deep-div/medical_qa_mediqa huggingface dataset:
Question: abetalipoproteimemia hi, I would like to know if there is any support for those suffering with abetalipoproteinemia? I am not diagnosed but have had many test that indicate I am suffering with this, keen to learn how to get it diagnosed and how to manage, many thanks

Reference:
Bassen-Kornzweig syndrome (Exams and Tests): There may be damage to the retina of the eye (retinitis pigmentosa).   Tests that may be done to help diagnose this condition include:     - Apolipoprotein B blood test   - Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K)   - "Burr-cell" malformation of the red cells (acanthocytosis)   - Complete blood count (CBC)   - Cholesterol studies   - Electromyography   - Eye exam   - Nerve conduction velocity   - Stool sample analysis      Genetic testing may be available for mutations in the MTP gene.

Answer: Abetalipoproteimemia, also known as Bassen-Kornzweig syndrome, is diagnosed using blood tests for Apolipoprotein B, vitamin deficiencies, malformation of red blood cels, complete blood count and cholesterol. Other tests include  electromyography, eye exams, nerve conduction velocity, stool sample analysis, and  genetic testing  for mutations in the MTP gene.
Question: about thalassemia treatment sir,my friend is suffering from thalassemia ,in that majorly red blood anemia,white blood anemia and the blood is comming out from mouth when she got cough .her condition is very severe .in her body the red ,white blood cells are abscent .so that blood transfusion is doing for every 16-20days.then in the recent days the blood also comming out from mouth please tell me where can i get the treatment for this disease .we can travel around the world for treatment please reply me as soon as possible. thank you sir.

Reference:
Sickle beta thalassemia (Treatment): Treatment for sickle beta thalassemia is supportive and usually depends on the signs and symptoms present in each person. It is generally recommended that all affected people drink plenty of water; avoid climate extremes, activities that lead to inflammation and extreme fatigue; and stay up-to-date on all immunizations. Because sickle beta thalassemia is associated with a variety of health problems, affected people are usually followed closely by their healthcare provider with regular physical examinations that may include specialized laboratory tests and imaging studies (i.e. chest X-ray, transcranial doppler ultrasound, ECG). Blood transfusions may be prescribed on a regular basis for affected people with a history of or risk factors for stroke and other specific health problems, such as pulmonary hypertension. Hydroxyurea, a drug approved by the U.S. Food and Drug Administration for the treatment of sickle cell disease, can decrease the frequency and severity of pain episodes; reduce the need of blood transfusions; and increase life span. [1] [3] For more information regarding the treatment of sickle beta thalassemia and other sickle cell diseases, please click here.

Answer: Treatment for sickle beta thalassemia  may include  regular blood transfusions for people at risk for stroke and other specific health problems, such as pulmonary hypertension. Hydroxyurea, a drug approved by the U.S. Food and Drug Administration for the treatment of sickle cell disease, can decrease the frequency and severity of pain episodes; reduce the need of blood transfusions; and increase life span.
Question: about thalassemia treatment sir,my friend is suffering from thalassemia ,in that majorly red blood anemia,white blood anemia and the blood is comming out from mouth when she got cough .her condition is very severe .in her body the red ,white blood cells are abscent .so that blood transfusion is doing for every 16-20days.then in the recent days the blood also comming out from mouth please tell me where can i get the treatment for this disease .we can travel around the world for treatment please reply me as soon as possible. thank you sir.

Reference:
Thalassemia (Treatment): Treatment for thalassemia depends on which type you have and how severe it is. Treatments for mild thalassemia Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed. Occasionally, you may need a blood transfusion, particularly after surgery, after having a baby or to help manage thalassemia complications. People with severe beta-thalassemia will need blood transfusions. And because this treatment can cause iron overload, they will also need treatment to remove excess iron. An oral medication called deferasirox (Exjade, Jadenu) can help remove the excess iron. Treatments for moderate to severe thalassemia Treatments for moderate to severe thalassemia may include: - Frequent blood transfusions. More-severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs. To help your body get rid of the extra iron, you may need to take medications that rid your body of extra iron. - Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant may be an option in select cases, including children born with severe thalassemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload. During this procedure, you receive infusions of stem cells from a compatible donor, usually a sibling.

Answer: People with severe beta-thalassemia  need frequent blood transfusions, which can cause iron overload, Excess iron could be removed using oral medication called deferasirox (Exjade, Jadenu.)   In some cases, stem cell transplant (bone marrow transplant) can eliminate the need for lifelong blood transfusions and drugs to control iron overload. During this procedure, patients receive infusions of stem cells from a compatible donor, usually a sibling.
Question: Achondroplasia research.    Hello, We are students from  and we are doing a biology project of genetic diseases. We chose Achondroplasia as our disease to research. We have a few question and we are hoping you could answer them. Our questions are, can you tell if your child will have Achondroplasia when you are pregnant? When do people usually come in when they think something isn't right with their child? what are the worse cases of Achondroplasia you've ever seen? Thank you in advance.   sincerely,

Reference:
Achondroplasia (Causes): Achondroplasia is one of a group of disorders called chondrodystrophies, or osteochondrodysplasias.   Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from 1 parent, the child will have the disorder. If 1 parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.   However, most cases appear as spontaneous mutations. This means that 2 parents without achondroplasia may give birth to a baby with the condition.

Answer: Achondroplasia may be inherited, but most cases are spontaneous mutations in a baby of  two parents without the condition.If a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting it, if both parents have the condition, the chances increase to 75%.
Question: Achondroplasia research.    Hello, We are students from  and we are doing a biology project of genetic diseases. We chose Achondroplasia as our disease to research. We have a few question and we are hoping you could answer them. Our questions are, can you tell if your child will have Achondroplasia when you are pregnant? When do people usually come in when they think something isn't right with their child? what are the worse cases of Achondroplasia you've ever seen? Thank you in advance.   sincerely,

Reference:
Achondroplasia (Prevention): Genetic counseling may be helpful for prospective parents when 1 or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

Answer: Parents with achondroplasia may be helped by genetic counseling, but it does not help to prevent spontaneous mutations.
Question: Achondroplasia research.    Hello, We are students from  and we are doing a biology project of genetic diseases. We chose Achondroplasia as our disease to research. We have a few question and we are hoping you could answer them. Our questions are, can you tell if your child will have Achondroplasia when you are pregnant? When do people usually come in when they think something isn't right with their child? what are the worse cases of Achondroplasia you've ever seen? Thank you in advance.   sincerely,

Reference:
Achondroplasia (When to Contact a Medical Professional): If there is a family history of achondroplasia and you plan to have children, you may find it helpful to speak to your health care provider.

Answer: People with a family history of achondroplasia should  talk to a health care provider if they plan to have children.
Question: Achondroplasia research.    Hello, We are students from  and we are doing a biology project of genetic diseases. We chose Achondroplasia as our disease to research. We have a few question and we are hoping you could answer them. Our questions are, can you tell if your child will have Achondroplasia when you are pregnant? When do people usually come in when they think something isn't right with their child? what are the worse cases of Achondroplasia you've ever seen? Thank you in advance.   sincerely,

Reference:
Achondroplasia (Outlook (Prognosis)): People with achondroplasia seldom reach 5 feet (1.5 meters) in height. Intelligence is in the normal range. Infants who receive the abnormal gene from both parents do not often live beyond a few months.

Answer: Children who inherit  achondroplasia from both parents usually live only few months. Other people with achondroplasia may grow to be 5 feet tall and their intelligence is usually normal.
Question: adrenoleukodystrophy A child I have been asked to work with has been diagnosed with this condition.I am so far unable to find info pertaining to this illness. Can you help??

Reference:
What is Adrenoleukodystrophy?: X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected. People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35. Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD. X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.

Answer: Adrenoleukodystrophy is a genetic disorder that causes damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia.
Question: adrenoleukodystrophy A child I have been asked to work with has been diagnosed with this condition.I am so far unable to find info pertaining to this illness. Can you help??

Reference:
What is Adrenoleukodystrophy?: Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families.

