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<s>[INST] Human: What is (are) familial exudative vitreoretinopathy ? [/INST] Assistant: Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil. Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures. </s>

<s>[INST] Human: Is medullary cystic kidney disease type 1 inherited ? [/INST] Assistant: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. </s>

<s>[INST] Human: What are the genetic changes related to multiple sulfatase deficiency ? [/INST] Assistant: Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones. Most SUMF1 gene mutations severely reduce the function of the FGE enzyme or lead to the production of an unstable enzyme that is quickly broken down. The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes. Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death. The death of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and symptoms of multiple sulfatase deficiency. Research indicates that mutations that lead to reduced FGE enzyme function are associated with the less severe cases of the condition, whereas mutations that lead to the production of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency. </s>

<s>[INST] Human: How to diagnose Skin Cancer ? [/INST] Assistant: Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. The following procedures may be used: - Skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. - Skin biopsy : All or part of the abnormal-looking growth is cut from the skin and viewed under a microscope by a pathologist to check for signs of cancer. There are four main types of skin biopsies: - Shave biopsy : A sterile razor blade is used to shave-off the abnormal-looking growth. - Punch biopsy : A special instrument called a punch or a trephine is used to remove a circle of tissue from the abnormal-looking growth. - Incisional biopsy : A scalpel is used to remove part of a growth. - Excisional biopsy : A scalpel is used to remove the entire growth. </s>

<s>[INST] Human: Is Myhre syndrome inherited ? [/INST] Assistant: How is Myhre syndrome inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. </s>

<s>[INST] Human: Is 1p36 deletion syndrome inherited ? [/INST] Assistant: Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 20 percent of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 1p36 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 1, which results in birth defects and other health problems characteristic of this disorder. </s>

<s>[INST] Human: What are the genetic changes related to Duchenne and Becker muscular dystrophy ? [/INST] Assistant: Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin. This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers. Dystrophin may also play a role in chemical signaling within cells. Mutations in the DMD gene alter the structure or function of dystrophin or prevent any functional dystrophin from being produced. Muscle cells without enough of this protein become damaged as muscles repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies. Mutations that lead to an abnormal version of dystrophin that retains some function usually cause Becker muscular dystrophy, while mutations that prevent the production of any functional dystrophin tend to cause Duchenne muscular dystrophy. Because Duchenne and Becker muscular dystrophies result from faulty or missing dystrophin, these conditions are classified as dystrophinopathies. </s>

<s>[INST] Human: What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? [/INST] Assistant: What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 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) Stroke 5% Autosomal dominant inheritance - Cerebral aneurysm - Hematuria - Leukoencephalopathy - Muscle cramps - Nephropathy - Renal cyst - Renal insufficiency - Retinal arteriolar tortuosity - Retinal hemorrhage - Supraventricular arrhythmia - 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 research (or clinical trials) is being done for Myotonia ? [/INST] Assistant: The National Institute of Neurological Disorders and Stroke supports and conducts an extensive research program on neuromuscular disorders. The goals of this research are to learn more about these disorders and to find ways to treat, prevent, and cure them. </s>

<s>[INST] Human: What are the symptoms of Tranebjaerg Svejgaard syndrome ? [/INST] Assistant: What are the signs and symptoms of Tranebjaerg Svejgaard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tranebjaerg Svejgaard syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Dry skin 90% High forehead 90% Macrotia 90% Muscular hypotonia 90% Neurological speech impairment 90% Open mouth 90% Seizures 90% Strabismus 90% Abnormality of the palate 50% Abnormality of the tongue 50% Anteverted nares 50% Incoordination 50% Mandibular prognathia 50% Respiratory insufficiency 50% Scoliosis 50% Thick lower lip vermilion 50% Wide mouth 50% Wide nasal bridge 50% Arachnodactyly 7.5% Camptodactyly of finger 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Hemiplegia/hemiparesis 7.5% Hypermetropia 7.5% Hypertelorism 7.5% Joint hypermobility 7.5% Long penis 7.5% Palmoplantar keratoderma 7.5% Proximal placement of thumb 7.5% Single transverse palmar crease 7.5% Intellectual disability - Psoriasis - X-linked 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) Perniosis ? [/INST] Assistant: Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occur hours after cold exposure. Risk factors for perniosis include having poor blood circulation (such as due to diabetes or smoking), a family history of perniosis, poor nutrition, and low body weight. Perniosis may occur alone or in association with an autoimmune condition (e.g., lupus, scleroderma), bone marrow disorder, or cancer. Treatment aims to relieve symptoms and prevent infection. Lifestyle/adaptive changes may also be recommended to prevent future symptoms. </s>

<s>[INST] Human: What are the treatments for glycogen storage disease type VII ? [/INST] Assistant: These resources address the diagnosis or management of glycogen storage disease type VII: - Genetic Testing Registry: Glycogen storage disease, type VII - The Swedish Information Centre for Rare Diseases 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: Do you have information about Pulmonary Rehabilitation [/INST] Assistant: Summary : Pulmonary rehabilitation (rehab) is a medically supervised program to help people who have chronic breathing problems, including - COPD (chronic obstructive pulmonary disease) - Sarcoidosis - Idiopathic pulmonary fibrosis - Cystic fibrosis During pulmonary rehab you may do exercise training and learn breathing techniques. You'll also get tips on conserving your energy and advice on nutrition and coping. These can't cure your lung disease or completely ease your breathing problems. But it can help you function better in your daily life. NIH: National Heart, Lung, and Blood Institute </s>

<s>[INST] Human: What are the treatments for Gaucher Disease ? [/INST] Assistant: Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved eligustat tartrate for Gaucher treatment, which works by administering small molecules that reduce the action of the enzyme that catalyzes glucose to ceramide. Surgery to remove the whole or part of the spleen may be required on rare occasions, and blood transfusions may benefit some anemic individuals. Other individuals may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease. </s>

<s>[INST] Human: What are the symptoms of Pyridoxine-dependent epilepsy ? [/INST] Assistant: What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxine-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Cognitive impairment 90% EEG abnormality 90% Neurological speech impairment 90% Seizures 90% Muscular hypotonia 50% Cerebral cortical atrophy 7.5% Hepatomegaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Delayed speech and language development - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Intellectual disability - Neonatal respiratory distress - Prenatal movement abnormality - Respiratory distress - Status epilepticus - 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) guanidinoacetate methyltransferase deficiency ? [/INST] Assistant: Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics. People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported. </s>

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

<s>[INST] Human: How many people are affected by tyrosine hydroxylase deficiency ? [/INST] Assistant: The prevalence of TH deficiency is unknown. </s>

<s>[INST] Human: What are the symptoms of Gerstmann-Straussler-Scheinker disease ? [/INST] Assistant: What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction leading to bradyphrenia (slowness of thought processing) and dementia Dysarthria (slurred speech) Nystagmus Spasticity (rigid muscle tone) Visual disturbances, sometimes leading to blindness Lack of coordination in swallowing Deafness Parkinsonian features (present in some families) The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Aggressive behavior - Apraxia - Areflexia - Autosomal dominant inheritance - Bradykinesia - Cerebellar atrophy - Dementia - Depression - Dysarthria - Emotional lability - Gait ataxia - Hyperreflexia - Impaired smooth pursuit - Limb ataxia - Lower limb muscle weakness - Memory impairment - Myoclonus - Neurofibrillary tangles - Parkinsonism - Perseveration - Personality changes - Phenotypic variability - Psychosis - Rapidly progressive - Rigidity - Spasticity - Tremor - Truncal ataxia - Weight loss - 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 Catecholaminergic polymorphic ventricular tachycardia ? [/INST] Assistant: What are the signs and symptoms of Catecholaminergic polymorphic ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Catecholaminergic polymorphic 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) Vertigo 50% Sudden cardiac death 7.5% Autosomal dominant inheritance - Seizures - Sudden death - Syncope - Ventricular tachycardia - 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) Parkinson's Disease ? [/INST] Assistant: The Parkinsons Disease Biomarkers Identification Network, or PD-BIN, is an initiative developed by the National Institute of Neurological Disorders and Stroke to discover and validate biomarkers for Parkinsons disease. Biomarkers are measurable characteristics that can reveal whether the disease is developing or progressing. Biomarkers could help doctors detect Parkinsons disease before symptoms appear and improve diagnosis of the disorder. </s>

