umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ?

Answer: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time. Other symptoms may include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. The earlier the onset the more severe the disease is. The diagnosis is made in persons who had the characteristic abnormalities observed on brain and spinal cord MRI scans and with the genetic test identifiying the DARS2 gene alteration (mutation). There is still no cure and treatment is supportive and includes physical therapy and rehabilitation to improve movement function, and the following as needed: antiepileptic drugs, special education and speech therapy.
Question: What is (are) Triple A syndrome ?

Answer: Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.
Question: What causes Kawasaki syndrome ?

Answer: What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and can, when present in large quantities, can cause tissue damage. Researchers believe that variations in the ITPKC gene may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the symptoms of this disease. It is likely that other factors, including changes in additional genes, also influence the development of this complex disorder. What causes Kawasaki syndrome? The cause of Kawasaki syndrome isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics is not well understood. Kawasaki syndrome is not contagious; it can't be passed from one child to another.
Question: Who is at risk for Peripheral Artery Disease? ?

Answer: Peripheral artery disease (P.A.D.) affects millions of people in the United States. The disease is more common in blacks than any other racial or ethnic group.The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions.
                
Smoking
                
Smoking is the main risk factor for P.A.D. and your risk increases if you smoke or have a history of smoking. Quitting smoking slows the progress of P.A.D. People who smoke and people who have diabetes are at highest risk for P.A.D. complications, such as gangrene (tissue death) in the leg from decreased blood flow.
                
Older Age
                
Older age also is a risk factor for P.A.D. Plaque builds up in your arteries as you age.Older age combined with other risk factors, such as smoking or diabetes, also puts you at higher risk for P.A.D.
                
Diseases and Conditions
                
Many diseases and conditions can raise your risk of P.A.D., including:
                
Diabetes
                
High blood pressure
                
High blood cholesterol
                
Coronary heart disease
                
Stroke
                
Metabolic syndrome
Question: What is (are) renal coloboma syndrome ?

Answer: Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys.  Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision.  Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.
Question: Is Langer mesomelic dysplasia inherited ?

Answer: Langer mesomelic dysplasia has a pseudoautosomal recessive pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both sex chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) normally have two functional copies of the SHOX gene in each cell. The inheritance pattern of Langer mesomelic dysplasia is described as recessive because both copies of the SHOX gene in each cell must be missing or altered to cause the disorder. In females, the condition results when the gene is missing or altered on both copies of the X chromosome; in males, it results when the gene is missing or altered on the X chromosome and the Y chromosome.  A related skeletal disorder called Lri-Weill dyschondrosteosis occurs when one copy of the SHOX gene is mutated in each cell. This disorder has signs and symptoms that are similar to, but typically less severe than, those of Langer mesomelic dysplasia.
Question: What are the treatments for chronic granulomatous disease ?

Answer: These resources address the diagnosis or management of chronic granulomatous disease:  - American Academy of Allergy, Asthma, and Immunology  - Gene Review: Gene Review: Chronic Granulomatous Disease  - Genetic Testing Registry: Chronic granulomatous disease, X-linked  - Genetic Testing Registry: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1  - Genetic Testing Registry: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2  - Genetic Testing Registry: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3  - Genetic Testing Registry: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative  - MedlinePlus Encyclopedia: Chronic Granulomatous Disease  - Primary Immune Deficiency Treatment Consortium   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 treatments for epidermolysis bullosa simplex ?

Answer: These resources address the diagnosis or management of epidermolysis bullosa simplex:  - Dystrophic Epidermolysis Bullosa Research Association (DebRA) of America: Wound Care  - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center  - Gene Review: Gene Review: Epidermolysis Bullosa Simplex  - Genetic Testing Registry: Epidermolysis bullosa simplex  - Genetic Testing Registry: Epidermolysis bullosa simplex with mottled pigmentation  - Genetic Testing Registry: Epidermolysis bullosa simplex, Cockayne-Touraine type  - Genetic Testing Registry: Epidermolysis bullosa simplex, Koebner type  - Genetic Testing Registry: Epidermolysis bullosa simplex, Ogna type  - Genetic Testing Registry: Epidermolysis bullosa simplex, autosomal recessive  - MedlinePlus Encyclopedia: Epidermolysis Bullosa   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 short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?

