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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. - 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. | Anal fissure Overview 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 at the end of your anus (anal sphincter). Anal fissures are very common in young infants but can affect people of any age. Most anal fissures get better with simple treatments, such as increased fiber intake or sitz baths. Some people with anal fissures may need medication or, occasionally, surgery. 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. 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 anal fissures include: - Anal cancer - HIV - Tuberculosis - Syphilis - Herpes 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. 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. 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 only by observation. An acute anal fissure looks like a fresh tear, somewhat like a paper cut. A chronic anal fissure likely has the tear, as well as two separate lumps or tags of skin, one internal (sentinel pile) and one external (hypertrophied papilla). The fissure's location offers clues about its cause. A fissure that occurs on the side of the anal opening, rather than the back or front, is more likely to be a sign of another disorder, such as Crohn's disease. Your doctor may recommend further testing if he or she thinks you have an underlying condition: - Flexible sigmoidoscopy. Your doctor will insert a thin, flexible tube with a tiny video into the bottom portion of your colon. This test may be done if you're younger than 50 and have no risk factors for intestinal diseases or colon cancer. - Colonoscopy. Your doctor will insert a flexible tube into your rectum to inspect the entire colon. This test may be done if you are older than age 50 or you have risk factors for colon cancer, signs of other conditions, or other symptoms such as abdominal pain or diarrhea. 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. 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. I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | {
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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. 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. | Anal fissure Overview 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 at the end of your anus (anal sphincter). Anal fissures are very common in young infants but can affect people of any age. Most anal fissures get better with simple treatments, such as increased fiber intake or sitz baths. Some people with anal fissures may need medication or, occasionally, surgery. 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. 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 anal fissures include: - Anal cancer - HIV - Tuberculosis - Syphilis - Herpes 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. 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. 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 only by observation. An acute anal fissure looks like a fresh tear, somewhat like a paper cut. A chronic anal fissure likely has the tear, as well as two separate lumps or tags of skin, one internal (sentinel pile) and one external (hypertrophied papilla). The fissure's location offers clues about its cause. A fissure that occurs on the side of the anal opening, rather than the back or front, is more likely to be a sign of another disorder, such as Crohn's disease. Your doctor may recommend further testing if he or she thinks you have an underlying condition: - Flexible sigmoidoscopy. Your doctor will insert a thin, flexible tube with a tiny video into the bottom portion of your colon. This test may be done if you're younger than 50 and have no risk factors for intestinal diseases or colon cancer. - Colonoscopy. Your doctor will insert a flexible tube into your rectum to inspect the entire colon. This test may be done if you are older than age 50 or you have risk factors for colon cancer, signs of other conditions, or other symptoms such as abdominal pain or diarrhea. 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. 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. I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | {
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Prevent hard stools and constipation by: - Making dietary changes -- eating more fiber or bulk, such as fruits, vegetables, and grains - Drinking more fluids - Using stool softeners Ask your provider about the following ointments or creams to help soothe the affected skin: - Numbing cream, if pain interferes with normal bowel movements - Petroleum jelly - Zinc oxide, 1% hydrocortisone cream, Preparation H, and other products A sitz bath is a warm water bath used for healing or cleansing. Sit in the bath 2 to 3 times a day. The water should cover only the hips and buttocks. If the anal fissures do not go away with home care methods, treatment may involve: - Botox injections into the muscle in the anus (anal sphincter) - Minor surgery to relax the anal muscle - Prescription creams such as nitrates or calcium channel blockers, applied over the fissure to help relax the muscles | Anal fissure Fissure in ano Anorectal fissure Anal ulcer Summary An anal fissure is a small split or tear in the thin moist tissue (mucosa) lining the lower rectum (anus). Causes Anal fissures are very common in infants, but they may occur at any age. In adults, fissures may be caused by passing large, hard stools, or having diarrhea for a long time. Other factors may include: Decreased blood flow to the area Too much tension in the sphincter muscles that control the anus The condition affects males and females equally. Anal fissures are also common in women after childbirth and in people with Crohn disease. Symptoms An anal fissure can be seen as a crack in the anal skin when the area is stretched slightly. The fissure is almost always in the middle. Anal fissures may cause painful bowel movements and bleeding. There may be blood on the outside of the stool or on the toilet paper (or baby wipes) after a bowel movement. Symptoms may begin suddenly or develop slowly over time. Exams and Tests The health care provider will perform a rectal exam and look at the anal tissue. Other medical tests that may be done include: Anoscopy -- examination of the anus, anal canal, and lower rectum Sigmoidoscopy -- examination of the lower part of large intestine Biopsy -- removal of rectal tissue for examination Colonoscopy -- examination of the colon Treatment Most fissures heal on their own and do not need treatment. To prevent or treat anal fissures in infants, be sure to change diapers often and clean the area gently. CHILDREN AND ADULTS Worrying about pain during a bowel movement may cause a person to avoid them. But not having bowel movements will only cause the stools to become even harder, which can make the anal fissure worse. Prevent hard stools and constipation by: Making dietary changes -- eating more fiber or bulk, such as fruits, vegetables, and grains Drinking more fluids Using stool softeners Ask your provider about the following ointments or creams to help soothe the affected skin: Numbing cream, if pain interferes with normal bowel movements Petroleum jelly Zinc oxide, 1% hydrocortisone cream, Preparation H, and other products A sitz bath is a warm water bath used for healing or cleansing. Sit in the bath 2 to 3 times a day. The water should cover only the hips and buttocks. If the anal fissures do not go away with home care methods, treatment may involve: Botox injections into the muscle in the anus (anal sphincter) Minor surgery to relax the anal muscle Prescription creams such as nitrates or calcium channel blockers, applied over the fissure to help relax the muscles Outlook (Prognosis) Anal fissures often heal quickly without any more problems. People who develop fissures once are more likely to have them in the future. Review Date 6/11/2018 Updated by: Debra G. Wechter, MD, FACS, general surgery practice specializing in breast cancer, Virginia Mason Medical Center, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | I have been battling Anal fissure for close to two years now and it has refused to heal all these while. Please what do you suggest i do? Thanks | {
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Treatments may include: - Antihistamines - Medicines that calm down the immune system (in severe cases) - Lidocaine mouthwashes to numb the area and make eating more comfortable (for mouth sores) - Topical corticosteroids or oral corticosteroids to reduce swelling and lower immune responses - Corticosteroid shots into a sore - Vitamin A as a cream or taken by mouth - Other medicines that are applied to the skin - Dressings placed over your skin with medicines to keep you from scratching - Ultraviolet light therapy | Lichen planus Summary Lichen planus is a condition that forms an itchy rash on the skin or in the mouth. Causes The exact cause of lichen planus is unknown. It may be related to an allergic or immune reaction. Risks for the condition include: Exposure to certain medicines, dyes, and other chemicals (including gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinide, phenothiazines, and diuretics) Diseases such as hepatitis C Lichen planus mostly affects middle-aged adults. It is less common in children. Symptoms Mouth sores are one symptom of lichen planus. They: May be tender or painful (mild cases may not cause pain) Are located on the sides of the tongue, inside of the cheek, or on the gums Look like bluish-white spots or pimples Form lines in a lacy network Gradually increase in size Sometimes form painful ulcers Skin sores are another symptom of lichen planus. They: Usually appear on the inner wrist, legs, torso, or genitals Are itchy Have even sides (symmetrical) and sharp borders Occur alone or in clusters, often at the site of a skin injury May be covered with thin white streaks or scratch marks Are shiny or scaly looking Have a dark, violet color May develop blisters or ulcers Other symptoms of lichen planus are: Dry mouth Hair loss Metallic taste in the mouth Ridges in the nails Exams and Tests Your health care provider may make the diagnosis based on the appearance of your skin or mouth lesions. A skin lesion biopsy or biopsy of a mouth lesion can confirm the diagnosis. Treatment The goal of treatment is to reduce symptoms and speed healing. If your symptoms are mild, you may not need treatment. Treatments may include: Antihistamines Medicines that calm down the immune system (in severe cases) Lidocaine mouthwashes to numb the area and make eating more comfortable (for mouth sores) Topical corticosteroids or oral corticosteroids to reduce swelling and lower immune responses Corticosteroid shots into a sore Vitamin A as a cream or taken by mouth Other medicines that are applied to the skin Dressings placed over your skin with medicines to keep you from scratching Ultraviolet light therapy Outlook (Prognosis) Lichen planus is usually not harmful. Most often it gets better with treatment. The condition often clears up within 18 months, but may come and go for years. If lichen planus is caused by a medicine you are taking, the rash should go away once you stop the medicine. Possible Complications Mouth ulcers that are present for a long time may develop into oral cancer. When to Contact a Medical Professional Call your provider if: Your skin or mouth lesions change in appearance The condition continues or gets worse, even with treatment Your dentist recommends changing your medicines or treating conditions that trigger the disorder Review Date 10/24/2016 Updated by: David L. Swanson, MD, Vice Chair of Medical Dermatology, Associate Professor of Dermatology, Mayo Medical School, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. I have been suffering from lichen planus since last four years. Some time it reduces the red sign and sometime it increases and I cannot take spicy food or hot food. Could you please suggest the remedies. I had consulted the dermatologist also .He gave me some ointment named as clone taxol for applying towards the read area. Awaiting your valuable advise I this behalf. With kind regards. Sent from my iPad | I have been suffering from lichen planus since last four years. Some time it reduces the red sign and sometime it increases and I cannot take spicy food or hot food. Could you please suggest the remedies. I had consulted the dermatologist also .He gave me some ointment named as clone taxol for applying towards the read area. Awaiting your valuable advise I this behalf. With kind regards. Sent from my iPad | {
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Call your provider if you notice: - Your toenail is not healing - | Ingrown toenail removal – discharge Onychocryptosis surgery Onychomycosis Unguis incarnates surgery Ingrown toenail removal Toenail Summary You had surgery to remove part or all of your toenail. This was done to relieve pain and discomfort due to an ingrown toenail. Ingrown toenails can occurs when the edge of your toenail grows into the skin of the toe. When You're in the Hospital The health care provider will most often numb your toe with a local anesthesia before the procedure starts. The provider will cut the part of the nail that has grown into the skin of the toe. Either part of the nail or the entire nail will have been removed. The surgery took an hour or less and your provider has covered the wound with a bandage. You can go home the same day. What to Expect at Home You may feel pain once the pain-numbing medicine wears off. Take the pain reliever your provider recommends. You may notice: Some swelling in your foot Light bleeding A yellow-colored discharge from the wound At home you should: Keep your feet raised above the level of your heart to reduce swelling Rest your foot and avoid moving it Keep your wound clean and dry Dressing Change the dressing about 12 to 24 hours after the surgery. Follow your provider's instructions for changing the dressing. Your provider may recommend soaking your foot in warm water before removing the dressing. This helps the bandage not stick to the wound. Change the dressing once or twice a day or as suggested by your provider. Foot Bath Soak your feet 2 to 3 times a day in the bath containing: Epsom salts - to relieve swelling and inflammation Betadine - an antibiotic to help reduce the risk of infection Dry your feet and apply antibiotic ointment your provider has given you. Dress the wound to keep it clean. Activity Try to reduce activity and rest your foot. Avoid bumping your toe or putting a lot of pressure on it. You may want to wear open-toed shoes. If wearing closed shoes, make sure they are not too tight. Wear cotton socks. You may need to do this for about 2 weeks. You can likely resume your normal activities within a week. Getting back to sports may take a little longer. Keep your wound covered both day and night in the first week. You can let your toe remain uncovered at night in the second week. This helps the wound heal. See your provider again in 2 to 3 days or as recommended. Prevention The toenail may grow inward again. To prevent this, follow these tips: Don't wear tight-fitting shoes or high heels Don't trim your nails too short or round the corners Don't pick or tear at the corners of the nails When to Call the Doctor Call your provider if you notice: Your toenail is not healing Fever Pain, even after taking pain-relief medicine Bleeding from the toenail Pus from the toenail Swelling or redness of the toe or foot Regrowth of the nail into the skin of the toe Review Date 12/10/2016 Updated by: Linda J. Vorvick, MD, Clinical Associate Professor, Department of Family Medicine, UW Medicine, School of Medicine, University of Washington, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | {
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Ingrown toenail removal ? discharge (Summary): You had surgery to remove part or all of your toenail. This was done to relieve pain and discomfort due to an ingrown toenail. | Ingrown toenail removal – discharge Onychocryptosis surgery Onychomycosis Unguis incarnates surgery Ingrown toenail removal Toenail Summary You had surgery to remove part or all of your toenail. This was done to relieve pain and discomfort due to an ingrown toenail. Ingrown toenails can occurs when the edge of your toenail grows into the skin of the toe. When You're in the Hospital The health care provider will most often numb your toe with a local anesthesia before the procedure starts. The provider will cut the part of the nail that has grown into the skin of the toe. Either part of the nail or the entire nail will have been removed. The surgery took an hour or less and your provider has covered the wound with a bandage. You can go home the same day. What to Expect at Home You may feel pain once the pain-numbing medicine wears off. Take the pain reliever your provider recommends. You may notice: Some swelling in your foot Light bleeding A yellow-colored discharge from the wound At home you should: Keep your feet raised above the level of your heart to reduce swelling Rest your foot and avoid moving it Keep your wound clean and dry Dressing Change the dressing about 12 to 24 hours after the surgery. Follow your provider's instructions for changing the dressing. Your provider may recommend soaking your foot in warm water before removing the dressing. This helps the bandage not stick to the wound. Change the dressing once or twice a day or as suggested by your provider. Foot Bath Soak your feet 2 to 3 times a day in the bath containing: Epsom salts - to relieve swelling and inflammation Betadine - an antibiotic to help reduce the risk of infection Dry your feet and apply antibiotic ointment your provider has given you. Dress the wound to keep it clean. Activity Try to reduce activity and rest your foot. Avoid bumping your toe or putting a lot of pressure on it. You may want to wear open-toed shoes. If wearing closed shoes, make sure they are not too tight. Wear cotton socks. You may need to do this for about 2 weeks. You can likely resume your normal activities within a week. Getting back to sports may take a little longer. Keep your wound covered both day and night in the first week. You can let your toe remain uncovered at night in the second week. This helps the wound heal. See your provider again in 2 to 3 days or as recommended. Prevention The toenail may grow inward again. To prevent this, follow these tips: Don't wear tight-fitting shoes or high heels Don't trim your nails too short or round the corners Don't pick or tear at the corners of the nails When to Call the Doctor Call your provider if you notice: Your toenail is not healing Fever Pain, even after taking pain-relief medicine Bleeding from the toenail Pus from the toenail Swelling or redness of the toe or foot Regrowth of the nail into the skin of the toe Review Date 12/10/2016 Updated by: Linda J. Vorvick, MD, Clinical Associate Professor, Department of Family Medicine, UW Medicine, School of Medicine, University of Washington, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | {
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If you have diabetes, nerve problem in the leg or foot, poor blood circulation to your foot, or an infection around the nail, see a provider right away. Don't try to treat an ingrown nail at home. Otherwise, to treat an ingrown nail at home: - Soak the foot in warm water 3 to 4 times a day if possible. After soaking, keep the toe dry. - Gently massage over the inflamed skin. - Place a small piece of cotton or dental floss under the nail. Wet the cotton or floss with water or antiseptic. When trimming your toenails: - Briefly soak your foot in warm water to soften the nails. - Use a clean, sharp trimmer. - Trim toenails straight across the top. Do not taper or round the corners or trim too short. - Do not try to cut out the ingrown portion of the nail yourself. This will only make the problem worse. Consider wearing sandals until the problem goes away. Over-the-counter medicine that is applied to the ingrown toenail may help with the pain, but it does not treat the problem. If this doesn't work and the ingrown nail gets worse, see your family doctor, a foot specialist (podiatrist), or a skin specialist (dermatologist). If the ingrown nail doesn't heal or keeps coming back, your provider may remove part of the nail: - Numbing medicine is first injected into the toe. - The ingrown part of the nail is removed. This procedure is called a partial nail avulsion. - It takes 2 to 4 months for the nail to regrow. If the toe is infected, your doctor may prescribe antibiotics. After the procedure, follow any instructions for helping your nail heal. | Ingrown toenail Onychocryptosis Unguis incarnates Surgical nail avulsion Matrix excision Ingrown toenail removal Summary An ingrown toenail occurs when the edge of the nail grows into the skin of the toe. Causes An ingrown toenail can result from a number of things. Poorly fitting shoes and toenails that are not properly trimmed are the most common causes. The skin along the edge of a toenail may become red and infected. The great toe is affected most often, but any toenail can become ingrown. An ingrown toenail may occur when extra pressure is placed on your toe. This pressure is caused by shoes that are too tight or fit poorly. If you walk often or play sports, a shoe that is even a little tight can cause this problem. Deformities of the foot or toes can also place extra pressure on the toe. Nails that are not trimmed properly can also cause ingrown toenails: Toenails that are trimmed too short, or if the edges are rounded rather than cut straight across may cause the nail to curl and grow into the skin. Poor eyesight, inability to reach the toes easily, or having thick nails can make it hard to properly trim nails. Picking or tearing at the corners of the nails can also cause an ingrown toenail. Some people are born with nails that are curved and grow into the skin. Others have toenails that are too large for their toes. Stubbing your toe or other injuries can also lead to an ingrown toenail. Symptoms There may be pain, redness and swelling around the nail. Exams and Tests Your health care provider will examine your toenail and ask about your symptoms. Tests or x-rays aren't usually needed. Treatment If you have diabetes, nerve problem in the leg or foot, poor blood circulation to your foot, or an infection around the nail, see a provider right away. Don't try to treat an ingrown nail at home. Otherwise, to treat an ingrown nail at home: Soak the foot in warm water 3 to 4 times a day if possible. After soaking, keep the toe dry. Gently massage over the inflamed skin. Place a small piece of cotton or dental floss under the nail. Wet the cotton or floss with water or antiseptic. When trimming your toenails: Briefly soak your foot in warm water to soften the nails. Use a clean, sharp trimmer. Trim toenails straight across the top. Do not taper or round the corners or trim too short. Do not try to cut out the ingrown portion of the nail yourself. This will only make the problem worse. Consider wearing sandals until the problem goes away. Over-the-counter medicine that is applied to the ingrown toenail may help with the pain, but it does not treat the problem. If this doesn't work and the ingrown nail gets worse, see your family doctor, a foot specialist (podiatrist), or a skin specialist (dermatologist). If the ingrown nail doesn't heal or keeps coming back, your provider may remove part of the nail: Numbing medicine is first injected into the toe. The ingrown part of the nail is removed. This procedure is called a partial nail avulsion. It takes 2 to 4 months for the nail to regrow. If the toe is infected, your doctor may prescribe antibiotics. After the procedure, follow any instructions for helping your nail heal. Outlook (Prognosis) Treatment usually controls the infection and relieves pain. The condition is likely to return if you don't practice good foot care. This condition may become serious in people with diabetes, poor blood circulation, and nerve problems. Possible Complications In severe cases, the infection can spread through the toe and into the bone. When to Contact a Medical Professional Call your provider if you: Are not able to treat an ingrown toenail at home Have severe pain, redness, swelling, or fever Have diabetes, nerve damage in the leg or foot, poor circulation to your foot, or an infection around the nail Prevention Wear shoes that fit properly. Shoes that you wear every day should have plenty of room around your toes. Shoes that you wear for walking briskly or for playing sports should also have plenty of room, but not be too loose. When trimming your toenails: Briefly soak your foot in warm water to soften the nail. Use a clean, sharp nail trimmer. Trim toenails straight across the top. Do not taper or round the corners or trim too short. Do not pick or tear at the nails. Keep your feet clean and dry. People with diabetes should have routine foot exams and nail care. Review Date 4/12/2017 Updated by: Thomas N. Joseph, MD, Private Practice specializing in Orthopaedics, Subspecialty Foot and Ankle, Camden Bone and Joint, Camden, SC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | {
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The toenail may grow inward again. To prevent this, follow these tips: - Don't wear tight-fitting shoes or high heels - Don't trim your nails too short or round the corners - Don't pick or tear at the corners of the nails | Ingrown toenail removal – discharge Onychocryptosis surgery Onychomycosis Unguis incarnates surgery Ingrown toenail removal Toenail Summary You had surgery to remove part or all of your toenail. This was done to relieve pain and discomfort due to an ingrown toenail. Ingrown toenails can occurs when the edge of your toenail grows into the skin of the toe. When You're in the Hospital The health care provider will most often numb your toe with a local anesthesia before the procedure starts. The provider will cut the part of the nail that has grown into the skin of the toe. Either part of the nail or the entire nail will have been removed. The surgery took an hour or less and your provider has covered the wound with a bandage. You can go home the same day. What to Expect at Home You may feel pain once the pain-numbing medicine wears off. Take the pain reliever your provider recommends. You may notice: Some swelling in your foot Light bleeding A yellow-colored discharge from the wound At home you should: Keep your feet raised above the level of your heart to reduce swelling Rest your foot and avoid moving it Keep your wound clean and dry Dressing Change the dressing about 12 to 24 hours after the surgery. Follow your provider's instructions for changing the dressing. Your provider may recommend soaking your foot in warm water before removing the dressing. This helps the bandage not stick to the wound. Change the dressing once or twice a day or as suggested by your provider. Foot Bath Soak your feet 2 to 3 times a day in the bath containing: Epsom salts - to relieve swelling and inflammation Betadine - an antibiotic to help reduce the risk of infection Dry your feet and apply antibiotic ointment your provider has given you. Dress the wound to keep it clean. Activity Try to reduce activity and rest your foot. Avoid bumping your toe or putting a lot of pressure on it. You may want to wear open-toed shoes. If wearing closed shoes, make sure they are not too tight. Wear cotton socks. You may need to do this for about 2 weeks. You can likely resume your normal activities within a week. Getting back to sports may take a little longer. Keep your wound covered both day and night in the first week. You can let your toe remain uncovered at night in the second week. This helps the wound heal. See your provider again in 2 to 3 days or as recommended. Prevention The toenail may grow inward again. To prevent this, follow these tips: Don't wear tight-fitting shoes or high heels Don't trim your nails too short or round the corners Don't pick or tear at the corners of the nails When to Call the Doctor Call your provider if you notice: Your toenail is not healing Fever Pain, even after taking pain-relief medicine Bleeding from the toenail Pus from the toenail Swelling or redness of the toe or foot Regrowth of the nail into the skin of the toe Review Date 12/10/2016 Updated by: Linda J. Vorvick, MD, Clinical Associate Professor, Department of Family Medicine, UW Medicine, School of Medicine, University of Washington, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | I have no help its about 4 years now I have ingrown toenail i have a problem of ingrown toenail its about 4 years now I have this problem i need help | {
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If you or someone you are with overdoses, call your local emergency number (such as 911), or your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. | Iron overdose Ferrous sulfate overdose Ferrous gluconate overdose Ferrous fumarate overdose Summary Iron is a mineral found in many over-the-counter supplements. Iron overdose occurs when someone takes more than the normal or recommended amount of this mineral. This can be by accident or on purpose. Iron overdose is especially dangerous for children. A severe overdose can happen if a child eats adult multivitamins, such as prenatal vitamins. If the child eats too many pediatric multivitamins, the effect is usually minor. This article is for information only. DO NOT use it to treat or manage an actual overdose. If you or someone you are with has an overdose, call your local emergency number (such as 911), or your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. Poisonous Ingredient Iron can be harmful in large amounts. Where Found Iron is an ingredient in many mineral and vitamin supplements. Iron supplements are also sold by themselves. Types include: Ferrous sulfate (Feosol, Slow Fe) Ferrous gluconate (Fergon) Ferrous fumarate (Femiron, Feostat) Other products may also contain iron. Symptoms Below are symptoms of an iron overdose in different parts of the body. AIRWAYS AND LUNGS Buildup of fluids in the lungs STOMACH AND INTESTINES Black, and possibly bloody stools Diarrhea Liver damage Metallic taste in mouth Nausea Vomiting blood HEART AND BLOOD Dehydration Low blood pressure Fast and weak pulse Shock NERVOUS SYSTEM Chills Coma (decreased level of consciousness and lack of responsiveness, may occur within 1/2 hour to 1 hour after overdose) Convulsions Dizziness Drowsiness Fever Headache Lack of desire to do anything SKIN Bluish-colored lips and fingernails Flushing Loss of color from the skin (pallor) Note: Symptoms may go away in a few hours, then return again after 1 day or later. Before Calling Emergency Have this information ready: Person's age, weight, and condition Name of the product (ingredients and strength, if known) Time it was swallowed Amount swallowed If the medicine was prescribed for the person Poison Control Your local poison control center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. This national hotline number will let you talk to experts in poisoning. They will give you further instructions. This is a free and confidential service. All local poison control centers in the United States use this national number. You should call if you have any questions about poisoning or poison prevention. It does NOT need to be an emergency. You can call for any reason, 24 hours a day, 7 days a week. What to Expect at the Emergency Room Take the container to the hospital with you, if possible. The health care provider will measure and monitor the person's vital signs, including temperature, pulse, breathing rate, and blood pressure. Symptoms will be treated. Tests that may done include: Blood and urine tests, including tests to check iron levels ECG (electrocardiogram, or heart tracing) X-ray to detect and track iron tablets through the stomach and intestines Treatment may include: Fluids through a vein (by IV) Medicine to help remove iron from the body and treat symptoms Endoscopy -- camera and tube placed down the throat to view the esophagus and the stomach and to remove pills or stop internal bleeding Whole bowel irrigation with a special solution to quickly flush the iron through the stomach and intestines (taken by mouth or through a tube through the nose into the stomach) Breathing support, including tube through the mouth into the lungs and connected to a breathing machine (ventilator) Outlook (Prognosis) There is a good chance of recovery if the person's symptoms are gone 48 hours after the iron overdose. But, severe liver damage can occur 2 to 5 days after the overdose. Some people have died up to a week after an iron overdose. The more quickly the person receives treatment, the better the chance for survival. Iron overdose can be very severe in children. Children may sometimes eat large amounts of iron pills because they look like candy. Many manufacturers have changed their pills so they no longer look like candy. Review Date 10/8/2017 Updated by: Jacob L. Heller, MD, MHA, Emergency Medicine, Emeritus, Virginia Mason Medical Center, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Iron Overdose Um...i took 25 iron pills...what do i do...this was last night | Iron Overdose Um...i took 25 iron pills...what do i do...this was last night | {
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There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections.
In people with severe lung disease, lung transplantation may be an option. | Kartagener syndrome Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia, Kartagener type Dextrocardia-bronchiectasis-sinusitis syndrome Primary ciliary dyskinesia and situs inversus See More Summary Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. [1] [2] [3] It can be cause by changes ( mutations ) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. [4] [2] There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics . [1] [2] [3] Symptoms Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. [1] [2] The signs and symptoms of primary ciliary dyskinesia vary, but may include: [1] [2] [3] Neonatal respiratory distress Frequent respiratory infections that can lead to severe lung damage Chronic nasal congestion Frequent sinus infections Recurrent middle ear infections, particularly in early childhood Hearing loss Hydrocephalus Infertility Cause Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. [1] [4] [3] Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. [1] [4] [3] Inheritance Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Diagnosis Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue ( biopsy ) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change ( mutation ) is known, genetic testing can also be used to confirm the diagnosis. [1] [2] [3] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option. [1] [2] [3] For more information on the treatment and management of Kartagener syndrome, please click here. Prognosis The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. [3] [2] [5] I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | {
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Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. Kartagener syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue ( biopsy ) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change ( mutation ) is known, genetic testing can also be used to confirm the diagnosis.l. There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. In people with severe lung disease, lung transplantation may be an option. The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. | Kartagener syndrome Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia, Kartagener type Dextrocardia-bronchiectasis-sinusitis syndrome Primary ciliary dyskinesia and situs inversus See More Summary Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. [1] [2] [3] It can be cause by changes ( mutations ) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. [4] [2] There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics . [1] [2] [3] Symptoms Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. [1] [2] The signs and symptoms of primary ciliary dyskinesia vary, but may include: [1] [2] [3] Neonatal respiratory distress Frequent respiratory infections that can lead to severe lung damage Chronic nasal congestion Frequent sinus infections Recurrent middle ear infections, particularly in early childhood Hearing loss Hydrocephalus Infertility Cause Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. [1] [4] [3] Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. [1] [4] [3] Inheritance Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Diagnosis Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue ( biopsy ) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change ( mutation ) is known, genetic testing can also be used to confirm the diagnosis. [1] [2] [3] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option. [1] [2] [3] For more information on the treatment and management of Kartagener syndrome, please click here. Prognosis The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. [3] [2] [5] I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | {
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The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. ... with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. | Kartagener syndrome Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia, Kartagener type Dextrocardia-bronchiectasis-sinusitis syndrome Primary ciliary dyskinesia and situs inversus See More Summary Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. [1] [2] [3] It can be cause by changes ( mutations ) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. [4] [2] There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics . [1] [2] [3] Symptoms Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. [1] [2] The signs and symptoms of primary ciliary dyskinesia vary, but may include: [1] [2] [3] Neonatal respiratory distress Frequent respiratory infections that can lead to severe lung damage Chronic nasal congestion Frequent sinus infections Recurrent middle ear infections, particularly in early childhood Hearing loss Hydrocephalus Infertility Cause Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. [1] [4] [3] Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. [1] [4] [3] Inheritance Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Diagnosis Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue ( biopsy ) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change ( mutation ) is known, genetic testing can also be used to confirm the diagnosis. [1] [2] [3] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option. [1] [2] [3] For more information on the treatment and management of Kartagener syndrome, please click here. Prognosis The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. [3] [2] [5] I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | {
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Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. | Kartagener syndrome Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia, Kartagener type Dextrocardia-bronchiectasis-sinusitis syndrome Primary ciliary dyskinesia and situs inversus See More Summary Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. [1] [2] [3] It can be cause by changes ( mutations ) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. [4] [2] There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics . [1] [2] [3] Symptoms Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. [1] [2] The signs and symptoms of primary ciliary dyskinesia vary, but may include: [1] [2] [3] Neonatal respiratory distress Frequent respiratory infections that can lead to severe lung damage Chronic nasal congestion Frequent sinus infections Recurrent middle ear infections, particularly in early childhood Hearing loss Hydrocephalus Infertility Cause Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. [1] [4] [3] Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. [1] [4] [3] Inheritance Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Diagnosis Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue ( biopsy ) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change ( mutation ) is known, genetic testing can also be used to confirm the diagnosis. [1] [2] [3] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option. [1] [2] [3] For more information on the treatment and management of Kartagener syndrome, please click here. Prognosis The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. [3] [2] [5] I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | {
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Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. | Kartagener syndrome Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia, Kartagener type Dextrocardia-bronchiectasis-sinusitis syndrome Primary ciliary dyskinesia and situs inversus See More Summary Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. [1] [2] [3] It can be cause by changes ( mutations ) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. [4] [2] There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics . [1] [2] [3] Symptoms Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. [1] [2] The signs and symptoms of primary ciliary dyskinesia vary, but may include: [1] [2] [3] Neonatal respiratory distress Frequent respiratory infections that can lead to severe lung damage Chronic nasal congestion Frequent sinus infections Recurrent middle ear infections, particularly in early childhood Hearing loss Hydrocephalus Infertility Cause Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. [1] [4] [3] Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. [1] [4] [3] Inheritance Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Diagnosis Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue ( biopsy ) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change ( mutation ) is known, genetic testing can also be used to confirm the diagnosis. [1] [2] [3] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option. [1] [2] [3] For more information on the treatment and management of Kartagener syndrome, please click here. Prognosis The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. [3] [2] [5] I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | {
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Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. The signs and symptoms of primary ciliary dyskinesia vary, but may include: ... Frequent respiratory infections that can lead to severe lung damage Chronic nasal congestion Frequent sinus infections Recurrent middle ear infections, particularly in early childhood Hearing loss Hydrocephalus Infertility | Kartagener syndrome Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Dextrocardia bronchiectasis and sinusitis Siewert syndrome Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia, Kartagener type Dextrocardia-bronchiectasis-sinusitis syndrome Primary ciliary dyskinesia and situs inversus See More Summary Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. [1] [2] [3] It can be cause by changes ( mutations ) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. [4] [2] There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics . [1] [2] [3] Symptoms Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems. [1] [2] The signs and symptoms of primary ciliary dyskinesia vary, but may include: [1] [2] [3] Neonatal respiratory distress Frequent respiratory infections that can lead to severe lung damage Chronic nasal congestion Frequent sinus infections Recurrent middle ear infections, particularly in early childhood Hearing loss Hydrocephalus Infertility Cause Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs . The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome. [1] [4] [3] Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases. [1] [4] [3] Inheritance Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Diagnosis Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue ( biopsy ) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change ( mutation ) is known, genetic testing can also be used to confirm the diagnosis. [1] [2] [3] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment There is currently no cure for Kartagener syndrome . Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option. [1] [2] [3] For more information on the treatment and management of Kartagener syndrome, please click here. Prognosis The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided. [3] [2] [5] I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you. | {
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SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia). Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly). There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern. The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells. | SLC4A1-associated distal renal tubular acidosis classic distal renal tubular acidosis renal tubular acidosis type I RTA, classic type Description SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia). Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly). There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern. The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells. Frequency The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand. Causes Both the autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis are caused by mutations in the SLC4A1 gene. This gene provides instructions for making the anion exchanger 1 (AE1) protein, which transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine (chloride ions) for negatively charged bicarbonate molecules (bicarbonate ions). The AE1 protein is found in the cell membrane of kidney cells and red blood cells. In kidney cells, the exchange of bicarbonate through AE1 allows acid to be released from the cell into the urine. In red blood cells, AE1 attaches to other proteins that make up the structural framework (the cytoskeleton) of the cells, helping to maintain their structure. The SLC4A1 gene mutations involved in either form of SLC4A1-associated distal renal tubular acidosis lead to production of altered AE1 proteins that cannot get to the correct location in the cell membrane. In the autosomal dominant form of the condition, gene mutations affect only one copy of the SLC4A1 gene, and normal AE1 protein is produced from the other copy. However, the altered protein attaches to the normal protein and keeps it from getting to the correct location, leading to a severe reduction or absence of AE1 protein in the cell membrane. In autosomal recessive distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, so all of the protein produced from this gene is altered and not able to get to the correct location. Improper location or absence of AE1 in kidney cell membranes disrupts bicarbonate exchange, and as a result, acid cannot be released into the urine. Instead, the acid builds up in the blood in most affected individuals, leading to metabolic acidosis and the other features of complete distal renal tubular acidosis. It is not clear why some people develop metabolic acidosis and others do not. Researchers suggest that in individuals with incomplete distal renal tubular acidosis, another mechanism is able to help regulate blood acidity (pH) and keep metabolic acidosis from developing. In red blood cells, interaction with a protein called glycophorin A can often help the altered AE1 protein get to the cell membrane where it can perform its function, which explains why most people with SLC4A1-associated distal renal tubular acidosis do not have blood cell abnormalities. However, some altered AE1 proteins cannot be helped by glycophorin A and are not found in the cell membrane. Without AE1, the red blood cells are unstable; breakdown of these abnormal red blood cells may lead to hemolytic anemia. Some people have nonhereditary forms of distal renal tubular acidosis; these forms can be caused by immune system problems or other conditions that damage the kidneys. These individuals often have additional signs and symptoms related to the original condition. Inheritance Pattern SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, SLC4A1-associated distal renal tubular acidosis has an autosomal recessive pattern of inheritance, which means a mutation must occur in both copies of the SLC4A1 gene for the condition to develop. This pattern occurs with certain types of SLC4A1 gene mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sources for This Page Alper SL. Molecular physiology and genetics of Na+-independent SLC4 anion exchangers. J Exp Biol. 2009 Jun;212(Pt 11):1672-83. doi: 10.1242/jeb.029454. Review. know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | {
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Both the autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis are caused by mutations in the SLC4A1 gene. ... the acid builds up in the blood in most affected individuals, leading to metabolic acidosis and the other features of complete distal renal tubular acidosis. It is not clear why some people develop metabolic acidosis and others do not. Researchers suggest that in individuals with incomplete distal renal tubular acidosis, another mechanism is able to help regulate blood acidity (pH) and keep metabolic acidosis from developing. ... Some people have nonhereditary forms of distal renal tubular acidosis; these forms can be caused by immune system problems or other conditions that damage the kidneys. These individuals often have additional signs and symptoms related to the original condition. | SLC4A1-associated distal renal tubular acidosis classic distal renal tubular acidosis renal tubular acidosis type I RTA, classic type Description SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia). Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly). There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern. The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells. Frequency The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand. Causes Both the autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis are caused by mutations in the SLC4A1 gene. This gene provides instructions for making the anion exchanger 1 (AE1) protein, which transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine (chloride ions) for negatively charged bicarbonate molecules (bicarbonate ions). The AE1 protein is found in the cell membrane of kidney cells and red blood cells. In kidney cells, the exchange of bicarbonate through AE1 allows acid to be released from the cell into the urine. In red blood cells, AE1 attaches to other proteins that make up the structural framework (the cytoskeleton) of the cells, helping to maintain their structure. The SLC4A1 gene mutations involved in either form of SLC4A1-associated distal renal tubular acidosis lead to production of altered AE1 proteins that cannot get to the correct location in the cell membrane. In the autosomal dominant form of the condition, gene mutations affect only one copy of the SLC4A1 gene, and normal AE1 protein is produced from the other copy. However, the altered protein attaches to the normal protein and keeps it from getting to the correct location, leading to a severe reduction or absence of AE1 protein in the cell membrane. In autosomal recessive distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, so all of the protein produced from this gene is altered and not able to get to the correct location. Improper location or absence of AE1 in kidney cell membranes disrupts bicarbonate exchange, and as a result, acid cannot be released into the urine. Instead, the acid builds up in the blood in most affected individuals, leading to metabolic acidosis and the other features of complete distal renal tubular acidosis. It is not clear why some people develop metabolic acidosis and others do not. Researchers suggest that in individuals with incomplete distal renal tubular acidosis, another mechanism is able to help regulate blood acidity (pH) and keep metabolic acidosis from developing. In red blood cells, interaction with a protein called glycophorin A can often help the altered AE1 protein get to the cell membrane where it can perform its function, which explains why most people with SLC4A1-associated distal renal tubular acidosis do not have blood cell abnormalities. However, some altered AE1 proteins cannot be helped by glycophorin A and are not found in the cell membrane. Without AE1, the red blood cells are unstable; breakdown of these abnormal red blood cells may lead to hemolytic anemia. Some people have nonhereditary forms of distal renal tubular acidosis; these forms can be caused by immune system problems or other conditions that damage the kidneys. These individuals often have additional signs and symptoms related to the original condition. Inheritance Pattern SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, SLC4A1-associated distal renal tubular acidosis has an autosomal recessive pattern of inheritance, which means a mutation must occur in both copies of the SLC4A1 gene for the condition to develop. This pattern occurs with certain types of SLC4A1 gene mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sources for This Page Alper SL. Molecular physiology and genetics of Na+-independent SLC4 anion exchangers. J Exp Biol. 2009 Jun;212(Pt 11):1672-83. doi: 10.1242/jeb.029454. Review. know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | {
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SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | SLC4A1-associated distal renal tubular acidosis classic distal renal tubular acidosis renal tubular acidosis type I RTA, classic type Description SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia). Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly). There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern. The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells. Frequency The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand. Causes Both the autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis are caused by mutations in the SLC4A1 gene. This gene provides instructions for making the anion exchanger 1 (AE1) protein, which transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine (chloride ions) for negatively charged bicarbonate molecules (bicarbonate ions). The AE1 protein is found in the cell membrane of kidney cells and red blood cells. In kidney cells, the exchange of bicarbonate through AE1 allows acid to be released from the cell into the urine. In red blood cells, AE1 attaches to other proteins that make up the structural framework (the cytoskeleton) of the cells, helping to maintain their structure. The SLC4A1 gene mutations involved in either form of SLC4A1-associated distal renal tubular acidosis lead to production of altered AE1 proteins that cannot get to the correct location in the cell membrane. In the autosomal dominant form of the condition, gene mutations affect only one copy of the SLC4A1 gene, and normal AE1 protein is produced from the other copy. However, the altered protein attaches to the normal protein and keeps it from getting to the correct location, leading to a severe reduction or absence of AE1 protein in the cell membrane. In autosomal recessive distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, so all of the protein produced from this gene is altered and not able to get to the correct location. Improper location or absence of AE1 in kidney cell membranes disrupts bicarbonate exchange, and as a result, acid cannot be released into the urine. Instead, the acid builds up in the blood in most affected individuals, leading to metabolic acidosis and the other features of complete distal renal tubular acidosis. It is not clear why some people develop metabolic acidosis and others do not. Researchers suggest that in individuals with incomplete distal renal tubular acidosis, another mechanism is able to help regulate blood acidity (pH) and keep metabolic acidosis from developing. In red blood cells, interaction with a protein called glycophorin A can often help the altered AE1 protein get to the cell membrane where it can perform its function, which explains why most people with SLC4A1-associated distal renal tubular acidosis do not have blood cell abnormalities. However, some altered AE1 proteins cannot be helped by glycophorin A and are not found in the cell membrane. Without AE1, the red blood cells are unstable; breakdown of these abnormal red blood cells may lead to hemolytic anemia. Some people have nonhereditary forms of distal renal tubular acidosis; these forms can be caused by immune system problems or other conditions that damage the kidneys. These individuals often have additional signs and symptoms related to the original condition. Inheritance Pattern SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, SLC4A1-associated distal renal tubular acidosis has an autosomal recessive pattern of inheritance, which means a mutation must occur in both copies of the SLC4A1 gene for the condition to develop. This pattern occurs with certain types of SLC4A1 gene mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sources for This Page Alper SL. Molecular physiology and genetics of Na+-independent SLC4 anion exchangers. J Exp Biol. 2009 Jun;212(Pt 11):1672-83. doi: 10.1242/jeb.029454. Review. know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know | {
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Lewy body dementia is one of the most common forms of progressive dementia. People affected by this condition may experience a variety of symptoms such as changes in alertness and attention; hallucinations; problems with movement and posture; muscle stiffness; confusion; and/or memory loss. Although the exact cause of Lewy body dementia is poorly understood, symptoms are thought to result when clumps of a protein called alpha-synuclein ("Lewy bodies") accumulate in the brain. Lewy body dementia usually occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. Studies of these families suggest that there may be a genetic component to the condition in some cases. Some of these cases appear to be due to single gene changes ( mutations ) that follow an autosomal dominant pattern of inheritance. Other familial cases do not follow a specific pattern of inheritance and likely have a multifactorial cause (associated with the effects of multiple genes in combination with lifestyle and environmental factors ). Most cases of Lewy body dementia are not thought to be inherited. There is currently no cure for Lewy body dementia; however, medications may be available to help manage the associated symptoms. | Lewy body dementia Lewy body disease DLB Diffuse Lewy body disease Lewy body disease DLB Diffuse Lewy body disease Autosomal dominant diffuse Lewy body disease See More Summary Lewy body dementia is one of the most common forms of progressive dementia. People affected by this condition may experience a variety of symptoms such as changes in alertness and attention; hallucinations; problems with movement and posture; muscle stiffness; confusion; and/or memory loss. Although the exact cause of Lewy body dementia is poorly understood, symptoms are thought to result when clumps of a protein called alpha-synuclein ("Lewy bodies") accumulate in the brain. Lewy body dementia usually occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. There is currently no cure for Lewy body dementia; however, medications may be available to help manage the associated symptoms. [1] [2] [3] Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Delusions 0000746 Dementia Dementia, progressive Progressive dementia 0000726 Fluctuations in consciousness 0007159 Lewy bodies 0100315 Parkinsonism 0001300 Visual hallucinations 0002367 Showing of Cause The exact underlying cause of Lewy body dementia is poorly understood. The symptoms of the condition are thought to occur when clumps of a protein called alpha-synuclein accumulate in the regions of the brain involved in thinking, memory and movement. The build-up of these clumps (which are called "Lewy bodies") appears to be associated with a loss of certain neurons (nerve cells ) in the brain that produce two important neurotransmitters (chemicals that act as messengers between brain cells). The neurotransmitter, acetylcholine, is important for memory and learning. The other, dopamine, plays an important role in behavior, cognition, movement, motivation, sleep, and mood. [4] Although Lewy body dementia usually occurs sporadically, more than one family member can rarely be affected. Studies of these families suggest that there may be a genetic component to the condition in some cases. For example, copy number variants or changes ( mutations ) in the SNCA gene have been reported in a few affected families. [5] [6] The APOE epsilon4 allele and mutations in the GBA gene have been associated with an increased risk of Lewy body dementia and the APOE epsilon2 allele with a decreased risk. [5] [7] [2] Inheritance Most cases of Lewy body dementia are not thought to be inherited . The condition generally occurs sporadically in people with no family history of the condition. [4] Rarely, the condition can affect more than one family member. Some of these cases appear to be due to single gene changes ( mutations ) that follow an autosomal dominant pattern of inheritance. Other familial cases do not follow a specific pattern of inheritance and likely have a multifactorial cause (associated with the effects of multiple genes in combination with lifestyle and environmental factors ). [6] [5] Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment The Lewy Body Dementia Association offers detailed and up-to-date information regarding the treatment and management of Lewy body dementia . Please click on the link to access this resource. Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. 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Most cases of Lewy body dementia are not thought to be inherited . The condition generally occurs sporadically in people with no family history of the condition. Rarely, the condition can affect more than one family member. Some of these cases appear to be due to single gene changes ( mutations ) that follow an autosomal dominant pattern of inheritance. Other familial cases do not follow a specific pattern of inheritance and likely have a multifactorial cause (associated with the effects of multiple genes in combination with lifestyle and environmental factors ). | Lewy body dementia Lewy body disease DLB Diffuse Lewy body disease Lewy body disease DLB Diffuse Lewy body disease Autosomal dominant diffuse Lewy body disease See More Summary Lewy body dementia is one of the most common forms of progressive dementia. People affected by this condition may experience a variety of symptoms such as changes in alertness and attention; hallucinations; problems with movement and posture; muscle stiffness; confusion; and/or memory loss. Although the exact cause of Lewy body dementia is poorly understood, symptoms are thought to result when clumps of a protein called alpha-synuclein ("Lewy bodies") accumulate in the brain. Lewy body dementia usually occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. There is currently no cure for Lewy body dementia; however, medications may be available to help manage the associated symptoms. [1] [2] [3] Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Delusions 0000746 Dementia Dementia, progressive Progressive dementia 0000726 Fluctuations in consciousness 0007159 Lewy bodies 0100315 Parkinsonism 0001300 Visual hallucinations 0002367 Showing of Cause The exact underlying cause of Lewy body dementia is poorly understood. The symptoms of the condition are thought to occur when clumps of a protein called alpha-synuclein accumulate in the regions of the brain involved in thinking, memory and movement. The build-up of these clumps (which are called "Lewy bodies") appears to be associated with a loss of certain neurons (nerve cells ) in the brain that produce two important neurotransmitters (chemicals that act as messengers between brain cells). The neurotransmitter, acetylcholine, is important for memory and learning. The other, dopamine, plays an important role in behavior, cognition, movement, motivation, sleep, and mood. [4] Although Lewy body dementia usually occurs sporadically, more than one family member can rarely be affected. Studies of these families suggest that there may be a genetic component to the condition in some cases. For example, copy number variants or changes ( mutations ) in the SNCA gene have been reported in a few affected families. [5] [6] The APOE epsilon4 allele and mutations in the GBA gene have been associated with an increased risk of Lewy body dementia and the APOE epsilon2 allele with a decreased risk. [5] [7] [2] Inheritance Most cases of Lewy body dementia are not thought to be inherited . The condition generally occurs sporadically in people with no family history of the condition. [4] Rarely, the condition can affect more than one family member. Some of these cases appear to be due to single gene changes ( mutations ) that follow an autosomal dominant pattern of inheritance. Other familial cases do not follow a specific pattern of inheritance and likely have a multifactorial cause (associated with the effects of multiple genes in combination with lifestyle and environmental factors ). [6] [5] Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment The Lewy Body Dementia Association offers detailed and up-to-date information regarding the treatment and management of Lewy body dementia . Please click on the link to access this resource. Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated. | I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated. | {
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Lewy body dementia signs and symptoms may include: - Visual hallucinations. Hallucinations may be one of the first symptoms, and they often recur. Sound (auditory), smell (olfactory) or touch (tactile) hallucinations are possible. - Movement disorders. Signs of Parkinson's disease (parkinsonian symptoms), such as slowed movement, rigid muscles, tremor or a shuffling walk may occur. - Poor regulation of body functions (autonomic nervous system). Blood pressure, pulse, sweating and the digestive process are regulated by a part of the nervous system that is often affected by Lewy body dementia. This can result in dizziness, falls and bowel issues such as constipation. - Cognitive problems. You may experience thinking (cognitive) problems similar to those of Alzheimer's disease, such as confusion, poor attention, visual-spatial problems and memory loss. - Sleep difficulties. You may have rapid eye movement (REM) sleep behavior disorder, which can cause you to physically act out your dreams while you're asleep. - Fluctuating attention. Episodes of drowsiness, long periods of staring into space, long naps during the day or disorganized speech are possible. - Depression. You may experience depression sometime during the course of your illness. - Apathy. You may have loss of motivation. | Lewy body dementia Overview Lewy body dementia, also known as dementia with Lewy bodies, is the second most common type of progressive dementia after Alzheimer's disease dementia. Protein deposits, called Lewy bodies, develop in nerve cells in the brain regions involved in thinking, memory and movement (motor control). Lewy body dementia causes a progressive decline in mental abilities. People with Lewy body dementia may experience visual hallucinations, and changes in alertness and attention. Other effects include Parkinson's disease-like symptoms such as rigid muscles, slow movement and tremors. Lewy body dementia care at Mayo Clinic Symptoms Lewy body dementia signs and symptoms may include: - Visual hallucinations. Hallucinations may be one of the first symptoms, and they often recur. They may include seeing shapes, animals or people that aren't there. Sound (auditory), smell (olfactory) or touch (tactile) hallucinations are possible. - Movement disorders. Signs of Parkinson's disease (parkinsonian symptoms), such as slowed movement, rigid muscles, tremor or a shuffling walk may occur. - Poor regulation of body functions (autonomic nervous system). Blood pressure, pulse, sweating and the digestive process are regulated by a part of the nervous system that is often affected by Lewy body dementia. This can result in dizziness, falls and bowel issues such as constipation. - Cognitive problems. You may experience thinking (cognitive) problems similar to those of Alzheimer's disease, such as confusion, poor attention, visual-spatial problems and memory loss. - Sleep difficulties. You may have rapid eye movement (REM) sleep behavior disorder, which can cause you to physically act out your dreams while you're asleep. - Fluctuating attention. Episodes of drowsiness, long periods of staring into space, long naps during the day or disorganized speech are possible. - Depression. You may experience depression sometime during the course of your illness. - Apathy. You may have loss of motivation. Causes Lewy body dementia is characterized by the abnormal buildup of proteins into deposits known as Lewy bodies. This protein is also associated with Parkinson's disease. People who have Lewy bodies in their brains often have the plaques and tangles associated with Alzheimer's disease. Risk factors A few factors seem to increase the risk of developing Lewy body dementia, including: - Being older than 60 - Being male - Having a family member with Lewy body dementia or Parkinson's disease Research has indicated that depression is also associated with Lewy body dementia. Diagnosis A progressive decline in your ability to think is required to diagnose Lewy body dementia. In addition, two of the following core symptoms must be present: - Fluctuating and unpredictable alertness and thinking (cognitive) function - Repeated visual hallucinations - Parkinsonian symptoms - REM sleep behavior disorder, in which people act out their dreams during sleep In addition to the core symptoms of Lewy body dementia, tests for certain biomarkers can further support a diagnosis of Lewy body dementia. Biomarkers are substances in the blood that indicate the presence of a disease, such as Lewy body dementia. Right now there are no biomarkers to definitively diagnose Lewy body dementia, but some biomarkers support it. Biomarkers alone, without symptoms, aren't enough for a diagnosis. Biomarker tests to support Lewy body dementia diagnosis include: - Nuclear imaging tests such as single-photon emission computerized tomography (SPECT) and positron emission tomography (PET) - Tests that measure check nerve function of the heart's blood vessels (iodine-MIBG myocardial scintigraphy) - Sleep studies that examine brain wave activity Your doctor may also diagnose Lewy body dementia based on the presence of one core symptom and one or more of these biomarkers that support the diagnosis: - Autonomic dysfunction, which involves instability in blood pressure and heart rate, poor regulation of body temperature, sweating, and related symptoms - Feeling excessively sleepy during the daytime - Loss of the sense of smell There are several combinations of symptoms, features and biomarkers that help doctors diagnose Lewy body dementia. Depending on the combination, the diagnosis may be considered probable or possible. Doctors may also try to rule out other conditions that may cause similar signs and symptoms to support a diagnosis of Lewy body dementia. Tests may include: Neurological and physical examination Your doctor may check for signs of Parkinson's disease, strokes, tumors or other medical conditions that can affect the brain and physical function. The neurological examination may test: - Reflexes - Strength - Walking - Muscle tone - Eye movements - Balance - Sense of touch Assessment of mental abilities A short form of this test, which assesses your memory and thinking skills, can be done in less than 10 minutes in your doctor's office. It's not generally useful in distinguishing Lewy body dementia from Alzheimer's disease but can indicate dementia. Longer tests can take several hours, but help identify Lewy body dementia. Your doctor will compare your test results with those of people from a similar age and education level. This can help distinguish normal from abnormal cognitive aging, and may help diagnose the condition. Blood tests These can rule out physical problems that can affect brain function, such as vitamin B-12 deficiency or an underactive thyroid gland. Brain scans Your doctor may order an MRI, PET or CT scan to identify a stroke or bleeding, and to rule out the possibility of a tumor. While dementias are diagnosed based on the history and physical examination, certain features on imaging studies can suggest different types of dementia, such as Alzheimer's or Lewy body dementia. Your doctor may order a sleep evaluation to check for REM sleep behavior disorder or an autonomic function test to look for signs of heart rate and blood pressure instability. Treatment Treatment can be challenging, and there's no cure for Lewy body dementia. Doctors treat the individual symptoms. Medications - Cholinesterase inhibitors. These Alzheimer's disease medications, such as rivastigmine (Exelon), work by increasing the levels of chemical messengers believed to be important for memory, thought and judgment (neurotransmitters) in the brain. This can help improve alertness and cognition, and may help reduce hallucinations and other behavioral problems. Possible side effects may include gastrointestinal upset, excessive salivation and tearing, and frequent urination. These are not FDA approved for Lewy body dementia. - Parkinson's disease medications. These medications, such as carbidopa-levodopa (Sinemet) may help reduce parkinsonian symptoms, such as rigid muscles and slow movement. However, these medications may also increase confusion, hallucinations and delusions. - Medications to treat other symptoms. Your doctor may prescribe medications to treat other symptoms associated with Lewy body dementia, such as sleep or movement problems. If possible, avoid medications with anticholinergic properties, which can worsen cognition or dopamine agonists, which can cause hallucinations. First-generation antipsychotic medications, such as haloperidol (Haldol), should not be used to treat Lewy body dementia. They may cause severe confusion, severe Parkinsonism, sedation and sometimes even death. Very rarely, certain second-generation antipsychotics may be prescribed for a short time at a low dose but only if the benefits outweigh the risks. Therapies Because antipsychotic drugs can worsen Lewy body dementia symptoms, it might be helpful to initially try nondrug approaches, such as: - Tolerating the behavior. Many times a person with Lewy body dementia isn't distressed by the hallucinations. In these cases, the side effects of medication may be worse than the hallucinations themselves. - Modifying the environment. Reducing clutter and distracting noise can make it easier for someone with dementia to function. - Offering soothing responses. A caregiver's response may worsen behavior. Avoid correcting and quizzing a person with dementia. Offer reassurance and validation of his or her concerns. - Creating daily routines and keeping tasks simple. Break tasks into easier steps and focus on successes, not failures. Structure and routine during the day can be less confusing. Lifestyle and home remedies Symptoms and progression are different for everyone with Lewy body dementia. Caregivers may need to adapt the following tips to individual situations: - Speak clearly and simply. Maintain eye contact and speak slowly, in simple sentences, and don't rush the response. Present only one idea or instruction at a time. Use gestures and cues, such as pointing to objects. - Encourage exercise. Benefits of exercise include improvements in physical function, behavior and depression symptoms. Some research shows exercise may slow cognitive decline in people with dementia. - Provide mind stimulation. Participating in games, crossword puzzles and other activities that involve using thinking skills may help slow mental decline in people with dementia. - Establish a nighttime ritual. Behavior issues may worsen at night. Create calming bedtime rituals without the distraction of television, meal cleanup and active family members. Leave night lights on to prevent disorientation. Limiting caffeine during the day, discouraging daytime napping and offering opportunities for daytime exercise may help prevent nighttime restlessness. Alternative medicine Frustration and anxiety can worsen dementia symptoms. These techniques may help promote relaxation: - Music therapy, which involves listening to soothing music - Pet therapy, which involves the use of animals to improve moods and behaviors in dementia patients - Aromatherapy, which uses fragrant plant oils - Massage therapy I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated. | I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated. | {
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There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. To reduce your child's symptoms, a number of prescription medications are available, including anti-seizure medications. Children who have Tay-Sachs disease are at high risk of lung infections that cause breathing problems and frequently accumulate mucus in their lungs. Your child may need the mucus using chest physiotherapy (CPT) to help remove mucus from the lungs. Your child may have trouble swallowing, or develop respiratory problems by inhaling food or liquid into the lungs while eating. To prevent those problems, your doctor may recommend an assistive feeding device ... As the disease progresses, your child may benefit from physical therapy to help keep joints flexible and maintain as much ability to move (range of motion) as possible. Physical therapy can delay joint stiffness and reduce or delay the loss of function and pain that can result from shortened muscles. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease. | Tay-Sachs disease Overview Tay-Sachs disease is a rare disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child's brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control. Eventually, this leads to blindness, paralysis and death. If you have a family history of Tay-Sachs disease or if you're a member of a high-risk group and plan to have children, doctors strongly recommend genetic testing and genetic counseling. Symptoms In the most common form, an infant usually begins showing symptoms by about 6 months of age. Signs and symptoms of Tay-Sachs disease can include the following: - Loss of motor skills, including turning over, crawling and sitting up - Exaggerated reactions when the baby hears loud noises - Seizures - Vision and hearing loss - "Cherry-red" spots in the eyes - Muscle weakness - Movement problems When to see a doctor If your child has any of the signs or symptoms listed above, schedule an appointment with your child's doctor. Causes Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits the gene from both parents. Diagnosis To confirm that your baby has Tay-Sachs disease, your doctor will ask you about the child's symptoms and any hereditary family disorders and will order a diagnostic blood test. The blood test checks the levels of an enzyme called hexosaminidase in the child's blood. The levels are low or absent in Tay-Sachs disease. While performing a careful eye exam of your child, the doctor may see a cherry-red spot in the back of the child's eyes, which is a sign of the disease. You may need to see a pediatric neurologist and an ophthalmologist for nervous system and eye examinations. Treatment There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. The goal of treatment is support and comfort. Supportive treatments include: - Medication. To reduce your child's symptoms, a number of prescription medications are available, including anti-seizure medications. - Respiratory care. Children who have Tay-Sachs disease are at high risk of lung infections that cause breathing problems and frequently accumulate mucus in their lungs. Your child may need the mucus using chest physiotherapy (CPT) to help remove mucus from the lungs. - Feeding tubes. Your child may have trouble swallowing, or develop respiratory problems by inhaling food or liquid into the lungs while eating. To prevent those problems, your doctor may recommend an assistive feeding device such as a gastrostomy tube, which is inserted through your child's nose and goes to your child's stomach. Or, a doctor trained in stomach surgery may surgically insert an esophagogastrostomy tube. - Physical therapy. As the disease progresses, your child may benefit from physical therapy to help keep joints flexible and maintain as much ability to move (range of motion) as possible. Physical therapy can delay joint stiffness and reduce or delay the loss of function and pain that can result from shortened muscles. Potential future treatments Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease. I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned about this congenital condition, and is there a cost? If you can answer these few questions I would be thankful, please get back as soon as you can. | I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned about this congenital condition, and is there a cost? If you can answer these few questions I would be thankful, please get back as soon as you can. | {
