umarjan11/Medical-qna huggingface dataset:
Question: What is (are) hidradenitis suppurativa ?

Answer: Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. As the abscesses heal, they produce significant scarring of the skin.  The signs and symptoms of hidradenitis suppurativa appear after puberty, usually in a person's teens or twenties. Nodules are most likely to form in the armpits and groin. They may also develop around the anus, on the buttocks, or under the breasts. In some cases, nodules appear in other areas, such as the nape of the neck, waist, and inner thighs.  The recurrent nodules and abscesses cause chronic pain and can lead to self-consciousness, social isolation, and depression. Rarely, nodules on the buttocks can develop into a type of skin cancer called squamous cell carcinoma.
Question: What are the genetic changes related to FOXG1 syndrome ?

Answer: As its name suggests, FOXG1 syndrome is caused by changes involving the FOXG1 gene. This gene provides instructions for making a protein called forkhead box G1. This protein plays an important role in brain development before birth, particularly in a region of the embryonic brain known as the telencephalon. The telencephalon ultimately develops into several critical structures, including the the largest part of the brain (the cerebrum), which controls most voluntary activity, language, sensory perception, learning, and memory.  In some cases, FOXG1 syndrome is caused by mutations within the FOXG1 gene itself. In others, the condition results from a deletion of genetic material from a region of the long (q) arm of chromosome 14 that includes the FOXG1 gene. All of these genetic changes prevent the production of forkhead box G1 or impair the protein's function. A shortage of functional forkhead box G1 disrupts normal brain development starting before birth, which appears to underlie the structural brain abnormalities and severe developmental problems characteristic of FOXG1 syndrome.
Question: What are the genetic changes related to juvenile Batten disease ?

Answer: Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown.  It is unclear how mutations in the CLN3 gene lead to the characteristic features of juvenile Batten disease. These mutations somehow disrupt the function of cellular structures called lysosomes. Lysosomes are compartments in the cell that normally digest and recycle different types of molecules. Lysosome malfunction leads to a buildup of fatty substances called lipopigments within these cell structures. These accumulations occur in cells throughout the body, but neurons in the brain seem to be particularly vulnerable to the damage caused by lipopigments. The progressive death of cells, especially in the brain, leads to vision loss, seizures, and intellectual decline in people with juvenile Batten disease.  A small percentage of cases of juvenile Batten disease are caused by mutations in other genes. Many of these genes are involved in lysosomal function, and when mutated, can cause this or other forms of NCL.
Question: What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ?

Answer: SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use. Ceramides have several roles within cells. For example, they are a component of a fatty substance called myelin that insulates and protects nerve cells.  ASAH1 gene mutations that cause SMA-PME result in a reduction of acid ceramidase activity to a level less than one-third of normal. Inefficient breakdown of ceramides and impaired production of its breakdown products likely play a role in the nerve cell damage that leads to the features of SMA-PME, but the exact mechanism is unknown.
Question: What are the treatments for familial hypertrophic cardiomyopathy ?

Answer: These resources address the diagnosis or management of familial hypertrophic cardiomyopathy:  - Cleveland Clinic  - Gene Review: Gene Review: Hypertrophic Cardiomyopathy Overview  - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 1  - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 2  - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 4  - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 7  - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy  - Stanford University Hospitals and Clinics  - The Sarcomeric Human Cardiomyopathies Registry (ShaRe)   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: Is mitochondrial complex III deficiency inherited ?

Answer: Mitochondrial complex III deficiency is usually 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.  In some cases caused by mutations in the MT-CYB gene, the condition is not inherited; it is caused by new mutations in the gene that occur in people with no history of the condition in their family. Other cases caused by mutations in the MT-CYB gene are inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
Question: What are the genetic changes related to globozoospermia ?

Answer: 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.
Question: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?

Answer: Phosphorus is a mineral found in many foods. If you have too much phosphorus in your blood, it pulls calcium from your bones. Losing calcium will make your bones weak and likely to break. Also, too much phosphorus may make your skin itch. Foods like milk and cheese, dried beans, peas, colas, nuts, and peanut butter are high in phosphorus. Usually, people on dialysis are limited to 1/2 cup of milk per day. The renal dietitian will give you more specific information regarding phosphorus.
                
