic leukemia inherited ? [/INST] Assistant: PDGFRA-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Mutations that lead to a PDGFRA fusion gene and PDGFRA point mutations are somatic mutations, which means they occur during a person's lifetime and are found only in certain cells. Somatic mutations are not inherited. Males are more likely to develop PDGFRA-associated chronic eosinophilic leukemia than females because, for unknown reasons, PDGFRA fusion genes are found more often in males. </s>

<s>[INST] Human: What are the treatments for Hypothalamic dysfunction ? [/INST] Assistant: How might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with hormone supplementation. If the cause is unknown, treatment may be symptomatic. To date, no successful treatment has been reported for idiopathic hypothalamic dysfunction. </s>

<s>[INST] Human: What are the complications of Medullary Sponge Kidney ? [/INST] Assistant: Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure. </s>

<s>[INST] Human: What is (are) epidermolytic hyperkeratosis ? [/INST] Assistant: Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis). As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor. Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body. Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group. </s>

<s>[INST] Human: What are the genetic changes related to proopiomelanocortin deficiency ? [/INST] Assistant: POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. Cortisol is involved in the maintenance of blood sugar levels. Another peptide, alpha-melanocyte stimulating hormone (-MSH), plays a role in the production of the pigment that gives skin and hair their color. The -MSH peptide and another peptide called beta-melanocyte stimulating hormone (-MSH) act in the brain to help maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight. POMC gene mutations that cause POMC deficiency result in production of an abnormally short version of the POMC protein or no protein at all. As a result, there is a shortage of the peptides made from POMC, including ACTH, -MSH, and -MSH. Without ACTH, there is a reduction in cortisol production, leading to adrenal insufficiency. Decreased -MSH in the skin reduces pigment production, resulting in the red hair and pale skin often seen in people with POMC deficiency. Loss of -MSH and -MSH in the brain dysregulates the body's energy balance, leading to overeating and severe obesity. POMC deficiency is a rare cause of obesity; POMC gene mutations are not frequently associated with more common, complex forms of obesity. Researchers are studying other factors that are likely involved in these forms. </s>

<s>[INST] Human: What are the symptoms of Thrombotic thrombocytopenic purpura, congenital ? [/INST] Assistant: What are the signs and symptoms of Thrombotic thrombocytopenic purpura, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombotic thrombocytopenic purpura, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Respiratory distress 5% Autosomal recessive inheritance - Confusion - Elevated serum creatinine - Fever - Hemolytic-uremic syndrome - Heterogeneous - Increased blood urea nitrogen (BUN) - Increased serum lactate - Microangiopathic hemolytic anemia - Microscopic hematuria - Prolonged neonatal jaundice - Proteinuria - Reticulocytosis - Schistocytosis - Thrombocytopenia - Tremor - 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. </s>

<s>[INST] Human: What is (are) Wilson Disease ? [/INST] Assistant: Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. The most characteristic sign of WD is the Kayser-Fleisher ring a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologists slit lamp. The primary consequence for most individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms are neurological, occur later in adulthood, and commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. One-third of individuals with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that measure the amount of copper in the blood, urine, and liver. </s>

<s>[INST] Human: How to diagnose Parasites - Fascioliasis (Fasciola Infection) ? [/INST] Assistant: The standard way to be sure a person is infected with Fasciola is by seeing the parasite. This is usually done by finding Fasciola eggs in stool (fecal) specimens examined under a microscope. More than one specimen may need to be examined to find the parasite. Sometimes eggs are found by examining duodenal contents or bile. Infected people don't start passing eggs until they have been infected for several months; people don't pass eggs during the acute phase of the infection. Therefore, early on, the infection has to be diagnosed in other ways than by examining stool. Even during the chronic phase of infection, it can be difficult to find eggs in stool specimens from people who have light infections. Certain types of blood tests can be helpful for diagnosing Fasciola infection, including routine blood work and tests that detect antibodies (an immune response) to the parasite. More on: Resources for Health Professionals: Diagnosis </s>

