umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Tetra-amelia syndrome ?

Answer: How is tetra-amelia syndrome diagnosed? The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied. Is genetic testing available for tetra-amelia syndrome? Genetic testing for tetra-amelia syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for tetra-amelia syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Question: What is (are) Lichen planus pigmentosus ?

Answer: Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the exact underlying cause of LPP is unknown, studies suggest that UV light, viral infections, and certain topical (applied to the skin) agents such as mustard oil and amla oil, may trigger the condition. Treatment for LPP is symptomatic.
Question: What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?

Answer: Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids.  People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and 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.  Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF).  This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.
Question: What is (are) Stuve-Wiedemann syndrome ?

Answer: Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Treatment is symptomatic and supportive.
Question: What is (are) Postural orthostatic tachycardia syndrome ?

Answer: Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Although POTS can affect men and women of all ages, most cases are diagnosed in women between the ages of 15 and 50. The exact underlying cause of POTS is currently unknown. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Treatment aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition.
Question: What are the symptoms of Heart Murmur ?

Answer: People who have innocent (harmless) heart murmurs don't have any signs or symptoms other than the murmur itself. This is because innocent heart murmurs aren't caused by heart problems.
                
People who have abnormal heart murmurs may have signs or symptoms of the heart problems causing the murmurs. These signs and symptoms may include:
                
Poor eating and failure to grow normally (in infants)
                
Shortness of breath, which may occur only with physical exertion
                
Excessive sweating with minimal or no exertion
                
Chest pain
                
Dizziness or fainting
                
A bluish color on the skin, especially on the fingertips and lips
                
Chronic cough
                
Swelling or sudden weight gain
                
Enlarged liver
                
Enlarged neck veins
                
Signs and symptoms depend on the problem causing the heart murmur and its severity.
Question: What is (are) Cerebellar Hypoplasia ?

Answer: Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes. In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.
Question: What are the genetic changes related to FG syndrome ?

Answer: Researchers have identified changes in five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in a gene called MED12, which is located in one of these regions, appear to be the most common cause of the disorder. Researchers are investigating genes in other regions of the X chromosome that may also be associated with FG syndrome.  The MED12 gene provides instructions for making a protein that helps regulate gene activity. Specifically, the MED12 protein forms part of a large complex (a group of proteins that work together) that turns genes on and off. The MED12 protein is thought to play an essential role in development both before and after birth.  At least two mutations in the MED12 gene have been found to cause FG syndrome. Although the mutations alter the structure of the MED12 protein, it is unclear how they lead to intellectual disability, behavioral changes, and the physical features associated with this condition.
Question: What are the treatments for autosomal dominant nocturnal frontal lobe epilepsy ?

Answer: These resources address the diagnosis or management of ADNFLE:  - Gene Review: Gene Review: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy  - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 1  - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 2  - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 3  - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 4  - MedlinePlus Encyclopedia: Epilepsy   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: What are the genetic changes related to myoclonus-dystonia ?

Answer: Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells.  SGCE gene mutations that cause myoclonus-dystonia result in a shortage of -sarcoglycan protein. The protein shortage seems to affect the regions of the brain involved in coordinating movements (the cerebellum) and controlling movements (the basal ganglia). Thus, the movement problems experienced by people with myoclonus-dystonia are caused by dysfunction in the brain, not the muscles. People with this condition show no signs of muscle disease. It is unknown why SGCE gene mutations seem only to affect the brain.
Question: What is (are) distal hereditary motor neuropathy, type V ?

Answer: Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.  Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. Cramps in the hand brought on by exposure to cold temperatures are often the initial symptom.  The characteristic features of distal hereditary motor neuropathy, type V are weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb side of the index finger and in the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common, and some affected individuals eventually develop problems with walking (gait disturbance). People with this disorder have normal life expectancies.
Question: What is (are) platyspondylic lethal skeletal dysplasia, Torrance type ?

Answer: Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). Infants with this condition are born with a small chest with short ribs that can restrict the growth and expansion of the lungs.  As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with platyspondylic lethal skeletal dysplasia, Torrance type usually die at birth or shortly thereafter from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood.
Question: What is (are) corticosteroid-binding globulin deficiency ?