<s>[INST] Human: What are the symptoms of Reactive arthritis ? [/INST] Assistant: What are the signs and symptoms of Reactive arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reactive arthritis. 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 fingernails 90% Abnormality of the oral cavity 90% Abnormality of the urethra 90% Arthralgia 90% Arthritis 90% Cartilage destruction 90% Enthesitis 90% Hyperkeratosis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Limitation of joint mobility 90% Malabsorption 90% Osteomyelitis 90% Pustule 90% Abdominal pain 50% Abnormality of the pleura 50% Inflammation of the large intestine 50% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Photophobia 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What is (are) What I need to know about Kidney Failure and How Its Treated ? [/INST] Assistant: Peritoneal dialysis uses the lining of your belly to filter your blood inside your body. You can do peritoneal dialysis at home because it uses your body to filter. A doctor will place a soft tube called a catheter in your belly a few weeks before you start treatment. The catheter stays in your belly permanently. The catheter lets you put a kind of salty water from a plastic bag into your belly. Then, you can move around and go about your day. While the salty water is inside your belly, it soaks up wastes and extra fluid from your body. After a few hours, you drain the salty water from your belly into a drain bag. The salty water removes wastes and extra fluid from your body. The salty water can be thrown away into a toilet or tub. Then you start over with a fresh bag of salty water. You will empty and fill your belly four to six times a day. The salty water is always in your belly soaking up wastes and extra fluid. Peritoneal dialysis does not make the kidneys better. However, it may help you feel better by filtering your blood when your kidneys fail. Is dialysis a cure for kidney failure? No. Hemodialysis and peritoneal dialysis help you feel better and live longer; however, they do not cure kidney failure. Although people with kidney failure are now living longer than ever, over the years kidney disease can cause problems such as heart disease, bone disease, arthritis, nerve damage, infertility, and malnutrition. These problems wont go away with dialysis; however, doctors now have new and better ways to prevent or treat them. You should discuss these problems and their treatments with your doctor. </s>

<s>[INST] Human: What is (are) distal myopathy 2 ? [/INST] Assistant: Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult. Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia). </s>

<s>[INST] Human: What is (are) Juvenile retinoschisis ? [/INST] Assistant: Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some complications. </s>

<s>[INST] Human: How to diagnose Uterine Sarcoma ? [/INST] Assistant: Tests that examine the uterus are used to detect (find) and diagnose uterine sarcoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam: An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Pap test: A procedure to collect cells from the surface of the cervix and vagina. A piece of cotton, a brush, or a small wooden stick is used to gently scrape cells from the cervix and vagina. The cells are viewed under a microscope to find out if they are abnormal. This procedure is also called a Pap smear. Because uterine sarcoma begins inside the uterus, this cancer may not show up on the Pap test. - Transvaginal ultrasound exam: A procedure used to examine the vagina, uterus, fallopian tubes, and bladder. An ultrasound transducer (probe) is inserted into the vagina and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram. - Dilatation and curettage : A procedure to remove samples of tissue from the inner lining of the uterus. The cervix is dilated and a curette (spoon-shaped instrument) is inserted into the uterus to remove tissue. The tissue samples are checked under a microscope for signs of disease. This procedure is also called a D&C. - Endometrial biopsy : The removal of tissue from the endometrium (inner lining of the uterus) by inserting a thin, flexible tube through the cervix and into the uterus. The tube is used to gently scrape a small amount of tissue from the endometrium and then remove the tissue samples. A pathologist views the tissue under a microscope to look for cancer cells. </s>

<s>[INST] Human: How many people are affected by familial isolated pituitary adenoma ? [/INST] Assistant: Pituitary adenomas, including sporadic tumors, are relatively common; they are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, accounting for approximately 2 percent of pituitary adenomas. More than 200 families with FIPA have been described in the medical literature. </s>

<s>[INST] Human: Who is at risk for Hendra Virus Disease (HeV)? ? [/INST] Assistant: Australia’s “Flying fox” bats (genus Pteropus) are the natural reservoir of Hendra virus. Serologic evidence for HeV infection have been found in all fours species of Australian flying foxes, but spillover of the virus in horses is limited to coastal and forested regions in Australia (Queensland and New South Wales states) (see Henipavirus Distribution Map). People at highest risk are those living within the distribution of the flying foxes and with occupational or recreational exposure to horses that have had potential contact with flying foxes in Australia. </s>

<s>[INST] Human: What are the treatments for North American Indian childhood cirrhosis ? [/INST] Assistant: These resources address the diagnosis or management of North American Indian childhood cirrhosis: - Children's Organ Transplant Association - Genetic Testing Registry: North american indian childhood cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care </s>

<s>[INST] Human: What are the genetic changes related to adolescent idiopathic scoliosis ? [/INST] Assistant: The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not been identified. Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with adolescent idiopathic scoliosis have been identified. </s>

<s>[INST] Human: What are the symptoms of Nephropathy, deafness, and hyperparathyroidism ? [/INST] Assistant: What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. 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) Sensorineural hearing impairment 90% Bone cyst 50% Glomerulopathy 50% Hypercalcemia 50% Hyperparathyroidism 50% Proteinuria 50% Renal insufficiency 50% Anemia 7.5% Autosomal recessive inheritance - Nephropathy - Parathyroid hyperplasia - 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 genetic changes related to spinocerebellar ataxia type 3 ? [/INST] Assistant: Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is attached (bound) to unneeded proteins, which tags them to be broken down (degraded) within cells. Ataxin-3 removes the ubiquitin from these unwanted proteins just before they are degraded so that the ubiquitin can be used again. Researchers believe that ataxin-3 also may be involved in regulating the first stage of protein production (transcription). The ATXN3 gene mutations that cause SCA3 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 12 to 43 times within the gene. Most people have fewer than 31 CAG repeats. In people with SCA3, the CAG segment is repeated more than 50 times. People who have 44 to 52 CAG repeats are described as having an "intermediate repeat." These individuals may or may not develop SCA3. People with 75 or fewer repeats tend to first experience signs and symptoms of SCA3 in mid-adulthood, while people with around 80 repeats usually have signs and symptoms by their teens. An increase in the length of the CAG segment leads to the production of an abnormally long version of the ataxin-3 enzyme that folds into the wrong 3-dimensional shape. This nonfunctional ataxin-3 enzyme cannot remove ubiquitin from proteins that are no longer needed. As a result, these unwanted proteins, along with ubiquitin and ataxin-3, cluster together to form clumps (aggregates) within the nucleus of the cells. It is unclear how these aggregates affect cell function, because they are found in healthy cells as well as those that die. Nerve cells (neurons) and other types of brain cells are most affected by mutations in the ATXN3 gene. SCA3 is associated with cell death in the part of the brain that is connected to the spinal cord (the brainstem), the part of the brain involved in coordinating movements (the cerebellum), and other areas of the brain. This condition is also associated with the death of neurons in the spinal cord. Over time, the loss of cells in the brain and spinal cord cause the signs and symptoms characteristic of SCA3. </s>

<s>[INST] Human: What are the treatments for recombinant 8 syndrome ? [/INST] Assistant: These resources address the diagnosis or management of recombinant 8 syndrome: - Genetic Testing Registry: Recombinant chromosome 8 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: Is juvenile idiopathic arthritis inherited ? [/INST] Assistant: Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. A sibling of a person with juvenile idiopathic arthritis has an estimated risk of developing the condition that is about 12 times that of the general population. </s>

<s>[INST] Human: What is (are) Collapsed Lung ? [/INST] Assistant: A collapsed lung happens when air enters the pleural space, the area between the lung and the chest wall. If it is a total collapse, it is called pneumothorax. If only part of the lung is affected, it is called atelectasis. Causes of a collapsed lung include - Lung diseases such as pneumonia or lung cancer - Being on a breathing machine - Surgery on the chest or abdomen - A blocked airway If only a small area of the lung is affected, you may not have symptoms. If a large area is affected, you may feel short of breath and have a rapid heart rate. A chest x-ray can tell if you have it. Treatment depends on the underlying cause. NIH: National Heart, Lung, and Blood Institute </s>

<s>[INST] Human: What is (are) Human T-cell leukemia virus type 2 ? [/INST] Assistant: Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-2 and it is considered a lifelong condition; however, most infected people remain asymptomatic (show no symptoms) throughout life. </s>

<s>[INST] Human: What is (are) spina bifida ? [/INST] Assistant: Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood. In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function. </s>

<s>[INST] Human: What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ? [/INST] Assistant: Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia. However, a health care provider can give information about how changes in eating, diet, or nutrition could help with treatment. Men should talk with a health care provider or dietitian about what diet is right for them. </s>

<s>[INST] Human: What are the treatments for Polycythemia vera ? [/INST] Assistant: What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV). No single treatment has been found to be effective for all affected individuals. For mild cases, treatment may include avoiding triggers of itching and dry skin, or controlling the temperature of the environment and bathing water. Several other treatments are available for more severe itching or for itching the does not respond to initial treatments. Interferon-alpha has been found to be effective for reducing itching in a majority of individual with PV who received this therapy; however, this medication can have significant side effects. Selective serotonin reuptake inhibitors (SSRIs), typically used to treat depression, may reducing itching for some individuals with PV.. Phototherapy, antihistamines, and phlebotomy have also been attempted, with mixed results. Additionally, if a genetic cause of polycythemia vera is know, medications targeted to the causative gene - such as JAK or mTor inhibitors - may be helpful in reducing itching. </s>

<s>[INST] Human: How many people are affected by mucopolysaccharidosis type I ? [/INST] Assistant: Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns. </s>