Answer: SHORT syndrome results from mutations in the PIK3R1 gene. This gene provides instructions for making one part (subunit) of an enzyme called PI3K, which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival. Studies suggest that PI3K signaling may be involved in the regulation of several hormones, including insulin, which helps control blood sugar levels. PI3K signaling may also play a role in the maturation of fat cells (adipocytes).  Mutations in the PIK3R1 gene alter the structure of the subunit, which reduces the ability of PI3K to participate in cell signaling. Researchers are working to determine how these changes lead to the specific features of SHORT syndrome. PI3K's role in insulin activity may be related to the development of insulin resistance and diabetes, and problems with adipocyte maturation might contribute to lipoatrophy in affected individuals. It is unclear how reduced PI3K signaling is associated with the other features of the condition.
Question: What are the genetic changes related to multicentric osteolysis, nodulosis, and arthropathy ?

Answer: MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.  The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA. Researchers suspect that it somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, resulting in a progressive loss of bone tissue. How a shortage of matrix metallopeptidase 2 leads to the other features of MONA, such as subcutaneous nodules and skin abnormalities, is unknown.
Question: What is (are) Primary Hyperparathyroidism ?

Answer: The parathyroid glands are four pea-sized glands located on or near the thyroid gland in the neck. Occasionally, a person is born with one or more of the parathyroid glands in another location. For example, a gland may be embedded in the thyroid, in the thymusan immune system organ located in the chestor elsewhere around this area. In most such cases, however, the parathyroid glands function normally.
                
The parathyroid glands are part of the bodys endocrine system. Endocrine glands produce, store, and release hormones, which travel in the bloodstream to target cells elsewhere in the body and direct the cells activity.
                
Though their names are similar, the thyroid and parathyroid glands are entirely different glands, each producing distinct hormones with specific functions. The parathyroid glands produce PTH, a hormone that helps maintain the correct balance of calcium in the body. PTH regulates the level of calcium in the blood, release of calcium from bone, absorption of calcium in the small intestine, and excretion of calcium in the urine.
                
When the level of calcium in the blood falls too low, normal parathyroid glands release just enough PTH to restore the blood calcium level.
Question: What are the symptoms of Parkinson's Disease ?

Answer: Parkinson's belongs to a group of neurological conditions called movement disorders. The four main symptoms of Parkinson's disease are: - tremor, or trembling in hands, arms, legs, jaw, or head  - rigidity, or stiffness of the limbs and trunk  - bradykinesia, or slowness of movement  - postural instability, or impaired balance. tremor, or trembling in hands, arms, legs, jaw, or head rigidity, or stiffness of the limbs and trunk bradykinesia, or slowness of movement postural instability, or impaired balance. Other symptoms include depression, emotional changes, difficulty swallowing, speech changes, urinary problems, sleep problems, and dementia and other cognitive problems. Parkinson's symptoms usually begin gradually and get worse over time. As the symptoms become more severe, people with the disorder may have difficulty walking, talking, or completing other simple tasks. They also experience non-motor, or movement, symptoms including mental and behavioral changes, sleep problems, depression, memory difficulties, and fatigue. Parkinson's disease not only affects the brain, but the entire body. While the brain involvement is responsible for the core features, other affected locations contribute to the complicated picture of Parkinson's.
Question: Who is at risk for Childhood Liver Cancer? ?

Answer: Certain diseases and disorders can increase the risk of childhood liver cancer. Anything that increases your 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 childs doctor if you think your child may be at risk.    Risk factors for hepatoblastoma include the following syndromes or conditions:         -  Aicardi syndrome.    -  Beckwith-Wiedemann syndrome.    -  Familial adenomatous polyposis (FAP).    -  Glycogen storage disease.    - A very low weight at birth.    - Simpson-Golabi-Behmel syndrome.    - Certain genetic changes, such as Trisomy 18.        Risk factors for hepatocellular carcinoma include the following syndromes or conditions:         -  Alagille syndrome.    -  Glycogen storage disease.    -  Hepatitis B virus infection that was passed from mother to child at birth.    -  Progressive familial intrahepatic disease.    -  Tyrosinemia.        Some patients with tyrosinemia or progressive familial intrahepatic disease will have a liver transplant before there are signs or symptoms of cancer.
Question: What is (are) Pulmonary Fibrosis ?

Answer: Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen.    Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis.    Symptoms include       - Shortness of breath    - A dry, hacking cough that doesn't get better    - Fatigue    - Weight loss for no known reason    - Aching muscles and joints    - Clubbing, which is the widening and rounding of the tips of the fingers or toes       Your doctor may use your medical history, imaging tests, a biopsy, and lung function tests to diagnose pulmonary fibrosis. There is no cure. Treatments can help with symptoms and improve your quality of life. They include medicines, oxygen therapy, pulmonary rehabilitation, or a lung transplant.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Hantavirus Infections ?