Answer: Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience chronic pain, particularly in their muscles. These features vary among affected individuals, even those within the same family.  Many people with corticosteroid-binding globulin deficiency have only one or two of these features; others have no signs and symptoms of the disorder and are only diagnosed after a relative is found to be affected.  Some people with corticosteroid-binding globulin deficiency also have a condition called chronic fatigue syndrome. The features of chronic fatigue syndrome are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches.
Question: Is thrombocytopenia-absent radius syndrome inherited ?

Answer: TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chromosome 1. The affected individual usually inherits an RBM8A gene mutation from one parent. In about 75 percent of cases, the affected person inherits a copy of chromosome 1 with the 200-kb deletion from the other parent. In the remaining cases, the deletion occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. Although parents of an individual with TAR syndrome can carry an RBM8A gene mutation or a 200-kb deletion, they typically do not show signs and symptoms of the condition.
Question: What are the treatments for Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?

Answer: The sulfone dapsone can provide immediate relief of symptoms. For patients who cannot tolerate dapsone, sulfapyridine or sulfamethoxypyridazine may be used, although these medications are less effective than dapsone. A strict gluten-free diet is the only treatment for the underlying disease. Even with a gluten-free diet, medication therapy may need to be continued from a few months to 2 years.
                
DH can go into remission, which is defined as absence of skin lesions and symptoms of DH for more than 2 years while not taking sulfones or other treatments and not adhering to a gluten-free diet. Cohort studies showing DH remission provide support for reducing sulfone therapy and weaning from a gluten-free diet in patients with well-controlled DH.6
Question: What is (are) High Blood Pressure ?

Answer: Abnormal blood pressure is higher than 120/80 mmHg. If either your systolic or diastolic blood pressure is higher than normal (120/80) but not high enough to be considered high blood pressure (140/90), you have pre-hypertension. Pre-hypertension is a top number between 120 and 139 or a bottom number between 80 and 89 mmHg. For example, blood pressure readings of 138/82, 128/70, or 115/86 are all in the "pre-hypertension" range. (Click the table on the right to see the stages of high blood pressure in adults.) The ranges in the table are blood pressure guides for adults who do not have any short-term serious illnesses. People with diabetes or chronic kidney disease should keep their blood pressure below 130/80 mmHg.
Question: Who is at risk for Childhood Soft Tissue Sarcoma? ?

Answer: Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk.    Risk factors for childhood soft tissue sarcoma include having the following inherited disorders:         -  Li-Fraumeni syndrome.     -  Familial adenomatous polyposis (FAP).    -  Retinoblastoma 1 gene changes.    -  Neurofibromatosis type 1 (NF1).    -  Werner syndrome.        Other risk factors include the following:         - Past treatment with radiation therapy.    - Having AIDS (acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time.
Question: Who is at risk for Testicular Cancer? ?

Answer: A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for testicular cancer include the following:          - Having cryptorchidism (an undescended testicle).    - Having a testicle that is not normal, such as a small testicle that does not work the way it should.    - Having testicular carcinoma in situ.    - Being white.    - Having a personal or family history of testicular cancer.    - Having Klinefelter syndrome.        Men who have cryptorchidism, a testicle that is not normal, or testicular carcinoma in situ have an increased risk of testicular cancer in one or both testicles, and need to be followed closely.
Question: Who is at risk for Testicular Cancer? ?

Answer: Health history can affect the risk of testicular cancer.
	                    Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for testicular cancer include:          - Having had an undescended testicle.    - Having had abnormal development of the testicles.    - Having a personal history of testicular cancer.    - Having a family history of testicular cancer (especially in a father or brother).    - Being white.
	                
	                
	                    Treatment for testicular cancer can cause infertility.
	                    Certain treatments for testicular cancer can cause infertility that may be permanent. Patients who may wish to have children should consider sperm banking before having treatment. Sperm banking is the process of freezing sperm and storing it for later use.
Question: What is (are) Lactose Intolerance ?

Answer: Lactose intolerance means that you cannot digest foods with lactose in them. Lactose is the sugar found in milk and foods made with milk. After eating foods with lactose in them, you may feel sick to your stomach. You may also have       -  Gas     -  Diarrhea     -  Swelling in your stomach        Your doctor may do a blood, breath or stool test to find out if your problems are due to lactose intolerance.    Lactose intolerance is not serious. Eating less food with lactose, or using pills or drops to help you digest lactose usually helps. You may need to take a calcium supplement if you don't get enough of it from your diet, since milk and foods made with milk are the most common source of calcium for most people.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Fractures ?