<s>[INST] Human: What are the symptoms of Dihydropyrimidinase deficiency ? [/INST] Assistant: What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase 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 pyramidal signs 5% Abnormal facial shape - Anal atresia - Autosomal recessive inheritance - Delayed speech and language development - Extrapyramidal dyskinesia - Feeding difficulties in infancy - Growth delay - Intellectual disability - Lethargy - Metabolic acidosis - Morphological abnormality of the pyramidal tract - Phenotypic variability - Plagiocephaly - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Short phalanx of finger - Somnolence - Talipes equinovarus - 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: How many people are affected by congenital neuronal ceroid lipofuscinosis ? [/INST] Assistant: Congenital NCL is the rarest type of NCL; approximately 10 cases have been described. </s>

<s>[INST] Human: What is (are) Breast Cancer ? [/INST] Assistant: Breast cancer occurs when a malignant tumor forms in the breast tissue. The cancer can be found in the breast itself or in the ducts and lymph nodes that surround the breast. </s>

<s>[INST] Human: What is (are) Skin Cancer ? [/INST] Assistant: Key Points - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are several types of skin cancer. - Skin cancer is the most common cancer in the United States. Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. The skin is the bodys largest organ. It protects against heat, sunlight, injury, and infection. Skin also helps control body temperature and stores water, fat, and vitamin D. The skin has several layers, but the two main layers are the epidermis (upper or outer layer) and the dermis (lower or inner layer). The epidermis is made up of 3 kinds of cells: - Squamous cells are the thin, flat cells that make up most of the epidermis. - Basal cells are the round cells under the squamous cells. - Melanocytes are found throughout the lower part of the epidermis. They make melanin, the pigment that gives skin its natural color. When skin is exposed to the sun, melanocytes make more pigment, causing the skin to tan, or darken. The dermis contains blood and lymph vessels, hair follicles, and glands. See the following PDQ summaries for more information about skin cancer: - Skin Cancer Screening - Skin Cancer Treatment - Melanoma Treatment - Genetics of Skin Cancer There are several types of skin cancer. The most common types of skin cancer are squamous cell carcinoma, which forms in the squamous cells and basal cell carcinoma, which forms in the basal cells. Squamous cell carcinoma and basal cell carcinoma are also called nonmelanoma skin cancers. Melanoma, which forms in the melanocytes, is a less common type of skin cancer that grows and spreads quickly. Skin cancer can occur anywhere on the body, but it is most common in areas exposed to sunlight, such as the face, neck, hands, and arms. Skin cancer is the most common cancer in the United States. Basal cell carcinoma and squamous cell carcinoma are the most common types of skin cancer in the United States. The number of new cases of nonmelanoma skin cancer appears to be increasing every year. These nonmelanoma skin cancers can usually be cured. The number of new cases of melanoma has been increasing for at least 30 years. Melanoma is more likely to spread to nearby tissues and other parts of the body and can be harder to cure. Finding and treating melanoma skin cancer early may help prevent death from melanoma. </s>

<s>[INST] Human: What is (are) multiple sclerosis ? [/INST] Assistant: Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system. Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse. There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen. Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40. Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms. </s>

<s>[INST] Human: How many people are affected by LAMA2-related muscular dystrophy ? [/INST] Assistant: The prevalence of early-onset LAMA2-related muscular dystrophy is estimated at 1 in 30,000 individuals. This condition accounts for between 30 and 40 percent of total cases of congenital muscular dystrophy, although its contribution may be higher or lower than this range in specific populations. Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown. </s>

<s>[INST] Human: What are the treatments for Age-related Macular Degeneration ? [/INST] Assistant: Wet AMD can be treated with laser surgery, photodynamic therapy, and drugs that are injected into the eye. None of these treatments is a cure for wet AMD. The disease and loss of vision may progress despite treatment. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Narcolepsy ? [/INST] Assistant: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research into narcolepsy and other sleep disorders in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. The NINDS continues to support investigations into the basic biology of sleep, including the brain mechanisms involved in generating and regulating sleep. Within the National Heart, Lung, and Blood Institute, also a component of the NIH, the National Center on Sleep Disorders Research (NCSDR) coordinates Federal government sleep research activities and shares information with private and nonprofit groups. </s>

<s>[INST] Human: What is (are) Book syndrome ? [/INST] Assistant: Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Cushing's Syndrome ? [/INST] Assistant: NINDS supports research on Cushing's syndrome aimed at finding new ways to diagnose, treat, and cure the disorder. </s>

<s>[INST] Human: How many people are affected by uromodulin-associated kidney disease ? [/INST] Assistant: The prevalence of uromodulin-associated kidney disease is unknown. It accounts for fewer than 1 percent of cases of kidney disease. </s>

<s>[INST] Human: What are the treatments for Kawasaki syndrome ? [/INST] Assistant: How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan. We found limited information on the management of Kawasaki disease specifically in adults, however you may find the following articles to be helpful: Dauphin C. et al., Kawasaki disease is also a disease of adults: report of six cases. Arch Mal Coeur Vaiss [serial online]. 2007;100(5):439-447. Sve P, Stankovic K, Smail A, Durand DV, Marchand G, and Broussolle C. Adult Kawasaki disease: report of two cases and literature review. Semin Arthritis Rheum. 2005;34(6):785-792. Sve P, Bui-Xuan C, Charhon A, and Broussolle C. Adult Kawasaki disease. Rev Med Interne [serial online]. 2003;24(9):577-584.In the article listed above by Dauphin C. et al. the authors describe that of the five adult patients with Kawasaki disease who were treated, all progressed favorably after a course of immunoglobulins. In addition, in the article by Sve P. et al., the authors comment that 'although adult KD often was diagnosed after the acute phase, when a significant beneficial effect from gammaglobulin infusion could not be expected, this treatment did appear to shorten the course of the disease.' </s>

<s>[INST] Human: What are the treatments for Anonychia congenita ? [/INST] Assistant: How might anonychia congenita be treated? There is limited information regarding anonychia congenita because it is very rare. After a careful review of the medical literature, we did not find any information about treatment for this condition. </s>

<s>[INST] Human: What is (are) Intestinal Obstruction ? [/INST] Assistant: An intestinal obstruction occurs when food or stool cannot move through the intestines. The obstruction can be complete or partial. There are many causes. The most common are adhesions, hernias, cancers, and certain medicines. Symptoms include - Severe abdominal pain or cramping - Vomiting - Bloating - Loud bowel sounds - Swelling of the abdomen - Inability to pass gas - Constipation A complete intestinal obstruction is a medical emergency. It often requires surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases </s>

<s>[INST] Human: What is (are) Retinoblastoma ? [/INST] Assistant: Key Points - Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina. - Retinoblastoma occurs in heritable and nonheritable forms. - Treatment for both forms of retinoblastoma should include genetic counseling. - Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma. - A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers. - Signs and symptoms of retinoblastoma include "white pupil" and eye pain or redness. - Tests that examine the retina are used to detect (find) and diagnose retinoblastoma. - Certain factors affect prognosis (chance of recovery) and treatment options. Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina. The retina is the nerve tissue that lines the inside of the back of the eye. The retina senses light and sends images to the brain by way of the optic nerve. Although retinoblastoma may occur at any age, it occurs most often in children younger than 2 years. The cancer may be in one eye (unilateral) or in both eyes (bilateral). Retinoblastoma rarely spreads from the eye to nearby tissue or other parts of the body. Cavitary retinoblastoma is a rare type of retinoblastoma in which cavities (hollow spaces) form within the tumor. Treatment for both forms of retinoblastoma should include genetic counseling. Parents should receive genetic counseling (a discussion with a trained professional about the risk of genetic diseases) to discuss genetic testing to check for a mutation (change) in the RB1 gene. Genetic counseling also includes a discussion of the risk of retinoblastoma for the child and the child's brothers or sisters. </s>

<s>[INST] Human: Who is at risk for Small Cell Lung Cancer? ? [/INST] Assistant: Smoking is the major risk factor for small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for lung cancer. Risk factors for lung cancer include the following: - Smoking cigarettes, pipes, or cigars, now or in the past. This is the most important risk factor for lung cancer. The earlier in life a person starts smoking, the more often a person smokes, and the more years a person smokes, the greater the risk of lung cancer. - Being exposed to secondhand smoke. - Being exposed to radiation from any of the following: - Radiation therapy to the breast or chest. - Radon in the home or workplace. - Imaging tests such as CT scans. - Atomic bomb radiation. - Being exposed to asbestos, chromium, nickel, beryllium, arsenic, soot, or tar in the workplace. - Living where there is air pollution. - Having a family history of lung cancer. - Being infected with the human immunodeficiency virus (HIV). - Taking beta carotene supplements and being a heavy smoker. Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. When smoking is combined with other risk factors, the risk of lung cancer is increased. </s>

<s>[INST] Human: How many people are affected by lung cancer ? [/INST] Assistant: In the United States, it is estimated that more than 221,000 people develop lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Approximately 6.6 percent of individuals will develop lung cancer during their lifetime. It is the leading cause of cancer deaths, accounting for an estimated 27 percent of all cancer deaths in the United States. </s>

<s>[INST] Human: What is (are) Beare-Stevenson cutis gyrata syndrome ? [/INST] Assistant: Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability. A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region. Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood. </s>

