randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : information 
 What is (are) acute promyelocytic leukemia ? 
 Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.  People with acute promyelocytic leukemia are especially susceptible to developing bruises, small red dots under the skin (petechiae), nosebleeds, bleeding from the gums, blood in the urine (hematuria), or excessive menstrual bleeding. The abnormal bleeding and bruising occur in part because of the low number of platelets in the blood (thrombocytopenia) and also because the cancerous cells release substances that cause excessive bleeding.  The low number of red blood cells (anemia) can cause people with acute promyelocytic leukemia to have pale skin (pallor) or excessive tiredness (fatigue). In addition, affected individuals may heal slowly from injuries or have frequent infections due to the loss of normal white blood cells that fight infection. Furthermore, the leukemic cells can spread to the bones and joints, which may cause pain in those areas. Other general signs and symptoms may occur as well, such as fever, loss of appetite, and weight loss.  Acute promyelocytic leukemia is most often diagnosed around age 40, although it can be diagnosed at any age.
This is a medical question of type : frequency 
 How many people are affected by acute promyelocytic leukemia ? 
 Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in 250,000 people in the United States.
This is a medical question of type : genetic changes 
 What are the genetic changes related to acute promyelocytic leukemia ? 
 The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17. A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. The protein produced from this fused gene is known as PML-RAR. This mutation is acquired during a person's lifetime and is present only in certain cells. This type of genetic change, called a somatic mutation, is not inherited.  The PML-RAR protein functions differently than the protein products of the normal PML and RARA genes. The protein produced from the RARA gene, RAR, is involved in the regulation of gene transcription, which is the first step in protein production. Specifically, this protein helps control the transcription of certain genes important in the maturation (differentiation) of white blood cells beyond the promyelocyte stage. The protein produced from the PML gene acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The PML-RAR protein interferes with the normal function of both the PML and the RAR proteins. As a result, blood cells are stuck at the promyelocyte stage, and they proliferate abnormally. Excess promyelocytes accumulate in the bone marrow and normal white blood cells cannot form, leading to acute promyelocytic leukemia.  The PML-RARA gene fusion accounts for up to 98 percent of cases of acute promyelocytic leukemia. Translocations involving the RARA gene and other genes have been identified in a few cases of acute promyelocytic leukemia.
This is a medical question of type : inheritance 
 Is acute promyelocytic leukemia inherited ? 
 Acute promyelocytic leukemia is not inherited but arises from a translocation in the body's cells that occurs after conception.
This is a medical question of type : treatment 
 What are the treatments for acute promyelocytic leukemia ? 
 These resources address the diagnosis or management of acute promyelocytic leukemia:  - American Cancer Society: Diagnosis of Acute Myeloid Leukemia  - American Cancer Society: Treatment of Acute Promyelocytic (M3) Leukemia  - Genetic Testing Registry: Acute promyelocytic leukemia  - MedlinePlus Encyclopedia: Acute Myeloid Leukemia  - National Cancer Institute: Adult Acute Myeloid Leukemia Treatment  - National Cancer Institute: Leukemia  - National Heart Lung and Blood Institute: Bone Marrow Tests   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) Horner syndrome ? 
 Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital).  Horner syndrome is characterized by drooping of the upper eyelid (ptosis) on the affected side, a constricted pupil in the affected eye (miosis) resulting in unequal pupil size (anisocoria), and absent sweating (anhidrosis) on the affected side of the face. Sinking of the eye into its cavity (enophthalmos) and a bloodshot eye often occur in this disorder. In people with Horner syndrome that occurs before the age of 2, the colored part (iris) of the eyes may differ in color (iris heterochromia), with the iris of the affected eye being lighter in color than that of the unaffected eye. Individuals who develop Horner syndrome after age 2 do not generally have iris heterochromia.  The abnormalities in the eye area related to Horner syndrome do not generally affect vision or health. However, the nerve damage that causes Horner syndrome may result from other health problems, some of which can be life-threatening.
This is a medical question of type : frequency 
 How many people are affected by Horner syndrome ? 
 About 1 in 6,250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Horner syndrome ? 
