umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Pseudopelade of Brocq ?

Answer: Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). There exists some controversy as to whether PBB is a distinct condition or the common final stage or variant of several different forms of scarring alopecias such as discoid lupus erythematosus (DLE) or lichen planopilaris (LPP). Some have suggested abandoning the use of the term pseudopelade of Brocq while others think that the term should be strictly used to describe patients that follow the pattern of hair loss described by Brocq et al.(i.e., multiple, small, discrete, asymmetrical, smooth, soft, flesh-colored or white patches of hair loss with little, if any, inflammation). Although the exact cause of PBB has not been identified, it is believed to be an autoimmune disease. Some individuals with PBB have been found to have Borrelia burgdorferi, the bacterium that causes Lyme disease.  Neither an effective treatment nor cure is currently available.
Question: Is Hirschsprung's disease inherited ?

Answer: Is Hirschsprung's disease inherited? Hirschsprung's disease (HSCR) usually occurs occurs by itself without other symptoms and is called isolated HSCR. Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. When someone has a child with isolated HSCR, the overall risk to have another child with the condition is 4%. There are some factors that can change the risk. For example, the risk is higher if the sibling has long-segment disease rather than short-segment disease. Also males are more likely than females to develop HSCR. Another factor is if the siblings have the same or different parents.  If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern. For example, the inheritance may be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the exact cause of the syndrome.  Individuals who are interested in learning about their personal risks or risks to family members should speak with their health care provider or a genetics professional.
Question: What is (are) Glioma ?

Answer: Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called astrocytes Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord Oligodendrogliomas - tumors that affect the oligodendrocytes The symptoms of glioma vary by type but may include headaches; nausea and vomiting; confusion; personality changes; trouble with balance; vision problems; speech difficulties; and/or seizures. The exact underlying cause is unknown. In most cases, the tumor occurs sporadically in people with no family history of the condition. Treatment depends on many factors, including the type, size, stage and location of the tumor, but may include surgery, radiation therapy, chemotherapy and/or targeted therapy.
Question: What are the treatments for Jones syndrome ?

Answer: How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.
Question: What is (are) Adult-onset vitelliform macular dystrophy ?

Answer: Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, which can progress to central vision loss over time.Historically, AVMD has been characterized as a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that there may be other unidentified genes and/or environmental causes.The majority of cases due to a mutation in the identified genes are inherited in an autosomal dominant manner; however not all individuals have AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.
Question: What causes WaterhouseFriderichsen syndrome ?

Answer: What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides. It may also be associated with a history of splenectomy. In rare cases, it may be caused by the use of medications that promote blood clotting, low platelet counts, primary antiphospholipid syndrome, renal vein thrombosis or steroid use. While the exact mechanism of disease is not clear, activation of several cytokine mediators appears to lead to sepsis and shock.
Question: What is (are) EEC syndrome ?

Answer: EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.
Question: What is (are) Intracranial arteriovenous malformation ?

Answer: Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain.  Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery.
Question: What is (are) Alzheimer disease ?

Answer: Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. Although the cause of these cases is unknown, genetic changes are likely to play a role. Virtually all sporadic cases of Alzheimer disease begin after age 65, and the risk of developing this condition increases as a person gets older. AD can be subdivided into two groups based on the age of onset: (1) Early-onset (1%-6% of the cases) which start in people younger than 60- 65 years of age (2) Late-onset, which starts in people older than 65 years old. In about 25% of cases, AD is familial (2 or more people in a family have AD). For more information, please visit GARD's familial Alzheimer disease Web page.
Question: What causes Oculopharyngeal muscular dystrophy ?

Answer: What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein acts to protect the mRNA from being broken down and allows it to move within the cell. Mutations in the PABPN1 gene that cause OPMD result in a PABPN1 protein that forms clumps within muscle cells, and hence they cannot be broken down. These clumps are thought to impair the normal function of muscle cells and eventually cause cells to die. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with OPMD. It is not known why abnormal PABPN1 proteins seem to affect muscle cells in only certain parts of the body.
Question: What are the symptoms of Chapare Hemorrhagic Fever (CHHF) ?

Answer: The symptoms of CHHF, as reported in the only described patient, resemble those of other South American hemorrhagic fevers, such as Argentine HF or Bolivian HF. The incubation period is unknown, but for Argentine hemorrhagic fever (AHF) is 6 to 16 days. 
   
The CHHF clinical course included: 
    
    - fever 
    - headache 
    - articulation and muscle pain 
    - vomiting 
    
   
These symptoms were followed by deterioration with multiple hemorrhagic signs. The only described CHHF patient died 14 days after onset of symptoms. 
   
Since Arenaviruses may enter the fetus through infection of the mother, and anecdotal evidence suggests that infected pregnant women may suffer miscarriages, it is reasonable to assume that both infection of the fetus and miscarriage may be associated with CHHF infection in the mother.
Question: Who is at risk for Pulmonary Hypertension? ?

Answer: The exact number of people who have pulmonary hypertension (PH) isn't known.
                
Group 1 pulmonary arterial hypertension (PAH) without a known cause is rare. It affects women more often than men. People who have group 1 PAH tend to be overweight.
                
PH that occurs with another disease or condition is more common.
                
PH usually develops between the ages of 20 and 60, but it can occur at any age. People who are at increased risk for PH include:
                
Those who have a family history of the condition.
                