<s>[INST] Human: What are the treatments for Anemia in Chronic Kidney Disease ? [/INST] Assistant: Depending on the cause, a health care provider treats anemia with one or more of the following treatments: Iron The first step in treating anemia is raising low iron levels. Iron pills may help improve iron and hemoglobin levels. However, for patients on hemodialysis, many studies show pills do not work as well as iron given intravenously.2 Erythropoietin If blood tests indicate kidney disease as the most likely cause of anemia, treatment can include injections of a genetically engineered form of EPO. A health care provider, often a nurse, injects the patient with EPO subcutaneously, or under the skin, as needed. Some patients learn how to inject the EPO themselves. Patients on hemodialysis may receive EPO intravenously during hemodialysis. Studies have shown the use of EPO increases the chance of cardiovascular events, such as heart attack and stroke, in people with CKD. The health care provider will carefully review the medical history of the patient and determine if EPO is the best treatment for the patients anemia. Experts recommend using the lowest dose of EPO that will reduce the need for red blood cell transfusions. Additionally, health care providers should consider the use of EPO only when a patients hemoglobin level is below 10 g/dL. Health care providers should not use EPO to maintain a patients hemoglobin level above 11.5 g/dL.2 Patients who receive EPO should have regular blood tests to monitor their hemoglobin so the health care provider can adjust the EPO dose when the level is too high or too low.2 Health care providers should discuss the benefits and risks of EPO with their patients. Many people with kidney disease need iron supplements and EPO to raise their red blood cell count to a level that will reduce the need for red blood cell transfusions. In some people, iron supplements and EPO will improve the symptoms of anemia. Red Blood Cell Transfusions If a patients hemoglobin falls too low, a health care provider may prescribe a red blood cell transfusion. Transfusing red blood cells into the patients vein raises the percentage of the patients blood that consists of red blood cells, increasing the amount of oxygen available to the body. Vitamin B12 and Folic Acid Supplements A health care provider may suggest vitamin B12 and folic acid supplements for some people with CKD and anemia. Using vitamin supplements can treat low levels of vitamin B12 or folic acid and help treat anemia. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements, with their health care provider. Read more about vitamin B12 and folic acid on the MedlinePlus website at www.nlm.nih.gov/medlineplus. Read more about complementary and alternative medicine at www.nccam.nih.gov. </s>

<s>[INST] Human: How to diagnose Alzheimer's Caregiving ? [/INST] Assistant: Now that your family member or friend has received a diagnosis of Alzheimers disease, its important to learn as much as you can about the disease and how to care for someone who has it. You may also want to know the right way to share the news with family and friends. Learning About Alzheimers Sometimes, you may feel that you don't know how to care for the person with Alzheimers. This is a common feeling among caregivers of people with Alzheimers because each day may bring different challenges. Learning about the disease can help you understand and cope with these challenges. Here is some information about Alzheimers and ways you can learn more about it. Alzheimers disease is an illness of the brain. It causes large numbers of nerve cells in the brain to die. This affects a persons ability to remember things and think clearly. People with Alzheimers become forgetful and easily confused and may have a hard time concentrating. They may have trouble taking care of themselves and doing basic things like making meals, bathing, and getting dressed. Alzheimers varies from person to person. It can progress faster in some people than in others, and not everyone will have the same symptoms. In general, though, Alzheimers takes many years to develop, becoming increasingly severe over time. As the disease gets worse, people need more help. Eventually, they require total care. Alzheimer's disease consists of three main stages: mild (sometimes called early-stage), moderate, and severe (sometimes called late-stage). Understanding these stages can help you care for your loved one and plan ahead. Mild Alzheimers Disease In the mild stage of Alzheimers, people often have some memory loss and small changes in personality. They may have trouble remembering recent events or the names of familiar people or things. They may no longer be able to solve simple math problems or balance a checkbook. People with mild Alzheimers also slowly lose the ability to plan and organize. For example, they may have trouble making a grocery list and finding items in the store. Moderate Alzheimers Disease In the moderate stage of Alzheimers, memory loss and confusion become more obvious. People have more trouble organizing, planning, and following instructions. They may need help getting dressed and may start having problems with bladder or bowel control. People with moderate Alzheimers may have trouble recognizing family members and friends. They may not know where they are or what day or year it is. They also may begin to wander, so they should not be left alone. Personality changes can become more serious. For example, people may make threats or accuse others of stealing. Severe Alzheimers Disease In the severe stage of Alzheimer's, people usually need help with all of their daily needs. They may not be able to walk or sit up without help. They may not be able to talk and often cannot recognize family members. They may have trouble swallowing and refuse to eat. For a short overview of Alzheimers, see Understanding Alzheimers Disease: What You Need to Know. Learn More About Alzheimers Disease So far, there is no cure for Alzheimers, but there are treatments that can prevent some symptoms from getting worse for a limited time. Here are some ways you can learn more about Alzheimers disease. - Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. - Check out books or videos about Alzheimers from the library. - Go to educational programs about the disease. - Visit the website of the National Institute on Agings Alzheimers Disease Education and Referral (ADEAR) Center. The Institute has a guide, Caring for a Person with Alzheimers Disease,which can be viewed online and ordered in print. - Read about Alzheimers disease on NIHSeniorHealth. - Find a support group for caregivers, ideally one in which members are taking care of someone who is in the same stage of Alzheimers as the person you are caring for. Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. Check out books or videos about Alzheimers from the library. Go to educational programs about the disease. Visit the website of the National Institute on Agings Alzheimers Disease Education and Referral (ADEAR) Center. The Institute has a guide, Caring for a Person with Alzheimers Disease,which can be viewed online and ordered in print. Read about Alzheimers disease on NIHSeniorHealth. Find a support group for caregivers, ideally one in which members are taking care of someone who is in the same stage of Alzheimers as the person you are caring for. Talking With Family and Friends When you learn that someone has Alzheimers disease, you may wonder when and how to tell your family and friends. You may be worried about how others will react to or treat the person. Others often sense that something is wrong before they are told. Alzheimers disease is hard to keep secret. When the time seems right, be honest with family, friends, and others. Use this as a chance to educate them about Alzheimers disease. You can share information to help them understand what you and the person with Alzheimers are going through. You can also tell them what they can do to help. You can help family and friends understand how to interact with the person who has Alzheimers. - Help them realize what the person can still do and how much he or she can still understand. - Give them suggestions about how to start talking with the person. For example, "Hello George, I'm John. We used to work together." - Help them avoid correcting the person with Alzheimers if he or she makes a mistake or forgets something. - Help them plan fun activities with the person, such as going to family reunions or visiting old friends. Help them realize what the person can still do and how much he or she can still understand. Give them suggestions about how to start talking with the person. For example, "Hello George, I'm John. We used to work together." Help them avoid correcting the person with Alzheimers if he or she makes a mistake or forgets something. Help them plan fun activities with the person, such as going to family reunions or visiting old friends. Helping Children Understand Alzheimers If the person with Alzheimers has young children or grandchildren, you can help them understand what is happening. Answer their questions simply and honestly. For example, you might tell a young child, "Grandma has an illness that makes it hard for her to remember things." Know that their feelings of sadness and anger are normal. Comfort them. Tell them they didn't cause the disease. If the child lives with someone who has Alzheimers, don't expect him or her to "babysit" the person. Make sure the child has time for his or her own interests and needs, such as playing with friends and going to school activities. Spend time with the child, so he or she doesn't feel that all your attention is on the person with Alzheimers. Many younger children will look to you to see how to act around the person with Alzheimers disease. Show children they can still talk with the person and help them enjoy things. Doing fun things together, like arts and crafts or looking through photo albums, can help both the child and the person with Alzheimer's. Challenges for Teens A teenager might find it hard to accept how the person with Alzheimers has changed. He or she may find the changes upsetting or embarrassing and not want to be around the person. Talk with teenagers about their concerns and feelings. Don't force them to spend time with the person who has Alzheimers. Get more information about helping family and friends understand Alzheimers disease. </s>

<s>[INST] Human: What is (are) Salmonella Infections ? [/INST] Assistant: Salmonella is the name of a group of bacteria. In the United States, it is a common cause of foodborne illness. Salmonella occurs in raw poultry, eggs, beef, and sometimes on unwashed fruit and vegetables. You also can get infected after handling pets, especially reptiles like snakes, turtles, and lizards. Symptoms include - Fever - Diarrhea - Abdominal cramps - Headache - Possible nausea, vomiting, and loss of appetite Symptoms usually last 4-7 days. Your health care provider diagnoses the infection with a stool test. Most people get better without treatment. Infection can be more serious in the elderly, infants, and people with chronic health problems. If Salmonella gets into the bloodstream, it can be serious. The usual treatment is antibiotics. Typhoid fever, a more serious disease caused by Salmonella, is not common in the United States. It frequently occurs in developing countries. NIH: National Institute of Allergy and Infectious Diseases </s>

<s>[INST] Human: What is (are) Congenital dyserythropoietic anemia type 2 ? [/INST] Assistant: Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder. </s>

