Instruction: How bad can endometriosis get?

Response: Living with endometriosis (Summary): You have a condition called endometriosis. Symptoms of endometriosis include: - Heavy menstrual bleeding - Bleeding between periods - Problems getting pregnant Having this condition can interfere with your social and work life. No one knows what causes endometriosis. There is also no cure. However, there are different ways to treat the symptoms. These treatments can also help relieve menstrual pain. Learning how to manage your symptoms can make it easier to live with endometriosis. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: How bad can endometriosis get?

Response: Endometriosis (Other Endometriosis FAQs): - If I have endometriosis, will I be able to get pregnant? Among women with fertility problems, endometriosis may occur in as many as 50%.1 But exactly how endometriosis causes infertility is not clear. Some evidence suggests that infertility is related to the extent of the endometriosis patches, because the patches can distort the pelvic anatomy. This would make it difficult for sperm to travel to the ovary or a fertilized egg to travel to the uterus.2,3 Other evidence suggests that the inflammation in the abdomen may disrupt ovulation or fertilization, or that the endometrium may not develop properly, hampering the attachment of the embryo to the uterus. There are treatments for endometriosis-related infertility that may help women get pregnant even with endometriosis. - Is endometriosis the same as endometrial cancer? Endometriosis and endometrial cancer are not the same. The word "endometrium" describes the tissue that lines the inside of the uterus. Endometrial cancer is a type of cancer that affects the lining of the inside of the uterus. Endometriosis itself is not a form of cancer. - Can endometriosis lead to cancer? There is a slight increase in the risk of ovarian cancer among women with endometriosis, particularly among women who were diagnosed with the condition at an early age. However, it is unclear whether endometriosis causes ovarian cancer or if the two conditions share risk factors or disease mechanisms that make them more likely to occur together.3,4 In some cases, women with endometriosis also have breast cancer or non-Hodgkin's lymphoma. However, these situations are rare.5 - Does endometriosis ever go away? For about one-quarter of women diagnosed with endometriosis, endometriosis patches go away on their own.6 Also, after menopause, symptoms of endometriosis typically lessen because there is a drop in the woman's natural hormones and the growths gradually shrink. However, this is not true for all women. If a woman takes hormones for menopausal symptoms, both her pain symptoms and the growths may return. Women with endometriosis who are experiencing symptoms, especially after menopause, should talk with their health care providers about treatment options. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: I am 23yr boy,i have knock knees i want treatment. Please help me.

Response: Knock knees: Knock knees are condition in which the knees touch, but the ankles do not touch. The legs turn inward. Infants start out with bowlegs because of their folded position while in their mother's womb. The legs begin to straighten once the child starts to walk (at about 12 to 18 months). By age 3, the child becomes knock-kneed. When the child stands, the knees touch but the ankles are apart. By puberty, the legs straighten out and most children can stand with the knees and ankles touching (without forcing the position). Knock knees can also develop as a result of a medical problem or disease, such as: - Injury of the shinbone (only one leg will be knock-kneed) - Osteomyelitis (bone infection) - Overweight or obesity - Rickets (a disease caused by a lack of vitamin D) A health care provider will examine your child. Tests will be done if there are signs that knock knees are not a part of normal development. Knock knees are not treated in most cases. If the problem continues after age 7, the child may use a night brace. This brace is attached to a shoe. Surgery may be considered for knock knees that are severe and continue beyond late childhood. Children normally outgrow knock knees without treatment, unless it is caused by a disease. If surgery is needed, the results are most often good. Complications may include: - Difficulty walking (very rare) - Self-esteem changes related to cosmetic appearance of knock knees - If left untreated, knock knees can lead to early arthritis of the knee Call your provider if you think your child has knock knees. There is no known prevention for normal knock knees. Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: I am 23yr boy,i have knock knees i want treatment. Please help me.

Response: Knock knees (Treatment): Knock knees are not treated in most cases. If the problem continues after age 7, the child may use a night brace. This brace is attached to a shoe. Surgery may be considered for knock knees that are severe and continue beyond late childhood. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: I am 23yr boy,i have knock knees i want treatment. Please help me.