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Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. Affected children appear to develop normally until about age 6 months. Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing. Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection. | Tay-Sachs Disease Definition Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. Affected children appear to develop normally until about age 6 months. Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing. Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired. A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group. Treatment Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. Prognosis Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection. I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned about this congenital condition, and is there a cost? If you can answer these few questions I would be thankful, please get back as soon as you can. | I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned about this congenital condition, and is there a cost? If you can answer these few questions I would be thankful, please get back as soon as you can. | {
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Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood. | Menkes syndrome Copper transport disease Hypocupremia, Congenital Kinky Hair Syndrome Menkea syndrome Menkes Disease MK MNK Steely Hair Syndrome X-linked copper deficiency Description Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. Frequency The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns. Causes Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes. Inheritance Pattern Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about one-third of cases, Menkes syndrome is caused by new mutations in the ATP7A gene. People with a new mutation do not have a history of the disorder in their family. Sources for This Page Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005 Mar 11;280(10):9640-5. Epub 2005 Jan 5. My daughter has menkes syndrome and would like to know how to go about. Thx | My daughter has menkes syndrome and would like to know how to go about. Thx | {
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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 | Menkes disease Steely hair disease Menkes kinky hair syndrome Kinky hair disease Copper transport disease Trichopoliodystrophy X-linked copper deficiency Summary Menkes disease is an inherited disorder in which the body has a problem absorbing copper. The disease affects development, both mental and physical. Causes Menkes disease is caused by a defect in the <em>ATP7A</em> gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function. Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. This kind of gene inheritance is called X-linked recessive. In some people, the disease is not inherited. Instead, the gene defect occurs after birth. Symptoms Common symptoms of Menkes disease in infants are: Brittle, kinky, steely, sparse, or tangled hair Pudgy, rosy cheeks, sagging facial skin Feeding difficulties Irritability Lack of muscle tone, floppiness Low body temperature Intellectual disability and developmental delay Seizures Skeletal changes Exams and Tests Once Menkes disease is suspected, tests that may be done include: Ceruloplasmin blood test (substance that transports copper in the blood) Copper blood test Skin cell culture X-ray of the skeleton or x-ray of the skull Gene testing to check for defect of the <em>ATP7A</em> gene Treatment Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results and depends on whether the <em>ATP7A</em> gene still has some activity. Support Groups These resources can provide more information on Menkes syndrome: National Organization for Rare Disorders -- rarediseases.org/rare-diseases/menkes-disease NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/menkes-syndrome Outlook (Prognosis) Most children with this disease die within the first few years of life. When to Contact a Medical Professional Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. Prevention See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome should be seen by a geneticist to find out if they are carriers. Review Date 5/1/2017 Updated by: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. My daughter has menkes syndrome and would like to know how to go about. Thx | My daughter has menkes syndrome and would like to know how to go about. Thx | {
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In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. | Menkes disease Steely hair disease Menkes kinky hair syndrome Kinky hair disease Copper transport disease Trichopoliodystrophy X-linked copper deficiency Summary Menkes disease is an inherited disorder in which the body has a problem absorbing copper. The disease affects development, both mental and physical. Causes Menkes disease is caused by a defect in the <em>ATP7A</em> gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function. Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. This kind of gene inheritance is called X-linked recessive. In some people, the disease is not inherited. Instead, the gene defect occurs after birth. Symptoms Common symptoms of Menkes disease in infants are: Brittle, kinky, steely, sparse, or tangled hair Pudgy, rosy cheeks, sagging facial skin Feeding difficulties Irritability Lack of muscle tone, floppiness Low body temperature Intellectual disability and developmental delay Seizures Skeletal changes Exams and Tests Once Menkes disease is suspected, tests that may be done include: Ceruloplasmin blood test (substance that transports copper in the blood) Copper blood test Skin cell culture X-ray of the skeleton or x-ray of the skull Gene testing to check for defect of the <em>ATP7A</em> gene Treatment Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results and depends on whether the <em>ATP7A</em> gene still has some activity. Support Groups These resources can provide more information on Menkes syndrome: National Organization for Rare Disorders -- rarediseases.org/rare-diseases/menkes-disease NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/menkes-syndrome Outlook (Prognosis) Most children with this disease die within the first few years of life. When to Contact a Medical Professional Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. Prevention See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome should be seen by a geneticist to find out if they are carriers. Review Date 5/1/2017 Updated by: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. My daughter has menkes syndrome and would like to know how to go about. Thx | My daughter has menkes syndrome and would like to know how to go about. Thx | {
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In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute copper in food from the intestines into the bloodstream for use in other areas. As a result, the brain and other parts of the body do not get enough copper. Copper can build up in the small intestine and kidneys, but low copper levels in other areas can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function. Menkes syndrome is inherited, which means it runs in families. 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 There is often a history of Menkes syndrome in a male relative. Signs include: - Abnormal appearance of the hair under a microscope - Abnormally low body temperature - Bleeding in the brain - Slow growth in the womb In males, all of the hairs will be abnormal. In females who carry this trait, half of them may have areas of abnormal hair. Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results. Most people with this condition die within the first few years of life. | Menkes disease Steely hair disease Menkes kinky hair syndrome Kinky hair disease Copper transport disease Trichopoliodystrophy X-linked copper deficiency Summary Menkes disease is an inherited disorder in which the body has a problem absorbing copper. The disease affects development, both mental and physical. Causes Menkes disease is caused by a defect in the <em>ATP7A</em> gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function. Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. This kind of gene inheritance is called X-linked recessive. In some people, the disease is not inherited. Instead, the gene defect occurs after birth. Symptoms Common symptoms of Menkes disease in infants are: Brittle, kinky, steely, sparse, or tangled hair Pudgy, rosy cheeks, sagging facial skin Feeding difficulties Irritability Lack of muscle tone, floppiness Low body temperature Intellectual disability and developmental delay Seizures Skeletal changes Exams and Tests Once Menkes disease is suspected, tests that may be done include: Ceruloplasmin blood test (substance that transports copper in the blood) Copper blood test Skin cell culture X-ray of the skeleton or x-ray of the skull Gene testing to check for defect of the <em>ATP7A</em> gene Treatment Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results and depends on whether the <em>ATP7A</em> gene still has some activity. Support Groups These resources can provide more information on Menkes syndrome: National Organization for Rare Disorders -- rarediseases.org/rare-diseases/menkes-disease NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/menkes-syndrome Outlook (Prognosis) Most children with this disease die within the first few years of life. When to Contact a Medical Professional Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. Prevention See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome should be seen by a geneticist to find out if they are carriers. Review Date 5/1/2017 Updated by: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. My daughter has menkes syndrome and would like to know how to go about. Thx | My daughter has menkes syndrome and would like to know how to go about. Thx | {
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Researchers have identified more than 150 mutations in the ATP7A gene that cause Menkes syndrome. 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 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. | ATP7A gene ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) ATPP1 copper pump 1 MC1 MK MNK OHS Normal Function The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The ATP7A protein is found throughout the body, except in liver cells. In the small intestine, this protein helps control the absorption of copper from food. In other cells, the ATP7A protein has a dual role and shuttles between two cellular locations. The protein normally resides in a cell structure called the Golgi apparatus, which modifies newly produced proteins, including enzymes. In the Golgi apparatus, the ATP7A protein supplies copper to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system. If copper levels in the cell environment are elevated, however, the ATP7A protein moves to the cell membrane and eliminates excess copper from the cell. Health Conditions Related to Genetic Changes Several mutations in the ATP7A gene are responsible for a condition called occipital horn syndrome or X-linked cutis laxa, which is considered a mild form of Menkes syndrome. Occipital horn syndrome is characterized by loose and sagging skin, wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints. Most of the mutations that cause occipital horn syndrome reduce but do not eliminate the production of the ATP7A protein. A shortage of this protein impairs the absorption of copper from food and prevents its normal distribution to cells throughout the body. 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 reduced activity of these enzymes underlies the characteristic features of occipital horn syndrome. Chromosomal Location Cytogenetic Location: Xq21.1, which is the long (q) arm of the X chromosome at position 21.1 Molecular Location: base pairs 77,910,656 to 78,050,395 on the X chromosome (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI) </div> Credit: Genome Decoration Page/NCBI Sources for This Page Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005 Mar 11;280(10):9640-5. Epub 2005 Jan 5. My daughter has menkes syndrome and would like to know how to go about. Thx | My daughter has menkes syndrome and would like to know how to go about. Thx | {
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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. Medicines including digoxin, calcium-channel blockers, and beta-blockers may be used in people with atrial fibrillation. 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. | Cardiac amyloidosis Amyloidosis - cardiac Primary cardiac amyloidosis - AL type Secondary cardiac amyloidosis - AA type Stiff heart syndrome Senile 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. 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. 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 Exams and Tests The signs of cardiac amyloidosis can be related to a number of different conditions. This can make the problem hard to diagnose. Signs may include: Abnormal sounds in the lung (lung crackles) or a heart murmur Blood pressure that is low or drops when you stand up Enlarged neck veins Swollen liver The following tests may be done: Chest or abdomen CT scan (considered the "gold standard" to help diagnose this condition) Coronary angiography Electrocardiogram (ECG) Echocardiogram Magnetic resonance imaging (MRI) Nuclear heart scans (MUGA, RNV) Positron emission tomography (PET) An ECG may show problems with the heartbeat or heart signals. It may also show low signals (called "low voltage"). A cardiac biopsy is used to confirm the diagnosis. A biopsy of another area, such as the abdomen, kidney, or bone marrow, is often done as well. 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. 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. Possible Complications Complications may 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 (due to medicine) Sick sinus syndrome Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle) When to Contact a Medical Professional Call your provider if you have this disorder and develop new symptoms such as: Dizziness when you change position Excessive weight (fluid) gain Excessive weight loss Fainting spells Severe breathing problems Review Date 5/16/2018 Updated by: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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. | 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. | {
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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 | Cardiac amyloidosis Amyloidosis - cardiac Primary cardiac amyloidosis - AL type Secondary cardiac amyloidosis - AA type Stiff heart syndrome Senile 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. 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. 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 Exams and Tests The signs of cardiac amyloidosis can be related to a number of different conditions. This can make the problem hard to diagnose. Signs may include: Abnormal sounds in the lung (lung crackles) or a heart murmur Blood pressure that is low or drops when you stand up Enlarged neck veins Swollen liver The following tests may be done: Chest or abdomen CT scan (considered the "gold standard" to help diagnose this condition) Coronary angiography Electrocardiogram (ECG) Echocardiogram Magnetic resonance imaging (MRI) Nuclear heart scans (MUGA, RNV) Positron emission tomography (PET) An ECG may show problems with the heartbeat or heart signals. It may also show low signals (called "low voltage"). A cardiac biopsy is used to confirm the diagnosis. A biopsy of another area, such as the abdomen, kidney, or bone marrow, is often done as well. 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. 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. Possible Complications Complications may 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 (due to medicine) Sick sinus syndrome Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle) When to Contact a Medical Professional Call your provider if you have this disorder and develop new symptoms such as: Dizziness when you change position Excessive weight (fluid) gain Excessive weight loss Fainting spells Severe breathing problems Review Date 5/16/2018 Updated by: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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. | 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. | {
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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. | Cardiac amyloidosis Amyloidosis - cardiac Primary cardiac amyloidosis - AL type Secondary cardiac amyloidosis - AA type Stiff heart syndrome Senile 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. 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. 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 Exams and Tests The signs of cardiac amyloidosis can be related to a number of different conditions. This can make the problem hard to diagnose. Signs may include: Abnormal sounds in the lung (lung crackles) or a heart murmur Blood pressure that is low or drops when you stand up Enlarged neck veins Swollen liver The following tests may be done: Chest or abdomen CT scan (considered the "gold standard" to help diagnose this condition) Coronary angiography Electrocardiogram (ECG) Echocardiogram Magnetic resonance imaging (MRI) Nuclear heart scans (MUGA, RNV) Positron emission tomography (PET) An ECG may show problems with the heartbeat or heart signals. It may also show low signals (called "low voltage"). A cardiac biopsy is used to confirm the diagnosis. A biopsy of another area, such as the abdomen, kidney, or bone marrow, is often done as well. 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. 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. Possible Complications Complications may 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 (due to medicine) Sick sinus syndrome Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle) When to Contact a Medical Professional Call your provider if you have this disorder and develop new symptoms such as: Dizziness when you change position Excessive weight (fluid) gain Excessive weight loss Fainting spells Severe breathing problems Review Date 5/16/2018 Updated by: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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. | 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. | {
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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) | Cardiac amyloidosis Amyloidosis - cardiac Primary cardiac amyloidosis - AL type Secondary cardiac amyloidosis - AA type Stiff heart syndrome Senile 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. 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. 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 Exams and Tests The signs of cardiac amyloidosis can be related to a number of different conditions. This can make the problem hard to diagnose. Signs may include: Abnormal sounds in the lung (lung crackles) or a heart murmur Blood pressure that is low or drops when you stand up Enlarged neck veins Swollen liver The following tests may be done: Chest or abdomen CT scan (considered the "gold standard" to help diagnose this condition) Coronary angiography Electrocardiogram (ECG) Echocardiogram Magnetic resonance imaging (MRI) Nuclear heart scans (MUGA, RNV) Positron emission tomography (PET) An ECG may show problems with the heartbeat or heart signals. It may also show low signals (called "low voltage"). A cardiac biopsy is used to confirm the diagnosis. A biopsy of another area, such as the abdomen, kidney, or bone marrow, is often done as well. 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. 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. Possible Complications Complications may 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 (due to medicine) Sick sinus syndrome Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle) When to Contact a Medical Professional Call your provider if you have this disorder and develop new symptoms such as: Dizziness when you change position Excessive weight (fluid) gain Excessive weight loss Fainting spells Severe breathing problems Review Date 5/16/2018 Updated by: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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. | 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. | {
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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. | Cardiac amyloidosis Amyloidosis - cardiac Primary cardiac amyloidosis - AL type Secondary cardiac amyloidosis - AA type Stiff heart syndrome Senile 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. 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. 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 Exams and Tests The signs of cardiac amyloidosis can be related to a number of different conditions. This can make the problem hard to diagnose. Signs may include: Abnormal sounds in the lung (lung crackles) or a heart murmur Blood pressure that is low or drops when you stand up Enlarged neck veins Swollen liver The following tests may be done: Chest or abdomen CT scan (considered the "gold standard" to help diagnose this condition) Coronary angiography Electrocardiogram (ECG) Echocardiogram Magnetic resonance imaging (MRI) Nuclear heart scans (MUGA, RNV) Positron emission tomography (PET) An ECG may show problems with the heartbeat or heart signals. It may also show low signals (called "low voltage"). A cardiac biopsy is used to confirm the diagnosis. A biopsy of another area, such as the abdomen, kidney, or bone marrow, is often done as well. 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. 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. Possible Complications Complications may 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 (due to medicine) Sick sinus syndrome Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle) When to Contact a Medical Professional Call your provider if you have this disorder and develop new symptoms such as: Dizziness when you change position Excessive weight (fluid) gain Excessive weight loss Fainting spells Severe breathing problems Review Date 5/16/2018 Updated by: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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. | 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. | {
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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. 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 is more common in men than in women. The disease is rare in people under age 40. 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 inflammation. | Cardiac amyloidosis Amyloidosis - cardiac Primary cardiac amyloidosis - AL type Secondary cardiac amyloidosis - AA type Stiff heart syndrome Senile 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. 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. 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 Exams and Tests The signs of cardiac amyloidosis can be related to a number of different conditions. This can make the problem hard to diagnose. Signs may include: Abnormal sounds in the lung (lung crackles) or a heart murmur Blood pressure that is low or drops when you stand up Enlarged neck veins Swollen liver The following tests may be done: Chest or abdomen CT scan (considered the "gold standard" to help diagnose this condition) Coronary angiography Electrocardiogram (ECG) Echocardiogram Magnetic resonance imaging (MRI) Nuclear heart scans (MUGA, RNV) Positron emission tomography (PET) An ECG may show problems with the heartbeat or heart signals. It may also show low signals (called "low voltage"). A cardiac biopsy is used to confirm the diagnosis. A biopsy of another area, such as the abdomen, kidney, or bone marrow, is often done as well. 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. 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. Possible Complications Complications may 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 (due to medicine) Sick sinus syndrome Symptomatic cardiac conduction system disease (arrhythmias related to abnormal conduction of impulses through the heart muscle) When to Contact a Medical Professional Call your provider if you have this disorder and develop new symptoms such as: Dizziness when you change position Excessive weight (fluid) gain Excessive weight loss Fainting spells Severe breathing problems Review Date 5/16/2018 Updated by: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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. | 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. | {
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There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. 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. 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. 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 certain medications (particularly calcium channel-blocking drugs that can cause increased leg swelling in some people | Milroy disease Hereditary lymphedema Congenital hereditary lymphedema Early onset lymphedema Hereditary lymphedema Congenital hereditary lymphedema Early onset lymphedema Hereditary lymphedema 1 Primary congenital lymphedema Nonne-Milroy syndrome Nonne-Milroy disease Milroy's disease Nonne’s syndrome Congenital primary lymphedema Hereditary lymphedema type I Nonne-Milroy lymphedema See More Summary Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes ( mutations ) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. [1] Treatment may include lymphedema therapy to improve function and alleviate symptoms. [2] Symptoms The most common symptom of Milroy disease is build-up of fluids ( lymphedema) in the lower limbs, which is usually present from birth or before birth. [2] However, the degree and distribution of swelling varies among affected people. [3] It sometimes progresses, but may improve in some cases. Other signs and symptoms may include hydrocele and/or urethral abnormalities in males; prominent veins; upslanting toenails; papillomatosis (development of wart-like growths); and cellulitis. Cellulitis may cause additional swelling. [2] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Abnormality of the amniotic fluid 0001560 Abnormality of the nail 0001597 Autosomal dominant inheritance 0000006 Congenital onset Symptoms present at birth 0003577 Hemangioma Strawberry mark 0001028 Hydrocele testis 0000034 Hyperkeratosis over edematous areas 0007448 Hypoplasia of lymphatic vessels Underdeveloped lymphatic vessels 0003759 Nonimmune hydrops fetalis 0001790 Predominantly lower limb lymphedema 0003550 Showing of Inheritance Milroy disease is inherited in an autosomal dominant manner. This means that having one changed ( mutated ) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most people with Milroy disease have an affected parent, but some cases are due to new mutations that occur for the first time in the affected person. About 10-15% of people with a mutation in the responsible gene do not develop features of the condition. This phenomenon is called reduced penetrance . [2] Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Management is typically conservative and usually successful in most people. [3] The goal of treatment is to reduce swelling and prevent complications. Management of lymphedema should be guided by a lymphedema therapist. Complete decongestive therapy (CDT) may be used for manual lymph drainage combined with compression bandaging, skin care, exercise, and well-fitted compression garments. [4] Some improvement is usually possible using these methods. [2] Various surgical techniques (to reduce swelling by creating new pathways for lymphatic fluid to flow) have been tried, but with limited success. [4] To prevent cellulitis, foot infections (such as athlete's foot) should be treated promptly and prevented, and prophylactic antibiotics may be needed in recurrent cases. [2] [3] When possible, people with Milroy disease should try to avoid w 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] Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. 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 | 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 | {
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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. Swelling varies in degree and distribution, and can be disabling and disfiguring. For some people the outlook depends on how chronic the lymphedema is, as well as whether complications arise. However, Milroy disease is rarely associated with significant complications. The degree of edema sometimes progresses, but in some cases can improve (particularly in early years). 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. | Milroy disease Hereditary lymphedema Congenital hereditary lymphedema Early onset lymphedema Hereditary lymphedema Congenital hereditary lymphedema Early onset lymphedema Hereditary lymphedema 1 Primary congenital lymphedema Nonne-Milroy syndrome Nonne-Milroy disease Milroy's disease Nonne’s syndrome Congenital primary lymphedema Hereditary lymphedema type I Nonne-Milroy lymphedema See More Summary Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes ( mutations ) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. [1] Treatment may include lymphedema therapy to improve function and alleviate symptoms. [2] Symptoms The most common symptom of Milroy disease is build-up of fluids ( lymphedema) in the lower limbs, which is usually present from birth or before birth. [2] However, the degree and distribution of swelling varies among affected people. [3] It sometimes progresses, but may improve in some cases. Other signs and symptoms may include hydrocele and/or urethral abnormalities in males; prominent veins; upslanting toenails; papillomatosis (development of wart-like growths); and cellulitis. Cellulitis may cause additional swelling. [2] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Abnormality of the amniotic fluid 0001560 Abnormality of the nail 0001597 Autosomal dominant inheritance 0000006 Congenital onset Symptoms present at birth 0003577 Hemangioma Strawberry mark 0001028 Hydrocele testis 0000034 Hyperkeratosis over edematous areas 0007448 Hypoplasia of lymphatic vessels Underdeveloped lymphatic vessels 0003759 Nonimmune hydrops fetalis 0001790 Predominantly lower limb lymphedema 0003550 Showing of Inheritance Milroy disease is inherited in an autosomal dominant manner. This means that having one changed ( mutated ) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most people with Milroy disease have an affected parent, but some cases are due to new mutations that occur for the first time in the affected person. About 10-15% of people with a mutation in the responsible gene do not develop features of the condition. This phenomenon is called reduced penetrance . [2] Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Management is typically conservative and usually successful in most people. [3] The goal of treatment is to reduce swelling and prevent complications. Management of lymphedema should be guided by a lymphedema therapist. Complete decongestive therapy (CDT) may be used for manual lymph drainage combined with compression bandaging, skin care, exercise, and well-fitted compression garments. [4] Some improvement is usually possible using these methods. [2] Various surgical techniques (to reduce swelling by creating new pathways for lymphatic fluid to flow) have been tried, but with limited success. [4] To prevent cellulitis, foot infections (such as athlete's foot) should be treated promptly and prevented, and prophylactic antibiotics may be needed in recurrent cases. [2] [3] When possible, people with Milroy disease should try to avoid w 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] Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. 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 | 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 | {
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Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with other features in addition to lymphedema. Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs. | Milroy disease congenital familial lymphedema hereditary lymphedema type I Milroy's disease Nonne-Milroy lymphedema Description Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs. Frequency Milroy disease is a rare disorder; its incidence is unknown. Causes Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of cells that line the lymphatic vessels (lymphatic endothelial cells). These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder. Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these individuals, the cause of the disorder is unknown. Inheritance Pattern Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in people with no history of the disorder in their family. About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop the features of Milroy disease. Sources for This Page Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42(2):98-102. Review. 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 | 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 | {
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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. | Ellis-van Creveld syndrome Chondroectodermal dysplasia EVC Summary Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth. Causes Ellis-van Creveld is passed down through families (inherited). It is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes (<em>EVC</em> and <em>EVC2</em>). These genes are positioned next to each other on the same chromosome. The severity of the disease varies from person to person. The highest rate of the condition is seen among the Old Order Amish population of Lancaster County, Pennsylvania. It is fairly rare in the general population. Symptoms Symptoms may include: Cleft lip or palate Epispadias or undescended testicle (cryptorchidism) Extra fingers (polydactyly) Limited range of motion Nail problems, including missing or deformed nails Short arms and legs, especially forearm and lower leg Short height, between 3.5 to 5 feet (1 to 1.5 meters) tall Sparse, absent, or fine textured hair Tooth abnormalities, such as peg teeth, widely-spaced teeth Teeth present at birth (natal teeth) Delayed or missing teeth Exams and Tests Signs of this condition include: Growth hormone deficiency Heart defects, such as a hole in the heart (atrial septal defect), occur in about half of all cases Tests include: Chest x-ray Echocardiogram Genetic testing may be performed for mutations in one of the two EVC genes Skeletal x-ray Ultrasound Urinalysis 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. Support Groups Many communities have EVC support groups. Ask your health care provider or local hospital if there is one in your area. Outlook (Prognosis) Many babies with this condition die in early infancy. Most often this is due to a small chest or heart defect. Stillbirth is common. The outcome depends on which body system is involved and to what extent that body system is involved. Like many genetic conditions involving bones or the physical structure, intelligence is normal. Possible Complications Complications may include: Bone abnormalities Breathing difficulty Congenital heart disease (CHD) especially atrial septal defect (ASD) Kidney disease When to Contact a Medical Professional Call your provider if your child has symptoms of this syndrome. If you have a family history of EVC syndrome and your child has any symptoms, visit your provider. Genetic counseling can help families understand the condition and how to care for the person. Prevention Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of EVC syndrome. Review Date 8/6/2017 Updated by: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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 | 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 | {
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More than 25 mutations in the EVC gene have been reported to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, abnormal nails and teeth, and heart defects. | EVC gene DWF-1 Ellis van Creveld protein Ellis van Creveld syndrome Ellis van Creveld syndrome protein EVC1 EVC_HUMAN EVCL Normal Function The EVC gene provides instructions for making a protein whose function is unclear. However, it appears to be important for normal growth and development, particularly the development of bones and teeth. The EVC protein is found in primary cilia, which are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. In particular, the EVC protein is thought to help regulate a signaling pathway known as Sonic Hedgehog, which plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body. EVC and another gene, EVC2, are located very close together on chromosome 4. Researchers believe that the two genes may have related functions and that their activity may be coordinated. Health Conditions Related to Genetic Changes More than 25 mutations in the EVC gene have been reported to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, abnormal nails and teeth, and heart defects. The mutations that cause this condition occur in both copies of the EVC gene in each cell. These genetic changes disrupt the normal function of the EVC protein or lead to the production of an abnormally small, nonfunctional version of the protein. Although it is unclear how the loss of this protein's function underlies the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent normal Sonic Hedgehog signaling in the developing embryo. Problems with this signaling pathway may ultimately lead to the abnormal bone growth and heart defects seen with this condition. Chromosomal Location Cytogenetic Location: 4p16.2, which is the short (p) arm of chromosome 4 at position 16.2 Molecular Location: base pairs 5,711,197 to 5,829,043 on chromosome 4 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI) </div> Credit: Genome Decoration Page/NCBI Sources for This Page Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. BMC Biol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14. 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 | 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 | {
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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. | Ellis-van Creveld syndrome chondroectodermal dysplasia Ellis-van Creveld dysplasia 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. Frequency In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia. Causes Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body. The mutations that cause Ellis-van Creveld syndrome result in the production of an abnormally small, nonfunctional version of the EVC or EVC2 protein. It is unclear how the defective proteins lead to the specific signs and symptoms of this condition. Studies suggest that they prevent normal Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the bones, teeth, and other parts of the body. Together, mutations in the EVC and EVC2 genes account for more than half of all cases of Ellis-van Creveld syndrome. The cause of the remaining cases is unknown. Inheritance Pattern This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sources for This Page Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2007 Jun 4;2:27. Review. 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 | 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 | {
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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. | Nephrotic syndrome Nephrosis Summary Nephrotic syndrome is a group of symptoms that include protein in the urine, low blood protein levels in the blood, high cholesterol levels, high triglyceride levels, increased blood clot risk, and swelling. Causes 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. Symptoms Swelling (edema) is the most common symptom. It may occur: In the face and around the eyes (facial swelling) In the arms and legs, especially in the feet and ankles In the belly area (swollen abdomen) Other symptoms include: Skin rash or sores Foamy appearance of the urine Poor appetite Weight gain (unintentional) from fluid retention Seizures Exams and Tests The health care provider will perform a physical exam. Laboratory tests will be done to see how well the kidneys are working. They include: Albumin blood test Blood chemistry tests, such as basic metabolic panel or comprehensive metabolic panel Blood urea nitrogen (BUN) Creatinine - blood test Creatinine clearance - urine test Urinalysis Fats are often also present in the urine. Blood cholesterol and triglyceride levels may be high. A kidney biopsy may be needed to find the cause of the disorder. Tests to rule out various causes may include the following: Antinuclear antibody Cryoglobulins Complement levels Glucose tolerance test Hepatitis B and C antibodies HIV test Rheumatoid factor Serum protein electrophoresis (SPEP) Syphilis serology Urine protein electrophoresis (UPEP) This disease may also change the results of the following tests: Vitamin D level Serum iron Urinary casts 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-sodium 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 provider may suggest a moderate-protein diet (1 gram of protein per kilogram 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. Outlook (Prognosis) Outcome varies. Some people recover from the condition. Others develop long-term kidney disease and need dialysis and eventually a kidney transplant. Possible Complications Health problems that may result from nephrotic syndrome include: Acute kidney failure Hardening of the arteries and related heart diseases Chronic kidney disease Fluid overload, heart failure, fluid buildup in lungs Infections, including pneumococcal pneumonia Malnutrition Renal vein thrombosis When to Contact a Medical Professional Call your provider if: You develop symptoms of nephrotic syndrome, including swelling in face, belly, or arms and legs, or skin sores You're being treated for nephrotic syndrome, but your symptoms don't improve New symptoms develop, including cough, decreased urine output, discomfort with urination, fever, severe headache Go to the emergency room or call the local emergency number (such as 911) if you have seizures. Prevention Treating conditions that can cause nephrotic syndrome may help prevent the syndrome. Review Date 8/1/2017 Updated by: Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. What is Nephrotic Syndrome. What are its causes and cures? | What is Nephrotic Syndrome. What are its causes and cures? | {
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Nephrotic syndrome is caused by different disorders that damage the kidneys. This damage leads to the release of too much protein in the urine. 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. | Nephrotic syndrome Nephrosis Summary Nephrotic syndrome is a group of symptoms that include protein in the urine, low blood protein levels in the blood, high cholesterol levels, high triglyceride levels, increased blood clot risk, and swelling. Causes 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. Symptoms Swelling (edema) is the most common symptom. It may occur: In the face and around the eyes (facial swelling) In the arms and legs, especially in the feet and ankles In the belly area (swollen abdomen) Other symptoms include: Skin rash or sores Foamy appearance of the urine Poor appetite Weight gain (unintentional) from fluid retention Seizures Exams and Tests The health care provider will perform a physical exam. Laboratory tests will be done to see how well the kidneys are working. They include: Albumin blood test Blood chemistry tests, such as basic metabolic panel or comprehensive metabolic panel Blood urea nitrogen (BUN) Creatinine - blood test Creatinine clearance - urine test Urinalysis Fats are often also present in the urine. Blood cholesterol and triglyceride levels may be high. A kidney biopsy may be needed to find the cause of the disorder. Tests to rule out various causes may include the following: Antinuclear antibody Cryoglobulins Complement levels Glucose tolerance test Hepatitis B and C antibodies HIV test Rheumatoid factor Serum protein electrophoresis (SPEP) Syphilis serology Urine protein electrophoresis (UPEP) This disease may also change the results of the following tests: Vitamin D level Serum iron Urinary casts 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-sodium 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 provider may suggest a moderate-protein diet (1 gram of protein per kilogram 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. Outlook (Prognosis) Outcome varies. Some people recover from the condition. Others develop long-term kidney disease and need dialysis and eventually a kidney transplant. Possible Complications Health problems that may result from nephrotic syndrome include: Acute kidney failure Hardening of the arteries and related heart diseases Chronic kidney disease Fluid overload, heart failure, fluid buildup in lungs Infections, including pneumococcal pneumonia Malnutrition Renal vein thrombosis When to Contact a Medical Professional Call your provider if: You develop symptoms of nephrotic syndrome, including swelling in face, belly, or arms and legs, or skin sores You're being treated for nephrotic syndrome, but your symptoms don't improve New symptoms develop, including cough, decreased urine output, discomfort with urination, fever, severe headache Go to the emergency room or call the local emergency number (such as 911) if you have seizures. Prevention Treating conditions that can cause nephrotic syndrome may help prevent the syndrome. Review Date 8/1/2017 Updated by: Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. What is Nephrotic Syndrome. What are its causes and cures? | What is Nephrotic Syndrome. What are its causes and cures? | {
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X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness ( reduced visual acuity), severe nearsightedness (myopia), nystagmus , and strabismus . Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. | X-linked congenital stationary night blindness X-linked CSNB Congenital stationary night blindness with myopia Hemeralopia-myopia X-linked CSNB Congenital stationary night blindness with myopia Hemeralopia-myopia Myopia-night blindness See More Summary X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness ( reduced visual acuity), severe nearsightedness (myopia), nystagmus , and strabismus . Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. [1] Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 30%-79% of people have these symptoms Abnormality of macular pigmentation 0008002 High myopia Severe near sightedness Severely close sighted Severely near sighted 0011003 Nyctalopia Night blindness Night-blindness Poor night vision 0000662 Optic disc hypoplasia 0007766 Reduced visual acuity Decreased clarity of vision 0007663 5%-29% of people have these symptoms Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Strabismus Cross-eyed Squint Squint eyes 0000486 Percent of people who have these symptoms is not available through HPO Congenital stationary night blindness Night blindness since birth 0007642 Hemeralopia Day blindness 0012047 Myopia Close sighted Near sighted Near sightedness Nearsightedness 0000545 X-linked inheritance 0001417 X-linked recessive inheritance 0001419 Showing of Diagnosis Yes. About 45% of individuals with XLCSNB have the complete form, which is caused by mutations in the NYX gene . The other 55% have the incomplete form, which is caused by mutations in the CACNA1F gene. [2] The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. When and how do you know when you have congenital night blindness? | When and how do you know when you have congenital night blindness? | {
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Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time. | Autosomal recessive congenital stationary night blindness autosomal recessive complete congenital stationary night blindness autosomal recessive incomplete congenital stationary night blindness Description Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time. Frequency Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown. Causes Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low light, to cells called bipolar cells, which relay the signals to other retinal cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain. Mutations in two genes, GRM6 and TRPM1, cause most cases of this condition. These genes provide instructions for making proteins that are necessary for bipolar cells to receive and relay signals. Mutations in other genes involved in the same bipolar cell signaling pathway are likely responsible for a small percentage of cases of autosomal recessive congenital stationary night blindness. Gene mutations that cause autosomal recessive congenital stationary night blindness disrupt the transmission of visual signals between rod cells and bipolar cells or interfere with the bipolar cells' ability to pass on these signals. As a result, visual information received by rod cells cannot be effectively transmitted to the brain, leading to difficulty seeing in low light. The cause of the other vision problems associated with this condition is unclear. It has been suggested that the mechanisms that underlie night blindness can interfere with other visual systems, causing myopia, reduced visual acuity, and other impairments. Some people with autosomal recessive congenital stationary night blindness have no identified mutation in any of the known genes. The cause of the disorder in these individuals is unknown. Inheritance Pattern This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sources for This Page Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Said S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Leveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209. When and how do you know when you have congenital night blindness? | When and how do you know when you have congenital night blindness? | {
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Gene mutations that cause autosomal recessive congenital stationary night blindness disrupt the transmission of visual signals between rod cells and bipolar cells or interfere with the bipolar cells' ability to pass on these signals. As a result, visual information received by rod cells cannot be effectively transmitted to the brain, leading to difficulty seeing in low light. The cause of the other vision problems associated with this condition is unclear. It has been suggested that the mechanisms that underlie night blindness can interfere with other visual systems, causing myopia, reduced visual acuity, and other impairments. Some people with autosomal recessive congenital stationary night blindness have no identified mutation in any of the known genes. The cause of the disorder in these individuals is unknown. | Autosomal recessive congenital stationary night blindness autosomal recessive complete congenital stationary night blindness autosomal recessive incomplete congenital stationary night blindness Description Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time. Frequency Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown. Causes Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low light, to cells called bipolar cells, which relay the signals to other retinal cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain. Mutations in two genes, GRM6 and TRPM1, cause most cases of this condition. These genes provide instructions for making proteins that are necessary for bipolar cells to receive and relay signals. Mutations in other genes involved in the same bipolar cell signaling pathway are likely responsible for a small percentage of cases of autosomal recessive congenital stationary night blindness. Gene mutations that cause autosomal recessive congenital stationary night blindness disrupt the transmission of visual signals between rod cells and bipolar cells or interfere with the bipolar cells' ability to pass on these signals. As a result, visual information received by rod cells cannot be effectively transmitted to the brain, leading to difficulty seeing in low light. The cause of the other vision problems associated with this condition is unclear. It has been suggested that the mechanisms that underlie night blindness can interfere with other visual systems, causing myopia, reduced visual acuity, and other impairments. Some people with autosomal recessive congenital stationary night blindness have no identified mutation in any of the known genes. The cause of the disorder in these individuals is unknown. Inheritance Pattern This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sources for This Page Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Said S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Leveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209. When and how do you know when you have congenital night blindness? | When and how do you know when you have congenital night blindness? | {
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Oleander poisoning occurs when someone eats the flowers or chews the leaves or stems of the oleander plant (Nerium oleander), or its relative, the yellow oleander (Cascabela thevetia). If you or someone you are with has an exposure, call your local emergency number (such as 911), or your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. You should call if you have any questions about poisoning or poison prevention. It does not need to be an emergency. You can call for any reason, 24 hours a day, 7 days a week. Oleander poisoning can affect many parts of the body. HEART AND BLOOD - Irregular or slow heartbeat - Low blood pressure - Weakness EYES, EARS, NOSE, MOUTH, AND THROAT - Blurred vision - Vision disturbances, including halos STOMACH AND INTESTINES - Diarrhea - Loss of appetite - Nausea and vomiting - Stomach pain NERVOUS SYSTEM - Confusion - Death - Depression - Disorientation - Dizziness - Drowsiness - Fainting - Headache - Lethargy SKIN - Hives - Rash Note: Depression, loss of appetite, and halos are most often seen in chronic overdose cases. The faster you get medical help, the better the chance for recovery. Symptoms last for 1 to 3 days and may require a hospital stay. Death is unlikely. | Oleander poisoning Rosebay poisoning Yellow oleander poisoning Thevetia peruviana poisoning Summary Oleander poisoning occurs when someone eats the flowers or chews the leaves or stems of the oleander plant (<em>Nerium oleander</em>), or its relative, the yellow oleander (<em>Cascabela thevetia</em>). This article is for information only. DO NOT use it to treat or manage an actual poison exposure. If you or someone you are with has an exposure, call your local emergency number (such as 911), or your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. Poisonous Ingredient Poisonous ingredients include: Digitoxigenin Neriin Oleandrin Oleondroside <strong>Note:</strong> This list may not include all poisonous ingredients. Where Found The poisonous substances are found in all parts of the oleander plant: Flowers Leaves Stems Twigs Symptoms Oleander poisoning can affect many parts of the body. HEART AND BLOOD Irregular or slow heartbeat Low blood pressure Weakness EYES, EARS, NOSE, MOUTH, AND THROAT Blurred vision Vision disturbances, including halos STOMACH AND INTESTINES Diarrhea Loss of appetite Nausea and vomiting Stomach pain NERVOUS SYSTEM Confusion Death Depression Disorientation Dizziness Drowsiness Fainting Headache Lethargy SKIN Hives Rash <strong>Note:</strong> Depression, loss of appetite, and halos are most often seen in chronic overdose cases. Home Care Seek immediate medical help. DO NOT make a person throw up unless told to do so by poison control or a health care provider. Before Calling Emergency Get the following information: Person's age, weight, and condition Name and part of the plant swallowed, if known Time it was swallowed Amount swallowed Poison Control Your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. This hotline number will let you talk to experts in poisoning. They will give you further instructions. This is a free and confidential service. All local poison control centers in the United States use this national number. You should call if you have any questions about poisoning or poison prevention. It does not need to be an emergency. You can call for any reason, 24 hours a day, 7 days a week. What to Expect at the Emergency Room The provider will measure and monitor the person's vital signs, including temperature, pulse, breathing rate, and blood pressure. Symptoms will be treated as appropriate. The person may receive: Activated charcoal Blood and urine tests Breathing support Chest x-ray ECG (electrocardiogram, or heart tracing) Fluids through a vein (IV) Medicines to treat symptoms including an antidote to reverse the effects of the poison Tube through the mouth into the stomach to wash out the stomach (gastric lavage) Outlook (Prognosis) How well you do depends on the amount of poison swallowed and how quickly treatment is received. The faster you get medical help, the better the chance for recovery. Symptoms last for 1 to 3 days and may require a hospital stay. Death is unlikely. DO NOT touch or eat any plant with which you are not familiar. Wash your hands after working in the garden or walking in the woods. Review Date 10/16/2017 Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | {
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Oleander poisoning can affect many parts of the body. HEART AND BLOOD - Irregular or slow heartbeat - Low blood pressure - Weakness EYES, EARS, NOSE, MOUTH, AND THROAT - Blurred vision - Vision disturbances, including halos STOMACH AND INTESTINES - Diarrhea - Loss of appetite - Nausea and vomiting - Stomach pain NERVOUS SYSTEM - Confusion - Death - Depression - Disorientation - Dizziness - Drowsiness - Fainting - Headache - Lethargy SKIN - Hives - Rash Note: Depression, loss of appetite, and halos are most often seen in chronic overdose cases. | Oleander poisoning Rosebay poisoning Yellow oleander poisoning Thevetia peruviana poisoning Summary Oleander poisoning occurs when someone eats the flowers or chews the leaves or stems of the oleander plant (<em>Nerium oleander</em>), or its relative, the yellow oleander (<em>Cascabela thevetia</em>). This article is for information only. DO NOT use it to treat or manage an actual poison exposure. If you or someone you are with has an exposure, call your local emergency number (such as 911), or your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. Poisonous Ingredient Poisonous ingredients include: Digitoxigenin Neriin Oleandrin Oleondroside <strong>Note:</strong> This list may not include all poisonous ingredients. Where Found The poisonous substances are found in all parts of the oleander plant: Flowers Leaves Stems Twigs Symptoms Oleander poisoning can affect many parts of the body. HEART AND BLOOD Irregular or slow heartbeat Low blood pressure Weakness EYES, EARS, NOSE, MOUTH, AND THROAT Blurred vision Vision disturbances, including halos STOMACH AND INTESTINES Diarrhea Loss of appetite Nausea and vomiting Stomach pain NERVOUS SYSTEM Confusion Death Depression Disorientation Dizziness Drowsiness Fainting Headache Lethargy SKIN Hives Rash <strong>Note:</strong> Depression, loss of appetite, and halos are most often seen in chronic overdose cases. Home Care Seek immediate medical help. DO NOT make a person throw up unless told to do so by poison control or a health care provider. Before Calling Emergency Get the following information: Person's age, weight, and condition Name and part of the plant swallowed, if known Time it was swallowed Amount swallowed Poison Control Your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. This hotline number will let you talk to experts in poisoning. They will give you further instructions. This is a free and confidential service. All local poison control centers in the United States use this national number. You should call if you have any questions about poisoning or poison prevention. It does not need to be an emergency. You can call for any reason, 24 hours a day, 7 days a week. What to Expect at the Emergency Room The provider will measure and monitor the person's vital signs, including temperature, pulse, breathing rate, and blood pressure. Symptoms will be treated as appropriate. The person may receive: Activated charcoal Blood and urine tests Breathing support Chest x-ray ECG (electrocardiogram, or heart tracing) Fluids through a vein (IV) Medicines to treat symptoms including an antidote to reverse the effects of the poison Tube through the mouth into the stomach to wash out the stomach (gastric lavage) Outlook (Prognosis) How well you do depends on the amount of poison swallowed and how quickly treatment is received. The faster you get medical help, the better the chance for recovery. Symptoms last for 1 to 3 days and may require a hospital stay. Death is unlikely. DO NOT touch or eat any plant with which you are not familiar. Wash your hands after working in the garden or walking in the woods. Review Date 10/16/2017 Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | {
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The faster you get medical help, the better the chance for recovery. Symptoms last for 1 to 3 days and may require a hospital stay. Death is unlikely. | Oleander poisoning Rosebay poisoning Yellow oleander poisoning Thevetia peruviana poisoning Summary Oleander poisoning occurs when someone eats the flowers or chews the leaves or stems of the oleander plant (<em>Nerium oleander</em>), or its relative, the yellow oleander (<em>Cascabela thevetia</em>). This article is for information only. DO NOT use it to treat or manage an actual poison exposure. If you or someone you are with has an exposure, call your local emergency number (such as 911), or your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. Poisonous Ingredient Poisonous ingredients include: Digitoxigenin Neriin Oleandrin Oleondroside <strong>Note:</strong> This list may not include all poisonous ingredients. Where Found The poisonous substances are found in all parts of the oleander plant: Flowers Leaves Stems Twigs Symptoms Oleander poisoning can affect many parts of the body. HEART AND BLOOD Irregular or slow heartbeat Low blood pressure Weakness EYES, EARS, NOSE, MOUTH, AND THROAT Blurred vision Vision disturbances, including halos STOMACH AND INTESTINES Diarrhea Loss of appetite Nausea and vomiting Stomach pain NERVOUS SYSTEM Confusion Death Depression Disorientation Dizziness Drowsiness Fainting Headache Lethargy SKIN Hives Rash <strong>Note:</strong> Depression, loss of appetite, and halos are most often seen in chronic overdose cases. Home Care Seek immediate medical help. DO NOT make a person throw up unless told to do so by poison control or a health care provider. Before Calling Emergency Get the following information: Person's age, weight, and condition Name and part of the plant swallowed, if known Time it was swallowed Amount swallowed Poison Control Your local poison center can be reached directly by calling the national toll-free Poison Help hotline (1-800-222-1222) from anywhere in the United States. This hotline number will let you talk to experts in poisoning. They will give you further instructions. This is a free and confidential service. All local poison control centers in the United States use this national number. You should call if you have any questions about poisoning or poison prevention. It does not need to be an emergency. You can call for any reason, 24 hours a day, 7 days a week. What to Expect at the Emergency Room The provider will measure and monitor the person's vital signs, including temperature, pulse, breathing rate, and blood pressure. Symptoms will be treated as appropriate. The person may receive: Activated charcoal Blood and urine tests Breathing support Chest x-ray ECG (electrocardiogram, or heart tracing) Fluids through a vein (IV) Medicines to treat symptoms including an antidote to reverse the effects of the poison Tube through the mouth into the stomach to wash out the stomach (gastric lavage) Outlook (Prognosis) How well you do depends on the amount of poison swallowed and how quickly treatment is received. The faster you get medical help, the better the chance for recovery. Symptoms last for 1 to 3 days and may require a hospital stay. Death is unlikely. DO NOT touch or eat any plant with which you are not familiar. Wash your hands after working in the garden or walking in the woods. Review Date 10/16/2017 Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | If oleandor was ingested by touching the plant stems inner part and then directly eating without washing hands, how long would u exspect symptoms would start? And how severe would you say symptoms may get. | {
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Optic atrophy type 1 is caused by mutations in the OPA1 gene. Mutations in the OPA1 gene lead to problems with mitochondrial function. The mitochondria become misshapen and disorganized and have reduced energy-producing capabilities. The maintenance of mtDNA may also be impaired, resulting in mtDNA mutations that further interfere with mitochondrial energy production. Cells that contain these poorly functioning mitochondria are more susceptible to apoptosis. In particular, cells that have high energy demands, such as retinal ganglion cells, die over time. Specialized extensions of retinal ganglion cells, called axons, form the optic nerves, so when retinal ganglion cells die, the optic nerves atrophy and cannot transmit visual information to the brain. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | Optic atrophy type 1 ADOA autosomal dominant optic atrophy autosomal dominant optic atrophy Kjer type DOA dominant optic atrophy Kjer type optic atrophy Kjer's optic atrophy optic atrophy, autosomal dominant optic atrophy, hereditary, autosomal dominant optic atrophy, juvenile optic atrophy, Kjer type Description Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness. In addition to vision loss, people with optic atrophy type 1 frequently have problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green. In the early stages of the condition, individuals with optic atrophy type 1 experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eye to the brain (optic nerves), which results in further vision loss. Atrophy causes these nerves to have an abnormally pale appearance (pallor), which can be seen during an eye examination. Frequency Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people. Causes Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in cells and tissues throughout the body. The OPA1 protein is found within mitochondria, which are the energy-producing centers of cells. The protein plays a key role in the organization of the shape and structure of the mitochondria and in controlled cell death (apoptosis). The OPA1 protein is also involved in a process called oxidative phosphorylation, from which cells derive much of their energy. Additionally, the protein plays a role in the maintenance of the DNA within mitochondria, called mitochondrial DNA (mtDNA). Mutations in the OPA1 gene lead to problems with mitochondrial function. The mitochondria become misshapen and disorganized and have reduced energy-producing capabilities. The maintenance of mtDNA may also be impaired, resulting in mtDNA mutations that further interfere with mitochondrial energy production. Cells that contain these poorly functioning mitochondria are more susceptible to apoptosis. In particular, cells that have high energy demands, such as retinal ganglion cells, die over time. Specialized extensions of retinal ganglion cells, called axons, form the optic nerves, so when retinal ganglion cells die, the optic nerves atrophy and cannot transmit visual information to the brain. Inheritance Pattern This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In rare cases, people who have an OPA1 gene mutation do not develop optic atrophy type 1, a situation known as reduced penetrance. Sources for This Page Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1. 2007 Jul 13 [updated 2015 Nov 12]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1248/ Is optic atrophy ginetic and what cause it? | Is optic atrophy ginetic and what cause it? | {
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Many causes of optic nerve atrophy cannot be prevented. Prevention steps include: - Older adults should have their provider carefully manage their blood pressure. - Use standard safety precautions to prevent injuries to the face. - Schedule a routine annual eye exam to check for glaucoma. - Methanol, which is found in home-brewed alcohol, can cause optic nerve atrophy in both eyes. | Optic nerve atrophy Optic atrophy Optic neuropathy Summary Optic nerve atrophy is damage to the optic nerve. The optic nerve carries images of what the eye sees to the brain. Causes There are many causes of optic atrophy. The most common is poor blood flow. This is called ischemic optic neuropathy. The problem most often affects older adults. The optic nerve can also be damaged by shock, toxins, radiation, and trauma. Eye diseases, such as glaucoma, can also cause a form of optic nerve atrophy. The condition can also be caused by diseases of the brain and central nervous system. These may include: Brain tumor Cranial arteritis (sometimes called temporal arteritis) Multiple sclerosis Stroke There are also rare forms of hereditary optic nerve atrophy that affect children and young adults. Symptoms Optic nerve atrophy causes vision to dim and reduces the field of vision. The ability to see fine detail will also be lost. Colors will seem faded. Over time, the pupil will be less able to react to light, and eventually, its ability to react to light may be lost. Exams and Tests The health care provider will do a complete eye exam to look for the condition. The exam will include tests of: Color vision Pupil light reflex Tonometry Visual acuity You may also need a complete physical exam and other tests. Treatment Damage from optic nerve atrophy cannot be reversed. The underlying disease must be found and treated. Otherwise, vision loss will continue. Rarely, conditions that lead to optic atrophy may be treatable. Outlook (Prognosis) Vision lost to optic nerve atrophy cannot be recovered. It is very important to protect the other eye. When to Contact a Medical Professional People with this condition need to be checked regularly by an eye doctor with experience in nerve-related conditions. Tell your doctor right away about any change in vision. Prevention Many causes of optic nerve atrophy cannot be prevented. Prevention steps include: Older adults should have their provider carefully manage their blood pressure. Use standard safety precautions to prevent injuries to the face. Most facial injuries are the result of car accidents. Wearing seat belts may help prevent these injuries. Schedule a routine annual eye exam to check for glaucoma. Never drink home-brewed alcohol and forms of alcohol that are not intended for drinking. Methanol, which is found in home-brewed alcohol, can cause optic nerve atrophy in both eyes. Review Date 8/20/2016 Updated by: Franklin W. Lusby, MD, ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Is optic atrophy ginetic and what cause it? | Is optic atrophy ginetic and what cause it? | {
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Optic atrophy 1 ... is usually caused by mutations in the OPA1 gene , although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. | Optic atrophy 1 OPA1 Optic atrophy, juvenile Kjer-type optic atrophy OPA1 Optic atrophy, juvenile Kjer-type optic atrophy Optic atrophy, Kjer type OAK Optic atrophy type 1 Autosomal dominant optic atrophy, classic form See More Summary Optic atrophy 1, also known as optic atrophy type 1 is a disease that affects the optic nerve. The optic nerve carries signals from the eye to the brain about what is seen. People with optic atrophy type 1 have an optic nerve that has lost some tissue ( atrophy). This atrophy causes the optic nerve not to work as well as it should, which affects the vision. Signs and symptoms of optic atrophy type 1 include vision loss, difficulty distinguishing colors, and an abnormally pale appearance (pallor) of the optic nerve. The vision loss typically begins at age 4-6 years-old. The disease can occur in people of any ethnicity but seems to be more common in people of Danish descent. [1] Other symptoms of optic atrophy type 1 may include sensorineural hearing loss , difficulty coordinating movements ( ataxia ) and muscle disease ( myopathy). When people have optic atrophy type 1 and signs and symptoms other than vision loss, it is known as autosomal dominant optic atrophy plus syndrome. [1] Optic atrophy type 1 is caused by a genetic change (pathogenic variant or mutation ) in the OPA1 gene . The disease is inherited in an autosomal dominant manner. Optic atrophy type 1 may be suspected when a person has signs and symptoms of the disease on an exam done by an ophthalmologist . Genetic testing may be used to confirm the diagnosis. Treatment for optic atrophy type 1 may include vision and hearing aids when necessary. [1] [2] Symptoms The signs and symptoms of optic atrophy type 1 include changes in vision. People with the disease typically have vision loss that begins between 4-6 years-old. The vision loss typically affects both eyes and can cause a person to have a range of vision loss from mild to being legally blind. People with optic atrophy type 1 may experience narrowing of the visual field (tunnel vision). [1] [2] Vision loss may worsen as people with the disease get older. Optic atrophy type 1 can also cause a change in color vision, making it difficult to distinguish between blue and yellow colors (tritanopia). [1] Other signs and symptoms of optic atrophy type 1 may affect other parts of the body. People who have signs and symptoms other than vision loss have autosomal dominant optic atrophy plus syndrome. Some people with the disease may have hearing loss that is caused by damage to the nerves in the ears ( sensorineural hearing loss ). In severe cases, the hearing loss may be present from birth ( congenital ), but in other cases it may not be noticeable until a person undergoes a hearing evaluation. Other signs and symptoms of the disease may include difficulty coordinating movements ( ataxia ) and muscle disease ( myopathy). [1] The signs and symptoms of optic atrophy type 1 can vary widely, even among people in the same family. For example, some people may have severe vision loss, hearing loss, and muscle weakness, while other people may only have mild vision loss. This wide variation of signs and symptoms of the disease is called variable expressivity . In some cases, people with a genetic change (pathogenic variant or mutation ) in the OPA1 gene may not have any signs of optic atrophy type 1 at all. This is called reduced penetrance . [1] [2] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 1%-4% of people have these symptoms Ataxia 0001251 Horizontal nystagmus 0000666 Progressive external ophthalmoplegia 0000590 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Strabismus Cross-eyed Squint Squint eyes 0000486 Percent of people who have these symptoms is not available through HPO Abnormal amplitude of pattern reversal visual evoked potentials 0000650 Autosomal dominant inheritance 0000006 Central scotoma Central blind spot 0000603 Centrocecal scotoma 0000576 Incomplete penetrance 0003829 Insidious onset Gradual onset 0003587 Optic atrophy 0000648 Pallor 0000980 Red-green dyschromatopsia Red green color blindness 0000642 Reduced visual acuity Decreased clarity of vision 0007663 Tritanomaly Blue yellow color blindness 0000552 Showing of Cause Optic atrophy type 1 is caused by a change (pathogenic variant or mutation ) in the OPA1 gene . This gene provides instructions to the body to make a protein that helps the mitochondria function correctly. Mitochondria are the parts of the cell that help the cell produce energy. The protein that is created by the OPA1 gene helps the mitochondria maintain a normal shape and structure. Therefore, this protein is important in helping mitochondria create energy for the cells to use. The protein also has a role in the process called programmed cell death ( apoptosis ). [2] When there is a pathogenic variant in the OPA1 gene, there is not enough functioning protein to help the mitochondria maintain the normal shape and structure. This causes the mitochondria to not produce enough energy for cells. It also causes cells to undergo cell death earlier than they should. When cells of the eyes do not receive enough energy and undergo cell death earlier than they should, it causes loss of tissue in parts of the eye called the retina and the optic nerve. These parts of the eye transmit signals from the eyes to the brain so that we can see. Loss of cells in the retina and optic nerve cause the signs and symptoms of optic atrophy type 1. [2] In some cases, people with optic atrophy type 1 do not have a pathogenic variant in the OPA1 gene that is found on genetic testing . In these cases, the exact cause of the disease is unknown. [3] Inheritance Optic atrophy type 1 is inherited in an autosomal dominant manner. [1] This means that having a genetic change (pathogenic variant or mutation ) in one copy of the OPA1 gene can cause the signs and symptoms of optic atrophy type 1. We inherit one copy of the OPA1 gene from our mother and the other from our father. When a person with a pathogenic variant in OPA1 has children, for each child there is a: 50% chance to inherit the changed copy of OPA1 50% chance to inherit the working copy of OPA1 When a person has a pathogenic variant in the OPA1 gene, it can be difficult to predict the signs and symptoms that the person may have. This is because the signs and symptoms of optic atrophy type 1 can vary, even among members of the same family ( variable expressivity ). In addition, some people with pathogenic variants in OPA1 do not have any signs or symptoms of optic atrophy type 1 at all ( reduced penetrance ). [1] In most cases, people with optic atrophy type 1 inherit the pathogenic variant in OPA1 from one of their parents. This parent may have different signs and symptoms of the disease than other family members, or the parent may not have any signs or symptoms of the disease at all. [1] It is not known why there is such a wide variation of signs and symptoms that can be associated with optic atrophy type 1. It may be that there are genetic and environmental factors that influence the signs and symptoms of the disease. [4] In some cases, a pathogenic variant in the OPA1 gene occurs for the first time in the person diagnosed with optic atrophy type 1, and it was not inherited from either parent. Pathogenic variants that are occurring for the first time are called de novo . [1] People who have questions about the chances for other family members to have optic atrophy type 1 may wish to speak with a genetic counselor . Diagnosis Optic atrophy type 1 may be suspected when a person has signs and symptoms of the disease including vision loss beginning in childhood, loss of color vision affecting blue and yellow colors (tritanopia), and findings of loss of tissue of the optic nerve ( optic atrophy) on an exam by an ophthalmologist . A doctor may take a medical history and family history , as people with optic atrophy type 1 may have other signs and symptoms of the disease or other family members with signs and symptoms. The diagnosis can be confirmed with genetic testing of the OPA1 gene . [1] Treatment Treatment for optic atrophy type 1 typically includes regular exams by an ophthalmologist , including measuring vision and color vision, and regular evaluation by an audiologist . Vision aids such as glasses, contact lenses, and magnifiers may be used to help treat vision loss. Cochlear implants may help improve hearing in people who have sensorineural hearing loss . [1] Some people with optic atrophy type 1 have shown improvement in vision after being treated with idebenone. However, more research is needed to determine how effective this medication is in treating the disease. [3] [5] People with optic atrophy type 1 may be recommended to avoid alcohol intake and certain medications, as these can impact the function of mitochondria in the cells . [1] Prognosis In general, people with optic atrophy type 1 have worsening vision loss over time. However, some people only have mild vision loss, and for some people the vision loss does not worsen with time. Vision loss can interfere with daily life, but it is not expected to shorten a person's lifespan. [4] The long-term outlook for people with optic atrophy type 1 may depend on the severity of vision loss and if there are any other symptoms, such as hearing loss or muscle weakness. About 20% of people with a genetic change (pathogenic variant or mutation ) in the OPA1 gene have symptoms other than vision loss. [4] In some cases, people with optic atrophy type 1 may experience anxiety and depression due to the symptoms of the disease. [4] It is important to contact your doctor if you have concerns that you or a family member is suffering from anxiety or depression. Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. Related Diseases Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet Differential diagnosis includes all the common causes of optic neuropathies: compressive, inflammatory, ischemic, toxic and metabolic causes. Other hereditary optic neuropathies such as leber hereditary optic neuropathy, Wolfram syndrome (see these terms) have different initial presentations (later in life, associated or not with other neurological or systemic signs), but the final clinical phenotype of optic neuropathy is not specific. Visit the Orphanet disease page for more information. Is optic atrophy ginetic and what cause it? | Is optic atrophy ginetic and what cause it? | {