<s>[INST] Human: What is (are) nonbullous congenital ichthyosiform erythroderma ? [/INST] Assistant: Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red (erythema) and covered with fine white scales. Some people with NBCIE have outward turning eyelids and lips, a thickening of the skin on the palms and soles of the feet (keratoderma), and nails that do not grow normally (nail dystrophy). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life. </s>

<s>[INST] Human: How to diagnose Stroke ? [/INST] Assistant: Doctors have several techniques and imaging tools to help diagnose stroke quickly and accurately. The first step in diagnosis is a short neurological examination, or an evaluation of the nervous system. When a possible stroke patient arrives at a hospital, a health care professional, usually a doctor or nurse, will ask the patient or a companion what happened and when the symptoms began. Blood tests, an electrocardiogram, and a brain scan such as computed tomography (CT) or magnetic resonance imaging (MRI) will often be done. </s>

<s>[INST] Human: What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ? [/INST] Assistant: What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial 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) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - 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 the outlook for Childhood Soft Tissue Sarcoma ? [/INST] Assistant: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The part of the body where the tumor first formed. - The size and grade of the tumor. - The type of soft tissue sarcoma. - How deep the tumor is under the skin. - Whether the tumor has spread to other places in the body. - The amount of tumor remaining after surgery to remove it. - Whether radiation therapy was used to treat the tumor. - The age and gender of the patient. - Whether the cancer has just been diagnosed or has recurred (come back). </s>

<s>[INST] Human: What are the symptoms of Froelich syndrome ? [/INST] Assistant: What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. Some children with Froehlich syndrome may have mental retardation, difficulties with vision, and in rare cases diabetes. Other symptoms of the syndrome may include excessive thirst, excessive urination, and very delicate skin. </s>

<s>[INST] Human: What are the treatments for neuropathy, ataxia, and retinitis pigmentosa ? [/INST] Assistant: These resources address the diagnosis or management of NARP: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Neuropathy ataxia retinitis pigmentosa syndrome - MedlinePlus Encyclopedia: Retinitis pigmentosa 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: Is Fuchs endothelial corneal dystrophy inherited ? [/INST] Assistant: How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional. </s>

<s>[INST] Human: What are the treatments for Cowden syndrome ? [/INST] Assistant: How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Cancer Screening for Women Breast self exams beginning at age 18 Clinical breast exams every 6-12 months beginning at age 25** Annual mammogram and breast MRI beginning at age 30-35** Annual screening for endometrial cancer with ultrasound and/or random biopsy may be considered beginning at age 30-35 Prophylactic surgeries may be considered as a preventative option for some forms of cancer Cancer Screening for Men and Women Annual physical examination beginning at age 18** Annual thyroid ultrasound beginning at age 18** Baseline colonoscopy at age 35 with follow-up every 5 years (more frequent if polyps identified) Consider renal (kidney) ultrasound every 1-2 years beginning at age 40 **or individualized based on the earliest diagnosis of cancer in the family GeneReviews offers more specific information on the treatment and management of Cowden syndrome. To access this resource, please click here. </s>

<s>[INST] Human: What is (are) Ankylosing Spondylitis ? [/INST] Assistant: Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints. AS is more common and more severe in men. It often runs in families. The cause is unknown, but it is likely that both genes and factors in the environment play a role. Early symptoms of AS include back pain and stiffness. These problems often start in late adolescence or early adulthood. Over time, AS can fuse your vertebrae together, limiting movement. Some people have symptoms that come and go. Others have severe, ongoing pain. A diagnosis of AS is based on your medical history and a physical examination. You may also have imaging or blood tests. AS has no cure, but medicines can relieve symptoms and may keep the disease from getting worse. Eating a healthy diet, not smoking, and exercising can also help. In rare cases, you may need surgery to straighten the spine. NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease </s>

<s>[INST] Human: What are the treatments for Breast Cancer ? [/INST] Assistant: There are a number of treatments for breast cancer, but the ones women choose most often -- alone or in combination -- are surgery, hormone therapy, radiation therapy, and chemotherapy. What Standard Treatments Do Here is what the standard cancer treatments are designed to do. - Surgery takes out the cancer and some surrounding tissue. - Hormone therapy keeps cancer cells from getting most of the hormones they need to survive and grow. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. - Chemotherapy uses anti-cancer drugs to kill most cancer cells. Surgery takes out the cancer and some surrounding tissue. Hormone therapy keeps cancer cells from getting most of the hormones they need to survive and grow. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. Chemotherapy uses anti-cancer drugs to kill most cancer cells. Treatment for breast cancer may involve local or whole body therapy. Doctors use local therapies, such as surgery or radiation, to remove or destroy breast cancer in a specific area. Whole body, or systemic, treatments like chemotherapy, hormonal, or biological therapies are used to destroy or control cancer throughout the body. Some patients have both kinds of treatment. Treating Early-Stage Breast Cancer If you have early-stage breast cancer, one common treatment available to you is a lumpectomy combined with radiation therapy. A lumpectomy is surgery that preserves a woman's breast. In a lumpectomy, the surgeon removes only the tumor and a small amount of the surrounding tissue. The survival rate for a woman who has this therapy plus radiation is similar to that for a woman who chooses a radical mastectomy, which is complete removal of a breast. If Cancer Has Spread Locally If you have breast cancer that has spread locally -- just to other parts of the breast -- your treatment may involve a combination of chemotherapy and surgery. Doctors usually first shrink the tumor with chemotherapy and then remove it through surgery. Shrinking the tumor before surgery may allow a woman to avoid a mastectomy and keep her breast. In the past, doctors would remove a lot of lymph nodes near breast tumors to see if the cancer had spread. Some doctors also use a method called sentinel node biopsy. Using a dye or radioactive tracer, surgeons locate the first or sentinel lymph node closest to the tumor, and remove only that node to see if the cancer has spread. If Cancer Has Spread Beyond the Breast If the breast cancer has spread to other parts of the body, such as the lung or bone, you might receive chemotherapy and/or hormonal therapy to destroy cancer cells and control the disease. Radiation therapy may also be useful to control tumors in other parts of the body. Get more information about treatment options for breast cancer and for recurrent breast cancer. </s>

<s>[INST] Human: What is (are) Irritable Bowel Syndrome ? [/INST] Assistant: Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel habits. Some people with the disorder have constipation. Some have diarrhea. Others go back and forth between the two. Although IBS can cause a great deal of discomfort, it does not harm the intestines. IBS is common. It affects about twice as many women as men and is most often found in people younger than 45 years. No one knows the exact cause of IBS. There is no specific test for it. Your doctor may run tests to be sure you don't have other diseases. These tests may include stool sampling tests, blood tests, and x-rays. Your doctor may also do a test called a sigmoidoscopy or colonoscopy. Most people diagnosed with IBS can control their symptoms with diet, stress management, probiotics, and medicine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases </s>

<s>[INST] Human: How many people are affected by Stormorken syndrome ? [/INST] Assistant: Stormorken syndrome is a rare disorder. Approximately a dozen cases have been reported in the medical literature. </s>

<s>[INST] Human: What are the genetic changes related to Griscelli syndrome ? [/INST] Assistant: The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene. The proteins produced from these genes are found in pigment-producing cells called melanocytes. Within these cells, the proteins work together to transport structures called melanosomes. These structures produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color (pigmentation). Melanosomes are formed near the center of melanocytes, but they must be transported to the outer edge of these cells and then transferred into other types of cells to provide normal pigmentation. Mutations in any of the three genes, MYO5A, RAB27A, or MLPH, impair the normal transport of melanosomes within melanocytes. As a result, these structures clump near the center of melanocytes, trapping melanin within these cells and preventing normal pigmentation of skin and hair. The clumps of pigment, which can be seen in hair shafts when viewed under a microscope, are a hallmark feature of the condition. In addition to their roles in melanosome transport, the MYO5A and RAB27A genes have functions elsewhere in the body. Specifically, the protein produced from the MYO5A gene transports materials within nerve cells (neurons) that appear to be critical for cell function. The protein produced from the RAB27A gene is found in immune system cells, where it is involved in the release of certain compounds that kill foreign invaders (such as viruses and bacteria). Mutations in these genes impair these critical cell activities, leading to the neurological problems and immune system abnormalities found in Griscelli syndrome types 1 and 2, respectively. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Childhood Brain Stem Glioma ? [/INST] Assistant: New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. </s>

<s>[INST] Human: How many people are affected by spinocerebellar ataxia type 1 ? [/INST] Assistant: SCA1 affects 1 to 2 per 100,000 people worldwide. </s>

<s>[INST] Human: What is (are) Transitional Cell Cancer of the Renal Pelvis and Ureter ? [/INST] Assistant: Key Points - Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter. - Misuse of certain pain medicines can affect the risk of transitional cell cancer of the renal pelvis and ureter. - Signs and symptoms of transitional cell cancer of the renal pelvis and ureter include blood in the urine and back pain. - Tests that examine the abdomen and kidneys are used to detect (find) and diagnose transitional cell cancer of the renal pelvis and ureter. - Certain factors affect prognosis (chance of recovery) and treatment options. Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter. The renal pelvis is the top part of the ureter. The ureter is a long tube that connects the kidney to the bladder. There are two kidneys, one on each side of the backbone, above the waist. The kidneys of an adult are about 5 inches long and 3 inches wide and are shaped like a kidney bean. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine collects in the middle of each kidney in the renal pelvis. Urine passes from the renal pelvis through the ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. The renal pelvis and ureters are lined with transitional cells. These cells can change shape and stretch without breaking apart. Transitional cell cancer starts in these cells. Transitional cell cancer can form in the renal pelvis or the ureter or both. Renal cell cancer is a more common type of kidney cancer. See the PDQ summary about Renal Cell Cancer Treatment for more information. </s>