 Although congenital Horner syndrome can be passed down in families, no associated genes have been identified. Horner syndrome that appears after the newborn period (acquired Horner syndrome) and most cases of congenital Horner syndrome result from damage to nerves called the cervical sympathetics. These nerves belong to the part of the nervous system that controls involuntary functions (the autonomic nervous system). Within the autonomic nervous system, the nerves are part of a subdivision called the sympathetic nervous system. The cervical sympathetic nerves control several functions in the eye and face such as dilation of the pupil and sweating. Problems with the function of these nerves cause the signs and symptoms of Horner syndrome. Horner syndrome that occurs very early in life can lead to iris heterochromia because the development of the pigmentation (coloring) of the iris is under the control of the cervical sympathetic nerves.  Damage to the cervical sympathetic nerves can be caused by a direct injury to the nerves themselves, which can result from trauma that might occur during a difficult birth, surgery, or accidental injury. The nerves related to Horner syndrome can also be damaged by a benign or cancerous tumor, for example a childhood cancer of the nerve tissues called a neuroblastoma.  Horner syndrome can also be caused by problems with the artery that supplies blood to the head and neck (the carotid artery) on the affected side, resulting in loss of blood flow to the nerves. Some individuals with congenital Horner syndrome have a lack of development (agenesis) of the carotid artery. Tearing of the layers of the carotid artery wall (carotid artery dissection) can also lead to Horner syndrome.  The signs and symptoms of Horner syndrome can also occur during a migraine headache. When the headache is gone, the signs and symptoms of Horner syndrome usually also go away.  Some people with Horner syndrome have neither a known problem that would lead to nerve damage nor any history of the disorder in their family. These cases are referred to as idiopathic Horner syndrome.
This is a medical question of type : inheritance 
 Is Horner syndrome inherited ? 
 Horner syndrome is usually not inherited and occurs in individuals with no history of the disorder in their family. Acquired Horner syndrome and most cases of congenital Horner syndrome have nongenetic causes. Rarely, congenital Horner syndrome is passed down within a family in a pattern that appears to be autosomal dominant, which means one copy of an altered gene in each cell is sufficient to cause the disorder. However, no genes associated with Horner syndrome have been identified.
This is a medical question of type : treatment 
 What are the treatments for Horner syndrome ? 
 These resources address the diagnosis or management of Horner syndrome:  - Genetic Testing Registry: Horner syndrome, congenital   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) giant axonal neuropathy ? 
 Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses.  Giant axonal neuropathy generally appears in infancy or early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy, occurring in almost all affected people.  As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures.
This is a medical question of type : frequency 
 How many people are affected by giant axonal neuropathy ? 
 Giant axonal neuropathy is a very rare disorder; the incidence is unknown.
This is a medical question of type : genetic changes 
 What are the genetic changes related to giant axonal neuropathy ? 
 Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN gene mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin protein.  Gigaxonin is involved in a cellular function that destroys and gets rid of excess or damaged proteins using a mechanism called the ubiquitin-proteasome system. Neurons without functional gigaxonin accumulate excess neurofilaments in the axon, causing the axons to become distended. These giant axons do not transmit signals properly and eventually deteriorate, resulting in problems with movement and other nervous system dysfunction.
This is a medical question of type : inheritance 
 Is giant axonal neuropathy 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 giant axonal neuropathy ? 
 These resources address the diagnosis or management of giant axonal neuropathy:  - Gene Review: Gene Review: Giant Axonal Neuropathy  - Genetic Testing Registry: Giant axonal neuropathy   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) familial hemophagocytic lymphohistiocytosis ? 
 Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.  Familial hemophagocytic lymphohistiocytosis also destroys blood-producing cells in the bone marrow, a process called hemophagocytosis. As a result, affected individuals have low numbers of red blood cells (anemia) and a reduction in the number of blood cells involved in clotting (platelets). A reduction in platelets may cause easy bruising and abnormal bleeding.  The brain may also be affected in familial hemophagocytic lymphohistiocytosis. As a result, affected individuals may experience irritability, delayed closure of the bones of the skull in infants, neck stiffness, abnormal muscle tone, impaired muscle coordination, paralysis, blindness, seizures, and coma. In addition to neurological problems, familial hemophagocytic lymphohistiocytosis can cause abnormalities of the heart, kidneys, and other organs and tissues. Affected individuals also have an increased risk of developing cancers of blood-forming cells (leukemia and lymphoma).  Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become apparent during infancy, although occasionally they appear later in life. They usually occur when the immune system launches an exaggerated response to an infection, but may also occur in the absence of infection. Without treatment, most people with familial hemophagocytic lymphohistiocytosis survive only a few months.
