umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Nonspherocytic hemolytic anemia due to hexokinase deficiency ?

Answer: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.
Question: What is (are) Pili annulati ?

Answer: Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as "striped" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage.  Pili annulati can present in infancy, childhood, or later in life. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported.
Question: What is (are) Primary hyperoxaluria type 2 ?

Answer: Primary hyperoxaluria type 2  is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.
Question: What are the treatments for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ?

Answer: Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. Several prescription eye medications are available for treatment. However, the infection can be difficult to treat. The best treatment regimen for each patient should be determined by an eye doctor. If you suspect your eye may be infected with Acanthamoeba, see an eye doctor immediately.
    
Skin infections that are caused by Acanthamoeba but have not spread to the central nervous system can be successfully treated. Because this is a serious infection and the people affected typically have weakened immune systems, early diagnosis offers the best chance at cure.
    
Most cases of brain and spinal cord infection with Acanthamoeba (Granulomatous Amebic Encephalitis) are fatal.
Question: What are the symptoms of Cardiomyopathy ?

Answer: Some people who have cardiomyopathy never have signs or symptoms. Others don't have signs or symptoms in the early stages of the disease.
                
As cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. These signs and symptoms include:
                
Shortness of breath or trouble breathing, especially with physical exertion
                
Fatigue (tiredness)
                
Swelling in the ankles, feet, legs, abdomen, and veins in the neck
                
Other signs and symptoms may include dizziness; light-headedness; fainting during physical activity; arrhythmias (irregular heartbeats); chest pain, especially after physical exertion or heavy meals; and heart murmurs. (Heart murmurs are extra or unusual sounds heard during a heartbeat.)
Question: What is (are) Tourette Syndrome ?

Answer: Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors.
Question: What are the treatments for Spinal Cord Injury ?

Answer: Improved emergency care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and even restore limited abilities. Respiratory complications are often an indication of the severity of spinal cord injury About one-third of those with injury to the neck area will need help with breathing and require respiratory support. The steroid drug methylprednisolone appears to reduce the damage to nerve cells if it is given within the first 8 hours after injury. Rehabilitation programs combine physical therapies with skill-building activities and counseling to provide social and emotional support.Electrical simulation of nerves by neural prosthetic devices may restore specific functions, including bladder, breathing, cough, and arm or leg movements, though eligibility for use of these devices depends on the level and type of the spinal cord injury.
Question: Is McLeod neuroacanthocytosis syndrome inherited ?

Answer: McLeod neuroacanthocytosis syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. Rarely, females with a mutation in one copy of the XK gene can have the characteristic misshapen blood cells and movement problems associated with McLeod neuroacanthocytosis syndrome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: Is epidermolytic hyperkeratosis inherited ?

Answer: Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family.  When epidermolytic hyperkeratosis is inherited, it is usually in an autosomal dominant pattern, which means one copy of the altered KRT1 or KRT10 gene in each cell is sufficient to cause the disorder.  Very rarely, epidermolytic hyperkeratosis caused by mutations in the KRT10 gene can be 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.
Question: What are the genetic changes related to congenital central hypoventilation syndrome ?

Answer: Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, many tissues in the face and skull, and other tissue and cell types.  Mutations are believed to interfere with the PHOX2B protein's role in promoting neuron formation and differentiation, especially in the autonomic nervous system, resulting in the problems regulating breathing and other body functions that occur in CCHS.
Question: What are the genetic changes related to progressive osseous heteroplasia ?

Answer: Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein.  In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions. The protein produced from the GNAS gene is believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis), preventing bony tissue from being produced outside the skeleton.  The GNAS gene mutations that cause progressive osseous heteroplasia disrupt the function of the G protein and impair its ability to regulate osteogenesis. As a result, bony tissue grows outside the skeleton and causes the complications associated with this disorder.
Question: What is (are) mal de Meleda ?

Answer: Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).
Question: What are the genetic changes related to Feingold syndrome ?

Answer: Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor.  Mutations in the MYCN gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the specific features of Feingold syndrome.
Question: How to prevent What I need to know about Kidney Stones ?

Answer: To prevent kidney stones, you need to know what caused your kidney stone. Your doctor may ask you to try to catch the kidney stone as it passes in your urine. The kidney stone can then be sent to a lab to find out what type of stone it is. If you have treatment in the hospital and the doctor removes the stone, it will also be sent to a lab for testing.
                
Your doctor may ask you to collect your urine for 24 hours after the stone has passed or been removed. Your doctor can then measure how much urine you produce in a day and mineral levels in the urine. You are more likely to form stones if you dont make enough urine each day or have a problem with mineral levels.
                
Once you know what type of kidney stone you had, you can make changes in your eating, diet, and nutrition and take medicines to prevent future kidney stones.
Question: What is (are) Anemia of Inflammation and Chronic Disease ?

Answer: Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. Hemoglobin is an iron-rich protein that gives blood its red color and lets red blood cells transport oxygen from the lungs to the bodys tissues. Therefore, low numbers of red blood cells or low levels of hemoglobin also cause low blood iron levels.
                