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Anyone can get arthritis, but it occurs more often in women and is most common in older people. Genes, environmental factors, and hormones may play roles in the development of rheumatoid arthritis. | Rheumatoid Arthritis What is it? Points To Remember About Rheumatoid Arthritis What is rheumatoid arthritis? Rheumatoid arthritis is a disease that causes pain, swelling, and stiffness in your joints. This disease often occurs in more than one joint and can affect any joint in the body. If you have this disease, you may feel sick and tired, and sometimes get fevers.Anyone can get rheumatoid arthritis, but it occurs more often in women and is most common in older people.Genes, environmental factors, and hormones may play roles in the development of rheumatoid arthritis.Treatment may involve medicine, surgery, and alternative therapies.Regular rest, joint care, activity, a healthy diet, and reduced stress can ease symptoms.Rheumatoid arthritis is a disease that affects your joints. Joints are where two or more bones join together, such as at your knees, hips, or shoulders. Rheumatoid arthritis causes pain, swelling, and stiffness. If joints on one side of your body have rheumatoid arthritis, usually those joints on the other side do too. This disease often occurs in more than one joint. It can affect any joint in the body.If you have this disease, you also may feel sick and tired, and sometimes get fevers. Rheumatoid arthritis is a disease that causes pain, swelling, and stiffness in your joints. This disease often occurs in more than one joint and can affect any joint in the body. If you have this disease, you may feel sick and tired, and sometimes get fevers.Anyone can get rheumatoid arthritis, but it occurs more often in women and is most common in older people.Genes, environmental factors, and hormones may play roles in the development of rheumatoid arthritis.Treatment may involve medicine, surgery, and alternative therapies.Regular rest, joint care, activity, a healthy diet, and reduced stress can ease symptoms. Rheumatoid arthritis is a disease that causes pain, swelling, and stiffness in your joints. This disease often occurs in more than one joint and can affect any joint in the body. If you have this disease, you may feel sick and tired, and sometimes get fevers.Anyone can get rheumatoid arthritis, but it occurs more often in women and is most common in older people.Genes, environmental factors, and hormones may play roles in the development of rheumatoid arthritis.Treatment may involve medicine, surgery, and alternative therapies.Regular rest, joint care, activity, a healthy diet, and reduced stress can ease symptoms.Rheumatoid arthritis is a disease that affects your joints. Joints are where two or more bones join together, such as at your knees, hips, or shoulders. Rheumatoid arthritis causes pain, swelling, and stiffness. If joints on one side of your body have rheumatoid arthritis, usually those joints on the other side do too. This disease often occurs in more than one joint. It can affect any joint in the body.If you have this disease, you also may feel sick and tired, and sometimes get fevers. Who gets it? Who gets rheumatoid arthritis? Anyone can get this disease, though it occurs more often in women. Rheumatoid arthritis often starts in middle age and is common in older people. But children and young adults can also get it.Anyone can get this disease, though it occurs more often in women. Rheumatoid arthritis often starts in middle age and is common in older people. But children and young adults can also get it. What causes it? What causes rheumatoid arthritis? Doctors don't know the exact cause of rheumatoid arthritis. They know that with this type of arthritis, a person's immune system attacks his or her own body tissues. The immune system normally attacks invaders to the body, such as a cold virus or bacteria. Researchers are learning many things about why and how this happens. Things that may cause rheumatoid arthritis are: Genes (passed from parent to child).Environmental factors.Hormones.Doctors don't know the exact cause of rheumatoid arthritis. They know that with this type of arthritis, a person's immune system attacks his or her own body tissues. The immune system normally attacks invaders to the body, such as a cold virus or bacteria. Researchers are learning many things about why and how this happens. Things that may cause rheumatoid arthritis are: Genes (passed from parent to child).Environmental factors.Hormones.Doctors don't know the exact cause of rheumatoid arthritis. They know that with this type of arthritis, a person's immune system attacks his or her own body tissues. The immune system normally attacks invaders to the body, such as a cold virus or bacteria. Researchers are learning many things about why and how this happens. Things that may cause rheumatoid arthritis are: Genes (passed from parent to child).Environmental factors.Hormones. Is there a test? Is there a test for rheumatoid arthritis? Rheumatoid arthritis can be hard to diagnose because: There is no single test for the disease.The symptoms can be the same as in other kinds of joint disease.The full symptoms can take time to develop.To diagnose rheumatoid arthritis, doctors use medical history, a physical exam, x-rays and other imaging tests, and lab tests.Rheumatoid arthritis can be hard to diagnose because: There is no single test for the disease.The symptoms can be the same as in other kinds of joint disease.The full symptoms can take time to develop.To diagnose rheumatoid arthritis, doctors use medical history, a physical exam, x-rays and other imaging tests, and lab tests.Rheumatoid arthritis can be hard to diagnose because: There is no single test for the disease.The symptoms can be the same as in other kinds of joint disease.The full symptoms can take time to develop.To diagnose rheumatoid arthritis, doctors use medical history, a physical exam, x-rays and other imaging tests, and lab tests. How is it treated? How is rheumatoid arthritis treated? Doctors have many ways to treat rheumatoid arthritis. Treatment may involve: Medicine.Surgery.Regular doctor visits.Complementary therapies.The goals of treatment are to: Take away pain.Reduce swelling.Slow down or stop joint damage.Help you feel better.Help you stay active. <h3>Medicine</h3> Most people with rheumatoid arthritis take medicine. Drugs can be used for pain relief, to reduce swelling, and to stop the disease from getting worse. What a doctor prescribes depends on: Your general health.How serious the rheumatoid arthritis is.How serious the rheumatoid arthritis may become.How long you will take the drug.How well the drug works.Possible side effects. <h3>How is it treated?</h3> <h3>Surgery</h3> There are many kinds of surgery for people with a lot of joint damage. Surgery may: Reduce your pain.Help your joint work better.Help you be able to do daily activities.Surgery is not for everyone. Talk with your doctor to decide what is best for you. <h3>Regular Doctor Visits</h3> Regular medical care is important so doctors can: See if the disease is getting worse.See if drugs are helping.Discuss any drug side effects.Change treatment when needed. <h3>Complementary Therapies</h3> Special diets, vitamins, and other complementary therapies are sometimes suggested to treat rheumatoid arthritis. Many of these treatments are not harmful, but they may not be well tested or have any real benefits.Ask your doctor about things you can do to manage your pain, such as exercise programs, support groups, and education classes. Before starting any complementary therapy, talk with your doctor to make sure it isn't harmful.Doctors have many ways to treat rheumatoid arthritis. Treatment may involve: Medicine.Surgery.Regular doctor visits.Complementary therapies.The goals of treatment are to: Take away pain.Reduce swelling.Slow down or stop joint damage.Help you feel better.Help you stay active. <h3>Medicine</h3> Most people with rheumatoid arthritis take medicine. Drugs can be used for pain relief, to reduce swelling, and to stop the disease from getting worse. What a doctor prescribes depends on: Your general health.How serious the rheumatoid arthritis is.How serious the rheumatoid arthritis may become.How long you will take the drug.How well the drug works.Possible side effects. <h3>How is it treated?</h3> <h3>Surgery</h3> There are many kinds of surgery for people with a lot of joint damage. Surgery may: Reduce your pain.Help your joint work better.Help you be able to do daily activities.Surgery is not for everyone. Talk with your doctor to decide what is best for you. <h3>Regular Doctor Visits</h3> Regular medical care is important so doctors can: See if the disease is getting worse.See if drugs are helping.Discuss any drug side effects.Change treatment when needed. <h3>Complementary Therapies</h3> Special diets, vitamins, and other complementary therapies are sometimes suggested to treat rheumatoid arthritis. Many of these treatments are not harmful, but they may not be well tested or have any real benefits.Ask your doctor about things you can do to manage your pain, such as exercise programs, support groups, and education classes. Before starting any complementary therapy, talk with your doctor to make sure it isn't harmful.Doctors have many ways to treat rheumatoid arthritis. Treatment may involve: Medicine.Surgery.Regular doctor visits.Complementary therapies.The goals of treatment are to: Take away pain.Reduce swelling.Slow down or stop joint damage.Help you feel better.Help you stay active. <h3>Medicine</h3> Most people with rheumatoid arthritis take medicine. Drugs can be used for pain relief, to reduce swelling, and to stop the disease from getting worse. What a doctor prescribes depends on: Your general health.How serious the rheumatoid arthritis is.How serious the rheumatoid arthritis may become.How long you will take the drug.How well the drug works.Possible side effects. <h3>How is it treated?</h3> <h3>Surgery</h3> There are many kinds of surgery for people with a lot of joint damage. Surgery may: Reduce your pain.Help your joint work better.Help you be able to do daily activities.Surgery is not for everyone. Talk with your doctor to decide what is best for you. <h3>Regular Doctor Visits</h3> Regular medical care is important so doctors can: See if the disease is getting worse.See if drugs are helping.Discuss any drug side effects.Change treatment when needed. <h3>Complementary Therapies</h3> Special diets, vitamins, and other complementary therapies are sometimes suggested to treat rheumatoid arthritis. Many of these treatments are not harmful, but they may not be well tested or have any real benefits.Ask your doctor about things you can do to manage your pain, such as exercise programs, support groups, and education classes. Before starting any complementary therapy, talk with your doctor to make sure it isn't harmful. Who treats it? Who treats rheumatoid arthritis? Several types of health care professionals may treat you, including: Internist, who diagnoses and treats adults.Rheumatologist, who treats arthritis and other disease of the bones, joints, and muscles.Orthopaedists, who treat and perform surgery for bone and joint diseases.Physical therapists, who help to improve joint function.Occupational therapists, who teach ways to protect joints, reduce pain, perform activities of daily living, and conserve energy.Dietitians, who teach ways to use a good diet to improve health and maintain a healthy weight.Several types of health care professionals may treat you, including: Internist, who diagnoses and treats adults.Rheumatologist, who treats arthritis and other disease of the bones, joints, and muscles.Orthopaedists, who treat and perform surgery for bone and joint diseases.Physical therapists, who help to improve joint function.Occupational therapists, who teach ways to protect joints, reduce pain, perform activities of daily living, and conserve energy.Dietitians, who teach ways to use a good diet to improve health and maintain a healthy weight.Several types of health care professionals may treat you, including: Internist, who diagnoses and treats adults.Rheumatologist, who treats arthritis and other disease of the bones, joints, and muscles.Orthopaedists, who treat and perform surgery for bone and joint diseases.Physical therapists, who help to improve joint function.Occupational therapists, who teach ways to protect joints, reduce pain, perform activities of daily living, and conserve energy.Dietitians, who teach ways to use a good diet to improve health and maintain a healthy weight. Living with It Living with rheumatoid arthritis With rheumatoid arthritis, you can still lead a full life. Besides going to your doctor and therapists regularly, you can also do these activities to help reduce your symptoms. <h3>Joint Care</h3> Look for ways to reduce stress on your joints. Some people find wearing a splint around a painful joint for a short time helps. Talk with your doctor to see if a splint may work for you. In addition, some special equipment can help such as a zipper puller or long-handled shoe horn. <h3>Rest</h3> Keep a good balance between rest and activity. Try to take frequent breaks, especially when your symptoms are bothering you. <h3>Lowering Stress</h3> Try to lower your stress by taking the time to relax, doing hobbies you enjoy, or joining a support group. Support groups can reduce your stress by helping you to: Learn about the disease.Cope with your emotions about your symptoms.Feel more control over the disease.Build confidence. <h3>A Healthy Diet</h3> Eat a healthy diet which will help you manage your weight and get a variety of nutrients for overall health.With rheumatoid arthritis, you can still lead a full life. Besides going to your doctor and therapists regularly, you can also do these activities to help reduce your symptoms. <h3>Joint Care</h3> Look for ways to reduce stress on your joints. Some people find wearing a splint around a painful joint for a short time helps. Talk with your doctor to see if a splint may work for you. In addition, some special equipment can help such as a zipper puller or long-handled shoe horn. <h3>Rest</h3> Keep a good balance between rest and activity. Try to take frequent breaks, especially when your symptoms are bothering you. <h3>Lowering Stress</h3> Try to lower your stress by taking the time to relax, doing hobbies you enjoy, or joining a support group. Support groups can reduce your stress by helping you to: Learn about the disease.Cope with your emotions about your symptoms.Feel more control over the disease.Build confidence. <h3>A Healthy Diet</h3> Eat a healthy diet which will help you manage your weight and get a variety of nutrients for overall health. Other Medical Problems Other medical problems related to rheumatoid arthritis You may also experience other health problems as a result of your rheumatoid arthritis. Be sure to talk with your doctor if any of these occur.Many people with rheumatoid arthritis may also have: Anemia, a condition in which your blood has a lower than normal count of red blood cells.Depression.Anxiety.Other effects that occur less often include: Neck pain.Dry eyes.Dry mouth.Very rarely, people may have inflammation of their: Blood vessels.Lining of the lungs.Sac enclosing the heart.You may also experience other health problems as a result of your rheumatoid arthritis. Be sure to talk with your doctor if any of these occur.Many people with rheumatoid arthritis may also have: Anemia, a condition in which your blood has a lower than normal count of red blood cells.Depression.Anxiety.Other effects that occur less often include: Neck pain.Dry eyes.Dry mouth.Very rarely, people may have inflammation of their: Blood vessels.Lining of the lungs.Sac enclosing the heart. Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | {
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Rheumatoid arthritis can occur at any age, but it most commonly begins between the ages of 40 and 60. Factors that may increase your risk of rheumatoid arthritis include: - Your sex. Women are more likely than men to develop rheumatoid arthritis. -Family history. If a member of your family has rheumatoid arthritis, you may have an increased risk of the disease. - Smoking. Cigarette smoking increases your risk of developing rheumatoid arthritis, particularly if you have a genetic predisposition for developing the disease. Smoking also appears to be associated with greater disease severity. - Environmental exposures. Although uncertain and poorly understood, some exposures such as asbestos or silica may increase the risk for developing rheumatoid arthritis. - Obesity. People who are overweight or obese appear to be at somewhat higher risk of developing rheumatoid arthritis, especially in women diagnosed with the disease when they were 55 or younger. | Rheumatoid arthritis Overview Rheumatoid arthritis is a chronic inflammatory disorder that can affect more than just your joints. In some people, the condition also can damage a wide variety of body systems, including the skin, eyes, lungs, heart and blood vessels. An autoimmune disorder, rheumatoid arthritis occurs when your immune system mistakenly attacks your own body's tissues. Unlike the wear-and-tear damage of osteoarthritis, rheumatoid arthritis affects the lining of your joints, causing a painful swelling that can eventually result in bone erosion and joint deformity. The inflammation associated with rheumatoid arthritis is what can damage other parts of the body as well. While new types of medications have improved treatment options dramatically, severe rheumatoid arthritis can still cause physical disabilities. Symptoms Signs and symptoms of rheumatoid arthritis may include: - Tender, warm, swollen joints - Joint stiffness that is usually worse in the mornings and after inactivity - Fatigue, fever and weight loss Early rheumatoid arthritis tends to affect your smaller joints first - particularly the joints that attach your fingers to your hands and your toes to your feet. As the disease progresses, symptoms often spread to the wrists, knees, ankles, elbows, hips and shoulders. In most cases, symptoms occur in the same joints on both sides of your body. About 40 percent of the people who have rheumatoid arthritis also experience signs and symptoms that don't involve the joints. Rheumatoid arthritis can affect many nonjoint structures, including: - Skin - Eyes - Lungs - Heart - Kidneys - Salivary glands - Nerve tissue - Bone marrow - Blood vessels Rheumatoid arthritis signs and symptoms may vary in severity and may even come and go. Periods of increased disease activity, called flares, alternate with periods of relative remission - when the swelling and pain fade or disappear. Over time, rheumatoid arthritis can cause joints to deform and shift out of place. Make an appointment with your doctor if you have persistent discomfort and swelling in your joints. Causes Rheumatoid arthritis occurs when your immune system attacks the synovium - the lining of the membranes that surround your joints. The resulting inflammation thickens the synovium, which can eventually destroy the cartilage and bone within the joint. The tendons and ligaments that hold the joint together weaken and stretch. Gradually, the joint loses its shape and alignment. Doctors don't know what starts this process, although a genetic component appears likely. While your genes don't actually cause rheumatoid arthritis, they can make you more susceptible to environmental factors - such as infection with certain viruses and bacteria - that may trigger the disease. Risk factors Factors that may increase your risk of rheumatoid arthritis include: - Your sex. Women are more likely than men to develop rheumatoid arthritis. - Age. Rheumatoid arthritis can occur at any age, but it most commonly begins between the ages of 40 and 60. - Family history. If a member of your family has rheumatoid arthritis, you may have an increased risk of the disease. - Smoking. Cigarette smoking increases your risk of developing rheumatoid arthritis, particularly if you have a genetic predisposition for developing the disease. Smoking also appears to be associated with greater disease severity. - Environmental exposures. Although uncertain and poorly understood, some exposures such as asbestos or silica may increase the risk for developing rheumatoid arthritis. Emergency workers exposed to dust from the collapse of the World Trade Center are at higher risk of autoimmune diseases such as rheumatoid arthritis. - Obesity. People who are overweight or obese appear to be at somewhat higher risk of developing rheumatoid arthritis, especially in women diagnosed with the disease when they were 55 or younger. Diagnosis Rheumatoid arthritis can be difficult to diagnose in its early stages because the early signs and symptoms mimic those of many other diseases. There is no one blood test or physical finding to confirm the diagnosis. During the physical exam, your doctor will check your joints for swelling, redness and warmth. He or she may also check your reflexes and muscle strength. Blood tests People with rheumatoid arthritis often have an elevated erythrocyte sedimentation rate (ESR, or sed rate) or C-reactive protein (CRP), which may indicate the presence of an inflammatory process in the body. Other common blood tests look for rheumatoid factor and anti-cyclic citrullinated peptide (anti-CCP) antibodies. Imaging tests Your doctor may recommend X-rays to help track the progression of rheumatoid arthritis in your joints over time. MRI and ultrasound tests can help your doctor judge the severity of the disease in your body. Treatment There is no cure for rheumatoid arthritis. But recent discoveries indicate that remission of symptoms is more likely when treatment begins early with strong medications known as disease-modifying antirheumatic drugs (DMARDs). Medications The types of medications recommended by your doctor will depend on the severity of your symptoms and how long you've had rheumatoid arthritis. - NSAIDs. Nonsteroidal anti-inflammatory drugs (NSAIDs) can relieve pain and reduce inflammation. Over-the-counter NSAIDs include ibuprofen (Advil, Motrin IB) and naproxen sodium (Aleve). Stronger NSAIDs are available by prescription. Side effects may include ringing in your ears, stomach irritation, heart problems, and liver and kidney damage. - Steroids. Corticosteroid medications, such as prednisone, reduce inflammation and pain and slow joint damage. Side effects may include thinning of bones, weight gain and diabetes. Doctors often prescribe a corticosteroid to relieve acute symptoms, with the goal of gradually tapering off the medication. - Disease-modifying antirheumatic drugs (DMARDs). These drugs can slow the progression of rheumatoid arthritis and save the joints and other tissues from permanent damage. Common DMARDs include methotrexate (Trexall, Otrexup, Rasuvo), leflunomide (Arava), hydroxychloroquine (Plaquenil) and sulfasalazine (Azulfidine). Side effects vary but may include liver damage, bone marrow suppression and severe lung infections. - Biologic agents. Also known as biologic response modifiers, this newer class of DMARDs includes abatacept (Orencia), adalimumab (Humira), anakinra (Kineret), certolizumab (Cimzia), etanercept (Enbrel), golimumab (Simponi), infliximab (Remicade), rituximab (Rituxan), tocilizumab (Actemra) and tofacitinib (Xeljanz). These drugs can target parts of the immune system that trigger inflammation that causes joint and tissue damage. These types of drugs also increase the risk of infections. Biologic DMARDs are usually most effective when paired with a nonbiologic DMARD, such as methotrexate. Therapy Your doctor may send you to a physical or occupational therapist who can teach you exercises to help keep your joints flexible. The therapist may also suggest new ways to do daily tasks, which will be easier on your joints. For example, if your fingers are sore, you may want to pick up an object using your forearms. Assistive devices can make it easier to avoid stressing your painful joints. For instance, a kitchen knife equipped with a saw handle helps protect your finger and wrist joints. Certain tools, such as buttonhooks, can make it easier to get dressed. Catalogs and medical supply stores are good places to look for ideas. Surgery If medications fail to prevent or slow joint damage, you and your doctor may consider surgery to repair damaged joints. Surgery may help restore your ability to use your joint. It can also reduce pain and correct deformities. Rheumatoid arthritis surgery may involve one or more of the following procedures: - Synovectomy. Surgery to remove the inflamed synovium (lining of the joint). Synovectomy can be performed on knees, elbows, wrists, fingers and hips. - Tendon repair. Inflammation and joint damage may cause tendons around your joint to loosen or rupture. Your surgeon may be able to repair the tendons around your joint. - Joint fusion. Surgically fusing a joint may be recommended to stabilize or realign a joint and for pain relief when a joint replacement isn't an option. - Total joint replacement. During joint replacement surgery, your surgeon removes the damaged parts of your joint and inserts a prosthesis made of metal and plastic. Surgery carries a risk of bleeding, infection and pain. Discuss the benefits and risks with your doctor. Lifestyle and home remedies You can take steps to care for your body if you have rheumatoid arthritis. These self-care measures, when used along with your rheumatoid arthritis medications, can help you manage your signs and symptoms: - Exercise regularly. Gentle exercise can help strengthen the muscles around your joints, and it can help fight fatigue you might feel. Check with your doctor before you start exercising. If you're just getting started, begin by taking a walk. Try swimming or gentle water aerobics. Avoid exercising tender, injured or severely inflamed joints. - Apply heat or cold. Heat can help ease your pain and relax tense, painful muscles. Cold may dull the sensation of pain. Cold also has a numbing effect and decreases muscle spasms. - Relax. Find ways to cope with pain by reducing stress in your life. Techniques such as guided imagery, distraction and muscle relaxation can all be used to control pain. Alternative medicine Some common complementary and alternative treatments that have shown promise for rheumatoid arthritis include: - Fish oil. Some preliminary studies have found that fish oil supplements may reduce rheumatoid arthritis pain and stiffness. Side effects can include nausea, belching and a fishy taste in the mouth. Fish oil can interfere with medications, so check with your doctor first. - Plant oils. The seeds of evening primrose, borage and black currant contain a type of fatty acid that may help with rheumatoid arthritis pain and morning stiffness. Side effects may include nausea, diarrhea and gas. Some plant oils can cause liver damage or interfere with medications, so check with your doctor first. - Tai chi. This movement therapy involves gentle exercises and stretches combined with deep breathing. Many people use tai chi to relieve stress in their lives. Small studies have found that tai chi may reduce rheumatoid arthritis pain. When led by a knowledgeable instructor, tai chi is safe. But don't do any moves that cause pain. Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | {
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Early rheumatoid arthritis tends to affect your smaller joints first - particularly the joints that attach your fingers to your hands and your toes to your feet. | Rheumatoid arthritis Overview Rheumatoid arthritis is a chronic inflammatory disorder that can affect more than just your joints. In some people, the condition also can damage a wide variety of body systems, including the skin, eyes, lungs, heart and blood vessels. An autoimmune disorder, rheumatoid arthritis occurs when your immune system mistakenly attacks your own body's tissues. Unlike the wear-and-tear damage of osteoarthritis, rheumatoid arthritis affects the lining of your joints, causing a painful swelling that can eventually result in bone erosion and joint deformity. The inflammation associated with rheumatoid arthritis is what can damage other parts of the body as well. While new types of medications have improved treatment options dramatically, severe rheumatoid arthritis can still cause physical disabilities. Symptoms Signs and symptoms of rheumatoid arthritis may include: - Tender, warm, swollen joints - Joint stiffness that is usually worse in the mornings and after inactivity - Fatigue, fever and weight loss Early rheumatoid arthritis tends to affect your smaller joints first - particularly the joints that attach your fingers to your hands and your toes to your feet. As the disease progresses, symptoms often spread to the wrists, knees, ankles, elbows, hips and shoulders. In most cases, symptoms occur in the same joints on both sides of your body. About 40 percent of the people who have rheumatoid arthritis also experience signs and symptoms that don't involve the joints. Rheumatoid arthritis can affect many nonjoint structures, including: - Skin - Eyes - Lungs - Heart - Kidneys - Salivary glands - Nerve tissue - Bone marrow - Blood vessels Rheumatoid arthritis signs and symptoms may vary in severity and may even come and go. Periods of increased disease activity, called flares, alternate with periods of relative remission - when the swelling and pain fade or disappear. Over time, rheumatoid arthritis can cause joints to deform and shift out of place. Make an appointment with your doctor if you have persistent discomfort and swelling in your joints. Causes Rheumatoid arthritis occurs when your immune system attacks the synovium - the lining of the membranes that surround your joints. The resulting inflammation thickens the synovium, which can eventually destroy the cartilage and bone within the joint. The tendons and ligaments that hold the joint together weaken and stretch. Gradually, the joint loses its shape and alignment. Doctors don't know what starts this process, although a genetic component appears likely. While your genes don't actually cause rheumatoid arthritis, they can make you more susceptible to environmental factors - such as infection with certain viruses and bacteria - that may trigger the disease. Risk factors Factors that may increase your risk of rheumatoid arthritis include: - Your sex. Women are more likely than men to develop rheumatoid arthritis. - Age. Rheumatoid arthritis can occur at any age, but it most commonly begins between the ages of 40 and 60. - Family history. If a member of your family has rheumatoid arthritis, you may have an increased risk of the disease. - Smoking. Cigarette smoking increases your risk of developing rheumatoid arthritis, particularly if you have a genetic predisposition for developing the disease. Smoking also appears to be associated with greater disease severity. - Environmental exposures. Although uncertain and poorly understood, some exposures such as asbestos or silica may increase the risk for developing rheumatoid arthritis. Emergency workers exposed to dust from the collapse of the World Trade Center are at higher risk of autoimmune diseases such as rheumatoid arthritis. - Obesity. People who are overweight or obese appear to be at somewhat higher risk of developing rheumatoid arthritis, especially in women diagnosed with the disease when they were 55 or younger. Diagnosis Rheumatoid arthritis can be difficult to diagnose in its early stages because the early signs and symptoms mimic those of many other diseases. There is no one blood test or physical finding to confirm the diagnosis. During the physical exam, your doctor will check your joints for swelling, redness and warmth. He or she may also check your reflexes and muscle strength. Blood tests People with rheumatoid arthritis often have an elevated erythrocyte sedimentation rate (ESR, or sed rate) or C-reactive protein (CRP), which may indicate the presence of an inflammatory process in the body. Other common blood tests look for rheumatoid factor and anti-cyclic citrullinated peptide (anti-CCP) antibodies. Imaging tests Your doctor may recommend X-rays to help track the progression of rheumatoid arthritis in your joints over time. MRI and ultrasound tests can help your doctor judge the severity of the disease in your body. Treatment There is no cure for rheumatoid arthritis. But recent discoveries indicate that remission of symptoms is more likely when treatment begins early with strong medications known as disease-modifying antirheumatic drugs (DMARDs). Medications The types of medications recommended by your doctor will depend on the severity of your symptoms and how long you've had rheumatoid arthritis. - NSAIDs. Nonsteroidal anti-inflammatory drugs (NSAIDs) can relieve pain and reduce inflammation. Over-the-counter NSAIDs include ibuprofen (Advil, Motrin IB) and naproxen sodium (Aleve). Stronger NSAIDs are available by prescription. Side effects may include ringing in your ears, stomach irritation, heart problems, and liver and kidney damage. - Steroids. Corticosteroid medications, such as prednisone, reduce inflammation and pain and slow joint damage. Side effects may include thinning of bones, weight gain and diabetes. Doctors often prescribe a corticosteroid to relieve acute symptoms, with the goal of gradually tapering off the medication. - Disease-modifying antirheumatic drugs (DMARDs). These drugs can slow the progression of rheumatoid arthritis and save the joints and other tissues from permanent damage. Common DMARDs include methotrexate (Trexall, Otrexup, Rasuvo), leflunomide (Arava), hydroxychloroquine (Plaquenil) and sulfasalazine (Azulfidine). Side effects vary but may include liver damage, bone marrow suppression and severe lung infections. - Biologic agents. Also known as biologic response modifiers, this newer class of DMARDs includes abatacept (Orencia), adalimumab (Humira), anakinra (Kineret), certolizumab (Cimzia), etanercept (Enbrel), golimumab (Simponi), infliximab (Remicade), rituximab (Rituxan), tocilizumab (Actemra) and tofacitinib (Xeljanz). These drugs can target parts of the immune system that trigger inflammation that causes joint and tissue damage. These types of drugs also increase the risk of infections. Biologic DMARDs are usually most effective when paired with a nonbiologic DMARD, such as methotrexate. Therapy Your doctor may send you to a physical or occupational therapist who can teach you exercises to help keep your joints flexible. The therapist may also suggest new ways to do daily tasks, which will be easier on your joints. For example, if your fingers are sore, you may want to pick up an object using your forearms. Assistive devices can make it easier to avoid stressing your painful joints. For instance, a kitchen knife equipped with a saw handle helps protect your finger and wrist joints. Certain tools, such as buttonhooks, can make it easier to get dressed. Catalogs and medical supply stores are good places to look for ideas. Surgery If medications fail to prevent or slow joint damage, you and your doctor may consider surgery to repair damaged joints. Surgery may help restore your ability to use your joint. It can also reduce pain and correct deformities. Rheumatoid arthritis surgery may involve one or more of the following procedures: - Synovectomy. Surgery to remove the inflamed synovium (lining of the joint). Synovectomy can be performed on knees, elbows, wrists, fingers and hips. - Tendon repair. Inflammation and joint damage may cause tendons around your joint to loosen or rupture. Your surgeon may be able to repair the tendons around your joint. - Joint fusion. Surgically fusing a joint may be recommended to stabilize or realign a joint and for pain relief when a joint replacement isn't an option. - Total joint replacement. During joint replacement surgery, your surgeon removes the damaged parts of your joint and inserts a prosthesis made of metal and plastic. Surgery carries a risk of bleeding, infection and pain. Discuss the benefits and risks with your doctor. Lifestyle and home remedies You can take steps to care for your body if you have rheumatoid arthritis. These self-care measures, when used along with your rheumatoid arthritis medications, can help you manage your signs and symptoms: - Exercise regularly. Gentle exercise can help strengthen the muscles around your joints, and it can help fight fatigue you might feel. Check with your doctor before you start exercising. If you're just getting started, begin by taking a walk. Try swimming or gentle water aerobics. Avoid exercising tender, injured or severely inflamed joints. - Apply heat or cold. Heat can help ease your pain and relax tense, painful muscles. Cold may dull the sensation of pain. Cold also has a numbing effect and decreases muscle spasms. - Relax. Find ways to cope with pain by reducing stress in your life. Techniques such as guided imagery, distraction and muscle relaxation can all be used to control pain. Alternative medicine Some common complementary and alternative treatments that have shown promise for rheumatoid arthritis include: - Fish oil. Some preliminary studies have found that fish oil supplements may reduce rheumatoid arthritis pain and stiffness. Side effects can include nausea, belching and a fishy taste in the mouth. Fish oil can interfere with medications, so check with your doctor first. - Plant oils. The seeds of evening primrose, borage and black currant contain a type of fatty acid that may help with rheumatoid arthritis pain and morning stiffness. Side effects may include nausea, diarrhea and gas. Some plant oils can cause liver damage or interfere with medications, so check with your doctor first. - Tai chi. This movement therapy involves gentle exercises and stretches combined with deep breathing. Many people use tai chi to relieve stress in their lives. Small studies have found that tai chi may reduce rheumatoid arthritis pain. When led by a knowledgeable instructor, tai chi is safe. But don't do any moves that cause pain. Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | {
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Rheumatoid arthritis can be difficult to diagnose in its early stages because the early signs and symptoms mimic those of many other diseases. | Rheumatoid arthritis Overview Rheumatoid arthritis is a chronic inflammatory disorder that can affect more than just your joints. In some people, the condition also can damage a wide variety of body systems, including the skin, eyes, lungs, heart and blood vessels. An autoimmune disorder, rheumatoid arthritis occurs when your immune system mistakenly attacks your own body's tissues. Unlike the wear-and-tear damage of osteoarthritis, rheumatoid arthritis affects the lining of your joints, causing a painful swelling that can eventually result in bone erosion and joint deformity. The inflammation associated with rheumatoid arthritis is what can damage other parts of the body as well. While new types of medications have improved treatment options dramatically, severe rheumatoid arthritis can still cause physical disabilities. Symptoms Signs and symptoms of rheumatoid arthritis may include: - Tender, warm, swollen joints - Joint stiffness that is usually worse in the mornings and after inactivity - Fatigue, fever and weight loss Early rheumatoid arthritis tends to affect your smaller joints first - particularly the joints that attach your fingers to your hands and your toes to your feet. As the disease progresses, symptoms often spread to the wrists, knees, ankles, elbows, hips and shoulders. In most cases, symptoms occur in the same joints on both sides of your body. About 40 percent of the people who have rheumatoid arthritis also experience signs and symptoms that don't involve the joints. Rheumatoid arthritis can affect many nonjoint structures, including: - Skin - Eyes - Lungs - Heart - Kidneys - Salivary glands - Nerve tissue - Bone marrow - Blood vessels Rheumatoid arthritis signs and symptoms may vary in severity and may even come and go. Periods of increased disease activity, called flares, alternate with periods of relative remission - when the swelling and pain fade or disappear. Over time, rheumatoid arthritis can cause joints to deform and shift out of place. Make an appointment with your doctor if you have persistent discomfort and swelling in your joints. Causes Rheumatoid arthritis occurs when your immune system attacks the synovium - the lining of the membranes that surround your joints. The resulting inflammation thickens the synovium, which can eventually destroy the cartilage and bone within the joint. The tendons and ligaments that hold the joint together weaken and stretch. Gradually, the joint loses its shape and alignment. Doctors don't know what starts this process, although a genetic component appears likely. While your genes don't actually cause rheumatoid arthritis, they can make you more susceptible to environmental factors - such as infection with certain viruses and bacteria - that may trigger the disease. Risk factors Factors that may increase your risk of rheumatoid arthritis include: - Your sex. Women are more likely than men to develop rheumatoid arthritis. - Age. Rheumatoid arthritis can occur at any age, but it most commonly begins between the ages of 40 and 60. - Family history. If a member of your family has rheumatoid arthritis, you may have an increased risk of the disease. - Smoking. Cigarette smoking increases your risk of developing rheumatoid arthritis, particularly if you have a genetic predisposition for developing the disease. Smoking also appears to be associated with greater disease severity. - Environmental exposures. Although uncertain and poorly understood, some exposures such as asbestos or silica may increase the risk for developing rheumatoid arthritis. Emergency workers exposed to dust from the collapse of the World Trade Center are at higher risk of autoimmune diseases such as rheumatoid arthritis. - Obesity. People who are overweight or obese appear to be at somewhat higher risk of developing rheumatoid arthritis, especially in women diagnosed with the disease when they were 55 or younger. Diagnosis Rheumatoid arthritis can be difficult to diagnose in its early stages because the early signs and symptoms mimic those of many other diseases. There is no one blood test or physical finding to confirm the diagnosis. During the physical exam, your doctor will check your joints for swelling, redness and warmth. He or she may also check your reflexes and muscle strength. Blood tests People with rheumatoid arthritis often have an elevated erythrocyte sedimentation rate (ESR, or sed rate) or C-reactive protein (CRP), which may indicate the presence of an inflammatory process in the body. Other common blood tests look for rheumatoid factor and anti-cyclic citrullinated peptide (anti-CCP) antibodies. Imaging tests Your doctor may recommend X-rays to help track the progression of rheumatoid arthritis in your joints over time. MRI and ultrasound tests can help your doctor judge the severity of the disease in your body. Treatment There is no cure for rheumatoid arthritis. But recent discoveries indicate that remission of symptoms is more likely when treatment begins early with strong medications known as disease-modifying antirheumatic drugs (DMARDs). Medications The types of medications recommended by your doctor will depend on the severity of your symptoms and how long you've had rheumatoid arthritis. - NSAIDs. Nonsteroidal anti-inflammatory drugs (NSAIDs) can relieve pain and reduce inflammation. Over-the-counter NSAIDs include ibuprofen (Advil, Motrin IB) and naproxen sodium (Aleve). Stronger NSAIDs are available by prescription. Side effects may include ringing in your ears, stomach irritation, heart problems, and liver and kidney damage. - Steroids. Corticosteroid medications, such as prednisone, reduce inflammation and pain and slow joint damage. Side effects may include thinning of bones, weight gain and diabetes. Doctors often prescribe a corticosteroid to relieve acute symptoms, with the goal of gradually tapering off the medication. - Disease-modifying antirheumatic drugs (DMARDs). These drugs can slow the progression of rheumatoid arthritis and save the joints and other tissues from permanent damage. Common DMARDs include methotrexate (Trexall, Otrexup, Rasuvo), leflunomide (Arava), hydroxychloroquine (Plaquenil) and sulfasalazine (Azulfidine). Side effects vary but may include liver damage, bone marrow suppression and severe lung infections. - Biologic agents. Also known as biologic response modifiers, this newer class of DMARDs includes abatacept (Orencia), adalimumab (Humira), anakinra (Kineret), certolizumab (Cimzia), etanercept (Enbrel), golimumab (Simponi), infliximab (Remicade), rituximab (Rituxan), tocilizumab (Actemra) and tofacitinib (Xeljanz). These drugs can target parts of the immune system that trigger inflammation that causes joint and tissue damage. These types of drugs also increase the risk of infections. Biologic DMARDs are usually most effective when paired with a nonbiologic DMARD, such as methotrexate. Therapy Your doctor may send you to a physical or occupational therapist who can teach you exercises to help keep your joints flexible. The therapist may also suggest new ways to do daily tasks, which will be easier on your joints. For example, if your fingers are sore, you may want to pick up an object using your forearms. Assistive devices can make it easier to avoid stressing your painful joints. For instance, a kitchen knife equipped with a saw handle helps protect your finger and wrist joints. Certain tools, such as buttonhooks, can make it easier to get dressed. Catalogs and medical supply stores are good places to look for ideas. Surgery If medications fail to prevent or slow joint damage, you and your doctor may consider surgery to repair damaged joints. Surgery may help restore your ability to use your joint. It can also reduce pain and correct deformities. Rheumatoid arthritis surgery may involve one or more of the following procedures: - Synovectomy. Surgery to remove the inflamed synovium (lining of the joint). Synovectomy can be performed on knees, elbows, wrists, fingers and hips. - Tendon repair. Inflammation and joint damage may cause tendons around your joint to loosen or rupture. Your surgeon may be able to repair the tendons around your joint. - Joint fusion. Surgically fusing a joint may be recommended to stabilize or realign a joint and for pain relief when a joint replacement isn't an option. - Total joint replacement. During joint replacement surgery, your surgeon removes the damaged parts of your joint and inserts a prosthesis made of metal and plastic. Surgery carries a risk of bleeding, infection and pain. Discuss the benefits and risks with your doctor. Lifestyle and home remedies You can take steps to care for your body if you have rheumatoid arthritis. These self-care measures, when used along with your rheumatoid arthritis medications, can help you manage your signs and symptoms: - Exercise regularly. Gentle exercise can help strengthen the muscles around your joints, and it can help fight fatigue you might feel. Check with your doctor before you start exercising. If you're just getting started, begin by taking a walk. Try swimming or gentle water aerobics. Avoid exercising tender, injured or severely inflamed joints. - Apply heat or cold. Heat can help ease your pain and relax tense, painful muscles. Cold may dull the sensation of pain. Cold also has a numbing effect and decreases muscle spasms. - Relax. Find ways to cope with pain by reducing stress in your life. Techniques such as guided imagery, distraction and muscle relaxation can all be used to control pain. Alternative medicine Some common complementary and alternative treatments that have shown promise for rheumatoid arthritis include: - Fish oil. Some preliminary studies have found that fish oil supplements may reduce rheumatoid arthritis pain and stiffness. Side effects can include nausea, belching and a fishy taste in the mouth. Fish oil can interfere with medications, so check with your doctor first. - Plant oils. The seeds of evening primrose, borage and black currant contain a type of fatty acid that may help with rheumatoid arthritis pain and morning stiffness. Side effects may include nausea, diarrhea and gas. Some plant oils can cause liver damage or interfere with medications, so check with your doctor first. - Tai chi. This movement therapy involves gentle exercises and stretches combined with deep breathing. Many people use tai chi to relieve stress in their lives. Small studies have found that tai chi may reduce rheumatoid arthritis pain. When led by a knowledgeable instructor, tai chi is safe. But don't do any moves that cause pain. Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | {
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The signs and symptoms of rheumatoid arthritis usually appear in mid- to late adulthood. Many affected people have episodes of symptoms (flares) followed by periods with no symptoms (remissions) for the rest of their lives. In severe cases, affected individuals have continuous health problems related to the disease for many years. | Rheumatoid arthritis arthritis, rheumatoid RA Description Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, primarily affecting the joints. The most common signs and symptoms are pain, swelling, and stiffness of the joints. Small joints in the hands and feet are involved most often, although larger joints (such as the shoulders, hips, and knees) may become involved later in the disease. Joints are typically affected in a symmetrical pattern; for example, if joints in the hand are affected, both hands tend to be involved. People with rheumatoid arthritis often report that their joint pain and stiffness is worse when getting out of bed in the morning or after a long rest. Rheumatoid arthritis can also cause inflammation of other tissues and organs, including the eyes, lungs, and blood vessels. Additional signs and symptoms of the condition can include a loss of energy, a low fever, weight loss, and a shortage of red blood cells (anemia). Some affected individuals develop rheumatoid nodules, which are firm lumps of noncancerous tissue that can grow under the skin and elsewhere in the body. The signs and symptoms of rheumatoid arthritis usually appear in mid- to late adulthood. Many affected people have episodes of symptoms (flares) followed by periods with no symptoms (remissions) for the rest of their lives. In severe cases, affected individuals have continuous health problems related to the disease for many years. The abnormal inflammation can lead to severe joint damage, which limits movement and can cause significant disability. Frequency Rheumatoid arthritis affects about 1.3 million adults in the United States. Worldwide, it is estimated to occur in up to 1 percent of the population. The disease is two to three times more common in women than in men, which may be related to hormonal factors. Causes Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown. Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with rheumatoid arthritis, the immune system triggers abnormal inflammation in the membrane that lines the joints (the synovium). When the synovium is inflamed, it causes pain, swelling, and stiffness of the joint. In severe cases, the inflammation also affects the bone, cartilage, and other tissues within the joint, causing more serious damage. Abnormal immune reactions also underlie the features of rheumatoid arthritis affecting other parts of the body. Variations in dozens of genes have been studied as risk factors for rheumatoid arthritis. Most of these genes are known or suspected to be involved in immune system function. The most significant genetic risk factors for rheumatoid arthritis are variations in human leukocyte antigen (HLA) genes, especially the HLA-DRB1 gene. The proteins produced from HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Changes in other genes appear to have a smaller impact on a person's overall risk of developing the condition. Other, nongenetic factors are also believed to play a role in rheumatoid arthritis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), occupational exposure to certain kinds of dust or fibers, and viral or bacterial infections. Long-term smoking is a well-established risk factor for developing rheumatoid arthritis; it is also associated with more severe signs and symptoms in people who have the disease. Inheritance Pattern The inheritance pattern of rheumatoid arthritis is unclear because many genetic and environmental factors appear to be involved. However, having a close relative with rheumatoid arthritis likely increases a person's risk of developing the condition. Sources for This Page Carmona L, Cross M, Williams B, Lassere M, March L. Rheumatoid arthritis. Best Pract Res Clin Rheumatol. 2010 Dec;24(6):733-45. doi: 10.1016/j.berh.2010.10.001. Review. Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis? | {
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The cause of PCOS is unknown, but probably involves a combination of genetic and environmental factors | Polycystic ovarian syndrome PCOS Summary Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman's menstrual cycle, ability to have children, hormones , heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a combination of genetic and environmental factors . Treatment for PCOS may involve birth control pills and medications for diabetes and infertility. Medicines called anti-androgens are also used to speed the growth of hair and clear acne. [1] [2] Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality 0001939 Amenorrhea Abnormal absence of menstruation 0000141 Autosomal dominant inheritance 0000006 Enlarged polycystic ovaries 0008675 Hirsutism Excessive hairiness 0001007 Obesity Having too much body fat 0001513 Oligomenorrhea 0000876 Showing of Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. Polycystic ovarian syndrome Is it possible for parents to pass this on in the genes to their children - is there any other way this can be acquired? | Polycystic ovarian syndrome Is it possible for parents to pass this on in the genes to their children - is there any other way this can be acquired? | {
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Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability , problems with movement, and seizures that are difficult or impossible to treat. | Bilateral generalized polymicrogyria Bilateral generalised polymicrogyria Summary Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). [1] [2] [3] This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. [1] Signs and symptoms include severe intellectual disability , problems with movement, and seizures that are difficult or impossible to treat. [1] [2] While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. [2] Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. [1] [2] [3] Statistics Although polymicrogyria as a broad category of disorders is collectively believed to be fairly common, each individual type (such as bilateral generalized polymicrogyria) is probably rare. [1] [2] Unfortunately for the rare diseases, there's often not a calculated incidence or prevalence; there is no official method for tracking these conditions. To our knowledge, the incidence and prevalence of bilateral generalized polymicrogyria remains unknown. [1] [2] [3] polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc etc. Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it? | polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc etc. Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it? | {
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Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures ( epilepsy ); delayed development; crossed eyes ; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. | Polymicrogyria Summary Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures ( epilepsy ); delayed development; crossed eyes ; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome . Treatment is based on the signs and symptoms present in each person. [1] [2] Symptoms A wide variety of symptoms may be observed in people with polymicrogyria, depending on the areas of the brain implicated and whether or not it is part of a larger syndrome . Signs and symptoms may include: [3] [4] Developmental delay Crossed eyes Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech and swallowing Drooling Diagnosis The diagnosis of polymicrogyria is made by imaging brain structures using MRI . Typical findings include areas of the cerebral cortex with a complex set of small gyri that appear fused to each other and separated by shallow sulci. These findings may be isolated to one side of the brain (unilateral) or may involve both sides of the brain (bilateral). [3] [4] polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc etc. Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it? | polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc etc. Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it? | {
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The exact cause of preeclampsia involves several factors. Experts believe it begins in the placenta - the organ that nourishes the fetus throughout pregnancy. Early in pregnancy, new blood vessels develop and evolve to efficiently send blood to the placenta. In women with preeclampsia, these blood vessels don't seem to develop or function properly. They're narrower than normal blood vessels and react differently to hormonal signaling, which limits the amount of blood that can flow through them. Causes of this abnormal development may include: - Insufficient blood flow to the uterus - Damage to the blood vessels - A problem with the immune system - Certain genes | Preeclampsia Overview Preeclampsia is a pregnancy complication characterized by high blood pressure and signs of damage to another organ system, most often the liver and kidneys. Preeclampsia usually begins after 20 weeks of pregnancy in women whose blood pressure had been normal. Even a slight rise in blood pressure may be a sign of preeclampsia. Left untreated, preeclampsia can lead to serious - even fatal - complications for both you and your baby. If you have preeclampsia, the only cure is delivery of your baby. If you're diagnosed with preeclampsia too early in your pregnancy to deliver your baby, you and your doctor face a challenging task. Your baby needs more time to mature, but you need to avoid putting yourself or your baby at risk of serious complications. Symptoms Preeclampsia sometimes develops without any symptoms. High blood pressure may develop slowly, or it may have a sudden onset. Monitoring your blood pressure is an important part of prenatal care because the first sign of preeclampsia is commonly a rise in blood pressure. Blood pressure that exceeds 140/90 millimeters of mercury (mm Hg) or greater - documented on two occasions, at least four hours apart - is abnormal. Other signs and symptoms of preeclampsia may include: - Excess protein in your urine (proteinuria) or additional signs of kidney problems - Severe headaches - Changes in vision, including temporary loss of vision, blurred vision or light sensitivity - Upper abdominal pain, usually under your ribs on the right side - Nausea or vomiting - Decreased urine output - Decreased levels of platelets in your blood (thrombocytopenia) - Impaired liver function - Shortness of breath, caused by fluid in your lungs Sudden weight gain and swelling (edema) - particularly in your face and hands - may occur with preeclampsia. But these also occur in many normal pregnancies, so they're not considered reliable signs of preeclampsia. Make sure you attend your prenatal visits so that your care provider can monitor your blood pressure. Contact your doctor immediately or go to an emergency room if you have severe headaches, blurred vision or other visual disturbance, severe pain in your abdomen, or severe shortness of breath. Because headaches, nausea, and aches and pains are common pregnancy complaints, it's difficult to know when new symptoms are simply part of being pregnant and when they may indicate a serious problem - especially if it's your first pregnancy. If you're concerned about your symptoms, contact your doctor. Causes The exact cause of preeclampsia involves several factors. Experts believe it begins in the placenta - the organ that nourishes the fetus throughout pregnancy. Early in pregnancy, new blood vessels develop and evolve to efficiently send blood to the placenta. In women with preeclampsia, these blood vessels don't seem to develop or function properly. They're narrower than normal blood vessels and react differently to hormonal signaling, which limits the amount of blood that can flow through them. Causes of this abnormal development may include: - Insufficient blood flow to the uterus - Damage to the blood vessels - A problem with the immune system - Certain genes Preeclampsia is classified as one of four high blood pressure disorders that can occur during pregnancy. The other three are: - Gestational hypertension. Women with gestational hypertension have high blood pressure but no excess protein in their urine or other signs of organ damage. Some women with gestational hypertension eventually develop preeclampsia. - Chronic hypertension. Chronic hypertension is high blood pressure that was present before pregnancy or that occurs before 20 weeks of pregnancy. But because high blood pressure usually doesn't have symptoms, it may be hard to determine when it began. - Chronic hypertension with superimposed preeclampsia. This condition occurs in women who have been diagnosed with chronic high blood pressure before pregnancy, but then develop worsening high blood pressure and protein in the urine or other health complications during pregnancy. Risk factors Preeclampsia develops only as a complication of pregnancy. Risk factors include: - History of preeclampsia. A personal or family history of preeclampsia significantly raises your risk of preeclampsia. - Chronic hypertension. If you already have chronic hypertension, you have a higher risk of developing preeclampsia. - First pregnancy. The risk of developing preeclampsia is highest during your first pregnancy. - New paternity. Each pregnancy with a new partner increases the risk of preeclampsia more than does a second or third pregnancy with the same partner. - Age. The risk of preeclampsia is higher for very young pregnant women as well as pregnant women older than 40. - Obesity. The risk of preeclampsia is higher if you're obese. - Multiple pregnancy. Preeclampsia is more common in women who are carrying twins, triplets or other multiples. - Interval between pregnancies. Having babies less than two years or more than 10 years apart leads to a higher risk of preeclampsia. - History of certain conditions. Having certain conditions before you become pregnant - such as chronic high blood pressure, migraines, type 1 or type 2 diabetes, kidney disease, a tendency to develop blood clots, or lupus - increases your risk of preeclampsia. - In vitro fertilization. Your risk of preeclampsia is increased if your baby was conceived with in vitro fertilization. Complications The more severe your preeclampsia and the earlier it occurs in your pregnancy, the greater the risks for you and your baby. Preeclampsia may require induced labor and delivery. Delivery by cesarean delivery (C-section) may be necessary if there are clinical or obstetric conditions that require a speedy delivery. Your obstetric provider will assist you in deciding what type of delivery is correct for your condition. Complications of preeclampsia may include: - Fetal growth restriction. Preeclampsia affects the arteries carrying blood to the placenta. If the placenta doesn't get enough blood, your baby may receive inadequate blood and oxygen and fewer nutrients. This can lead to slow growth known as fetal growth restriction, low birth weight or preterm birth. - Preterm birth. If you have preeclampsia with severe features, you may need to be delivered early, to save the life of you and your baby. Prematurity can lead to breathing and other problems for your baby. Your health care provider will help you understand when is the ideal time for your delivery. - Placental abruption. Preeclampsia increases your risk of placental abruption, a condition in which the placenta separates from the inner wall of your uterus before delivery. Severe abruption can cause heavy bleeding, which can be life-threatening for both you and your baby. - HELLP syndrome. HELLP - which stands for hemolysis (the destruction of red blood cells), elevated liver enzymes and low platelet count - syndrome is a more severe form of preeclampsia, and can rapidly become life-threatening for both you and your baby. Symptoms of HELLP syndrome include nausea and vomiting, headache, and upper right abdominal pain. HELLP syndrome is particularly dangerous because it represents damage to several organ systems. On occasion, it may develop suddenly, even before high blood pressure is detected or it may develop without any symptoms at all. - Eclampsia. When preeclampsia isn't controlled, eclampsia - which is essentially preeclampsia plus seizures - can develop. It is very difficult to predict which patients will have preeclampsia that is severe enough to result in eclampsia. Often, there are no symptoms or warning signs to predict eclampsia. Because eclampsia can have serious consequences for both mom and baby, delivery becomes necessary, regardless of how far along the pregnancy is. - Other organ damage. Preeclampsia may result in kidney, liver, lung, heart, or eyes, and may cause a stroke or other brain injury. The amount of injury to other organs depends on the severity of preeclampsia. - Cardiovascular disease. Having preeclampsia may increase your risk of future heart and blood vessel (cardiovascular) disease. The risk is even greater if you've had preeclampsia more than once or you've had a preterm delivery. To minimize this risk, after delivery try to maintain your ideal weight, eat a variety of fruits and vegetables, exercise regularly, and don't smoke. Diagnosis To diagnose preeclampsia, you have to have high blood pressure and one or more of the following complications after the 20th week of pregnancy: - Protein in your urine (proteinuria) - A low platelet count - Impaired liver function - Signs of kidney trouble other than protein in the urine - Fluid in the lungs (pulmonary edema) - New-onset headaches or visual disturbances Previously, preeclampsia was only diagnosed if high blood pressure and protein in the urine were present. However, experts now know that it's possible to have preeclampsia, yet never have protein in the urine. A blood pressure reading in excess of 140/90 mm Hg is abnormal in pregnancy. However, a single high blood pressure reading doesn't mean you have preeclampsia. If you have one reading in the abnormal range - or a reading that's substantially higher than your usual blood pressure - your doctor will closely observe your numbers. Having a second abnormal blood pressure reading four hours after the first may confirm your doctor's suspicion of preeclampsia. Your doctor may have you come in for additional blood pressure readings and blood and urine tests. Tests that may be needed If your doctor suspects preeclampsia, you may need certain tests, including: - Blood tests. Your doctor will order liver function tests, kidney function tests and also measure your platelets - the cells that help blood clot. - Urine analysis. Your doctor will ask you to collect your urine for 24 hours, for measurement of the amount of protein in your urine. A single urine sample that measures the ratio of protein to creatinine - a chemical that's always present in the urine - also may be used to make the diagnosis. - Fetal ultrasound. Your doctor may also recommend close monitoring of your baby's growth, typically through ultrasound. The images of your baby created during the ultrasound exam allow your doctor to estimate fetal weight and the amount of fluid in the uterus (amniotic fluid). - Nonstress test or biophysical profile. A nonstress test is a simple procedure that checks how your baby's heart rate reacts when your baby moves. A biophysical profile uses an ultrasound to measure your baby's breathing, muscle tone, movement and the volume of amniotic fluid in your uterus. Treatment The only cure for preeclampsia is delivery. You're at increased risk of seizures, placental abruption, stroke and possibly severe bleeding until your blood pressure decreases. Of course, if it's too early in your pregnancy, delivery may not be the best thing for your baby. If you're diagnosed with preeclampsia, your doctor will let you know how often you'll need to come in for prenatal visits - likely more frequently than what's typically recommended for pregnancy. You'll also need more frequent blood tests, ultrasounds and nonstress tests than would be expected in an uncomplicated pregnancy. Medications Possible treatment for preeclampsia may include: - Medications to lower blood pressure. These medications, called antihypertensives, are used to lower your blood pressure if it's dangerously high. Blood pressure in the 140/90 millimeters of mercury (mm Hg) range generally isn't treated. Although there are many different types of antihypertensive medications, a number of them aren't safe to use during pregnancy. Discuss with your doctor whether you need to use an antihypertensive medicine in your situation to control your blood pressure. - Corticosteroids. If you have severe preeclampsia or HELLP syndrome, corticosteroid medications can temporarily improve liver and platelet function to help prolong your pregnancy. Corticosteroids can also help your baby's lungs become more mature in as little as 48 hours - an important step in preparing a premature baby for life outside the womb. - Anticonvulsant medications. If your preeclampsia is severe, your doctor may prescribe an anticonvulsant medication, such as magnesium sulfate, to prevent a first seizure. Bed rest Bed rest used to be routinely recommended for women with preeclampsia. But research hasn't shown a benefit from this practice, and it can increase your risk of blood clots, as well as impact your economic and social lives. For most women, bed rest is no longer recommended. Hospitalization Severe preeclampsia may require that you be hospitalized. In the hospital, your doctor may perform regular nonstress tests or biophysical profiles to monitor your baby's well-being and measure the volume of amniotic fluid. A lack of amniotic fluid is a sign of poor blood supply to the baby. Delivery If you're diagnosed with preeclampsia near the end of your pregnancy, your doctor may recommend inducing labor right away. The readiness of your cervix - whether it's beginning to open (dilate), thin (efface) and soften (ripen) - also may be a factor in determining whether or when labor will be induced. In severe cases, it may not be possible to consider your baby's gestational age or the readiness of your cervix. If it's not possible to wait, your doctor may induce labor or schedule a C-section right away. During delivery, you may be given magnesium sulfate intravenously to prevent seizures. If you need pain-relieving medication after your delivery, ask your doctor what you should take. NSAIDs, such as ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve), can increase your blood pressure. prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | {
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Possible treatment for preeclampsia may include: - Medications to lower blood pressure. These medications, called antihypertensives, are used to lower your blood pressure if it's dangerously high. Although there are many different types of antihypertensive medications, a number of them aren't safe to use during pregnancy. Discuss with your doctor whether you need to use an antihypertensive medicine in your situation to control your blood pressure. - Corticosteroids. If you have severe preeclampsia or HELLP syndrome, corticosteroid medications can temporarily improve liver and platelet function to help prolong your pregnancy. Corticosteroids can also help your baby's lungs become more mature in as little as 48 hours - an important step in preparing a premature baby for life outside the womb. - Anticonvulsant medications. If your preeclampsia is severe, your doctor may prescribe an anticonvulsant medication, such as magnesium sulfate, to prevent a first seizure. Bed rest Bed rest used to be routinely recommended for women with preeclampsia. But research hasn't shown a benefit from this practice, and it can increase your risk of blood clots, as well as impact your economic and social lives. For most women, bed rest is no longer recommended. Hospitalization Severe preeclampsia may require that you be hospitalized. In the hospital, your doctor may perform regular nonstress tests or biophysical profiles to monitor your baby's well-being and measure the volume of amniotic fluid. If you're diagnosed with preeclampsia near the end of your pregnancy, your doctor may recommend inducing labor right away. | Preeclampsia Overview Preeclampsia is a pregnancy complication characterized by high blood pressure and signs of damage to another organ system, most often the liver and kidneys. Preeclampsia usually begins after 20 weeks of pregnancy in women whose blood pressure had been normal. Even a slight rise in blood pressure may be a sign of preeclampsia. Left untreated, preeclampsia can lead to serious - even fatal - complications for both you and your baby. If you have preeclampsia, the only cure is delivery of your baby. If you're diagnosed with preeclampsia too early in your pregnancy to deliver your baby, you and your doctor face a challenging task. Your baby needs more time to mature, but you need to avoid putting yourself or your baby at risk of serious complications. Symptoms Preeclampsia sometimes develops without any symptoms. High blood pressure may develop slowly, or it may have a sudden onset. Monitoring your blood pressure is an important part of prenatal care because the first sign of preeclampsia is commonly a rise in blood pressure. Blood pressure that exceeds 140/90 millimeters of mercury (mm Hg) or greater - documented on two occasions, at least four hours apart - is abnormal. Other signs and symptoms of preeclampsia may include: - Excess protein in your urine (proteinuria) or additional signs of kidney problems - Severe headaches - Changes in vision, including temporary loss of vision, blurred vision or light sensitivity - Upper abdominal pain, usually under your ribs on the right side - Nausea or vomiting - Decreased urine output - Decreased levels of platelets in your blood (thrombocytopenia) - Impaired liver function - Shortness of breath, caused by fluid in your lungs Sudden weight gain and swelling (edema) - particularly in your face and hands - may occur with preeclampsia. But these also occur in many normal pregnancies, so they're not considered reliable signs of preeclampsia. Make sure you attend your prenatal visits so that your care provider can monitor your blood pressure. Contact your doctor immediately or go to an emergency room if you have severe headaches, blurred vision or other visual disturbance, severe pain in your abdomen, or severe shortness of breath. Because headaches, nausea, and aches and pains are common pregnancy complaints, it's difficult to know when new symptoms are simply part of being pregnant and when they may indicate a serious problem - especially if it's your first pregnancy. If you're concerned about your symptoms, contact your doctor. Causes The exact cause of preeclampsia involves several factors. Experts believe it begins in the placenta - the organ that nourishes the fetus throughout pregnancy. Early in pregnancy, new blood vessels develop and evolve to efficiently send blood to the placenta. In women with preeclampsia, these blood vessels don't seem to develop or function properly. They're narrower than normal blood vessels and react differently to hormonal signaling, which limits the amount of blood that can flow through them. Causes of this abnormal development may include: - Insufficient blood flow to the uterus - Damage to the blood vessels - A problem with the immune system - Certain genes Preeclampsia is classified as one of four high blood pressure disorders that can occur during pregnancy. The other three are: - Gestational hypertension. Women with gestational hypertension have high blood pressure but no excess protein in their urine or other signs of organ damage. Some women with gestational hypertension eventually develop preeclampsia. - Chronic hypertension. Chronic hypertension is high blood pressure that was present before pregnancy or that occurs before 20 weeks of pregnancy. But because high blood pressure usually doesn't have symptoms, it may be hard to determine when it began. - Chronic hypertension with superimposed preeclampsia. This condition occurs in women who have been diagnosed with chronic high blood pressure before pregnancy, but then develop worsening high blood pressure and protein in the urine or other health complications during pregnancy. Risk factors Preeclampsia develops only as a complication of pregnancy. Risk factors include: - History of preeclampsia. A personal or family history of preeclampsia significantly raises your risk of preeclampsia. - Chronic hypertension. If you already have chronic hypertension, you have a higher risk of developing preeclampsia. - First pregnancy. The risk of developing preeclampsia is highest during your first pregnancy. - New paternity. Each pregnancy with a new partner increases the risk of preeclampsia more than does a second or third pregnancy with the same partner. - Age. The risk of preeclampsia is higher for very young pregnant women as well as pregnant women older than 40. - Obesity. The risk of preeclampsia is higher if you're obese. - Multiple pregnancy. Preeclampsia is more common in women who are carrying twins, triplets or other multiples. - Interval between pregnancies. Having babies less than two years or more than 10 years apart leads to a higher risk of preeclampsia. - History of certain conditions. Having certain conditions before you become pregnant - such as chronic high blood pressure, migraines, type 1 or type 2 diabetes, kidney disease, a tendency to develop blood clots, or lupus - increases your risk of preeclampsia. - In vitro fertilization. Your risk of preeclampsia is increased if your baby was conceived with in vitro fertilization. Complications The more severe your preeclampsia and the earlier it occurs in your pregnancy, the greater the risks for you and your baby. Preeclampsia may require induced labor and delivery. Delivery by cesarean delivery (C-section) may be necessary if there are clinical or obstetric conditions that require a speedy delivery. Your obstetric provider will assist you in deciding what type of delivery is correct for your condition. Complications of preeclampsia may include: - Fetal growth restriction. Preeclampsia affects the arteries carrying blood to the placenta. If the placenta doesn't get enough blood, your baby may receive inadequate blood and oxygen and fewer nutrients. This can lead to slow growth known as fetal growth restriction, low birth weight or preterm birth. - Preterm birth. If you have preeclampsia with severe features, you may need to be delivered early, to save the life of you and your baby. Prematurity can lead to breathing and other problems for your baby. Your health care provider will help you understand when is the ideal time for your delivery. - Placental abruption. Preeclampsia increases your risk of placental abruption, a condition in which the placenta separates from the inner wall of your uterus before delivery. Severe abruption can cause heavy bleeding, which can be life-threatening for both you and your baby. - HELLP syndrome. HELLP - which stands for hemolysis (the destruction of red blood cells), elevated liver enzymes and low platelet count - syndrome is a more severe form of preeclampsia, and can rapidly become life-threatening for both you and your baby. Symptoms of HELLP syndrome include nausea and vomiting, headache, and upper right abdominal pain. HELLP syndrome is particularly dangerous because it represents damage to several organ systems. On occasion, it may develop suddenly, even before high blood pressure is detected or it may develop without any symptoms at all. - Eclampsia. When preeclampsia isn't controlled, eclampsia - which is essentially preeclampsia plus seizures - can develop. It is very difficult to predict which patients will have preeclampsia that is severe enough to result in eclampsia. Often, there are no symptoms or warning signs to predict eclampsia. Because eclampsia can have serious consequences for both mom and baby, delivery becomes necessary, regardless of how far along the pregnancy is. - Other organ damage. Preeclampsia may result in kidney, liver, lung, heart, or eyes, and may cause a stroke or other brain injury. The amount of injury to other organs depends on the severity of preeclampsia. - Cardiovascular disease. Having preeclampsia may increase your risk of future heart and blood vessel (cardiovascular) disease. The risk is even greater if you've had preeclampsia more than once or you've had a preterm delivery. To minimize this risk, after delivery try to maintain your ideal weight, eat a variety of fruits and vegetables, exercise regularly, and don't smoke. Diagnosis To diagnose preeclampsia, you have to have high blood pressure and one or more of the following complications after the 20th week of pregnancy: - Protein in your urine (proteinuria) - A low platelet count - Impaired liver function - Signs of kidney trouble other than protein in the urine - Fluid in the lungs (pulmonary edema) - New-onset headaches or visual disturbances Previously, preeclampsia was only diagnosed if high blood pressure and protein in the urine were present. However, experts now know that it's possible to have preeclampsia, yet never have protein in the urine. A blood pressure reading in excess of 140/90 mm Hg is abnormal in pregnancy. However, a single high blood pressure reading doesn't mean you have preeclampsia. If you have one reading in the abnormal range - or a reading that's substantially higher than your usual blood pressure - your doctor will closely observe your numbers. Having a second abnormal blood pressure reading four hours after the first may confirm your doctor's suspicion of preeclampsia. Your doctor may have you come in for additional blood pressure readings and blood and urine tests. Tests that may be needed If your doctor suspects preeclampsia, you may need certain tests, including: - Blood tests. Your doctor will order liver function tests, kidney function tests and also measure your platelets - the cells that help blood clot. - Urine analysis. Your doctor will ask you to collect your urine for 24 hours, for measurement of the amount of protein in your urine. A single urine sample that measures the ratio of protein to creatinine - a chemical that's always present in the urine - also may be used to make the diagnosis. - Fetal ultrasound. Your doctor may also recommend close monitoring of your baby's growth, typically through ultrasound. The images of your baby created during the ultrasound exam allow your doctor to estimate fetal weight and the amount of fluid in the uterus (amniotic fluid). - Nonstress test or biophysical profile. A nonstress test is a simple procedure that checks how your baby's heart rate reacts when your baby moves. A biophysical profile uses an ultrasound to measure your baby's breathing, muscle tone, movement and the volume of amniotic fluid in your uterus. Treatment The only cure for preeclampsia is delivery. You're at increased risk of seizures, placental abruption, stroke and possibly severe bleeding until your blood pressure decreases. Of course, if it's too early in your pregnancy, delivery may not be the best thing for your baby. If you're diagnosed with preeclampsia, your doctor will let you know how often you'll need to come in for prenatal visits - likely more frequently than what's typically recommended for pregnancy. You'll also need more frequent blood tests, ultrasounds and nonstress tests than would be expected in an uncomplicated pregnancy. Medications Possible treatment for preeclampsia may include: - Medications to lower blood pressure. These medications, called antihypertensives, are used to lower your blood pressure if it's dangerously high. Blood pressure in the 140/90 millimeters of mercury (mm Hg) range generally isn't treated. Although there are many different types of antihypertensive medications, a number of them aren't safe to use during pregnancy. Discuss with your doctor whether you need to use an antihypertensive medicine in your situation to control your blood pressure. - Corticosteroids. If you have severe preeclampsia or HELLP syndrome, corticosteroid medications can temporarily improve liver and platelet function to help prolong your pregnancy. Corticosteroids can also help your baby's lungs become more mature in as little as 48 hours - an important step in preparing a premature baby for life outside the womb. - Anticonvulsant medications. If your preeclampsia is severe, your doctor may prescribe an anticonvulsant medication, such as magnesium sulfate, to prevent a first seizure. Bed rest Bed rest used to be routinely recommended for women with preeclampsia. But research hasn't shown a benefit from this practice, and it can increase your risk of blood clots, as well as impact your economic and social lives. For most women, bed rest is no longer recommended. Hospitalization Severe preeclampsia may require that you be hospitalized. In the hospital, your doctor may perform regular nonstress tests or biophysical profiles to monitor your baby's well-being and measure the volume of amniotic fluid. A lack of amniotic fluid is a sign of poor blood supply to the baby. Delivery If you're diagnosed with preeclampsia near the end of your pregnancy, your doctor may recommend inducing labor right away. The readiness of your cervix - whether it's beginning to open (dilate), thin (efface) and soften (ripen) - also may be a factor in determining whether or when labor will be induced. In severe cases, it may not be possible to consider your baby's gestational age or the readiness of your cervix. If it's not possible to wait, your doctor may induce labor or schedule a C-section right away. During delivery, you may be given magnesium sulfate intravenously to prevent seizures. If you need pain-relieving medication after your delivery, ask your doctor what you should take. NSAIDs, such as ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve), can increase your blood pressure. prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | {
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Preeclampsia develops only as a complication of pregnancy. Risk factors include: - History of preeclampsia. A personal or family history of preeclampsia significantly raises your risk of preeclampsia. - Chronic hypertension. If you already have chronic hypertension, you have a higher risk of developing preeclampsia. -The risk of developing preeclampsia is highest during your first pregnancy. - New paternity. Each pregnancy with a new partner increases the risk of preeclampsia more than does a second or third pregnancy with the same partner. - Age. The risk of preeclampsia is higher for very young pregnant women as well as pregnant women older than 40. - Obesity. The risk of preeclampsia is higher if you're obese. - Multiple pregnancy. Preeclampsia is more common in women who are carrying twins, triplets or other multiples. - Interval between pregnancies. Having babies less than two years or more than 10 years apart leads to a higher risk of preeclampsia Having certain conditions before you become pregnant - such as chronic high blood pressure, migraines, type 1 or type 2 diabetes, kidney disease, a tendency to develop blood clots, or lupus - increases your risk of preeclampsia. - In vitro fertilization. Your risk of preeclampsia is increased if your baby was conceived with in vitro fertilization. | Preeclampsia Overview Preeclampsia is a pregnancy complication characterized by high blood pressure and signs of damage to another organ system, most often the liver and kidneys. Preeclampsia usually begins after 20 weeks of pregnancy in women whose blood pressure had been normal. Even a slight rise in blood pressure may be a sign of preeclampsia. Left untreated, preeclampsia can lead to serious - even fatal - complications for both you and your baby. If you have preeclampsia, the only cure is delivery of your baby. If you're diagnosed with preeclampsia too early in your pregnancy to deliver your baby, you and your doctor face a challenging task. Your baby needs more time to mature, but you need to avoid putting yourself or your baby at risk of serious complications. Symptoms Preeclampsia sometimes develops without any symptoms. High blood pressure may develop slowly, or it may have a sudden onset. Monitoring your blood pressure is an important part of prenatal care because the first sign of preeclampsia is commonly a rise in blood pressure. Blood pressure that exceeds 140/90 millimeters of mercury (mm Hg) or greater - documented on two occasions, at least four hours apart - is abnormal. Other signs and symptoms of preeclampsia may include: - Excess protein in your urine (proteinuria) or additional signs of kidney problems - Severe headaches - Changes in vision, including temporary loss of vision, blurred vision or light sensitivity - Upper abdominal pain, usually under your ribs on the right side - Nausea or vomiting - Decreased urine output - Decreased levels of platelets in your blood (thrombocytopenia) - Impaired liver function - Shortness of breath, caused by fluid in your lungs Sudden weight gain and swelling (edema) - particularly in your face and hands - may occur with preeclampsia. But these also occur in many normal pregnancies, so they're not considered reliable signs of preeclampsia. Make sure you attend your prenatal visits so that your care provider can monitor your blood pressure. Contact your doctor immediately or go to an emergency room if you have severe headaches, blurred vision or other visual disturbance, severe pain in your abdomen, or severe shortness of breath. Because headaches, nausea, and aches and pains are common pregnancy complaints, it's difficult to know when new symptoms are simply part of being pregnant and when they may indicate a serious problem - especially if it's your first pregnancy. If you're concerned about your symptoms, contact your doctor. Causes The exact cause of preeclampsia involves several factors. Experts believe it begins in the placenta - the organ that nourishes the fetus throughout pregnancy. Early in pregnancy, new blood vessels develop and evolve to efficiently send blood to the placenta. In women with preeclampsia, these blood vessels don't seem to develop or function properly. They're narrower than normal blood vessels and react differently to hormonal signaling, which limits the amount of blood that can flow through them. Causes of this abnormal development may include: - Insufficient blood flow to the uterus - Damage to the blood vessels - A problem with the immune system - Certain genes Preeclampsia is classified as one of four high blood pressure disorders that can occur during pregnancy. The other three are: - Gestational hypertension. Women with gestational hypertension have high blood pressure but no excess protein in their urine or other signs of organ damage. Some women with gestational hypertension eventually develop preeclampsia. - Chronic hypertension. Chronic hypertension is high blood pressure that was present before pregnancy or that occurs before 20 weeks of pregnancy. But because high blood pressure usually doesn't have symptoms, it may be hard to determine when it began. - Chronic hypertension with superimposed preeclampsia. This condition occurs in women who have been diagnosed with chronic high blood pressure before pregnancy, but then develop worsening high blood pressure and protein in the urine or other health complications during pregnancy. Risk factors Preeclampsia develops only as a complication of pregnancy. Risk factors include: - History of preeclampsia. A personal or family history of preeclampsia significantly raises your risk of preeclampsia. - Chronic hypertension. If you already have chronic hypertension, you have a higher risk of developing preeclampsia. - First pregnancy. The risk of developing preeclampsia is highest during your first pregnancy. - New paternity. Each pregnancy with a new partner increases the risk of preeclampsia more than does a second or third pregnancy with the same partner. - Age. The risk of preeclampsia is higher for very young pregnant women as well as pregnant women older than 40. - Obesity. The risk of preeclampsia is higher if you're obese. - Multiple pregnancy. Preeclampsia is more common in women who are carrying twins, triplets or other multiples. - Interval between pregnancies. Having babies less than two years or more than 10 years apart leads to a higher risk of preeclampsia. - History of certain conditions. Having certain conditions before you become pregnant - such as chronic high blood pressure, migraines, type 1 or type 2 diabetes, kidney disease, a tendency to develop blood clots, or lupus - increases your risk of preeclampsia. - In vitro fertilization. Your risk of preeclampsia is increased if your baby was conceived with in vitro fertilization. Complications The more severe your preeclampsia and the earlier it occurs in your pregnancy, the greater the risks for you and your baby. Preeclampsia may require induced labor and delivery. Delivery by cesarean delivery (C-section) may be necessary if there are clinical or obstetric conditions that require a speedy delivery. Your obstetric provider will assist you in deciding what type of delivery is correct for your condition. Complications of preeclampsia may include: - Fetal growth restriction. Preeclampsia affects the arteries carrying blood to the placenta. If the placenta doesn't get enough blood, your baby may receive inadequate blood and oxygen and fewer nutrients. This can lead to slow growth known as fetal growth restriction, low birth weight or preterm birth. - Preterm birth. If you have preeclampsia with severe features, you may need to be delivered early, to save the life of you and your baby. Prematurity can lead to breathing and other problems for your baby. Your health care provider will help you understand when is the ideal time for your delivery. - Placental abruption. Preeclampsia increases your risk of placental abruption, a condition in which the placenta separates from the inner wall of your uterus before delivery. Severe abruption can cause heavy bleeding, which can be life-threatening for both you and your baby. - HELLP syndrome. HELLP - which stands for hemolysis (the destruction of red blood cells), elevated liver enzymes and low platelet count - syndrome is a more severe form of preeclampsia, and can rapidly become life-threatening for both you and your baby. Symptoms of HELLP syndrome include nausea and vomiting, headache, and upper right abdominal pain. HELLP syndrome is particularly dangerous because it represents damage to several organ systems. On occasion, it may develop suddenly, even before high blood pressure is detected or it may develop without any symptoms at all. - Eclampsia. When preeclampsia isn't controlled, eclampsia - which is essentially preeclampsia plus seizures - can develop. It is very difficult to predict which patients will have preeclampsia that is severe enough to result in eclampsia. Often, there are no symptoms or warning signs to predict eclampsia. Because eclampsia can have serious consequences for both mom and baby, delivery becomes necessary, regardless of how far along the pregnancy is. - Other organ damage. Preeclampsia may result in kidney, liver, lung, heart, or eyes, and may cause a stroke or other brain injury. The amount of injury to other organs depends on the severity of preeclampsia. - Cardiovascular disease. Having preeclampsia may increase your risk of future heart and blood vessel (cardiovascular) disease. The risk is even greater if you've had preeclampsia more than once or you've had a preterm delivery. To minimize this risk, after delivery try to maintain your ideal weight, eat a variety of fruits and vegetables, exercise regularly, and don't smoke. Diagnosis To diagnose preeclampsia, you have to have high blood pressure and one or more of the following complications after the 20th week of pregnancy: - Protein in your urine (proteinuria) - A low platelet count - Impaired liver function - Signs of kidney trouble other than protein in the urine - Fluid in the lungs (pulmonary edema) - New-onset headaches or visual disturbances Previously, preeclampsia was only diagnosed if high blood pressure and protein in the urine were present. However, experts now know that it's possible to have preeclampsia, yet never have protein in the urine. A blood pressure reading in excess of 140/90 mm Hg is abnormal in pregnancy. However, a single high blood pressure reading doesn't mean you have preeclampsia. If you have one reading in the abnormal range - or a reading that's substantially higher than your usual blood pressure - your doctor will closely observe your numbers. Having a second abnormal blood pressure reading four hours after the first may confirm your doctor's suspicion of preeclampsia. Your doctor may have you come in for additional blood pressure readings and blood and urine tests. Tests that may be needed If your doctor suspects preeclampsia, you may need certain tests, including: - Blood tests. Your doctor will order liver function tests, kidney function tests and also measure your platelets - the cells that help blood clot. - Urine analysis. Your doctor will ask you to collect your urine for 24 hours, for measurement of the amount of protein in your urine. A single urine sample that measures the ratio of protein to creatinine - a chemical that's always present in the urine - also may be used to make the diagnosis. - Fetal ultrasound. Your doctor may also recommend close monitoring of your baby's growth, typically through ultrasound. The images of your baby created during the ultrasound exam allow your doctor to estimate fetal weight and the amount of fluid in the uterus (amniotic fluid). - Nonstress test or biophysical profile. A nonstress test is a simple procedure that checks how your baby's heart rate reacts when your baby moves. A biophysical profile uses an ultrasound to measure your baby's breathing, muscle tone, movement and the volume of amniotic fluid in your uterus. Treatment The only cure for preeclampsia is delivery. You're at increased risk of seizures, placental abruption, stroke and possibly severe bleeding until your blood pressure decreases. Of course, if it's too early in your pregnancy, delivery may not be the best thing for your baby. If you're diagnosed with preeclampsia, your doctor will let you know how often you'll need to come in for prenatal visits - likely more frequently than what's typically recommended for pregnancy. You'll also need more frequent blood tests, ultrasounds and nonstress tests than would be expected in an uncomplicated pregnancy. Medications Possible treatment for preeclampsia may include: - Medications to lower blood pressure. These medications, called antihypertensives, are used to lower your blood pressure if it's dangerously high. Blood pressure in the 140/90 millimeters of mercury (mm Hg) range generally isn't treated. Although there are many different types of antihypertensive medications, a number of them aren't safe to use during pregnancy. Discuss with your doctor whether you need to use an antihypertensive medicine in your situation to control your blood pressure. - Corticosteroids. If you have severe preeclampsia or HELLP syndrome, corticosteroid medications can temporarily improve liver and platelet function to help prolong your pregnancy. Corticosteroids can also help your baby's lungs become more mature in as little as 48 hours - an important step in preparing a premature baby for life outside the womb. - Anticonvulsant medications. If your preeclampsia is severe, your doctor may prescribe an anticonvulsant medication, such as magnesium sulfate, to prevent a first seizure. Bed rest Bed rest used to be routinely recommended for women with preeclampsia. But research hasn't shown a benefit from this practice, and it can increase your risk of blood clots, as well as impact your economic and social lives. For most women, bed rest is no longer recommended. Hospitalization Severe preeclampsia may require that you be hospitalized. In the hospital, your doctor may perform regular nonstress tests or biophysical profiles to monitor your baby's well-being and measure the volume of amniotic fluid. A lack of amniotic fluid is a sign of poor blood supply to the baby. Delivery If you're diagnosed with preeclampsia near the end of your pregnancy, your doctor may recommend inducing labor right away. The readiness of your cervix - whether it's beginning to open (dilate), thin (efface) and soften (ripen) - also may be a factor in determining whether or when labor will be induced. In severe cases, it may not be possible to consider your baby's gestational age or the readiness of your cervix. If it's not possible to wait, your doctor may induce labor or schedule a C-section right away. During delivery, you may be given magnesium sulfate intravenously to prevent seizures. If you need pain-relieving medication after your delivery, ask your doctor what you should take. NSAIDs, such as ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve), can increase your blood pressure. prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | {
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Although preeclampsia occurs primarily in first pregnancies, a woman who had preeclampsia in a previous pregnancy is seven times more likely to develop preeclampsia in a later pregnancy.5Other factors that can increase a woman's risk include:5- Chronic high blood pressure or kidney disease before pregnancy - High blood pressure or preeclampsia in an earlier pregnancy - Obesity. Overweight or obese women are also more likely to have preeclampsia in more than one pregnancy. - Age. Women older than 40 are at higher risk. - Multiple gestation (being pregnant with more than one fetus) - African American ethnicity. Also, among women who have had preeclampsia before, non-white women are more likely than white women to develop preeclampsia again in a later pregnancy.6 - Family history of preeclampsia. According to the World Health Organization, among women who have had preeclampsia, about 20% to 40% of their daughters and 11% to 37% of their sisters also will get the disorder.7Preeclampsia is also more common among women who have histories of certain health conditions, such as migraines,8 diabetes,9 rheumatoid arthritis,10 lupus,11 scleroderma,12 urinary tract infections,13 gum disease,14 polycystic ovary syndrome,15 multiple sclerosis, gestational diabetes, and sickle cell disease.16Preeclampsia is also more common in pregnancies resulting from egg donation, donor insemination, or in vitro fertilization. If you are at very high risk of preeclampsia, your doctor may recommend that you start taking low-dose aspirin after at least 12 weeks of pregnancy.2 [top] - Visit your health care provider for a preconception visit to discuss what you can do to lower your risk. Your health care provider may recommend ways to control your blood pressure, if needed, by limiting your salt intake, exercising regularly, and losing weight if you are overweight. - If you take medication to control your blood pressure, ask your health care provider if you should change it. Some medications should not be used during pregnancy. Your health care provider may be able to recommend safer alternatives. - Get regular prenatal care, including regular blood pressure checks, urine tests for protein, as well as regular weight checks. - Avoid alcohol and tobacco. - Talk with your health care provider about any drugs or supplements that you take or are thinking of taking, including vitamins and herbs. Follow your provider's recommendations about prescription and other medications. - | Preeclampsia and Eclampsia Overview Preeclampsia (pree-i-KLAMP-see-uh) and eclampsia (ih-KLAMP-see-uh) are pregnancy-related high blood pressure disorders. In preeclampsia, the mother’s high blood pressure reduces the blood supply to the fetus, which may get less oxygen and fewer nutrients. Eclampsia is when pregnant women with preeclampsia develop seizures or coma. NICHD and other agencies are working to understand what causes these conditions and how they can be prevented and better treated. About Preeclampsia and Eclampsia Preeclampsia and eclampsia are part of the spectrum of high blood pressure, or hypertensive, disorders that can occur during pregnancy.At the mild end of the spectrum is gestational hypertension, which occurs when a woman who previously had normal blood pressure develops high blood pressure when she is more than 20 weeks pregnant and her blood pressure returns to normal within 12 weeks after delivery. This problem usually occurs without other symptoms. In many cases, gestational hypertension does not harm the mother or fetus. Severe gestational hypertension, however, may be associated with preterm birth and infants who are small for their age at birth.1 And about 15% to 25% of women with gestational hypertension go on to develop preeclampsia.2Preeclampsia is similar to gestational hypertension, because it also describes high blood pressure at or after 20 weeks of pregnancy in a woman whose blood pressure was normal before pregnancy. But preeclampsia can also include blood pressure at or greater than 140/90 mmHg, increased swelling, and protein in the urine.3 The condition can be serious and is a leading cause of preterm birth (before 37 weeks of pregnancy).4 If it is severe enough to affect brain function, causing seizures or coma, it is called eclampsia.One of the serious complications of hypertensive disorders in pregnancy is HELLP syndrome, a situation in which a pregnant woman with preeclampsia or eclampsia suffers damage to the liver and blood cells. The letters in the name HELLP stand for the following problems:- H - Hemolysis, in which oxygen-carrying red blood cells break down - EL - Elevated Liver enzymes, showing damage to the liver - LP - Low Platelet count, meaning that the cells responsible for stopping bleeding are low What causes preeclampsia and eclampsia? The causes of preeclampsia and eclampsia are not known. These disorders previously were believed to be caused by a toxin, called “toxemia,” in the blood, but health care providers now know that is not true. Nevertheless, preeclampsia is sometimes still referred to as “toxemia.”To learn more about preeclampsia and eclampsia, scientists are investigating many factors that could contribute to the development and progression of these diseases, including:- Placental abnormalities, such as insufficient blood flow - Genetic factors - Environmental exposures - Nutritional factors - Maternal immunology and autoimmune disorders - Cardiovascular and inflammatory changes - Hormonal imbalances What are the risks of preeclampsia & eclampsia to the mother? - Risks During Pregnancy Preeclampsia during pregnancy is mild in 75% of cases.1 However, a woman can progress from mild to severe preeclampsia or to full eclampsia very quickly―even in a matter of days. Both preeclampsia and eclampsia can cause serious health problems for the mother and infant. Women with preeclampsia are at increased risk for damage to the kidneys, liver, brain, and other organ and blood systems. Preeclampsia may also affect the placenta. The condition could lead to a separation of the placenta from the uterus (referred to as placental abruption), preterm birth, and pregnancy loss or stillbirth. In some cases, preeclampsia can lead to organ failure or stroke. In severe cases, preeclampsia can develop into eclampsia, which includes seizures. Seizures in eclampsia may cause a woman to lose consciousness and twitch uncontrollably.2 If the fetus is not delivered, these conditions can cause the death of the mother and/or the fetus. Expecting mothers rarely die from preeclampsia in the developed world, but it is still a major cause of illness and death globally.3 According to the World Health Organization, preeclampsia and eclampsia cause 14% of maternal deaths each year, or about 50,000 to 75,000 women worldwide.4 - Risks After Pregnancy In “uncomplicated preeclampsia,” the mother’s high blood pressure and other symptoms usually go back to normal within 6 weeks of the infant’s birth. However, studies have shown that women who had preeclampsia are four times more likely to later develop hypertension (high blood pressure) and are twice as likely to later develop ischemic heart disease (reduced blood supply to the heart muscle, which can cause heart attacks), a blood clot in a vein, and stroke as are women who did not have preeclampsia.5 Less commonly, mothers who had preeclampsia could experience permanent damage to their organs, such as their kidneys and liver. They could also experience fluid in the lungs. In the days following birth, women with preeclampsia remain at increased risk for developing eclampsia and seizures.3,6 What are the risks of preeclampsia & eclampsia to the fetus? Preeclampsia may be related to problems with the placenta early in the pregnancy.1 Such problems pose risks to the fetus, including:- Lack of oxygen and nutrients, which can impair fetal growth - Preterm birth - Stillbirth if placental abruption (separation of the placenta from the uterine wall) leads to heavy bleeding in the mother - Death: According to the Preeclampsia Foundation , each year, about 10,500 infants in the United States and about half a million worldwide die due to preeclampsia.2 Stillbirths are more likely to occur when the mother has a more severe form of preeclampsia, including HELLP syndrome.Infants whose mothers had preeclampsia are also at increased risk for later problems, even if they were born at full term (39 weeks of pregnancy).3 Infants born preterm due to preeclampsia face a higher risk of some long-term health issues, mostly related to being born early, including learning disorders, cerebral palsy, epilepsy, deafness, and blindness. Infants born preterm may also have to be hospitalized for a long time after birth and may be smaller than infants born full term. Infants who experienced poor growth in the uterus may later be at higher risk of diabetes, congestive heart failure, and high blood pressure.4 How many women are affected by or at risk of preeclampsia? The exact number of women who develop preeclampsia is not known. Some estimates suggest that preeclampsia affects 2% to 8% of all pregnancies globally and about 3.4% in the United States.1,2The condition is estimated to account for 10% to 15% of maternal deaths worldwide.1 Disorders related to high blood pressure are the second leading cause of stillbirths and early neonatal deaths in developing nations.3In addition, HELLP syndrome occurs in about 10% to 20% of all women with severe preeclampsia or eclampsia.4Although preeclampsia occurs primarily in first pregnancies, a woman who had preeclampsia in a previous pregnancy is seven times more likely to develop preeclampsia in a later pregnancy.5Other factors that can increase a woman's risk include:5- Chronic high blood pressure or kidney disease before pregnancy - High blood pressure or preeclampsia in an earlier pregnancy - Obesity. Overweight or obese women are also more likely to have preeclampsia in more than one pregnancy.6 - Age. Women older than 40 are at higher risk. - Multiple gestation (being pregnant with more than one fetus) - African American ethnicity. Also, among women who have had preeclampsia before, non-white women are more likely than white women to develop preeclampsia again in a later pregnancy.6 - Family history of preeclampsia. According to the World Health Organization, among women who have had preeclampsia, about 20% to 40% of their daughters and 11% to 37% of their sisters also will get the disorder.7Preeclampsia is also more common among women who have histories of certain health conditions, such as migraines,8 diabetes,9 rheumatoid arthritis,10 lupus,11 scleroderma,12 urinary tract infections,13 gum disease,14 polycystic ovary syndrome,15 multiple sclerosis, gestational diabetes, and sickle cell disease.16Preeclampsia is also more common in pregnancies resulting from egg donation, donor insemination, or in vitro fertilization.The U.S. Preventative Services Task Force recommends that women who are at high risk for preeclampsia take low-dose aspirin starting after 12 weeks of pregnancy to prevent preeclampsia.17 Women who are pregnant or who are thinking about getting pregnant should talk with their health care provider about preeclampsia risk and ways to reduce the risk. What are the symptoms of preeclampsia, eclampsia, & HELLP syndrome? - Preeclampsia Possible symptoms of preeclampsia include: - High blood pressure - Too much protein in the urine - Swelling in a woman's face and hands (a woman's feet might swell too, but swollen feet are common during pregnancy and may not signal a problem) - Systemic problems, such as headache, blurred vision, and right upper quadrant abdominal pain - High blood pressure - Too much protein in the urine - Swelling in a woman's face and hands (a woman's feet might swell too, but swollen feet are common during pregnancy and may not signal a problem) - Systemic problems, such as headache, blurred vision, and right upper quadrant abdominal pain - Eclampsia The following symptoms are cause for immediate concern:1 - Seizures - Severe headache - Vision problems, such as temporary blindness - Abdominal pain, especially in the upper right area of the belly - Nausea and vomiting - Smaller urine output or not urinating very often - Seizures - Severe headache - Vision problems, such as temporary blindness - Abdominal pain, especially in the upper right area of the belly - Nausea and vomiting - Smaller urine output or not urinating very often - HELLP Syndrome HELLP syndrome can lead to serious complications, including liver failure and death.1 A pregnant woman with HELLP syndrome might bleed or bruise easily and/or experience abdominal pain, nausea or vomiting, headache, or extreme fatigue. Although most women who develop HELLP syndrome already have high blood pressure and preeclampsia, sometimes the syndrome is the first sign. In addition, HELLP syndrome can occur without a woman having either high blood pressure or protein in her urine. How do health care providers diagnose preeclampsia, eclampsia, and HELLP syndrome? A health care provider will check a pregnant woman’s blood pressure and urine during each prenatal visit. If the blood pressure reading is considered high (140/90 or higher), especially after the 20th week of pregnancy, the health care provider will likely perform blood tests and more extensive lab tests to look for extra protein in the urine (called proteinuria) as well as other symptoms.The American College of Obstetricians and Gynecologists provides the following criteria for a diagnosis of gestational hypertension, preeclampsia, eclampsia, and HELLP syndrome.Gestational hypertension is diagnosed if a pregnant woman has high blood pressure but no protein in the urine. Gestational hypertension occurs when women whose blood pressure levels were normal before pregnancy develop high blood pressure after 20 weeks of pregnancy. Gestational hypertension can progress into preeclampsia.1Mild preeclampsia is diagnosed when a pregnant woman has:2- Systolic blood pressure (top number) of 140 mmHg or higher or diastolic blood pressure (bottom number) of 90 mmHg or higher and either - Urine with 0.3 or more grams of protein in a 24-hour specimen (a collection of every drop of urine within 24 hours) or a protein-to-creatinine ratio greater than 0.3 or - Blood tests that show kidney or liver dysfunction - Fluid in the lungs and difficulty breathing - Visual impairmentsSevere preeclampsia occurs when a pregnant woman has any of the following:- Systolic blood pressure of 160 mmHg or higher or diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while the patient is on bed rest - Urine with 5 or more grams of protein in a 24-hour specimen or 3 or more grams of protein on 2 random urine samples collected at least 4 hours apart - Test results suggesting kidney or liver damage—for example, blood tests that reveal low numbers of platelets or high liver enzymes - Severe, unexplained stomach pain that does not respond to medication - Symptoms that include visual disturbances, difficulty breathing, or fluid buildup3Eclampsia occurs when women with preeclampsia develop seizures. The seizures can happen before or during labor or after the baby is delivered. HELLP syndrome is diagnosed when laboratory tests show hemolysis (burst red blood cells release hemoglobin into the blood plasma), elevated liver enzymes, and low platelets. There also may or may not be extra protein in the urine.4Some women may also be diagnosed with superimposed preeclampsia—a situation in which the woman develops preeclampsia on top of high blood pressure that was present before she got pregnant. Health care providers look for an increase in blood pressure and either protein in the urine, fluid buildup, or both for a diagnosis of superimposed preeclampsia.In addition to tests that might diagnose preeclampsia or similar problems, health care providers may do other tests to assess the health of the mother and fetus, including:- Blood tests to see how well the mother's liver and kidneys are working - Blood tests to check blood platelet levels to see how well the mother’s blood is clotting - Blood tests to count the total number of red blood cells in the mother’s blood - A maternal weight check - An ultrasound to assess the fetus’s size - A check of the fetus's heart rate - A physical exam to look for swelling in the mother’s face, hands, or legs as well as abdominal tenderness or an enlarged liver What are the treatments for preeclampsia, eclampsia, & HELLP syndrome? - Preeclampsia Treatment If the pregnancy is at 37 weeks or later, the health care provider will usually want to deliver the fetus to treat preeclampsia and avoid further complications. If the pregnancy is at less than 37 weeks, however, the woman and her health care provider may consider treatment options that give the fetus more time to develop, depending on how severe the condition is. A health care provider may consider the following options: - If the preeclampsia is mild, it may be possible to wait to deliver. To help prevent further complications, the health care provider may ask the woman to go on bed rest to try to lower blood pressure and increase the blood flow to the placenta. - Close monitoring of the woman and her fetus will be needed. Tests for the mother might include blood and urine tests to see if the preeclampsia is progressing, such as tests to assess platelet counts, liver enzymes, kidney function, and urinary protein levels. Tests for the fetus might include ultrasound, heart rate monitoring, assessment of fetal growth, and amniotic fluid assessment. - Anticonvulsive medication, such as magnesium sulfate, might be used to prevent a seizure. - In some cases, such as with severe preeclampsia, the woman will be admitted to the hospital so she can be monitored closely and continuously. Treatment in the hospital might include intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs. When a woman has severe preeclampsia and is at 34 weeks of pregnancy or later, the American College of Obstetricians and Gynecologists recommends delivery as soon as medically possible. If the pregnancy is at less than 34 weeks, health care providers will probably prescribe corticosteroids to help speed up the maturation of the fetal lungs before attempting delivery.2 Preterm delivery may be necessary, even if that means likely complications for the infant, because of the risk of severe maternal complications. The symptoms of preeclampsia usually go away within 6 weeks of delivery.3 - If the preeclampsia is mild, it may be possible to wait to deliver. To help prevent further complications, the health care provider may ask the woman to go on bed rest to try to lower blood pressure and increase the blood flow to the placenta. - Close monitoring of the woman and her fetus will be needed. Tests for the mother might include blood and urine tests to see if the preeclampsia is progressing, such as tests to assess platelet counts, liver enzymes, kidney function, and urinary protein levels. Tests for the fetus might include ultrasound, heart rate monitoring, assessment of fetal growth, and amniotic fluid assessment. - Anticonvulsive medication, such as magnesium sulfate, might be used to prevent a seizure. - In some cases, such as with severe preeclampsia, the woman will be admitted to the hospital so she can be monitored closely and continuously. Treatment in the hospital might include intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs. - Eclampsia Treatment Eclampsia—the onset of seizures in a woman with preeclampsia—is considered a medical emergency. Immediate treatment, usually in a hospital, is needed to stop the mother's seizures, treat blood pressure levels that are too high, and deliver the fetus. Magnesium sulfate (a type of mineral) may be given to treat active seizures and prevent future seizures. Antihypertensive medications may be given to lower the blood pressure. - HELLP Syndrome Treatment HELLP syndrome, a severe complication of preeclampsia and eclampsia, can lead to serious complications for the mother, including liver failure and death, as well as the fetus. The health care provider may consider the following treatments after a diagnosis of HELLP syndrome: - Delivery of the fetus - Hospitalization to provide intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs.4 - Delivery of the fetus - Hospitalization to provide intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs.4 Other FAQs - If I have high blood pressure, can I take steps to prevent problems like preeclampsia during pregnancy? If you currently have chronic hypertension (high blood pressure not due to pregnancy), you may be at higher-than-average risk for getting preeclampsia during pregnancy. Your risk is also higher if you had gestational hypertension (high blood pressure that occurs only during pregnancy) or preeclampsia with a previous pregnancy, if you are obese, or if you have other risk factors.1 Talk with your health care provider about how hypertension might affect your pregnancy and what you can do to lower your risk. Before You Get Pregnant - Visit your health care provider for a preconception visit to discuss what you can do to lower your risk. Your health care provider may recommend ways to control your blood pressure, if needed, by limiting your salt intake, exercising regularly, and losing weight if you are overweight. - If you take medication to control your blood pressure, ask your health care provider if you should change it. Some medications should not be used during pregnancy. Your health care provider may be able to recommend safer alternatives. While You Are Pregnant - Get regular prenatal care, including regular blood pressure checks, urine tests for protein, as well as regular weight checks. - Avoid alcohol and tobacco. - Talk with your health care provider about any drugs or supplements that you take or are thinking of taking, including vitamins and herbs. Follow your provider's recommendations about prescription and other medications. - If you are at very high risk of preeclampsia, your doctor may recommend that you start taking low-dose aspirin after at least 12 weeks of pregnancy.2 [top] - Visit your health care provider for a preconception visit to discuss what you can do to lower your risk. Your health care provider may recommend ways to control your blood pressure, if needed, by limiting your salt intake, exercising regularly, and losing weight if you are overweight. - If you take medication to control your blood pressure, ask your health care provider if you should change it. Some medications should not be used during pregnancy. Your health care provider may be able to recommend safer alternatives. - Get regular prenatal care, including regular blood pressure checks, urine tests for protein, as well as regular weight checks. - Avoid alcohol and tobacco. - Talk with your health care provider about any drugs or supplements that you take or are thinking of taking, including vitamins and herbs. Follow your provider's recommendations about prescription and other medications. - If you are at very high risk of preeclampsia, your doctor may recommend that you start taking low-dose aspirin after at least 12 weeks of pregnancy.2 - If I had preeclampsia with a previous pregnancy, will I have it again in later pregnancies? If you had preeclampsia during your first pregnancy, your risk of developing preeclampsia again is about 15%.3 Your risk is even higher if you delivered your first child before 28 weeks of pregnancy or if you are overweight or obese.3 Your risk of having preeclampsia again is also higher if you developed preeclampsia early in your previous pregnancy, if you developed chronic hypertension or diabetes after the first pregnancy, if you had in vitro fertilization, or if you are carrying more than one fetus. Having severe preeclampsia or HELLP syndrome during the first pregnancy also raises your risk. If you had HELLP syndrome during a pregnancy, you have about a 20% chance of getting some form of gestational hypertension again.4 [top] prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | {
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Risk factors include: - History of preeclampsia. A personal or family history of preeclampsia significantly raises your risk of preeclampsia. - Chronic hypertension. If you already have chronic hypertension, you have a higher risk of developing preeclampsia. - First pregnancy. The risk of developing preeclampsia is highest during your first pregnancy. - New paternity. Each pregnancy with a new partner increases the risk of preeclampsia more than does a second or third pregnancy with the same partner. - Age. The risk of preeclampsia is higher for very young pregnant women as well as pregnant women older than 40. - Obesity. The risk of preeclampsia is higher if you're obese. - Multiple pregnancy. Preeclampsia is more common in women who are carrying twins, triplets or other multiples. - Interval between pregnancies. Having babies less than two years or more than 10 years apart leads to a higher risk of preeclampsia. - History of certain conditions. Having certain conditions before you become pregnant - such as chronic high blood pressure, migraines, type 1 or type 2 diabetes, kidney disease, a tendency to develop blood clots, or lupus - increases your risk of preeclampsia. - In vitro fertilization. Your risk of preeclampsia is increased if your baby was conceived with in vitro fertilization. | Preeclampsia Overview Preeclampsia is a pregnancy complication characterized by high blood pressure and signs of damage to another organ system, most often the liver and kidneys. Preeclampsia usually begins after 20 weeks of pregnancy in women whose blood pressure had been normal. Even a slight rise in blood pressure may be a sign of preeclampsia. Left untreated, preeclampsia can lead to serious - even fatal - complications for both you and your baby. If you have preeclampsia, the only cure is delivery of your baby. If you're diagnosed with preeclampsia too early in your pregnancy to deliver your baby, you and your doctor face a challenging task. Your baby needs more time to mature, but you need to avoid putting yourself or your baby at risk of serious complications. Symptoms Preeclampsia sometimes develops without any symptoms. High blood pressure may develop slowly, or it may have a sudden onset. Monitoring your blood pressure is an important part of prenatal care because the first sign of preeclampsia is commonly a rise in blood pressure. Blood pressure that exceeds 140/90 millimeters of mercury (mm Hg) or greater - documented on two occasions, at least four hours apart - is abnormal. Other signs and symptoms of preeclampsia may include: - Excess protein in your urine (proteinuria) or additional signs of kidney problems - Severe headaches - Changes in vision, including temporary loss of vision, blurred vision or light sensitivity - Upper abdominal pain, usually under your ribs on the right side - Nausea or vomiting - Decreased urine output - Decreased levels of platelets in your blood (thrombocytopenia) - Impaired liver function - Shortness of breath, caused by fluid in your lungs Sudden weight gain and swelling (edema) - particularly in your face and hands - may occur with preeclampsia. But these also occur in many normal pregnancies, so they're not considered reliable signs of preeclampsia. Make sure you attend your prenatal visits so that your care provider can monitor your blood pressure. Contact your doctor immediately or go to an emergency room if you have severe headaches, blurred vision or other visual disturbance, severe pain in your abdomen, or severe shortness of breath. Because headaches, nausea, and aches and pains are common pregnancy complaints, it's difficult to know when new symptoms are simply part of being pregnant and when they may indicate a serious problem - especially if it's your first pregnancy. If you're concerned about your symptoms, contact your doctor. Causes The exact cause of preeclampsia involves several factors. Experts believe it begins in the placenta - the organ that nourishes the fetus throughout pregnancy. Early in pregnancy, new blood vessels develop and evolve to efficiently send blood to the placenta. In women with preeclampsia, these blood vessels don't seem to develop or function properly. They're narrower than normal blood vessels and react differently to hormonal signaling, which limits the amount of blood that can flow through them. Causes of this abnormal development may include: - Insufficient blood flow to the uterus - Damage to the blood vessels - A problem with the immune system - Certain genes Preeclampsia is classified as one of four high blood pressure disorders that can occur during pregnancy. The other three are: - Gestational hypertension. Women with gestational hypertension have high blood pressure but no excess protein in their urine or other signs of organ damage. Some women with gestational hypertension eventually develop preeclampsia. - Chronic hypertension. Chronic hypertension is high blood pressure that was present before pregnancy or that occurs before 20 weeks of pregnancy. But because high blood pressure usually doesn't have symptoms, it may be hard to determine when it began. - Chronic hypertension with superimposed preeclampsia. This condition occurs in women who have been diagnosed with chronic high blood pressure before pregnancy, but then develop worsening high blood pressure and protein in the urine or other health complications during pregnancy. Risk factors Preeclampsia develops only as a complication of pregnancy. Risk factors include: - History of preeclampsia. A personal or family history of preeclampsia significantly raises your risk of preeclampsia. - Chronic hypertension. If you already have chronic hypertension, you have a higher risk of developing preeclampsia. - First pregnancy. The risk of developing preeclampsia is highest during your first pregnancy. - New paternity. Each pregnancy with a new partner increases the risk of preeclampsia more than does a second or third pregnancy with the same partner. - Age. The risk of preeclampsia is higher for very young pregnant women as well as pregnant women older than 40. - Obesity. The risk of preeclampsia is higher if you're obese. - Multiple pregnancy. Preeclampsia is more common in women who are carrying twins, triplets or other multiples. - Interval between pregnancies. Having babies less than two years or more than 10 years apart leads to a higher risk of preeclampsia. - History of certain conditions. Having certain conditions before you become pregnant - such as chronic high blood pressure, migraines, type 1 or type 2 diabetes, kidney disease, a tendency to develop blood clots, or lupus - increases your risk of preeclampsia. - In vitro fertilization. Your risk of preeclampsia is increased if your baby was conceived with in vitro fertilization. Complications The more severe your preeclampsia and the earlier it occurs in your pregnancy, the greater the risks for you and your baby. Preeclampsia may require induced labor and delivery. Delivery by cesarean delivery (C-section) may be necessary if there are clinical or obstetric conditions that require a speedy delivery. Your obstetric provider will assist you in deciding what type of delivery is correct for your condition. Complications of preeclampsia may include: - Fetal growth restriction. Preeclampsia affects the arteries carrying blood to the placenta. If the placenta doesn't get enough blood, your baby may receive inadequate blood and oxygen and fewer nutrients. This can lead to slow growth known as fetal growth restriction, low birth weight or preterm birth. - Preterm birth. If you have preeclampsia with severe features, you may need to be delivered early, to save the life of you and your baby. Prematurity can lead to breathing and other problems for your baby. Your health care provider will help you understand when is the ideal time for your delivery. - Placental abruption. Preeclampsia increases your risk of placental abruption, a condition in which the placenta separates from the inner wall of your uterus before delivery. Severe abruption can cause heavy bleeding, which can be life-threatening for both you and your baby. - HELLP syndrome. HELLP - which stands for hemolysis (the destruction of red blood cells), elevated liver enzymes and low platelet count - syndrome is a more severe form of preeclampsia, and can rapidly become life-threatening for both you and your baby. Symptoms of HELLP syndrome include nausea and vomiting, headache, and upper right abdominal pain. HELLP syndrome is particularly dangerous because it represents damage to several organ systems. On occasion, it may develop suddenly, even before high blood pressure is detected or it may develop without any symptoms at all. - Eclampsia. When preeclampsia isn't controlled, eclampsia - which is essentially preeclampsia plus seizures - can develop. It is very difficult to predict which patients will have preeclampsia that is severe enough to result in eclampsia. Often, there are no symptoms or warning signs to predict eclampsia. Because eclampsia can have serious consequences for both mom and baby, delivery becomes necessary, regardless of how far along the pregnancy is. - Other organ damage. Preeclampsia may result in kidney, liver, lung, heart, or eyes, and may cause a stroke or other brain injury. The amount of injury to other organs depends on the severity of preeclampsia. - Cardiovascular disease. Having preeclampsia may increase your risk of future heart and blood vessel (cardiovascular) disease. The risk is even greater if you've had preeclampsia more than once or you've had a preterm delivery. To minimize this risk, after delivery try to maintain your ideal weight, eat a variety of fruits and vegetables, exercise regularly, and don't smoke. Diagnosis To diagnose preeclampsia, you have to have high blood pressure and one or more of the following complications after the 20th week of pregnancy: - Protein in your urine (proteinuria) - A low platelet count - Impaired liver function - Signs of kidney trouble other than protein in the urine - Fluid in the lungs (pulmonary edema) - New-onset headaches or visual disturbances Previously, preeclampsia was only diagnosed if high blood pressure and protein in the urine were present. However, experts now know that it's possible to have preeclampsia, yet never have protein in the urine. A blood pressure reading in excess of 140/90 mm Hg is abnormal in pregnancy. However, a single high blood pressure reading doesn't mean you have preeclampsia. If you have one reading in the abnormal range - or a reading that's substantially higher than your usual blood pressure - your doctor will closely observe your numbers. Having a second abnormal blood pressure reading four hours after the first may confirm your doctor's suspicion of preeclampsia. Your doctor may have you come in for additional blood pressure readings and blood and urine tests. Tests that may be needed If your doctor suspects preeclampsia, you may need certain tests, including: - Blood tests. Your doctor will order liver function tests, kidney function tests and also measure your platelets - the cells that help blood clot. - Urine analysis. Your doctor will ask you to collect your urine for 24 hours, for measurement of the amount of protein in your urine. A single urine sample that measures the ratio of protein to creatinine - a chemical that's always present in the urine - also may be used to make the diagnosis. - Fetal ultrasound. Your doctor may also recommend close monitoring of your baby's growth, typically through ultrasound. The images of your baby created during the ultrasound exam allow your doctor to estimate fetal weight and the amount of fluid in the uterus (amniotic fluid). - Nonstress test or biophysical profile. A nonstress test is a simple procedure that checks how your baby's heart rate reacts when your baby moves. A biophysical profile uses an ultrasound to measure your baby's breathing, muscle tone, movement and the volume of amniotic fluid in your uterus. Treatment The only cure for preeclampsia is delivery. You're at increased risk of seizures, placental abruption, stroke and possibly severe bleeding until your blood pressure decreases. Of course, if it's too early in your pregnancy, delivery may not be the best thing for your baby. If you're diagnosed with preeclampsia, your doctor will let you know how often you'll need to come in for prenatal visits - likely more frequently than what's typically recommended for pregnancy. You'll also need more frequent blood tests, ultrasounds and nonstress tests than would be expected in an uncomplicated pregnancy. Medications Possible treatment for preeclampsia may include: - Medications to lower blood pressure. These medications, called antihypertensives, are used to lower your blood pressure if it's dangerously high. Blood pressure in the 140/90 millimeters of mercury (mm Hg) range generally isn't treated. Although there are many different types of antihypertensive medications, a number of them aren't safe to use during pregnancy. Discuss with your doctor whether you need to use an antihypertensive medicine in your situation to control your blood pressure. - Corticosteroids. If you have severe preeclampsia or HELLP syndrome, corticosteroid medications can temporarily improve liver and platelet function to help prolong your pregnancy. Corticosteroids can also help your baby's lungs become more mature in as little as 48 hours - an important step in preparing a premature baby for life outside the womb. - Anticonvulsant medications. If your preeclampsia is severe, your doctor may prescribe an anticonvulsant medication, such as magnesium sulfate, to prevent a first seizure. Bed rest Bed rest used to be routinely recommended for women with preeclampsia. But research hasn't shown a benefit from this practice, and it can increase your risk of blood clots, as well as impact your economic and social lives. For most women, bed rest is no longer recommended. Hospitalization Severe preeclampsia may require that you be hospitalized. In the hospital, your doctor may perform regular nonstress tests or biophysical profiles to monitor your baby's well-being and measure the volume of amniotic fluid. A lack of amniotic fluid is a sign of poor blood supply to the baby. Delivery If you're diagnosed with preeclampsia near the end of your pregnancy, your doctor may recommend inducing labor right away. The readiness of your cervix - whether it's beginning to open (dilate), thin (efface) and soften (ripen) - also may be a factor in determining whether or when labor will be induced. In severe cases, it may not be possible to consider your baby's gestational age or the readiness of your cervix. If it's not possible to wait, your doctor may induce labor or schedule a C-section right away. During delivery, you may be given magnesium sulfate intravenously to prevent seizures. If you need pain-relieving medication after your delivery, ask your doctor what you should take. NSAIDs, such as ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve), can increase your blood pressure. prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | {
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Although preeclampsia occurs primarily in first pregnancies, a woman who had preeclampsia in a previous pregnancy is seven times more likely to develop preeclampsia in a later pregnancy.5Other factors that can increase a woman's risk include:5- Chronic high blood pressure or kidney disease before pregnancy - High blood pressure or preeclampsia in an earlier pregnancy - Obesity. Overweight or obese women are also more likely to have preeclampsia in more than one pregnancy.6 - Age. Women older than 40 are at higher risk. - Multiple gestation (being pregnant with more than one fetus) - African American ethnicity. The U.S. Preventative Services Task Force recommends that women who are at high risk for preeclampsia take low-dose aspirin starting after 12 weeks of pregnancy to prevent preeclampsia.17 Women who are pregnant or who are thinking about getting pregnant should talk with their health care provider about preeclampsia risk and ways to reduce the risk. | Preeclampsia and Eclampsia Overview Preeclampsia (pree-i-KLAMP-see-uh) and eclampsia (ih-KLAMP-see-uh) are pregnancy-related high blood pressure disorders. In preeclampsia, the mother’s high blood pressure reduces the blood supply to the fetus, which may get less oxygen and fewer nutrients. Eclampsia is when pregnant women with preeclampsia develop seizures or coma. NICHD and other agencies are working to understand what causes these conditions and how they can be prevented and better treated. About Preeclampsia and Eclampsia Preeclampsia and eclampsia are part of the spectrum of high blood pressure, or hypertensive, disorders that can occur during pregnancy.At the mild end of the spectrum is gestational hypertension, which occurs when a woman who previously had normal blood pressure develops high blood pressure when she is more than 20 weeks pregnant and her blood pressure returns to normal within 12 weeks after delivery. This problem usually occurs without other symptoms. In many cases, gestational hypertension does not harm the mother or fetus. Severe gestational hypertension, however, may be associated with preterm birth and infants who are small for their age at birth.1 And about 15% to 25% of women with gestational hypertension go on to develop preeclampsia.2Preeclampsia is similar to gestational hypertension, because it also describes high blood pressure at or after 20 weeks of pregnancy in a woman whose blood pressure was normal before pregnancy. But preeclampsia can also include blood pressure at or greater than 140/90 mmHg, increased swelling, and protein in the urine.3 The condition can be serious and is a leading cause of preterm birth (before 37 weeks of pregnancy).4 If it is severe enough to affect brain function, causing seizures or coma, it is called eclampsia.One of the serious complications of hypertensive disorders in pregnancy is HELLP syndrome, a situation in which a pregnant woman with preeclampsia or eclampsia suffers damage to the liver and blood cells. The letters in the name HELLP stand for the following problems:- H - Hemolysis, in which oxygen-carrying red blood cells break down - EL - Elevated Liver enzymes, showing damage to the liver - LP - Low Platelet count, meaning that the cells responsible for stopping bleeding are low What causes preeclampsia and eclampsia? The causes of preeclampsia and eclampsia are not known. These disorders previously were believed to be caused by a toxin, called “toxemia,” in the blood, but health care providers now know that is not true. Nevertheless, preeclampsia is sometimes still referred to as “toxemia.”To learn more about preeclampsia and eclampsia, scientists are investigating many factors that could contribute to the development and progression of these diseases, including:- Placental abnormalities, such as insufficient blood flow - Genetic factors - Environmental exposures - Nutritional factors - Maternal immunology and autoimmune disorders - Cardiovascular and inflammatory changes - Hormonal imbalances What are the risks of preeclampsia & eclampsia to the mother? - Risks During Pregnancy Preeclampsia during pregnancy is mild in 75% of cases.1 However, a woman can progress from mild to severe preeclampsia or to full eclampsia very quickly―even in a matter of days. Both preeclampsia and eclampsia can cause serious health problems for the mother and infant. Women with preeclampsia are at increased risk for damage to the kidneys, liver, brain, and other organ and blood systems. Preeclampsia may also affect the placenta. The condition could lead to a separation of the placenta from the uterus (referred to as placental abruption), preterm birth, and pregnancy loss or stillbirth. In some cases, preeclampsia can lead to organ failure or stroke. In severe cases, preeclampsia can develop into eclampsia, which includes seizures. Seizures in eclampsia may cause a woman to lose consciousness and twitch uncontrollably.2 If the fetus is not delivered, these conditions can cause the death of the mother and/or the fetus. Expecting mothers rarely die from preeclampsia in the developed world, but it is still a major cause of illness and death globally.3 According to the World Health Organization, preeclampsia and eclampsia cause 14% of maternal deaths each year, or about 50,000 to 75,000 women worldwide.4 - Risks After Pregnancy In “uncomplicated preeclampsia,” the mother’s high blood pressure and other symptoms usually go back to normal within 6 weeks of the infant’s birth. However, studies have shown that women who had preeclampsia are four times more likely to later develop hypertension (high blood pressure) and are twice as likely to later develop ischemic heart disease (reduced blood supply to the heart muscle, which can cause heart attacks), a blood clot in a vein, and stroke as are women who did not have preeclampsia.5 Less commonly, mothers who had preeclampsia could experience permanent damage to their organs, such as their kidneys and liver. They could also experience fluid in the lungs. In the days following birth, women with preeclampsia remain at increased risk for developing eclampsia and seizures.3,6 What are the risks of preeclampsia & eclampsia to the fetus? Preeclampsia may be related to problems with the placenta early in the pregnancy.1 Such problems pose risks to the fetus, including:- Lack of oxygen and nutrients, which can impair fetal growth - Preterm birth - Stillbirth if placental abruption (separation of the placenta from the uterine wall) leads to heavy bleeding in the mother - Death: According to the Preeclampsia Foundation , each year, about 10,500 infants in the United States and about half a million worldwide die due to preeclampsia.2 Stillbirths are more likely to occur when the mother has a more severe form of preeclampsia, including HELLP syndrome.Infants whose mothers had preeclampsia are also at increased risk for later problems, even if they were born at full term (39 weeks of pregnancy).3 Infants born preterm due to preeclampsia face a higher risk of some long-term health issues, mostly related to being born early, including learning disorders, cerebral palsy, epilepsy, deafness, and blindness. Infants born preterm may also have to be hospitalized for a long time after birth and may be smaller than infants born full term. Infants who experienced poor growth in the uterus may later be at higher risk of diabetes, congestive heart failure, and high blood pressure.4 How many women are affected by or at risk of preeclampsia? The exact number of women who develop preeclampsia is not known. Some estimates suggest that preeclampsia affects 2% to 8% of all pregnancies globally and about 3.4% in the United States.1,2The condition is estimated to account for 10% to 15% of maternal deaths worldwide.1 Disorders related to high blood pressure are the second leading cause of stillbirths and early neonatal deaths in developing nations.3In addition, HELLP syndrome occurs in about 10% to 20% of all women with severe preeclampsia or eclampsia.4Although preeclampsia occurs primarily in first pregnancies, a woman who had preeclampsia in a previous pregnancy is seven times more likely to develop preeclampsia in a later pregnancy.5Other factors that can increase a woman's risk include:5- Chronic high blood pressure or kidney disease before pregnancy - High blood pressure or preeclampsia in an earlier pregnancy - Obesity. Overweight or obese women are also more likely to have preeclampsia in more than one pregnancy.6 - Age. Women older than 40 are at higher risk. - Multiple gestation (being pregnant with more than one fetus) - African American ethnicity. Also, among women who have had preeclampsia before, non-white women are more likely than white women to develop preeclampsia again in a later pregnancy.6 - Family history of preeclampsia. According to the World Health Organization, among women who have had preeclampsia, about 20% to 40% of their daughters and 11% to 37% of their sisters also will get the disorder.7Preeclampsia is also more common among women who have histories of certain health conditions, such as migraines,8 diabetes,9 rheumatoid arthritis,10 lupus,11 scleroderma,12 urinary tract infections,13 gum disease,14 polycystic ovary syndrome,15 multiple sclerosis, gestational diabetes, and sickle cell disease.16Preeclampsia is also more common in pregnancies resulting from egg donation, donor insemination, or in vitro fertilization.The U.S. Preventative Services Task Force recommends that women who are at high risk for preeclampsia take low-dose aspirin starting after 12 weeks of pregnancy to prevent preeclampsia.17 Women who are pregnant or who are thinking about getting pregnant should talk with their health care provider about preeclampsia risk and ways to reduce the risk. What are the symptoms of preeclampsia, eclampsia, & HELLP syndrome? - Preeclampsia Possible symptoms of preeclampsia include: - High blood pressure - Too much protein in the urine - Swelling in a woman's face and hands (a woman's feet might swell too, but swollen feet are common during pregnancy and may not signal a problem) - Systemic problems, such as headache, blurred vision, and right upper quadrant abdominal pain - High blood pressure - Too much protein in the urine - Swelling in a woman's face and hands (a woman's feet might swell too, but swollen feet are common during pregnancy and may not signal a problem) - Systemic problems, such as headache, blurred vision, and right upper quadrant abdominal pain - Eclampsia The following symptoms are cause for immediate concern:1 - Seizures - Severe headache - Vision problems, such as temporary blindness - Abdominal pain, especially in the upper right area of the belly - Nausea and vomiting - Smaller urine output or not urinating very often - Seizures - Severe headache - Vision problems, such as temporary blindness - Abdominal pain, especially in the upper right area of the belly - Nausea and vomiting - Smaller urine output or not urinating very often - HELLP Syndrome HELLP syndrome can lead to serious complications, including liver failure and death.1 A pregnant woman with HELLP syndrome might bleed or bruise easily and/or experience abdominal pain, nausea or vomiting, headache, or extreme fatigue. Although most women who develop HELLP syndrome already have high blood pressure and preeclampsia, sometimes the syndrome is the first sign. In addition, HELLP syndrome can occur without a woman having either high blood pressure or protein in her urine. How do health care providers diagnose preeclampsia, eclampsia, and HELLP syndrome? A health care provider will check a pregnant woman’s blood pressure and urine during each prenatal visit. If the blood pressure reading is considered high (140/90 or higher), especially after the 20th week of pregnancy, the health care provider will likely perform blood tests and more extensive lab tests to look for extra protein in the urine (called proteinuria) as well as other symptoms.The American College of Obstetricians and Gynecologists provides the following criteria for a diagnosis of gestational hypertension, preeclampsia, eclampsia, and HELLP syndrome.Gestational hypertension is diagnosed if a pregnant woman has high blood pressure but no protein in the urine. Gestational hypertension occurs when women whose blood pressure levels were normal before pregnancy develop high blood pressure after 20 weeks of pregnancy. Gestational hypertension can progress into preeclampsia.1Mild preeclampsia is diagnosed when a pregnant woman has:2- Systolic blood pressure (top number) of 140 mmHg or higher or diastolic blood pressure (bottom number) of 90 mmHg or higher and either - Urine with 0.3 or more grams of protein in a 24-hour specimen (a collection of every drop of urine within 24 hours) or a protein-to-creatinine ratio greater than 0.3 or - Blood tests that show kidney or liver dysfunction - Fluid in the lungs and difficulty breathing - Visual impairmentsSevere preeclampsia occurs when a pregnant woman has any of the following:- Systolic blood pressure of 160 mmHg or higher or diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while the patient is on bed rest - Urine with 5 or more grams of protein in a 24-hour specimen or 3 or more grams of protein on 2 random urine samples collected at least 4 hours apart - Test results suggesting kidney or liver damage—for example, blood tests that reveal low numbers of platelets or high liver enzymes - Severe, unexplained stomach pain that does not respond to medication - Symptoms that include visual disturbances, difficulty breathing, or fluid buildup3Eclampsia occurs when women with preeclampsia develop seizures. The seizures can happen before or during labor or after the baby is delivered. HELLP syndrome is diagnosed when laboratory tests show hemolysis (burst red blood cells release hemoglobin into the blood plasma), elevated liver enzymes, and low platelets. There also may or may not be extra protein in the urine.4Some women may also be diagnosed with superimposed preeclampsia—a situation in which the woman develops preeclampsia on top of high blood pressure that was present before she got pregnant. Health care providers look for an increase in blood pressure and either protein in the urine, fluid buildup, or both for a diagnosis of superimposed preeclampsia.In addition to tests that might diagnose preeclampsia or similar problems, health care providers may do other tests to assess the health of the mother and fetus, including:- Blood tests to see how well the mother's liver and kidneys are working - Blood tests to check blood platelet levels to see how well the mother’s blood is clotting - Blood tests to count the total number of red blood cells in the mother’s blood - A maternal weight check - An ultrasound to assess the fetus’s size - A check of the fetus's heart rate - A physical exam to look for swelling in the mother’s face, hands, or legs as well as abdominal tenderness or an enlarged liver What are the treatments for preeclampsia, eclampsia, & HELLP syndrome? - Preeclampsia Treatment If the pregnancy is at 37 weeks or later, the health care provider will usually want to deliver the fetus to treat preeclampsia and avoid further complications. If the pregnancy is at less than 37 weeks, however, the woman and her health care provider may consider treatment options that give the fetus more time to develop, depending on how severe the condition is. A health care provider may consider the following options: - If the preeclampsia is mild, it may be possible to wait to deliver. To help prevent further complications, the health care provider may ask the woman to go on bed rest to try to lower blood pressure and increase the blood flow to the placenta. - Close monitoring of the woman and her fetus will be needed. Tests for the mother might include blood and urine tests to see if the preeclampsia is progressing, such as tests to assess platelet counts, liver enzymes, kidney function, and urinary protein levels. Tests for the fetus might include ultrasound, heart rate monitoring, assessment of fetal growth, and amniotic fluid assessment. - Anticonvulsive medication, such as magnesium sulfate, might be used to prevent a seizure. - In some cases, such as with severe preeclampsia, the woman will be admitted to the hospital so she can be monitored closely and continuously. Treatment in the hospital might include intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs. When a woman has severe preeclampsia and is at 34 weeks of pregnancy or later, the American College of Obstetricians and Gynecologists recommends delivery as soon as medically possible. If the pregnancy is at less than 34 weeks, health care providers will probably prescribe corticosteroids to help speed up the maturation of the fetal lungs before attempting delivery.2 Preterm delivery may be necessary, even if that means likely complications for the infant, because of the risk of severe maternal complications. The symptoms of preeclampsia usually go away within 6 weeks of delivery.3 - If the preeclampsia is mild, it may be possible to wait to deliver. To help prevent further complications, the health care provider may ask the woman to go on bed rest to try to lower blood pressure and increase the blood flow to the placenta. - Close monitoring of the woman and her fetus will be needed. Tests for the mother might include blood and urine tests to see if the preeclampsia is progressing, such as tests to assess platelet counts, liver enzymes, kidney function, and urinary protein levels. Tests for the fetus might include ultrasound, heart rate monitoring, assessment of fetal growth, and amniotic fluid assessment. - Anticonvulsive medication, such as magnesium sulfate, might be used to prevent a seizure. - In some cases, such as with severe preeclampsia, the woman will be admitted to the hospital so she can be monitored closely and continuously. Treatment in the hospital might include intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs. - Eclampsia Treatment Eclampsia—the onset of seizures in a woman with preeclampsia—is considered a medical emergency. Immediate treatment, usually in a hospital, is needed to stop the mother's seizures, treat blood pressure levels that are too high, and deliver the fetus. Magnesium sulfate (a type of mineral) may be given to treat active seizures and prevent future seizures. Antihypertensive medications may be given to lower the blood pressure. - HELLP Syndrome Treatment HELLP syndrome, a severe complication of preeclampsia and eclampsia, can lead to serious complications for the mother, including liver failure and death, as well as the fetus. The health care provider may consider the following treatments after a diagnosis of HELLP syndrome: - Delivery of the fetus - Hospitalization to provide intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs.4 - Delivery of the fetus - Hospitalization to provide intravenous medication to control blood pressure and prevent seizures or other complications as well as steroid injections to help speed up the development of the fetus's lungs.4 Other FAQs - If I have high blood pressure, can I take steps to prevent problems like preeclampsia during pregnancy? If you currently have chronic hypertension (high blood pressure not due to pregnancy), you may be at higher-than-average risk for getting preeclampsia during pregnancy. Your risk is also higher if you had gestational hypertension (high blood pressure that occurs only during pregnancy) or preeclampsia with a previous pregnancy, if you are obese, or if you have other risk factors.1 Talk with your health care provider about how hypertension might affect your pregnancy and what you can do to lower your risk. Before You Get Pregnant - Visit your health care provider for a preconception visit to discuss what you can do to lower your risk. Your health care provider may recommend ways to control your blood pressure, if needed, by limiting your salt intake, exercising regularly, and losing weight if you are overweight. - If you take medication to control your blood pressure, ask your health care provider if you should change it. Some medications should not be used during pregnancy. Your health care provider may be able to recommend safer alternatives. While You Are Pregnant - Get regular prenatal care, including regular blood pressure checks, urine tests for protein, as well as regular weight checks. - Avoid alcohol and tobacco. - Talk with your health care provider about any drugs or supplements that you take or are thinking of taking, including vitamins and herbs. Follow your provider's recommendations about prescription and other medications. - If you are at very high risk of preeclampsia, your doctor may recommend that you start taking low-dose aspirin after at least 12 weeks of pregnancy.2 [top] - Visit your health care provider for a preconception visit to discuss what you can do to lower your risk. Your health care provider may recommend ways to control your blood pressure, if needed, by limiting your salt intake, exercising regularly, and losing weight if you are overweight. - If you take medication to control your blood pressure, ask your health care provider if you should change it. Some medications should not be used during pregnancy. Your health care provider may be able to recommend safer alternatives. - Get regular prenatal care, including regular blood pressure checks, urine tests for protein, as well as regular weight checks. - Avoid alcohol and tobacco. - Talk with your health care provider about any drugs or supplements that you take or are thinking of taking, including vitamins and herbs. Follow your provider's recommendations about prescription and other medications. - If you are at very high risk of preeclampsia, your doctor may recommend that you start taking low-dose aspirin after at least 12 weeks of pregnancy.2 - If I had preeclampsia with a previous pregnancy, will I have it again in later pregnancies? If you had preeclampsia during your first pregnancy, your risk of developing preeclampsia again is about 15%.3 Your risk is even higher if you delivered your first child before 28 weeks of pregnancy or if you are overweight or obese.3 Your risk of having preeclampsia again is also higher if you developed preeclampsia early in your previous pregnancy, if you developed chronic hypertension or diabetes after the first pregnancy, if you had in vitro fertilization, or if you are carrying more than one fetus. Having severe preeclampsia or HELLP syndrome during the first pregnancy also raises your risk. If you had HELLP syndrome during a pregnancy, you have about a 20% chance of getting some form of gestational hypertension again.4 [top] prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | {
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There is no known way to prevent preeclampsia. It is important for all pregnant women to start prenatal care early and continue it through the pregnancy. | Preeclampsia Toxemia Pregnancy-induced hypertension (PIH) Gestational hypertension High blood pressure - preeclampsia Summary Preeclampsia is high blood pressure and signs of liver or kidney damage that occur in women after the 20th week of pregnancy. While rare, preeclampsia also may occur in a woman after delivering her baby, most often within 48 hours. This is called postpartum preeclampsia. Watch this video about: Preeclampsia </div> </div> Causes The exact cause of preeclampsia is unknown. It occurs in about 3% to 7% of all pregnancies. The condition is thought to start in the placenta. Factors that may lead to preeclampsia developing include: Autoimmune disorders Blood vessel problems Your diet Your genes Risk factors for the condition include: First pregnancy Past history of preeclampsia Multiple pregnancy (twins or more) Family history of preeclampsia Obesity Being older than age 35 Being African-American History of diabetes, high blood pressure, or kidney disease Symptoms Often, women who have preeclampsia do not feel sick. Symptoms of preeclampsia can include: Swelling of the hands and face or eyes (edema) Sudden weight gain over 1 to 2 days or more than 2 pounds (0.9 kg) a week Note: Some swelling of the feet and ankles is considered normal during pregnancy. Symptoms of severe preeclampsia include: Headache that does not go away or becomes worse. Trouble breathing. Belly pain on the right side, below the ribs. Pain may also be felt in the right shoulder, and can be confused with heartburn, gallbladder pain, a stomach virus, or kicking by the baby. Not urinating very often. Nausea and vomiting (a worrisome sign). Vision changes, including temporary blindness, seeing flashing lights or spots, sensitivity to light, and blurry vision. Feel lightheaded or faint. Exams and Tests The health care provider will do a physical exam. This may show: High blood pressure, often higher than 140/90 mm Hg Swelling in the hands and face Weight gain Blood and urine tests will be done. This may show: Protein in the urine (proteinuria) Higher-than-normal liver enzymes Platelet count that is low Higher-than-normal creatinine levels in your blood Tests will also be done to: See how well your blood clots Monitor the baby's health The results of a pregnancy ultrasound, non-stress test, and other tests will help your provider decide whether your baby needs to be delivered right away. Women who had low blood pressure at the start of their pregnancy, followed by a significant rise in blood pressure need to be watched closely for other signs of preeclampsia. Treatment Preeclampsia often resolves after the baby is born and the placenta is delivered. However, it may persist or even begin after delivery. Most often, at 37 weeks, your baby is developed enough to be healthy outside of the womb. As a result, your provider will likely want your baby to be delivered so the preeclampsia does not get worse. You may get medicines to help trigger labor, or you may need a C-section. If your baby is not fully developed and you have mild preeclampsia, the disease can often be managed at home until your baby has matured. The provider will recommend: Frequent doctor visits to make sure you and your baby are doing well. Medicines to lower your blood pressure (sometimes). The severity of preeclampsia may change quickly, so you'll need very careful follow-up. Complete bed rest is no longer recommended. Sometimes, a pregnant woman with preeclampsia is admitted to the hospital. This allows the health care team to watch the baby and mother more closely. Treatment in the hospital may include: Close monitoring of the mother and baby Medicines to control blood pressure and prevent seizures and other complications Steroid injections for pregnancies under 34 weeks gestation to help speed up the development of the baby's lungs You and your provider will continue to discuss the safest time to deliver your baby, considering: How close you are to your due date. The severity of the preeclampsia. Preeclampsia has many severe complications that can harm the mother. How well the baby is doing in the womb. The baby must be delivered if there are signs of severe preeclampsia. These include: Tests that show your baby is not growing well or is not getting enough blood and oxygen. The bottom number of your blood pressure is over 110 mm Hg or is greater than 100 mm Hg consistently over a 24-hour period. Abnormal liver function test results. Severe headaches. Pain in the belly area (abdomen). Seizures or changes in mental function (eclampsia). Fluid buildup in the mother's lungs. HELLP syndrome (rare). Low platelet count or bleeding. Low urine output, a lot of protein in the urine, and other signs that your kidneys are not working properly. Outlook (Prognosis) Sign and symptoms of preeclampsia most often go away within 6 weeks after delivery. However, the high blood pressure sometimes gets worse the first few days after delivery. You are still at risk for preeclampsia for up to 6 weeks after delivery. This postpartum preeclampsia carries a higher risk of death. If you notice any symptoms of preeclampsia, contact your health care provider right away. If you have had preeclampsia, you are more likely to develop it again during another pregnancy. In most cases, it is not as severe as the first time. If you have high blood pressure during more than one pregnancy, you are more likely to have high blood pressure when you get older. Possible Complications Rare but severe immediate complications for the mother can include: Bleeding problems Seizure (eclampsia) Fetal growth retardation Premature separation of the placenta from the uterus before the baby is born Rupture of the liver Stroke Death (rarely) Having a history of preeclampsia makes a woman a higher risk for future problems such as: Heart disease Diabetes Kidney disease When to Contact a Medical Professional Call your provider if you have symptoms of preeclampsia during your pregnancy or after delivery. Prevention There is no sure way to prevent preeclampsia. If your doctor thinks you are at high risk of developing preeclampsia, they may suggest that you start baby aspirin (81 mg) daily late in the first trimester or early in the second trimester of your pregnancy. However, DO NOT start baby aspirin unless you have consulted with your doctor first. If your doctor thinks your calcium intake is low, they may suggest that you take a calcium supplement daily. There are no other specific preventive measures for preeclampsia. It is important for all pregnant women to start prenatal care early and continue it through the pregnancy and after delivery. Review Date 4/19/2018 Updated by: John D. Jacobson, MD, Professor of Obstetrics and Gynecology, Loma Linda University School of Medicine, Loma Linda Center for Fertility, Loma Linda, CA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Editorial update 08/20/2018. prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | prevention of preeclampsia I know that the jury is out on the exact causes of preeclampsia, but I am looking for some of the ways that the chances of acquiring it can be minimized. | {
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Your doctor determines your leukemia treatment options based on your age and overall health, the type of leukemia you have, and whether it has spread to other parts of your body, including the central nervous system. Common treatments used to fight leukemia include: - Chemotherapy. ... Biological therapy. Biological therapy works by using treatments that help your immune system recognize and attack leukemia cells. - Targeted therapy. Targeted therapy uses drugs that attack specific vulnerabilities within your cancer cells. For example, the drug imatinib (Gleevec) stops the action of a protein within the leukemia cells of people with chronic myelogenous leukemia. Radiation therapy. | Leukemia Overview Leukemia is cancer of the body's blood-forming tissues, including the bone marrow and the lymphatic system. Many types of leukemia exist. Some forms of leukemia are more common in children. Other forms of leukemia occur mostly in adults. Leukemia usually involves the white blood cells. Your white blood cells are potent infection fighters - they normally grow and divide in an orderly way, as your body needs them. But in people with leukemia, the bone marrow produces abnormal white blood cells, which don't function properly. Treatment for leukemia can be complex - depending on the type of leukemia and other factors. But there are strategies and resources that can help to make your treatment successful. Leukemia care at Mayo Clinic Symptoms Leukemia symptoms vary, depending on the type of leukemia. Common leukemia signs and symptoms include: - Fever or chills - Persistent fatigue, weakness - Frequent or severe infections - Losing weight without trying - Swollen lymph nodes, enlarged liver or spleen - Easy bleeding or bruising - Recurrent nosebleeds - Tiny red spots in your skin (petechiae) - Excessive sweating, especially at night - Bone pain or tenderness When to see a doctor Make an appointment with your doctor if you have any persistent signs or symptoms that worry you. Leukemia symptoms are often vague and not specific. You may overlook early leukemia symptoms because they may resemble symptoms of the flu and other common illnesses. Rarely, leukemia may be discovered during blood tests for some other condition. Causes Scientists don't understand the exact causes of leukemia. It seems to develop from a combination of genetic and environmental factors. How leukemia forms In general, leukemia is thought to occur when some blood cells acquire mutations in their DNA - the instructions inside each cell that guide its action. There may be other changes in the cells that have yet to be fully understood that could contribute to leukemia. Certain abnormalities cause the cell to grow and divide more rapidly and to continue living when normal cells would die. Over time, these abnormal cells can crowd out healthy blood cells in the bone marrow, leading to fewer healthy white blood cells, red blood cells and platelets, causing the signs and symptoms of leukemia. How leukemia is classified Doctors classify leukemia based on its speed of progression and the type of cells involved. The first type of classification is by how fast the leukemia progresses: - Acute leukemia. In acute leukemia, the abnormal blood cells are immature blood cells (blasts). They can't carry out their normal functions, and they multiply rapidly, so the disease worsens quickly. Acute leukemia requires aggressive, timely treatment. - Chronic leukemia. There are many types of chronic leukemias. Some produce too many cells and some cause too few cells to be produced. Chronic leukemia involves more mature blood cells. These blood cells replicate or accumulate more slowly and can function normally for a period of time. Some forms of chronic leukemia initially produce no early symptoms and can go unnoticed or undiagnosed for years. The second type of classification is by type of white blood cell affected: - Lymphocytic leukemia. This type of leukemia affects the lymphoid cells (lymphocytes), which form lymphoid or lymphatic tissue. Lymphatic tissue makes up your immune system. - Myelogenous (my-uh-LOHJ-uh-nus) leukemia. This type of leukemia affects the myeloid cells. Myeloid cells give rise to red blood cells, white blood cells and platelet-producing cells. Types of leukemia The major types of leukemia are: - Acute lymphocytic leukemia (ALL). This is the most common type of leukemia in young children. ALL can also occur in adults. - Acute myelogenous leukemia (AML). AML is a common type of leukemia. It occurs in children and adults. AML is the most common type of acute leukemia in adults. - Chronic lymphocytic leukemia (CLL). With CLL, the most common chronic adult leukemia, you may feel well for years without needing treatment. - Chronic myelogenous leukemia (CML). This type of leukemia mainly affects adults. A person with CML may have few or no symptoms for months or years before entering a phase in which the leukemia cells grow more quickly. - Other types. Other, rarer types of leukemia exist, including hairy cell leukemia, myelodysplastic syndromes and myeloproliferative disorders. Diagnosis Doctors may find chronic leukemia in a routine blood test, before symptoms begin. If this happens, or if you have signs or symptoms that suggest leukemia, you may undergo the following diagnostic exams: - Physical exam. Your doctor will look for physical signs of leukemia, such as pale skin from anemia, swelling of your lymph nodes, and enlargement of your liver and spleen. - Blood tests. By looking at a sample of your blood, your doctor can determine if you have abnormal levels of red or white blood cells or platelets - which may suggest leukemia. - Bone marrow test. Your doctor may recommend a procedure to remove a sample of bone marrow from your hipbone. The bone marrow is removed using a long, thin needle. The sample is sent to a laboratory to look for leukemia cells. Specialized tests of your leukemia cells may reveal certain characteristics that are used to determine your treatment options. Treatment Treatment for your leukemia depends on many factors. Your doctor determines your leukemia treatment options based on your age and overall health, the type of leukemia you have, and whether it has spread to other parts of your body, including the central nervous system. Common treatments used to fight leukemia include: - Chemotherapy. Chemotherapy is the major form of treatment for leukemia. This drug treatment uses chemicals to kill leukemia cells. Depending on the type of leukemia you have, you may receive a single drug or a combination of drugs. These drugs may come in a pill form, or they may be injected directly into a vein. - Biological therapy. Biological therapy works by using treatments that help your immune system recognize and attack leukemia cells. - Targeted therapy. Targeted therapy uses drugs that attack specific vulnerabilities within your cancer cells. For example, the drug imatinib (Gleevec) stops the action of a protein within the leukemia cells of people with chronic myelogenous leukemia. This can help control the disease. - Radiation therapy. Radiation therapy uses X-rays or other high-energy beams to damage leukemia cells and stop their growth. During radiation therapy, you lie on a table while a large machine moves around you, directing the radiation to precise points on your body. You may receive radiation in one specific area of your body where there is a collection of leukemia cells, or you may receive radiation over your whole body. Radiation therapy may be used to prepare for a stem cell transplant. - Stem cell transplant. A stem cell transplant is a procedure to replace your diseased bone marrow with healthy bone marrow. Before a stem cell transplant, you receive high doses of chemotherapy or radiation therapy to destroy your diseased bone marrow. Then you receive an infusion of blood-forming stem cells that help to rebuild your bone marrow. You may receive stem cells from a donor, or in some cases you may be able to use your own stem cells. A stem cell transplant is very similar to a bone marrow transplant. Project. Hi my name is and I'm doing a school project about leukemia and I was wondering if you can anwser some of my questions please.1. What cause leukemia cancer?2. Can you survive leukemia?3. How does leukemia affect your body?4. Is leukemia inherited?5. What is advanced leukemia?6. How long can someone with leukemia expect to live?7. Can you tell if you have leukemia?8. What treatments do you need to take?9. What are the signs of leukemia?10. What is the difference between AML and CML ? | Project. Hi my name is and I'm doing a school project about leukemia and I was wondering if you can anwser some of my questions please.1. What cause leukemia cancer?2. Can you survive leukemia?3. How does leukemia affect your body?4. Is leukemia inherited?5. What is advanced leukemia?6. How long can someone with leukemia expect to live?7. Can you tell if you have leukemia?8. What treatments do you need to take?9. What are the signs of leukemia?10. What is the difference between AML and CML ? | {
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Three treatment options are available: - Skin lotions, ointments, creams, and shampoos. These are called topical treatments. - Pills or injections that affect the body's immune response, not just the skin. These are called systemic, or body-wide, treatments. - Phototherapy, which uses ultraviolet light to treat psoriasis. ...Most of the time, psoriasis is treated with medicines that are placed directly on the skin or scalp. These may include: - Cortisone creams and ointments - Creams or ointments that contain coal tar or anthralin - Creams to remove the scaling (usually salicylic acid or lactic acid) - Dandruff shampoos (over-the-counter or prescription) - Moisturizers - Prescription medicines containing vitamin D or vitamin A (retinoids) ... If you have very severe psoriasis, your provider will likely recommend medicines that suppress the immune system's faulty response. These medicines include methotrexate or cyclosporine. Retinoids can also be used. Newer drugs called biologics are used when other treatments do not work. Biologics approved for the treatment of psoriasis include: - Adalimumab (Humira) - Etanercept (Enbrel) - Infliximab (Remicade) - Ustekinumab (Stelara) - Secukinumab (Cosentyx) - Apremilast (Otezla) - Ixekizumab (Taltz) ... Following these tips at home may help: - Taking a daily bath or shower. Try not to scrub too hard because this can irritate the skin and trigger an attack. - Oatmeal baths may be soothing and may help to loosen scales. Keeping your skin clean and moist, and avoiding your specific psoriasis triggers may help reduce the number of flare-ups. - Sunlight may help your symptoms go away. Be careful not to get sunburned. - Relaxation and anti-stress techniques. The link between stress and flares of psoriasis is not well understood. - Limiting the alcoholic beverages you drink may help keep psoriasis from getting worse. | Psoriasis Plaque psoriasis Psoriasis vulgaris Guttate psoriasis Pustular psoriasis Summary Psoriasis is a skin condition that causes skin redness and irritation. Most people with psoriasis have thick, red, well-defined patches of skin with flaky, silver-white scales. These patches are called plaques. Causes Psoriasis is very common. Anyone can develop it, but it most often begins between ages 15 and 35, or as people get older. Psoriasis isn't contagious. This means it doesn't spread to other people. Psoriasis seems to be passed down through families. Normal skin cells grow deep in the skin and rise to the surface about once a month. When you have psoriasis, this process takes place in days rather than in 3 to 4 weeks. This results in dead skin cells building up on the skin's surface, forming the collections of scales. The following may trigger an attack of psoriasis or make it harder to treat: Infections from bacteria or viruses, including strep throat and upper respiratory infections Dry air or dry skin Injury to the skin, including cuts, burns, insect bites, and other skin rashes Some medicines, including antimalaria drugs, beta-blockers, and lithium Stress Too little sunlight Too much sunlight (sunburn) Psoriasis may be worse in people who have a weak immune system, including people with HIV/AIDS. Some people with psoriasis also have arthritis (psoriatic arthritis). In addition, people with psoriasis have an increased risk of fatty liver disease and cardiovascular disorders, such as heart disease and stroke. Symptoms Psoriasis can appear suddenly or slowly. Many times, it goes away and then comes back. The main symptom of the condition is irritated, red, flaky plaques of skin. Plaques are most often seen on the elbows, knees, and middle of the body. But they can appear anywhere, including on the scalp, palms, soles of the feet, and genitalia. The skin may be: Itchy Dry and covered with silver, flaky skin (scales) Pink-red in color Raised and thick Other symptoms may include: Joint or tendon pain or aching Nail changes, including thick nails, yellow-brown nails, dents in the nail, and a lifting of the nail from the skin underneath Severe dandruff on the scalp There are five main types of psoriasis: Erythrodermic -- The skin redness is very intense and covers a large area. Guttate -- Small, pink-red spots appear on the skin. This form is often linked to strep infections, especially in children. Inverse -- Skin redness and irritation occur in the armpits, groin, and in between overlapping skin rather than the more common areas of the elbows and knees. Plaque -- Thick, red patches of skin are covered by flaky, silver-white scales. This is the most common type of psoriasis. Pustular -- Yellow pus-filled blisters (pustules) are surrounded by red, irritated skin. Exams and Tests Your health care provider can usually diagnose this condition by looking at your skin. Sometimes, a skin biopsy is done to rule out other possible conditions. If you have joint pain, your provider may order imaging studies. Treatment The goal of treatment is to control your symptoms and prevent infection. Three treatment options are available: Skin lotions, ointments, creams, and shampoos -- These are called topical treatments. Pills or injections that affect the body's immune response, not just the skin -- These are called systemic, or body-wide, treatments. Phototherapy, which uses ultraviolet light to treat psoriasis. TREATMENTS USED ON THE SKIN (TOPICAL) Most of the time, psoriasis is treated with medicines that are placed directly on the skin or scalp. These may include: Cortisone creams and ointments Other anti-inflammatory creams and ointments Creams or ointments that contain coal tar or anthralin Creams to remove the scaling (usually salicylic acid or lactic acid) Dandruff shampoos (over-the-counter or prescription) Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) SYSTEMIC (BODY-WIDE) TREATMENTS If you have very severe psoriasis, your provider will likely recommend medicines that suppress the immune system's faulty response. These medicines include methotrexate or cyclosporine. Retinoids, such as acetretin, can also be used. Newer drugs, called biologics, are used when other treatments do not work. Biologics approved for the treatment of psoriasis include: Adalimumab (Humira) Abatacept (Orencia) Apremilast (Otezla) Brodalumab (Siliq) Certolizumab pegol (Cimzia) Etanercept (Enbrel) Infliximab (Remicade) Ixekizumab (Taltz) Golimumab (Simponi) Guselkumab (Tremfya) Ustekinumab (Stelara) Secukinumab (Cosentyx) PHOTOTHERAPY Some people may choose to have phototherapy, which is safe and can be very effective: This is treatment in which your skin is carefully exposed to ultraviolet light. It may be given alone or after you take a drug that makes the skin sensitive to light. Phototherapy for psoriasis can be given as ultraviolet A (UVA) or ultraviolet B (UVB) light. OTHER TREATMENTS If you have an infection, your provider will prescribe antibiotics. HOME CARE Following these tips at home may help: Taking a daily bath or shower -- Try not to scrub too hard, because this can irritate the skin and trigger an attack. Oatmeal baths may be soothing and may help to loosen scales. You can use over-the-counter oatmeal bath products. Or, you can mix 1 cup (240 mL) of oatmeal into a tub (bath) of warm water. Keeping your skin clean and moist, and avoiding your specific psoriasis triggers may help reduce the number of flare-ups. Sunlight may help your symptoms go away. Be careful not to get sunburned. Relaxation and anti-stress techniques -- The link between stress and flares of psoriasis is not well understood. Support Groups Some people may benefit from a psoriasis support group. The National Psoriasis Foundation is a good resource: www.psoriasis.org. Outlook (Prognosis) Psoriasis can be a lifelong condition that can be usually controlled with treatment. It may go away for a long time and then return. With proper treatment, it will not affect your overall health. But be aware that there is a strong link between psoriasis and other health problems, such as heart disease. When to Contact a Medical Professional Call your provider if you have symptoms of psoriasis or if your skin irritation continues despite treatment. Tell your provider if you have joint pain or fever with your psoriasis attacks. If you have symptoms of arthritis, talk to your dermatologist or rheumatologist. Go to the emergency room or call the local emergency number (such as 911) if you have a severe outbreak that covers all or most of your body. Prevention There is no known way to prevent psoriasis. Keeping the skin clean and moist and avoiding your psoriasis triggers may help reduce the number of flare-ups. Providers recommend daily baths or showers for people with psoriasis. Avoid scrubbing too hard, because this can irritate the skin and trigger an attack. Review Date 2/27/2018 Updated by: David L. Swanson, MD, Vice Chair of Medical Dermatology, Associate Professor of Dermatology, Mayo Medical School, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | {
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Three treatment options are available: - Skin lotions, ointments, creams, and shampoos. These are called topical treatments. - Pills or injections that affect the body's immune response, not just the skin. These are called systemic, or body-wide, treatments. - Phototherapy, which uses ultraviolet light to treat psoriasis. ...Most of the time, psoriasis is treated with medicines that are placed directly on the skin or scalp. These may include: - Cortisone creams and ointments - Creams or ointments that contain coal tar or anthralin - Creams to remove the scaling (usually salicylic acid or lactic acid) - Dandruff shampoos (over-the-counter or prescription) - Moisturizers - Prescription medicines containing vitamin D or vitamin A (retinoids) ... If you have very severe psoriasis, your provider will likely recommend medicines that suppress the immune system's faulty response. These medicines include methotrexate or cyclosporine. Retinoids can also be used. Newer drugs called biologics are used when other treatments do not work. Biologics approved for the treatment of psoriasis include: - Adalimumab (Humira) - Etanercept (Enbrel) - Infliximab (Remicade) - Ustekinumab (Stelara) - Secukinumab (Cosentyx) - Apremilast (Otezla) - Ixekizumab (Taltz) ... Following these tips at home may help: - Taking a daily bath or shower. Try not to scrub too hard because this can irritate the skin and trigger an attack. - Oatmeal baths may be soothing and may help to loosen scales. Keeping your skin clean and moist, and avoiding your specific psoriasis triggers may help reduce the number of flare-ups. - Sunlight may help your symptoms go away. Be careful not to get sunburned. - Relaxation and anti-stress techniques. The link between stress and flares of psoriasis is not well understood. - Limiting the alcoholic beverages you drink may help keep psoriasis from getting worse. | Psoriasis Plaque psoriasis Psoriasis vulgaris Guttate psoriasis Pustular psoriasis Summary Psoriasis is a skin condition that causes skin redness and irritation. Most people with psoriasis have thick, red, well-defined patches of skin with flaky, silver-white scales. These patches are called plaques. Causes Psoriasis is very common. Anyone can develop it, but it most often begins between ages 15 and 35, or as people get older. Psoriasis isn't contagious. This means it doesn't spread to other people. Psoriasis seems to be passed down through families. Normal skin cells grow deep in the skin and rise to the surface about once a month. When you have psoriasis, this process takes place in days rather than in 3 to 4 weeks. This results in dead skin cells building up on the skin's surface, forming the collections of scales. The following may trigger an attack of psoriasis or make it harder to treat: Infections from bacteria or viruses, including strep throat and upper respiratory infections Dry air or dry skin Injury to the skin, including cuts, burns, insect bites, and other skin rashes Some medicines, including antimalaria drugs, beta-blockers, and lithium Stress Too little sunlight Too much sunlight (sunburn) Psoriasis may be worse in people who have a weak immune system, including people with HIV/AIDS. Some people with psoriasis also have arthritis (psoriatic arthritis). In addition, people with psoriasis have an increased risk of fatty liver disease and cardiovascular disorders, such as heart disease and stroke. Symptoms Psoriasis can appear suddenly or slowly. Many times, it goes away and then comes back. The main symptom of the condition is irritated, red, flaky plaques of skin. Plaques are most often seen on the elbows, knees, and middle of the body. But they can appear anywhere, including on the scalp, palms, soles of the feet, and genitalia. The skin may be: Itchy Dry and covered with silver, flaky skin (scales) Pink-red in color Raised and thick Other symptoms may include: Joint or tendon pain or aching Nail changes, including thick nails, yellow-brown nails, dents in the nail, and a lifting of the nail from the skin underneath Severe dandruff on the scalp There are five main types of psoriasis: Erythrodermic -- The skin redness is very intense and covers a large area. Guttate -- Small, pink-red spots appear on the skin. This form is often linked to strep infections, especially in children. Inverse -- Skin redness and irritation occur in the armpits, groin, and in between overlapping skin rather than the more common areas of the elbows and knees. Plaque -- Thick, red patches of skin are covered by flaky, silver-white scales. This is the most common type of psoriasis. Pustular -- Yellow pus-filled blisters (pustules) are surrounded by red, irritated skin. Exams and Tests Your health care provider can usually diagnose this condition by looking at your skin. Sometimes, a skin biopsy is done to rule out other possible conditions. If you have joint pain, your provider may order imaging studies. Treatment The goal of treatment is to control your symptoms and prevent infection. Three treatment options are available: Skin lotions, ointments, creams, and shampoos -- These are called topical treatments. Pills or injections that affect the body's immune response, not just the skin -- These are called systemic, or body-wide, treatments. Phototherapy, which uses ultraviolet light to treat psoriasis. TREATMENTS USED ON THE SKIN (TOPICAL) Most of the time, psoriasis is treated with medicines that are placed directly on the skin or scalp. These may include: Cortisone creams and ointments Other anti-inflammatory creams and ointments Creams or ointments that contain coal tar or anthralin Creams to remove the scaling (usually salicylic acid or lactic acid) Dandruff shampoos (over-the-counter or prescription) Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) SYSTEMIC (BODY-WIDE) TREATMENTS If you have very severe psoriasis, your provider will likely recommend medicines that suppress the immune system's faulty response. These medicines include methotrexate or cyclosporine. Retinoids, such as acetretin, can also be used. Newer drugs, called biologics, are used when other treatments do not work. Biologics approved for the treatment of psoriasis include: Adalimumab (Humira) Abatacept (Orencia) Apremilast (Otezla) Brodalumab (Siliq) Certolizumab pegol (Cimzia) Etanercept (Enbrel) Infliximab (Remicade) Ixekizumab (Taltz) Golimumab (Simponi) Guselkumab (Tremfya) Ustekinumab (Stelara) Secukinumab (Cosentyx) PHOTOTHERAPY Some people may choose to have phototherapy, which is safe and can be very effective: This is treatment in which your skin is carefully exposed to ultraviolet light. It may be given alone or after you take a drug that makes the skin sensitive to light. Phototherapy for psoriasis can be given as ultraviolet A (UVA) or ultraviolet B (UVB) light. OTHER TREATMENTS If you have an infection, your provider will prescribe antibiotics. HOME CARE Following these tips at home may help: Taking a daily bath or shower -- Try not to scrub too hard, because this can irritate the skin and trigger an attack. Oatmeal baths may be soothing and may help to loosen scales. You can use over-the-counter oatmeal bath products. Or, you can mix 1 cup (240 mL) of oatmeal into a tub (bath) of warm water. Keeping your skin clean and moist, and avoiding your specific psoriasis triggers may help reduce the number of flare-ups. Sunlight may help your symptoms go away. Be careful not to get sunburned. Relaxation and anti-stress techniques -- The link between stress and flares of psoriasis is not well understood. Support Groups Some people may benefit from a psoriasis support group. The National Psoriasis Foundation is a good resource: www.psoriasis.org. Outlook (Prognosis) Psoriasis can be a lifelong condition that can be usually controlled with treatment. It may go away for a long time and then return. With proper treatment, it will not affect your overall health. But be aware that there is a strong link between psoriasis and other health problems, such as heart disease. When to Contact a Medical Professional Call your provider if you have symptoms of psoriasis or if your skin irritation continues despite treatment. Tell your provider if you have joint pain or fever with your psoriasis attacks. If you have symptoms of arthritis, talk to your dermatologist or rheumatologist. Go to the emergency room or call the local emergency number (such as 911) if you have a severe outbreak that covers all or most of your body. Prevention There is no known way to prevent psoriasis. Keeping the skin clean and moist and avoiding your psoriasis triggers may help reduce the number of flare-ups. Providers recommend daily baths or showers for people with psoriasis. Avoid scrubbing too hard, because this can irritate the skin and trigger an attack. Review Date 2/27/2018 Updated by: David L. Swanson, MD, Vice Chair of Medical Dermatology, Associate Professor of Dermatology, Mayo Medical School, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | {
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Your doctor may recommend creams, ultraviolet light therapy, prescription medications, shots, or some combination of these treatments. - You may have to try a couple of different treatments before finding one that helps you. - Joining a support group helps some people with psoriasis cope with the disease. There are several different types of treatment for psoriasis. Your doctor may recommend that you try one of these or a combination of them: - Topical treatment, which means putting creams on your skin. - Light therapy, which involves a doctor shining an ultraviolet light on your skin or getting more sunlight. It?s important that a doctor controls the amount of light you are getting from this therapy, because too much ultraviolet light may make your psoriasis worse. - Systemic treatment, which can include taking prescription medicines or getting shots of medicine. You can take an active role in treating your psoriasis. Besides going to your doctor regularly, here are some things you can try to help manage your symptoms: - Keeping your skin well moisturized. - Staying healthy overall. - | Psoriasis What is it? Points To Remember About Psoriasis What is psoriasis? Psoriasis is an autoimmune disease that causes red, scaly skin.It is caused by genes, meaning it runs in families, but some outside factors can make it worse or trigger flares.Psoriasis can be hard to diagnose because it can look like other skin diseases.Your doctor may recommend creams, ultraviolet light therapy, prescription medications, shots, or some combination of these treatments.You may have to try a couple of different treatments before finding one that helps you.Joining a support group helps some people with psoriasis cope with the disease.Psoriasis is a skin disease that causes red, scaly skin that may feel painful, swollen or hot.If you have psoriasis, you are more likely to get some other conditions, including: Psoriatic arthritis, a condition that causes joint pain and swelling.Cardiovascular problems, which affect the heart and blood circulation system.Obesity.High blood pressure.Diabetes.Some treatments for psoriasis can have serious side effects, so be sure to talk about them with your doctor and keep all your appointments. Psoriasis is an autoimmune disease that causes red, scaly skin.It is caused by genes, meaning it runs in families, but some outside factors can make it worse or trigger flares.Psoriasis can be hard to diagnose because it can look like other skin diseases.Your doctor may recommend creams, ultraviolet light therapy, prescription medications, shots, or some combination of these treatments.You may have to try a couple of different treatments before finding one that helps you.Joining a support group helps some people with psoriasis cope with the disease. Psoriasis is an autoimmune disease that causes red, scaly skin.It is caused by genes, meaning it runs in families, but some outside factors can make it worse or trigger flares.Psoriasis can be hard to diagnose because it can look like other skin diseases.Your doctor may recommend creams, ultraviolet light therapy, prescription medications, shots, or some combination of these treatments.You may have to try a couple of different treatments before finding one that helps you.Joining a support group helps some people with psoriasis cope with the disease.Psoriasis is a skin disease that causes red, scaly skin that may feel painful, swollen or hot.If you have psoriasis, you are more likely to get some other conditions, including: Psoriatic arthritis, a condition that causes joint pain and swelling.Cardiovascular problems, which affect the heart and blood circulation system.Obesity.High blood pressure.Diabetes.Some treatments for psoriasis can have serious side effects, so be sure to talk about them with your doctor and keep all your appointments. Who gets it? Who gets psoriasis? Anyone can get psoriasis, but it is more common in adults. Certain genes have been linked to psoriasis, so you are more likely to get it if someone else in your family has it.Anyone can get psoriasis, but it is more common in adults. Certain genes have been linked to psoriasis, so you are more likely to get it if someone else in your family has it. What are the types? What are the types of psoriasis? There are several different types of psoriasis. Here are a few examples: Plaque psoriasis, which causes patches of skin that are red at the base and covered by silvery scales.Guttate psoriasis, which causes small, drop-shaped lesions on your trunk, limbs, and scalp. This type of psoriasis is most often triggered by upper respiratory infections, such as strep throat.Pustular psoriasis, which causes pus-filled blisters. Attacks or flares can be caused by medications, infections, stress, or certain chemicals.Inverse psoriasis, which causes smooth, red patches in folds of skin near the genitals, under the breasts or in the armpits. Rubbing and sweating can make this type of psoriasis worse.Erythrodermic psoriasis, which causes red and scaly skin over much of your body. This can be a reaction to a bad sunburn or taking certain medications, such as corticosteroids. It can also happen if you have a different type of psoriasis that is not well controlled. This type of psoriasis can be very serious, so if you have it, you should see a doctor immediately.There are several different types of psoriasis. Here are a few examples: Plaque psoriasis, which causes patches of skin that are red at the base and covered by silvery scales.Guttate psoriasis, which causes small, drop-shaped lesions on your trunk, limbs, and scalp. This type of psoriasis is most often triggered by upper respiratory infections, such as strep throat.Pustular psoriasis, which causes pus-filled blisters. Attacks or flares can be caused by medications, infections, stress, or certain chemicals.Inverse psoriasis, which causes smooth, red patches in folds of skin near the genitals, under the breasts or in the armpits. Rubbing and sweating can make this type of psoriasis worse.Erythrodermic psoriasis, which causes red and scaly skin over much of your body. This can be a reaction to a bad sunburn or taking certain medications, such as corticosteroids. It can also happen if you have a different type of psoriasis that is not well controlled. This type of psoriasis can be very serious, so if you have it, you should see a doctor immediately. What causes it? What causes psoriasis? Psoriasis is an autoimmune disease, which means that your body's immune system - which protects you from diseases - starts overacting and causing problems. If you have psoriasis, a type of white blood cells called the T cells become so active that they trigger other immune system responses, including swelling and fast turnover of skin cells.Your skin cells grow deep in the skin and rise slowly to the surface. This is called cell turnover, and it usually takes about a month. If you have psoriasis, though, cell turnover can take only a few days. Your skin cells rise too fast and pile up on the surface, causing your skin to look red and scaly.Some things may cause a flare, meaning your psoriasis becomes worse for a while, including: Infections.Stress.Changes in the weather that dry out your skin.Certain medicines.Cuts, scratches or sunburns.Certain genes have been linked to psoriasis, meaning it runs in families.Psoriasis is an autoimmune disease, which means that your body's immune system - which protects you from diseases - starts overacting and causing problems. If you have psoriasis, a type of white blood cells called the T cells become so active that they trigger other immune system responses, including swelling and fast turnover of skin cells.Your skin cells grow deep in the skin and rise slowly to the surface. This is called cell turnover, and it usually takes about a month. If you have psoriasis, though, cell turnover can take only a few days. Your skin cells rise too fast and pile up on the surface, causing your skin to look red and scaly.Some things may cause a flare, meaning your psoriasis becomes worse for a while, including: Infections.Stress.Changes in the weather that dry out your skin.Certain medicines.Cuts, scratches or sunburns.Certain genes have been linked to psoriasis, meaning it runs in families.Psoriasis is an autoimmune disease, which means that your body's immune system - which protects you from diseases - starts overacting and causing problems. If you have psoriasis, a type of white blood cells called the T cells become so active that they trigger other immune system responses, including swelling and fast turnover of skin cells.Your skin cells grow deep in the skin and rise slowly to the surface. This is called cell turnover, and it usually takes about a month. If you have psoriasis, though, cell turnover can take only a few days. Your skin cells rise too fast and pile up on the surface, causing your skin to look red and scaly.Some things may cause a flare, meaning your psoriasis becomes worse for a while, including: Infections.Stress.Changes in the weather that dry out your skin.Certain medicines.Cuts, scratches or sunburns.Certain genes have been linked to psoriasis, meaning it runs in families. Is there a test? Is there a test for psoriasis? Psoriasis can be hard to diagnose because it can look like other skin diseases. Your doctor may look at a small sample of your skin under a microscope to help them figure out if psoriasis is causing your skin condition.Psoriasis can be hard to diagnose because it can look like other skin diseases. Your doctor may look at a small sample of your skin under a microscope to help them figure out if psoriasis is causing your skin condition.Psoriasis can be hard to diagnose because it can look like other skin diseases. Your doctor may look at a small sample of your skin under a microscope to help them figure out if psoriasis is causing your skin condition. How is it treated? How is psoriasis treated? There are several different types of treatment for psoriasis. Your doctor may recommend that you try one of these or a combination of them: Topical treatment, which means putting creams on your skin.Light therapy, which involves a doctor shining an ultraviolet light on your skin or getting more sunlight. It's important that a doctor controls the amount of light you are getting from this therapy, because too much ultraviolet light may make your psoriasis worse.Systemic treatment, which can include taking prescription medicines or getting shots of medicine.There are several different types of treatment for psoriasis. Your doctor may recommend that you try one of these or a combination of them: Topical treatment, which means putting creams on your skin.Light therapy, which involves a doctor shining an ultraviolet light on your skin or getting more sunlight. It's important that a doctor controls the amount of light you are getting from this therapy, because too much ultraviolet light may make your psoriasis worse.Systemic treatment, which can include taking prescription medicines or getting shots of medicine.There are several different types of treatment for psoriasis. Your doctor may recommend that you try one of these or a combination of them: Topical treatment, which means putting creams on your skin.Light therapy, which involves a doctor shining an ultraviolet light on your skin or getting more sunlight. It's important that a doctor controls the amount of light you are getting from this therapy, because too much ultraviolet light may make your psoriasis worse.Systemic treatment, which can include taking prescription medicines or getting shots of medicine. Who treats it? Who treats psoriasis? Several types of health care professionals may treat you, including: Dermatologists, who treat skin problems.Internists, who diagnose and treat adults.Several types of health care professionals may treat you, including: Dermatologists, who treat skin problems.Internists, who diagnose and treat adults.Several types of health care professionals may treat you, including: Dermatologists, who treat skin problems.Internists, who diagnose and treat adults. Living With It Living with psoriasis Psoriasis is a chronic disease, which means it lasts a long time. You can take an active role in treating your psoriasis. Besides going to your doctor regularly, here are some things you can try to help manage your symptoms: Keeping your skin well moisturized.Staying healthy overall.Joining support groups or counseling to help you realize you are not alone in dealing with psoriasis and to share ideas for coping with the disease.Psoriasis is a chronic disease, which means it lasts a long time. You can take an active role in treating your psoriasis. Besides going to your doctor regularly, here are some things you can try to help manage your symptoms: Keeping your skin well moisturized.Staying healthy overall.Joining support groups or counseling to help you realize you are not alone in dealing with psoriasis and to share ideas for coping with the disease. Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | {
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Some people may benefit from a psoriasis support group. The National Psoriasis Foundation is a good resource: www.psoriasis.org. | Psoriasis Plaque psoriasis Psoriasis vulgaris Guttate psoriasis Pustular psoriasis Summary Psoriasis is a skin condition that causes skin redness and irritation. Most people with psoriasis have thick, red, well-defined patches of skin with flaky, silver-white scales. These patches are called plaques. Causes Psoriasis is very common. Anyone can develop it, but it most often begins between ages 15 and 35, or as people get older. Psoriasis isn't contagious. This means it doesn't spread to other people. Psoriasis seems to be passed down through families. Normal skin cells grow deep in the skin and rise to the surface about once a month. When you have psoriasis, this process takes place in days rather than in 3 to 4 weeks. This results in dead skin cells building up on the skin's surface, forming the collections of scales. The following may trigger an attack of psoriasis or make it harder to treat: Infections from bacteria or viruses, including strep throat and upper respiratory infections Dry air or dry skin Injury to the skin, including cuts, burns, insect bites, and other skin rashes Some medicines, including antimalaria drugs, beta-blockers, and lithium Stress Too little sunlight Too much sunlight (sunburn) Psoriasis may be worse in people who have a weak immune system, including people with HIV/AIDS. Some people with psoriasis also have arthritis (psoriatic arthritis). In addition, people with psoriasis have an increased risk of fatty liver disease and cardiovascular disorders, such as heart disease and stroke. Symptoms Psoriasis can appear suddenly or slowly. Many times, it goes away and then comes back. The main symptom of the condition is irritated, red, flaky plaques of skin. Plaques are most often seen on the elbows, knees, and middle of the body. But they can appear anywhere, including on the scalp, palms, soles of the feet, and genitalia. The skin may be: Itchy Dry and covered with silver, flaky skin (scales) Pink-red in color Raised and thick Other symptoms may include: Joint or tendon pain or aching Nail changes, including thick nails, yellow-brown nails, dents in the nail, and a lifting of the nail from the skin underneath Severe dandruff on the scalp There are five main types of psoriasis: Erythrodermic -- The skin redness is very intense and covers a large area. Guttate -- Small, pink-red spots appear on the skin. This form is often linked to strep infections, especially in children. Inverse -- Skin redness and irritation occur in the armpits, groin, and in between overlapping skin rather than the more common areas of the elbows and knees. Plaque -- Thick, red patches of skin are covered by flaky, silver-white scales. This is the most common type of psoriasis. Pustular -- Yellow pus-filled blisters (pustules) are surrounded by red, irritated skin. Exams and Tests Your health care provider can usually diagnose this condition by looking at your skin. Sometimes, a skin biopsy is done to rule out other possible conditions. If you have joint pain, your provider may order imaging studies. Treatment The goal of treatment is to control your symptoms and prevent infection. Three treatment options are available: Skin lotions, ointments, creams, and shampoos -- These are called topical treatments. Pills or injections that affect the body's immune response, not just the skin -- These are called systemic, or body-wide, treatments. Phototherapy, which uses ultraviolet light to treat psoriasis. TREATMENTS USED ON THE SKIN (TOPICAL) Most of the time, psoriasis is treated with medicines that are placed directly on the skin or scalp. These may include: Cortisone creams and ointments Other anti-inflammatory creams and ointments Creams or ointments that contain coal tar or anthralin Creams to remove the scaling (usually salicylic acid or lactic acid) Dandruff shampoos (over-the-counter or prescription) Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) SYSTEMIC (BODY-WIDE) TREATMENTS If you have very severe psoriasis, your provider will likely recommend medicines that suppress the immune system's faulty response. These medicines include methotrexate or cyclosporine. Retinoids, such as acetretin, can also be used. Newer drugs, called biologics, are used when other treatments do not work. Biologics approved for the treatment of psoriasis include: Adalimumab (Humira) Abatacept (Orencia) Apremilast (Otezla) Brodalumab (Siliq) Certolizumab pegol (Cimzia) Etanercept (Enbrel) Infliximab (Remicade) Ixekizumab (Taltz) Golimumab (Simponi) Guselkumab (Tremfya) Ustekinumab (Stelara) Secukinumab (Cosentyx) PHOTOTHERAPY Some people may choose to have phototherapy, which is safe and can be very effective: This is treatment in which your skin is carefully exposed to ultraviolet light. It may be given alone or after you take a drug that makes the skin sensitive to light. Phototherapy for psoriasis can be given as ultraviolet A (UVA) or ultraviolet B (UVB) light. OTHER TREATMENTS If you have an infection, your provider will prescribe antibiotics. HOME CARE Following these tips at home may help: Taking a daily bath or shower -- Try not to scrub too hard, because this can irritate the skin and trigger an attack. Oatmeal baths may be soothing and may help to loosen scales. You can use over-the-counter oatmeal bath products. Or, you can mix 1 cup (240 mL) of oatmeal into a tub (bath) of warm water. Keeping your skin clean and moist, and avoiding your specific psoriasis triggers may help reduce the number of flare-ups. Sunlight may help your symptoms go away. Be careful not to get sunburned. Relaxation and anti-stress techniques -- The link between stress and flares of psoriasis is not well understood. Support Groups Some people may benefit from a psoriasis support group. The National Psoriasis Foundation is a good resource: www.psoriasis.org. Outlook (Prognosis) Psoriasis can be a lifelong condition that can be usually controlled with treatment. It may go away for a long time and then return. With proper treatment, it will not affect your overall health. But be aware that there is a strong link between psoriasis and other health problems, such as heart disease. When to Contact a Medical Professional Call your provider if you have symptoms of psoriasis or if your skin irritation continues despite treatment. Tell your provider if you have joint pain or fever with your psoriasis attacks. If you have symptoms of arthritis, talk to your dermatologist or rheumatologist. Go to the emergency room or call the local emergency number (such as 911) if you have a severe outbreak that covers all or most of your body. Prevention There is no known way to prevent psoriasis. Keeping the skin clean and moist and avoiding your psoriasis triggers may help reduce the number of flare-ups. Providers recommend daily baths or showers for people with psoriasis. Avoid scrubbing too hard, because this can irritate the skin and trigger an attack. Review Date 2/27/2018 Updated by: David L. Swanson, MD, Vice Chair of Medical Dermatology, Associate Professor of Dermatology, Mayo Medical School, Scottsdale, AZ. 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Infections, stress, dry skin and certain medications may make symptoms worse....Treatments include creams, medications and light therapy. | Psoriasis Summary Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. The skin on the elbows, knees, scalp, back, face, palms and feet is most often affected, but other parts of the body can be affected as well. A problem with the immune system causes psoriasis. In a process called cell turnover, skin cells that grow deep in the skin rise to the surface. Normally, this takes a month. In psoriasis, it happens in just days because the cells rise too fast. Although symptoms may come and go, for many, psoriasis is a lifelong condition. Infections, stress, dry skin and certain medications may make symptoms worse. Psoriasis usually occurs in adults. It sometimes runs in families. Treatments include creams, medications and light therapy. [1] [2] Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | {
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Keeping the skin clean and moist and avoiding your psoriasis triggers may help reduce the number of flare-ups. Providers recommend daily baths or showers for people with psoriasis. Avoid scrubbing too hard, because this can irritate the skin and trigger an attack. | Psoriasis Plaque psoriasis Psoriasis vulgaris Guttate psoriasis Pustular psoriasis Summary Psoriasis is a skin condition that causes skin redness and irritation. Most people with psoriasis have thick, red, well-defined patches of skin with flaky, silver-white scales. These patches are called plaques. Causes Psoriasis is very common. Anyone can develop it, but it most often begins between ages 15 and 35, or as people get older. Psoriasis isn't contagious. This means it doesn't spread to other people. Psoriasis seems to be passed down through families. Normal skin cells grow deep in the skin and rise to the surface about once a month. When you have psoriasis, this process takes place in days rather than in 3 to 4 weeks. This results in dead skin cells building up on the skin's surface, forming the collections of scales. The following may trigger an attack of psoriasis or make it harder to treat: Infections from bacteria or viruses, including strep throat and upper respiratory infections Dry air or dry skin Injury to the skin, including cuts, burns, insect bites, and other skin rashes Some medicines, including antimalaria drugs, beta-blockers, and lithium Stress Too little sunlight Too much sunlight (sunburn) Psoriasis may be worse in people who have a weak immune system, including people with HIV/AIDS. Some people with psoriasis also have arthritis (psoriatic arthritis). In addition, people with psoriasis have an increased risk of fatty liver disease and cardiovascular disorders, such as heart disease and stroke. Symptoms Psoriasis can appear suddenly or slowly. Many times, it goes away and then comes back. The main symptom of the condition is irritated, red, flaky plaques of skin. Plaques are most often seen on the elbows, knees, and middle of the body. But they can appear anywhere, including on the scalp, palms, soles of the feet, and genitalia. The skin may be: Itchy Dry and covered with silver, flaky skin (scales) Pink-red in color Raised and thick Other symptoms may include: Joint or tendon pain or aching Nail changes, including thick nails, yellow-brown nails, dents in the nail, and a lifting of the nail from the skin underneath Severe dandruff on the scalp There are five main types of psoriasis: Erythrodermic -- The skin redness is very intense and covers a large area. Guttate -- Small, pink-red spots appear on the skin. This form is often linked to strep infections, especially in children. Inverse -- Skin redness and irritation occur in the armpits, groin, and in between overlapping skin rather than the more common areas of the elbows and knees. Plaque -- Thick, red patches of skin are covered by flaky, silver-white scales. This is the most common type of psoriasis. Pustular -- Yellow pus-filled blisters (pustules) are surrounded by red, irritated skin. Exams and Tests Your health care provider can usually diagnose this condition by looking at your skin. Sometimes, a skin biopsy is done to rule out other possible conditions. If you have joint pain, your provider may order imaging studies. Treatment The goal of treatment is to control your symptoms and prevent infection. Three treatment options are available: Skin lotions, ointments, creams, and shampoos -- These are called topical treatments. Pills or injections that affect the body's immune response, not just the skin -- These are called systemic, or body-wide, treatments. Phototherapy, which uses ultraviolet light to treat psoriasis. TREATMENTS USED ON THE SKIN (TOPICAL) Most of the time, psoriasis is treated with medicines that are placed directly on the skin or scalp. These may include: Cortisone creams and ointments Other anti-inflammatory creams and ointments Creams or ointments that contain coal tar or anthralin Creams to remove the scaling (usually salicylic acid or lactic acid) Dandruff shampoos (over-the-counter or prescription) Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) SYSTEMIC (BODY-WIDE) TREATMENTS If you have very severe psoriasis, your provider will likely recommend medicines that suppress the immune system's faulty response. These medicines include methotrexate or cyclosporine. Retinoids, such as acetretin, can also be used. Newer drugs, called biologics, are used when other treatments do not work. Biologics approved for the treatment of psoriasis include: Adalimumab (Humira) Abatacept (Orencia) Apremilast (Otezla) Brodalumab (Siliq) Certolizumab pegol (Cimzia) Etanercept (Enbrel) Infliximab (Remicade) Ixekizumab (Taltz) Golimumab (Simponi) Guselkumab (Tremfya) Ustekinumab (Stelara) Secukinumab (Cosentyx) PHOTOTHERAPY Some people may choose to have phototherapy, which is safe and can be very effective: This is treatment in which your skin is carefully exposed to ultraviolet light. It may be given alone or after you take a drug that makes the skin sensitive to light. Phototherapy for psoriasis can be given as ultraviolet A (UVA) or ultraviolet B (UVB) light. OTHER TREATMENTS If you have an infection, your provider will prescribe antibiotics. HOME CARE Following these tips at home may help: Taking a daily bath or shower -- Try not to scrub too hard, because this can irritate the skin and trigger an attack. Oatmeal baths may be soothing and may help to loosen scales. You can use over-the-counter oatmeal bath products. Or, you can mix 1 cup (240 mL) of oatmeal into a tub (bath) of warm water. Keeping your skin clean and moist, and avoiding your specific psoriasis triggers may help reduce the number of flare-ups. Sunlight may help your symptoms go away. Be careful not to get sunburned. Relaxation and anti-stress techniques -- The link between stress and flares of psoriasis is not well understood. Support Groups Some people may benefit from a psoriasis support group. The National Psoriasis Foundation is a good resource: www.psoriasis.org. Outlook (Prognosis) Psoriasis can be a lifelong condition that can be usually controlled with treatment. It may go away for a long time and then return. With proper treatment, it will not affect your overall health. But be aware that there is a strong link between psoriasis and other health problems, such as heart disease. When to Contact a Medical Professional Call your provider if you have symptoms of psoriasis or if your skin irritation continues despite treatment. Tell your provider if you have joint pain or fever with your psoriasis attacks. If you have symptoms of arthritis, talk to your dermatologist or rheumatologist. Go to the emergency room or call the local emergency number (such as 911) if you have a severe outbreak that covers all or most of your body. Prevention There is no known way to prevent psoriasis. Keeping the skin clean and moist and avoiding your psoriasis triggers may help reduce the number of flare-ups. Providers recommend daily baths or showers for people with psoriasis. Avoid scrubbing too hard, because this can irritate the skin and trigger an attack. Review Date 2/27/2018 Updated by: David L. Swanson, MD, Vice Chair of Medical Dermatology, Associate Professor of Dermatology, Mayo Medical School, Scottsdale, AZ. 