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<s>[INST] 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... |
<s>[INST] Bassen-Kornzweig syndrome: Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through the intestines. Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with pr... |
<s>[INST] Abetalipoproteinemia: Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. [1] Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other... |
<s>[INST] abetalipoproteinemia: Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) ... |
<s>[INST] 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 fa... |
<s>[INST] 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... |
<s>[INST] Absence seizure: An absence seizure is the term for a type of seizure involving staring spells. This type of seizure is a brief (usually less than 15 seconds) disturbance of brain function due to abnormal electrical activity in the brain. Absence seizures occur most often in people under age 20, usually in ch... |
<s>[INST] Absence seizure: Absence seizures involve brief, sudden lapses of consciousness. They're more common in children than in adults. Someone having an absence seizure may look like he or she is staring blankly into space for a few seconds. Then, there is a quick return to a normal level of alertness. This type of... |
<s>[INST] Epilepsy juvenile absence: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1941 Disease definition Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic oc... |
<s>[INST] 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 ac... |
<s>[INST] 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. [/INST] Parents with achondroplasia may be helped by genetic counseling, but it does ... |
<s>[INST] 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. [/INST] People with a family history of achondroplasia should talk to a health care provider if they plan to ha... |
<s>[INST] 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. [/INST] Children who inherit achondroplasia from both parents usuall... |
<s>[INST] 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 si... |
<s>[INST] What is Adrenoleukodystrophy?: Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families. [/INST] Adrenoleukodystrophy is a family of hereditary disorders that disrupt the breakdown of certain fats. </s> |
<s>[INST] Adrenoleukodystrophy: Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families. Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males, al... |
<s>[INST] 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 destruct... |
<s>[INST] 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 vis... |
<s>[INST] 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... |
<s>[INST] 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 ex... |
<s>[INST] 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 healin... |
<s>[INST] 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 i... |
<s>[INST] Anal fissure (Diagnosis): If possible, your doctor will perform a digital rectal exam, which involves inserting a gloved finger into your anal canal, or use a short, lighted tube (anoscope) to inspect your anal canal. However, if this is too painful for you, your doctor may be able to diagnose an anal fissure... |
<s>[INST] Anal fissure: An anal fissure is a small tear in the thin, moist tissue (mucosa) that lines the anus. An anal fissure may occur when you pass hard or large stools during a bowel movement. Anal fissures typically cause pain and bleeding with bowel movements. You also may experience spasms in the ring of muscle... |
<s>[INST] Anal fissure (Causes): Common causes of anal fissure include: - Passing large or hard stools - Constipation and straining during bowel movements - Chronic diarrhea - Inflammation of the anorectal area, caused by Crohn's disease or another inflammatory bowel disease - Childbirth Less common causes of a... |
<s>[INST] Angelman syndrome: Angelman syndrome is a genetic disorder. It causes developmental disabilities, neurological problems and sometimes, seizures. People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities. Developmental delays, between about 6 and 12 months of age, ... |
<s>[INST] Is Angelman syndrome inherited?: Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embr... |
<s>[INST] Angelman syndrome (Risk factors): Angelman syndrome is rare. Researchers usually don't know what causes the genetic changes that result in Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease. Occasionally, Angelman syndrome may be inherited from a parent. A family ... |
<s>[INST] Angelman syndrome: Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also h... |
<s>[INST] Hairy cell leukemia (Treatment): Treatment isn't always necessary for people with hairy cell leukemia. Because this cancer progresses very slowly and sometimes doesn't progress at all, some people prefer to wait to treat their cancer only if it causes signs and symptoms. The majority of people with hairy cell... |
<s>[INST] Asthma (Treatment): The goals of treatment are: - Control airway swelling - Stay away from substances that trigger your symptoms - Help you to be able to do normal activities without asthma symptoms You and your doctor should work as a team to manage your asthma. Follow your doctor's instructions ... |
<s>[INST] Asthma (How is asthma treated?): Asthma is a chronic disease. This means that it can be treated but not cured. However, some people are able to manage asthma so that symptoms do not happen again or happen rarely. You can take steps to control asthma and prevent problems by: [/INST] Asthma symptoms can be man... |
<s>[INST] Asthma (Outlook (Prognosis)): There is no cure for asthma, although symptoms sometimes improve over time. With proper self-management and medical treatment, most people with asthma can lead a normal life. [/INST] Asthma symptoms can be managed but not cured. </s> |
<s>[INST] Asthma (Overview): Asthma is a condition in which your airways narrow and swell and produce extra mucus. This can make breathing difficult and trigger coughing, wheezing and shortness of breath. For some people, asthma is a minor nuisance. For others, it can be a major problem that interferes with daily activ... |
<s>[INST] Breath odor (Causes): Bad breath may be caused by: - Abscessed tooth - Alcoholism - Cavities - Dentures - Eating certain foods, such as cabbage, garlic, or raw onions - Coffee and poorly pH-balanced diet - Object stuck in the nose (usually happens in kids); often a white, yellow, or bloody dis... |
<s>[INST] Breath odor (Home Care): Use proper dental hygiene, especially flossing. Remember that mouthwashes are not effective in treating the underlying problem. Fresh parsley or a strong mint is often an effective way to fight temporary bad breath. Avoid smoking. Otherwise, follow your health care provider's in... |
<s>[INST] What is Bad Breath?: There are many reasons why you might have bad breath. You can get it if you don't brush and floss regularly. Bacteria that build up in your mouth and between your teeth produce the bad odor. Other problems in your mouth, such as gum disease, dry mouth or cavities, may also cause it. Sinus... |
<s>[INST] Bad breath (Treatment): To reduce bad breath, help avoid cavities and lower your risk of gum disease, consistently practice good oral hygiene. Further treatment for bad breath can vary, depending on the cause. If your bad breath is thought to be caused by an underlying health condition, your dentist will like... |
<s>[INST] Generalized anxiety disorder: Generalized anxiety disorder (GAD) is a mental disorder in which a person is often worried or anxious about many things and finds it hard to control this anxiety. The cause of GAD is unknown. Genes may play a role. Stress may also contribute to the development of GAD. GAD is ... |
<s>[INST] Generalized anxiety disorder (Treatment): Treatment decisions are based on how significantly generalized anxiety disorder is affecting your ability to function in your daily life. The two main treatments for generalized anxiety disorder are psychotherapy and medications. You may benefit most from a combinatio... |
<s>[INST] What are the treatments for Generalized anxiety disorder - self-care?: Taking medicine and going to talk therapy can get you started on the road to feeling better. It can also help you take care of your body and relationships. To help improve your condition: - Get enough sleep. - Eat healthy foods. - Keep ... |
<s>[INST] Breast cancer (Treatment): Treatment is based on many factors, including: - Type of breast cancer - Stage of the cancer (staging is a tool your providers use to find out how advanced the cancer is) - Whether the cancer is sensitive to certain hormones - Whether the cancer overproduces (overexpresses... |
<s>[INST] Peripheral neuropathy (Overview): Peripheral neuropathy, a result of damage to your peripheral nerves, often causes weakness, numbness and pain, usually in your hands and feet. It can also affect other areas of your body. Your peripheral nervous system sends information from your brain and spinal cord (centra... |
<s>[INST] Peripheral Neuropathy (Definition): Peripheral neuropathy describes damage to the peripheral nervous system, which transmits information from the brain and spinal cord to every other part of the body. More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of sy... |
<s>[INST] Peripheral neuropathy (Causes): Not a single disease, peripheral neuropathy is nerve damage caused by a number of conditions. Causes of neuropathies include: - Alcoholism. Poor dietary choices made by people with alcoholism can lead to vitamin deficiencies. - Autoimmune diseases. These include Sjogren's syn... |
<s>[INST] Atypical pneumonia (Treatment): To feel better, you can take these self-care measures at home: - Control your fever with aspirin, NSAIDs (such as ibuprofen or naproxen), or acetaminophen. DO NOT give aspirin to children because it may cause a dangerous illness called Reye syndrome. - DO NOT take cough m... |
<s>[INST] Pneumonia (Treatment): Treatment for pneumonia involves curing the infection and preventing complications. People who have community-acquired pneumonia usually can be treated at home with medication. Although most symptoms ease in a few days or weeks, the feeling of tiredness can persist for a month or more. ... |
<s>[INST] Viral pneumonia (Treatment): Antibiotics do not treat this type of lung infection. Medicines that treat viruses may work against some pneumonias caused by influenza and the herpes family of viruses. These medicines may be tried if the infection is caught early. Treatment may also involve: - Corticostero... |
<s>[INST] Fibromyalgia: Fibromyalgia is a disorder characterized by widespread musculoskeletal pain accompanied by fatigue, sleep, memory and mood issues. Researchers believe that fibromyalgia amplifies painful sensations by affecting the way your brain processes pain signals. Symptoms sometimes begin after a physical ... |
<s>[INST] Fibromyalgia (Treatment): In general, treatments for fibromyalgia include both medication and self-care. The emphasis is on minimizing symptoms and improving general health. No one treatment works for all symptoms. Medications Medications can help reduce the pain of fibromyalgia and improve sleep. Common choi... |
<s>[INST] Cervical cancer: Cervical cancer is cancer that starts in the cervix. The cervix is the lower part of the uterus (womb) that opens at the top of the vagina. Worldwide, cervical cancer is the third most common type of cancer in women. It is much less common in the United States because of the routine use of Pa... |
<s>[INST] Cervical cancer (Prevention): Cervical cancer can be prevented by doing the following: - Get the HPV vaccine. The vaccine prevents most types of HPV infection that cause cervical cancer. Your provider can tell you if the vaccine is right for you. - Practice safer sex. Using condoms during sex reduces th... |
<s>[INST] Diabetes type 2 - meal planning (Function): Your main focus is on keeping your blood sugar (glucose) level in your target range. To help manage your blood sugar, follow a meal plan that has: - Food from all the food groups - Fewer calories - About the same amount of carbohydrates at each meal and snac... |
<s>[INST] Diabetes: Diabetes is a chronic disease in which the body cannot regulate the amount of sugar in the blood. Insulin is a hormone produced by the pancreas to control blood sugar. Diabetes can be caused by too little insulin, resistance to insulin, or both. To understand diabetes, it is important to first und... |
<s>[INST] Type 2 diabetes - what to ask your doctor (Questions): Ask your provider to check the nerves, skin, and pulses in your feet. Also ask these questions: - How often should I check my feet? What should I do when I check them? What problems should I call my provider about? - Who should trim my toenails? Is ... |
<s>[INST] Type 2 diabetes - what to ask your doctor: Type 2 diabetes is a lifelong disease that causes a high level of sugar (glucose) in your blood. It can damage your organs. It can also lead to a heart attack or stroke and cause many other health problems. You can do many things to control your symptoms, prevent dam... |
<s>[INST] Leber congenital amaurosis: Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends ... |
<s>[INST] Leber congenital amaurosis (Treatment): The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, fu... |
<s>[INST] Stiff-Person Syndrome: Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle ... |
<s>[INST] Locked-In Syndrome (Prognosis): While in rare cases some patients may regain certain functions, the chances for motor recovery are very limited. [/INST] People with locked-in syndrome may regain functions in rare cases, but the chances for motor recovery are very limited. </s> |
<s>[INST] Locked-In Syndrome (Treatment): There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are a... |
<s>[INST] congenital diaphragmatic hernia (Genetic Changes): Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-K... |
<s>[INST] congenital diaphragmatic hernia: Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a th... |
<s>[INST] Colon cancer: Colon cancer is cancer of the large intestine (colon), which is the final part of your digestive tract. Most cases of colon cancer begin as small, noncancerous (benign) clumps of cells called adenomatous polyps. Over time some of these polyps can become colon cancers. Polyps may be small and pro... |
<s>[INST] Colon cancer (Treatment): The type of treatment your doctor recommends will depend largely on the stage of your cancer. The three primary treatment options are surgery, chemotherapy and radiation. Surgery for early-stage colon cancer If your colon cancer is very small, your doctor may recommend a minimally in... |
<s>[INST] Diarrhea (Treatment): Most cases of diarrhea clear on their own within a couple of days without treatment. If you've tried lifestyle changes and home remedies for diarrhea without success, your doctor might recommend medications or other treatments. Antibiotics Antibiotics might help treat diarrhea caused by ... |
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