<s>[INST] Human: What are the treatments for Kienbock's disease ? [/INST] Assistant: What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation. </s>

<s>[INST] Human: What are the genetic changes related to Miyoshi myopathy ? [/INST] Assistant: Miyoshi myopathy is caused by mutations in the DYSF or ANO5 gene. When this condition is caused by ANO5 gene mutations it is sometimes referred to as distal anoctaminopathy. The DYSF and ANO5 genes provide instructions for making proteins primarily found in muscles that are used for movement (skeletal muscles). The protein produced from the DYSF gene, called dysferlin, is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain. The ANO5 gene provides instructions for making a protein called anoctamin-5. This protein is located within the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. Anoctamin-5 is thought to act as a channel, allowing charged chlorine atoms (chloride ions) to flow in and out of the endoplasmic reticulum. The regulation of chloride flow within muscle cells plays a role in controlling muscle tensing (contraction) and relaxation. DYSF or ANO5 gene mutations often result in a decrease or elimination of the corresponding protein. A lack of dysferlin leads to a reduced ability to repair damage done to the sarcolemma of muscle fibers. As a result, damage accumulates and leads to atrophy of the muscle fiber. It is unclear why this damage leads to the specific pattern of weakness and atrophy that is characteristic of Miyoshi myopathy. The effects of the loss of anoctamin-5 are also unclear. While chloride is necessary for normal muscle function, it is unknown how a lack of this chloride channel causes the signs and symptoms of Miyoshi myopathy. </s>

<s>[INST] Human: What are the symptoms of Amyloidosis familial visceral ? [/INST] Assistant: What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cholestasis - Edema - Generalized amyloid deposition - Hematuria - Hepatomegaly - Hypertension - Nephropathy - Nephrotic syndrome - Proteinuria - Skin rash - Splenomegaly - 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 6q24-related transient neonatal diabetes mellitus ? [/INST] Assistant: These resources address the diagnosis or management of 6q24-related transient neonatal diabetes mellitus: - Gene Review: Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal - Genetic Testing Registry: Transient neonatal diabetes mellitus 1 - The Merck Manual for Healthcare Professionals - University of Chicago Kovler Diabetes Center 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 Urinary Incontinence in Men ? [/INST] Assistant: Treatment depends on the type of UI. Urgency Incontinence As a first line of therapy for urgency incontinence, a health care professional may recommend the following techniques to treat a mans problem: - behavioral and lifestyle changes - bladder training - pelvic floor exercises - urgency suppression If those treatments are not successful, the following additional measures may help urgency incontinence: - medications - electrical nerve stimulation - bulking agents - surgery A health care professional may recommend other treatments for men with urgency incontinence caused by BPH. More information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia. Behavioral and lifestyle changes. Men with urgency incontinence may be able to reduce leaks by making behavioral and lifestyle changes: - Eating, diet, and nutrition. Men with urgency incontinence can change the amount and type of liquid they drink. A man can try limiting bladder irritantsincluding caffeinated drinks such as tea or coffee and carbonated beveragesto decrease leaks. Men also should limit alcoholic drinks, which can increase urine production. A health care professional can help a man determine how much he should drink based on his health, how active he is, and where he lives. To decrease nighttime trips to the restroom, men may want to stop drinking liquids several hours before bed. - Engaging in physical activity. Although a man may be reluctant to engage in physical activity when he has urgency incontinence, regular exercise is important for good overall health and for preventing and treating UI. - Losing weight. Men who are overweight should talk with a health care professional about strategies for losing weight, which can help improve UI. - Preventing constipation. Gastrointestinal (GI) problems, especially constipation, can make urinary tract health worse and can lead to UI. The opposite is also true: Urinary problems, such as UI, can make GI problems worse. More information about how to prevent constipation through diet and physical activity is provided in the NIDDK health topic, Constipation. To Help Prevent Bladder Problems, Stop Smoking People who smoke should stop. Quitting smoking at any age promotes bladder health and overall health. Smoking increases a persons chance of developing stress incontinence, as it increases coughing. Some people say smoking worsens their bladder irritation. Smoking causes most cases of bladder cancer. People who smoke for many years have a higher risk of bladder cancer than nonsmokers or those who smoke for a short time.2 People who smoke should ask for help so they do not have to try quitting alone. Call 1-800-QUITNOW (1-800-784-8669) for more information. Bladder training. Bladder training is changing urination habits to decrease incidents of UI. The health care professional may suggest a man use the restroom at regular timed intervals, called timed voiding, based on the mans bladder diary. A man can gradually lengthen the time between trips to the restroom to help stretch the bladder so it can hold more urine. Pelvic floor muscle exercises. Pelvic floor muscle, or Kegel, exercises involve strengthening pelvic floor muscles. Strong pelvic floor muscles hold in urine more effectively than weak muscles. A man does not need special equipment for Kegel exercises. The exercises involve tightening and relaxing the muscles that control urine flow. Pelvic floor exercises should not be performed during urination. A health care professional can help a man learn proper technique. More information is provided in the NIDDK health topic, Kegel Exercise Tips. Men also may learn how to perform Kegel exercises properly by using biofeedback. Biofeedback uses special sensors to measure bodily functions, such as muscle contractions that control urination. A video monitor displays the measurements as graphs, and sounds indicate when the man is using the correct muscles. The health care professional uses the information to help the man change abnormal function of the pelvic floor muscles. At home, the man practices to improve muscle function. The man can perform the exercises while lying down, sitting at a desk, or standing up. Success with pelvic floor exercises depends on the cause of UI, its severity, and the mans ability to perform the exercises. Urgency suppression. By using certain techniques, a man can suppress the urge to urinate, called urgency suppression. Urgency suppression is a way for a man to train his bladder to maintain control so he does not have to panic about finding a restroom. Some men use distraction techniques to take their mind off the urge to urinate. Other men find taking long, relaxing breaths and being still can help. Doing pelvic floor exercises also can help suppress the urge to urinate. Medications. Health care professionals may prescribe medications that relax the bladder, decrease bladder spasms, or treat prostate enlargement to treat urgency incontinence in men. - Antimuscarinics. Antimuscarinics can help relax bladder muscles and prevent bladder spasms. These medications include oxybutynin (Oxytrol), tolterodine (Detrol), darifenacin (Enablex), trospium (Sanctura), fesoterodine (Toviaz), and solifenacin (VESIcare). They are available in pill, liquid, and patch form. - Tricyclic antidepressants. Tricyclic antidepressants such as imipramine (Tofranil) can calm nerve signals, decreasing spasms in bladder muscles. - Alpha-blockers. Terazosin (Hytrin), doxazosin (Cardura), tamsulosin (Flomax), alfuzosin (Uroxatral), and silodosin (Rapaflo) are used to treat problems caused by prostate enlargement and bladder outlet obstruction. These medications relax the smooth muscle of the prostate and bladder neck, which lets urine flow normally and prevents abnormal bladder contractions that can lead to urgency incontinence. - 5-alpha reductase inhibitors. Finasteride (Proscar) and dutasteride (Avodart) block the production of the male hormone dihydrotestosterone, which accumulates in the prostate and may cause prostate growth. These medications may help to relieve urgency incontinence problems by shrinking an enlarged prostate. - Beta-3 agonists. Mirabegron (Myrbetriq) is a beta-3 agonist a person takes by mouth to help prevent symptoms of urgency incontinence. Mirabegron suppresses involuntary bladder contractions. - Botox. A health care professional may use onabotulinumtoxinA (Botox), also called botulinum toxin type A, to treat UI in men with neurological conditions such as spinal cord injury or multiple sclerosis. Injecting Botox into the bladder relaxes the bladder, increasing storage capacity and decreasing UI. A health care professional performs the procedure during an office visit. A man receives local anesthesia. The health care professional uses a cystoscope to guide the needle for injecting the Botox. Botox is effective for up to 10 months.3 Electrical nerve stimulation. If behavioral and lifestyle changes and medications do not improve symptoms, a urologist may suggest electrical nerve stimulation as an option to prevent UI, urinary frequencyurination more often than normaland other symptoms. Electrical nerve stimulation involves altering bladder reflexes using pulses of electricity. The two most common types of electrical nerve stimulation are percutaneous tibial nerve stimulation and sacral nerve stimulation.4 - Percutaneous tibial nerve stimulation uses electrical stimulation of the tibial nerve, which is located in the ankle, on a weekly basis. The patient receives local anesthesia for the procedure. In an outpatient center, a urologist inserts a battery-operated stimulator beneath the skin near the tibial nerve. Electrical stimulation of the tibial nerve prevents bladder activity by interfering with the pathway between the bladder and the spinal cord or brain. Although researchers consider percutaneous tibial nerve stimulation safe, they continue to study the exact ways that it prevents symptoms and how long the treatment can last. - Sacral nerve stimulation involves implanting a battery-operated stimulator beneath the skin in the lower back near the sacral nerve. The procedure takes place in an outpatient center using local anesthesia. Based on the patients feedback, the health care professional can adjust the amount of stimulation so it works best for that individual. The electrical pulses enter the body for minutes to hours, two or more times a day, either through wires placed on the lower back or just above the pubic areabetween the navel and the pubic hair. Sacral nerve stimulation may increase blood flow to the bladder, strengthen pelvic muscles that help control the bladder, and trigger the release of natural substances that block pain. The patient can turn the stimulator on or off at any time. A patient may consider getting an implanted device that delivers regular impulses to the bladder. A urologist places a wire next to the tailbone and attaches it to a permanent stimulator under the skin. Bulking agents. A urologist injects bulking agents, such as collagen and carbon spheres, near the urinary sphincter to treat incontinence. The bulking agent makes the tissues thicker and helps close the bladder opening. Before the procedure, the health care professional may perform a skin test to make sure the man doesnt have an allergic reaction to the bulking agent. A urologist performs the procedure during an office visit. The man receives local anesthesia. The urologist uses a cystoscopea tubelike instrument used to look inside the urethra and bladderto guide the needle for injection of the bulking agent. Over time, the body may slowly eliminate certain bulking agents, so a man may need to have injections again. Surgery. As a last resort, surgery to treat urgency incontinence in men includes the artificial urinary sphincter (AUS) and the male sling. A health care professional performs the surgery in a hospital with regional or general anesthesia. Most men can leave the hospital the same day, although some may need to stay overnight. - AUS. An AUS is an implanted device that keeps the urethra closed until the man is ready to urinate. The device has three parts: a cuff that fits around the urethra, a small balloon reservoir placed in the abdomen, and a pump placed in the scrotumthe sac that holds the testicles. The cuff contains a liquid that makes it fit tightly around the urethra to prevent urine from leaking. When it is time to urinate, the man squeezes the pump with his fingers to deflate the cuff. The liquid moves to the balloon reservoir and lets urine flow through the urethra. When the bladder is empty, the cuff automatically refills in the next 2 to 5 minutes to keep the urethra tightly closed. - Male sling. A health care professional performs a sling procedure, also called urethral compression procedure, to add support to the urethra, which can sometimes better control urination. Through an incision in the tissue between the scrotum and the rectum, also called the perineum, the health care professional uses a piece of human tissue or mesh to compress the urethra against the pubic bone. The surgeon secures the ends of the tissue or mesh around the pelvic bones. The lifting and compression of the urethra sometimes provides better control over urination. Stress Incontinence Men who have stress incontinence can use the same techniques for treating urgency incontinence. Functional Incontinence Men with functional incontinence may wear protective undergarments if they worry about reaching a restroom in time. These products include adult diapers or pads and are available from drugstores, grocery stores, and medical supply stores. Men who have functional incontinence should talk to a health care professional about its cause and how to prevent or treat functional incontinence. Overflow Incontinence A health care professional treats overflow incontinence caused by a blockage in the urinary tract with surgery to remove the obstruction. Men with overflow incontinence that is not caused by a blockage may need to use a catheter to empty the bladder. A catheter is a thin, flexible tube that is inserted through the urethra into the bladder to drain urine. A health care professional can teach a man how to use a catheter. A man may need to use a catheter once in a while, a few times a day, or all the time. Catheters that are used continuously drain urine from the bladder into a bag that is attached to the mans thigh with a strap. Men using a continuous catheter should watch for symptoms of an infection. Transient Incontinence A health care professional treats transient incontinence by addressing the underlying cause. For example, if a medication is causing increased urine production leading to UI, a health care professional may try lowering the dose or prescribing a different medication. A health care professional may prescribe bacteria-fighting medications called antibiotics to treat UTIs. </s>