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Psoriasis treatments reduce inflammation and clear the skin. Treatments can be divided into three main types: topical treatments, light therapy and systemic medications. Used alone, creams and ointments that you apply to your skin can effectively treat mild to moderate psoriasis. When the disease is more severe, creams are likely to be combined with oral medications or light therapy. Topical psoriasis treatments include: - Topical corticosteroids. It's usually best to use topical corticosteroids as a short-term treatment during flares. - Vitamin D analogues. Calcipotriene (Dovonex) is a prescription cream or solution containing a vitamin D analogue that treats mild to moderate psoriasis along with other treatments. - Anthralin. This medication helps slow skin cell growth. Anthralin (Dritho-Scalp) can also remove scales and make skin smoother. But anthralin can irritate skin, and it stains almost anything it touches. It's usually applied for a short time and then washed off. - Topical retinoids. These are vitamin A derivatives that may decrease inflammation. These medications may also increase sensitivity to sunlight, so while using the medication apply sunscreen before going outdoors. Calcineurin inhibitors - tacrolimus (Prograf) and pimecrolimus (Elidel) - reduce inflammation and plaque buildup. - Salicylic acid. Available over-the-counter (nonprescription) and by prescription, salicylic acid promotes sloughing of dead skin cells and reduces scaling. Sometimes it's combined with other medications, such as topical corticosteroids or coal tar, to increase its effectiveness. Salicylic acid is available in medicated shampoos and scalp solutions to treat scalp psoriasis. - Coal tar. Derived from coal, coal tar reduces scaling, itching and inflammation. Coal tar can irritate the skin. It's also messy, stains clothing and bedding, and has a strong odor. Coal tar is available in over-the-counter shampoos, creams and oils. Light therapy (phototherapy) This treatment uses natural or artificial ultraviolet light. The simplest and easiest form of phototherapy involves exposing your skin to controlled amounts of natural sunlight. Other forms of light therapy include the use of artificial ultraviolet A (UVA) or ultraviolet B (UVB) light, either alone or in combination with medications. - Goeckerman therapy. Some doctors combine UVB treatment and coal tar treatment, which is known as Goeckerman treatment. The two therapies together are more effective than either alone because coal tar makes skin more receptive to UVB light. - Psoralen plus ultraviolet A (PUVA). This form of photochemotherapy involves taking a light-sensitizing medication (psoralen) before exposure to UVA light. If you have severe psoriasis or it's resistant to other types of treatment, your doctor may prescribe oral or injected drugs. This is known as systemic treatment. Because of severe side effects, some of these medications are used for only brief periods and may be alternated with other forms of treatment. - Retinoids. Related to vitamin A, this group of drugs may help if you have severe psoriasis that doesn't respond to other therapies. Side effects may include lip inflammation and hair loss. - Methotrexate. Taken orally, methotrexate (Rheumatrex) helps psoriasis by decreasing the production of skin cells and suppressing inflammation. It may also slow the progression of psoriatic arthritis in some people. - Cyclosporine. Cyclosporine (Gengraf, Neoral) suppresses the immune system and is similar to methotrexate in effectiveness, but can only be taken short-term. - Drugs that alter the immune system (biologics). Several of these drugs are approved for the treatment of moderate to severe psoriasis. They include etanercept (Enbrel), infliximab (Remicade), adalimumab (Humira), ustekinumab (Stelara), golimumab (Simponi), apremilast (Otezla), secukinumab (Cosentyx) and ixekizumab (Taltz). Most of these drugs are given by injection (apremilast is oral) and are usually used for people who have failed to respond to traditional therapy or who have associated psoriatic arthritis. Biologics must be used with caution because they have strong effects on the immune system and may permit life-threatening infections. In particular, people taking these treatments must be screened for tuberculosis. - Other medications. Thioguanine (Tabloid) and hydroxyurea (Droxia, Hydrea) are medications that can be used when other drugs can't be given. A number of alternative therapies claim to ease the symptoms of psoriasis, including special diets, creams, dietary supplements and herbs. None have definitively been proved effective. But some alternative therapies are deemed generally safe, and they may be helpful to some people in reducing signs and symptoms, such as itching and scaling. - Aloe vera. Taken from the leaves of the aloe vera plant, aloe extract cream may reduce redness, scaling, itching and inflammation. - Fish oil. Omega-3 fatty acids found in fish oil supplements may reduce inflammation associated with psoriasis, although results from studies are mixed. Taking 3 grams or less of fish oil daily is generally recognized as safe, and you may find it beneficial. - Oregon grape. Also known as barberry, topical applications of Oregon grape may reduce inflammation and ease psoriasis symptoms. These measures may benefit you: - Take daily baths. Bathing daily helps remove scales and calm inflamed skin. Add bath oil, colloidal oatmeal, Epsom salts or Dead Sea salts to the water and soak. Avoid hot water and harsh soaps, which can worsen symptoms; use lukewarm water and mild soaps that have added oils and fats. Soak about 10 minutes then gently pat dry skin. - Use moisturizer. After bathing, apply a heavy, ointment-based moisturizer while your skin is still moist. For very dry skin, oils may be preferable - they have more staying power than creams or lotions do and are more effective at preventing water from evaporating from your skin. During cold, dry weather, you may need to apply a moisturizer several times a day. - Expose your skin to small amounts of sunlight. A controlled amount of sunlight can improve psoriasis, but too much sun can trigger or worsen outbreaks and increase the risk of skin cancer. - Avoid psoriasis triggers, if possible. Find out what triggers, if any, worsen your psoriasis and take steps to prevent or avoid them. Infections, injuries to your skin, stress, smoking and intense sun exposure can all worsen psoriasis. - Avoid drinking alcohol. If you do drink, keep it moderate. | Psoriasis Overview Psoriasis is a common skin condition that speeds up the life cycle of skin cells. It causes cells to build up rapidly on the surface of the skin. The extra skin cells form scales and red patches that are itchy and sometimes painful. Psoriasis is a chronic disease that often comes and goes. The main goal of treatment is to stop the skin cells from growing so quickly. There is no cure for psoriasis, but you can manage symptoms. Lifestyle measures, such as moisturizing, quitting smoking and managing stress, may help. Psoriasis care at Mayo Clinic Symptoms Psoriasis signs and symptoms are different for everyone. Common signs and symptoms include: - Red patches of skin covered with thick, silvery scales - Small scaling spots (commonly seen in children) - Dry, cracked skin that may bleed - Itching, burning or soreness - Thickened, pitted or ridged nails - Swollen and stiff joints Psoriasis patches can range from a few spots of dandruff-like scaling to major eruptions that cover large areas. Most types of psoriasis go through cycles, flaring for a few weeks or months, then subsiding for a time or even going into complete remission. There are several types of psoriasis. These include: - Plaque psoriasis. The most common form, plaque psoriasis causes dry, raised, red skin lesions (plaques) covered with silvery scales. The plaques might be itchy or painful and there may be few or many. They can occur anywhere on your body, including your genitals and the soft tissue inside your mouth. - Nail psoriasis. Psoriasis can affect fingernails and toenails, causing pitting, abnormal nail growth and discoloration. Psoriatic nails might loosen and separate from the nail bed (onycholysis). Severe cases may cause the nail to crumble. - Guttate psoriasis. This type primarily affects young adults and children. It's usually triggered by a bacterial infection such as strep throat. It's marked by small, water-drop-shaped, scaling lesions on your trunk, arms, legs and scalp. The lesions are covered by a fine scale and aren't as thick as typical plaques are. You may have a single outbreak that goes away on its own, or you may have repeated episodes. - Inverse psoriasis. This mainly affects the skin in the armpits, in the groin, under the breasts and around the genitals. Inverse psoriasis causes smooth patches of red, inflamed skin that worsen with friction and sweating. Fungal infections may trigger this type of psoriasis. - Pustular psoriasis. This uncommon form of psoriasis can occur in widespread patches (generalized pustular psoriasis) or in smaller areas on your hands, feet or fingertips. It generally develops quickly, with pus-filled blisters appearing just hours after your skin becomes red and tender. The blisters may come and go frequently. Generalized pustular psoriasis can also cause fever, chills, severe itching and diarrhea. - Erythrodermic psoriasis. The least common type of psoriasis, erythrodermic psoriasis can cover your entire body with a red, peeling rash that can itch or burn intensely. - Psoriatic arthritis. In addition to inflamed, scaly skin, psoriatic arthritis causes swollen, painful joints that are typical of arthritis. Sometimes the joint symptoms are the first or only manifestation of psoriasis or at times only nail changes are seen. Symptoms range from mild to severe, and psoriatic arthritis can affect any joint. Although the disease usually isn't as crippling as other forms of arthritis, it can cause stiffness and progressive joint damage that in the most serious cases may lead to permanent deformity. If you suspect that you may have psoriasis, see your doctor for an examination. Also, talk to your doctor if your psoriasis: - Causes you discomfort and pain - Makes performing routine tasks difficult - Causes you concern about the appearance of your skin - Leads to joint problems, such as pain, swelling or inability to perform daily tasks Seek medical advice if your signs and symptoms worsen or don't improve with treatment. You may need a different medication or a combination of treatments to manage the psoriasis. Causes The cause of psoriasis isn't fully understood, but it's thought to be related to an immune system problem with T cells and other white blood cells, called neutrophils, in your body. T cells normally travel through the body to defend against foreign substances, such as viruses or bacteria. But if you have psoriasis, the T cells attack healthy skin cells by mistake, as if to heal a wound or to fight an infection. Overactive T cells also trigger increased production of healthy skin cells, more T cells and other white blood cells, especially neutrophils. These travel into the skin causing redness and sometimes pus in pustular lesions. Dilated blood vessels in psoriasis-affected areas create warmth and redness in the skin lesions. The process becomes an ongoing cycle in which new skin cells move to the outermost layer of skin too quickly - in days rather than weeks. Skin cells build up in thick, scaly patches on the skin's surface, continuing until treatment stops the cycle. Just what causes T cells to malfunction in people with psoriasis isn't entirely clear. Researchers believe both genetics and environmental factors play a role. Psoriasis typically starts or worsens because of a trigger that you may be able to identify and avoid. Factors that may trigger psoriasis include: - Infections, such as strep throat or skin infections - Injury to the skin, such as a cut or scrape, a bug bite, or a severe sunburn - Stress - Smoking - Heavy alcohol consumption - Vitamin D deficiency - Certain medications - including lithium, which is prescribed for bipolar disorder, high blood pressure medications such as beta blockers, antimalarial drugs, and iodides Risk factors Anyone can develop psoriasis, but these factors can increase your risk of developing the disease: - Family history. This is one of the most significant risk factors. Having one parent with psoriasis increases your risk of getting the disease, and having two parents with psoriasis increases your risk even more. - Viral and bacterial infections. People with HIV are more likely to develop psoriasis than people with healthy immune systems are. Children and young adults with recurring infections, particularly strep throat, also may be at increased risk. - Stress. Because stress can impact your immune system, high stress levels may increase your risk of psoriasis. - Obesity. Excess weight increases the risk of psoriasis. Lesions (plaques) associated with all types of psoriasis often develop in skin creases and folds. - Smoking. Smoking tobacco not only increases your risk of psoriasis but also may increase the severity of the disease. Smoking may also play a role in the initial development of the disease. Diagnosis In most cases, diagnosis of psoriasis is fairly straightforward. - Physical exam and medical history. Your doctor usually can diagnose psoriasis by taking your medical history and examining your skin, scalp and nails. - Skin biopsy. Rarely, your doctor may take a small sample of skin (biopsy). He or she will likely first apply a local anesthetic. The sample is examined under a microscope to determine the exact type of psoriasis and to rule out other disorders. Treatment Psoriasis treatments reduce inflammation and clear the skin. Treatments can be divided into three main types: topical treatments, light therapy and systemic medications. Topical treatments Used alone, creams and ointments that you apply to your skin can effectively treat mild to moderate psoriasis. When the disease is more severe, creams are likely to be combined with oral medications or light therapy. Topical psoriasis treatments include: - Topical corticosteroids. These drugs are the most frequently prescribed medications for treating mild to moderate psoriasis. They reduce inflammation and relieve itching and may be used with other treatments. Mild corticosteroid ointments are usually recommended for sensitive areas, such as your face or skin folds, and for treating widespread patches of damaged skin. Your doctor may prescribe stronger corticosteroid ointment for smaller, less sensitive or tougher-to-treat areas. Long-term use or overuse of strong corticosteroids can cause thinning of the skin. Topical corticosteroids may stop working over time. It's usually best to use topical corticosteroids as a short-term treatment during flares. - Vitamin D analogues. These synthetic forms of vitamin D slow skin cell growth. Calcipotriene (Dovonex) is a prescription cream or solution containing a vitamin D analogue that treats mild to moderate psoriasis along with other treatments. Calcipotriene might irritate your skin. Calcitriol (Vectical) is expensive but may be equally effective and possibly less irritating than calcipotriene. - Anthralin. This medication helps slow skin cell growth. Anthralin (Dritho-Scalp) can also remove scales and make skin smoother. But anthralin can irritate skin, and it stains almost anything it touches. It's usually applied for a short time and then washed off. - Topical retinoids. These are vitamin A derivatives that may decrease inflammation. The most common side effect is skin irritation. These medications may also increase sensitivity to sunlight, so while using the medication apply sunscreen before going outdoors. The risk of birth defects is far lower for topical retinoids than for oral retinoids. But tazarotene (Tazorac, Avage) isn't recommended when you're pregnant or breast-feeding or if you intend to become pregnant. - Calcineurin inhibitors. Calcineurin inhibitors - tacrolimus (Prograf) and pimecrolimus (Elidel) - reduce inflammation and plaque buildup. Calcineurin inhibitors are not recommended for long-term or continuous use because of a potential increased risk of skin cancer and lymphoma. They may be especially helpful in areas of thin skin, such as around the eyes, where steroid creams or retinoids are too irritating or may cause harmful effects. - Salicylic acid. Available over-the-counter (nonprescription) and by prescription, salicylic acid promotes sloughing of dead skin cells and reduces scaling. Sometimes it's combined with other medications, such as topical corticosteroids or coal tar, to increase its effectiveness. Salicylic acid is available in medicated shampoos and scalp solutions to treat scalp psoriasis. - Coal tar. Derived from coal, coal tar reduces scaling, itching and inflammation. Coal tar can irritate the skin. It's also messy, stains clothing and bedding, and has a strong odor. Coal tar is available in over-the-counter shampoos, creams and oils. It's also available in higher concentrations by prescription. This treatment isn't recommended for women who are pregnant or breast-feeding. - Moisturizers. Moisturizing creams alone won't heal psoriasis, but they can reduce itching, scaling and dryness. Moisturizers in an ointment base are usually more effective than are lighter creams and lotions. Apply immediately after a bath or shower to lock in moisture. Light therapy (phototherapy) This treatment uses natural or artificial ultraviolet light. The simplest and easiest form of phototherapy involves exposing your skin to controlled amounts of natural sunlight. Other forms of light therapy include the use of artificial ultraviolet A (UVA) or ultraviolet B (UVB) light, either alone or in combination with medications. - Sunlight. Exposure to ultraviolet (UV) rays in sunlight or artificial light slows skin cell turnover and reduces scaling and inflammation. Brief, daily exposures to small amounts of sunlight may improve psoriasis, but intense sun exposure can worsen symptoms and cause skin damage. Before beginning a sunlight regimen, ask your doctor about the safest way to use natural sunlight for psoriasis treatment. - UVB phototherapy. Controlled doses of UVB light from an artificial light source may improve mild to moderate psoriasis symptoms. UVB phototherapy, also called broadband UVB, can be used to treat single patches, widespread psoriasis and psoriasis that resists topical treatments. Short-term side effects may include redness, itching and dry skin. Using a moisturizer may help decrease these side effects. - Narrow band UVB phototherapy. A newer type of psoriasis treatment, narrow band UVB phototherapy may be more effective than broadband UVB treatment. It's usually administered two or three times a week until the skin improves, and then maintenance may require only weekly sessions. Narrow band UVB phototherapy may cause more-severe and longer lasting burns, however. - Goeckerman therapy. Some doctors combine UVB treatment and coal tar treatment, which is known as Goeckerman treatment. The two therapies together are more effective than either alone because coal tar makes skin more receptive to UVB light. - Psoralen plus ultraviolet A (PUVA). This form of photochemotherapy involves taking a light-sensitizing medication (psoralen) before exposure to UVA light. UVA light penetrates deeper into the skin than does UVB light, and psoralen makes the skin more responsive to UVA exposure. This more aggressive treatment consistently improves skin and is often used for more-severe cases of psoriasis. Short-term side effects include nausea, headache, burning and itching. Long-term side effects include dry and wrinkled skin, freckles, increased sun sensitivity, and increased risk of skin cancer, including melanoma. - Excimer laser. This form of light therapy, used for mild to moderate psoriasis, treats only the involved skin without harming healthy skin. A controlled beam of UVB light is directed to the psoriasis plaques to control scaling and inflammation. Excimer laser therapy requires fewer sessions than does traditional phototherapy because more powerful UVB light is used. Side effects can include redness and blistering. Oral or injected medications If you have severe psoriasis or it's resistant to other types of treatment, your doctor may prescribe oral or injected drugs. This is known as systemic treatment. Because of severe side effects, some of these medications are used for only brief periods and may be alternated with other forms of treatment. - Retinoids. Related to vitamin A, this group of drugs may help if you have severe psoriasis that doesn't respond to other therapies. Side effects may include lip inflammation and hair loss. And because retinoids such as acitretin (Soriatane) can cause severe birth defects, women must avoid pregnancy for at least three years after taking the medication. - Methotrexate. Taken orally, methotrexate (Rheumatrex) helps psoriasis by decreasing the production of skin cells and suppressing inflammation. It may also slow the progression of psoriatic arthritis in some people. Methotrexate is generally well-tolerated in low doses but may cause upset stomach, loss of appetite and fatigue. When used for long periods, it can cause a number of serious side effects, including severe liver damage and decreased production of red and white blood cells and platelets. - Cyclosporine. Cyclosporine (Gengraf, Neoral) suppresses the immune system and is similar to methotrexate in effectiveness, but can only be taken short-term. Like other immunosuppressant drugs, cyclosporine increases your risk of infection and other health problems, including cancer. Cyclosporine also makes you more susceptible to kidney problems and high blood pressure - the risk increases with higher dosages and long-term therapy. - Drugs that alter the immune system (biologics). Several of these drugs are approved for the treatment of moderate to severe psoriasis. They include etanercept (Enbrel), infliximab (Remicade), adalimumab (Humira), ustekinumab (Stelara), golimumab (Simponi), apremilast (Otezla), secukinumab (Cosentyx) and ixekizumab (Taltz). Most of these drugs are given by injection (apremilast is oral) and are usually used for people who have failed to respond to traditional therapy or who have associated psoriatic arthritis. Biologics must be used with caution because they have strong effects on the immune system and may permit life-threatening infections. In particular, people taking these treatments must be screened for tuberculosis. - Other medications. Thioguanine (Tabloid) and hydroxyurea (Droxia, Hydrea) are medications that can be used when other drugs can't be given. Treatment considerations Although doctors choose treatments based on the type and severity of psoriasis and the areas of skin affected, the traditional approach is to start with the mildest treatments - topical creams and ultraviolet light therapy (phototherapy) - in those patients with typical skin lesions (plaques) and then progress to stronger ones only if necessary. Patients with pustular or erythrodermic psoriasis or associated arthritis usually need systemic therapy from the beginning of treatment. The goal is to find the most effective way to slow cell turnover with the fewest possible side effects. Potential future treatments There are a number of new medications currently being researched that have the potential to improve psoriasis treatment. These treatments target different proteins that work with the immune system. Alternative medicine A number of alternative therapies claim to ease the symptoms of psoriasis, including special diets, creams, dietary supplements and herbs. None have definitively been proved effective. But some alternative therapies are deemed generally safe, and they may be helpful to some people in reducing signs and symptoms, such as itching and scaling. These treatments would be most appropriate for those with milder, plaque disease and not for those with pustules, erythroderma or arthritis. - Aloe vera. Taken from the leaves of the aloe vera plant, aloe extract cream may reduce redness, scaling, itching and inflammation. You may need to use the cream several times a day for a month or more to see any improvements in your skin. - Fish oil. Omega-3 fatty acids found in fish oil supplements may reduce inflammation associated with psoriasis, although results from studies are mixed. Taking 3 grams or less of fish oil daily is generally recognized as safe, and you may find it beneficial. - Oregon grape. Also known as barberry, topical applications of Oregon grape may reduce inflammation and ease psoriasis symptoms. If you're considering dietary supplements or other alternative therapy to ease the symptoms of psoriasis, consult your doctor. He or she can help you weigh the pros and cons of specific alternative therapies. Lifestyle and home remedies Although self-help measures won't cure psoriasis, they may help improve the appearance and feel of damaged skin. These measures may benefit you: - Take daily baths. Bathing daily helps remove scales and calm inflamed skin. Add bath oil, colloidal oatmeal, Epsom salts or Dead Sea salts to the water and soak. Avoid hot water and harsh soaps, which can worsen symptoms; use lukewarm water and mild soaps that have added oils and fats. Soak about 10 minutes then gently pat dry skin. - Use moisturizer. After bathing, apply a heavy, ointment-based moisturizer while your skin is still moist. For very dry skin, oils may be preferable - they have more staying power than creams or lotions do and are more effective at preventing water from evaporating from your skin. During cold, dry weather, you may need to apply a moisturizer several times a day. - Expose your skin to small amounts of sunlight. A controlled amount of sunlight can improve psoriasis, but too much sun can trigger or worsen outbreaks and increase the risk of skin cancer. First ask your doctor about the best way to use natural sunlight to treat your skin. Log your time in the sun, and protect skin that isn't affected by psoriasis with sunscreen. - Avoid psoriasis triggers, if possible. Find out what triggers, if any, worsen your psoriasis and take steps to prevent or avoid them. Infections, injuries to your skin, stress, smoking and intense sun exposure can all worsen psoriasis. - Avoid drinking alcohol. Alcohol consumption may decrease the effectiveness of some psoriasis treatments. If you have psoriasis, avoid alcohol. If you do drink, keep it moderate. Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications. | {
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There is no cure for multiple sclerosis. Treatment typically focuses on speeding recovery from attacks, slowing the progression of the disease and managing MS symptoms. For primary-progressive MS, ocrelizumab (Ocrevus) is the only FDA-approved disease-modifying therapy. It slows worsening of disability in people with this type of MS. For relapsing-remitting MS, several disease-modifying therapies are available. | Multiple sclerosis Overview Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system). In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause the nerves themselves to deteriorate or become permanently damaged. Signs and symptoms of MS vary widely and depend on the amount of nerve damage and which nerves are affected. Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms. There's no cure for multiple sclerosis. However, treatments can help speed recovery from attacks, modify the course of the disease and manage symptoms. Find out why Mayo Clinic is the best place for your care. Symptoms Multiple sclerosis signs and symptoms may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibers. They may include: - Numbness or weakness in one or more limbs that typically occurs on one side of your body at a time, or the legs and trunk - Partial or complete loss of vision, usually in one eye at a time, often with pain during eye movement - Prolonged double vision - Tingling or pain in parts of your body - Electric-shock sensations that occur with certain neck movements, especially bending the neck forward (Lhermitte sign) - Tremor, lack of coordination or unsteady gait - Slurred speech - Fatigue - Dizziness - Problems with bowel and bladder function When to see a doctor See a doctor if you experience any of the above symptoms for unknown reasons. Disease course Most people with MS have a relapsing-remitting disease course. They experience periods of new symptoms or relapses that develop over days or weeks and usually improve partially or completely. These relapses are followed by quiet periods of disease remission that can last months or even years. Small increases in body temperature can temporarily worsen signs and symptoms of MS, but these aren't considered disease relapses. About 60 to 70 percent of people with relapsing-remitting MS eventually develop a steady progression of symptoms, with or without periods of remission, known as secondary-progressive MS. The worsening of symptoms usually includes problems with mobility and gait. The rate of disease progression varies greatly among people with secondary-progressive MS. Some people with MS experience a gradual onset and steady progression of signs and symptoms without any relapses. This is known as primary-progressive MS. Causes The cause of multiple sclerosis is unknown. It's considered an autoimmune disease in which the body's immune system attacks its own tissues. In the case of MS, this immune system malfunction destroys myelin (the fatty substance that coats and protects nerve fibers in the brain and spinal cord). Myelin can be compared to the insulation coating on electrical wires. When the protective myelin is damaged and nerve fiber is exposed, the messages that travel along that nerve may be slowed or blocked. The nerve may also become damaged itself. It isn't clear why MS develops in some people and not others. A combination of genetics and environmental factors appears to be responsible. Risk factors These factors may increase your risk of developing multiple sclerosis: - Age. MS can occur at any age, but most commonly affects people between the ages of 15 and 60. - Sex. Women are about twice as likely as men are to develop MS. - Family history. If one of your parents or siblings has had MS, you are at higher risk of developing the disease. - Certain infections. A variety of viruses have been linked to MS, including Epstein-Barr, the virus that causes infectious mononucleosis. - Race. White people, particularly those of Northern European descent, are at highest risk of developing MS. People of Asian, African or Native American descent have the lowest risk. - Climate. MS is far more common in countries with temperate climates, including Canada, the northern United States, New Zealand, southeastern Australia and Europe. - Certain autoimmune diseases. You have a slightly higher risk of developing MS if you have thyroid disease, type 1 diabetes or inflammatory bowel disease. - Smoking. Smokers who experience an initial event of symptoms that may signal MS are more likely than nonsmokers to develop a second event that confirms relapsing-remitting MS. Diagnosis There are no specific tests for MS. Instead, a diagnosis of multiple sclerosis often relies on ruling out other conditions that might produce similar signs and symptoms, known as a differential diagnosis. Your doctor is likely to start with a thorough medical history and examination. Your doctor may then recommend: - Blood tests, to help rule out other diseases with symptoms similar to MS. Tests to check for specific biomarkers associated with MS are currently under development and may also aid in diagnosing the disease. - Lumbar puncture (spinal tap), in which a small sample of fluid is removed from your spinal canal for laboratory analysis. This sample can show abnormalities in antibodies that are associated with MS. Spinal tap can also help rule out infections and other conditions with symptoms similar to MS. - MRI, which can reveal areas of MS (lesions) on your brain and spinal cord. You may receive an intravenous injection of a contrast material to highlight lesions that indicate your disease is in an active phase. - Evoked potential tests, which record the electrical signals produced by your nervous system in response to stimuli. An evoked potential test may use visual stimuli or electrical stimuli, in which you watch a moving visual pattern, or short electrical impulses are applied to nerves in your legs or arms. Electrodes measure how quickly the information travels down your nerve pathways. In most people with relapsing-remitting MS, the diagnosis is fairly straightforward and based on a pattern of symptoms consistent with the disease and confirmed by brain imaging scans, such as MRI. Diagnosing MS can be more difficult in persons with unusual symptoms or progressive disease. In these cases, further testing with spinal fluid analysis, evoked potentials and additional imaging may be needed. Treatment There is no cure for multiple sclerosis. Treatment typically focuses on speeding recovery from attacks, slowing the progression of the disease and managing MS symptoms. Some people have such mild symptoms that no treatment is necessary. Treatments for MS attacks - Corticosteroids, such as oral prednisone and intravenous methylprednisolone, are prescribed to reduce nerve inflammation. Side effects may include insomnia, increased blood pressure, mood swings and fluid retention. - Plasma exchange (plasmapheresis). The liquid portion of part of your blood (plasma) is removed and separated from your blood cells. The blood cells are then mixed with a protein solution (albumin) and put back into your body. Plasma exchange may be used if your symptoms are new, severe and haven't responded to steroids. Treatments to modify progression For primary-progressive MS, ocrelizumab (Ocrevus) is the only FDA-approved disease-modifying therapy. It slows worsening of disability in people with this type of MS. For relapsing-remitting MS, several disease-modifying therapies are available. Much of the immune response associated with MS occurs in the early stages of the disease. Aggressive treatment with these medications as early as possible can lower the relapse rate and slow the formation of new lesions. Many of the disease-modifying therapies used to treat MS carry significant health risks. Selecting the right therapy for you will depend on careful consideration of many factors, including duration and severity of disease, effectiveness of previous MS treatments, other health issues, cost, and child-bearing status. Treatment options for relapsing-remitting MS include: - Beta interferons. These medications are among the most commonly prescribed medications to treat MS. They are injected under the skin or into muscle and can reduce the frequency and severity of relapses. Side effects of beta interferons may include flu-like symptoms and injection-site reactions. You'll need blood tests to monitor your liver enzymes because liver damage is a possible side effect of interferon use. People taking interferons may develop neutralizing antibodies that can reduce drug effectiveness. - Ocrelizumab (Ocrevus). This humanized immunoglobulin antibody medication is the only DMT approved by the FDA to treat both the relapse-remitting and primary progressive forms of MS. Clinical trials showed it reduced relapse rate in relapsing disease and slowed worsening of disability in both forms of the disease. Ocrevus is given via an intravenous infusion by a medical professional. Side effects may infusion-related reactions including irritation at the injection site, low blood pressure, fever, and nausea among others. Ocrevus may also increase the risk of some types of cancer, particularly breast cancer. - Glatiramer acetate (Copaxone). This medication may help block your immune system's attack on myelin and must be injected beneath the skin. Side effects may include skin irritation at the injection site. - Dimethyl fumarate (Tecfidera). This twice-daily oral medication can reduce relapses. Side effects may include flushing, diarrhea, nausea and lowered white blood cell count. - Fingolimod (Gilenya). This once-daily oral medication reduces relapse rate. You'll need to have your heart rate monitored for six hours after the first dose because your heartbeat may be slowed. Other side effects include headache, high blood pressure and blurred vision. - Teriflunomide (Aubagio). This once-daily medication can reduce relapse rate. Teriflunomide can cause liver damage, hair loss and other side effects. It is harmful to a developing fetus and should not be used by women who may become pregnant and are not using appropriate contraception, or their male partner. - Natalizumab (Tysabri). This medication is designed to block the movement of potentially damaging immune cells from your bloodstream to your brain and spinal cord. It may be considered a first line treatment for some people with severe MS or as a second line treatment in others. This medication increases the risk of a viral infection of the brain called progressive multifocal leukoencephalopathy in some people. - Alemtuzumab (Lemtrada). This drug helps reduce relapses of MS by targeting a protein on the surface of immune cells and depleting white blood cells. This effect can limit potential nerve damage caused by the white blood cells, but it also increases the risk of infections and autoimmune disorders. Treatment with alemtuzumab involves five consecutive days of drug infusions followed by another three days of infusions a year later. Infusion reactions are common with alemtuzumab. The drug is only available from registered providers, and people treated with the drug must be registered in a special drug safety monitoring program. - Mitoxantrone. This immunosuppressant drug can be harmful to the heart and is associated with development of blood cancers. As a result, its use in treating MS is extremely limited. Mitoxantrone is usually used only to treat severe, advanced MS. Treatments for MS signs and symptoms - Physical therapy. A physical or occupational therapist can teach you stretching and strengthening exercises and show you how to use devices to make it easier to perform daily tasks. Physical therapy along with the use of a mobility aid when necessary can also help manage leg weakness and other gait problems often associated with MS. - Muscle relaxants. You may experience painful or uncontrollable muscle stiffness or spasms, particularly in your legs. Muscle relaxants such as baclofen (Lioresal) and tizanidine (Zanaflex) may help. - Medications to reduce fatigue. - Other medications. Medications also may be prescribed for depression, pain, sexual dysfunction, and bladder or bowel control problems that are associated with MS. Lifestyle and home remedies To help relieve the signs and symptoms of MS, try to: - Get plenty of rest. - Exercise. If you have mild to moderate MS, regular exercise can help improve your strength, muscle tone, balance and coordination. Swimming or other water exercises are good options if you're bothered by heat. Other types of mild to moderate exercise recommended for people with MS include walking, stretching, low-impact aerobics, stationary bicycling, yoga and tai chi. - Cool down. MS symptoms often worsen when your body temperature rises. Avoiding exposure to heat and using devices such as cooling scarves or vests can be helpful. - Eat a balanced diet. Results of small studies suggest that a diet low in saturated fat but high in omega-3 fatty acids, such as those found in olive and fish oils, may be beneficial. But further research is needed. Studies also suggest that vitamin D may have potential benefit for people with MS. - Relieve stress. Stress may trigger or worsen your signs and symptoms. Yoga, tai chi, massage, meditation or deep breathing may help. Alternative medicine Many people with MS use a variety of alternative or complementary treatments or both to help manage their symptoms, such as fatigue and muscle pain. Activities such as exercise, meditation, yoga, massage, eating a healthier diet, acupuncture and relaxation techniques may help boost overall mental and physical well-being, but there are few studies to back up their use in managing symptoms of MS. Guidelines from the American Academy of Neurology recommend the use of oral cannabis extract for muscle spasticity and pain, but do not recommend cannabis in any other form for other MS symptoms due to a lack of evidence. The guidelines also do not recommend the use of herbal supplements such as Ginkgo biloba and bee venom or magnetic therapy for MS symptoms. Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | {
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Scientists continue their extensive efforts to create new and better therapies for MS. One of the most promising MS research areas involves naturally occurring antiviral proteins known as interferons. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. In addition, there are a number of treatments under investigation that may curtail attacks or improve function. Over a dozen clinical trials testing potential therapies are underway, and additional new treatments are being devised and tested in animal models. | Multiple Sclerosis What is Multiple Sclerosis? An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus. Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance. These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations. Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS. Is there any treatment? There is as yet no cure for MS. Many patients do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. Other FDA approved drugs to treat relapsing forms of MS in adults include teriflunomide and dimethyl fumarate. An immunosuppressant treatment, Novantrone (mitoxantrone), is approved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS. One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. However, in 2005 the drug’s manufacturer voluntarily suspended marketing of the drug after several reports of significant adverse events. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians. While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used. What is the prognosis? A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment. What research is being done? The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Scientists continue their extensive efforts to create new and better therapies for MS. One of the most promising MS research areas involves naturally occurring antiviral proteins known as interferons. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. In addition, there are a number of treatments under investigation that may curtail attacks or improve function. Over a dozen clinical trials testing potential therapies are underway, and additional new treatments are being devised and tested in animal models. In 2001, the National Academies/Institute of Medicine, a Federal technical and scientific advisory agency, prepared a strategic review of MS research. To read or download the National Academies/Institute of Medicine report, go to: "Multiple Sclerosis: Current Status and Strategies for the Future." Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | {
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There is no cure for multiple sclerosis. Treatment typically focuses on speeding recovery from attacks, slowing the progression of the disease and managing MS symptoms. Treatments to modify progression For primary-progressive MS, ocrelizumab (Ocrevus) is the only FDA-approved disease-modifying therapy. It slows worsening of disability in people with this type of MS. For relapsing-remitting MS, several disease-modifying therapies are available. | Multiple sclerosis Overview Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system). In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause the nerves themselves to deteriorate or become permanently damaged. Signs and symptoms of MS vary widely and depend on the amount of nerve damage and which nerves are affected. Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms. There's no cure for multiple sclerosis. However, treatments can help speed recovery from attacks, modify the course of the disease and manage symptoms. Find out why Mayo Clinic is the best place for your care. Symptoms Multiple sclerosis signs and symptoms may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibers. They may include: - Numbness or weakness in one or more limbs that typically occurs on one side of your body at a time, or the legs and trunk - Partial or complete loss of vision, usually in one eye at a time, often with pain during eye movement - Prolonged double vision - Tingling or pain in parts of your body - Electric-shock sensations that occur with certain neck movements, especially bending the neck forward (Lhermitte sign) - Tremor, lack of coordination or unsteady gait - Slurred speech - Fatigue - Dizziness - Problems with bowel and bladder function When to see a doctor See a doctor if you experience any of the above symptoms for unknown reasons. Disease course Most people with MS have a relapsing-remitting disease course. They experience periods of new symptoms or relapses that develop over days or weeks and usually improve partially or completely. These relapses are followed by quiet periods of disease remission that can last months or even years. Small increases in body temperature can temporarily worsen signs and symptoms of MS, but these aren't considered disease relapses. About 60 to 70 percent of people with relapsing-remitting MS eventually develop a steady progression of symptoms, with or without periods of remission, known as secondary-progressive MS. The worsening of symptoms usually includes problems with mobility and gait. The rate of disease progression varies greatly among people with secondary-progressive MS. Some people with MS experience a gradual onset and steady progression of signs and symptoms without any relapses. This is known as primary-progressive MS. Causes The cause of multiple sclerosis is unknown. It's considered an autoimmune disease in which the body's immune system attacks its own tissues. In the case of MS, this immune system malfunction destroys myelin (the fatty substance that coats and protects nerve fibers in the brain and spinal cord). Myelin can be compared to the insulation coating on electrical wires. When the protective myelin is damaged and nerve fiber is exposed, the messages that travel along that nerve may be slowed or blocked. The nerve may also become damaged itself. It isn't clear why MS develops in some people and not others. A combination of genetics and environmental factors appears to be responsible. Risk factors These factors may increase your risk of developing multiple sclerosis: - Age. MS can occur at any age, but most commonly affects people between the ages of 15 and 60. - Sex. Women are about twice as likely as men are to develop MS. - Family history. If one of your parents or siblings has had MS, you are at higher risk of developing the disease. - Certain infections. A variety of viruses have been linked to MS, including Epstein-Barr, the virus that causes infectious mononucleosis. - Race. White people, particularly those of Northern European descent, are at highest risk of developing MS. People of Asian, African or Native American descent have the lowest risk. - Climate. MS is far more common in countries with temperate climates, including Canada, the northern United States, New Zealand, southeastern Australia and Europe. - Certain autoimmune diseases. You have a slightly higher risk of developing MS if you have thyroid disease, type 1 diabetes or inflammatory bowel disease. - Smoking. Smokers who experience an initial event of symptoms that may signal MS are more likely than nonsmokers to develop a second event that confirms relapsing-remitting MS. Diagnosis There are no specific tests for MS. Instead, a diagnosis of multiple sclerosis often relies on ruling out other conditions that might produce similar signs and symptoms, known as a differential diagnosis. Your doctor is likely to start with a thorough medical history and examination. Your doctor may then recommend: - Blood tests, to help rule out other diseases with symptoms similar to MS. Tests to check for specific biomarkers associated with MS are currently under development and may also aid in diagnosing the disease. - Lumbar puncture (spinal tap), in which a small sample of fluid is removed from your spinal canal for laboratory analysis. This sample can show abnormalities in antibodies that are associated with MS. Spinal tap can also help rule out infections and other conditions with symptoms similar to MS. - MRI, which can reveal areas of MS (lesions) on your brain and spinal cord. You may receive an intravenous injection of a contrast material to highlight lesions that indicate your disease is in an active phase. - Evoked potential tests, which record the electrical signals produced by your nervous system in response to stimuli. An evoked potential test may use visual stimuli or electrical stimuli, in which you watch a moving visual pattern, or short electrical impulses are applied to nerves in your legs or arms. Electrodes measure how quickly the information travels down your nerve pathways. In most people with relapsing-remitting MS, the diagnosis is fairly straightforward and based on a pattern of symptoms consistent with the disease and confirmed by brain imaging scans, such as MRI. Diagnosing MS can be more difficult in persons with unusual symptoms or progressive disease. In these cases, further testing with spinal fluid analysis, evoked potentials and additional imaging may be needed. Treatment There is no cure for multiple sclerosis. Treatment typically focuses on speeding recovery from attacks, slowing the progression of the disease and managing MS symptoms. Some people have such mild symptoms that no treatment is necessary. Treatments for MS attacks - Corticosteroids, such as oral prednisone and intravenous methylprednisolone, are prescribed to reduce nerve inflammation. Side effects may include insomnia, increased blood pressure, mood swings and fluid retention. - Plasma exchange (plasmapheresis). The liquid portion of part of your blood (plasma) is removed and separated from your blood cells. The blood cells are then mixed with a protein solution (albumin) and put back into your body. Plasma exchange may be used if your symptoms are new, severe and haven't responded to steroids. Treatments to modify progression For primary-progressive MS, ocrelizumab (Ocrevus) is the only FDA-approved disease-modifying therapy. It slows worsening of disability in people with this type of MS. For relapsing-remitting MS, several disease-modifying therapies are available. Much of the immune response associated with MS occurs in the early stages of the disease. Aggressive treatment with these medications as early as possible can lower the relapse rate and slow the formation of new lesions. Many of the disease-modifying therapies used to treat MS carry significant health risks. Selecting the right therapy for you will depend on careful consideration of many factors, including duration and severity of disease, effectiveness of previous MS treatments, other health issues, cost, and child-bearing status. Treatment options for relapsing-remitting MS include: - Beta interferons. These medications are among the most commonly prescribed medications to treat MS. They are injected under the skin or into muscle and can reduce the frequency and severity of relapses. Side effects of beta interferons may include flu-like symptoms and injection-site reactions. You'll need blood tests to monitor your liver enzymes because liver damage is a possible side effect of interferon use. People taking interferons may develop neutralizing antibodies that can reduce drug effectiveness. - Ocrelizumab (Ocrevus). This humanized immunoglobulin antibody medication is the only DMT approved by the FDA to treat both the relapse-remitting and primary progressive forms of MS. Clinical trials showed it reduced relapse rate in relapsing disease and slowed worsening of disability in both forms of the disease. Ocrevus is given via an intravenous infusion by a medical professional. Side effects may infusion-related reactions including irritation at the injection site, low blood pressure, fever, and nausea among others. Ocrevus may also increase the risk of some types of cancer, particularly breast cancer. - Glatiramer acetate (Copaxone). This medication may help block your immune system's attack on myelin and must be injected beneath the skin. Side effects may include skin irritation at the injection site. - Dimethyl fumarate (Tecfidera). This twice-daily oral medication can reduce relapses. Side effects may include flushing, diarrhea, nausea and lowered white blood cell count. - Fingolimod (Gilenya). This once-daily oral medication reduces relapse rate. You'll need to have your heart rate monitored for six hours after the first dose because your heartbeat may be slowed. Other side effects include headache, high blood pressure and blurred vision. - Teriflunomide (Aubagio). This once-daily medication can reduce relapse rate. Teriflunomide can cause liver damage, hair loss and other side effects. It is harmful to a developing fetus and should not be used by women who may become pregnant and are not using appropriate contraception, or their male partner. - Natalizumab (Tysabri). This medication is designed to block the movement of potentially damaging immune cells from your bloodstream to your brain and spinal cord. It may be considered a first line treatment for some people with severe MS or as a second line treatment in others. This medication increases the risk of a viral infection of the brain called progressive multifocal leukoencephalopathy in some people. - Alemtuzumab (Lemtrada). This drug helps reduce relapses of MS by targeting a protein on the surface of immune cells and depleting white blood cells. This effect can limit potential nerve damage caused by the white blood cells, but it also increases the risk of infections and autoimmune disorders. Treatment with alemtuzumab involves five consecutive days of drug infusions followed by another three days of infusions a year later. Infusion reactions are common with alemtuzumab. The drug is only available from registered providers, and people treated with the drug must be registered in a special drug safety monitoring program. - Mitoxantrone. This immunosuppressant drug can be harmful to the heart and is associated with development of blood cancers. As a result, its use in treating MS is extremely limited. Mitoxantrone is usually used only to treat severe, advanced MS. Treatments for MS signs and symptoms - Physical therapy. A physical or occupational therapist can teach you stretching and strengthening exercises and show you how to use devices to make it easier to perform daily tasks. Physical therapy along with the use of a mobility aid when necessary can also help manage leg weakness and other gait problems often associated with MS. - Muscle relaxants. You may experience painful or uncontrollable muscle stiffness or spasms, particularly in your legs. Muscle relaxants such as baclofen (Lioresal) and tizanidine (Zanaflex) may help. - Medications to reduce fatigue. - Other medications. Medications also may be prescribed for depression, pain, sexual dysfunction, and bladder or bowel control problems that are associated with MS. Lifestyle and home remedies To help relieve the signs and symptoms of MS, try to: - Get plenty of rest. - Exercise. If you have mild to moderate MS, regular exercise can help improve your strength, muscle tone, balance and coordination. Swimming or other water exercises are good options if you're bothered by heat. Other types of mild to moderate exercise recommended for people with MS include walking, stretching, low-impact aerobics, stationary bicycling, yoga and tai chi. - Cool down. MS symptoms often worsen when your body temperature rises. Avoiding exposure to heat and using devices such as cooling scarves or vests can be helpful. - Eat a balanced diet. Results of small studies suggest that a diet low in saturated fat but high in omega-3 fatty acids, such as those found in olive and fish oils, may be beneficial. But further research is needed. Studies also suggest that vitamin D may have potential benefit for people with MS. - Relieve stress. Stress may trigger or worsen your signs and symptoms. Yoga, tai chi, massage, meditation or deep breathing may help. Alternative medicine Many people with MS use a variety of alternative or complementary treatments or both to help manage their symptoms, such as fatigue and muscle pain. Activities such as exercise, meditation, yoga, massage, eating a healthier diet, acupuncture and relaxation techniques may help boost overall mental and physical well-being, but there are few studies to back up their use in managing symptoms of MS. Guidelines from the American Academy of Neurology recommend the use of oral cannabis extract for muscle spasticity and pain, but do not recommend cannabis in any other form for other MS symptoms due to a lack of evidence. The guidelines also do not recommend the use of herbal supplements such as Ginkgo biloba and bee venom or magnetic therapy for MS symptoms. Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | {
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Currently there is no cure for MS. Many individuals do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. The FDA has also approved ocrelizumab (brand name Ocrevus) to treat adults with relapsing forms of MS and primary progressive MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. Other FDA approved drugs to treat relapsing forms of MS in adults include teriflunomide and dimethyl fumarate. An immunosuppressant treatment,Novantrone (mitoxantrone), is approved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS. One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians. While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment. | Multiple Sclerosis Definition An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus. Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance. These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations. Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS. Treatment Currently there is no cure for MS. Many individuals do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. The FDA has also approved ocrelizumab (brand name Ocrevus) to treat adults with relapsing forms of MS and primary progressive MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. Other FDA approved drugs to treat relapsing forms of MS in adults include teriflunomide and dimethyl fumarate. An immunosuppressant treatment,Novantrone (mitoxantrone), is approved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS. One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. However, in 2005 the drug’s manufacturer voluntarily suspended marketing of the drug after several reports of significant adverse events. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians. While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used. Prognosis A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment. Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | Research assignment Hi, I am a grade 12 student who is doing a research assignment on neurological disorders. Do you believe that there will ever be a bonafide cure for Multiple Sclerosis? If so, what kind of time frame would put on this cure? | {
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Seven types of standard treatment are used: - Watchful waiting or active surveillance - Surgery - Radiation therapy and radiopharmaceutical therapy - Hormone therapy - Chemotherapy - Biologic therapy - Bisphosphonate therapy - New types of treatment are being tested in clinical trials. - Cryosurgery - High-intensity-focused ultrasound therapy - Proton beam radiation therapy - Treatment to control cancer that is in the prostate and lessen urinary symptoms may include the following: - External radiation therapy. - Internal radiation therapy with radioactive seeds. - Hormone therapy. - Transurethral resection of the prostate (TURP). - | Prostate Cancer Overview The prostate gland makes fluid that forms part of semen. The prostate lies just below the bladder in front of the rectum. It surrounds the urethra (the tube that carries urine and semen through the penis and out of the body). Prostate cancer is the most common cancer in men in the United States, after skin cancer. It is the second leading cause of death from cancer in men. Prostate cancer occurs more often in African-American men than in white men. African-American men with prostate cancer are more likely to die from the disease than white men with prostate cancer. Almost all prostate cancers are adenocarcinomas (cancers that begin in cells that make and release mucus and other fluids). Prostate cancer often has no early symptoms. Advanced prostate cancer can cause men to urinate more often or have a weaker flow of urine, but these symptoms can also be caused by benign prostate conditions. Prostate cancer usually grows very slowly. Most men with prostate cancer are older than 65 years and do not die from the disease. Finding and treating prostate cancer before symptoms occur may not improve health or help you live longer. Talk to your doctor about your risk of prostate cancer and whether you need screening tests. General Information About Prostate Cancer Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Signs of prostate cancer include a weak flow of urine or frequent urination. - Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. The prostate is a gland in the male reproductive system. It lies just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland makes fluid that is part of the semen. Enlarge Anatomy of the male reproductive and urinary systems, showing the prostate, testicles, bladder, and other organs. Prostate cancer is most common in older men. In the U.S., about 1 out of 5 men will be diagnosed with prostate cancer. Signs of prostate cancer include a weak flow of urine or frequent urination. These and other signs and symptoms may be caused by prostate cancer or by other conditions. Check with your doctor if you have any of the following: - Weak or interrupted ("stop-and-go") flow of urine. - Sudden urge to urinate. - Frequent urination (especially at night). - Trouble starting the flow of urine. - Trouble emptying the bladder completely. - Pain or burning while urinating. - Blood in the urine or semen. - A pain in the back, hips, or pelvis that doesn't go away. - Shortness of breath, feeling very tired, fast heartbeat, dizziness, or pale skin caused by anemia. Other conditions may cause the same symptoms. As men age, the prostate may get bigger and block the urethra or bladder. This may cause trouble urinating or sexual problems. The condition is called benign prostatic hyperplasia (BPH), and although it is not cancer, surgery may be needed. The symptoms of benign prostatic hyperplasia or of other problems in the prostate may be like symptoms of prostate cancer. Enlarge Normal prostate and benign prostatic hyperplasia (BPH). A normal prostate does not block the flow of urine from the bladder. An enlarged prostate presses on the bladder and urethra and blocks the flow of urine. Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Digital rectal exam (DRE): An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the rectum and feels the prostate through the rectal wall for lumps or abnormal areas. Enlarge Digital rectal exam (DRE). The doctor inserts a gloved, lubricated finger into the rectum and feels the prostate to check for anything abnormal. - Prostate-specific antigen (PSA) test : A test that measures the level of PSA in the blood. PSA is a substance made by the prostate that may be found in an increased amount in the blood of men who have prostate cancer. PSA levels may also be high in men who have an infection or inflammation of the prostate or BPH (an enlarged, but noncancerous, prostate). - Transrectal ultrasound : A procedure in which a probe that is about the size of a finger is inserted into the rectum to check the prostate. The probe is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. Transrectal ultrasound may be used during a biopsy procedure. Enlarge Transrectal ultrasound. An ultrasound probe is inserted into the rectum to check the prostate. The probe bounces sound waves off body tissues to make echoes that form a sonogram (computer picture) of the prostate. - Transrectal magnetic resonance imaging (MRI): A procedure that uses a strong magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A probe that gives off radio waves is inserted into the rectum near the prostate. This helps the MRI machine make clearer pictures of the prostate and nearby tissue. A transrectal MRI is done to find out if the cancer has spread outside the prostate into nearby tissues. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy: The removal of cells or tissues so they can be viewed under a microscope by a pathologist. The pathologist will check the tissue sample to see if there are cancer cells and find out the Gleason score. The Gleason score ranges from 2-10 and describes how likely it is that a tumor will spread. The lower the number, the less likely the tumor is to spread. A transrectal biopsy is used to diagnose prostate cancer. A transrectal biopsy is the removal of tissue from the prostate by inserting a thin needle through the rectum and into the prostate. This procedure is usually done using transrectal ultrasound to help guide where samples of tissue are taken from. A pathologist views the tissue under a microscope to look for cancer cells. Enlarge Transrectal biopsy. An ultrasound probe is inserted into the rectum to show where the tumor is. Then a needle is inserted through the rectum into the prostate to remove tissue from the prostate. Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (level of PSA, Gleason score, grade of the tumor, how much of the prostate is affected by the cancer, and whether the cancer has spread to other places in the body). - The patient's age. - Whether the cancer has just been diagnosed or has recurred (come back). Treatment options also may depend on the following: - Whether the patient has other health problems. - The expected side effects of treatment. - Past treatment for prostate cancer. - The wishes of the patient. Most men diagnosed with prostate cancer do not die of it. Stages of Prostate Cancer Key Points - After prostate cancer has been diagnosed, tests are done to find out if cancer cells have spread within the prostate or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for prostate cancer: - Stage I - Stage II - Stage III - Stage IV After prostate cancer has been diagnosed, tests are done to find out if cancer cells have spread within the prostate or to other parts of the body. The process used to find out if cancer has spread within the prostate or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose prostate cancer are often also used to stage the disease. (See the General Information section.) In prostate cancer, staging tests may not be done unless the patient has symptoms or signs that the cancer has spread, such as bone pain, a high PSA level, or a high Gleason score. The following tests and procedures also may be used in the staging process: - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. Enlarge Bone scan. A small amount of radioactive material is injected into the patient's bloodstream and collects in abnormal cells in the bones. As the patient lies on a table that slides under the scanner, the radioactive material is detected and images are made on a computer screen or film. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Pelvic lymphadenectomy : A surgical procedure to remove the lymph nodes in the pelvis. A pathologist views the tissue under a microscope to look for cancer cells. - Seminal vesicle biopsy : The removal of fluid from the seminal vesicles (glands that make semen) using a needle. A pathologist views the fluid under a microscope to look for cancer cells. - ProstaScint scan : A procedure to check for cancer that has spread from the prostate to other parts of the body, such as the lymph nodes. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material attaches to prostate cancer cells and is detected by a scanner. The radioactive material shows up as a bright spot on the picture in areas where there are a lot of prostate cancer cells. The stage of the cancer is based on the results of the staging and diagnostic tests, including the prostate-specific antigen (PSA) test and the Gleason score. The tissue samples removed during the biopsy are used to find out the Gleason score. The Gleason score ranges from 2-10 and describes how different the cancer cells look from normal cells and how likely it is that the tumor will spread. The lower the number, the less likely the tumor is to spread. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if prostate cancer spreads to the bone, the cancer cells in the bone are actually prostate cancer cells. The disease is metastatic prostate cancer, not bone cancer. Denosumab, a monoclonal antibody, may be used to prevent bone metastases. The following stages are used for prostate cancer: Enlarge As prostate cancer progresses from Stage I to Stage IV, the cancer cells grow within the prostate, through the outer layer of the prostate into nearby tissue, and then to lymph nodes or other parts of the body. Stage I In stage I, cancer is found in the prostate only. The cancer: - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is lower than 10 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is lower than 10 and the Gleason score is 6 or lower; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. Cancer is found in one-half or less of one lobe of the prostate. The PSA level and the Gleason score are not known. Stage II In stage II, cancer is more advanced than in stage I, but has not spread outside the prostate. Stage II is divided into stages IIA and IIB. In stage IIA, cancer: - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is lower than 20 and the Gleason score is 7; or - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is at least 10 but lower than 20 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is at least 10 but lower than 20 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is lower than 20 and the Gleason score is 7; or - is found in more than one-half of one lobe of the prostate. In stage IIB, cancer: - is found in opposite sides of the prostate. The PSA can be any level and the Gleason score can range from 2 to 10; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. The PSA level is 20 or higher and the Gleason score can range from 2 to 10; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. The PSA can be any level and the Gleason score is 8 or higher. Stage III In stage III, cancer has spread beyond the outer layer of the prostate and may have spread to the seminal vesicles. The PSA can be any level and the Gleason score can range from 2 to 10. Stage IV In stage IV, the PSA can be any level and the Gleason score can range from 2 to 10. Also, cancer: - has spread beyond the seminal vesicles to nearby tissue or organs, such as the rectum, bladder, or pelvic wall; or - may have spread to the seminal vesicles or to nearby tissue or organs, such as the rectum, bladder, or pelvic wall. Cancer has spread to nearby lymph nodes; or - has spread to distant parts of the body, which may include lymph nodes or bones. Prostate cancer often spreads to the bones. Stage I In stage I, cancer is found in the prostate only. The cancer: - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is lower than 10 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is lower than 10 and the Gleason score is 6 or lower; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. Cancer is found in one-half or less of one lobe of the prostate. The PSA level and the Gleason score are not known. Stage II In stage II, cancer is more advanced than in stage I, but has not spread outside the prostate. Stage II is divided into stages IIA and IIB. In stage IIA, cancer: - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is lower than 20 and the Gleason score is 7; or - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is at least 10 but lower than 20 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is at least 10 but lower than 20 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is lower than 20 and the Gleason score is 7; or - is found in more than one-half of one lobe of the prostate. In stage IIB, cancer: - is found in opposite sides of the prostate. The PSA can be any level and the Gleason score can range from 2 to 10; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. The PSA level is 20 or higher and the Gleason score can range from 2 to 10; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. The PSA can be any level and the Gleason score is 8 or higher. Stage III In stage III, cancer has spread beyond the outer layer of the prostate and may have spread to the seminal vesicles. The PSA can be any level and the Gleason score can range from 2 to 10. Stage IV In stage IV, the PSA can be any level and the Gleason score can range from 2 to 10. Also, cancer: - has spread beyond the seminal vesicles to nearby tissue or organs, such as the rectum, bladder, or pelvic wall; or - may have spread to the seminal vesicles or to nearby tissue or organs, such as the rectum, bladder, or pelvic wall. Cancer has spread to nearby lymph nodes; or - has spread to distant parts of the body, which may include lymph nodes or bones. Prostate cancer often spreads to the bones. Recurrent Prostate Cancer Treatment Option Overview Key Points - There are different types of treatment for patients with prostate cancer. - Seven types of standard treatment are used: - Watchful waiting or active surveillance - Surgery - Radiation therapy and radiopharmaceutical therapy - Hormone therapy - Chemotherapy - Biologic therapy - Bisphosphonate therapy - There are treatments for bone pain caused by bone metastases or hormone therapy. - New types of treatment are being tested in clinical trials. - Cryosurgery - High-intensity-focused ultrasound therapy - Proton beam radiation therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. There are different types of treatment for patients with prostate cancer. Different types of treatment are available for patients with prostate cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. Seven types of standard treatment are used: Watchful waiting or active surveillance Watchful waiting and active surveillance are treatments used for older men who do not have signs or symptoms or have other medical conditions and for men whose prostate cancer is found during a screening test. Watchful waiting is closely monitoring a patient's condition without giving any treatment until signs or symptoms appear or change. Treatment is given to relieve symptoms and improve quality of life. Active surveillance is closely following a patient's condition without giving any treatment unless there are changes in test results. It is used to find early signs that the condition is getting worse. In active surveillance, patients are given certain exams and tests, including digital rectal exam, PSA test, transrectal ultrasound, and transrectal needle biopsy, to check if the cancer is growing. When the cancer begins to grow, treatment is given to cure the cancer. Other terms that are used to describe not giving treatment to cure prostate cancer right after diagnosis are observation, watch and wait, and expectant management. Surgery Patients in good health whose tumor is in the prostate gland only may be treated with surgery to remove the tumor. The following types of surgery are used: - Radical prostatectomy: A surgical procedure to remove the prostate, surrounding tissue, and seminal vesicles. There are two types of radical prostatectomy: - Retropubic prostatectomy: A surgical procedure to remove the prostate through an incision (cut) in the abdominal wall. Removal of nearby lymph nodes may be done at the same time. - Perineal prostatectomy: A surgical procedure to remove the prostate through an incision (cut) made in the perineum (area between the scrotum and anus). Nearby lymph nodes may also be removed through a separate incision in the abdomen. Enlarge Two types of radical prostatectomy. In a retropubic prostatectomy, the prostate is removed through an incision in the wall of the abdomen. In a perineal prostatectomy, the prostate is removed through an incision in the area between the scrotum and the anus. - Pelvic lymphadenectomy: A surgical procedure to remove the lymph nodes in the pelvis. A pathologist views the tissue under a microscope to look for cancer cells. If the lymph nodes contain cancer, the doctor will not remove the prostate and may recommend other treatment. - Transurethral resection of the prostate (TURP): A surgical procedure to remove tissue from the prostate using a resectoscope (a thin, lighted tube with a cutting tool) inserted through the urethra. This procedure is done to treat benign prostatic hypertrophy and it is sometimes done to relieve symptoms caused by a tumor before other cancer treatment is given. TURP may also be done in men whose tumor is in the prostate only and who cannot have a radical prostatectomy. Enlarge Transurethral resection of the prostate (TURP). Tissue is removed from the prostate using a resectoscope (a thin, lighted tube with a cutting tool at the end) inserted through the urethra. Prostate tissue that is blocking the urethra is cut away and removed through the resectoscope. In some cases, nerve-sparing surgery can be done. This type of surgery may save the nerves that control erection. However, men with large tumors or tumors that are very close to the nerves may not be able to have this surgery. Possible problems after prostate cancer surgery include the following: - Impotence. - Leakage of urine from the bladder or stool from the rectum. - Shortening of the penis (1 to 2 centimeters). The exact reason for this is not known. - Inguinal hernia (bulging of fat or part of the small intestine through weak muscles into the groin). Inguinal hernia may occur more often in men treated with radical prostatectomy than in men who have some other types of prostate surgery, radiation therapy, or prostate biopsy alone. It is most likely to occur within the first 2 years after radical prostatectomy. Radiation therapy and radiopharmaceutical therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are different types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Conformal radiation is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. This allows a high dose of radiation to reach the tumor and causes less damage to nearby healthy tissue. Hypofractionated radiation therapy may be given because it has a more convenient treatment schedule. Hypofractionated radiation therapy is radiation treatment in which a larger than usual total dose of radiation is given once a day over a shorter period of time (fewer days) compared to standard radiation therapy. Hypofractionated radiation therapy may have worse side effects than standard radiation therapy, depending on the schedules used. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. In early-stage prostate cancer, the radioactive seeds are placed in the prostate using needles that are inserted through the skin between the scrotum and rectum. The placement of the radioactive seeds in the prostate is guided by images from transrectal ultrasound or computed tomography (CT). The needles are removed after the radioactive seeds are placed in the prostate. - Radiopharmaceutical therapy uses a radioactive substance to treat cancer. Radiopharmaceutical therapy includes the following: - Alpha emitter radiation therapy uses a radioactive substance to treat prostate cancer that has spread to the bone. A radioactive substance called radium-223 is injected into a vein and travels through the bloodstream. The radium-223 collects in areas of bone with cancer and kills the cancer cells. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy, internal radiation therapy, and radiopharmaceutical therapy are used to treat prostate cancer. Men treated with radiation therapy for prostate cancer have an increased risk of having bladder and/or gastrointestinal cancer. Radiation therapy can cause impotence and urinary problems that may get worse with age. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. In prostate cancer, male sex hormones can cause prostate cancer to grow. Drugs, surgery, or other hormones are used to reduce the amount of male hormones or block them from working. Hormone therapy for prostate cancer may include the following: - Abiraterone acetate can prevent prostate cancer cells from making androgens. It is used in men with advanced prostate cancer that has not gotten better with other hormone therapy. - Orchiectomy is a surgical procedure to remove one or both testicles, the main source of male hormones, such as testosterone, to decrease the amount of hormone being made. - Estrogens (hormones that promote female sex characteristics) can prevent the testicles from making testosterone. However, estrogens are seldom used today in the treatment of prostate cancer because of the risk of serious side effects. - Luteinizing hormone-releasing hormone agonists can stop the testicles from making testosterone. Examples are leuprolide, goserelin, and buserelin. - Antiandrogens can block the action of androgens (hormones that promote male sex characteristics), such as testosterone. Examples are flutamide, bicalutamide, enzalutamide, and nilutamide. - Drugs that can prevent the adrenal glands from making androgens include ketoconazole and aminoglutethimide. Hot flashes, impaired sexual function, loss of desire for sex, and weakened bones may occur in men treated with hormone therapy. Other side effects include diarrhea, nausea, and itching. See Drugs Approved for Prostate Cancer for more information. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Prostate Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. Sipuleucel-T is a type of biologic therapy used to treat prostate cancer that has metastasized (spread to other parts of the body). See Drugs Approved for Prostate Cancer for more information. Bisphosphonate therapy Bisphosphonate drugs, such as clodronate or zoledronate, reduce bone disease when cancer has spread to the bone. Men who are treated with antiandrogen therapy or orchiectomy are at an increased risk of bone loss. In these men, bisphosphonate drugs lessen the risk of bone fracture (breaks). The use of bisphosphonate drugs to prevent or slow the growth of bone metastases is being studied in clinical trials. Watchful waiting or active surveillance Watchful waiting and active surveillance are treatments used for older men who do not have signs or symptoms or have other medical conditions and for men whose prostate cancer is found during a screening test. Watchful waiting is closely monitoring a patient's condition without giving any treatment until signs or symptoms appear or change. Treatment is given to relieve symptoms and improve quality of life. Active surveillance is closely following a patient's condition without giving any treatment unless there are changes in test results. It is used to find early signs that the condition is getting worse. In active surveillance, patients are given certain exams and tests, including digital rectal exam, PSA test, transrectal ultrasound, and transrectal needle biopsy, to check if the cancer is growing. When the cancer begins to grow, treatment is given to cure the cancer. Other terms that are used to describe not giving treatment to cure prostate cancer right after diagnosis are observation, watch and wait, and expectant management. Surgery Patients in good health whose tumor is in the prostate gland only may be treated with surgery to remove the tumor. The following types of surgery are used: - Radical prostatectomy: A surgical procedure to remove the prostate, surrounding tissue, and seminal vesicles. There are two types of radical prostatectomy: - Retropubic prostatectomy: A surgical procedure to remove the prostate through an incision (cut) in the abdominal wall. Removal of nearby lymph nodes may be done at the same time. - Perineal prostatectomy: A surgical procedure to remove the prostate through an incision (cut) made in the perineum (area between the scrotum and anus). Nearby lymph nodes may also be removed through a separate incision in the abdomen. Enlarge Two types of radical prostatectomy. In a retropubic prostatectomy, the prostate is removed through an incision in the wall of the abdomen. In a perineal prostatectomy, the prostate is removed through an incision in the area between the scrotum and the anus. - Pelvic lymphadenectomy: A surgical procedure to remove the lymph nodes in the pelvis. A pathologist views the tissue under a microscope to look for cancer cells. If the lymph nodes contain cancer, the doctor will not remove the prostate and may recommend other treatment. - Transurethral resection of the prostate (TURP): A surgical procedure to remove tissue from the prostate using a resectoscope (a thin, lighted tube with a cutting tool) inserted through the urethra. This procedure is done to treat benign prostatic hypertrophy and it is sometimes done to relieve symptoms caused by a tumor before other cancer treatment is given. TURP may also be done in men whose tumor is in the prostate only and who cannot have a radical prostatectomy. Enlarge Transurethral resection of the prostate (TURP). Tissue is removed from the prostate using a resectoscope (a thin, lighted tube with a cutting tool at the end) inserted through the urethra. Prostate tissue that is blocking the urethra is cut away and removed through the resectoscope. In some cases, nerve-sparing surgery can be done. This type of surgery may save the nerves that control erection. However, men with large tumors or tumors that are very close to the nerves may not be able to have this surgery. Possible problems after prostate cancer surgery include the following: - Impotence. - Leakage of urine from the bladder or stool from the rectum. - Shortening of the penis (1 to 2 centimeters). The exact reason for this is not known. - Inguinal hernia (bulging of fat or part of the small intestine through weak muscles into the groin). Inguinal hernia may occur more often in men treated with radical prostatectomy than in men who have some other types of prostate surgery, radiation therapy, or prostate biopsy alone. It is most likely to occur within the first 2 years after radical prostatectomy. Radiation therapy and radiopharmaceutical therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are different types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Conformal radiation is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. This allows a high dose of radiation to reach the tumor and causes less damage to nearby healthy tissue. Hypofractionated radiation therapy may be given because it has a more convenient treatment schedule. Hypofractionated radiation therapy is radiation treatment in which a larger than usual total dose of radiation is given once a day over a shorter period of time (fewer days) compared to standard radiation therapy. Hypofractionated radiation therapy may have worse side effects than standard radiation therapy, depending on the schedules used. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. In early-stage prostate cancer, the radioactive seeds are placed in the prostate using needles that are inserted through the skin between the scrotum and rectum. The placement of the radioactive seeds in the prostate is guided by images from transrectal ultrasound or computed tomography (CT). The needles are removed after the radioactive seeds are placed in the prostate. - Radiopharmaceutical therapy uses a radioactive substance to treat cancer. Radiopharmaceutical therapy includes the following: - Alpha emitter radiation therapy uses a radioactive substance to treat prostate cancer that has spread to the bone. A radioactive substance called radium-223 is injected into a vein and travels through the bloodstream. The radium-223 collects in areas of bone with cancer and kills the cancer cells. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy, internal radiation therapy, and radiopharmaceutical therapy are used to treat prostate cancer. Men treated with radiation therapy for prostate cancer have an increased risk of having bladder and/or gastrointestinal cancer. Radiation therapy can cause impotence and urinary problems that may get worse with age. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. In prostate cancer, male sex hormones can cause prostate cancer to grow. Drugs, surgery, or other hormones are used to reduce the amount of male hormones or block them from working. Hormone therapy for prostate cancer may include the following: - Abiraterone acetate can prevent prostate cancer cells from making androgens. It is used in men with advanced prostate cancer that has not gotten better with other hormone therapy. - Orchiectomy is a surgical procedure to remove one or both testicles, the main source of male hormones, such as testosterone, to decrease the amount of hormone being made. - Estrogens (hormones that promote female sex characteristics) can prevent the testicles from making testosterone. However, estrogens are seldom used today in the treatment of prostate cancer because of the risk of serious side effects. - Luteinizing hormone-releasing hormone agonists can stop the testicles from making testosterone. Examples are leuprolide, goserelin, and buserelin. - Antiandrogens can block the action of androgens (hormones that promote male sex characteristics), such as testosterone. Examples are flutamide, bicalutamide, enzalutamide, and nilutamide. - Drugs that can prevent the adrenal glands from making androgens include ketoconazole and aminoglutethimide. Hot flashes, impaired sexual function, loss of desire for sex, and weakened bones may occur in men treated with hormone therapy. Other side effects include diarrhea, nausea, and itching. See Drugs Approved for Prostate Cancer for more information. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Prostate Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. Sipuleucel-T is a type of biologic therapy used to treat prostate cancer that has metastasized (spread to other parts of the body). See Drugs Approved for Prostate Cancer for more information. Bisphosphonate therapy Bisphosphonate drugs, such as clodronate or zoledronate, reduce bone disease when cancer has spread to the bone. Men who are treated with antiandrogen therapy or orchiectomy are at an increased risk of bone loss. In these men, bisphosphonate drugs lessen the risk of bone fracture (breaks). The use of bisphosphonate drugs to prevent or slow the growth of bone metastases is being studied in clinical trials. There are treatments for bone pain caused by bone metastases or hormone therapy. Prostate cancer that has spread to the bone and certain types of hormone therapy can weaken bones and lead to bone pain. Treatments for bone pain include the following: - Pain medicine. - External radiation therapy. - Strontium-89 (a radioisotope). - Targeted therapy with a monoclonal antibody, such as denosumab. - Bisphosphonate therapy. - Corticosteroids. See the PDQ summary on Pain for more information. New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Cryosurgery Cryosurgery is a treatment that uses an instrument to freeze and destroy prostate cancer cells. Ultrasound is used to find the area that will be treated. This type of treatment is also called cryotherapy. Cryosurgery can cause impotence and leakage of urine from the bladder or stool from the rectum. High-intensity-focused ultrasound therapy High-intensity-focused ultrasound therapy is a treatment that uses ultrasound (high-energy sound waves) to destroy cancer cells. To treat prostate cancer, an endorectal probe is used to make the sound waves. Proton beam radiation therapy Proton beam radiation therapy is a type of high-energy, external radiation therapy that targets tumors with streams of protons (small, positively charged particles). This type of radiation therapy is being studied in the treatment of prostate cancer. Cryosurgery Cryosurgery is a treatment that uses an instrument to freeze and destroy prostate cancer cells. Ultrasound is used to find the area that will be treated. This type of treatment is also called cryotherapy. Cryosurgery can cause impotence and leakage of urine from the bladder or stool from the rectum. High-intensity-focused ultrasound therapy High-intensity-focused ultrasound therapy is a treatment that uses ultrasound (high-energy sound waves) to destroy cancer cells. To treat prostate cancer, an endorectal probe is used to make the sound waves. Proton beam radiation therapy Proton beam radiation therapy is a type of high-energy, external radiation therapy that targets tumors with streams of protons (small, positively charged particles). This type of radiation therapy is being studied in the treatment of prostate cancer. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. Information about clinical trials supported by NCI can be found on NCI's clinical trials search webpage. Clinical trials supported by other organizations can be found on the ClinicalTrials.gov website. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Treatment Options by Stage Stage I Prostate Cancer Standard treatment of stage I prostate cancer may include the following: - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. - Radical prostatectomy, usually with pelvic lymphadenectomy. Radiation therapy may be given after surgery. - External radiation therapy. Hormone therapy may be given after radiation therapy. - Internal radiation therapy with radioactive seeds. - A clinical trial of high-intensity-focused ultrasound therapy. - A clinical trial of cryosurgery. Use our clinical trial search to find NCI-supported cancer clinical trials that are accepting patients. You can search for trials based on the type of cancer, the age of the patient, and where the trials are being done. General information about clinical trials is also available. Stage II Prostate Cancer Standard treatment of stage II prostate cancer may include the following: - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. - Radical prostatectomy, usually with pelvic lymphadenectomy. Radiation therapy may be given after surgery. - External radiation therapy. Hormone therapy may be given after radiation therapy. - Internal radiation therapy with radioactive seeds. - A clinical trial of cryosurgery. - A clinical trial of high-intensity-focused ultrasound therapy. - A clinical trial of proton beam radiation therapy. - Clinical trials of new types of treatment, such as hormone therapy followed by radical prostatectomy. Use our clinical trial search to find NCI-supported cancer clinical trials that are accepting patients. You can search for trials based on the type of cancer, the age of the patient, and where the trials are being done. General information about clinical trials is also available. Stage III Prostate Cancer Standard treatment of stage III prostate cancer may include the following: - External radiation therapy. Hormone therapy may be given after radiation therapy. - Hormone therapy. Radiation therapy may be given after hormone therapy. - Radical prostatectomy. Radiation therapy may be given after surgery. - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. Treatment to control cancer that is in the prostate and lessen urinary symptoms may include the following: - External radiation therapy. - Internal radiation therapy with radioactive seeds. - Hormone therapy. - Transurethral resection of the prostate (TURP). - A clinical trial of new types of radiation therapy. - A clinical trial of cryosurgery. Use our clinical trial search to find NCI-supported cancer clinical trials that are accepting patients. You can search for trials based on the type of cancer, the age of the patient, and where the trials are being done. General information about clinical trials is also available. Stage IV Prostate Cancer Standard treatment of stage IV prostate cancer may include the following: - Hormone therapy. - Hormone therapy combined with chemotherapy. - Bisphosphonate therapy. - External radiation therapy. Hormone therapy may be given after radiation therapy. - Alpha emitter radiation therapy. - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. - A clinical trial of radical prostatectomy with orchiectomy. Treatment to control cancer that is in the prostate and lessen urinary symptoms may include the following: - Transurethral resection of the prostate (TURP). - Radiation therapy. Use our clinical trial search to find NCI-supported cancer clinical trials that are accepting patients. You can search for trials based on the type of cancer, the age of the patient, and where the trials are being done. General information about clinical trials is also available. Treatment Options for Recurrent Prostate Cancer prostate cancer using seeds aimed at maligmem tumors is this a safe decision | prostate cancer using seeds aimed at maligmem tumors is this a safe decision | {
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Brachytherapy is often used for small prostate cancers that are found early and are slow-growing. Brachytherapy may be combined with external beam radiation therapy for more advanced cancers. Brachytherapy involves placing radioactive seeds inside the prostate gland. - A surgeon inserts small needles through the skin beneath your scrotum to inject the seeds. The seeds are so small that you do not feel them. - The seeds are left in place permanently. Side effects may include: - Pain, swelling, or bruising in the penis or scrotum - Red-brown urine or semen - Impotence - Incontinence - Urinary retention - Diarrhea | Prostate cancer treatment Summary Treatment for your prostate cancer is chosen after a thorough evaluation. Your health care provider will discuss the benefits and risks of each treatment. Sometimes your provider may recommend one treatment for you because of your type of cancer and risk factors. Other times, there may be two or more treatments that could be good for you. Factors you and your provider must think about include: Your age and other medical problems you may have Side effects that occur with each type of treatment How much the prostate cancer has spread Your Gleason score, which tells how likely it is that cancer has already spread Your prostate-specific antigen (PSA) test result Ask your provider to explain these things following about your treatment choices: Which choices offer the best chance of curing your cancer or controlling its spread? How likely is it that you will have different side effects, and how they will affect your life? Radical Prostatectomy (Prostate Removal) Radical prostatectomy is a surgery to remove the prostate and some of the surrounding tissue. It is an option when the cancer has not spread beyond the prostate gland. Healthy men who will likely live 10 or more years after being diagnosed with prostate cancer often have this procedure. Be aware that it is not always possible to know for certain, before surgery, if the cancer has spread beyond the prostate gland. Possible problems after surgery include difficulty controlling urine and erection problems. Also, some men need further treatments after this surgery. Radiation Therapy Radiation therapy works best for treating prostate cancer that has not spread outside of the prostate. It may also be used after surgery if there is a risk that cancer cells are still present. Radiation is sometimes used for pain relief when cancer has spread to the bone. External beam radiation therapy uses high-powered x-rays pointed at the prostate gland: Before treatment, the radiation therapist uses a special pen to mark the part of the body that is to be treated. Radiation is delivered to the prostate gland using a machine similar to a regular x-ray machine. The treatment itself is usually painless. Treatment is done in a radiation oncology center that is usually connected to a hospital. Treatment is usually done 5 days a week for 6 to 8 weeks. Side effects may include: Appetite loss Diarrhea Erection problems Fatigue Rectal burning or injury Skin reactions Urinary incontinence, the feeling of needing to urinate urgently, or blood in the urine There are reports of secondary cancers arising from the radiation as well. Proton therapy is another kind of radiation therapy used to treat prostate cancer. Proton beams target the tumor precisely, so there is less damage to the surrounding tissue. This therapy is not widely accepted or used. Prostate Brachytherapy Brachytherapy is often used for small prostate cancers that are found early and are slow-growing. Brachytherapy may be combined with external beam radiation therapy for more advanced cancers. Brachytherapy involves placing radioactive seeds inside the prostate gland. A surgeon inserts small needles through the skin beneath your scrotum to inject the seeds. The seeds are so small that you do not feel them. The seeds are left in place permanently. Side effects may include: Pain, swelling, or bruising in the penis or scrotum Red-brown urine or semen Impotence Incontinence Urinary retention Diarrhea Hormonal Therapy Testosterone is the main male hormone. Prostate tumors need testosterone to grow. Hormonal therapy is treatment that decreases the effect of testosterone on prostate cancer. Hormone therapy is mainly used for cancer that has spread beyond the prostate. The treatment can help relieve symptoms and prevent further growth and spread of cancer. But it does not cure the cancer. The main type of hormone therapy is called a luteinizing hormone-releasing hormones (LH-RH) agonist: The medicine blocks the testicles from making testosterone. The drugs must be given by injection, usually every 3 to 6 months. Possible side effects include nausea and vomiting, hot flashes, anemia, fatigue, thinning bones (osteoporosis), reduced sexual desire, decreased muscle mass, weight gain, and impotence. The other type of hormone medicine is called an androgen-blocking drug: It is often given along with LH-RH drugs to block the effect of testosterone produced by the adrenal glands, which make a small amount of testosterone. Possible side effects include erection problems, reduced sexual desire, liver problems, diarrhea, and enlarged breasts. Much of the body's testosterone is made by the testes. As a result, surgery to remove the testes (called orchiectomy) can also be used as a hormonal treatment. Chemotherapy Chemotherapy and immunotherapy (medicine that helps the body's immune system fight the cancer) may be used to treat prostate cancer that no longer responds to hormone treatment. Usually a single drug or a combination of drugs is recommended. Cryotherapy Cryotherapy uses very cold temperatures to freeze and kill prostate cancer cells. The goal of cryosurgery is to destroy the entire prostate gland and possibly surrounding tissue. Cryosurgery is generally not used as a first treatment for prostate cancer. Review Date 10/10/2017 Updated by: Jennifer Sobol, DO, Urologist with the Michigan Institute of Urology, West Bloomfield, MI. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. prostate cancer using seeds aimed at maligmem tumors is this a safe decision | prostate cancer using seeds aimed at maligmem tumors is this a safe decision | {
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The measles-mumps-rubella (MMR) vaccine, usually given to children in the United States twice before they reach school age, is highly effective in preventing rubella. Rubella is a mild infection. Once you've had the disease, you're usually permanently immune. In rare cases, rubella can cause an ear infection (otitis media) or inflammation of the brain (encephalitis). No treatment will shorten the course of rubella infection, and symptoms are so mild that treatment usually isn't necessary. However, doctors often recommend isolation from others - especially pregnant women - during the infectious period. In rare instances when a child or adult is infected with rubella, simple self-care measures are required: - Rest in bed as necessary. - Take acetaminophen (Tylenol, others) to relieve discomfort from fever and aches. - Tell your child's school or child care provider that your child has rubella. | Rubella Overview Rubella, also called German measles or three-day measles, is a contagious viral infection best known by its distinctive red rash. Rubella is not the same as measles (rubeola), though the two illnesses do share some characteristics, including the red rash. However, rubella is caused by a different virus than measles, and is neither as infectious nor usually as severe as measles. The measles-mumps-rubella (MMR) vaccine, usually given to children in the United States twice before they reach school age, is highly effective in preventing rubella. Because of widespread use of the vaccine, the Centers for Disease Control and Prevention (CDC) has declared rubella eliminated in the United States, but cautions parents to make sure their children are vaccinated to prevent its reemergence. Symptoms The signs and symptoms of rubella are often so mild they're difficult to notice, especially in children. If signs and symptoms do occur, they generally appear between two and three weeks after exposure to the virus. They typically last about two to three days and may include: - Mild fever of 102 F (38.9 C) or lower - Headache - Stuffy or runny nose - Inflamed, red eyes - Enlarged, tender lymph nodes at the base of the skull, the back of the neck and behind the ears - A fine, pink rash that begins on the face and quickly spreads to the trunk and then the arms and legs, before disappearing in the same sequence - Aching joints, especially in young women When to see a doctor Contact your doctor if you think you or your child may have been exposed to rubella or if you have the signs or symptoms listed above. If you're contemplating getting pregnant, check your vaccination record to make sure you've received your MMR inoculations. If a pregnant woman contracts rubella, especially during her first trimester, the virus can cause death or serious birth defects in her developing fetus. Rubella during pregnancy is the most common cause of congenital deafness. It's best for women to be protected against rubella before pregnancy. If you're pregnant, you'll likely undergo a routine screening for immunity to rubella. But if you've never received the vaccine and think you might have been exposed to rubella, contact your doctor immediately. A blood test might confirm that you're already immune. Causes The cause of rubella is a virus that's passed from person to person. It can spread when an infected person coughs or sneezes, or it can spread by direct contact with an infected person's respiratory secretions, such as mucus. It can also be transmitted from a pregnant woman to her unborn child via the bloodstream. A person with rubella is contagious from 10 days before the onset of the rash until about one or two weeks after the rash disappears. An infected person can spread the illness before the person realizes he or she has it. Rubella is rare in the United States because most children receive a vaccination against the infection at an early age. However, cases of rubella do occur, mostly in unvaccinated foreign-born adults. The disease is still common in many parts of the world. The prevalence of rubella in other countries is something to consider before going abroad, especially if you're pregnant. Complications Rubella is a mild infection. Once you've had the disease, you're usually permanently immune. Some women with rubella experience arthritis in the fingers, wrists and knees, which generally lasts for about one month. In rare cases, rubella can cause an ear infection (otitis media) or inflammation of the brain (encephalitis). However, if you're pregnant when you contract rubella, the consequences for your unborn child may be severe. Up to 90 percent of infants born to mothers who had rubella during the first 12 weeks of pregnancy develop congenital rubella syndrome. This syndrome can cause one or more problems, including: - Growth retardation - Cataracts - Deafness - Congenital heart defects - Defects in other organs - Mental retardation The highest risk to the fetus is during the first trimester, but exposure later in pregnancy also is dangerous. Diagnosis The rubella rash can look like many other viral rashes. So doctors usually confirm rubella with the help of laboratory tests. You may have a virus culture or a blood test, which can detect the presence of different types of rubella antibodies in your blood. These antibodies indicate whether you've had a recent or past infection or a rubella vaccine. Treatment No treatment will shorten the course of rubella infection, and symptoms are so mild that treatment usually isn't necessary. However, doctors often recommend isolation from others - especially pregnant women - during the infectious period. If you contract rubella while you're pregnant, discuss the risks to your baby with your doctor. If you wish to continue your pregnancy, you may be given antibodies called hyperimmune globulin that can fight off the infection. This can reduce your symptoms, but doesn't eliminate the possibility of your baby developing congenital rubella syndrome. Support of an infant born with congenital rubella syndrome varies depending on the extent of the infant's problems. Children with multiple complications may require early treatment from a team of specialists. Lifestyle and home remedies In rare instances when a child or adult is infected with rubella, simple self-care measures are required: - Rest in bed as necessary. - Take acetaminophen (Tylenol, others) to relieve discomfort from fever and aches. - Tell friends, family and co-workers - especially pregnant women - about your diagnosis if they may have been exposed to the disease. - Avoid people who have conditions that cause deficient or suppressed immune systems. - Tell your child's school or child care provider that your child has rubella. Rubella My grandson (4 yrs old) has contracted Rubella. I know for sure he has had at least one of the vaccines. They are living in Mexico right now. Should we be worried? | Rubella My grandson (4 yrs old) has contracted Rubella. I know for sure he has had at least one of the vaccines. They are living in Mexico right now. Should we be worried? | {
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Rubella is a mild infection. Once you've had the disease, you're usually permanently immune. . In rare cases, rubella can cause an ear infection (otitis media) or inflammation of the brain (encephalitis). | Rubella Overview Rubella, also called German measles or three-day measles, is a contagious viral infection best known by its distinctive red rash. Rubella is not the same as measles (rubeola), though the two illnesses do share some characteristics, including the red rash. However, rubella is caused by a different virus than measles, and is neither as infectious nor usually as severe as measles. The measles-mumps-rubella (MMR) vaccine, usually given to children in the United States twice before they reach school age, is highly effective in preventing rubella. Because of widespread use of the vaccine, the Centers for Disease Control and Prevention (CDC) has declared rubella eliminated in the United States, but cautions parents to make sure their children are vaccinated to prevent its reemergence. Symptoms The signs and symptoms of rubella are often so mild they're difficult to notice, especially in children. If signs and symptoms do occur, they generally appear between two and three weeks after exposure to the virus. They typically last about two to three days and may include: - Mild fever of 102 F (38.9 C) or lower - Headache - Stuffy or runny nose - Inflamed, red eyes - Enlarged, tender lymph nodes at the base of the skull, the back of the neck and behind the ears - A fine, pink rash that begins on the face and quickly spreads to the trunk and then the arms and legs, before disappearing in the same sequence - Aching joints, especially in young women When to see a doctor Contact your doctor if you think you or your child may have been exposed to rubella or if you have the signs or symptoms listed above. If you're contemplating getting pregnant, check your vaccination record to make sure you've received your MMR inoculations. If a pregnant woman contracts rubella, especially during her first trimester, the virus can cause death or serious birth defects in her developing fetus. Rubella during pregnancy is the most common cause of congenital deafness. It's best for women to be protected against rubella before pregnancy. If you're pregnant, you'll likely undergo a routine screening for immunity to rubella. But if you've never received the vaccine and think you might have been exposed to rubella, contact your doctor immediately. A blood test might confirm that you're already immune. Causes The cause of rubella is a virus that's passed from person to person. It can spread when an infected person coughs or sneezes, or it can spread by direct contact with an infected person's respiratory secretions, such as mucus. It can also be transmitted from a pregnant woman to her unborn child via the bloodstream. A person with rubella is contagious from 10 days before the onset of the rash until about one or two weeks after the rash disappears. An infected person can spread the illness before the person realizes he or she has it. Rubella is rare in the United States because most children receive a vaccination against the infection at an early age. However, cases of rubella do occur, mostly in unvaccinated foreign-born adults. The disease is still common in many parts of the world. The prevalence of rubella in other countries is something to consider before going abroad, especially if you're pregnant. Complications Rubella is a mild infection. Once you've had the disease, you're usually permanently immune. Some women with rubella experience arthritis in the fingers, wrists and knees, which generally lasts for about one month. In rare cases, rubella can cause an ear infection (otitis media) or inflammation of the brain (encephalitis). However, if you're pregnant when you contract rubella, the consequences for your unborn child may be severe. Up to 90 percent of infants born to mothers who had rubella during the first 12 weeks of pregnancy develop congenital rubella syndrome. This syndrome can cause one or more problems, including: - Growth retardation - Cataracts - Deafness - Congenital heart defects - Defects in other organs - Mental retardation The highest risk to the fetus is during the first trimester, but exposure later in pregnancy also is dangerous. Diagnosis The rubella rash can look like many other viral rashes. So doctors usually confirm rubella with the help of laboratory tests. You may have a virus culture or a blood test, which can detect the presence of different types of rubella antibodies in your blood. These antibodies indicate whether you've had a recent or past infection or a rubella vaccine. Treatment No treatment will shorten the course of rubella infection, and symptoms are so mild that treatment usually isn't necessary. However, doctors often recommend isolation from others - especially pregnant women - during the infectious period. If you contract rubella while you're pregnant, discuss the risks to your baby with your doctor. If you wish to continue your pregnancy, you may be given antibodies called hyperimmune globulin that can fight off the infection. This can reduce your symptoms, but doesn't eliminate the possibility of your baby developing congenital rubella syndrome. Support of an infant born with congenital rubella syndrome varies depending on the extent of the infant's problems. Children with multiple complications may require early treatment from a team of specialists. Lifestyle and home remedies In rare instances when a child or adult is infected with rubella, simple self-care measures are required: - Rest in bed as necessary. - Take acetaminophen (Tylenol, others) to relieve discomfort from fever and aches. - Tell friends, family and co-workers - especially pregnant women - about your diagnosis if they may have been exposed to the disease. - Avoid people who have conditions that cause deficient or suppressed immune systems. - Tell your child's school or child care provider that your child has rubella. Rubella My grandson (4 yrs old) has contracted Rubella. I know for sure he has had at least one of the vaccines. They are living in Mexico right now. Should we be worried? | Rubella My grandson (4 yrs old) has contracted Rubella. I know for sure he has had at least one of the vaccines. They are living in Mexico right now. Should we be worried? | {
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In rare instances when a child or adult is infected with rubella, simple self-care measures are required: - Rest in bed as necessary. - Take acetaminophen (Tylenol, others) to relieve discomfort from fever and aches. - - Tell your child's school or child care provider that your child has rubella. | Rubella Overview Rubella, also called German measles or three-day measles, is a contagious viral infection best known by its distinctive red rash. Rubella is not the same as measles (rubeola), though the two illnesses do share some characteristics, including the red rash. However, rubella is caused by a different virus than measles, and is neither as infectious nor usually as severe as measles. The measles-mumps-rubella (MMR) vaccine, usually given to children in the United States twice before they reach school age, is highly effective in preventing rubella. Because of widespread use of the vaccine, the Centers for Disease Control and Prevention (CDC) has declared rubella eliminated in the United States, but cautions parents to make sure their children are vaccinated to prevent its reemergence. Symptoms The signs and symptoms of rubella are often so mild they're difficult to notice, especially in children. If signs and symptoms do occur, they generally appear between two and three weeks after exposure to the virus. They typically last about two to three days and may include: - Mild fever of 102 F (38.9 C) or lower - Headache - Stuffy or runny nose - Inflamed, red eyes - Enlarged, tender lymph nodes at the base of the skull, the back of the neck and behind the ears - A fine, pink rash that begins on the face and quickly spreads to the trunk and then the arms and legs, before disappearing in the same sequence - Aching joints, especially in young women When to see a doctor Contact your doctor if you think you or your child may have been exposed to rubella or if you have the signs or symptoms listed above. If you're contemplating getting pregnant, check your vaccination record to make sure you've received your MMR inoculations. If a pregnant woman contracts rubella, especially during her first trimester, the virus can cause death or serious birth defects in her developing fetus. Rubella during pregnancy is the most common cause of congenital deafness. It's best for women to be protected against rubella before pregnancy. If you're pregnant, you'll likely undergo a routine screening for immunity to rubella. But if you've never received the vaccine and think you might have been exposed to rubella, contact your doctor immediately. A blood test might confirm that you're already immune. Causes The cause of rubella is a virus that's passed from person to person. It can spread when an infected person coughs or sneezes, or it can spread by direct contact with an infected person's respiratory secretions, such as mucus. It can also be transmitted from a pregnant woman to her unborn child via the bloodstream. A person with rubella is contagious from 10 days before the onset of the rash until about one or two weeks after the rash disappears. An infected person can spread the illness before the person realizes he or she has it. Rubella is rare in the United States because most children receive a vaccination against the infection at an early age. However, cases of rubella do occur, mostly in unvaccinated foreign-born adults. The disease is still common in many parts of the world. The prevalence of rubella in other countries is something to consider before going abroad, especially if you're pregnant. Complications Rubella is a mild infection. Once you've had the disease, you're usually permanently immune. Some women with rubella experience arthritis in the fingers, wrists and knees, which generally lasts for about one month. In rare cases, rubella can cause an ear infection (otitis media) or inflammation of the brain (encephalitis). However, if you're pregnant when you contract rubella, the consequences for your unborn child may be severe. Up to 90 percent of infants born to mothers who had rubella during the first 12 weeks of pregnancy develop congenital rubella syndrome. This syndrome can cause one or more problems, including: - Growth retardation - Cataracts - Deafness - Congenital heart defects - Defects in other organs - Mental retardation The highest risk to the fetus is during the first trimester, but exposure later in pregnancy also is dangerous. Diagnosis The rubella rash can look like many other viral rashes. So doctors usually confirm rubella with the help of laboratory tests. You may have a virus culture or a blood test, which can detect the presence of different types of rubella antibodies in your blood. These antibodies indicate whether you've had a recent or past infection or a rubella vaccine. Treatment No treatment will shorten the course of rubella infection, and symptoms are so mild that treatment usually isn't necessary. However, doctors often recommend isolation from others - especially pregnant women - during the infectious period. If you contract rubella while you're pregnant, discuss the risks to your baby with your doctor. If you wish to continue your pregnancy, you may be given antibodies called hyperimmune globulin that can fight off the infection. This can reduce your symptoms, but doesn't eliminate the possibility of your baby developing congenital rubella syndrome. Support of an infant born with congenital rubella syndrome varies depending on the extent of the infant's problems. Children with multiple complications may require early treatment from a team of specialists. Lifestyle and home remedies In rare instances when a child or adult is infected with rubella, simple self-care measures are required: - Rest in bed as necessary. - Take acetaminophen (Tylenol, others) to relieve discomfort from fever and aches. - Tell friends, family and co-workers - especially pregnant women - about your diagnosis if they may have been exposed to the disease. - Avoid people who have conditions that cause deficient or suppressed immune systems. - Tell your child's school or child care provider that your child has rubella. Rubella My grandson (4 yrs old) has contracted Rubella. I know for sure he has had at least one of the vaccines. They are living in Mexico right now. Should we be worried? | Rubella My grandson (4 yrs old) has contracted Rubella. I know for sure he has had at least one of the vaccines. They are living in Mexico right now. Should we be worried? | {
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Get medical help right away if: - There are problems with breathing or circulation. - Direct pressure does not stop bleeding from the nose, ears, or wound. - There is drainage of clear fluid from the nose or ears. - There is facial swelling, bleeding, or bruising. - There is an object protruding from the skull. - The person is unconscious, is experiencing convulsions, has multiple injuries, appears to be in any distress, or cannot think clearly. | Skull fracture Basilar skull fracture Depressed skull fracture Linear skull fracture Summary A skull fracture is a fracture or break in the cranial (skull) bones. Considerations Skull fractures may occur with head injuries. The skull provides good protection for the brain. However, a severe impact or blow can cause the skull to break. It may be accompanied by concussion or other injury to the brain. The brain can be affected directly by damage to the nervous system tissue and bleeding. The brain can also be affected by bleeding under the skull. This can compress the underlying brain tissue (subdural or epidural hematoma). A simple fracture is a break in the bone without damage to the skin. A linear skull fracture is a break in a cranial bone resembling a thin line, without splintering, depression, or distortion of bone. A depressed skull fracture is a break in a cranial bone (or "crushed" portion of skull) with depression of the bone in toward the brain. A compound fracture involves a break in, or loss of, skin and splintering of the bone. Causes Causes of skull fracture can include: Head trauma Falls, automobile accidents, physical assault, and sports Symptoms Symptoms may include: Bleeding from wound, ears, nose, or around eyes Bruising behind the ears or under the eyes Changes in pupils (sizes unequal, not reactive to light) Confusion Convulsions Difficulties with balance Drainage of clear or bloody fluid from ears or nose Drowsiness Headache Loss of consciousness Nausea and vomiting Restlessness, irritability Slurred speech Stiff neck Swelling Visual disturbances In some cases, the only symptom may be a bump on the head. A bump or bruise may take up to 24 hours to develop. First Aid Take the following steps if you think someone has a skull fracture: <li>Check the airways, breathing, and circulation. If necessary, begin rescue breathing and CPR.</li> <li>Avoid moving the person (unless absolutely necessary) until medical help arrives. Have someone to call 911 (or the local emergency number) for medical assistance.</li> <li>If the person must be moved, take care to stabilize the head and neck. Place your hands on both sides of the head and under the shoulders. Do not allow the head to bend forward or backward, or to twist or turn.</li> <li>Carefully check the site of injury, but do not probe in or around the site with a foreign object. It can be hard to know if the skull is fractured or depressed (dented in) at the site of injury.</li> <li>If there is bleeding, apply firm pressure with a clean cloth over a broad area to control blood loss.</li> <li>If blood soaks through, do not remove the original cloth. Instead, apply more cloths on top, and continue to apply pressure.</li> <li>If the person is vomiting, stabilize the head and neck, and carefully turn the victim to the side to prevent choking on vomit.</li> <li>If the person is conscious and experiencing any of the previously listed symptoms, transport to the nearest emergency medical facility (even if the person does not think medical help is needed).</li> DO NOT Follow these precautions: DO NOT move the person unless absolutely necessary. Head injuries may be associated with spinal injuries. DO NOT remove protruding objects. DO NOT allow the person to continue with physical activities. DO NOT forget to watch the person closely until medical help arrives. DO NOT give the person any medicines before talking to a doctor. DO NOT leave the person alone, even if there are no obvious problems. When to Contact a Medical Professional Get medical help right away if: There are problems with breathing or circulation. Direct pressure does not stop bleeding from the nose, ears, or wound. There is drainage of clear fluid from the nose or ears. There is facial swelling, bleeding, or bruising. There is an object protruding from the skull. The person is unconscious, is experiencing convulsions, has multiple injuries, appears to be in any distress, or cannot think clearly. Prevention Not all head injuries can be prevented. The following simple steps can help keep you and your child safe: <li>Always use safety equipment during activities that could cause a head injury. These include seat belts, bicycle or motorcycle helmets, and hard hats.</li> <li>Learn and follow bicycle safety recommendations.</li> <li>Do not drink and drive. Do not allow yourself to be driven by someone who may have been drinking alcohol or is otherwise impaired. </li> Review Date 10/16/2017 Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Is it necessary to go to the dr. when getting a skull fracture? | Is it necessary to go to the dr. when getting a skull fracture? | {
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If you think someone has a skull fracture: - Check the airways, breathing, and circulation. If necessary, begin rescue breathing and CPR. - Avoid moving the person (unless absolutely necessary) until medical help arrives. Have someone to call 911 (or the local emergency number) for medical assistance. | Skull fracture Basilar skull fracture Depressed skull fracture Linear skull fracture Summary A skull fracture is a fracture or break in the cranial (skull) bones. Considerations Skull fractures may occur with head injuries. The skull provides good protection for the brain. However, a severe impact or blow can cause the skull to break. It may be accompanied by concussion or other injury to the brain. The brain can be affected directly by damage to the nervous system tissue and bleeding. The brain can also be affected by bleeding under the skull. This can compress the underlying brain tissue (subdural or epidural hematoma). 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Causes Causes of skull fracture can include: Head trauma Falls, automobile accidents, physical assault, and sports Symptoms Symptoms may include: Bleeding from wound, ears, nose, or around eyes Bruising behind the ears or under the eyes Changes in pupils (sizes unequal, not reactive to light) Confusion Convulsions Difficulties with balance Drainage of clear or bloody fluid from ears or nose Drowsiness Headache Loss of consciousness Nausea and vomiting Restlessness, irritability Slurred speech Stiff neck Swelling Visual disturbances In some cases, the only symptom may be a bump on the head. A bump or bruise may take up to 24 hours to develop. First Aid Take the following steps if you think someone has a skull fracture: <li>Check the airways, breathing, and circulation. If necessary, begin rescue breathing and CPR.</li> <li>Avoid moving the person (unless absolutely necessary) until medical help arrives. 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Instead, apply more cloths on top, and continue to apply pressure.</li> <li>If the person is vomiting, stabilize the head and neck, and carefully turn the victim to the side to prevent choking on vomit.</li> <li>If the person is conscious and experiencing any of the previously listed symptoms, transport to the nearest emergency medical facility (even if the person does not think medical help is needed).</li> DO NOT Follow these precautions: DO NOT move the person unless absolutely necessary. Head injuries may be associated with spinal injuries. DO NOT remove protruding objects. DO NOT allow the person to continue with physical activities. DO NOT forget to watch the person closely until medical help arrives. DO NOT give the person any medicines before talking to a doctor. DO NOT leave the person alone, even if there are no obvious problems. When to Contact a Medical Professional Get medical help right away if: There are problems with breathing or circulation. Direct pressure does not stop bleeding from the nose, ears, or wound. There is drainage of clear fluid from the nose or ears. There is facial swelling, bleeding, or bruising. There is an object protruding from the skull. The person is unconscious, is experiencing convulsions, has multiple injuries, appears to be in any distress, or cannot think clearly. Prevention Not all head injuries can be prevented. The following simple steps can help keep you and your child safe: <li>Always use safety equipment during activities that could cause a head injury. These include seat belts, bicycle or motorcycle helmets, and hard hats.</li> <li>Learn and follow bicycle safety recommendations.</li> <li>Do not drink and drive. Do not allow yourself to be driven by someone who may have been drinking alcohol or is otherwise impaired. </li> Review Date 10/16/2017 Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Is it necessary to go to the dr. when getting a skull fracture? | Is it necessary to go to the dr. when getting a skull fracture? | {
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Avoid moving the person (unless absolutely necessary) until medical help arrives. Have someone to call 911 (or the local emergency number) for medical assistance. Do NOT allow the person to continue with physical activities. - Do NOT forget to watch the person closely until medical help arrives. - Do NOT give the person any medicines before talking to a doctor. - Do NOT leave the person alone, even if there are no obvious problems. Get medical help right away if: - There are problems with breathing or circulation. - Direct pressure does not stop bleeding from the nose, ears, or wound. - There is drainage of clear fluid from the nose or ears. - There is facial swelling, bleeding, or bruising. - There is an object protruding from the skull. - The person is unconscious, is experiencing convulsions, has multiple injuries, appears to be in any distress, or cannot think clearly. | Skull fracture Basilar skull fracture Depressed skull fracture Linear skull fracture Summary A skull fracture is a fracture or break in the cranial (skull) bones. Considerations Skull fractures may occur with head injuries. The skull provides good protection for the brain. However, a severe impact or blow can cause the skull to break. It may be accompanied by concussion or other injury to the brain. The brain can be affected directly by damage to the nervous system tissue and bleeding. The brain can also be affected by bleeding under the skull. This can compress the underlying brain tissue (subdural or epidural hematoma). A simple fracture is a break in the bone without damage to the skin. A linear skull fracture is a break in a cranial bone resembling a thin line, without splintering, depression, or distortion of bone. A depressed skull fracture is a break in a cranial bone (or "crushed" portion of skull) with depression of the bone in toward the brain. A compound fracture involves a break in, or loss of, skin and splintering of the bone. Causes Causes of skull fracture can include: Head trauma Falls, automobile accidents, physical assault, and sports Symptoms Symptoms may include: Bleeding from wound, ears, nose, or around eyes Bruising behind the ears or under the eyes Changes in pupils (sizes unequal, not reactive to light) Confusion Convulsions Difficulties with balance Drainage of clear or bloody fluid from ears or nose Drowsiness Headache Loss of consciousness Nausea and vomiting Restlessness, irritability Slurred speech Stiff neck Swelling Visual disturbances In some cases, the only symptom may be a bump on the head. A bump or bruise may take up to 24 hours to develop. First Aid Take the following steps if you think someone has a skull fracture: <li>Check the airways, breathing, and circulation. If necessary, begin rescue breathing and CPR.</li> <li>Avoid moving the person (unless absolutely necessary) until medical help arrives. Have someone to call 911 (or the local emergency number) for medical assistance.</li> <li>If the person must be moved, take care to stabilize the head and neck. Place your hands on both sides of the head and under the shoulders. Do not allow the head to bend forward or backward, or to twist or turn.</li> <li>Carefully check the site of injury, but do not probe in or around the site with a foreign object. It can be hard to know if the skull is fractured or depressed (dented in) at the site of injury.</li> <li>If there is bleeding, apply firm pressure with a clean cloth over a broad area to control blood loss.</li> <li>If blood soaks through, do not remove the original cloth. Instead, apply more cloths on top, and continue to apply pressure.</li> <li>If the person is vomiting, stabilize the head and neck, and carefully turn the victim to the side to prevent choking on vomit.</li> <li>If the person is conscious and experiencing any of the previously listed symptoms, transport to the nearest emergency medical facility (even if the person does not think medical help is needed).</li> DO NOT Follow these precautions: DO NOT move the person unless absolutely necessary. Head injuries may be associated with spinal injuries. DO NOT remove protruding objects. DO NOT allow the person to continue with physical activities. DO NOT forget to watch the person closely until medical help arrives. DO NOT give the person any medicines before talking to a doctor. DO NOT leave the person alone, even if there are no obvious problems. When to Contact a Medical Professional Get medical help right away if: There are problems with breathing or circulation. Direct pressure does not stop bleeding from the nose, ears, or wound. There is drainage of clear fluid from the nose or ears. There is facial swelling, bleeding, or bruising. There is an object protruding from the skull. The person is unconscious, is experiencing convulsions, has multiple injuries, appears to be in any distress, or cannot think clearly. Prevention Not all head injuries can be prevented. The following simple steps can help keep you and your child safe: <li>Always use safety equipment during activities that could cause a head injury. These include seat belts, bicycle or motorcycle helmets, and hard hats.</li> <li>Learn and follow bicycle safety recommendations.</li> <li>Do not drink and drive. Do not allow yourself to be driven by someone who may have been drinking alcohol or is otherwise impaired. </li> Review Date 10/16/2017 Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Is it necessary to go to the dr. when getting a skull fracture? | Is it necessary to go to the dr. when getting a skull fracture? | {
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Do NOT move the person unless absolutely necessary. Head injuries may be associated with spinal injuries. - Do NOT remove protruding objects. - Do NOT allow the person to continue with physical activities. - Do NOT forget to watch the person closely until medical help arrives. - Do NOT give the person any medicines before talking to a doctor. - Do NOT leave the person alone, even if there are no obvious problems. | Skull fracture Basilar skull fracture Depressed skull fracture Linear skull fracture Summary A skull fracture is a fracture or break in the cranial (skull) bones. Considerations Skull fractures may occur with head injuries. The skull provides good protection for the brain. However, a severe impact or blow can cause the skull to break. It may be accompanied by concussion or other injury to the brain. The brain can be affected directly by damage to the nervous system tissue and bleeding. The brain can also be affected by bleeding under the skull. This can compress the underlying brain tissue (subdural or epidural hematoma). A simple fracture is a break in the bone without damage to the skin. A linear skull fracture is a break in a cranial bone resembling a thin line, without splintering, depression, or distortion of bone. A depressed skull fracture is a break in a cranial bone (or "crushed" portion of skull) with depression of the bone in toward the brain. A compound fracture involves a break in, or loss of, skin and splintering of the bone. Causes Causes of skull fracture can include: Head trauma Falls, automobile accidents, physical assault, and sports Symptoms Symptoms may include: Bleeding from wound, ears, nose, or around eyes Bruising behind the ears or under the eyes Changes in pupils (sizes unequal, not reactive to light) Confusion Convulsions Difficulties with balance Drainage of clear or bloody fluid from ears or nose Drowsiness Headache Loss of consciousness Nausea and vomiting Restlessness, irritability Slurred speech Stiff neck Swelling Visual disturbances In some cases, the only symptom may be a bump on the head. A bump or bruise may take up to 24 hours to develop. First Aid Take the following steps if you think someone has a skull fracture: <li>Check the airways, breathing, and circulation. If necessary, begin rescue breathing and CPR.</li> <li>Avoid moving the person (unless absolutely necessary) until medical help arrives. Have someone to call 911 (or the local emergency number) for medical assistance.</li> <li>If the person must be moved, take care to stabilize the head and neck. Place your hands on both sides of the head and under the shoulders. Do not allow the head to bend forward or backward, or to twist or turn.</li> <li>Carefully check the site of injury, but do not probe in or around the site with a foreign object. It can be hard to know if the skull is fractured or depressed (dented in) at the site of injury.</li> <li>If there is bleeding, apply firm pressure with a clean cloth over a broad area to control blood loss.</li> <li>If blood soaks through, do not remove the original cloth. Instead, apply more cloths on top, and continue to apply pressure.</li> <li>If the person is vomiting, stabilize the head and neck, and carefully turn the victim to the side to prevent choking on vomit.</li> <li>If the person is conscious and experiencing any of the previously listed symptoms, transport to the nearest emergency medical facility (even if the person does not think medical help is needed).</li> DO NOT Follow these precautions: DO NOT move the person unless absolutely necessary. Head injuries may be associated with spinal injuries. DO NOT remove protruding objects. DO NOT allow the person to continue with physical activities. DO NOT forget to watch the person closely until medical help arrives. DO NOT give the person any medicines before talking to a doctor. DO NOT leave the person alone, even if there are no obvious problems. When to Contact a Medical Professional Get medical help right away if: There are problems with breathing or circulation. Direct pressure does not stop bleeding from the nose, ears, or wound. There is drainage of clear fluid from the nose or ears. There is facial swelling, bleeding, or bruising. There is an object protruding from the skull. The person is unconscious, is experiencing convulsions, has multiple injuries, appears to be in any distress, or cannot think clearly. Prevention Not all head injuries can be prevented. The following simple steps can help keep you and your child safe: <li>Always use safety equipment during activities that could cause a head injury. These include seat belts, bicycle or motorcycle helmets, and hard hats.</li> <li>Learn and follow bicycle safety recommendations.</li> <li>Do not drink and drive. Do not allow yourself to be driven by someone who may have been drinking alcohol or is otherwise impaired. </li> Review Date 10/16/2017 Updated by: Jesse Borke, MD, FACEP, FAAEM, Attending Physician at FDR Medical Services/Millard Fillmore Suburban Hospital, Buffalo, NY. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Is it necessary to go to the dr. when getting a skull fracture? | Is it necessary to go to the dr. when getting a skull fracture? | {
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Spina bifida may cause minimal symptoms or only minor physical disabilities. If the spina bifida is severe, sometimes it leads to more significant physical disabilities. This list of possible complications may seem overwhelming, but not all children with spina bifida get all these complications. And these conditions can be treated. | Spina bifida Overview Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It falls under the broader category of neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby's brain and spinal cord and the tissues that enclose them. Normally, the neural tube forms early in pregnancy, and it closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the spine. Spina bifida can range from mild to severe, depending on the type of defect, size, location and complications. When early treatment for spina bifida is necessary, it's done surgically, although such treatment doesn't always completely resolve the problem. Types Spina bifida can occur in different forms: spina bifida occulta, meningocele (muh-NING-go-seel) or myelomeningocele (my-uh-lo-muh-NING-go-seel). The severity of spina bifida depends on the type, size, location and complications. "Occulta" means hidden. The mildest form, spina bifida occulta results in a small separation or gap in one or more of the bones of the spine (vertebrae). Many people who have spina bifida occulta don't even know it, unless the condition is discovered during an imaging test done for unrelated reasons. In a form of spina bifida called meningocele, the protective membranes around the spinal cord (meninges) push out through the opening in the vertebrae, forming a sac filled with fluid. But this sac doesn't include the spinal cord, so nerve damage is less likely, though later complications are possible. Also known as open spina bifida, myelomeningocele is the most severe form. The spinal canal is open along several vertebrae in the lower or middle back. The membranes and spinal nerves push through this opening at birth, forming a sac on the baby's back, typically exposing tissues and nerves. This makes the baby prone to life-threatening infections. Symptoms Signs and symptoms of spina bifida vary by type and severity. Symptoms can also differ for each person. - Spina bifida occulta. Because the spinal nerves usually aren't involved, typically there are no signs or symptoms. But visible indications can sometimes be seen on the newborn's skin above the spinal defect, including an abnormal tuft of hair, or a small dimple or birthmark. - Meningocele. The membranes around the spinal cord push out through an opening in the vertebrae, forming a sac filled with fluid, but this sac doesn't include the spinal cord. - Myelomeningocele. In this severe form of spina bifida: - The spinal canal remains open along several vertebrae in the lower or middle back. - Both the membranes and the spinal cord or nerves protrude at birth, forming a sac. - Tissues and nerves usually are exposed, though sometimes skin covers the sac. When to see a doctor Typically, meningocele and myelomeningocele are diagnosed before or right after birth, when medical care is available. These children should be followed by a specialized team of doctors throughout their lives and families should be educated on the different complications to watch for. Children with spina bifida occulta typically don't have any symptoms or complications, so usually only routine pediatric care is needed. Causes Doctors aren't certain what causes spina bifida. As with many other problems, it appears to result from a combination of genetic and environmental risk factors, such as a family history of neural tube defects and folate deficiency. Risk factors Spina bifida is more common among whites and Hispanics, and females are affected more often than males. Although doctors and researchers don't know for sure why spina bifida occurs, they have identified some risk factors: - Folate deficiency. Folate (vitamin B-9) is important to the healthy development of a baby. Folate is the natural form of vitamin B-9. The synthetic form, found in supplements and fortified foods, is called folic acid. A folate deficiency increases the risk of spina bifida and other neural tube defects. - Family history of neural tube defects. Couples who've had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect. That risk increases if two previous children have been affected by the condition. In addition, a woman who was born with a neural tube defect has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the condition. - Some medications. For example, anti-seizure medications, such as valproic acid (Depakene), seem to cause neural tube defects when taken during pregnancy, possibly because they interfere with the body's ability to use folate and folic acid. - Diabetes. Women with diabetes who don't control their blood sugar well have a higher risk of having a baby with spina bifida. - Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida. - Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida. Elevating your core body temperature, due to fever or the use of saunas or hot tubs, has been associated with a possible slight increased risk of spina bifida. If you have known risk factors for spina bifida, talk with your doctor to determine if you need a larger dose or prescription dose of folic acid, even before a pregnancy begins. If you take medications, tell your doctor. Some medications can be adjusted to diminish the potential risk of spina bifida, if plans are made ahead of time. Complications Spina bifida may cause minimal symptoms or only minor physical disabilities. If the spina bifida is severe, sometimes it leads to more significant physical disabilities. Severity is affected by: - The size and location of the neural tube defect - Whether skin covers the affected area - Which spinal nerves come out of the affected area of the spinal cord This list of possible complications may seem overwhelming, but not all children with spina bifida get all these complications. And these conditions can be treated. - Walking and mobility problems. The nerves that control the leg muscles don't work properly below the area of the spina bifida defect, causing muscle weakness of the legs, sometimes involving paralysis. Whether a child can walk typically depends on where the defect is, its size, and the care received before and after birth. - Orthopedic complications. Children with myelomeningocele can have a variety of problems in the legs and spine because of weak muscles in the legs and back. The types of problems depend on the level of the defect. Possible problems include a curved spine (scoliosis), abnormal growth or dislocation of the hip, bone and joint deformities, muscle contractures and other orthopedic concerns. - Bowel and bladder problems. Nerves that supply the bladder and bowels usually don't work properly when children have myelomeningocele. This is because the nerves that supply the bowel and bladder come from the lowest level of the spinal cord. - Accumulation of fluid in the brain (hydrocephalus). Babies born with myelomeningocele commonly experience accumulation of fluid in the brain, a condition known as hydrocephalus. - Shunt malfunction. Shunts can stop working or become infected. Warning signs may vary. Some of the warning signs of a shunt that isn't working include headaches, vomiting, sleepiness, irritability, swelling or redness along the shunt, confusion, changes in the eyes (fixed downward gaze), trouble feeding, or seizures. - Chiari malformation type II. Chiari malformation (kee-AH-ree mal-for-MAY-shun) type II is a common brain abnormality in children with the myelomeningocele form of spina bifida. The brainstem, or lowest part of the brain above the spinal cord, is elongated and positioned lower than usual. This can cause problems with breathing and swallowing. Rarely, compression on this area of the brain occurs and surgery is needed to relieve the pressure. - Infection in the tissues surrounding the brain (meningitis). Some babies with myelomeningocele may develop meningitis, an infection in the tissues surrounding the brain. This potentially life-threatening infection may cause brain injury. - Tethered spinal cord. Tethered spinal cord results when the spinal nerves become bound to the scar where the defect was closed surgically, making the spinal cord less able to grow as the child grows. This progressive tethering can cause loss of muscle function to the legs, bowel or bladder. Surgery can limit the degree of disability. - Sleep-disordered breathing. Both children and adults with spina bifida, particularly myelomeningocele, may have sleep apnea or other sleep disorders. Assessment for a sleep disorder in those with myelomeningocele helps detect sleep-disordered breathing, such as sleep apnea, which warrants treatment to improve health and quality of life. - Skin problems. Children with spina bifida may get wounds on their feet, legs, buttocks or back. They can't feel when they get a blister or sore. Sores or blisters can turn into deep wounds or foot infections that are hard to treat. Children with myelomeningocele have a higher risk of wound problems in casts. - Latex allergy. Children with spina bifida have a higher risk of latex allergy, an allergic reaction to natural rubber or latex products. Latex allergy may cause rash, sneezing, itching, watery eyes and a runny nose. It can also cause anaphylaxis, a potentially life-threatening condition in which swelling of the face and airways can make breathing difficult. So it's best to use latex-free gloves and equipment at delivery time and when caring for a child with spina bifida. - Other complications. More problems may arise as children with spina bifida get older, such as urinary tract infections, gastrointestinal (GI) disorders and depression. Children with myelomeningocele may develop learning disabilities, such as problems paying attention, and difficulty learning reading and math. Diagnosis If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and other birth defects. The tests aren't perfect. Some mothers who have positive blood tests have normal babies. Even if the results are negative, there's still a small chance that spina bifida is present. Talk to your doctor about prenatal testing, its risks and how you might handle the results. Blood tests Your doctor will most likely check for spina bifida by first performing these tests: - Maternal serum alpha-fetoprotein (MSAFP) test. For the MSAFP test, a sample of the mother's blood is drawn and tested for alpha-fetoprotein (AFP) - a protein produced by the baby. It's normal for a small amount of AFP to cross the placenta and enter the mother's bloodstream. But abnormally high levels of AFP suggest that the baby has a neural tube defect, such as spina bifida, though some spina bifida cases don't produce high levels of AFP. - Test to confirm high AFP levels. Varying levels of AFP can be caused by other factors - including a miscalculation in fetal age or multiple babies - so your doctor may order a follow-up blood test for confirmation. If the results are still high, you'll need further evaluation, including an ultrasound exam. - Other blood tests. Your doctor may perform the MSAFP test with two or three other blood tests. These tests are commonly done with the MSAFP test, but their objective is to screen for other abnormalities, such as trisomy 21 (Down syndrome), not neural tube defects. Ultrasound Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The most common ultrasound exams bounce high-frequency sound waves off tissues in your body to form images on a video monitor. The information these images provide can help establish whether there's more than one baby and can help confirm gestational age, two factors that can affect AFP levels. An advanced ultrasound also can detect signs of spina bifida, such as an open spine or particular features in your baby's brain that indicate spina bifida. Amniocentesis If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove a sample of fluid from the amniotic sac that surrounds the baby. An analysis of the sample indicates the level of AFP present in the amniotic fluid. A small amount of AFP is normally found in amniotic fluid. However, when an open neural tube defect is present, the amniotic fluid contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac. Discuss the risks of amniocentesis, including a slight risk of loss of the pregnancy, with your doctor. Treatment Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often doesn't require treatment at all, but other types of spina bifida do. Surgery before birth Nerve function in babies with spina bifida can worsen after birth if it's not treated. Prenatal surgery for spina bifida (fetal surgery) takes place before the 26th week of pregnancy. Surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord. Research suggests that children with spina bifida who had fetal surgery may have reduced disability and be less likely to need crutches or other walking devices. In addition, fetal surgery may reduce the risk of hydrocephalus. Ask your doctor whether this procedure may be appropriate for you. Discuss the risks, such as possible premature delivery and other complications, and potential benefits for you and your baby. It's important to have a comprehensive evaluation to determine whether fetal surgery is feasible. This specialized surgery should only be done at a health care facility that has experienced fetal surgery experts, a multispecialty team approach and neonatal intensive care. Typically the team includes a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist and neonatologist. Cesarean birth Many babies with myelomeningocele tend to be in a feet-first (breech) position. If your baby is in this position or if your doctor has detected a large cyst or sac, cesarean birth may be a safer way to deliver your baby. Surgery after birth Meningocele involves surgery to put the meninges back in place and close the opening in the vertebrae. Because the spinal cord develops normally in babies with meningocele, these membranes often can be removed by surgery with little or no damage to nerve pathways. Myelomeningocele also requires surgery. Performing the surgery early can help minimize risk of infection that's associated with the exposed nerves and may also help protect the spinal cord from more trauma. During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord. Treatment for complications In babies with myelomeningocele, irreparable nerve damage has likely already occurred and ongoing care from a multispecialty team of surgeons, physicians and therapists is usually needed. Babies with myelomeningocele may need more surgery for a variety of complications. Treatment for complications - such as weak legs, bladder and bowel problems or hydrocephalus - typically begins soon after birth. Depending on the severity of spina bifida and the complications, treatment may include, for example: - Walking and mobility aids. Some babies may start exercises to prepare their legs for walking with braces or crutches when they're older. Some children may need walkers or a wheelchair. Mobility aids, along with regular physical therapy, can help a child become independent. - Bowel and bladder management. Routine bowel and bladder evaluations and management plans help reduce the risk of organ damage and illness. Evaluations include X-rays, kidney scans, ultrasounds, blood tests and bladder function studies. These evaluations will be more frequent in the first few years of life, but less often as children grow. - Bowel management may include oral medications, suppositories, enemas, surgery, or a combination of these approaches. - Bladder management may include medications, using catheters to empty the bladder, surgery, or a combination. - For children, a specialist in pediatric urology with experience in evaluating and performing surgery on children with spina bifida is the best choice. - Surgery for hydrocephalus. Most babies with myelomeningocele will need a ventricular shunt - a surgically placed tube that allows fluid in the brain to drain into the abdomen. This tube might be placed just after birth, during the surgery to close the sac on the lower back or later as fluid accumulates. A less invasive procedure, called endoscopic third ventriculostomy, may be used, but candidates must be carefully chosen and meet certain criteria. The surgeon uses a small video camera to see inside the brain and makes a hole in the bottom of or between the ventricles so cerebrospinal fluid can flow out of the brain. - Treatment and management of other complications. To help with functioning, special equipment such as bath chairs, commode chairs and standing frames may be needed. Whatever the issue - orthopedic complications, tethered spinal cord, GI issues, skin problems, or others - most spina bifida complications can be treated or at least managed to improve quality of life. Ongoing care Children with spina bifida need close follow-up care and observation. Their primary care doctors follow growth, the need for immunizations and general medical issues. They coordinate your child's medical care. Children with spina bifida also often need treatment and ongoing care from: - Physical medicine and rehabilitation - Neurology - Neurosurgery - Urology - Orthopedics - Physical therapy - Occupational therapy - Special education teachers - Social workers - Dietitians Parents and other caregivers are a key part of the team, learning how to help manage their child's condition and how to encourage and support their child emotionally and socially. Keep in mind that children with spina bifida can go on to college, hold jobs and have families. Special accommodations may be necessary along the way, but encourage your child to be as independent as possible. spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | {
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There is no cure for spina bifida, but there are treatments for a wide array of related conditions. | Spina Bifida Myelomeningocele Meningocele Spina bifida occulta Overview Spina bifida (pronounced SPAHY-nuh BIF-i-duh) is a neural tube defect that frequently occurs in families. Spina bifida occurs because of an abnormality of the development of the spinal cord that occurs in the first trimester of pregnancy. Within the first 4 weeks after a fetus is conceived, the backbone and membranes that cover and protect the spinal cord and spine do not form and close properly. This can result in an opening anywhere along the spine and may cause damage to the spinal cord and nerves. The defect may be associated with a protrusion of the membrane covering the spinal cord (meninges) alone, called a meningocele, or with some neural elements, called a meningomyelocele. Or the defect may not be noticed until later in life. The NICHD plays a leading role, along with the Centers for Disease Control and Prevention (CDC), in distributing federal funding for spina bifida research. NICHD-supported scientists are investigating genetic, neurological, and environmental variables that cause spina bifida or that influence neurobehavioral outcomes for children with spina bifida. These scientists also are assessing spina bifida's effects on physical and cognitive development in early childhood, developing new diagnostic ultrasound techniques, and studying the advantages of in utero (pronounced in-YOO-tuh-roh, in the uterus) spinal cord repair for infants with spina bifida. Condition Information What is spina bifida? Spina bifida (pronounced SPAHY-nuh BIF-i-duh) is a neural tube defect that frequently occurs in families. Spina bifida occurs because of an abnormality of the development of the spinal cord that occurs in the first trimester of pregnancy. Within the first 4 weeks after a fetus is conceived, the backbone and membranes that cover and protect the spinal cord and spine does not form and close properly. This can result in an opening anywhere along the spine and may cause damage to the spinal cord and nerves. The defect may be associated with a protrusion of the membrane covering the spinal cord (meninges) alone, called a meningocele, or with some neural elements, called a meningomyelocele. Or the defect may not be noticed until later in life. Spina bifida can cause physical and mental disabilities ranging from mild to severe, depending on the size and location of the opening in the spine, and whether the spinal cord and nerves are affected. The three most common types of spina bifida are as follows: Myelomeningocele (pronounced mahy-uh-loh-MUH-ning-guh-seel), in which a sac of fluid containing part of the spinal cord and nerves comes through an opening in the infant’s back, causing nerve damage. Also called “open spina bifida,” this condition causes moderate to severe disabilities, such as problems going to the bathroom, loss of feeling in the legs or feet, and paralysis in the legs. Meningocele (pronounced muh-NING-guh-seel), in which a sac of fluid without the spinal cord comes through an opening in the infant’s back. This type of spina bifida can cause minor disabilities, but there is usually little or no nerve damage. Spina Bifida Occulta (pronounced SPAHY-nuh BIF-i-duh uh-KUHL-tuh), the mildest type of spina bifida, in which there is a small gap in the spine but no opening or sac on the back. Some infants have a dimple, hairy patch, dark spot, or swelling at the affected place on the back, but the spinal cord and the nerves usually are not damaged. This type of spina bifida usually does not cause any disabilities. Often, spina bifida occulta is not discovered until late childhood or adulthood and sometimes not at all. This is why it is sometimes called “hidden” spina bifida. How many people are affected/at risk? » How many people are affected/at risk? About 1,500 infants are born with spina bifida each year in the United States. Anyone can give birth to an infant with spina bifida. However, parents who already have had a child with spina bifida or another neural tube defect have a 4% increased risk of having a second child with spina bifida. Parents of two children with spina bifida have about a 10% chance of having another child with this condition. When one parent has spina bifida, there is about a 4% chance that his or her child also will have it. Women who are obese, have poorly controlled diabetes, or take certain antiseizure medications are at greater risk of having a child with spina bifida. « Condition Information What causes it? » What causes it? Scientists believe that spina bifida is caused by a combination of genetic and environmental factors, such as the mother’s nutrition. Research has shown that getting enough folic acid (a B vitamin) before and during pregnancy can prevent most cases of spina bifida. « How many people are affected/at risk? How is it diagnosed? » How is it diagnosed? Doctors diagnose spina bifida before or after the infant is born. Spina bifida occulta might not be identified until late childhood or adulthood, or it might not be identified at all. During Pregnancy Screening tests can check for spina bifida and other birth defects. - Blood tests. A “triple screen” examines blood in several ways to look for neural tube defects, such as spina bifida, and other issues. One of these tests measures AFP, or alpha-fetoprotein (pronounced al-fuh FEE-toh-proh-teen), which the fetus produces. A high AFP level might mean that the child has spina bifida. - Amniocentesis (pronounced am-nee-oh-sen-TEE-sis). The doctor uses a long needle to obtain some of the amniotic fluid surrounding the fetus in the womb. The fluid can be tested for high levels of AFP, which can mean that the fetus has spina bifida. - Ultrasound. This technology allows doctors to look at and take pictures of the fetus while it is inside the mother’s womb. Often, spina bifida can be identified through ultrasound. After the Child Is Born Sometimes spina bifida is discovered only after the infant is born, especially if the mother did not have prenatal tests or if the ultrasound could not give a clear picture of the spine. Sometimes there is a hairy patch, dimple, dark spot, or swelling on the infant’s back, at the site of the gap in the spine. A doctor can examine the infant’s spine and bones in the back using an image scan such as an X-ray, MRI, or CT. « What causes it? Is there a cure? » Is there a cure? There is no cure for spina bifida, but there are treatments for a wide array of related conditions. Visit the section on treatments for more information. « How is it diagnosed? Are there associated conditions? » Are there associated conditions? Health issues are different for each person with spina bifida. Open spina bifida (myelomeningocele)—in which the spinal cord is exposed—tends to cause more severe problems. Hydrocephalus Many infants born with spina bifida get extra fluid in and around the brain, a condition called hydrocephalus, or water on the brain. The extra fluid can cause swelling of the head, which may lead to brain injury. Chiari II Malformation The brains of most children with open spina bifida are positioned abnormally. The lower part of the brain rests farther down than normal, partially in the upper spinal canal. The cerebrospinal (pronounced suh-ree-broh-SPAHYN-l) fluid can get blocked and cause hydrocephalus. While most affected children have no other symptoms, a few may have upper body weakness and trouble breathing and swallowing. Tethered Spinal Cord Typically, the bottom of the spinal cord floats freely in the spinal canal, but for many people with spina bifida, the spinal cord is attached to the spinal canal. Thus, the spinal cord stretches as a person grows, and this stretching can cause spinal nerve damage. The person might have back pain, scoliosis (crooked spine, pronounced skoh-lee-OH-sis), weakness in the legs and feet, bladder or bowel control problems, and other issues. Paralysis, Mobility Limitations People with spina bifida high on the back (near the head, for instance) might not be able to move their legs. People with spina bifida low on the back (near the hips, for example) might have some leg mobility and be able to walk unassisted or with crutches, braces, or walkers. Lack of Bladder and Bowel Control People with spina bifida often cannot control their bladder and bowel movements. They also can develop urinary tract infections. Latex Allergy Many people with spina bifida—possibly three-quarters of those with the condition—are allergic to latex, or natural rubber. While researchers still don’t entirely understand why the rate in those with spina bifida is so high, some experts believe such an allergy can be caused by frequent exposure to latex, which is common for people with spina bifida who have shunts and have had many surgeries. Learning Disabilities While at least 80% of children with open spina bifida do not have learning deficiencies, some do have learning problems. Other Conditions Some people with open spina bifida have additional physical and psychological conditions, including digestive, vision, sexual, social, and emotional problems; obesity; and depression. « Is there a cure? What are the treatments? » What are the treatments? Open Spina Bifida An infant with open spina bifida (myelomeningocele), in which the spinal cord is exposed, can have surgery to close the hole in the back before birth or within the first few days after birth. Hydrocephalus If an infant with spina bifida has hydrocephalus (water on the brain), a surgeon can implant a shunt—a small hollow tube to drain the extra fluid and relieve pressure on the brain. The shunt may need to be replaced during childhood. Tethered Spinal Cord For a child with this condition, in which the spinal cord is attached to the spinal canal and stretches as the child grows, surgery can separate the spinal cord from surrounding tissue, allowing the child to regain his or her usual level of functioning. Paralysis, Mobility Limitations People with spina bifida use different ways to get around, according to their needs. They may be able to walk without assistance, or they may use braces, crutches, walkers, or wheelchairs. Urinary Tract Infections, Lack of Bladder and Bowel Control People with open spina bifida often have nerve damage that prevents the bladder from completely emptying, a condition that can cause urinary tract infections and kidney damage. The child or parent can address this problem by inserting a plastic tube called a catheter into the bladder several times a day to allow the bladder to empty fully. Medications, injections, and surgery can also help address incontinence issues and preserve kidney and bladder function for the long term. Children with spina bifida should see a urologist (a doctor who specializes in urinary tract problems) regularly. « Are there associated conditions? spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | {
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Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often doesn't require treatment at all, but other types of spina bifida do. Surgery before birth Nerve function in babies with spina bifida can worsen after birth if it's not treated. Prenatal surgery for spina bifida (fetal surgery) takes place before the 26th week of pregnancy. Surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord. Research suggests that children with spina bifida who had fetal surgery may have reduced disability and be less likely to need crutches or other walking devices. In addition, fetal surgery may reduce the risk of hydrocephalus. Ask your doctor whether this procedure may be appropriate for you. Surgery after birth Performing the surgery early can help minimize risk of infection that's associated with the exposed nerves and may also help protect the spinal cord from more trauma. During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord. Depending on the severity of spina bifida and the complications, treatment may include, for example: - Walking and mobility aids. Some babies may start exercises to prepare their legs for walking with braces or crutches when they're older. Some children may need walkers or a wheelchair. Mobility aids, along with regular physical therapy, can help a child become independent. - Bowel and bladder management.. - Bowel management may include oral medications, suppositories, enemas, surgery, or a combination of these approaches. - Bladder management may include medications, using catheters to empty the bladder, surgery, or a combination. - - Treatment and management of other complications. To help with functioning, special equipment such as bath chairs, commode chairs and standing frames may be needed. Whatever the issue - orthopedic complications, tethered spinal cord, GI issues, skin problems, or others - most spina bifida complications can be treated or at least managed to improve quality of life. Ongoing care Children with spina bifida need close follow-up care and observation. Their primary care doctors follow growth, the need for immunizations and general medical issues. They coordinate your child's medical care. Children with spina bifida also often need treatment and ongoing care from: - Physical medicine and rehabilitation - Neurology - Neurosurgery - Urology - Orthopedics - Physical therapy - Occupational therapy - Special education teachers - Social workers - Dietitians Parents and other caregivers are a key part of the team, learning how to help manage their child's condition and how to encourage and support their child emotionally and socially. Keep in mind that children with spina bifida can go on to college, hold jobs and have families. Special accommodations may be necessary along the way, but encourage your child to be as independent as possible. | Spina bifida Overview Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It falls under the broader category of neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby's brain and spinal cord and the tissues that enclose them. Normally, the neural tube forms early in pregnancy, and it closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the spine. Spina bifida can range from mild to severe, depending on the type of defect, size, location and complications. When early treatment for spina bifida is necessary, it's done surgically, although such treatment doesn't always completely resolve the problem. Types Spina bifida can occur in different forms: spina bifida occulta, meningocele (muh-NING-go-seel) or myelomeningocele (my-uh-lo-muh-NING-go-seel). The severity of spina bifida depends on the type, size, location and complications. "Occulta" means hidden. The mildest form, spina bifida occulta results in a small separation or gap in one or more of the bones of the spine (vertebrae). Many people who have spina bifida occulta don't even know it, unless the condition is discovered during an imaging test done for unrelated reasons. In a form of spina bifida called meningocele, the protective membranes around the spinal cord (meninges) push out through the opening in the vertebrae, forming a sac filled with fluid. But this sac doesn't include the spinal cord, so nerve damage is less likely, though later complications are possible. Also known as open spina bifida, myelomeningocele is the most severe form. The spinal canal is open along several vertebrae in the lower or middle back. The membranes and spinal nerves push through this opening at birth, forming a sac on the baby's back, typically exposing tissues and nerves. This makes the baby prone to life-threatening infections. Symptoms Signs and symptoms of spina bifida vary by type and severity. Symptoms can also differ for each person. - Spina bifida occulta. Because the spinal nerves usually aren't involved, typically there are no signs or symptoms. But visible indications can sometimes be seen on the newborn's skin above the spinal defect, including an abnormal tuft of hair, or a small dimple or birthmark. - Meningocele. The membranes around the spinal cord push out through an opening in the vertebrae, forming a sac filled with fluid, but this sac doesn't include the spinal cord. - Myelomeningocele. In this severe form of spina bifida: - The spinal canal remains open along several vertebrae in the lower or middle back. - Both the membranes and the spinal cord or nerves protrude at birth, forming a sac. - Tissues and nerves usually are exposed, though sometimes skin covers the sac. When to see a doctor Typically, meningocele and myelomeningocele are diagnosed before or right after birth, when medical care is available. These children should be followed by a specialized team of doctors throughout their lives and families should be educated on the different complications to watch for. Children with spina bifida occulta typically don't have any symptoms or complications, so usually only routine pediatric care is needed. Causes Doctors aren't certain what causes spina bifida. As with many other problems, it appears to result from a combination of genetic and environmental risk factors, such as a family history of neural tube defects and folate deficiency. Risk factors Spina bifida is more common among whites and Hispanics, and females are affected more often than males. Although doctors and researchers don't know for sure why spina bifida occurs, they have identified some risk factors: - Folate deficiency. Folate (vitamin B-9) is important to the healthy development of a baby. Folate is the natural form of vitamin B-9. The synthetic form, found in supplements and fortified foods, is called folic acid. A folate deficiency increases the risk of spina bifida and other neural tube defects. - Family history of neural tube defects. Couples who've had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect. That risk increases if two previous children have been affected by the condition. In addition, a woman who was born with a neural tube defect has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the condition. - Some medications. For example, anti-seizure medications, such as valproic acid (Depakene), seem to cause neural tube defects when taken during pregnancy, possibly because they interfere with the body's ability to use folate and folic acid. - Diabetes. Women with diabetes who don't control their blood sugar well have a higher risk of having a baby with spina bifida. - Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida. - Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida. Elevating your core body temperature, due to fever or the use of saunas or hot tubs, has been associated with a possible slight increased risk of spina bifida. If you have known risk factors for spina bifida, talk with your doctor to determine if you need a larger dose or prescription dose of folic acid, even before a pregnancy begins. If you take medications, tell your doctor. Some medications can be adjusted to diminish the potential risk of spina bifida, if plans are made ahead of time. Complications Spina bifida may cause minimal symptoms or only minor physical disabilities. If the spina bifida is severe, sometimes it leads to more significant physical disabilities. Severity is affected by: - The size and location of the neural tube defect - Whether skin covers the affected area - Which spinal nerves come out of the affected area of the spinal cord This list of possible complications may seem overwhelming, but not all children with spina bifida get all these complications. And these conditions can be treated. - Walking and mobility problems. The nerves that control the leg muscles don't work properly below the area of the spina bifida defect, causing muscle weakness of the legs, sometimes involving paralysis. Whether a child can walk typically depends on where the defect is, its size, and the care received before and after birth. - Orthopedic complications. Children with myelomeningocele can have a variety of problems in the legs and spine because of weak muscles in the legs and back. The types of problems depend on the level of the defect. Possible problems include a curved spine (scoliosis), abnormal growth or dislocation of the hip, bone and joint deformities, muscle contractures and other orthopedic concerns. - Bowel and bladder problems. Nerves that supply the bladder and bowels usually don't work properly when children have myelomeningocele. This is because the nerves that supply the bowel and bladder come from the lowest level of the spinal cord. - Accumulation of fluid in the brain (hydrocephalus). Babies born with myelomeningocele commonly experience accumulation of fluid in the brain, a condition known as hydrocephalus. - Shunt malfunction. Shunts can stop working or become infected. Warning signs may vary. Some of the warning signs of a shunt that isn't working include headaches, vomiting, sleepiness, irritability, swelling or redness along the shunt, confusion, changes in the eyes (fixed downward gaze), trouble feeding, or seizures. - Chiari malformation type II. Chiari malformation (kee-AH-ree mal-for-MAY-shun) type II is a common brain abnormality in children with the myelomeningocele form of spina bifida. The brainstem, or lowest part of the brain above the spinal cord, is elongated and positioned lower than usual. This can cause problems with breathing and swallowing. Rarely, compression on this area of the brain occurs and surgery is needed to relieve the pressure. - Infection in the tissues surrounding the brain (meningitis). Some babies with myelomeningocele may develop meningitis, an infection in the tissues surrounding the brain. This potentially life-threatening infection may cause brain injury. - Tethered spinal cord. Tethered spinal cord results when the spinal nerves become bound to the scar where the defect was closed surgically, making the spinal cord less able to grow as the child grows. This progressive tethering can cause loss of muscle function to the legs, bowel or bladder. Surgery can limit the degree of disability. - Sleep-disordered breathing. Both children and adults with spina bifida, particularly myelomeningocele, may have sleep apnea or other sleep disorders. Assessment for a sleep disorder in those with myelomeningocele helps detect sleep-disordered breathing, such as sleep apnea, which warrants treatment to improve health and quality of life. - Skin problems. Children with spina bifida may get wounds on their feet, legs, buttocks or back. They can't feel when they get a blister or sore. Sores or blisters can turn into deep wounds or foot infections that are hard to treat. Children with myelomeningocele have a higher risk of wound problems in casts. - Latex allergy. Children with spina bifida have a higher risk of latex allergy, an allergic reaction to natural rubber or latex products. Latex allergy may cause rash, sneezing, itching, watery eyes and a runny nose. It can also cause anaphylaxis, a potentially life-threatening condition in which swelling of the face and airways can make breathing difficult. So it's best to use latex-free gloves and equipment at delivery time and when caring for a child with spina bifida. - Other complications. More problems may arise as children with spina bifida get older, such as urinary tract infections, gastrointestinal (GI) disorders and depression. Children with myelomeningocele may develop learning disabilities, such as problems paying attention, and difficulty learning reading and math. Diagnosis If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and other birth defects. The tests aren't perfect. Some mothers who have positive blood tests have normal babies. Even if the results are negative, there's still a small chance that spina bifida is present. Talk to your doctor about prenatal testing, its risks and how you might handle the results. Blood tests Your doctor will most likely check for spina bifida by first performing these tests: - Maternal serum alpha-fetoprotein (MSAFP) test. For the MSAFP test, a sample of the mother's blood is drawn and tested for alpha-fetoprotein (AFP) - a protein produced by the baby. It's normal for a small amount of AFP to cross the placenta and enter the mother's bloodstream. But abnormally high levels of AFP suggest that the baby has a neural tube defect, such as spina bifida, though some spina bifida cases don't produce high levels of AFP. - Test to confirm high AFP levels. Varying levels of AFP can be caused by other factors - including a miscalculation in fetal age or multiple babies - so your doctor may order a follow-up blood test for confirmation. If the results are still high, you'll need further evaluation, including an ultrasound exam. - Other blood tests. Your doctor may perform the MSAFP test with two or three other blood tests. These tests are commonly done with the MSAFP test, but their objective is to screen for other abnormalities, such as trisomy 21 (Down syndrome), not neural tube defects. Ultrasound Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The most common ultrasound exams bounce high-frequency sound waves off tissues in your body to form images on a video monitor. The information these images provide can help establish whether there's more than one baby and can help confirm gestational age, two factors that can affect AFP levels. An advanced ultrasound also can detect signs of spina bifida, such as an open spine or particular features in your baby's brain that indicate spina bifida. Amniocentesis If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove a sample of fluid from the amniotic sac that surrounds the baby. An analysis of the sample indicates the level of AFP present in the amniotic fluid. A small amount of AFP is normally found in amniotic fluid. However, when an open neural tube defect is present, the amniotic fluid contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac. Discuss the risks of amniocentesis, including a slight risk of loss of the pregnancy, with your doctor. Treatment Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often doesn't require treatment at all, but other types of spina bifida do. Surgery before birth Nerve function in babies with spina bifida can worsen after birth if it's not treated. Prenatal surgery for spina bifida (fetal surgery) takes place before the 26th week of pregnancy. Surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord. Research suggests that children with spina bifida who had fetal surgery may have reduced disability and be less likely to need crutches or other walking devices. In addition, fetal surgery may reduce the risk of hydrocephalus. Ask your doctor whether this procedure may be appropriate for you. Discuss the risks, such as possible premature delivery and other complications, and potential benefits for you and your baby. It's important to have a comprehensive evaluation to determine whether fetal surgery is feasible. This specialized surgery should only be done at a health care facility that has experienced fetal surgery experts, a multispecialty team approach and neonatal intensive care. Typically the team includes a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist and neonatologist. Cesarean birth Many babies with myelomeningocele tend to be in a feet-first (breech) position. If your baby is in this position or if your doctor has detected a large cyst or sac, cesarean birth may be a safer way to deliver your baby. Surgery after birth Meningocele involves surgery to put the meninges back in place and close the opening in the vertebrae. Because the spinal cord develops normally in babies with meningocele, these membranes often can be removed by surgery with little or no damage to nerve pathways. Myelomeningocele also requires surgery. Performing the surgery early can help minimize risk of infection that's associated with the exposed nerves and may also help protect the spinal cord from more trauma. During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord. Treatment for complications In babies with myelomeningocele, irreparable nerve damage has likely already occurred and ongoing care from a multispecialty team of surgeons, physicians and therapists is usually needed. Babies with myelomeningocele may need more surgery for a variety of complications. Treatment for complications - such as weak legs, bladder and bowel problems or hydrocephalus - typically begins soon after birth. Depending on the severity of spina bifida and the complications, treatment may include, for example: - Walking and mobility aids. Some babies may start exercises to prepare their legs for walking with braces or crutches when they're older. Some children may need walkers or a wheelchair. Mobility aids, along with regular physical therapy, can help a child become independent. - Bowel and bladder management. Routine bowel and bladder evaluations and management plans help reduce the risk of organ damage and illness. Evaluations include X-rays, kidney scans, ultrasounds, blood tests and bladder function studies. These evaluations will be more frequent in the first few years of life, but less often as children grow. - Bowel management may include oral medications, suppositories, enemas, surgery, or a combination of these approaches. - Bladder management may include medications, using catheters to empty the bladder, surgery, or a combination. - For children, a specialist in pediatric urology with experience in evaluating and performing surgery on children with spina bifida is the best choice. - Surgery for hydrocephalus. Most babies with myelomeningocele will need a ventricular shunt - a surgically placed tube that allows fluid in the brain to drain into the abdomen. This tube might be placed just after birth, during the surgery to close the sac on the lower back or later as fluid accumulates. A less invasive procedure, called endoscopic third ventriculostomy, may be used, but candidates must be carefully chosen and meet certain criteria. The surgeon uses a small video camera to see inside the brain and makes a hole in the bottom of or between the ventricles so cerebrospinal fluid can flow out of the brain. - Treatment and management of other complications. To help with functioning, special equipment such as bath chairs, commode chairs and standing frames may be needed. Whatever the issue - orthopedic complications, tethered spinal cord, GI issues, skin problems, or others - most spina bifida complications can be treated or at least managed to improve quality of life. Ongoing care Children with spina bifida need close follow-up care and observation. Their primary care doctors follow growth, the need for immunizations and general medical issues. They coordinate your child's medical care. Children with spina bifida also often need treatment and ongoing care from: - Physical medicine and rehabilitation - Neurology - Neurosurgery - Urology - Orthopedics - Physical therapy - Occupational therapy - Special education teachers - Social workers - Dietitians Parents and other caregivers are a key part of the team, learning how to help manage their child's condition and how to encourage and support their child emotionally and socially. Keep in mind that children with spina bifida can go on to college, hold jobs and have families. Special accommodations may be necessary along the way, but encourage your child to be as independent as possible. spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | {
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Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often doesn't require treatment at all, but other types of spina bifida do. Surgery before birth Nerve function in babies with spina bifida can worsen after birth if it's not treated. Prenatal surgery for spina bifida (fetal surgery) takes place before the 26th week of pregnancy. Surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord. Research suggests that children with spina bifida who had fetal surgery may have reduced disability and be less likely to need crutches or other walking devices. In addition, fetal surgery may reduce the risk of hydrocephalus. Ask your doctor whether this procedure may be appropriate for you. Surgery after birth Performing the surgery early can help minimize risk of infection that's associated with the exposed nerves and may also help protect the spinal cord from more trauma. During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord. Depending on the severity of spina bifida and the complications, treatment may include, for example: - Walking and mobility aids. Some babies may start exercises to prepare their legs for walking with braces or crutches when they're older. Some children may need walkers or a wheelchair. Mobility aids, along with regular physical therapy, can help a child become independent. - Bowel and bladder management.. - Bowel management may include oral medications, suppositories, enemas, surgery, or a combination of these approaches. - Bladder management may include medications, using catheters to empty the bladder, surgery, or a combination. - - Treatment and management of other complications. To help with functioning, special equipment such as bath chairs, commode chairs and standing frames may be needed. Whatever the issue - orthopedic complications, tethered spinal cord, GI issues, skin problems, or others - most spina bifida complications can be treated or at least managed to improve quality of life. Ongoing care Children with spina bifida need close follow-up care and observation. Their primary care doctors follow growth, the need for immunizations and general medical issues. They coordinate your child's medical care. Children with spina bifida also often need treatment and ongoing care from: - Physical medicine and rehabilitation - Neurology - Neurosurgery - Urology - Orthopedics - Physical therapy - Occupational therapy - Special education teachers - Social workers - Dietitians Parents and other caregivers are a key part of the team, learning how to help manage their child's condition and how to encourage and support their child emotionally and socially. Keep in mind that children with spina bifida can go on to college, hold jobs and have families. Special accommodations may be necessary along the way, but encourage your child to be as independent as possible. | Spina bifida Overview Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It falls under the broader category of neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby's brain and spinal cord and the tissues that enclose them. Normally, the neural tube forms early in pregnancy, and it closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the spine. Spina bifida can range from mild to severe, depending on the type of defect, size, location and complications. When early treatment for spina bifida is necessary, it's done surgically, although such treatment doesn't always completely resolve the problem. Types Spina bifida can occur in different forms: spina bifida occulta, meningocele (muh-NING-go-seel) or myelomeningocele (my-uh-lo-muh-NING-go-seel). The severity of spina bifida depends on the type, size, location and complications. "Occulta" means hidden. The mildest form, spina bifida occulta results in a small separation or gap in one or more of the bones of the spine (vertebrae). Many people who have spina bifida occulta don't even know it, unless the condition is discovered during an imaging test done for unrelated reasons. In a form of spina bifida called meningocele, the protective membranes around the spinal cord (meninges) push out through the opening in the vertebrae, forming a sac filled with fluid. But this sac doesn't include the spinal cord, so nerve damage is less likely, though later complications are possible. Also known as open spina bifida, myelomeningocele is the most severe form. The spinal canal is open along several vertebrae in the lower or middle back. The membranes and spinal nerves push through this opening at birth, forming a sac on the baby's back, typically exposing tissues and nerves. This makes the baby prone to life-threatening infections. Symptoms Signs and symptoms of spina bifida vary by type and severity. Symptoms can also differ for each person. - Spina bifida occulta. Because the spinal nerves usually aren't involved, typically there are no signs or symptoms. But visible indications can sometimes be seen on the newborn's skin above the spinal defect, including an abnormal tuft of hair, or a small dimple or birthmark. - Meningocele. The membranes around the spinal cord push out through an opening in the vertebrae, forming a sac filled with fluid, but this sac doesn't include the spinal cord. - Myelomeningocele. In this severe form of spina bifida: - The spinal canal remains open along several vertebrae in the lower or middle back. - Both the membranes and the spinal cord or nerves protrude at birth, forming a sac. - Tissues and nerves usually are exposed, though sometimes skin covers the sac. When to see a doctor Typically, meningocele and myelomeningocele are diagnosed before or right after birth, when medical care is available. These children should be followed by a specialized team of doctors throughout their lives and families should be educated on the different complications to watch for. Children with spina bifida occulta typically don't have any symptoms or complications, so usually only routine pediatric care is needed. Causes Doctors aren't certain what causes spina bifida. As with many other problems, it appears to result from a combination of genetic and environmental risk factors, such as a family history of neural tube defects and folate deficiency. Risk factors Spina bifida is more common among whites and Hispanics, and females are affected more often than males. Although doctors and researchers don't know for sure why spina bifida occurs, they have identified some risk factors: - Folate deficiency. Folate (vitamin B-9) is important to the healthy development of a baby. Folate is the natural form of vitamin B-9. The synthetic form, found in supplements and fortified foods, is called folic acid. A folate deficiency increases the risk of spina bifida and other neural tube defects. - Family history of neural tube defects. Couples who've had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect. That risk increases if two previous children have been affected by the condition. In addition, a woman who was born with a neural tube defect has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the condition. - Some medications. For example, anti-seizure medications, such as valproic acid (Depakene), seem to cause neural tube defects when taken during pregnancy, possibly because they interfere with the body's ability to use folate and folic acid. - Diabetes. Women with diabetes who don't control their blood sugar well have a higher risk of having a baby with spina bifida. - Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida. - Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida. Elevating your core body temperature, due to fever or the use of saunas or hot tubs, has been associated with a possible slight increased risk of spina bifida. If you have known risk factors for spina bifida, talk with your doctor to determine if you need a larger dose or prescription dose of folic acid, even before a pregnancy begins. If you take medications, tell your doctor. Some medications can be adjusted to diminish the potential risk of spina bifida, if plans are made ahead of time. Complications Spina bifida may cause minimal symptoms or only minor physical disabilities. If the spina bifida is severe, sometimes it leads to more significant physical disabilities. Severity is affected by: - The size and location of the neural tube defect - Whether skin covers the affected area - Which spinal nerves come out of the affected area of the spinal cord This list of possible complications may seem overwhelming, but not all children with spina bifida get all these complications. And these conditions can be treated. - Walking and mobility problems. The nerves that control the leg muscles don't work properly below the area of the spina bifida defect, causing muscle weakness of the legs, sometimes involving paralysis. Whether a child can walk typically depends on where the defect is, its size, and the care received before and after birth. - Orthopedic complications. Children with myelomeningocele can have a variety of problems in the legs and spine because of weak muscles in the legs and back. The types of problems depend on the level of the defect. Possible problems include a curved spine (scoliosis), abnormal growth or dislocation of the hip, bone and joint deformities, muscle contractures and other orthopedic concerns. - Bowel and bladder problems. Nerves that supply the bladder and bowels usually don't work properly when children have myelomeningocele. This is because the nerves that supply the bowel and bladder come from the lowest level of the spinal cord. - Accumulation of fluid in the brain (hydrocephalus). Babies born with myelomeningocele commonly experience accumulation of fluid in the brain, a condition known as hydrocephalus. - Shunt malfunction. Shunts can stop working or become infected. Warning signs may vary. Some of the warning signs of a shunt that isn't working include headaches, vomiting, sleepiness, irritability, swelling or redness along the shunt, confusion, changes in the eyes (fixed downward gaze), trouble feeding, or seizures. - Chiari malformation type II. Chiari malformation (kee-AH-ree mal-for-MAY-shun) type II is a common brain abnormality in children with the myelomeningocele form of spina bifida. The brainstem, or lowest part of the brain above the spinal cord, is elongated and positioned lower than usual. This can cause problems with breathing and swallowing. Rarely, compression on this area of the brain occurs and surgery is needed to relieve the pressure. - Infection in the tissues surrounding the brain (meningitis). Some babies with myelomeningocele may develop meningitis, an infection in the tissues surrounding the brain. This potentially life-threatening infection may cause brain injury. - Tethered spinal cord. Tethered spinal cord results when the spinal nerves become bound to the scar where the defect was closed surgically, making the spinal cord less able to grow as the child grows. This progressive tethering can cause loss of muscle function to the legs, bowel or bladder. Surgery can limit the degree of disability. - Sleep-disordered breathing. Both children and adults with spina bifida, particularly myelomeningocele, may have sleep apnea or other sleep disorders. Assessment for a sleep disorder in those with myelomeningocele helps detect sleep-disordered breathing, such as sleep apnea, which warrants treatment to improve health and quality of life. - Skin problems. Children with spina bifida may get wounds on their feet, legs, buttocks or back. They can't feel when they get a blister or sore. Sores or blisters can turn into deep wounds or foot infections that are hard to treat. Children with myelomeningocele have a higher risk of wound problems in casts. - Latex allergy. Children with spina bifida have a higher risk of latex allergy, an allergic reaction to natural rubber or latex products. Latex allergy may cause rash, sneezing, itching, watery eyes and a runny nose. It can also cause anaphylaxis, a potentially life-threatening condition in which swelling of the face and airways can make breathing difficult. So it's best to use latex-free gloves and equipment at delivery time and when caring for a child with spina bifida. - Other complications. More problems may arise as children with spina bifida get older, such as urinary tract infections, gastrointestinal (GI) disorders and depression. Children with myelomeningocele may develop learning disabilities, such as problems paying attention, and difficulty learning reading and math. Diagnosis If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and other birth defects. The tests aren't perfect. Some mothers who have positive blood tests have normal babies. Even if the results are negative, there's still a small chance that spina bifida is present. Talk to your doctor about prenatal testing, its risks and how you might handle the results. Blood tests Your doctor will most likely check for spina bifida by first performing these tests: - Maternal serum alpha-fetoprotein (MSAFP) test. For the MSAFP test, a sample of the mother's blood is drawn and tested for alpha-fetoprotein (AFP) - a protein produced by the baby. It's normal for a small amount of AFP to cross the placenta and enter the mother's bloodstream. But abnormally high levels of AFP suggest that the baby has a neural tube defect, such as spina bifida, though some spina bifida cases don't produce high levels of AFP. - Test to confirm high AFP levels. Varying levels of AFP can be caused by other factors - including a miscalculation in fetal age or multiple babies - so your doctor may order a follow-up blood test for confirmation. If the results are still high, you'll need further evaluation, including an ultrasound exam. - Other blood tests. Your doctor may perform the MSAFP test with two or three other blood tests. These tests are commonly done with the MSAFP test, but their objective is to screen for other abnormalities, such as trisomy 21 (Down syndrome), not neural tube defects. Ultrasound Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The most common ultrasound exams bounce high-frequency sound waves off tissues in your body to form images on a video monitor. The information these images provide can help establish whether there's more than one baby and can help confirm gestational age, two factors that can affect AFP levels. An advanced ultrasound also can detect signs of spina bifida, such as an open spine or particular features in your baby's brain that indicate spina bifida. Amniocentesis If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove a sample of fluid from the amniotic sac that surrounds the baby. An analysis of the sample indicates the level of AFP present in the amniotic fluid. A small amount of AFP is normally found in amniotic fluid. However, when an open neural tube defect is present, the amniotic fluid contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac. Discuss the risks of amniocentesis, including a slight risk of loss of the pregnancy, with your doctor. Treatment Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often doesn't require treatment at all, but other types of spina bifida do. Surgery before birth Nerve function in babies with spina bifida can worsen after birth if it's not treated. Prenatal surgery for spina bifida (fetal surgery) takes place before the 26th week of pregnancy. Surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord. Research suggests that children with spina bifida who had fetal surgery may have reduced disability and be less likely to need crutches or other walking devices. In addition, fetal surgery may reduce the risk of hydrocephalus. Ask your doctor whether this procedure may be appropriate for you. Discuss the risks, such as possible premature delivery and other complications, and potential benefits for you and your baby. It's important to have a comprehensive evaluation to determine whether fetal surgery is feasible. This specialized surgery should only be done at a health care facility that has experienced fetal surgery experts, a multispecialty team approach and neonatal intensive care. Typically the team includes a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist and neonatologist. Cesarean birth Many babies with myelomeningocele tend to be in a feet-first (breech) position. If your baby is in this position or if your doctor has detected a large cyst or sac, cesarean birth may be a safer way to deliver your baby. Surgery after birth Meningocele involves surgery to put the meninges back in place and close the opening in the vertebrae. Because the spinal cord develops normally in babies with meningocele, these membranes often can be removed by surgery with little or no damage to nerve pathways. Myelomeningocele also requires surgery. Performing the surgery early can help minimize risk of infection that's associated with the exposed nerves and may also help protect the spinal cord from more trauma. During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord. Treatment for complications In babies with myelomeningocele, irreparable nerve damage has likely already occurred and ongoing care from a multispecialty team of surgeons, physicians and therapists is usually needed. Babies with myelomeningocele may need more surgery for a variety of complications. Treatment for complications - such as weak legs, bladder and bowel problems or hydrocephalus - typically begins soon after birth. Depending on the severity of spina bifida and the complications, treatment may include, for example: - Walking and mobility aids. Some babies may start exercises to prepare their legs for walking with braces or crutches when they're older. Some children may need walkers or a wheelchair. Mobility aids, along with regular physical therapy, can help a child become independent. - Bowel and bladder management. Routine bowel and bladder evaluations and management plans help reduce the risk of organ damage and illness. Evaluations include X-rays, kidney scans, ultrasounds, blood tests and bladder function studies. These evaluations will be more frequent in the first few years of life, but less often as children grow. - Bowel management may include oral medications, suppositories, enemas, surgery, or a combination of these approaches. - Bladder management may include medications, using catheters to empty the bladder, surgery, or a combination. - For children, a specialist in pediatric urology with experience in evaluating and performing surgery on children with spina bifida is the best choice. - Surgery for hydrocephalus. Most babies with myelomeningocele will need a ventricular shunt - a surgically placed tube that allows fluid in the brain to drain into the abdomen. This tube might be placed just after birth, during the surgery to close the sac on the lower back or later as fluid accumulates. A less invasive procedure, called endoscopic third ventriculostomy, may be used, but candidates must be carefully chosen and meet certain criteria. The surgeon uses a small video camera to see inside the brain and makes a hole in the bottom of or between the ventricles so cerebrospinal fluid can flow out of the brain. - Treatment and management of other complications. To help with functioning, special equipment such as bath chairs, commode chairs and standing frames may be needed. Whatever the issue - orthopedic complications, tethered spinal cord, GI issues, skin problems, or others - most spina bifida complications can be treated or at least managed to improve quality of life. Ongoing care Children with spina bifida need close follow-up care and observation. Their primary care doctors follow growth, the need for immunizations and general medical issues. They coordinate your child's medical care. Children with spina bifida also often need treatment and ongoing care from: - Physical medicine and rehabilitation - Neurology - Neurosurgery - Urology - Orthopedics - Physical therapy - Occupational therapy - Special education teachers - Social workers - Dietitians Parents and other caregivers are a key part of the team, learning how to help manage their child's condition and how to encourage and support their child emotionally and socially. Keep in mind that children with spina bifida can go on to college, hold jobs and have families. Special accommodations may be necessary along the way, but encourage your child to be as independent as possible. spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | {
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Some people with open spina bifida have additional physical and psychological conditions, including digestive, vision, sexual, social, and emotional problems; obesity; and depression. « Is there a cure? What are the treatments? » | Spina Bifida Myelomeningocele Meningocele Spina bifida occulta Overview Spina bifida (pronounced SPAHY-nuh BIF-i-duh) is a neural tube defect that frequently occurs in families. Spina bifida occurs because of an abnormality of the development of the spinal cord that occurs in the first trimester of pregnancy. Within the first 4 weeks after a fetus is conceived, the backbone and membranes that cover and protect the spinal cord and spine do not form and close properly. This can result in an opening anywhere along the spine and may cause damage to the spinal cord and nerves. The defect may be associated with a protrusion of the membrane covering the spinal cord (meninges) alone, called a meningocele, or with some neural elements, called a meningomyelocele. Or the defect may not be noticed until later in life. The NICHD plays a leading role, along with the Centers for Disease Control and Prevention (CDC), in distributing federal funding for spina bifida research. NICHD-supported scientists are investigating genetic, neurological, and environmental variables that cause spina bifida or that influence neurobehavioral outcomes for children with spina bifida. These scientists also are assessing spina bifida's effects on physical and cognitive development in early childhood, developing new diagnostic ultrasound techniques, and studying the advantages of in utero (pronounced in-YOO-tuh-roh, in the uterus) spinal cord repair for infants with spina bifida. Condition Information What is spina bifida? Spina bifida (pronounced SPAHY-nuh BIF-i-duh) is a neural tube defect that frequently occurs in families. Spina bifida occurs because of an abnormality of the development of the spinal cord that occurs in the first trimester of pregnancy. Within the first 4 weeks after a fetus is conceived, the backbone and membranes that cover and protect the spinal cord and spine does not form and close properly. This can result in an opening anywhere along the spine and may cause damage to the spinal cord and nerves. The defect may be associated with a protrusion of the membrane covering the spinal cord (meninges) alone, called a meningocele, or with some neural elements, called a meningomyelocele. Or the defect may not be noticed until later in life. Spina bifida can cause physical and mental disabilities ranging from mild to severe, depending on the size and location of the opening in the spine, and whether the spinal cord and nerves are affected. The three most common types of spina bifida are as follows: Myelomeningocele (pronounced mahy-uh-loh-MUH-ning-guh-seel), in which a sac of fluid containing part of the spinal cord and nerves comes through an opening in the infant’s back, causing nerve damage. Also called “open spina bifida,” this condition causes moderate to severe disabilities, such as problems going to the bathroom, loss of feeling in the legs or feet, and paralysis in the legs. Meningocele (pronounced muh-NING-guh-seel), in which a sac of fluid without the spinal cord comes through an opening in the infant’s back. This type of spina bifida can cause minor disabilities, but there is usually little or no nerve damage. Spina Bifida Occulta (pronounced SPAHY-nuh BIF-i-duh uh-KUHL-tuh), the mildest type of spina bifida, in which there is a small gap in the spine but no opening or sac on the back. Some infants have a dimple, hairy patch, dark spot, or swelling at the affected place on the back, but the spinal cord and the nerves usually are not damaged. This type of spina bifida usually does not cause any disabilities. Often, spina bifida occulta is not discovered until late childhood or adulthood and sometimes not at all. This is why it is sometimes called “hidden” spina bifida. How many people are affected/at risk? » How many people are affected/at risk? About 1,500 infants are born with spina bifida each year in the United States. Anyone can give birth to an infant with spina bifida. However, parents who already have had a child with spina bifida or another neural tube defect have a 4% increased risk of having a second child with spina bifida. Parents of two children with spina bifida have about a 10% chance of having another child with this condition. When one parent has spina bifida, there is about a 4% chance that his or her child also will have it. Women who are obese, have poorly controlled diabetes, or take certain antiseizure medications are at greater risk of having a child with spina bifida. « Condition Information What causes it? » What causes it? Scientists believe that spina bifida is caused by a combination of genetic and environmental factors, such as the mother’s nutrition. Research has shown that getting enough folic acid (a B vitamin) before and during pregnancy can prevent most cases of spina bifida. « How many people are affected/at risk? How is it diagnosed? » How is it diagnosed? Doctors diagnose spina bifida before or after the infant is born. Spina bifida occulta might not be identified until late childhood or adulthood, or it might not be identified at all. During Pregnancy Screening tests can check for spina bifida and other birth defects. - Blood tests. A “triple screen” examines blood in several ways to look for neural tube defects, such as spina bifida, and other issues. One of these tests measures AFP, or alpha-fetoprotein (pronounced al-fuh FEE-toh-proh-teen), which the fetus produces. A high AFP level might mean that the child has spina bifida. - Amniocentesis (pronounced am-nee-oh-sen-TEE-sis). The doctor uses a long needle to obtain some of the amniotic fluid surrounding the fetus in the womb. The fluid can be tested for high levels of AFP, which can mean that the fetus has spina bifida. - Ultrasound. This technology allows doctors to look at and take pictures of the fetus while it is inside the mother’s womb. Often, spina bifida can be identified through ultrasound. After the Child Is Born Sometimes spina bifida is discovered only after the infant is born, especially if the mother did not have prenatal tests or if the ultrasound could not give a clear picture of the spine. Sometimes there is a hairy patch, dimple, dark spot, or swelling on the infant’s back, at the site of the gap in the spine. A doctor can examine the infant’s spine and bones in the back using an image scan such as an X-ray, MRI, or CT. « What causes it? Is there a cure? » Is there a cure? There is no cure for spina bifida, but there are treatments for a wide array of related conditions. Visit the section on treatments for more information. « How is it diagnosed? Are there associated conditions? » Are there associated conditions? Health issues are different for each person with spina bifida. Open spina bifida (myelomeningocele)—in which the spinal cord is exposed—tends to cause more severe problems. Hydrocephalus Many infants born with spina bifida get extra fluid in and around the brain, a condition called hydrocephalus, or water on the brain. The extra fluid can cause swelling of the head, which may lead to brain injury. Chiari II Malformation The brains of most children with open spina bifida are positioned abnormally. The lower part of the brain rests farther down than normal, partially in the upper spinal canal. The cerebrospinal (pronounced suh-ree-broh-SPAHYN-l) fluid can get blocked and cause hydrocephalus. While most affected children have no other symptoms, a few may have upper body weakness and trouble breathing and swallowing. Tethered Spinal Cord Typically, the bottom of the spinal cord floats freely in the spinal canal, but for many people with spina bifida, the spinal cord is attached to the spinal canal. Thus, the spinal cord stretches as a person grows, and this stretching can cause spinal nerve damage. The person might have back pain, scoliosis (crooked spine, pronounced skoh-lee-OH-sis), weakness in the legs and feet, bladder or bowel control problems, and other issues. Paralysis, Mobility Limitations People with spina bifida high on the back (near the head, for instance) might not be able to move their legs. People with spina bifida low on the back (near the hips, for example) might have some leg mobility and be able to walk unassisted or with crutches, braces, or walkers. Lack of Bladder and Bowel Control People with spina bifida often cannot control their bladder and bowel movements. They also can develop urinary tract infections. Latex Allergy Many people with spina bifida—possibly three-quarters of those with the condition—are allergic to latex, or natural rubber. While researchers still don’t entirely understand why the rate in those with spina bifida is so high, some experts believe such an allergy can be caused by frequent exposure to latex, which is common for people with spina bifida who have shunts and have had many surgeries. Learning Disabilities While at least 80% of children with open spina bifida do not have learning deficiencies, some do have learning problems. Other Conditions Some people with open spina bifida have additional physical and psychological conditions, including digestive, vision, sexual, social, and emotional problems; obesity; and depression. « Is there a cure? What are the treatments? » What are the treatments? Open Spina Bifida An infant with open spina bifida (myelomeningocele), in which the spinal cord is exposed, can have surgery to close the hole in the back before birth or within the first few days after birth. Hydrocephalus If an infant with spina bifida has hydrocephalus (water on the brain), a surgeon can implant a shunt—a small hollow tube to drain the extra fluid and relieve pressure on the brain. The shunt may need to be replaced during childhood. Tethered Spinal Cord For a child with this condition, in which the spinal cord is attached to the spinal canal and stretches as the child grows, surgery can separate the spinal cord from surrounding tissue, allowing the child to regain his or her usual level of functioning. Paralysis, Mobility Limitations People with spina bifida use different ways to get around, according to their needs. They may be able to walk without assistance, or they may use braces, crutches, walkers, or wheelchairs. Urinary Tract Infections, Lack of Bladder and Bowel Control People with open spina bifida often have nerve damage that prevents the bladder from completely emptying, a condition that can cause urinary tract infections and kidney damage. The child or parent can address this problem by inserting a plastic tube called a catheter into the bladder several times a day to allow the bladder to empty fully. Medications, injections, and surgery can also help address incontinence issues and preserve kidney and bladder function for the long term. Children with spina bifida should see a urologist (a doctor who specializes in urinary tract problems) regularly. « Are there associated conditions? spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | spina bifida; vertbral fusion;syrinx tethered cord. can u help for treatment of these problem | {
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resources address the diagnosis or management of limb-girdle muscular dystrophy | Limb-girdle muscular dystrophy LGMD limb-girdle syndrome myopathic limb-girdle syndrome Description Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild. In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy. Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation). Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder. Frequency It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals. Causes The various forms of limb-girdle muscular dystrophy are caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in muscle maintenance and repair. Some of the proteins produced from these genes assemble with other proteins into larger protein complexes. These complexes maintain the physical integrity of muscle tissue and allow the muscles to contract. Other proteins participate in cell signaling, cell membrane repair, or the removal of potentially toxic wastes from muscle cells. Limb-girdle muscular dystrophy is classified based on its inheritance pattern and genetic cause. Limb-girdle muscular dystrophy type 1 includes forms of the disorder that have an inheritance pattern called autosomal dominant. Mutations in the LMNA gene cause limb-girdle muscular dystrophy type 1B. Limb-girdle muscular dystrophy type 1C is one of a group of muscle disorders called caveolinopathies caused by mutations in the CAV3 gene. Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive. Calpainopathy, or limb-girdle muscular dystrophy type 2A, is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Dysferlinopathy, also called limb-girdle muscular dystrophy type 2B, is caused by mutations in the DYSF gene. Sarcoglycanopathies are forms of limb-girdle muscular dystrophy caused by mutations in the SGCA, SGCB, SGCG, and SGCD genes. These sarcoglycanopathies are known as limb-girdle muscular dystrophy types 2D, 2E, 2C, and 2F respectively. A TTN gene mutation causes limb-girdle muscular dystrophy type 2J, which has been identified only in the Finnish population. Mutations in the ANO5 gene cause limb-girdle muscular dystrophy type 2L. Mutations in several other genes cause forms of limb-girdle muscular dystrophy called dystroglycanopathies, including limb-girdle muscular dystrophy types 2I, 2K, 2M, and 2N. Other rare forms of limb-girdle muscular dystrophy are caused by mutations in several other genes, some of which have not been identified. Inheritance Pattern Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Several rare forms of limb-girdle muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Sources for This Page Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Review. Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | {
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There are no known treatments that reverse the muscle weakness. Gene therapy may become available in the future. Supportive treatment can decrease the complications of the disease. The condition is managed based on the person?s symptoms. It includes: - Heart monitoring - Mobility aids - Physical therapy - Respiratory care - Weight control Surgery is sometimes needed for any bone or joint problems. | Limb-girdle muscular dystrophies Muscular dystrophy - limb-girdle type (LGMD) Summary Limb-girdle muscular dystrophies include at least 18 different inherited disorders. (There are 16 known genetic forms.) These disorders first affect the muscles around the shoulder girdle and hips. These diseases get worse. Eventually, it may involve other muscles. Causes Limb-girdle muscular dystrophies are a large group of genetic diseases in which there is muscle weakness and wasting (muscular dystrophy). In most cases, both parents must pass on the non-working (defective) gene for a child to have the disease (autosomal recessive inheritance). In some rare types, only one parent needs to pass on the non-working gene to affect the child. This is called autosomal dominant inheritance. For 16 of these conditions, the defective gene has been discovered. For others, the gene is not yet known. An important risk factor is having a family member with muscular dystrophy. Symptoms Most often, the first sign is pelvic muscle weakness. Examples of this include trouble standing from a sitting position without using the arms, or difficulty climbing stairs. The weakness starts in childhood to young adulthood. Other symptoms include: Abnormal, sometimes waddling, walk Joints that are fixed in a contracted position (late in the disease) Large and muscular-looking calves (pseudohypertrophy), which are not actually strong Loss of muscle mass, thinning of certain body parts Low back pain Palpitations or passing-out spells Shoulder weakness Weakness of the muscles in the face (later in the disease) Weakness in the muscles of the lower legs, feet, lower arms, and hands (later in the disease) Exams and Tests Tests may include: Blood creatine kinase levels DNA testing (molecular genetic testing) Echocardiogram or ECG Electromyogram (EMG) testing Muscle biopsy Treatment There are no known treatments that reverse the muscle weakness. Gene therapy may become available in the future. Supportive treatment can decrease the complications of the disease. The condition is managed based on the person's symptoms. It includes: Heart monitoring Mobility aids Physical therapy Respiratory care Weight control Surgery is sometimes needed for any bone or joint problems. Support Groups The Muscular Dystrophy Association is an excellent resource: www.mda.org Outlook (Prognosis) In general, people tend to have weakness that slowly gets worse in affected muscles and spreads. The disease causes loss of movement. The person may be dependent on a wheelchair within 20 to 30 years. Heart muscle weakness and abnormal electrical activity of the heart can increase the risk for palpitations, fainting, and sudden death. Most people with this group of diseases live into adulthood, but do not reach their full life expectancy. Possible Complications People with limb-girdle muscular dystrophies may experience complications such as: Abnormal heart rhythms Contractures of the joints Difficulties with activities of daily living due to shoulder weakness Progressive weakness, which may lead to needing a wheelchair When to Contact a Medical Professional Call your health care provider if you or your child feels weak while rising from a squatting position. Call a geneticist if you or a family member has been diagnosed with muscular dystrophy and you are planning a pregnancy. Prevention Genetic counseling is now offered to affected individuals and their families. Soon molecular testing will involve whole genome sequencing on patients and their relatives to better establish the diagnosis. Genetic counseling may help some couples and families learn about the risks and help with family planning. It also allows connecting patients with diseases registries and patient organizations. Some of the complications can be prevented with appropriate treatment. For example, a cardiac pacemaker or defibrillator can greatly reduce the risk for sudden death due to an abnormal heart rhythm. Physical therapy may be able to prevent or delay contractures and improve quality of life. Affected people may want to do DNA banking. DNA testing is recommended for those who are affected. This helps to identify the family gene mutation. Once the mutation is found, prenatal DNA testing, testing for carriers, and pre-implantation genetic diagnosis are possible. Review Date 11/22/2017 Updated by: Luc Jasmin, MD, PhD, FRCS (C), FACS, Department of Surgery at Providence Medical Center, Medford OR; Department of Surgery at Ashland Community Hospital, Ashland OR; Department of Maxillofacial Surgery at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | {
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Management depends on each individual and the specific type of LGMD that the individual has. However, the American Academy of Neurology has developed guidelines for treatment of LGMD including: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles) Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications, such as foot deformity and scoliosis cardiomyopathy A team approach to treatment is recommended including a neurologist , pulmonologist , cardiologist , orthopedic surgeon, physiatrist , physical/occupational/ speech therapist , nutritionist , orthopedist , mental health counselors, and geneticist / genetic counselor . While not a currently available treatment option, some studies have shown promising results with the use of gene therapy . More research is needed to prove the safety and efficacy of this treatment approach. | Limb-girdle muscular dystrophy Limb girdle muscular dystrophy LGMD Summary Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. [1] Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. [2] While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. [3] There are at least 20 different types of limb-girdle muscular dystrophy. [1] Inheritance Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families. Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition. [4] Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources Orphanet lists international laboratories offering diagnostic testing for this condition. Treatment Unfortunately, no definitive treatments for LGMD exist. Management depends on each individual and the specific type of LGMD that the individual has. However, the American Academy of Neurology has developed guidelines for treatment of LGMD including: [5] [6] Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles) Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications, such as foot deformity and scoliosis cardiomyopathy A team approach to treatment is recommended including a neurologist , pulmonologist , cardiologist , orthopedic surgeon, physiatrist , physical/occupational/ speech therapist , nutritionist , orthopedist , mental health counselors, and geneticist / genetic counselor . [5] [6] While not a currently available treatment option, some studies have shown promising results with the use of gene therapy . More research is needed to prove the safety and efficacy of this treatment approach. [6] Management Guidelines The American Academy of Neurology (AAN), the medical specialty society of neurologists, offers a summary of recommended guidelines for Limb-girdle muscular dystrophy Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety. Related Diseases Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet The differential diagnosis of LGMD includes facioscapulohumeral muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, polymyositis, myotonic, myofibrillar, distal and metabolic myopathy, collagen 6-related disorders and dermatomyosistis. Visit the Orphanet disease page for more information. Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | {
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Management depends on each individual and the specific type of LGMD that the individual has. However, the American Academy of Neurology has developed guidelines for treatment of LGMD including: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles) Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications, such as foot deformity and scoliosis cardiomyopathy A team approach to treatment is recommended including a neurologist , pulmonologist , cardiologist , orthopedic surgeon, physiatrist , physical/occupational/ speech therapist , nutritionist , orthopedist , mental health counselors, and geneticist / genetic counselor . While not a currently available treatment option, some studies have shown promising results with the use of gene therapy . More research is needed to prove the safety and efficacy of this treatment approach. | Limb-girdle muscular dystrophy Limb girdle muscular dystrophy LGMD Summary Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. [1] Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. [2] While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. [3] There are at least 20 different types of limb-girdle muscular dystrophy. [1] Inheritance Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families. Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition. [4] Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources Orphanet lists international laboratories offering diagnostic testing for this condition. Treatment Unfortunately, no definitive treatments for LGMD exist. Management depends on each individual and the specific type of LGMD that the individual has. However, the American Academy of Neurology has developed guidelines for treatment of LGMD including: [5] [6] Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles) Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications, such as foot deformity and scoliosis cardiomyopathy A team approach to treatment is recommended including a neurologist , pulmonologist , cardiologist , orthopedic surgeon, physiatrist , physical/occupational/ speech therapist , nutritionist , orthopedist , mental health counselors, and geneticist / genetic counselor . [5] [6] While not a currently available treatment option, some studies have shown promising results with the use of gene therapy . More research is needed to prove the safety and efficacy of this treatment approach. [6] Management Guidelines The American Academy of Neurology (AAN), the medical specialty society of neurologists, offers a summary of recommended guidelines for Limb-girdle muscular dystrophy Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety. Related Diseases Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet The differential diagnosis of LGMD includes facioscapulohumeral muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, polymyositis, myotonic, myofibrillar, distal and metabolic myopathy, collagen 6-related disorders and dermatomyosistis. Visit the Orphanet disease page for more information. Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | Stem Cell Therapy for Muccular Dystrophy I have read the Medline Abstracts 98,99 of 'Limb-girdle muscular dystrophy'. Please could you tell me how I contact a specialist to enquire further with this...Thank you... | {
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Your provider may recommend that you do the following: - Avoid activities that cause pain. - Put ice on the heel several times a day. - Take nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen. - Try using over-the-counter or custom heel wedges in your shoe to help decrease stress on the heel. - Try ultrasound treatment during physical therapy to reduce inflammation. Have physical therapy to improve flexibility and strength around the ankle. The focus will be on stretching your Achilles tendon. This can help the bursitis improve and prevent it from coming back. If these treatments DO NOT work, your provider may inject a small amount of steroid medicine into the bursa. After the injection, you should avoid overstretching the tendon because it can break open (rupture). If the condition is connected to Achilles tendinitis, you may need to wear a cast on the ankle for several weeks. Very rarely, surgery may be needed to remove the inflamed bursa. This condition most often gets better in several weeks with the proper treatment. Call your provider if you have heel pain or symptoms of retrocalcaneal bursitis that DO NOT improve with rest. Things you can do to prevent the problem include: - Use proper form when exercising. - Maintain as good flexibility and strength around the ankle to help prevent this condition. - Stretch the Achilles tendon to help prevent injury. - Wear shoes with enough arch support to decrease the amount of stress on the tendon and inflammation in the bursa. | Bursitis of the heel Insertional heel pain Retrocalcaneal bursitis Summary Bursitis of the heel is swelling of the fluid-filled sac (bursa) at the back of the heel bone. Causes A bursa acts as a cushion and lubricant between tendons or muscles sliding over bone. There are bursas around most large joints in the body, including the ankle. The retrocalcaneal bursa is located in the back of the ankle by the heel. It is where the large Achilles tendon connects the calf muscles to the heel bone. Repeated or too much use of the ankle can cause this bursa to become irritated and inflamed. It may be caused by too much walking, running, or jumping. This condition is very often linked to Achilles tendinitis. Sometimes retrocalcaneal bursitis may be mistaken for Achilles tendinitis. Risks for this condition include: Starting a very intense workout schedule Suddenly increasing activity level without the right conditioning Changes in activity level History of arthritis that is caused by inflammation Symptoms Symptoms include: Pain in the heel, especially with walking, running, or when the area is touched Pain may get worse when rising on the toes (standing on tiptoes) Red, warm skin over the back of the heel Exams and Tests Your health care provider will take a history to find out if you have symptoms of retrocalcaneal bursitis. An exam will be done to find the location of the pain. The provider will also look for tenderness and redness in the back of the heel. The pain may be worse when your ankle is bent upward (dorsiflex). Or, the pain may be worse when you rise on your toes. Most of the time, you will not need imaging studies such as x-ray and MRI at first. You may need these tests later if the first treatments DO NOT lead to improvement. Inflammation may show on a MRI. Treatment Your provider may recommend that you do the following: Avoid activities that cause pain. Put ice on the heel several times a day. Take nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen. Try using over-the-counter or custom heel wedges in your shoe to help decrease stress on the heel. Try ultrasound treatment during physical therapy to reduce inflammation. Have physical therapy to improve flexibility and strength around the ankle. The focus will be on stretching your Achilles tendon. This can help the bursitis improve and prevent it from coming back. If these treatments DO NOT work, your provider may inject a small amount of steroid medicine into the bursa. After the injection, you should avoid overstretching the tendon because it can break open (rupture). If the condition is connected to Achilles tendinitis, you may need to wear a cast on the ankle for several weeks. Very rarely, surgery may be needed to remove the inflamed bursa. Outlook (Prognosis) This condition most often gets better in several weeks with the proper treatment. When to Contact a Medical Professional Call your provider if you have heel pain or symptoms of retrocalcaneal bursitis that DO NOT improve with rest. Prevention Things you can do to prevent the problem include: Use proper form when exercising. Maintain as good flexibility and strength around the ankle to help prevent this condition. Stretch the Achilles tendon to help prevent injury. Wear shoes with enough arch support to decrease the amount of stress on the tendon and inflammation in the bursa. Review Date 9/22/2016 Updated by: C. Benjamin Ma, MD, Assistant Professor, Chief, Sports Medicine and Shoulder Service, UCSF Department of Orthopaedic Surgery, San Francisco, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Subcutaneous retrocalcaneal bursitis Haglund's deformity of the calcaneum. I have this problem. Can you please help to overcome this? | Subcutaneous retrocalcaneal bursitis Haglund's deformity of the calcaneum. I have this problem. Can you please help to overcome this? | {
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Your provider may recommend that you do the following: - Avoid activities that cause pain. - Put ice on the heel several times a day. - Take nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen. - Try using over-the-counter or custom heel wedges in your shoe to help decrease stress on the heel. - Try ultrasound treatment during physical therapy to reduce inflammation. Have physical therapy to improve flexibility and strength around the ankle. The focus will be on stretching your Achilles tendon. This can help the bursitis improve and prevent it from coming back. If these treatments DO NOT work, your provider may inject a small amount of steroid medicine into the bursa. After the injection, you should avoid overstretching the tendon because it can break open (rupture). If the condition is connected to Achilles tendinitis, you may need to wear a cast on the ankle for several weeks. Very rarely, surgery may be needed to remove the inflamed bursa. | Bursitis of the heel Insertional heel pain Retrocalcaneal bursitis Summary Bursitis of the heel is swelling of the fluid-filled sac (bursa) at the back of the heel bone. Causes A bursa acts as a cushion and lubricant between tendons or muscles sliding over bone. There are bursas around most large joints in the body, including the ankle. The retrocalcaneal bursa is located in the back of the ankle by the heel. It is where the large Achilles tendon connects the calf muscles to the heel bone. Repeated or too much use of the ankle can cause this bursa to become irritated and inflamed. It may be caused by too much walking, running, or jumping. This condition is very often linked to Achilles tendinitis. Sometimes retrocalcaneal bursitis may be mistaken for Achilles tendinitis. Risks for this condition include: Starting a very intense workout schedule Suddenly increasing activity level without the right conditioning Changes in activity level History of arthritis that is caused by inflammation Symptoms Symptoms include: Pain in the heel, especially with walking, running, or when the area is touched Pain may get worse when rising on the toes (standing on tiptoes) Red, warm skin over the back of the heel Exams and Tests Your health care provider will take a history to find out if you have symptoms of retrocalcaneal bursitis. An exam will be done to find the location of the pain. The provider will also look for tenderness and redness in the back of the heel. The pain may be worse when your ankle is bent upward (dorsiflex). Or, the pain may be worse when you rise on your toes. Most of the time, you will not need imaging studies such as x-ray and MRI at first. You may need these tests later if the first treatments DO NOT lead to improvement. Inflammation may show on a MRI. Treatment Your provider may recommend that you do the following: Avoid activities that cause pain. Put ice on the heel several times a day. Take nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen. Try using over-the-counter or custom heel wedges in your shoe to help decrease stress on the heel. Try ultrasound treatment during physical therapy to reduce inflammation. Have physical therapy to improve flexibility and strength around the ankle. The focus will be on stretching your Achilles tendon. This can help the bursitis improve and prevent it from coming back. If these treatments DO NOT work, your provider may inject a small amount of steroid medicine into the bursa. After the injection, you should avoid overstretching the tendon because it can break open (rupture). If the condition is connected to Achilles tendinitis, you may need to wear a cast on the ankle for several weeks. Very rarely, surgery may be needed to remove the inflamed bursa. Outlook (Prognosis) This condition most often gets better in several weeks with the proper treatment. When to Contact a Medical Professional Call your provider if you have heel pain or symptoms of retrocalcaneal bursitis that DO NOT improve with rest. Prevention Things you can do to prevent the problem include: Use proper form when exercising. Maintain as good flexibility and strength around the ankle to help prevent this condition. Stretch the Achilles tendon to help prevent injury. Wear shoes with enough arch support to decrease the amount of stress on the tendon and inflammation in the bursa. Review Date 9/22/2016 Updated by: C. Benjamin Ma, MD, Assistant Professor, Chief, Sports Medicine and Shoulder Service, UCSF Department of Orthopaedic Surgery, San Francisco, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Subcutaneous retrocalcaneal bursitis Haglund's deformity of the calcaneum. I have this problem. Can you please help to overcome this? | Subcutaneous retrocalcaneal bursitis Haglund's deformity of the calcaneum. I have this problem. Can you please help to overcome this? | {
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Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. | Macular Degeneration Age-related macular degeneration AMD Summary Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute subjective vertigo Can macular degeneration in only one eye cause dizziness? | subjective vertigo Can macular degeneration in only one eye cause dizziness? | {
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