deep-div/medical_qa_mediqa huggingface dataset:
Question: My daughter has menkes syndrome and would like to know how to go about. Thx

Reference:
Menkes syndrome (Symptoms): Symptoms of Menkes syndrome are:     - Bone spurs   - Brittle, kinky hair   - Feeding difficulties   - Irritability   - Lack of muscle tone, floppiness   - Low body temperature   - Mental deterioration   - Pudgy, rosy cheeks   - Seizures   - Skeletal changes

Answer: Symptoms of Menkes syndrome include bone spurs, brittle kinky hair, feeding difficulties, irritability, lack of muscle tone, floppiness, low body temperature, mental deterioration, pudgy rosy cheeks, seizures, and skeletal changes.
Question: My daughter has menkes syndrome and would like to know how to go about. Thx

Reference:
What is Menkes syndrome?: In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism."

Answer: In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it.
Question: My daughter has menkes syndrome and would like to know how to go about. Thx

Reference:
ATP7A gene (Menkes syndrome): Researchers have identified more than 150 mutations in the ATP7A gene that cause Menkes syndrome. Many of these mutations delete part of the gene and likely result in a shortened ATP7A protein. Other mutations insert additional DNA building blocks (nucleotides) into the gene or change single nucleotides. All of these mutations prevent the production of functional ATP7A protein. As a result, the absorption of copper from food is impaired, and copper is not supplied to certain enzymes. The abnormal protein may get stuck in the cell membrane and become unable to shuttle back and forth from the Golgi apparatus.   The disrupted activity of the ATP7A protein causes copper to be poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes, affecting the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome are caused by the reduced activity of these copper-containing enzymes.

Answer: Mutations in the ATP7A gene cause Menkes syndrome. These mutations prevent the production of functional ATP7A protein. As a result, the absorption of copper from food is impaired, and copper is not supplied to certain enzymes. The disrupted activity of the ATP7A protein causes copper to accumulate in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes, affecting the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome are caused by the reduced activity of these copper-containing enzymes.
Question: Please let me know where I can get literature on Cardiac amyloidosis.  My uncle died yesterday from this disorder.  Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.

Reference:
Cardiac amyloidosis (Treatment): Your health care provider may tell you to make changes to your diet, including limiting salt and fluids.    You may need to take water pills (diuretics) to help your body get rid of excess fluid. The provider may tell you to weigh yourself every day. A weight gain of 3 or more pounds (1 kilogram or more) over 1 to 2 days can mean there is too much fluid in the body.   Medicines including digoxin, calcium-channel blockers, and beta-blockers may be used in people with atrial fibrillation. However, the drugs must be used with caution, and the dosage must be carefully monitored. People with cardiac amyloidosis may be extra sensitive to side effects of these drugs.   Other treatments may include:     - Chemotherapy   - Implantable cardioverter-defibrillator (AICD)   - Pacemaker, if there are problems with heart signals   - Prednisone, an anti-inflammatory medicine     A heart transplant may be considered for people with some types of amyloidosis who have very poor heart function. People with hereditary amyloidosis may need a liver transplant.

Answer: To treat cardiac amyloidosis you may need to make changes to your diet, including limiting salt and fluids, and take water pills (diuretics). People with cardiac amyloidosis may be extra sensitive to side effects of  digoxin, calcium-channel blockers, and beta-blockers that may be used for atrial fibrillation. Your doctor  may recommend chemotherapy, implantable cardioverter-defibrillator (AICD), a pacemaker for problems with heart signals, and prednisone, an anti-inflammatory medicine. A heart transplant may be considered for people with some types of amyloidosis who have very poor heart function. People with hereditary amyloidosis may need a liver transplant.
Question: Please let me know where I can get literature on Cardiac amyloidosis.  My uncle died yesterday from this disorder.  Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.

Reference:
Cardiac amyloidosis (Symptoms): Some people may have no symptoms. When present, symptoms may include:     -  Excessive urination at night    -  Fatigue, reduced exercise ability   -  Palpitations (sensation of feeling heartbeat)   -  Shortness of breath with activity   -  Swelling of the abdomen, legs, ankles, or other part of the body   -  Trouble breathing while lying down

Answer: Some people with cardiac amyloidosis may have no symptoms. Others may experience excessive urination at night, fatigue, reduced exercise ability, heart palpitations, shortness of breath with activity or lying down, swelling of the abdomen, legs, ankles, or other part of the body.
Question: Please let me know where I can get literature on Cardiac amyloidosis.  My uncle died yesterday from this disorder.  Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.

Reference:
Cardiac amyloidosis (Summary): Cardiac amyloidosis is a disorder caused by deposits of an abnormal protein (amyloid) in the heart tissue. These deposits make it hard for the heart to work properly.

Answer: Cardiac amyloidosis is a disorder caused by deposits of an abnormal protein (amyloid) in the heart tissue. These deposits make it hard for the heart to work properly.
Question: Please let me know where I can get literature on Cardiac amyloidosis.  My uncle died yesterday from this disorder.  Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.