<s>[INST] Human: What is (are) Amyotrophic lateral sclerosis ? [/INST] Assistant: Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). As the disease progresses, individuals become weaker are are eventually wheelchair-dependent. Death often results from respiratory failure within 2 to 10 years after the onset of symptoms. Most affected individuals have a sporadic (not inherited) form of ALS; about 5-10% have a familial (inherited) form of the condition. Familial ALS may caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. Treatment is generally supportive. </s>

<s>[INST] Human: What are the symptoms of Teebi Kaurah syndrome ? [/INST] Assistant: What are the signs and symptoms of Teebi Kaurah syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Kaurah 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) Anonychia 90% Aplastic/hypoplastic toenail 90% Microcephaly 50% Single transverse palmar crease 50% Carious teeth 7.5% Clinodactyly of the 5th finger 7.5% Sloping forehead 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>

<s>[INST] Human: What are the symptoms of Axenfeld-Rieger syndrome type 2 ? [/INST] Assistant: What are the signs and symptoms of Axenfeld-Rieger syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Posterior embryotoxon 90% Glaucoma 50% Hearing impairment 50% Malar flattening 50% Abnormality of the hypothalamus-pituitary axis 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Telecanthus 7.5% Urogenital fistula 7.5% Abnormality of cardiovascular system morphology - Anal stenosis - Anterior chamber synechiae - Autosomal dominant inheritance - Blindness - Cryptorchidism - Hydrocephalus - Hypodontia - Hypoplasia of the maxilla - Hypospadias - Inguinal hernia - Mandibular prognathia - Microcornea - Opacification of the corneal stroma - Short philtrum - Umbilical hernia - 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) Chronic intestinal pseudoobstruction ? [/INST] Assistant: Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. Some people with primary CIPO have gain or loss of genetic material in the FLNA gene. The diagnosis of CIPO is clinical and other conditions with similar symptoms should be ruled out. Treatment may include nutritional support, medications, decompression or surgery. Management may require specialists from a variety of backgrounds. </s>

<s>[INST] Human: What are the treatments for congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? [/INST] Assistant: These resources address the diagnosis or management of CHILD syndrome: - Gene Review: Gene Review: NSDHL-Related Disorders - Genetic Testing Registry: Child 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 is (are) Medicare and Continuing Care ? [/INST] Assistant: Here are some questions to ask when considering choosing a nursing home. You may want to make surprise visits at different times of the day to verify conditions. - Is the nursing home Medicare- or Medicaid-certified? - Does the nursing home have the level of care needed (such as skilled or custodial care) and is a bed available? - Does the nursing home have special services if needed in a separate unit (such as a ventilator or rehabilitation) and is a bed available? - Are residents clean, well groomed, and appropriately dressed for the season or time of day? - Is the nursing home free from strong, unpleasant odors? - Does the nursing home appear to be clean and well kept? - Does the nursing home conduct staff background checks? - Does the nursing home staff interact warmly and respectfully with home residents? - Does the nursing home meet cultural, religious, and language needs? - Are the nursing home and the current administrator licensed? Is the nursing home Medicare- or Medicaid-certified? Does the nursing home have the level of care needed (such as skilled or custodial care) and is a bed available? Does the nursing home have special services if needed in a separate unit (such as a ventilator or rehabilitation) and is a bed available? Are residents clean, well groomed, and appropriately dressed for the season or time of day? Is the nursing home free from strong, unpleasant odors? Does the nursing home appear to be clean and well kept? Does the nursing home conduct staff background checks? Does the nursing home staff interact warmly and respectfully with home residents? Does the nursing home meet cultural, religious, and language needs? Are the nursing home and the current administrator licensed? </s>

<s>[INST] Human: What is (are) Facial Injuries and Disorders ? [/INST] Assistant: Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, speech, breathing and your ability to swallow. Broken bones, especially the bones of your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. For example, nerve diseases like trigeminal neuralgia or Bell's palsy sometimes cause facial pain, spasms and trouble with eye or facial movement. Birth defects can also affect the face. They can cause underdeveloped or unusually prominent facial features or a lack of facial expression. Cleft lip and palate are a common facial birth defect. </s>