You probably will need to take a phosphate binder like Renagel, PhosLo, Tums, or calcium carbonate to control the phosphorus in your blood between dialysis sessions. These medications act like sponges to soak up, or bind, phosphorus while it is in the stomach. Because it is bound, the phosphorus does not get into the blood. Instead, it is passed out of the body in the stool.
Question: What are the treatments for Simple Kidney Cysts ?

Answer: Treatment is not needed for simple kidney cysts that do not cause any symptoms. Simple kidney cysts may be monitored with periodic ultrasounds.
                
Simple kidney cysts that are causing symptoms or blocking the flow of blood or urine through the kidney may need to be treated using a procedure called sclerotherapy. In sclerotherapy, the doctor punctures the cyst using a long needle inserted through the skin. Ultrasound is used to guide the needle to the cyst. The cyst is drained and then filled with a solution containing alcohol to make the kidney tissue harder. The procedure is usually performed on an outpatient basis with a local anesthetic.
                
If the cyst is large, surgery may be needed. Most surgeries can be performed using a laparoscopea special tool with a small, lighted video camera. The procedure is usually done under general anesthesia in a hospital. The surgeon drains the cyst and then removes or burns away its outer tissue. This type of surgery allows for a smaller incision and quicker recovery.
Question: What is (are) Alpha-1 Antitrypsin Deficiency ?

Answer: Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs.    Symptoms of AAT deficiency include       - Shortness of breath and wheezing    - Repeated lung infections    - Tiredness    - Rapid heartbeat upon standing    - Vision problems    - Weight loss       Some people have no symptoms and do not develop complications.    Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Ureteral Disorders ?

Answer: Your kidneys make urine by filtering wastes and extra water from your blood. The urine travels from the kidneys to the bladder in two thin tubes called ureters.    The ureters are about 8 to 10 inches long. Muscles in the ureter walls tighten and relax to force urine down and away from the kidneys. Small amounts of urine flow from the ureters into the bladder about every 10 to 15 seconds.    Sometimes the ureters can become blocked or injured. This can block the flow of urine to the bladder. If urine stands still or backs up the ureter, you may get a urinary tract infections.    Doctors diagnose problems with the ureters using different tests. These include urine tests, x-rays, and examination of the ureter with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) High Blood Pressure in Pregnancy ?

Answer: If you are pregnant, high blood pressure can cause problems for you and your unborn baby. You may have had high blood pressure before you got pregnant. Or you may get it once you are pregnant - a condition called gestational hypertension. Either one can cause low birth weight or premature delivery of the baby.    Controlling your blood pressure during pregnancy and getting regular prenatal care are important for the health of you and your baby. Treatments for high blood pressure in pregnancy may include close monitoring of the baby, lifestyle changes, and certain medicines.    Some pregnant women with high blood pressure develop preeclampsia. It's a sudden increase in blood pressure after the 20th week of pregnancy. It can be life-threatening for both you and the unborn baby. There is no proven way to prevent it. Most women who have signs of preeclampsia are closely monitored to lessen or avoid complications. The only way to "cure" preeclampsia is to deliver the baby.    NIH: National Heart, Lung, and Blood Institute
Question: Do you have information about Asbestos

Answer: Summary : Asbestos is the name of a group of minerals with long, thin fibers. It was once used widely as insulation. It also occurs in the environment. Asbestos fibers are so small you can't see them. If you disturb asbestos, the fibers can float in the air. This makes them easy to inhale, and some may become lodged in the lungs.    If you breathe in high levels of asbestos over a long period of time, the fibers can build up in the lungs. This causes scarring and inflammation, and can affect breathing. Eventually it can lead to diseases such as       - Asbestosis, or scarring of the lungs that makes it hard to breathe    - Mesothelioma, a rare cancer that affects the lining of the lungs or abdomen    - Lung cancer       Lung diseases associated with asbestos usually develop over many years. People who become ill from asbestos are usually exposed on the job over long periods of time. Smoking cigarettes increases the risk.    Agency for Toxic Substances and Disease Registry
Question: What is (are) Cataract ?

