randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : information 
 What is (are) capillary malformation-arteriovenous malformation syndrome ? 
 Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.  CM-AVM is characterized by capillary malformations (CMs), which are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like multiple small, round, pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, arms, and legs. These spots may be visible from birth or may develop during childhood. By themselves, capillary malformations usually do not cause any health problems.  In some people with CM-AVM, capillary malformations are the only sign of the disorder. However, other affected individuals also have more serious vascular abnormalities known as arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins, and capillaries that affect blood circulation. Depending on where they occur in the body, these abnormalities can be associated with complications including abnormal bleeding, migraine headaches, seizures, and heart failure. In some cases the complications can be life-threatening. In people with CM-AVM, complications of AVMs and AVFs tend to appear in infancy or early childhood; however, some of these vascular abnormalities never cause any symptoms.  Some vascular abnormalities seen in CM-AVM are similar to those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.
This is a medical question of type : frequency 
 How many people are affected by capillary malformation-arteriovenous malformation syndrome ? 
 CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown.
This is a medical question of type : genetic changes 
 What are the genetic changes related to capillary malformation-arteriovenous malformation syndrome ? 
 CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system.  Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein's activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities seen in people with CM-AVM.
This is a medical question of type : inheritance 
 Is capillary malformation-arteriovenous malformation 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.  In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
This is a medical question of type : treatment 
 What are the treatments for capillary malformation-arteriovenous malformation syndrome ? 
 These resources address the diagnosis or management of CM-AVM:  - Gene Review: Gene Review: RASA1-Related Disorders  - Genetic Testing Registry: Capillary malformation-arteriovenous malformation   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) 6q24-related transient neonatal diabetes mellitus ? 
 6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.  People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life.  Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay.
This is a medical question of type : frequency 
 How many people are affected by 6q24-related transient neonatal diabetes mellitus ? 
 Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes mellitus. In about half of these babies, the diabetes is transient. Researchers estimate that approximately 70 percent of transient diabetes in newborns is caused by 6q24-related transient neonatal diabetes mellitus.
This is a medical question of type : inheritance 
 Is 6q24-related transient neonatal diabetes mellitus inherited ? 
 Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.  Sometimes, the genetic change responsible for 6q24-related transient neonatal diabetes mellitus is inherited. For example, a duplication of genetic material on the paternal chromosome 6 can be passed from one generation to the next.  When 6q24-related transient neonatal diabetes mellitus is caused by ZFP57 gene mutations, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance 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.
This is a medical question of type : treatment 
 What are the treatments for 6q24-related transient neonatal diabetes mellitus ? 
 These resources address the diagnosis or management of 6q24-related transient neonatal diabetes mellitus:  - Gene Review: Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal  - Genetic Testing Registry: Transient neonatal diabetes mellitus 1  - The Merck Manual for Healthcare Professionals  - University of Chicago Kovler Diabetes Center   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
This is a medical question of type : information 
 What is (are) nonbullous congenital ichthyosiform erythroderma ? 
 Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red (erythema) and covered with fine white scales. Some people with NBCIE have outward turning eyelids and lips, a thickening of the skin on the palms and soles of the feet (keratoderma), and nails that do not grow normally (nail dystrophy). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.
This is a medical question of type : frequency 
 How many people are affected by nonbullous congenital ichthyosiform erythroderma ? 
 NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected.
This is a medical question of type : genetic changes 
 What are the genetic changes related to nonbullous congenital ichthyosiform erythroderma ? 
 Mutations in at least three genes can cause NBCIE. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with NBCIE disrupt this protective barrier, making it more difficult for affected infants to control water loss, regulate body temperature, and fight infections.  Mutations in the ALOX12B and ALOXE3 genes are responsible for the majority of cases of NBCIE. Mutations in one other gene associated with this condition are found in only a small percentage of cases. In some people with NBCIE, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with NBCIE.
This is a medical question of type : inheritance 
 Is nonbullous congenital ichthyosiform erythroderma inherited ? 
 This condition is 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.
This is a medical question of type : treatment 
 What are the treatments for nonbullous congenital ichthyosiform erythroderma ? 