Those who have certain diseases or conditions, such as heart and lung diseases, liver disease, HIV infection, or blood clots in the pulmonary arteries. (For more information about the diseases, conditions, and factors that cause PH, go to "Types of Pulmonary Hypertension.")
                
Those who use street drugs (such as cocaine) or certain diet medicines.
                
Those who live at high altitudes.
Question: Who is at risk for Restless Legs Syndrome? ?

Answer: Restless legs syndrome (RLS) affects about 515 percent of Americans. Many people who have RLS have family members with the disorder.
                
RLS can affect people of any racial or ethnic group, but the disorder is more common in people of Northern European descent. RLS affects both genders, but women are more likely to have it than men.
                
The number of cases of RLS rises with age. Many people who have RLS are diagnosed in middle age. People who develop RLS early in life tend to have a family history of the disorder.
                
People who have certain diseases or conditions or who take certain medicines are more likely to develop RLS. (For more information, go to "What Causes Restless Legs Syndrome?")
                
For example, pregnancy is a risk factor for RLS. It usually occurs during the last 3 months of pregnancy. The disorder usually improves or goes away after giving birth. Some women may continue to have symptoms after giving birth. Other women may develop RLS again later in life.
Question: What is (are) Lennox-Gastaut Syndrome ?

Answer: Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.
Question: What are the genetic changes related to Marinesco-Sjgren syndrome ?

Answer: Mutations in the SIL1 gene cause Marinesco-Sjgren syndrome. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape. The SIL1 protein plays a role in the process of protein folding.  SIL1 gene mutations result in the production of a protein that has little or no activity. A lack of SIL1 protein is thought to impair protein folding, which could disrupt protein transport and cause proteins to accumulate in the endoplasmic reticulum. This accumulation likely damages and destroys cells in many different tissues, leading to ataxia, myopathy, and the other features of Marinesco-Sjgren syndrome.  Approximately one-third of people with Marinesco-Sjgren syndrome do not have identified mutations in the SIL1 gene. In these cases, the cause of the condition is unknown.
Question: What are the genetic changes related to Refsum disease ?

Answer: More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7.  The signs and symptoms of Refsum disease result from the abnormal buildup of a type of fatty acid called phytanic acid. This substance is obtained from the diet, particularly from beef and dairy products. It is normally broken down through a process called alpha-oxidation, which occurs in cell structures called peroxisomes. These sac-like compartments contain enzymes that process many different substances, such as fatty acids and certain toxic compounds.  Mutations in either the PHYH or PEX7 gene disrupt the usual functions of peroxisomes, including the breakdown of phytanic acid. As a result, this substance builds up in the body's tissues. The accumulation of phytanic acid is toxic to cells, although it is unclear how an excess of this substance affects vision and smell and causes the other specific features of Refsum disease.
Question: What are the genetic changes related to alpha-mannosidosis ?

Answer: Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose.  Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause cells to malfunction and eventually die. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis.
Question: Is Adams-Oliver syndrome inherited ?

Answer: Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The altered gene is typically inherited from an affected parent. Some cases associated with NOTCH1 gene mutations 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.  When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive pattern. In conditions with this pattern of inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question: What is (are) familial encephalopathy with neuroserpin inclusion bodies ?

Answer: Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. They may experience repetitive thoughts, speech, or movements. As the condition progresses, their personality changes and judgment, insight, and memory become impaired. Affected people lose the ability to perform the activities of daily living, and most eventually require comprehensive care.  The signs and symptoms of FENIB vary in their severity and age of onset. In severe cases, the condition causes seizures and episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear as early as a person's teens. Less severe cases are characterized by a progressive decline in intellectual functioning beginning in a person's forties or fifties.
Question: What are the genetic changes related to thiamine-responsive megaloblastic anemia syndrome ?

Answer: Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia syndrome. This gene provides instructions for making a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found in many different foods and is important for numerous body functions.  Most mutations in the SLC19A2 gene lead to the production of an abnormally short, nonfunctional thiamine transporter 1. Other mutations change single protein building blocks (amino acids) in this protein. All of these mutations prevent thiamine transporter 1 from bringing thiamine into the cell. It remains unclear how the absence of this protein leads to the seemingly unrelated symptoms of megaloblastic anemia, diabetes, and hearing loss. Research suggests that an alternative method for transporting thiamine is present in all the cells of the body, except where blood cells and insulin are formed (in the bone marrow and pancreas, respectively) and cells in the inner ear.
Question: Is Fanconi anemia inherited ?

Answer: Fanconi anemia is most often inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Very rarely, this condition is inherited in an X-linked recessive pattern. The gene associated with X-linked recessive Fanconi anemia is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What is (are) distal hereditary motor neuropathy, type II ?

Answer: Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.  Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe.  Some individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.
Question: Do you have information about Flu Shot

Answer: Summary : Flu is a respiratory infection caused by a number of viruses. Most people with the flu get better on their own. But it can be serious. It can cause complications and sometimes even death. Getting the flu vaccine every year is the best way to lower your chance of getting the flu and spreading it to others.    The flu vaccine causes antibodies to develop in your body about two weeks after you get it. These antibodies provide protection against infection with the viruses that are in the vaccine.    Flu vaccines can either be shots or nasal sprays. There is also a high-dose version for people 65 and older. Ask your health care provider which one is right for you.    Everyone 6 months of age and older should get a flu vaccine every season. People with egg allergies should check with their doctors before getting a vaccine. Other exceptions are people who have       - Had reactions to flu shots before    - Guillain-Barre Syndrome    - A fever       Centers for Disease Control and Prevention