<s>[INST] Human: How to prevent Kidney Stones in Adults ? [/INST] Assistant: The first step in preventing kidney stones is to understand what is causing the stones to form. The health care provider may ask the person to try to catch the kidney stone as it passes, so it can be sent to a lab for analysis. Stones that are retrieved surgically can also be sent to a lab for analysis. The health care provider may ask the person to collect urine for 24 hours after a stone has passed or been removed to measure daily urine volume and mineral levels. Producing too little urine or having a mineral abnormality can make a person more likely to form stones. Kidney stones may be prevented through changes in eating, diet, and nutrition and medications. Eating, Diet, and Nutrition People can help prevent kidney stones by making changes in their fluid intake. Depending on the type of kidney stone a person has, changes in the amounts of sodium, animal protein, calcium, and oxalate consumed can also help. Drinking enough fluids each day is the best way to help prevent most types of kidney stones. Health care providers recommend that a person drink 2 to 3 liters of fluid a day. People with cystine stones may need to drink even more. Though water is best, other fluids may also help prevent kidney stones, such as orange juice or lemonade. Talk with your health care provider if you cant drink the recommended amount due to other health problems, such as urinary incontinence, urinary frequency, or kidney failure. Recommendations based on the specific type of kidney stone include the following: Calcium Oxalate Stones - reducing sodium - reducing animal protein, such as meat, eggs, and fish - getting enough calcium from food or taking calcium supplements with food - avoiding foods high in oxalate, such as spinach, rhubarb, nuts, and wheat bran Calcium Phosphate Stones - reducing sodium - reducing animal protein - getting enough calcium from food or taking calcium supplements with food Uric Acid Stones - limiting animal protein More information about how changes in diet affect kidney stone formation is provided in the NIDDK health topic, Diet for Kidney Stone Prevention. Medications The health care provider may prescribe certain medications to help prevent kidney stones based on the type of stone formed or conditions that make a person more prone to form stones: - hyperuricosuriaallopurinol (Zyloprim), which decreases uric acid in the blood and urine - hypercalciuriadiuretics, such as hydrochlorothiazide - hyperoxaluriapotassium citrate to raise the citrate and pH of urine - uric acid stonesallopurinol and potassium citrate - cystine stonesmercaptopropionyl glycine, which decreases cystine in the urine, and potassium citrate - struvite stonesantibiotics, which are bacteria-fighting medications, when needed to treat infections, or acetohydroxamic acid with long-term antibiotic medications to prevent infection People with hyperparathyroidism sometimes develop calcium stones. Treatment in these cases is usually surgery to remove the parathyroid glands. In most cases, only one of the glands is enlarged. Removing the glands cures hyperparathyroidism and prevents kidney stones. </s>

<s>[INST] Human: What are the treatments for FG syndrome ? [/INST] Assistant: How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education services should be initiated as soon as possible so that each child can reach his fullest potential. GeneReviews provides a detailed list of management strategies. </s>

<s>[INST] Human: What is (are) Schinzel-Giedion syndrome ? [/INST] Assistant: Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood. Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, ear malformations, an inability to secrete tears (alacrima), and excessive hairiness (hypertrichosis). Hypertrichosis often disappears in infancy. Children with Schinzel-Giedion syndrome have severe developmental delay. Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the heart valves, which control blood flow in the heart; the chambers of the heart that pump blood to the body (ventricles); or the dividing wall between the sides of the heart (the septum). Most children with Schinzel-Giedion syndrome have accumulation of urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. Affected individuals can have genital abnormalities such as underdevelopment (hypoplasia) of the genitals. Affected boys may have the opening of the urethra on the underside of the penis (hypospadias). Bone abnormalities are common in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally hard or thick (sclerotic), or the joint between the bones at the base of the skull (occipital synchondrosis) can be abnormally wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), or shortened bones at the ends of the fingers (hypoplastic distal phalanges). Children with this condition who survive past infancy have a higher than normal risk of developing certain types of tumors called neuroepithelial tumors. </s>

<s>[INST] Human: What is (are) Mitral Valve Prolapse ? [/INST] Assistant: Mitral valve prolapse (MVP) occurs when one of your heart's valves doesn't work properly. The flaps of the valve are "floppy" and don't close tightly. Most people who have the condition are born with it. It also tends to run in families. Most of the time, MVP doesn't cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can cause - Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast) - Shortness of breath - Cough - Fatigue, dizziness, or anxiety - Migraine headaches - Chest discomfort Most people who have mitral valve prolapse (MVP) don't need treatment because they don't have symptoms and complications. If you need treatment for MVP, medicines can help relieve symptoms or prevent complications. Very few people will need surgery to repair or replace the mitral valve. MVP puts you at risk for infective endocarditis, a kind of heart infection. To prevent it, doctors used to prescribe antibiotics before dental work or certain surgeries. Now, only people at high risk of endocarditis need the antibiotics. NIH: National Heart, Lung, and Blood Institute </s>

<s>[INST] Human: What are the symptoms of Uropathy distal obstructive polydactyly ? [/INST] Assistant: What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive 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) Abnormality of the cardiac septa - Abnormality of the larynx - Abnormality of the ureter - Abnormality of the uterus - Accessory spleen - Adrenal hypoplasia - Agenesis of corpus callosum - Ambiguous genitalia, female - Ambiguous genitalia, male - Anal atresia - Anencephaly - Arnold-Chiari malformation - Asplenia - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Breech presentation - Cerebellar hypoplasia - Cerebral hypoplasia - Cleft palate - Cleft upper lip - Clinodactyly - Coarctation of aorta - Cryptorchidism - Dandy-Walker malformation - Elevated amniotic fluid alpha-fetoprotein - External genital hypoplasia - Foot polydactyly - Hydrocephalus - Hypertelorism - Hypoplasia of the bladder - Hypotelorism - Intestinal malrotation - Intrauterine growth retardation - Iris coloboma - Large placenta - Lobulated tongue - Low-set ears - Microcephaly - Microphthalmia - Natal tooth - Occipital encephalocele - Olfactory lobe agenesis - Oligohydramnios - Omphalocele - Patent ductus arteriosus - Polycystic kidney dysplasia - Postaxial hand polydactyly - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Short neck - Single umbilical artery - Sloping forehead - Splenomegaly - Syndactyly - Talipes - Webbed neck - Wide mouth - 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 Brachyolmia ? [/INST] Assistant: What are the signs and symptoms of Brachyolmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia. 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) Platyspondyly 90% Short stature 90% Short thorax 90% 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) Rheumatoid Arthritis ? [/INST] Assistant: An Inflammatory, Autoimmune Disease Rheumatoid arthritis is an inflammatory disease that causes pain, swelling, stiffness, and loss of function in the joints. It can cause mild to severe symptoms. Rheumatoid arthritis not only affects the joints, but may also attack tissue in the skin, lungs, eyes, and blood vessels. People with rheumatoid arthritis may feel sick, tired, and sometimes feverish. Rheumatoid arthritis is classified as an autoimmune disease. An autoimmune disease occurs when the immune system turns against parts of the body it is designed to protect. Rheumatoid arthritis generally occurs in a symmetrical pattern. This means that if one knee or hand is involved, the other one is, too. It can occur at any age, but usually begins during a person's most productive years. Affects More Women Than Men Rheumatoid arthritis occurs much more frequently in women than in men. About two to three times as many women as men have the disease. Learn more about how rheumatoid arthritis occurs. Effects Vary Rheumatoid arthritis affects people differently. Some people have mild or moderate forms of the disease, with periods of worsening symptoms, called flares, and periods in which they feel better, called remissions. Others have a severe form of the disease that is active most of the time, lasts for many years or a lifetime, and leads to serious joint damage and disability. Although rheumatoid arthritis is primarily a disease of the joints, its effects are not just physical. Many people with rheumatoid arthritis also experience issues related to - depression, anxiety - feelings of helplessness - low self-esteem. depression, anxiety feelings of helplessness low self-esteem. Rheumatoid arthritis can affect virtually every area of a persons life from work life to family life. It can also interfere with the joys and responsibilities of family life and may affect the decision to have children. Treatment Can Help Fortunately, current treatment strategies allow most people with the disease to lead active and productive lives. These strategies include pain-relieving drugs and medications that slow joint damage, a balance between rest and exercise, and patient education and support programs. In recent years, research has led to a new understanding of rheumatoid arthritis and has increased the likelihood that, in time, researchers will find even better ways to treat the disease. </s>

<s>[INST] Human: What is (are) Mucolipidosis type 4 ? [/INST] Assistant: Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. </s>

<s>[INST] Human: Do you have information about College Health [/INST] Assistant: Summary : College life involves excitement, along with new challenges, risks, and responsibilities. You are meeting new people, learning new things, and making your own decisions. It can sometimes be stressful. You have to deal with pressures related to food, drink, appearance, drugs, and sexual activity. There are steps you can take to stay healthy and safe while you're in college: - Eat a balanced diet - Get enough sleep - Get regular physical activity - Maintain your health with checkups and vaccinations - If you decide to have sex, practice safe sex - Make smart choices about alcohol and drugs - Get help if you are stressed or depressed Centers for Disease Control and Prevention </s>

<s>[INST] Human: What are the treatments for congenital diaphragmatic hernia ? [/INST] Assistant: These resources address the diagnosis or management of congenital diaphragmatic hernia: - Boston Children's Hospital - Children's Hospital of Philadelphia - Columbia University Medical Center: DHREAMS - Columbia University Medical Center: Hernia Repair - Gene Review: Gene Review: Congenital Diaphragmatic Hernia Overview - Genetic Testing Registry: Congenital diaphragmatic hernia - Genetic Testing Registry: Diaphragmatic hernia 2 - Genetic Testing Registry: Diaphragmatic hernia 3 - MedlinePlus Encyclopedia: Diaphragmatic Hernia Repair - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia - University of California, San Francisco Fetal Treatment Center: Congenital Diaphragmatic Hernia - University of Michigan Health System 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>