Response: Knock knees (Outlook (Prognosis)): Children normally outgrow knock knees without treatment, unless it is caused by a disease. If surgery is needed, the results are most often good. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: I have a fractured nose i need it fixed. its been broke for 3 years now

Response: Nose fracture: A nose fracture is a break in the bone or cartilage over the bridge, or in the sidewall or septum (structure that divides the nostrils) of the nose. A fractured nose is the most common fracture of the face. It most often occurs after an injury and often occurs with other fractures of the face. Nose injuries and neck injuries are often seen together. A blow that is forceful enough to injure the nose may be hard enough to injure the neck. Serious nose injuries cause problems that need a health care provider's attention right away. For example, damage to the cartilage can cause a collection of blood to form inside the nose. If this blood is not drained right away, it can cause an abscess or a permanent deformity that blocks the nose. It may lead to tissue death and cause the nose to collapse. For minor nose injuries, the provider may want to see the person within the first week after the injury to see if the nose has moved out of its normal shape. Sometimes, surgery may be needed to correct a nose or septum that has been bent out of shape by an injury. Symptoms may include: - Blood coming from the nose - Bruising around the eyes - Difficulty breathing through the nose - Misshapen appearance (may not be obvious until the swelling goes down) - Pain - Swelling The bruised appearance most often disappears after 2 weeks. If a nose injury happens: - Try to stay calm. - Breathe through your mouth and lean forward in a sitting position to keep blood from going down the back of your throat. - Squeeze the nostrils closed and hold pressure to stop the bleeding. - Apply cold compresses to your nose to reduce swelling. If possible, hold the compress so that there isn't too much pressure on the nose. - To help relieve pain, try acetaminophen (Tylenol). - DO NOT try to straighten a broken nose - DO NOT move the person if there is reason to suspect a head or neck injury Get medical help right away if: - Bleeding will not stop - Clear fluid keeps draining from the nose - You suspect a blood clot in the septum - You suspect a neck or head injury - The nose looks deformed or out of its usual shape - The person is having difficulty breathing Wear protective headgear while playing contact sports, or riding bicycles, skateboards, roller skates, or rollerblades. Use seat belts and appropriate car seats when driving. Updated by: Josef Shargorodsky, MD, MPH, Johns Hopkins University School of Medicine, Baltimore, MD. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: I have a fractured nose i need it fixed. its been broke for 3 years now

Response: Rhinoplasty: Rhinoplasty is surgery to repair or reshape the nose. Rhinoplasty can be performed under local or general anesthesia, depending on the exact procedure and the person's preference. It is performed in a surgeon's office, a hospital, or an outpatient surgery center. Complex procedures may require a short hospital stay. The procedure often takes 1 to 2 hours. It may take longer. With local anesthesia, the nose and the area around it are numbed. You will probably be lightly sedated, but awake during the surgery (relaxed and not feeling pain). General anesthesia allows you to sleep through the operation. The surgery is usually done through a cut (incision) made inside the nostrils. In some cases, the cut is made from outside, around the base of the nose. This type of cut is used to perform work on the tip of the nose or if you need a cartilage graft. If the nose needs to be narrowed, the incision may extend around the nostrils. Small incisions may be made on the side of the nose to break, and reshape the bone. A splint (metal or plastic) may be placed on the outside of the nose. This helps maintain the new shape of the bone when the surgery is finished. Soft plastic splints or nasal packs also may be placed in the nostrils. This helps keep the dividing wall between the air passages (septum) stable. Rhinoplasty is one of the most common plastic surgery procedures. It can be used to: - Reduce or increase the size of the nose - Change the shape of the tip or the nasal bridge - Narrow the opening of the nostrils - Change the angle between the nose and the upper lip - Correct a birth defect or injury - Help relieve some breathing problems Nose surgery is considered elective when it is done for cosmetic reasons. In these cases, the purpose is to change the shape of the nose to one that the person finds more desirable. Many surgeons prefer to perform cosmetic nose surgery after the nasal bone has finished growing. This is around age 14 or 15 for girls and a bit later for boys. Risks for anesthesia and surgery in general are: - Reactions to medicines, problems breathing - Bleeding, infection, or bruising Risks for this procedure include: - Loss of support of the nose - Contour deformities of the nose - Need for further surgery After surgery, tiny blood vessels that have burst may appear as tiny red spots on the skin surface. These are usually minor, but are permanent. There are no visible scars if the rhinoplasty is performed from inside the nose. If the procedure narrows flared nostrils, there may be small scars at the base of the nose that are not often visible. In rare cases, a second procedure is needed to fix a minor deformity. Your surgeon may give you instructions to follow before your surgery. You may need to: - Stop any medicines that thin your blood. Your surgeon will give you a list of these medicines. - See your regular health care provider to have some routine tests and make sure it is safe for you to have surgery. - To aid with healing, stop smoking 2 to 3 weeks before and after surgery. - Arrange to have someone drive you home after surgery. You will usually go home on the same day as your surgery. Right after surgery, your nose and face will be swollen and painful. Headaches are common. The nasal packing is usually removed in 3 to 5 days, after which you will feel more comfortable. The splint may be left in place for 1 to 2 weeks. Full recovery takes several weeks. Healing is a slow and gradual process. The tip of the nose may have some swelling and numbness for months. You may not be able to see the final results for up to a year. Updated by: David A. Lickstein, MD, FACS, specializing in cosmetic and reconstructive plastic surgery, Palm Beach Gardens, FL. 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