This is a medical question of type : frequency 
 How many people are affected by familial hemophagocytic lymphohistiocytosis ? 
 Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide.
This is a medical question of type : genetic changes 
 What are the genetic changes related to familial hemophagocytic lymphohistiocytosis ? 
 Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes. These genes provide instructions for making proteins that help destroy or deactivate lymphocytes that are no longer needed. By controlling the number of activated lymphocytes, these genes help regulate immune system function.  Approximately 40 to 60 percent of cases of familial hemophagocytic lymphohistiocytosis are caused by mutations in the PRF1 or UNC13D genes. Smaller numbers of cases are caused by mutations in other known genes. In some affected individuals, the genetic cause of the disorder is unknown.  The gene mutations that cause familial hemophagocytic lymphohistiocytosis impair the body's ability to regulate the immune system. These changes result in the exaggerated immune response characteristic of this condition.
This is a medical question of type : inheritance 
 Is familial hemophagocytic lymphohistiocytosis 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 familial hemophagocytic lymphohistiocytosis ? 
 These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis:  - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial  - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 2  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 3  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 4  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 5  - The Merck Manual for Healthcare Professionals  - University of Minnesota: Pediatric Blood & Marrow Transplantation 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) dopamine transporter deficiency syndrome ? 
 Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later.  People with dopamine transporter deficiency syndrome develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia is widespread (generalized), affecting many different muscles. The continuous muscle cramping and spasms cause difficulty with basic activities, including speaking, eating, drinking, picking up objects, and walking.  As the condition worsens, affected individuals develop parkinsonism, which is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, and an inability to hold the body upright and balanced (postural instability). Other signs and symptoms that can develop include abnormal eye movements; reduced facial expression (hypomimia); disturbed sleep; frequent episodes of pneumonia; and problems with the digestive system, including a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation.  People with dopamine transporter deficiency syndrome may have a shortened lifespan, although the long-term effects of this condition are not fully understood. Children with this condition have died from pneumonia and breathing problems. When the first signs and symptoms appear later in life, affected individuals may survive into adulthood.
This is a medical question of type : frequency 
 How many people are affected by dopamine transporter deficiency syndrome ? 
 Dopamine transporter deficiency syndrome appears to be a rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe that the condition is probably underdiagnosed because its signs and symptoms overlap with cerebral palsy and other movement disorders.
This is a medical question of type : genetic changes 
 What are the genetic changes related to dopamine transporter deficiency syndrome ? 
 Dopamine transporter deficiency syndrome is caused by mutations in the SLC6A3 gene. This gene provides instructions for making a protein called the dopamine transporter. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. Dopamine is a chemical messenger (neurotransmitter) that relays signals from one neuron to another. Dopamine has many important functions, including playing complex roles in thought (cognition), motivation, behavior, and control of movement.  Mutations in the SLC6A3 gene impair or eliminate the function of the dopamine transporter. The resulting shortage (deficiency) of functional transporter disrupts dopamine signaling in the brain. Although dopamine has a critical role in controlling movement, it is unclear how altered dopamine signaling causes the specific movement abnormalities found in people with dopamine transporter deficiency syndrome.  Studies suggest that the age at which signs and symptoms appear is related to how severely the function of the dopamine transporter is affected. Affected individuals who develop movement problems starting in infancy most often have transporter activity that is less than 5 percent of normal. Those whose movement problems appear in childhood or later tend to have somewhat higher levels of transporter activity, although they are still lower than normal. Researchers speculate that higher levels of transporter activity may delay the onset of the disease in these individuals.
This is a medical question of type : inheritance 
 Is dopamine transporter deficiency syndrome 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 dopamine transporter deficiency syndrome ? 
 These resources address the diagnosis or management of dopamine transporter deficiency syndrome:  - Gene Review: Gene Review: Parkinson Disease Overview  - Genetic Testing Registry: Infantile Parkinsonism-dystonia   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) globozoospermia ? 
 Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).  Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.
This is a medical question of type : frequency 
 How many people are affected by globozoospermia ? 
 Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility.