randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : genetic changes 
 What are the genetic changes related to globozoospermia ? 
 Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia.  The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein is involved in the development of the acrosome and elongation of the sperm head, which are integral steps in sperm cell maturation. Mutations in the DPY19L2 gene result in a loss of functional DPY19L2 protein. As a result, sperm cells have no acrosome and do not elongate properly. Without an acrosome, the abnormal sperm are unable to get through the outer membrane of an egg cell to fertilize it, leading to infertility in affected men. Researchers have described other characteristics of the abnormal sperm cells that make fertilization of an egg cell difficult, although it is not clear how changes in the DPY19L2 gene are involved in development of these characteristics.
This is a medical question of type : inheritance 
 Is globozoospermia 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 globozoospermia ? 
 These resources address the diagnosis or management of globozoospermia:  - Association for Reproductive Medicine: Semen Analysis  - Centers for Disease Control: Assisted Reproductive Technology (ART)  - Genetic Testing Registry: Globozoospermia  - MedlinePlus Encyclopedia: Semen Analysis  - MedlinePlus Health Topic: Assisted Reproductive Technology   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) recurrent hydatidiform mole ? 
 Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients to a growing fetus. If a hydatidiform mole occurs once, it is known a sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole.  A hydatidiform mole often causes vaginal bleeding in the first trimester of the pregnancy. In an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes. In some cases, the ultrasound shows no fetus, umbilical cord, or amniotic sac (a fluid-filled sac that normally surrounds the fetus).  Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind (persistent mole) will continue to grow and become a cancerous tumor called an invasive mole. The invasive mole can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.
This is a medical question of type : frequency 
 How many people are affected by recurrent hydatidiform mole ? 
 Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western countries and are more common in developing countries. One to six percent of previously affected women will have a recurrent hydatidiform mole.
This is a medical question of type : genetic changes 
 What are the genetic changes related to recurrent hydatidiform mole ? 
 Mutations in the NLRP7 or KHDC3L gene can cause recurrent hydatidiform mole, with NLRP7 gene mutations being the most common cause.  Within egg cells (oocytes), both the NLRP7 and KHDC3L proteins are thought to play a role in turning off (inactivating) certain genes based on which parent the copy of the gene came from, a phenomenon known as genomic imprinting. For most genes, both copies of the gene (one copy inherited from each parent) are active in all cells. For a small subset of genes, however, only one of the two copies is active; for some of these genes, the copy from the father is normally active, while for others, the copy from the mother is normally active. The NLRP7 and KHDC3L proteins are likely involved in imprinting multiple maternal genes in oocytes, ensuring that they will be inactive in the developing embryo; the corresponding paternal genes are active.  NLRP7 or KHDC3L gene mutations result in the production of proteins with impaired function. As a result, multiple genes that contribute to a developing embryo are not imprinted properly, leading to abnormal gene activity (expression) in all pregnancies. Because many genes that would normally be inactive are instead active, embryonic development is impaired, resulting in a hydatidiform mole.  The NLRP7 protein has also been found to play a role in cell growth and division (proliferation) and cell maturation (differentiation). Research suggests that the NLRP7 protein plays an additional role in immune responses by regulating the release of an immune protein called interleukin-1 beta. Normally, the immune system would recognize a hydatidiform mole as a non-growing pregnancy or foreign tissue and signal the body to remove it. Because the impaired NLRP7 protein slows interleukin-1 beta release, the body cannot trigger an immune response to the abnormal pregnancy. Instead, the hydatidiform mole remains in the body. The cause of the retention of the pregnancy in women with KHDC3L gene mutations is unclear.  In some cases of recurrent hydatidiform mole, no mutations in either of these genes have been identified. In these instances, the cause of the condition is unknown.  When there is only a single instance of hydatidiform mole, it is often caused by abnormal fertilization of an egg. In sporadic hydatidiform mole, the embryo either receives genetic information only from sperm cells because the egg has no DNA-containing nucleus, or the embryo receives too much genetic information because two sperm cells fertilized one egg.
This is a medical question of type : inheritance 
 Is recurrent hydatidiform mole inherited ? 
 This condition is often inherited in an autosomal recessive pattern, which means a woman has to have mutations in both copies of the gene in each of her cells to have recurrent hydatidiform mole pregnancies. Because the mutations are present in all of a woman's cells, including oocytes (which need these genes to promote normal embryonic development), a hydatidiform mole will develop in each pregnancy that occurs with those egg cells.
This is a medical question of type : treatment 
 What are the treatments for recurrent hydatidiform mole ? 
 These resources address the diagnosis or management of recurrent hydatidiform mole:  - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease  - Genetic Testing Registry: Hydatidiform mole  - Genetic Testing Registry: Hydatidiform mole, recurrent, 2  - MedlinePlus Encyclopedia: Choriocarcinoma  - MedlinePlus Encyclopedia: Hydatidiform Mole   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) core binding factor acute myeloid leukemia ? 
 Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.  People with CBF-AML have a shortage of all types of mature blood cells: a shortage of white blood cells (leukopenia) leads to increased susceptibility to infections, a low number of red blood cells (anemia) causes fatigue and weakness, and a reduction in the amount of platelets (thrombocytopenia) can result in easy bruising and abnormal bleeding. Other symptoms of CBF-AML may include fever and weight loss.  While acute myeloid leukemia is generally a disease of older adults, CBF-AML often begins in young adulthood and can occur in childhood. Compared to other forms of acute myeloid leukemia, CBF-AML has a relatively good prognosis: about 90 percent of individuals with CBF-AML recover from their disease following treatment, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia. However, the disease recurs in approximately half of them after successful treatment of the initial occurrence.
This is a medical question of type : frequency 
 How many people are affected by core binding factor acute myeloid leukemia ? 
 Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults.
This is a medical question of type : genetic changes 
 What are the genetic changes related to core binding factor acute myeloid leukemia ? 
 CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). CBF attaches to certain regions of DNA and turns on genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells. Chromosomal rearrangements involving the RUNX1 or CBFB gene alter CBF, leading to leukemia.  In CBF-AML, the RUNX1 gene is affected by a type of genetic rearrangement known as a translocation; in this type of change, pieces of DNA from two chromosomes break off and are interchanged. The most common translocation in this condition, called t(8;21), fuses a part of the RUNX1 gene on chromosome 21 with part of the RUNX1T1 gene (also known as ETO) on chromosome 8. The combination of these genes leads to production of the RUNX1-ETO fusion protein. This fusion protein is able to form CBF and attach to DNA, like the normal RUNX1 protein. However, because the function of the protein produced from the normal RUNX1T1 gene is to block gene activity, the abnormal CBF turns genes off instead of turning them on.  Other genetic rearrangements associated with CBF-AML alter the CBFB gene. One such rearrangement, called an inversion, involves breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. The inversion involved in CBF-AML (written as inv(16)) leads to the fusion of two genes on chromosome 16, CBFB and MYH11. Less commonly, a translocation involving chromosome 16, written as t(16;16), leads to the fusion of the same two genes. The protein produced from these genetic rearrangements is called CBF-MYH11. The fusion protein can form CBF, but it is thought that the presence of the MYH11 portion of the fusion protein prevents CBF from binding to DNA, impairing its ability to control gene activity. Alternatively, the MYH11 portion may interact with other proteins that prevent CBF from controlling gene activity.  The change in gene activity caused by alteration of CBF blocks the maturation (differentiation) of blood cells and leads to the production of abnormal myeloid blasts. However, a chromosomal rearrangement alone is usually not enough to cause leukemia; one or more additional genetic changes are needed for cancer to develop. The additional changes likely cause the immature cells to grow and divide uncontrollably, leading to the excess of myeloid blasts characteristic of CBF-AML.
This is a medical question of type : inheritance 
 Is core binding factor acute myeloid leukemia inherited ? 
 CBF-AML is not inherited but arises from genetic rearrangements in the body's cells that occur after conception.
This is a medical question of type : treatment 
 What are the treatments for core binding factor acute myeloid leukemia ? 
 These resources address the diagnosis or management of core binding factor acute myeloid leukemia:  - Fred Hutchinson Cancer Research Center  - Genetic Testing Registry: Acute myeloid leukemia  - National Cancer Institute: Acute Myeloid Leukemia Treatment  - St. Jude Children's Research Hospital   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) Gillespie syndrome ? 
 Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.  Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). In most affected individuals, only part of the iris is missing (partial aniridia) in both eyes, but in some affected individuals, partial aniridia affects only one eye, or the entire iris is missing (complete aniridia) in one or both eyes. The absence of all or part of the iris can cause blurry vision (reduced visual acuity) and increased sensitivity to light (photophobia). Rapid, involuntary eye movements (nystagmus) can also occur in Gillespie syndrome.  The balance and movement problems in Gillespie syndrome result from underdevelopment (hypoplasia) of a part of the brain called the cerebellum. This abnormality can cause delayed development of motor skills such as walking. In addition, difficulty controlling the muscles in the mouth can lead to delayed speech development. The difficulties with coordination generally become noticeable in early childhood when the individual is learning these skills. People with Gillespie syndrome usually continue to have an unsteady gait and speech problems. However, the problems do not get worse over time, and in some cases they improve slightly.  Other features of Gillespie syndrome can include abnormalities in the bones of the spine (vertebrae) and malformations of the heart.
This is a medical question of type : frequency 
 How many people are affected by Gillespie syndrome ? 
 The prevalence of Gillespie syndrome is unknown. Only a few dozen affected individuals have been described in the medical literature. It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Gillespie syndrome ? 
 Gillespie syndrome can be caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in early development, including the development of the eyes and brain. The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor.  Mutations in the PAX6 gene result in the absence of the PAX6 protein or production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. This lack of functional protein disrupts embryonic development, especially the development of the eyes and brain, leading to the signs and symptoms of Gillespie syndrome.  Most people with Gillespie syndrome do not have mutations in the PAX6 gene. In these affected individuals, the cause of the disorder is unknown.
This is a medical question of type : inheritance 
 Is Gillespie syndrome inherited ? 
 In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit 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.  Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. 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 Gillespie syndrome ? 
 These resources address the diagnosis or management of Gillespie syndrome:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Intellectual and Developmental Disabilities?  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities?  - Genetic Testing Registry: Aniridia, cerebellar ataxia, and mental retardation   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) pachyonychia congenita ? 
 Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life.  Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. Many affected children also develop very painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. This condition is known as palmoplantar keratoderma. Severe blisters and calluses on the feet can make it painful or impossible to walk.  Pachyonychia congenita can have several additional features, which vary among affected individuals. These features include thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps called follicular keratoses that develop around hair follicles on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Rarely, pachyonychia congenita can affect the voice box (larynx), potentially leading to hoarseness or breathing problems.  Researchers used to split pachyonychia congenita into two types, PC-1 and PC-2, based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the features of the two types overlapped considerably. Now researchers prefer to describe pachyonychia congenita based on the gene that is altered.
This is a medical question of type : frequency 
 How many people are affected by pachyonychia congenita ? 
 Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder.
This is a medical question of type : genetic changes 
 What are the genetic changes related to pachyonychia congenita ? 
 Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nails.  When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene mutations cause PC-K6b, KRT6C gene mutations cause PC-K6c, KRT16 gene mutations cause PC-K16, and KRT17 gene mutations cause PC-K17.  Mutations in keratin genes alter the structure of keratin proteins, which prevents these proteins from forming strong, stable networks within cells. Without this network, skin cells become fragile and are easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as walking can cause skin cells to break down, resulting in the formation of severe, painful blisters and calluses. Defective keratins also disrupt the growth and function of cells in the hair follicles and nails, resulting in the other features of pachyonychia congenita.
This is a medical question of type : inheritance 
 Is pachyonychia congenita inherited ? 
 Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in the gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
This is a medical question of type : treatment 
 What are the treatments for pachyonychia congenita ? 
 These resources address the diagnosis or management of pachyonychia congenita:  - Gene Review: Gene Review: Pachyonychia Congenita  - Genetic Testing Registry: Pachyonychia congenita 4  - Genetic Testing Registry: Pachyonychia congenita syndrome  - Genetic Testing Registry: Pachyonychia congenita type 2  - Genetic Testing Registry: Pachyonychia congenita, type 1  - MedlinePlus Encyclopedia: Nail Abnormalities  - MedlinePlus Encyclopedia: Natal Teeth   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