Response: Anal fissure (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 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

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


Instruction: 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

Response: Ingrown toenail (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

Response: 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 toenails can occurs when the edge of your toenail grows into the skin of the toe. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

Response: Ingrown toenail removal – discharge (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: I am suffering from Kartagener's syndrome and wanted information from you or from doctor . for this syndrome. (About fertility) and if possible other symptoms. Thank you.

Response: Kartagener syndrome (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: I am suffering from Kartagener's syndrome and wanted information from you or from doctor . for this syndrome. (About fertility) and if possible other symptoms. Thank you.

Response: Kartagener syndrome (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. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

Response: SLC4A1-associated distal renal tubular acidosis (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

Response: SLC4A1-associated distal renal tubular acidosis (Genetic Changes): 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

Response: Do I need to see a doctor for Distal renal tubular acidosis?: Call your health care provider if you have symptoms of distal renal tubular acidosis. Get medical help right away if you develop emergency symptoms such as: - Decreased consciousness - Seizures - Severe decrease in alertness or orientation. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Lewy body dementia: 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] The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Delusions - Dementia - Fluctuations in consciousness - Parkinsonism - Visual hallucinations - 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 ε4 allele and mutations in the GBA gene have been associated with an increased risk of Lewy body dementia and the APOE ε2 allele with a decreased risk. [5] [7] [2] 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] 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. 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Lewy body dementia (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]. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Lewy body dementia (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Tay-Sachs Disease: 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. 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Tay-Sachs disease (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: How many people are affected by critical congenital heart disease?: Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: My daughter has menkes syndrome and would like to know how to go about. Thx

Response: What is Menkes syndrome?: 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: My daughter has menkes syndrome and would like to know how to go about. Thx

Response: Menkes syndrome: In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism." 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. 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. 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. Tests may include: - Serum ceruloplasmin (substance that transports copper in the blood) - Serum copper level - Skin cell culture - X-ray of the skeleton or x-ray of the skull Genetic testing may show a change (mutation) in the ATP7A gene. 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. - Seizures - Death 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. 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. Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: My daughter has menkes syndrome and would like to know how to go about. Thx

Response: Menkes syndrome (Symptoms): Symptoms of Menkes syndrome are: - Bone spurs - Brittle, kinky hair - Feeding difficulties - Irritability - Lack of muscle tone, floppiness - Low body temperature - Mental deterioration - Pudgy, rosy cheeks - Seizures - Skeletal changes. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Cardiac amyloidosis (Summary): Cardiac amyloidosis is a disorder caused by deposits of an abnormal protein (amyloid) in the heart tissue. These deposits make it hard for the heart to work properly. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

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


Instruction: 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.

