sarnsrun/medquad huggingface dataset:
Topic: Neurofibromatosis
Question: What is (are) Neurofibromatosis ?
Answer: The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF):
                
- NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia.   - NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing.  - The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.
Source: NINDS
Topic: Neurofibromatosis
Question: What are the treatments for Neurofibromatosis ?
Answer: Treatment may include surgery, focused radiation, or chemotherapy. Surgery to remove NF2 tumors completely is one option. Surgery for vestibular schwannomas does not restore hearing and usually reduces hearing. Sometimes surgery is not performed until functional hearing is lost completely. Surgery may result in damage to the facial nerve and some degree of facial paralysis. Focused radiation of vestibular schwannoma carries of a lower risk of facial paralysis than open surgery, but is more effective o shrinking small to moderate tumors than larger tumors. Chemotherapy with a drug that targets the blood vessels of vestibular schwannoma can reduce the size of the tumor and improves hearing, but some tumors do not respond at all and sometimes respond only temporarily. Bone malformations can often be corrected surgically, and surgery can also correct cataracts and retinal abnormalities. Pain usually subsides when tumors are removed completely.
Source: NINDS
Topic: Neurofibromatosis
Question: What is the outlook for Neurofibromatosis ?
Answer: In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. Loss of hearing in both ears develops in most individuals with NF2. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.
Source: NINDS
Topic: Neurofibromatosis
Question: what research (or clinical trials) is being done for Neurofibromatosis ?
Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS researchers are working to identify signaling pathways in the nervous system, with the hope of eventually developing drugs and techniques to help diagnose and treat NF. Understanding the natural history of tumors in NF and determining possible factors that may regulate their growth patterns is another aim of NIH researchers Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls how and where tumors form and grow Researchers also hope to develop new and more effective treatments for neurofibromatosis. Several agents have been tested or are under investigation for NF2, including the monoclonal antibody, bevacizumab, which improves hearing in some individuals with NF2.Because schwannomas are particularly hard to treat tumors, NINDS researchers are developing a new treatment option, which uses a virus to kill tumor cells. Additional NINDS-funded researchers are testing novel radiation and chemotherapy regimens for NF1-related malignant tumors of the peripheral nerves.
Source: NINDS
Topic: Febrile Seizures
Question: What is (are) Febrile Seizures ?
Answer: Febrile seizures are convulsions or seizures in infants or small children that are brought on by a fever. Most often during a febrile seizure, a child loses consciousness and shakes uncontrollably. Less commonly, a child becomes rigid or has twitches in only a portion of the body. Most febrile seizures last a minute or two; some can be as brief as a few seconds, while others may last for more than 15 minutes. Approximately one in every 25 children will have at least one febrile seizure. Febrile seizures usually occur in children between the ages of 6 months and 5 years, with the risk peaking in the second year of life. The older a child is when the first febrile seizure occurs, the less likely that child is to have more. A few factors appear to boost a child's risk of having recurrent febrile seizures, including young age (less than 18 months) during the first seizures and having immediate family members with a history of febrile seizures.
Source: NINDS
Topic: Febrile Seizures
Question: What are the treatments for Febrile Seizures ?
Answer: A child who has a febrile seizure usually doesn't need to be hospitalized. If the seizure is prolonged or is accompanied by a serious infection, or if the source of the infection cannot be determined, a doctor may recommend that the child be hospitalized for observation. Prolonged daily use of anti-seizure medicines is usually not recommended because of their potential for harmful side effects. Children especially prone to febrile seizures may be treated with medication when they have a fever to lower the risk of having another febrile seizure.
Source: NINDS
Topic: Febrile Seizures
Question: What is the outlook for Febrile Seizures ?
Answer: The vast majority of febrile seizures are short and harmless. There is no evidence that short febrile seizures cause brain damage. Multiple or prolonged seizures are a risk factor for epilepsy but most children who experience febrile seizures do not go on to develop the reoccurring seizures that re characteristic of epilepsy. Certain children who have febrile seizures face an increased risk of developing epilepsy. These children include those who have a febrile seizure that lasts longer than 10 minutes, who have febrile seizures that are lengthy or affect only one part of the body, or experience seizures that reoccur within 24 hours..
Source: NINDS
Topic: Febrile Seizures
Question: what research (or clinical trials) is being done for Febrile Seizures ?
Answer: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on seizures at its research center in Bethesda, Maryland, and through grants to major medical institutions across the country. NINDS-supported scientists are exploring environmental, biological, and genetic risk factors that might make children susceptible to febrile seizures. Investigators continue to monitor the long-term impact that febrile seizures might have on intelligence, behavior, school achievement, and the development of epilepsy. Investigators also continue to explore which drugs can effectively treat or prevent febrile seizures, and to identify factors that may cause a child who has prolonged febrile seizures to develop temporal lobe epilepsy.
Source: NINDS
Topic: Chorea
Question: What is (are) Chorea ?
Answer: Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Syndenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.
Source: NINDS
Topic: Chorea
Question: What are the treatments for Chorea ?
Answer: There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. Adjusting medication dosages can treat drug-induced chorea. Metabolic and endocrine-related choreas are treated according to the cause(s) of symptoms.
Source: NINDS
Topic: Chorea
Question: What is the outlook for Chorea ?
Answer: The prognosis for individuals with chorea varies depending on the type of chorea and the associated disease. Huntington's disease is a progressive, and ultimately, fatal disease. Syndenham's chorea is treatable and curable.
Source: NINDS
Topic: Chorea
Question: what research (or clinical trials) is being done for Chorea ?
Answer: The NINDS supports research on movement disorders such as chorea. The goals of this research are to increase understanding of these disorders and to find ways to prevent and treat them.
Source: NINDS
Topic: Menkes Disease
Question: What is (are) Menkes Disease ?
Answer: Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.
Source: NINDS
Topic: Menkes Disease
Question: What are the treatments for Menkes Disease ?
Answer: Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive.
Source: NINDS
Topic: Menkes Disease
Question: What is the outlook for Menkes Disease ?
Answer: Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.
Source: NINDS
Topic: Menkes Disease
Question: what research (or clinical trials) is being done for Menkes Disease ?
Answer: Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2. Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3
                

