umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for microphthalmia ?

Answer: These resources address the diagnosis or management of microphthalmia:  - Gene Review: Gene Review: Microphthalmia/Anophthalmia/Coloboma Spectrum  - Genetic Testing Registry: Cataract, congenital, with microphthalmia  - Genetic Testing Registry: Cataract, microphthalmia and nystagmus  - Genetic Testing Registry: Microphthalmia, isolated 1  - Genetic Testing Registry: Microphthalmia, isolated 2  - Genetic Testing Registry: Microphthalmia, isolated 3  - Genetic Testing Registry: Microphthalmia, isolated 4  - Genetic Testing Registry: Microphthalmia, isolated 5  - Genetic Testing Registry: Microphthalmia, isolated 6  - Genetic Testing Registry: Microphthalmia, isolated 7  - Genetic Testing Registry: Microphthalmia, isolated 8  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 3  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 4  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 5  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 6  - Genetic Testing Registry: Microphthalmia, isolated, with corectopia  - Genetic Testing Registry: Microphthalmos   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
Question: What are the genetic changes related to Griscelli syndrome ?

Answer: 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.
Question: What are the genetic changes related to spinocerebellar ataxia type 1 ?

Answer: Mutations in the ATXN1 gene cause SCA1. The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in regulating various aspects of producing proteins, including the first stage of protein production (transcription) and processing RNA, a chemical cousin of DNA.  The ATXN1 gene mutations that cause SCA1 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 4 to 39 times within the gene. In people with SCA1, the CAG segment is repeated 40 to more than 80 times. People with 40 to 50 repeats tend to first experience signs and symptoms of SCA1 in mid-adulthood, while people with more than 70 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-1 protein that folds into the wrong 3-dimensional shape. This abnormal protein clusters with other proteins to form clumps (aggregates) within the nucleus of the cells. These aggregates prevent the ataxin-1 protein from functioning normally, which damages cells and leads to cell death. For reasons that are unclear, aggregates of ataxin-1 are found only in the brain and spinal cord (central nervous system). Cells within the cerebellum, which is the part of the brain that coordinates movement, are particularly sensitive to changes in ataxin-1 shape and function. Over time, the loss of the cells of the cerebellum causes the movement problems characteristic of SCA1.
Question: What are the genetic changes related to fragile X-associated primary ovarian insufficiency ?

Answer: Mutations in the FMR1 gene increase a woman's risk of developing FXPOI. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. This protein plays a role in the functioning of nerve cells. It is also important for normal ovarian function, although the role is not fully understood.  Women with FXPOI have a mutation in which a DNA segment, known as a CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In women with FXPOI, however, the CGG segment is repeated 55 to 200 times. This mutation is known as an FMR1 gene premutation. Some studies show that women with about 44 to 54 CGG repeats, known as an intermediate (or gray zone) mutation, can also have features of FXPOI. An expansion of more than 200 repeats, a full mutation, causes a more serious disorder called fragile X syndrome, which is characterized by intellectual disability, learning problems, and certain physical features.  For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. The FMR1 mRNA is the genetic blueprint for FMRP. Researchers believe that the high levels of mRNA cause the signs and symptoms of FXPOI. It is thought that the mRNA attaches to other proteins and keeps them from performing their functions. In addition, the repeats make producing FMRP from the blueprint more difficult, and as a result, people with the FMR1 gene premutation can have less FMRP than normal. A reduction of this protein is not thought to be involved in FXPOI. However, it may cause mild versions of the features seen in fragile X syndrome, such as prominent ears, anxiety, and mood swings.
Question: What to do for Wilson Disease ?

Answer: People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as
                
- shellfish  - liver  - mushrooms  - nuts  - chocolate
                
People should not eat these foods during the initial treatment and talk with the health care provider to discuss if they are safe to eat in moderation during maintenance treatment.
                
People with Wilson disease whose tap water runs through copper pipes or comes from a well should check the copper levels in the tap water. Water that sits in copper pipes may pick up copper residue, but running water lowers the level to within acceptable limits. People with Wilson disease should not use copper containers or cookware to store or prepare food or drinks.
                
To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of vitamins and dietary supplements, with their health care provider. Read more at www.nccam. nih.gov/health. If the health care provider recommends taking any type of supplement or vitamin, a pharmacist can recommend types that do not contain copper.
                
People should talk with a health care provider about diet changes to reduce copper intake.
                
Liver Transplant
                
A liver transplant may be necessary in people when
                
- cirrhosis leads to liver failure  - acute liver failure happens suddenly  - treatment is not effective
                
A liver transplant is an operation to remove a diseased or an injured liver and replace it with a healthy one from another person, called a donor. A successful transplant is a life-saving treatment for people with liver failure.
                
Most liver transplants are successful. About 85 percent of transplanted livers are functioning after 1 year.2 Liver transplant surgery provides a cure for Wilson disease in most cases. More information is provided in the NIDDK health topic, Liver Transplantation.
Question: What are the symptoms of Mitochondrial trifunctional protein deficiency ?