<s>[INST] Human: What are the treatments for Allan-Herndon-Dudley syndrome ? [/INST] Assistant: These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedia: T3 Test 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 </s>

<s>[INST] Human: What is (are) Kuru ? [/INST] Assistant: Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased family members. Brain tissue from individuals with kuru was highly infectious, and the disease was transmitted either through eating or by contact with open sores or wounds. Government discouragement of the practice of cannibalism led to a continuing decline in the disease, which has now mostly disappeared. Kuru belongs to a class of infectious diseases called transmissible spongiform encephalopathies (TSEs), also known as prion diseases. The hallmark of a TSE disease is misshapen protein molecules that clump together and accumulate in brain tissue. Scientists believe that misshapen prion proteins have the ability to change their shape and cause other proteins of the same type to also change shape. Other TSEs include Creutzfeldt-Jakob disease and fatal familial insomnia in humans, bovine spongiform encephalopathy in cattle (also known as mad cow disease), scrapie in sheep and goats, and chronic wasting disease in deer and elk. </s>

<s>[INST] Human: What are the symptoms of Cerebellar hypoplasia tapetoretinal degeneration ? [/INST] Assistant: What are the signs and symptoms of Cerebellar hypoplasia tapetoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar hypoplasia tapetoretinal degeneration. 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 electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nystagmus 90% Optic atrophy 90% Visual impairment 90% Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - Tremor - 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. </s>

<s>[INST] Human: Do you have information about Toddler Development [/INST] Assistant: Summary : Mastering new skills such as how to walk, talk, and use the potty are developmental milestones. It is exciting to watch your toddler learn new skills. The normal development of children aged 1-3 can be broken down into the following areas: - Gross motor - walking, running, climbing - Fine motor - feeding themselves, drawing - Sensory - seeing, hearing, tasting, touching, and smelling - Language - saying single words, then sentences - Social - playing with others, taking turns, doing fantasy play Toddlers do not develop at the same rate. There is a wide range of what is considered "normal." Your child may be ahead in some areas and slightly behind in others. If you are worried about possible delays, talk to your child's health care provider. </s>

<s>[INST] Human: What is (are) Hypoplastic left heart syndrome ? [/INST] Assistant: Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. Babies with HLHS might look normal at birth, but will develop symptoms of HLHS within a few days. These symptoms might include: poor feeding, problems breathing, pounding heart, weak pulse, and ashen or bluish skin color. The cause of HLHs is presently unknown. </s>

<s>[INST] Human: How to diagnose Severe combined immunodeficiency ? [/INST] Assistant: How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibiotic treatment for two or more months Failure to gain weight or grow normally Infections that require intravenous antibiotic treatment Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver Persistent thrush in the mouth or throat A family history of immune deficiency or infant deaths due to infections Diagnosis can be confirmed by blood tests. Blood tests show significantly lower-than-normal levels of T cells and antibodies. For further details on diagnosis see the following Web pages: The Primary Immunodeficiency Resource Center provides further details regarding diagnosis of SCID. Click on the embedded link to view the page. An article from Medscape Reference provides detailed information on the diagnosis of SCID. Click on eMedicine Journal to view the page. You may need to register to view the article, but registration is free. </s>

<s>[INST] Human: How many people are affected by Li-Fraumeni syndrome ? [/INST] Assistant: The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder. </s>

<s>[INST] Human: What are the treatments for Ellis-van Creveld syndrome ? [/INST] Assistant: These resources address the diagnosis or management of Ellis-van Creveld syndrome: - Genetic Testing Registry: Chondroectodermal dysplasia - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome - MedlinePlus Encyclopedia: Polydactyly 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 </s>

<s>[INST] Human: What are the treatments for Li-Fraumeni syndrome ? [/INST] Assistant: These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes 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 </s>

<s>[INST] Human: What are the genetic changes related to X-linked adrenoleukodystrophy ? [/INST] Assistant: Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules, including VLCFAs. ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy. </s>

<s>[INST] Human: How many people are affected by primary spontaneous pneumothorax ? [/INST] Assistant: Primary spontaneous pneumothorax is more common in men than in women. This condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 women each year. </s>

<s>[INST] Human: What are the genetic changes related to hereditary hypophosphatemic rickets ? [/INST] Assistant: Hereditary hypophosphatemic rickets can result from mutations in several genes. Mutations in the PHEX gene, which are responsible for X-linked hypophosphatemic rickets, occur most frequently. Mutations in other genes cause the less common forms of the condition. Hereditary hypophosphatemic rickets is characterized by a phosphate imbalance in the body. Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally excrete excess phosphate in urine, and they reabsorb this mineral into the bloodstream when more is needed. However, in people with hereditary hypophosphatemic rickets, the kidneys cannot reabsorb phosphate effectively and too much of this mineral is excreted from the body in urine. As a result, not enough phosphate is available in the bloodstream to participate in normal bone development and maintenance. The genes associated with hereditary hypophosphatemic rickets are involved in maintaining the proper balance of phosphate. Many of these genes, including the PHEX gene, directly or indirectly regulate a protein called fibroblast growth factor 23 (produced from the FGF23 gene). This protein normally inhibits the kidneys' ability to reabsorb phosphate into the bloodstream. Gene mutations increase the production or reduce the breakdown of fibroblast growth factor 23. The resulting overactivity of this protein reduces phosphate reabsorption by the kidneys, leading to hypophosphatemia and the related features of hereditary hypophosphatemic rickets. </s>

<s>[INST] Human: What is (are) nonsyndromic hearing loss ? [/INST] Assistant: Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified. The various inheritance patterns of nonsyndromic hearing loss are described in more detail below. The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones. Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss. Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual. </s>

<s>[INST] Human: What is the outlook for Syringomyelia ? [/INST] Assistant: Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. Symptoms may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate. Some individuals may have long periods of stability. Surgery results in stabilization or modest improvement in symptoms for most individuals. Delay in treatment may result in irreversible spinal cord injury. </s>

<s>[INST] Human: What is (are) Lymphedema ? [/INST] Assistant: Lymphedema is the name of a type of swelling. It happens when lymph builds up in your body's soft tissues. Lymph is a fluid that contains white blood cells that defend against germs. It can build up when the lymph system is damaged or blocked. It usually happens in the arms or legs. Causes of lymphedema include - Infection - Cancer - Scar tissue from radiation therapy or surgical removal of lymph nodes - Inherited conditions in which lymph nodes or vessels are absent or abnormal Treatment can help control symptoms. It includes exercise, compression devices, skin care, and massage. NIH: National Cancer Institute </s>

<s>[INST] Human: What is (are) Schistosomiasis ? [/INST] Assistant: Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species. Schistosomiasis is common in many tropical and subtropical areas worldwide. It can be treated safely and effectively with praziquantel. </s>

<s>[INST] Human: What are the symptoms of Familial ventricular tachycardia ? [/INST] Assistant: What are the signs and symptoms of Familial ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Paroxysmal ventricular tachycardia - Sudden cardiac death - 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. </s>

<s>[INST] Human: What are the symptoms of Mesomelic dysplasia Savarirayan type ? [/INST] Assistant: What are the signs and symptoms of Mesomelic dysplasia Savarirayan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Savarirayan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Bowing of the long bones 90% Micromelia 90% Short stature 90% Skeletal dysplasia 90% Sprengel anomaly 90% Cognitive impairment 50% Elbow dislocation 50% Abnormality of the foot - Abnormality of the thorax - Autosomal dominant inheritance - Delayed closure of the anterior fontanelle - Dislocated radial head - Fibular aplasia - Hip dislocation - Mesomelia - Short tibia - Talipes equinovalgus - 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. </s>

<s>[INST] Human: What is (are) Chromosome 8p deletion ? [/INST] Assistant: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. </s>

<s>[INST] Human: How many people are affected by pyruvate carboxylase deficiency ? [/INST] Assistant: Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada. </s>