Answer: Adrenoleukodystrophy is a family of hereditary disorders that disrupt the breakdown of certain fats.
Question: adrenoleukodystrophy A child I have been asked to work with has been diagnosed with this condition.I am so far unable to find info pertaining to this illness. Can you help??

Reference:
X-linked adrenoleukodystrophy (Summary): X-linked adrenoleukodystrophy (X-ALD) is an inherited  condition that occurs mostly in males.  The condition mainly affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disorder often have progressive destruction of the fatty covering ( myelin ) that insulates nerves in the brain and spinal cord. They may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex), called adrenocortical insufficiency.  X-ALD is caused by mutations in the  gene . These gene mutations cause a shortage (deficiency) of a protein  called adrenoleukodystrophy protein (ALDP).  A deficiency of this protein leads to an abnormally high level of fat molecules called very long-chain fatty acids (VLCFA) to build up in the body.  High levels of VLCFA may be toxic to the adrenal cortex and myelin.   There are several forms of X-ALD including: a childhood cerebral form, an adrenomyeloneuropathy (AMN) type, and an adrenal insufficiency-only type. Another form of ALD is occasionally seen in women who are carriers of the condition [1] A specific treatment for X-ALD is not currently available, but eating a diet low in VLCFA and taking special oils can lower the blood levels of VLCFA.  Bone marrow transplantation (BMT) may be an option for boys and adolescents in early stages who have evidence of brain involvement on MRI . [2]  Adrenocortical insufficiency is treated with cortisone replacement.

Answer: X-linked adrenoleukodystrophy (X-ALD) is an inherited  condition that occurs mostly in males, and  affects the nervous system and the adrenal glands  located on top of each kidney.   Treatments for X-ALD are not currently available. ,Eating a diet low in very long-chain fatty acids (VLCFA) and taking special oils can lower the blood levels of VLCFA, which might reduce damage to the adrenal cortex and myelin.  Bone marrow transplantation (BMT) may be an option for boys and adolescents in early stages who have evidence of brain involvement on MRI .  Adrenocortical insufficiency is treated with cortisone replacement.
Question: Anal Fissure I may have a couple anal fissures and looking to speak with someone to get some information and support.

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Anal fissure (Symptoms): Signs and symptoms of an anal fissure include: - Pain, sometimes severe, during bowel movements   - Pain after bowel movements that can last up to several hours   - Bright red blood on the stool or toilet paper after a bowel movement   - Itching or irritation around the anus   - A visible crack in the skin around the anus   - A small lump or skin tag on the skin near the anal fissure When to see a doctor See your doctor if you have pain during bowel movements or notice blood on stools or toilet paper after a bowel movement.

Answer: Anal fissures can cause: pain during and after bowel movements; bright red blood om stools or toilet paper; itching, irritation, visible cracks in the skin, and lumps or tags around the anus.
Question: Anal Fissure I may have a couple anal fissures and looking to speak with someone to get some information and support.

Reference:
Anal fissure (Lifestyle and home remedies): Several lifestyle changes may help relieve discomfort and promote healing of an anal fissure, as well as prevent recurrences: - Add fiber to your diet. Eating about 25 to 30 grams of fiber a day can help keep stools soft and improve fissure healing. Fiber-rich foods include fruits, vegetables, nuts and whole grains. You also can take a fiber supplement. Adding fiber may cause gas and bloating, so increase your intake gradually. - Drink adequate fluids. Fluids help prevent constipation. - Exercise regularly. Engage in 30 minutes or more of moderate physical activity, such as walking, most days of the week. Exercise promotes regular bowel movements and increases blood flow to all parts of your body, which may promote healing of an anal fissure. - Avoid straining during bowel movements. Straining creates pressure, which can open a healing tear or cause a new tear. If your infant has an anal fissure, be sure to change diapers frequently, wash the area gently and discuss the problem with your child's doctor.

Answer: Lifestyle changes that prevent constipation and soften stools may promote healing of an anal fissure. These changes include:  gradually adding up to 25-30 grams of fiber, such as fruits, vegetables, nuts and whole grains  to your diet; drinking sufficient amount of fluids; regular moderate exercise, such as walking. Additionally, avoid straining during bowel movements.
Question: Anal Fissure I may have a couple anal fissures and looking to speak with someone to get some information and support.