                
1. Kaler, SG. The neurology of STPAT copper transporter disease: emerging concepts and future trends. Nature Reviews Neurology, 2001:7:15-19..
                
2. Kaler SG, et al.Neonatal Diagnosis and Treatment of Menkes Disease. N Engl J Med 2008;358:605-14.
                
3. Donsante, A. et. al. ATPTA gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy (in press as of August 2011).
Source: NINDS
Topic: Williams Syndrome
Question: What is (are) Williams Syndrome ?
Answer: Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
Source: NINDS
Topic: Williams Syndrome
Question: What are the treatments for Williams Syndrome ?
Answer: There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the       United States   . Treatments are based on an individuals particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure
Source: NINDS
Topic: Williams Syndrome
Question: What is the outlook for Williams Syndrome ?
Answer: The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS.
Source: NINDS
Topic: Williams Syndrome
Question: what research (or clinical trials) is being done for Williams Syndrome ?
Answer: The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.
Source: NINDS
Topic: Batten Disease
Question: What is (are) Batten Disease ?
Answer: Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.
Source: NINDS
Topic: Batten Disease
Question: What are the treatments for Batten Disease ?
Answer: As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.
Source: NINDS
Topic: Batten Disease
Question: What is the outlook for Batten Disease ?
Answer: Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.
Source: NINDS
Topic: Batten Disease
Question: what research (or clinical trials) is being done for Batten Disease ?
Answer: The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is testing the usefulness of bone marrow transplantation in a sheep model, while other investigators are working to develop mouse models. Mouse models will make it easier for scientists to study the genetics of these diseases.
Source: NINDS
Topic: Attention Deficit-Hyperactivity Disorder
Question: What is (are) Attention Deficit-Hyperactivity Disorder ?
Answer: Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.
Source: NINDS
Topic: Attention Deficit-Hyperactivity Disorder
Question: What are the treatments for Attention Deficit-Hyperactivity Disorder ?
Answer: The usual course of treatment may include medications such as methylphenidate (Ritalin) or dextroamphetamine (Dexedrine), which are stimulants that decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning and should not be limited to the use of medications alone. Treatment should include structured classroom management, parent education (to address discipline and limit-setting), and tutoring and/or behavioral therapy for the child.
Source: NINDS
Topic: Attention Deficit-Hyperactivity Disorder
Question: What is the outlook for Attention Deficit-Hyperactivity Disorder ?
Answer: There is no "cure" for ADHD. Children with the disorder seldom outgrow it; however, some may find adaptive ways to accommodate the ADHD as they mature.
Source: NINDS
Topic: Attention Deficit-Hyperactivity Disorder
Question: what research (or clinical trials) is being done for Attention Deficit-Hyperactivity Disorder ?
Answer: Several components of the NIH support research on developmental disorders such as ADHD. Research programs of the NINDS, the National Institute of Mental Health (NIMH), and the National Institute of Child Health and Human Development (NICHD) seek to address unanswered questions about the causes of ADHD, as well as to improve diagnosis and treatment.
Source: NINDS