<s>[INST] Human: Is Spondyloepiphyseal dysplasia congenita inherited ? [/INST] Assistant: How is spondyloepiphyseal dysplasia congenita inherited? Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. This means that one altered (mutated) gene in each cell is sufficient to cause the disorder. Most cases of SEDC do not result from inheriting it from a parent, however; the condition more commonly results from a random, new mutation in the gene occurring for the first time in an affected individual who does not have a history SEDC in the family. In most of these cases, the risk to have another child with the condition is comparable to the risk for an individual in the general population to have a child with the condition. A few cases of autosomal recessive forms of SEDC have been reported. Germline mosaicism has also been reported for this condition. In this case, the parent does not have the mutated gene in all the cells of the body (and is not affected), but only in some of the germ cells (sperm or egg cells). The recurrence risk for a parent with germline mosaicism to have another affected child is difficult to predict. For conditions with autosomal dominant inheritance, studies have demonstrated that the risk to have another affected child may be low (about 1%), moderate (about 6%), or higher (about 30%), depending on the proportion of germ cells with the mutation as well as the disorder itself. </s>

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

<s>[INST] Human: What are the treatments for Microcystic adnexal carcinoma ? [/INST] Assistant: Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease. There are no guidelines for the use of radiation therapy as treatment for microcystic adnexal carcinoma, and little is known about the dose of radiation that might be needed to be effective. Two articles studying a total of 17 patients receiving radiation therapy for microcystic adnexal carcinoma have suggested that there may be a benefit of radiation therapy for decreasing the chances of the tumor regrowing (recurrence), and the authors suggest that this treatment could be considered if there is evidence that cancer cells remain after surgery, or in situations where additional surgery cannot be done. However, another article raises concerns about the use of radiation therapy considering the small number of patients studied, the report of one patient's disease potentially worsening after radiation therapy, and the belief that exposure to radiation may be a risk factor for the initial development of this tumor. </s>

<s>[INST] Human: What is (are) Anal Cancer ? [/INST] Assistant: The anus is where stool leaves your body when you go to the bathroom. It is made up of your outer layers of skin and the end of your large intestine. Anal cancer is a disease in which cancer cells form in the tissues of the anus. Anal cancer is rare. It is more common in smokers and people over 50. You are also at higher risk if you have HPV, have anal sex, or have many sexual partners. Symptoms include bleeding, pain, or lumps in the anal area. Anal itching and discharge can also be signs of anal cancer. Doctors use tests that examine the anus to diagnose anal cancer. They include a physical exam, endoscopy, ultrasound, and biopsy. Treatments include radiation therapy, chemotherapy, and surgery. NIH: National Cancer Institute </s>

<s>[INST] Human: What are the treatments for Familial osteochondritis dissecans ? [/INST] Assistant: How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling. If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery, physical therapy is often necessary to improve the strength and range of motion of the affected joint. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Transitional Cell Cancer of the Renal Pelvis and Ureter ? [/INST] Assistant: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Fulguration Fulguration is a surgical procedure that destroys tissue using an electric current. A tool with a small wire loop on the end is used to remove the cancer or to burn away the tumor with electricity. Segmental resection of the renal pelvis This is a surgical procedure to remove localized cancer from the renal pelvis without removing the entire kidney. Segmental resection may be done to save kidney function when the other kidney is damaged or has already been removed. Laser surgery A laser beam (narrow beam of intense light) is used as a knife to remove the cancer. A laser beam can also be used to kill the cancer cells. This procedure may also be called or laser fulguration. Regional chemotherapy and regional biologic therapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. Biologic therapy is a treatment that uses the patient's immune system to fight cancer; substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. Regional treatment means the anticancer drugs or biologic substances are placed directly into an organ or a body cavity such as the abdomen, so the drugs will affect cancer cells in that area. Clinical trials are studying chemotherapy or biologic therapy using drugs placed directly into the renal pelvis or the ureter. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. </s>

<s>[INST] Human: How to diagnose Renal Tubular Acidosis ? [/INST] Assistant: To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis. </s>