People with anemia may feel tired because their blood does not supply enough oxygen to the bodys organs and tissues. If anemia becomes severe and prolonged, the lack of oxygen in the blood can lead to shortness of breath or exercise intolerancea condition in which a person becomes easily fatigued during or after physical activityand eventually can cause the heart and other organs to fail.
Question: What is (are) Sexual Assault ?

Answer: Sexual assault is any sexual activity to which you haven't freely given your consent. This includes completed or attempted sex acts that are against your will. Sometimes it can involve a victim who is unable to consent. It also includes abusive sexual contact. It can happen to men, women or children.    The attacker can be anyone - a current or former partner, a family member, a person in position of power or trust, a friend, an acquaintance, or a stranger.    Sexual assault can affect your health in many ways. It can lead to long-term health and emotional problems. It is important to seek help if you have been assaulted. First, get to a safe place. Then dial 9-1-1 or go to a hospital for medical care. You may want to have counseling to deal with your feelings. The most important thing to know is that the assault was not your fault.    Centers for Disease Control and Prevention
Question: What is (are) Esophagus Disorders ?

Answer: The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong.     The most common problem with the esophagus is gastroesophageal reflux disease (GERD). It happens when a band of muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus. Other problems include heartburn and cancer.    Treatment depends on the problem. Some get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.
Question: Do you have information about Radiation Emergencies

Answer: Summary : Radiation is a type of energy. People are exposed to small amounts of radiation every day from sources such as sunlight. A radiation emergency would involve larger amounts of radiation and could be caused by       -  Dirty bombs - a mix of explosives with radioactive powder    - Fallout from a nuclear bomb    -  Accidental release from a nuclear reactor or a nuclear weapons plant       A lot of radiation over a short period can cause burns or radiation sickness. If the exposure is large enough, it can cause premature aging or even death.    Although there are no guarantees of safety during a radiation emergency, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Centers for Disease Control and Prevention
Question: What is (are) Nasal Cancer ?

Answer: Your paranasal sinuses are small hollow spaces around the nose. They are lined with cells that make mucus, which keeps your nose from drying out. The nasal cavity is the passageway just behind your nose. Air passes through it on the way to your throat as you breathe.    Cancer of the nasal cavity and paranasal sinuses is rare. You are at greater risk if you are       - Male and over 40 years old    - Exposed to certain workplace chemicals    - Infected with HPV    - A smoker       There may be no symptoms at first, and later symptoms can be like those of infections. Doctors diagnose nasal cancer with imaging tests, lighted tube-like instruments that look inside the nose, and biopsies. Treatment options include surgery, radiation, and chemotherapy.     NIH: National Cancer Institute
Question: What is (are) Thyroid Diseases ?

Answer: Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism.    Thyroid problems include       - Goiter - enlargement of the thyroid gland    - Hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs    - Hypothyroidism - when your thyroid gland does not make enough thyroid hormones    - Thyroid cancer    - Thyroid nodules - lumps in the thyroid gland    - Thyroiditis - swelling of the thyroid       Dept. of Health and Human Services Office on Women's Health
Question: Do you have information about Personal Health Records

Answer: Summary : You've probably seen your chart at your doctor's office. In fact, you may have charts at several doctors' offices. If you've been in the hospital, you have a chart there, too. These charts are your medical records. They may be on paper or electronic. To keep track of all this information, it's a good idea to keep your own personal health record.     What kind of information would you put in a personal health record? You could start with       -  Your name, birth date, blood type, and emergency contact information    -  Date of last physical    -  Dates and results of tests and screenings    -  Major illnesses and surgeries, with dates    -  A list of your medicines and supplements, the dosages, and how long you've taken them    -  Any allergies    -  Any chronic diseases    -  Any history of illnesses in your family
Question: What is (are) Rabson-Mendenhall syndrome ?

Answer: Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.
Question: What is (are) Tyrosinemia type 1 ?

Answer: Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.
Question: What are the treatments for Cohen syndrome ?

Answer: How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections)  is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness.
Question: What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ?

Answer: How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications.
Question: What causes Pityriasis lichenoides et varioliformis acuta ?

Answer: What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated with PLEVA include: Toxoplasma gondii    Epstein-Barr virus HIV Cytomegalovirus Parvovirus (fifth disease) Staphylococcus aureus Group A beta-haemolytic streptococci Others scientists think the condition may be a benign lymphoproliferative disorder. These conditions are characterized by an overproduction of certain white blood cells (lymphocytes) which can result in tissue and organ damage.
Question: What is (are) Inflammatory linear verrucous epidermal nevus ?

Answer: Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to early childhood. It affects females more often than males. It usually occurs alone. Rarely ILVEN occurs in association with epidermal nevus syndrome. While rare ILVEN may become cancerous (i.e., transform to basal cell or squamous cell carcinoma). The cause of ILVEN is currently unknown. Click here to visit the DermNetNZ Web site and view an image of ILVEN.