Answer: What are the signs and symptoms of Mitochondrial trifunctional protein deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial trifunctional protein 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) Pigmentary retinopathy 2/16 Abnormality of the amniotic fluid - Autosomal recessive inheritance - Congestive heart failure - Dilated cardiomyopathy - Elevated hepatic transaminases - Failure to thrive - Generalized muscle weakness - Hydrops fetalis - Hyperammonemia - Hypoketotic hypoglycemia - Lactic acidosis - Muscular hypotonia - Myoglobinuria - Peripheral neuropathy - Prenatal maternal abnormality - Respiratory failure - Rhabdomyolysis - Small for gestational age - 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.
Question: What are the symptoms of Olivopontocerebellar atrophy deafness ?

Answer: What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. 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) Cerebral cortical atrophy 90% Hearing impairment 90% Hyperreflexia 90% Incoordination 90% Ventriculomegaly 90% Aplasia/Hypoplasia of the cerebellum 50% Nystagmus 50% Chorioretinal coloboma 7.5% EEG abnormality 7.5% Hypertonia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Seizures 7.5% Strabismus 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.
Question: What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ?

Answer: What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia 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) Abnormality of the basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - Seizures - 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.
Question: What are the symptoms of Langer mesomelic dysplasia ?

Answer: What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic dysplasia. 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 epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the fibula 90% Abnormality of the palate 90% Madelung deformity 90% Micromelia 90% Short stature 90% Ulnar deviation of finger 90% Autosomal recessive inheritance - Broad ulna - Hypoplasia of the radius - Hypoplasia of the ulna - Lumbar hyperlordosis - Mesomelia - Mesomelic short stature - Radial bowing - Rudimentary fibula - Short femoral neck - Shortening of the tibia - 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.
Question: What are the symptoms of Perry syndrome ?

Answer: What are the signs and symptoms of Perry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Perry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of extrapyramidal motor function 90% Respiratory insufficiency 90% Sleep disturbance 90% Tremor 90% Weight loss 90% Developmental regression 7.5% Hallucinations 7.5% Hypotension 7.5% Abnormality of metabolism/homeostasis - Apathy - Autosomal dominant inheritance - Bradykinesia - Central hypoventilation - Dysarthria - Hypoventilation - Inappropriate behavior - Insomnia - Mask-like facies - Parkinsonism - Rapidly progressive - Rigidity - Short stepped shuffling gait - Vertical supranuclear gaze palsy - Weak voice - 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.
Question: Who is at risk for Parasites - Lice - Head Lice? ?

Answer: In the United States, infestation with head lice (Pediculus humanus capitis) is most common among preschool- and elementary school-age children and their household members and caretakers. Head lice are not known to transmit disease; however, secondary bacterial infection of the skin resulting from scratching can occur with any lice infestation.
    
Getting head lice is not related to cleanliness of the person or his or her environment.
    
Head lice are mainly spread by direct contact with the hair of an infested person. The most common way to get head lice is by head-to-head contact with a person who already has head lice. Such contact can be common among children during play at:
    
     - school,
     - home, and
     - elsewhere (e.g., sports activities, playgrounds, camp, and slumber parties).
    
    
Uncommonly, transmission may occur by:
    
     - wearing clothing, such as hats, scarves, coats, sports uniforms, or hair ribbons worn by an infested person;
     - using infested combs, brushes or towels; or
     - lying on a bed, couch, pillow, carpet, or stuffed animal that has recently been in contact with an infested person.
    
    
Reliable data on how many people get head lice each year in the United States are not available; however, an estimated 6 million to 12 million infestations occur each year in the United States among children 3 to 11 years of age. Some studies suggest that girls get head lice more often than boys, probably due to more frequent head-to-head contact.
    
In the United States, infestation with head lice is much less common among African-Americans than among persons of other races. The head louse found most frequently in the United States may have claws that are better adapted for grasping the shape and width of some types of hair but not others.
Question: What is (are) X-linked hyper IgM syndrome ?

Answer: X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections.  Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. Common infections include pneumonia, sinus infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (central nervous system) infections, liver disease, and gastrointestinal tumors. They also have an increased risk of lymphoma, which is a cancer of immune system cells.  The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. Without treatment, this condition can result in death during childhood or adolescence.
Question: What is (are) Pancreatic Cancer ?

Answer: Key Points
                    - Pancreatic cancer is a disease in which malignant (cancer) cells form in the tissues of the pancreas.    - Smoking and health history can affect the risk of pancreatic cancer.    - Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss.    - Pancreatic cancer is difficult to detect (find) and diagnose early.    - Tests that examine the pancreas are used to detect (find), diagnose, and stage pancreatic cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Pancreatic cancer is a disease in which malignant (cancer) cells form in the tissues of the pancreas.
                    The pancreas is a gland about 6 inches long that is shaped like a thin pear lying on its side. The wider end of the pancreas is called the head, the middle section is called the body, and the narrow end is called the tail. The pancreas lies between the stomach and the spine.     The pancreas has two main jobs in the body:         - To make juices that help digest (break down) food.    - To make hormones, such as insulin and glucagon, that help control blood sugar levels. Both of these hormones help the body use and store the energy it gets from food.         The digestive juices are made by exocrine pancreas cells and the hormones are made by endocrine pancreas cells. About 95% of pancreatic cancers begin in exocrine cells.   This summary is about exocrine pancreatic cancer. For information on endocrine pancreatic cancer, see the PDQ summary on Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) Treatment.   For information on pancreatic cancer in children, see the PDQ summary on Unusual Cancers of Childhood Treatment.