Answer: A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery.    A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are       - Blurry vision    - Colors that seem faded    - Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights.    - Not being able to see well at night    - Double vision     - Frequent prescription changes in your eye wear        Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts.    NIH: National Eye Institute
Question: What is (are) Gas ?

Answer: Everyone has gas. Most people pass gas 13 to 21 times a day. Passing gas through the mouth is called belching or burping. Passing gas through the anus is called flatulence. Most of the time gas does not have an odor. The odor comes from bacteria in the large intestine that release small amounts of gases that contain sulfur.    Gas in the digestive tract comes from two sources: air that you swallow and the breakdown of undigested food by bacteria in the large intestine. Certain foods may cause gas. Foods that produce gas in one person may not cause gas in another.    You can reduce the amount of gas you have by       - Drinking lots of water and non-fizzy drinks    - Eating more slowly so you swallow less air when you eat    - Avoiding milk products if you have lactose intolerance       Medicines can help reduce gas or the pain and bloating caused by gas. If your symptoms still bother you, see your health care provider.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What causes Mowat-Wilson syndrome ?

Answer: What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. It is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.
Question: Is Factor V Leiden thrombophilia inherited ?

Answer: How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father.  Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes. Heterozygotes have a 50% chance with each pregnancy of passing the mutated gene to their offspring (and therefore they also have a 50% chance of having a child who does not inherit the gene mutation). People who inherit two copies of the mutation, one from each parent, are called homozygotes. Homozygotes will always pass one copy of the mutated gene to their offspring. If both parents are heterozygotes (carry one factor V Leiden mutation) than they would have a 25% chance of having a child with two factor V Leiden mutations, a 25% chance of having a child with no mutations, and a 50% chance of having a child with one mutation.
Question: What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ?

Answer: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. BPES type 2 consists only of the eyelid malformations, whereas  BPES type 1 also causes premature ovarian failure. It is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant manner. Treatment typically consists of various eyelid surgeries to correct the malformations.
Question: What is (are) Episodic ataxia ?

Answer: Episodic ataxia refers to a group of related conditions that affect the nervous system and cause problems with movement. It is characterized by episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood, with the frequency of attacks ranging from several per day to one or two per year. There are at least seven types of episodic ataxia, designated type 1 through type 7, which are distinguished by their signs and symptoms, age of onset, length of attacks, and, when known, genetic cause. Only types 1 and 2 have been identified in more than one family; episodic ataxia type 2 is the most common form of the condition.
Question: What is (are) Pityriasis lichenoides et varioliformis acuta ?

Answer: Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its own within a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Although PLEVA is diagnosed in people of all ages, it most commonly affects children and young adults. The exact underlying cause is unknown, but some scientists suspect that it may occur due to an exaggerated immune response or an overproduction of certain white blood cells (lymphoproliferative disorder). If treatment is necessary, recommended therapies may include oral antibiotic, sun exposure, topical steroids, immunomodulators (medications used to help regulate or normalize the immune system), phototherapy and/or systemic steroids.
Question: What is (are) Hemangioendothelioma ?

Answer: The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show "borderline" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas. Hemangioendotheliomas are caused by abnormal growth of blood vessel cells, although the exact underlying cause for the abnormal growth is unknown. They can also develop in an organ, such as the liver or lung. They usually grow slowly and can sometimes spread to other tissues in the body (metastasize). Examples of types of hemangioendotheliomas include spindle cell hemangioma; papillary intralymphatic (Dabska tumor); retiform; kaposiform; epithelioid; pseudomyogenic (epithelioid sarcoma-like hemangioendothelioma); and composite. Treatment depends on the type of hemangioendothelioma present but typically includes surgical excision (removal).
Question: What is (are) West syndrome ?

Answer: West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found.
Question: What is (are) 22q13.3 deletion syndrome ?

Answer: 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome.