randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : treatment 
 What are the treatments for carnitine palmitoyltransferase I deficiency ? 
 These resources address the diagnosis or management of CPT I deficiency:  - Baby's First Test  - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians  - Gene Review: Gene Review: Carnitine Palmitoyltransferase 1A Deficiency  - Genetic Testing Registry: Carnitine palmitoyltransferase I deficiency   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
This is a medical question of type : information 
 What is (are) protein C deficiency ? 
 Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.  Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting.  In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.
This is a medical question of type : frequency 
 How many people are affected by protein C deficiency ? 
 Mild protein C deficiency affects approximately 1 in 500 individuals. Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns.
This is a medical question of type : genetic changes 
 What are the genetic changes related to protein C deficiency ? 
 Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting.  Most of the mutations that cause protein C deficiency change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein C to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the number of PROC gene mutations an individual has.
This is a medical question of type : inheritance 
 Is protein C deficiency inherited ? 
 Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency.
This is a medical question of type : treatment 
 What are the treatments for protein C deficiency ? 
 These resources address the diagnosis or management of protein C deficiency:  - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant  - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency  - MedlinePlus Encyclopedia: Necrosis  - MedlinePlus Encyclopedia: Protein C  - MedlinePlus Encyclopedia: Purpura   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
This is a medical question of type : information 
 What is (are) X-linked chondrodysplasia punctata 1 ? 
 X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood.  Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge.  People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.
This is a medical question of type : frequency 
 How many people are affected by X-linked chondrodysplasia punctata 1 ? 
 The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature.
This is a medical question of type : genetic changes 
 What are the genetic changes related to X-linked chondrodysplasia punctata 1 ? 
 X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSE gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.  Between 60 and 75 percent of males with the characteristic features of X-linked chondrodysplasia punctata 1 have a mutation in the ARSE gene. These mutations reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSE gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E. Researchers are working to determine how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1.  Some people with the features of X-linked chondrodysplasia punctata 1 do not have an identified mutation in the ARSE gene or a deletion involving the gene. Other, as-yet-unidentified genetic and environmental factors may also be involved in causing this disorder.
This is a medical question of type : inheritance 
 Is X-linked chondrodysplasia punctata 1 inherited ? 
 This condition is inherited in an X-linked recessive pattern. The gene associated with this condition 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 ARSE 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.
This is a medical question of type : treatment 
 What are the treatments for X-linked chondrodysplasia punctata 1 ? 
 These resources address the diagnosis or management of X-linked chondrodysplasia punctata 1:  - Gene Review: Gene Review: Chondrodysplasia Punctata 1, X-Linked  - Genetic Testing Registry: Chondrodysplasia punctata 1, X-linked recessive   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
This is a medical question of type : information 
 What is (are) warfarin resistance ? 
 Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, or a prior blood clot in the deep veins of the arms or legs (deep vein thrombosis).  There are two types of warfarin resistance: incomplete and complete. Those with incomplete warfarin resistance can achieve the benefits of warfarin treatment with a high dose of warfarin. Individuals with complete warfarin resistance do not respond to warfarin treatment, no matter how high the dose. If people with warfarin resistance require treatment with warfarin and take the average dose, they will remain at risk of developing a potentially harmful blood clot.  Both types of warfarin resistance are related to how the body processes warfarin. In some people with warfarin resistance, their blood clotting process does not react effectively to the drug. Others with this resistance rapidly break down (metabolize) warfarin, so the medication is quickly processed by their bodies; these individuals are classified as "fast metabolizers" or "rapid metabolizers" of warfarin. The severity of these abnormal processes determines whether the warfarin resistance is complete or incomplete.  Warfarin resistance does not appear to cause any health problems other than those associated with warfarin drug treatment.
This is a medical question of type : frequency 
 How many people are affected by warfarin resistance ? 
 Warfarin resistance is thought to be a rare condition, although its prevalence is unknown.
This is a medical question of type : genetic changes 
 What are the genetic changes related to warfarin resistance ? 
 Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the VKORC1 gene account for 20 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism.  The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots. Warfarin prevents (inhibits) the action of VKORC1 by binding to the complex and preventing it from binding to and activating the clotting proteins, stopping clot formation. Certain VKORC1 gene polymorphisms lead to the formation of a VKORC1 enzyme with a decreased ability to bind to warfarin. This reduction in warfarin binding causes incomplete warfarin resistance and results in more warfarin being needed to inhibit the VKORC1 enzyme and stop the clotting process. If no warfarin can bind to the VKORC1 enzyme, the result is complete warfarin resistance.  While changes in specific genes affect how the body reacts to warfarin, many other factors, including gender, age, weight, diet, and other medications, also play a role in the body's interaction with this drug.