Response: 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

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


Instruction: 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

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


Instruction: 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

Response: Milroy disease: 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. Milroy disease is a rare disorder; its incidence is unknown. 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. 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. 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

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


Instruction: 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

Response: 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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

Response: EVC gene: 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. 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. 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. At least one mutation in the EVC gene has been found to cause the characteristic features of Weyers acrofacial dysostosis, affecting the development of the teeth, nails, and bones. The signs and symptoms of Weyers acrofacial dysostosis are similar to, but typically milder than, those of Ellis-van Creveld syndrome. The EVC gene mutation that causes Weyers acrofacial dysostosis occurs in one copy of the gene in each cell. It changes a single protein building block (amino acid) in the EVC protein, replacing the amino acid serine with the amino acid proline at position 307 (written as Ser307Pro). It is unclear how this genetic change leads to the specific features of Weyers acrofacial dysostosis. Studies suggest that the abnormal protein interferes with Sonic Hedgehog signaling in the developing embryo, disrupting the normal formation and growth of the teeth, nails, and bones. 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: What is Nephrotic Syndrome. What are its causes and cures?

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


Instruction: What is Nephrotic Syndrome. What are its causes and cures?

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


Instruction: What is Nephrotic Syndrome. What are its causes and cures?

Response: Chemotherapy: The term chemotherapy is used to describe cancer-killing drugs. Chemotherapy may be used to: - Cure the cancer - Shrink the cancer - Prevent the cancer from spreading - Relieve symptoms the cancer may be causing HOW CHEMOTHERAPY IS GIVEN Depending on the type of cancer and where it is found, chemotherapy drugs may be given different ways, including: - Injections or shots into the muscles - Injections or shots under the skin - Into an artery - Into a vein (intravenous, or IV) - Pills taken by mouth - Shots into the fluid around the spinal cord or brain When chemotherapy is given over a longer period, a thin catheter can be placed into a large vein near the heart. This is called a central line. The catheter is placed during a minor surgery. There are many types of catheters, including: - Central venous catheter - Central venous catheter with a port - Percutaneously inserted central catheter (PICC) A central line can stay in the body over a long period of time. It will need to be flushed on a weekly to monthly basis to prevent blood clots from forming inside the central line. Different chemotherapy drugs may be given at the same time or after each other. Radiation therapy may be received before, after, or during chemotherapy. Chemotherapy is most often given in cycles. These cycles may last 1 day, several days, or a few weeks or more. There will usually be a rest period when no chemotherapy is given between each cycle. A rest period may last for days, weeks, or months. This allows the body and blood counts to recover before the next dose. Often, chemotherapy is given at a special clinic or at the hospital. Some people are able to receive chemotherapy in their home. If home chemotherapy is given, home health nurses will help with the medicine and IVs. The person getting the chemotherapy and their family members will receive special training. DIFFERENT TYPES OF CHEMOTHERAPY The different types of chemotherapy include: - Standard chemotherapy, which works by killing cancer cells and some normal cells. - Targeted treatment and immunotherapy zero in on specific targets (molecules) in or on cancer cells. SIDE EFFECTS OF CHEMOTHERAPY Because these medicines travel through the blood to the entire body, chemotherapy is described as a bodywide treatment. As a result, chemotherapy may damage or kill some normal cells. These include bone marrow cells, hair follicles, and cells in the lining of the mouth and the digestive tract. When this damage occurs, there can be side effects. Some people who receive chemotherapy: - Are more likely to have infections - Become tired more easily - Bleed too much, even during everyday activities - Feel pain or numbness from nerve damage - Have a dry mouth, mouth sores, or swelling in the mouth - Have a poor appetite or lose weight - Have an upset stomach, vomiting, or diarrhea - Lose their hair - Have problems with thinking and memory ("chemo brain") Side effects of chemotherapy depend on many things, including the type of cancer and which drugs are being used. Each person reacts differently to these drugs. Some newer chemotherapy drugs that better target cancer cells may cause fewer or different side effects. Your health care provider will explain what you can do at home to prevent or treat side effects. These measures include: - Being careful with pets and other animals to avoid catching infections from them - Eating enough calories and protein to keep your weight up - Preventing bleeding, and what to do if bleeding occurs - Practicing safe eating and drinking habits - Washing your hands often with soap and water You will need to have follow-up visits with your provider during and after chemotherapy. Blood tests and imaging tests, such as x-rays, MRI, CT, or PET scans will be done to: - Monitor how well the chemotherapy is working - Watch for damage to the heart, lungs, kidneys, blood, and other parts of the body Updated by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists and Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: When and how do you know when you have congenital night blindness?