Answer: Hantavirus pulmonary syndrome (HPS) is a rare but deadly viral infection. It is spread by mice and rats. They shed the virus in their urine, droppings, and saliva. Tiny droplets with the virus can enter the air. People can get the disease if they breathe infected air or come into contact with rodents or their urine or droppings. You cannot catch it from people.    Early symptoms of HPS include       -  Fatigue    -  Fever     -  Muscle aches, especially in the thighs, hips and back    -  Headaches    -  Chills    -  Dizziness    -  Nausea, vomiting, diarrhea or abdominal pain       Later symptoms include coughing and shortness of breath.     Controlling rodents in and around your house is the best way to prevent infection. If you have been around rodents and have symptoms of fever, deep muscle aches, and severe shortness of breath, see your doctor immediately.    There is no specific treatment, cure, or vaccine for HPS. Patients may do better if it is recognized early and they get medical care in an intensive care unit. They often need to use a breathing machine and have oxygen therapy.    Centers for Disease Control and Prevention
Question: What is (are) Prediabetes ?

Answer: Prediabetes means you have blood glucose, or blood sugar, levels that are higher than normal but not high enough to be called diabetes. Glucose comes from the foods you eat. Too much glucose in your blood can damage your body over time. If you have prediabetes, you are more likely to develop type 2 diabetes, heart disease, and stroke.    Most people with prediabetes don't have any symptoms. Your doctor can use an A1C test or another blood test to find out if your blood glucose levels are higher than normal. If you are 45 years old or older, your doctor may recommend that you be tested for prediabetes, especially if you are overweight.    Losing weight - at least 5 to 10 percent of your starting weight - can prevent or delay diabetes or even reverse prediabetes. That's 10 to 20 pounds for someone who weighs 200 pounds. You can lose weight by cutting down on the amount of calories and fat you eat and being physically active at least 30 minutes a day. Being physically active makes your body's insulin work better. Your doctor may also prescribe medicine to help control the amount of glucose in your blood.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Colorectal Cancer ?

Answer: The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke.    Symptoms of colorectal cancer include       - Diarrhea or constipation    - A feeling that your bowel does not empty completely    - Blood (either bright red or very dark) in your stool    - Stools that are narrower than usual    - Frequent gas pains or cramps, or feeling full or bloated    - Weight loss with no known reason    - Fatigue    - Nausea or vomiting       Because you may not have symptoms at first, it's important to have screening tests. Everyone over 50 should get screened. Tests include colonoscopy and tests for blood in the stool. Treatments for colorectal cancer include surgery, chemotherapy, radiation, or a combination. Surgery can usually cure it when it is found early.    NIH: National Cancer Institute
Question: Do you have information about Blood

Answer: Summary : Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts, and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells, and platelets.    Red blood cells (RBC) deliver oxygen from your lungs to your tissues and organs. White blood cells (WBC) fight infection and are part of your body's defense system. Platelets help blood to clot when you have a cut or wound. Bone marrow, the spongy material inside your bones, makes new blood cells. Blood cells constantly die and your body makes new ones. Red blood cells live about 120 days, and platelets live about 6 days. Some white blood cells live less than a day, but others live much longer.    Blood tests show whether the levels of substances in your blood are within a normal range. They help doctors check for certain diseases and conditions. They also help check the function of your organs and show how well treatments are working.Some of the most common blood tests are blood count tests, which measure the number, size, and shape of cells and platelets in the blood.    Problems with your blood may include bleeding disorders, excessive clotting and platelet disorders. If you lose too much blood, you may need a transfusion.
Question: What is (are) Voice Disorders ?

Answer: Voice is the sound made by air passing from your lungs through your larynx, or voice box. In your larynx are your vocal cords, two bands of muscle that vibrate to make sound. For most of us, our voices play a big part in who we are, what we do, and how we communicate. Like fingerprints, each person's voice is unique.    Many things we do can injure our vocal cords. Talking too much, screaming, constantly clearing your throat, or smoking can make you hoarse. They can also lead to problems such as nodules, polyps, and sores on the vocal cords. Other causes of voice disorders include infections, upward movement of stomach acids into the throat, growths due to a virus, cancer, and diseases that paralyze the vocal cords.    Signs that your voice isn't healthy include       - Your voice has become hoarse or raspy    - You've lost the ability to hit some high notes when singing    - Your voice suddenly sounds deeper    - Your throat often feels raw, achy, or strained    - It's become an effort to talk       Treatment for voice disorders varies depending on the cause. Most voice problems can be successfully treated when diagnosed early.    NIH: National Institute on Deafness and Other Communication Disorders