This is a medical question of type : inheritance 
 Is warfarin resistance inherited ? 
 The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin resistance have a higher tolerance for the drug's effect or are able to process the drug more quickly.
This is a medical question of type : treatment 
 What are the treatments for warfarin resistance ? 
 These resources address the diagnosis or management of warfarin resistance:  - American Society of Hematology: Antithrombotic Therapy  - MedlinePlus Drugs & Supplements: Warfarin  - PharmGKB   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
This is a medical question of type : information 
 What is (are) Feingold syndrome ? 
 Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.  Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes.  People with Feingold syndrome are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Additional common features of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disability. Less often, affected individuals have hearing loss, impaired growth, and kidney and heart abnormalities.
This is a medical question of type : frequency 
 How many people are affected by Feingold syndrome ? 
 Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Feingold syndrome ? 
 Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor.  Mutations in the MYCN gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the specific features of Feingold syndrome.
This is a medical question of type : inheritance 
 Is Feingold 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.
This is a medical question of type : treatment 
 What are the treatments for Feingold syndrome ? 
 These resources address the diagnosis or management of Feingold syndrome:  - Gene Review: Gene Review: Feingold Syndrome 1  - Genetic Testing Registry: Feingold syndrome 1  - Genetic Testing Registry: Feingold syndrome 2  - MedlinePlus Encyclopedia: Duodenal Atresia  - MedlinePlus Encyclopedia: Esophageal Atresia  - MedlinePlus Encyclopedia: Microcephaly  - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes   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
This is a medical question of type : information 
 What is (are) hypercholesterolemia ? 
 Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.  People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.  Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.
This is a medical question of type : frequency 
 How many people are affected by hypercholesterolemia ? 
 More than 34 million American adults have elevated blood cholesterol levels (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. This condition affects about 1 in 500 people in most countries. Familial hypercholesterolemia occurs more frequently in certain populations, including Afrikaners in South Africa, French Canadians, Lebanese, and Finns.
This is a medical question of type : genetic changes 
 What are the genetic changes related to hypercholesterolemia ? 
 Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia.  High blood cholesterol levels typically result from a combination of genetic and environmental risk factors. Lifestyle choices including diet, exercise, and tobacco smoking strongly influence the amount of cholesterol in the blood. Additional factors that impact cholesterol levels include a person's gender, age, and health problems such as diabetes and obesity. A small percentage of all people with high cholesterol have an inherited form of hypercholesterolemia. The most common cause of inherited high cholesterol is a condition known as familial hypercholesterolemia, which results from mutations in the LDLR gene.  The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood. By removing low-density lipoproteins from the bloodstream, these receptors play a critical role in regulating cholesterol levels. Some LDLR mutations reduce the number of low-density lipoprotein receptors produced within cells. Other mutations disrupt the receptors' ability to remove low-density lipoproteins from the bloodstream. As a result, people with mutations in the LDLR gene have very high levels of blood cholesterol. As the excess cholesterol circulates through the bloodstream, it is deposited abnormally in tissues such as the skin, tendons, and arteries that supply blood to the heart.  Less commonly, hypercholesterolemia can be caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. Changes in the APOB gene result in a form of inherited hypercholesterolemia known as familial defective apolipoprotein B-100 (FDB). LDLRAP1 mutations are responsible for another type of inherited high cholesterol, autosomal recessive hypercholesterolemia (ARH). Proteins produced from the APOB, LDLRAP1, and PCSK9 genes are essential for the normal function of low-density lipoprotein receptors. Mutations in any of these genes prevent the cell from making functional receptors or alter the receptors' function. Hypercholesterolemia results when low-density lipoprotein receptors are unable to remove cholesterol from the blood effectively.  Researchers are working to identify and characterize additional genes that may influence cholesterol levels and the risk of heart disease in people with hypercholesterolemia.
This is a medical question of type : inheritance 
 Is hypercholesterolemia inherited ? 
 Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.  Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. An affected person typically inherits one altered copy of the gene from an affected parent and one normal copy of the gene from the other parent.  Rarely, a person with familial hypercholesterolemia is born with two mutated copies of the LDLR gene. This situation occurs when the person has two affected parents, each of whom passes on one altered copy of the gene. The presence of two LDLR mutations results in a more severe form of hypercholesterolemia that usually appears in childhood.  When hypercholesterolemia is caused by mutations in the LDLRAP1 gene, the condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results from two altered copies of the gene in each cell. The parents of an individual with autosomal recessive hypercholesterolemia each carry one copy of the altered gene, but their blood cholesterol levels are usually in the normal range.