Response: autosomal recessive congenital stationary night blindness: 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 is likely a rare disease; however, its prevalence is unknown. 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. 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. 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-Saïd 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, Léveillard 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: When and how do you know when you have congenital night blindness?

Response: X-linked congenital stationary night blindness: 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] The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below. Signs and Symptoms Approximate number of patients (when available) Abnormality of macular pigmentation Frequent Nyctalopia Frequent Optic disc hypoplasia Frequent Reduced visual acuity Frequent Severe Myopia Frequent Nystagmus Occasional Strabismus Occasional Congenital stationary night blindness - Hemeralopia - X-linked recessive inheritance - 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. The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: When and how do you know when you have congenital night blindness?

Response: autosomal recessive congenital stationary night blindness (Genetic Changes): 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Oleander poisoning: 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). 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 ingredients include: - Digitoxigenin - Neriin - Oleandrin - Oleondroside Note: This list may not include all poisonous ingredients. The poisonous substances are found in all parts of the oleander plant: - Flowers - Leaves - Stems - Twigs 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. Seek immediate medical help. DO NOT make a person throw up unless told to do so by poison control or a health care provider. 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 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. 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 - EKG (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) 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. 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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Editorial update 10/26/2016. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: What are the symptoms of Oleander poisoning?: 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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.

Response: Oleander poisoning (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: Is optic atrophy ginetic and what cause it?

Response: Optic nerve atrophy: Optic nerve atrophy is damage to the optic nerve. The optic nerve carries images of what the eye sees to the brain. 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. 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. 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. 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. Vision lost to optic nerve atrophy cannot be recovered. It is very important to protect the other eye. 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. 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. 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: Is optic atrophy ginetic and what cause it?

Response: Optic atrophy 1: Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss , ataxia , myopathy (muscle disease) and other neurological findings. [1] It 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. [2] Treatment focuses on individual symptoms when possible. [1] The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below. Signs and Symptoms Approximate number of patients (when available) Ataxia Very rare Horizontal nystagmus Very rare Progressive external ophthalmoplegia Very rare Proximal muscle weakness Very rare Strabismus Very rare Abnormal amplitude of pattern reversal visual evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Incomplete penetrance - Insidious onset - Optic atrophy - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - Visual impairment - View complete list of signs and symptoms... The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. A thorough search of available literature provided very limited information about how optic atrophy 1 may affect life expectancy. A recent study discussed how extra-ocular neurological complications may be more common than previously thought in individuals with an OPA1 gene mutation and may affect up to 20% of individuals. The authors of the study described new clinical features including spastic paraplegia (stiffness of the legs) and a multiple sclerosis-like illness. [3] Ongoing research and follow-up of individuals with the condition may provide specific information about life expectancy in the future. Vision loss alone is not expected to substantially shorten the life span; however, severe neurological symptoms, when present, theoretically may contribute to a shortened life span in some individuals. The following diseases are related to Optic atrophy 1. If you have a question about any of these diseases, you can contact GARD. Dominant optic atrophy. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: Is optic atrophy ginetic and what cause it?

Response: optic atrophy type 1: 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. 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. 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. 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. 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/. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis?

Response: Rheumatoid Arthritis (What is it? Points To Remember About 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 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 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 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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: Are there any researches indicating how early an individual may experience any signs or symptoms of Rheumatoid Arthritis?

Response: Rheumatoid arthritis (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. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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?

Response: Polycystic ovarian syndrome (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]. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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?

Response: What is Polycystic ovary syndrome?: Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to changes in the menstrual cycle, cysts in the ovaries, trouble getting pregnant, and other health problems. If your symptoms worsen or feel concerning, seek help from a healthcare professional.


Instruction: 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?

Response: Polycystic ovary syndrome (What is polycystic ovary syndrome (PCOS)?): Polycystic (pah-lee-SIS-tik) ovary syndrome (PCOS), also known as polycystic ovarian syndrome, is a common health problem caused by an imbalance of reproductive hormones. The hormonal imbalance creates problems in the ovaries. The ovaries make the egg that is released each month as part of a healthy menstrual cycle. With PCOS, the egg may not develop as it should or it may not be released during ovulation as it should be. PCOS can cause missed or irregular menstrual periods. Irregular periods can lead to:. If your symptoms worsen or feel concerning, seek help from a healthcare professional.