Answer: A fracture is a break, usually in a bone. If the broken bone punctures the skin, it is called an open or compound fracture. Fractures commonly happen because of car accidents, falls, or sports injuries. Other causes are low bone density and osteoporosis, which cause weakening of the bones. Overuse can cause stress fractures, which are very small cracks in the bone.     Symptoms of a fracture are       - Intense pain    - Deformity - the limb looks out of place    - Swelling, bruising, or tenderness around the injury    - Numbness and tingling    - Problems moving a limb       You need to get medical care right away for any fracture. An x-ray can tell if your bone is broken. You may need to wear a cast or splint. Sometimes you need surgery to put in plates, pins or screws to keep the bone in place.
Question: What is (are) Uterine Diseases ?

Answer: The uterus, or womb, is the place where a baby grows when a woman is pregnant. The first sign of a problem with the uterus may be bleeding between periods or after sex. Causes can include hormones, thyroid problems, fibroids, polyps, cancer, infection, or pregnancy.    Treatment depends on the cause. Sometimes birth control pills treat hormonal imbalances. If a thyroid problem is the cause, treating it may also stop the bleeding. If you have cancer or hyperplasia, an overgrowth of normal cells in the uterus, you may need surgery.    With two other uterine problems, tissue that normally lines the uterus grows where it is not supposed to. In endometriosis, it grows outside the uterus. In adenomyosis, it grows in the uterus's outside walls. Pain medicine may help. Other treatments include hormones and surgery.
Question: What is (are) Impetigo ?

Answer: Impetigo is a skin infection caused by bacteria. It is usually caused by staphylococcal (staph) bacteria, but it can also be caused by streptococcal (strep) bacteria. It is most common in children between the ages of two and six. It usually starts when bacteria get into a break in the skin, such as a cut, scratch, or insect bite.     Symptoms start with red or pimple-like sores surrounded by red skin. These sores can be anywhere, but usually they occur on your face, arms and legs. The sores fill with pus, then break open after a few days and form a thick crust. They are often itchy, but scratching them can spread the sores.     Impetigo can spread by contact with sores or nasal discharge from an infected person. You can treat impetigo with antibiotics.     NIH: National Institute of Allergy and Infectious Diseases
Question: What is (are) Carotid Artery Disease ?

Answer: Your carotid arteries are two large blood vessels in your neck. They supply your brain with blood. If you have carotid artery disease, the arteries become narrow, usually because of atherosclerosis. This is the buildup of cholesterol and other material in an artery. If a blood clot sticks in the narrowed arteries, blood can't reach your brain. This is one of the causes of stroke.     Carotid artery disease often does not cause symptoms, but there are tests that can tell your doctor if you have it. If the arteries are very narrow, you may need an operation called an endarterectomy to remove the plaque. For less severe narrowing, a medicine to prevent blood clots can reduce your risk of stroke. Another option for people who can't have surgery is carotid angioplasty. This involves placing balloons and/or stents into the artery to open it and hold it open.
Question: What is (are) Brachial Plexus Injuries ?

Answer: The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves.    Symptoms may include       - A limp or paralyzed arm    - Lack of muscle control in the arm, hand, or wrist    - Lack of feeling or sensation in the arm or hand       Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. Sometimes they happen during childbirth when a baby's shoulders become stuck during delivery and the nerves stretch or tear.    Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment includes physical therapy and, in some cases, surgery.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Pelvic Pain ?

Answer: Pelvic pain occurs mostly in the lower abdomen area. The pain might be steady, or it might come and go. If the pain is severe, it might get in the way of your daily activities.    If you're a woman, you might feel a dull pain during your period. It could also happen during sex. Pelvic pain can be a sign that there is a problem with one of the organs in your pelvic area, such as the uterus, ovaries, fallopian tubes, cervix or vagina. It could also be a symptom of infection, or a problem with the urinary tract, lower intestines, rectum, muscle or bone. If you're a man, the cause is often a problem with the prostate.    You might have to undergo a lot of medical tests to find the cause of the pain. The treatment will depend on the cause, how bad the pain is and how often it occurs.    NIH: National Institute of Child Health and Human Development