<s>[INST] Human: What are the symptoms of Ectrodactyly polydactyly ? [/INST] Assistant: What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. 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) Postaxial hand polydactyly 90% Split hand 90% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Finger syndactyly 50% Symphalangism affecting the phalanges of the hand 50% Autosomal recessive inheritance - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: Do you have information about Personal Health Records [/INST] Assistant: Summary : You've probably seen your chart at your doctor's office. In fact, you may have charts at several doctors' offices. If you've been in the hospital, you have a chart there, too. These charts are your medical records. They may be on paper or electronic. To keep track of all this information, it's a good idea to keep your own personal health record. What kind of information would you put in a personal health record? You could start with - Your name, birth date, blood type, and emergency contact information - Date of last physical - Dates and results of tests and screenings - Major illnesses and surgeries, with dates - A list of your medicines and supplements, the dosages, and how long you've taken them - Any allergies - Any chronic diseases - Any history of illnesses in your family </s>

<s>[INST] Human: What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? [/INST] Assistant: How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery should be discussed with an oculoplastic surgeon to decide on the method and timing that is best suited for the patient. Traditionally, surgical correction of the blepharophimosis, epicanthus inversus, and telecanthus (canthoplasty) is performed at ages three to five years, followed about a year later by ptosis correction (usually requiring a brow suspension procedure). If the epicanthal folds are small, a "Y-V canthoplasty" is traditionally used; if the epicanthal folds are severe, a "double Z-plasty" is used. Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural appearance. For a general explanation of these procedures and to locate an eye-care professional visit the Foundation of the American Academy of Ophthalmology and the National Eye Institute websites. To locate a surgeon through the American Society of Ophthalmic Plastic & Reconstructive Surgery click here. Generally, premature ovarian failure (POF) is treated with hormone replacement therapy. There is no specific treatment for POF caused by blepharophimosis syndrome type 1. Hormone replacement therapy is generally estrogen and progesterone and sometimes also includes testosterone. Birth control pills are sometimes substituted for hormone replacement therapy. Although health care providers can suggest treatments for some of the symptoms of POF, currently there is no scientifically established treatment to restore fertility for women diagnosed with POF. Women with POF are encouraged to speak to a health care professional. If you wish to obtain more information and support, you can visit the International Premature Ovarian Failure Association. </s>

<s>[INST] Human: What are the treatments for Wernicke-Korsakoff Syndrome ? [/INST] Assistant: Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment. </s>

<s>[INST] Human: What are the symptoms of Russell-Silver syndrome ? [/INST] Assistant: What are the signs and symptoms of Russell-Silver syndrome? Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include: intrauterine growth restriction low birth weight poor growth short stature curving of the pinky finger (clinodactyly) characteristic facial features (wide forehead; small, triangular face; and small, narrow chin) arms and legs of different lengths cafe-au-lait spots (birth marks) delayed bone age gastroesophageal reflux disease kidney problems "stubby" fingers and toes developmental delay learning disabilities The Human Phenotype Ontology provides the following list of signs and symptoms for Russell-Silver 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) Blue sclerae 90% Clinodactyly of the 5th finger 90% Decreased body weight 90% Downturned corners of mouth 90% Intrauterine growth retardation 90% Short stature 90% Triangular face 90% Asymmetric growth 50% Delayed skeletal maturation 50% Hypoglycemia 50% Thin vermilion border 50% Abnormality of the cardiovascular system 7.5% Abnormality of the urinary system 7.5% Cognitive impairment 7.5% Precocious puberty 7.5% Abnormality of the foot - Abnormality of the ureter - Cafe-au-lait spot - Congenital posterior urethral valve - Craniofacial disproportion - Craniopharyngioma - Delayed cranial suture closure - Fasting hypoglycemia - Frontal bossing - Growth hormone deficiency - Hepatocellular carcinoma - Hypospadias - Nephroblastoma (Wilms tumor) - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Small for gestational age - Sporadic - Syndactyly - Testicular seminoma - 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. </s>