Reference:
Anal fissure (Complications): Complications of anal fissure can include: - Failure to heal. An anal fissure that fails to heal within six weeks is considered chronic and may need further treatment.   - Recurrence. Once you've experienced an anal fissure, you are prone to having another one.   - A tear that extends to surrounding muscles. An anal fissure may extend into the ring of muscle that holds your anus closed (internal anal sphincter), making it more difficult for your anal fissure to heal. An unhealed fissure can trigger a cycle of discomfort that may require medications or surgery to reduce the pain and to repair or remove the fissure.

Answer: Anal fissures may fail to heal, recur after healing and cause other complications, such as tears extending into the anal sphincter muscles. Fissures that fail to heal within six week may require medications to relieve symptoms or surgery to repair the leasions.
Question: Anal Fissure I may have a couple anal fissures and looking to speak with someone to get some information and support.

Reference:
Anal fissure (Treatment): Anal fissures often heal within a few weeks if you take steps to keep your stool soft, such as increasing your intake of fiber and fluids. Soaking in warm water for 10 to 20 minutes several times a day, especially after bowel movements, can help relax the sphincter and promote healing. If your symptoms persist, you'll likely need further treatment. Nonsurgical treatments Your doctor may recommend: - Externally applied nitroglycerin (Rectiv), to help increase blood flow to the fissure and promote healing and to help relax the anal sphincter. Nitroglycerin is generally considered the medical treatment of choice when other conservative measures fail. Side effects may include headache, which can be severe. - Topical anesthetic creams such as lidocaine hydrochloride (Xylocaine) may be helpful for pain relief. - Botulinum toxin type A (Botox) injection, to paralyze the anal sphincter muscle and relax spasms. - Blood pressure medications, such as oral nifedipine (Procardia) or diltiazem (Cardizem) can help relax the anal sphincter. These medications may be taken by mouth or applied externally and may be used when nitroglycerin is not effective or causes significant side effects. Surgery If you have a chronic anal fissure that is resistant to other treatments, or if your symptoms are severe, your doctor may recommend surgery. Doctors usually perform a procedure called lateral internal sphincterotomy (LIS), which involves cutting a small portion of the anal sphincter muscle to reduce spasm and pain, and promote healing. Studies have found that for chronic fissure, surgery is much more effective than any medical treatment. However, surgery has a small risk of causing incontinence.

Answer: Anal fissures are likely to heal within weeks if you keep your stool soft, e.g., by increasing fiber and fluids in your diet, and relax the sphincter by soaking in warm water for 10-20 minutes after bowel movements. If the fissures persist, your doctor may recommend medications to relax the sphincter, such as nitroglycerin applied externally (Rectiv), Botulinum toxin type A (Botox) injection, or oral blood pressure medications, such as nifedipine (Procardia) or diltiazem (Cardizem) . Topical anesthetics, e.g.,  lidocaine hydrochloride (Xylocaine) may relieve pain. For chronic fissures, surgery might be more effective. The procedure called lateral internal sphincterotomy (LIS) involves cutting a small portion of the anal sphincter muscle to reduce spasm and pain, and promote healing.
Question: Anal Fissure I may have a couple anal fissures and looking to speak with someone to get some information and support.

Reference:
Anal fissure (Risk factors): Factors that may increase your risk of developing an anal fissure include: - Infancy. Many infants experience an anal fissure during their first year of life; experts aren't sure why.   - Aging. Older adults may develop an anal fissure partly due to slowed circulation, resulting in decreased blood flow to the rectal area.   - Constipation. Straining during bowel movements and passing hard stools increase the risk of tearing.   - Childbirth. Anal fissures are more common in women after they give birth.   - Crohn's disease. This inflammatory bowel disease causes chronic inflammation of the intestinal tract, which may make the lining of the anal canal more vulnerable to tearing.   - Anal intercourse.

Answer: Several factors increase the risk of developing an anal feature: decreased blood flow to the rectal area due to aging; straining during bowel movements, e.g., due to constipation; chronic inflammation of the intestinal tract; and anal intercourse.