 These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma:  - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments  - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis  - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2   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) type 1 diabetes ? 
 Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood.  Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.  Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.  Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.
This is a medical question of type : frequency 
 How many people are affected by type 1 diabetes ? 
 Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in Asia and South America, with reported incidences as low as 1 in 1 million per year. For unknown reasons, during the past 20 years the worldwide incidence of type 1 diabetes has been increasing by 2 to 5 percent each year.  Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes worldwide. Most people with diabetes have type 2 diabetes, in which the body continues to produce insulin but becomes less able to use it.
This is a medical question of type : genetic changes 
 What are the genetic changes related to type 1 diabetes ? 
 The causes of type 1 diabetes are unknown, although several risk factors have been identified. The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.  Type 1 diabetes is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. For unknown reasons, in people with type 1 diabetes the immune system damages the insulin-producing beta cells in the pancreas. Damage to these cells impairs insulin production and leads to the signs and symptoms of type 1 diabetes.  HLA genes, including HLA-DQA1, HLA-DQB1, and HLA-DRB1, have many variations, and individuals have a certain combination of these variations, called a haplotype. Certain HLA haplotypes are associated with a higher risk of developing type 1 diabetes, with particular combinations of HLA-DQA1, HLA-DQB1, and HLA-DRB1 gene variations resulting in the highest risk. These haplotypes seem to increase the risk of an inappropriate immune response to beta cells. However, these variants are also found in the general population, and only about 5 percent of individuals with the gene variants develop type 1 diabetes. HLA variations account for approximately 40 percent of the genetic risk for the condition. Other HLA variations appear to be protective against the disease. Additional contributors, such as environmental factors and variations in other genes, are also thought to influence the development of this complex disorder.
This is a medical question of type : inheritance 
 Is type 1 diabetes inherited ? 
 A predisposition to develop type 1 diabetes is passed through generations in families, but the inheritance pattern is unknown.
This is a medical question of type : treatment 
 What are the treatments for type 1 diabetes ? 
 These resources address the diagnosis or management of type 1 diabetes:  - Food and Drug Administration: Blood Glucose Measuring Devices  - Food and Drug Administration: Insulin  - Genetic Testing Registry: Diabetes mellitus type 1  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 10  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 11  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 12  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 13  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 15  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 17  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 18  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 19  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 2  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 20  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 21  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 22  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 23  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 24  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 3  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 4  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 5  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 6  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 7  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 8  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, X-linked, susceptibility to  - MedlinePlus Encyclopedia: Anti-Insulin Antibody Test  - MedlinePlus Encyclopedia: Home Blood Sugar Testing  - MedlinePlus Health Topic: Islet Cell Transplantation  - MedlinePlus Health Topic: Pancreas Transplantation  - Type 1 Diabetes in Adults: National Clinical Guideline for Diagnosis and Management in Primary and Secondary Care (2004)  - Type 1 Diabetes: Diagnosis and Management of Type 1 Diabetes in Children and Young People (2004)   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) campomelic dysplasia ? 
 Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.  The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.  Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries.  Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia.  Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.
This is a medical question of type : frequency 
 How many people are affected by campomelic dysplasia ? 
 The prevalence of campomelic dysplasia is uncertain; estimates range from 1 in 40,000 to 200,000 people.
This is a medical question of type : genetic changes 
 What are the genetic changes related to campomelic dysplasia ? 
 Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton and reproductive organs.  Most cases of campomelic dysplasia are caused by mutations within the SOX9 gene. These mutations prevent the production of the SOX9 protein or result in a protein with impaired function. About 5 percent of cases are caused by chromosome abnormalities that occur near the SOX9 gene; these cases tend to be milder than those caused by mutations within the SOX9 gene. The chromosome abnormalities disrupt regions of DNA that normally regulate the activity of the SOX9 gene. All of these genetic changes prevent the SOX9 protein from properly controlling the genes essential for normal development of the skeleton, reproductive system, and other parts of the body. Abnormal development of these structures causes the signs and symptoms of campomelic dysplasia.