Reference:
What are the complications of Cardiac amyloidosis?: - Atrial fibrillation or ventricular arrhythmias  - Congestive heart failure  - Fluid buildup in the abdomen (ascites)  - Increased sensitivity to digoxin   - Low blood pressure and dizziness from excessive urination (due to medication)   - Sick sinus syndrome  - Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle)

Answer: The complications of cardiac amyloidosis include atrial fibrillation or ventricular arrhythmias, congestive heart failure, fluid buildup in the abdomen (ascites), increased sensitivity to digoxin, low blood pressure and dizziness from excessive urination, sick sinus syndrome, and cardiac conduction system disease (arrhythmias)
Question: Please let me know where I can get literature on Cardiac amyloidosis.  My uncle died yesterday from this disorder.  Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.

Reference:
Cardiac amyloidosis (Outlook (Prognosis)): In the past, cardiac amyloidosis was thought to be an untreatable and rapidly fatal disease. However, the field is changing rapidly. Different types of amyloidosis can affect the heart in different ways. Some types are more severe than others. Many people can now expect to survive and experience a good quality of life for several years after diagnosis.

Answer: Different types of amyloidosis can affect the heart in different ways. Some types are more severe than others. Many people can now expect to survive and experience a good quality of life for several years after diagnosis.
Question: Please let me know where I can get literature on Cardiac amyloidosis.  My uncle died yesterday from this disorder.  Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.

Reference:
Cardiac amyloidosis (Causes): Amyloidosis is a group of diseases in which clumps of proteins called amyloids build up in body tissues. Over time, these proteins replace normal tissue, leading to failure of the involved organ. There are many forms of amyloidosis.   Cardiac amyloidosis ("stiff heart syndrome") occurs when amyloid deposits take the place of normal heart muscle. It is the most typical type of restrictive cardiomyopathy. Cardiac amyloidosis may affect the way electrical signals move through the heart (conduction system). This can lead to abnormal heartbeats (arrhythmias) and faulty heart signals (heart block).   The condition can be inherited. This is called familial cardiac amyloidosis. It can also develop as the result of another disease such as a type of bone and blood cancer, or as the result of another medical problem causing inflammation. Cardiac amyloidosis is more common in men than in women. The disease is rare in people under age 40.

Answer: Cardiac amyloidosis ("stiff heart syndrome") occurs when clumps of proteins called amyloids build up in the heart muscle and replace the normal tissues. Cardiac amyloidosis is more common in men and occurs mostly after 40.  Cardiac amyloidosis affects the way electrical signals move through the heart, which can lead to abnormal heartbeats (arrhythmias) and faulty heart signals (heart block). The condition can be inherited. This is called familial cardiac amyloidosis. It can also develop as the result of another disease such as a type of bone and blood cancer, or as the result of inflammation.
Question: milroy disease hello , my daughter has lymph edema her both legs and left hand is swelling , this problem started when she was of 3 months now she is  16 months , her swelling is growing day by day , im clue less what to do and what kind of treatment i should do plz help and suggest us

Reference:
Milroy disease (Treatment): There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. [3] Management of lymphedema should be guided by a lymphedema therapist. Some improvement is usually possible with the use of properly fitted compression hosiery or bandaging and well fitting, supportive shoes. Good skin care is essential. These measures may improve the cosmetic appearance of the affected areas, decrease their size, and reduce the risk of complications. [2] Decongestive physiotherapy , which combines compression bandaging, manual lymphatic drainage (a specialized massage technique), exercise, breathing exercises, dietary measures and skin care, has become the standard of care for primary lymphedema. [3] People with recurrent cellulitis may benefit from prophylactic antibiotics . [2] [3] Surgical intervention is considered a last option when other medical management fails. [3] When possible, people with Milroy disease should avoid: wounds to swollen areas (because of their reduced resistance to infection) long periods of immobility prolonged standing elevation of the affected limb certain medications (particularly calcium channel-blocking drugs that can cause increased leg swelling in some people)[2] Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Answer: There is currently no cure for Milroy disease. Conservative management is usually successful in most people. Management of lymphedema should be guided by a lymphedema therapist. Some improvement is possible with the use of properly fitted compression hosiery or bandaging and well fitting, supportive shoes. Good skin care is essential. Decongestive physiotherapy, which combines compression bandaging, manual lymphatic drainage (a specialized massage technique), exercise, breathing exercises, dietary measures and skin care, is the standard of care for primary lymphedema.  People with recurrent cellulitis may benefit from prophylactic antibiotics  Surgical intervention is considered a last option when other medical management fails.  When possible, people with Milroy disease should avoid wounds to swollen areas (because of their reduced resistance to infection,) long periods of immobility, prolonged standing, elevation of the affected limb, and calcium channel-blocking drugs that can cause increased leg swelling in some people.
Question: milroy disease hello , my daughter has lymph edema her both legs and left hand is swelling , this problem started when she was of 3 months now she is  16 months , her swelling is growing day by day , im clue less what to do and what kind of treatment i should do plz help and suggest us

Reference:
Milroy disease (Prognosis): The symptoms and severity of Milroy disease can vary among affected people (even within the same family), so the long-term effects of the condition may be difficult to predict. [2] Swelling varies in degree and distribution, and can be disabling and disfiguring. [3] For some people the outlook depends on how chronic the lymphedema is, as well as whether complications arise. [4] However, Milroy disease is rarely associated with significant complications. [3] The degree of edema sometimes progresses, but in some cases can improve (particularly in early years). [2] Complications of lymphedema may include recurrent bouts of cellulitis and/or lymphangitis, bacterial and fungal infections, deep venous thrombosis, functional impairment, cosmetic embarrassment, and amputation. Complications following surgery are common. [4] It has also been reported that people with chronic lymphedema for many years may have a significantly higher risk to develop lymphangiosarcoma (a type of angiosarcoma). This type of tumor is highly aggressive and has a very poor prognosis . [4]

Answer: The symptoms and severity of Milroy disease can vary among affected people, however, it rarely causes significant complications. . Swelling can be disabling and disfiguring, it sometimes progresses, but in some cases can improve (particularly in early years).  Complications of lymphedema include recurrent bouts of cellulitis and/or lymphangitis, bacterial and fungal infections, deep venous thrombosis, functional impairment, cosmetic embarrassment, and amputation. Complications following surgery are common.
Question: more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks

Reference:
Ellis-van Creveld syndrome (Treatment): Treatment depends on which body system is affected and the severity of the problem. The condition itself is not treatable, but many of the complications can be treated.

Answer: There is no cure for Ellis-van Creveld syndrome. The treatments for complications  depend on which body system is affected and the severity of the problem.
Question: more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks

Reference:
Ellis-van Creveld syndrome (Description): Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.   The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.

Answer: Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.
Question: What is Nephrotic Syndrome.  What are its causes and cures?

Reference:
Nephrotic syndrome (Treatment): The goals of treatment are to relieve symptoms, prevent complications, and delay kidney damage. To control nephrotic syndrome, the disorder that is causing it must be treated. You may need treatment for life.   Treatments may include any of the following:     - Keeping blood pressure at or below 130/80 mm Hg to delay kidney damage. Angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) are the medicines most often used. ACE inhibitors and ARBs may also help decrease the amount of protein lost in the urine.   - Corticosteroids and other drugs that suppress or quiet the immune system.   - Treating high cholesterol to reduce the risk of heart and blood vessel problems. A low-fat, low-cholesterol diet is usually not enough for people with nephrotic syndrome. Medicines to reduce cholesterol and triglycerides (usually statins) may be needed.   - A low-salt diet may help with swelling in the hands and legs. Water pills (diuretics) may also help with this problem.   - Low-protein diets may be helpful. Your health care provider may suggest a moderate-protein diet (1 gram [gm] of protein per kilogram [kg] of body weight per day).   - Taking vitamin D supplements if nephrotic syndrome is long-term and is not responding to treatment.   - Taking blood thinner drugs to treat or prevent blood clots.

Answer: To control nephrotic syndrome, the disorder that is causing it must be treated. Potentially life=long treatments may be needed to keep blood pressure at or below 130/80 mm Hg to delay kidney damage, most often using angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs). ACE inhibitors and ARBs may also help decrease the amount of protein lost in the urine. To reduce the immune system response, corticosteroids and other  suppressants could be used. To reduce the risk of heart and blood vessel problems, high cholesterol needs to be reduced and blood thinners might be prescribed. A low-fat, low-cholesterol, low-protein diet may need to be supplemented with statins. To reduce  swelling in the hands and legs, you may need a low-salt diet  and diuretics.
Question: What is Nephrotic Syndrome.  What are its causes and cures?

Reference:
What causes Nephrotic syndrome?: Nephrotic syndrome is caused by different disorders that damage the kidneys. This damage leads to the release of too much protein in the urine.  The most common cause in children is minimal change disease. Membranous glomerulonephritis is the most common cause in adults.In both diseases, the glomeruli in the kidneys are damaged. Glomeruli are the structures that help filter wastes and fluids.  This condition can also occur from:  - Cancer  - Diseases such as diabetes, systemic lupus erythematosus, multiple myeloma, and amyloidosis  - Genetic disorders  - Immune disorders  - Infections (such as strep throat, hepatitis, or mononucleosis)  - Use of certain drugs   It can occur with kidney disorders such as:  - Focal and segmental glomerulosclerosis  - Glomerulonephritis  - Mesangiocapillary glomerulonephritis   Nephrotic syndrome can affect all age groups. In children, it is most common between ages 2 and 6. This disorder occurs slightly more often in males than females.

Answer: Nephrotic syndrome is caused by different disorders that damage the kidneys., in adults, most commonly by glomerulonephritis.  This damage leads to the release of too much protein in the urine. Other conditions that damage kidneys include cancer, diabetes, systemic lupus erythematosus, multiple myeloma, amyloidosis, immune disorders, and infections. Nephrotic syndrome can affect all age groups. In children, it is most common between ages 2 and 6. This disorder occurs slightly more often in males than females.