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symptoms | What are the symptoms of Focal facial dermal dysplasia ? | What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Hereditary sensory neuropathy type 1 ? | What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Distal sensory loss of all modalities - Hyporeflexia - Osteomyelitis - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Pes cavus - Sensorineural hearing impairment - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
frequency | How many people are affected by proopiomelanocortin deficiency ? | POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to familial hyperaldosteronism ? | The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I. Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III. The genetic cause of familial hyperaldosteronism type II is unknown. |
information | What is (are) Breast Diseases ? | Most women experience breast changes at some time. Your age, hormone levels, and medicines you take may cause lumps, bumps, and discharges (fluids that are not breast milk). If you have a breast lump, pain, discharge or skin irritation, see your health care provider. Minor and serious breast problems have similar symptoms. Although many women fear cancer, most breast problems are not cancer. Some common breast changes are - Fibrocystic breast changes - lumpiness, thickening and swelling, often just before a woman's period - Cysts - fluid-filled lumps - Fibroadenomas - solid, round, rubbery lumps that move easily when pushed, occurring most in younger women - Intraductal papillomas - growths similar to warts near the nipple - Blocked milk ducts - Milk production when a woman is not breastfeeding NIH: National Cancer Institute |
treatment | What are the treatments for laryngo-onycho-cutaneous syndrome ? | These resources address the diagnosis or management of laryngo-onycho-cutaneous syndrome: - Genetic Testing Registry: Laryngoonychocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | Do you have information about Kidney Transplantation | Summary : A kidney transplant is an operation that places a healthy kidney in your body. The transplanted kidney takes over the work of the two kidneys that failed, so you no longer need dialysis. During a transplant, the surgeon places the new kidney in your lower abdomen and connects the artery and vein of the new kidney to your artery and vein. Often, the new kidney will start making urine as soon as your blood starts flowing through it. But sometimes it takes a few weeks to start working. Many transplanted kidneys come from donors who have died. Some come from a living family member. The wait for a new kidney can be long. If you have a transplant, you must take drugs for the rest of your life, to keep your body from rejecting the new kidney. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
symptoms | What are the symptoms of Tracheoesophageal fistula ? | What are the signs and symptoms of Tracheoesophageal fistula? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheoesophageal fistula. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Esophageal atresia - Tracheoesophageal fistula - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is primary carnitine deficiency inherited ? | Primary carnitine deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder are carriers, which means they each carry one copy of the mutated gene. Carriers of SLC22A5 gene mutations may have some signs and symptoms related to the condition. |
genetic changes | What are the genetic changes related to 16p11.2 deletion syndrome ? | People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. The 600 kb region contains more than 25 genes, and in many cases little is known about their function. Researchers are working to determine how the missing genes contribute to the features of 16p11.2 deletion syndrome. |
frequency | How many people are affected by PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is a rare condition; however, the exact prevalence is unknown. |
outlook | What is the outlook for Schizencephaly ? | The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities. |
information | What is (are) Adrenoleukodystrophy ? | X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected. People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35. Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD. X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders. |
genetic changes | What are the genetic changes related to hepatic lipase deficiency ? | Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs) to LDLs. The enzyme also assists in transporting HDLs that carry cholesterol and triglycerides from the blood to the liver, where the HDLs deposit these fats so they can be redistributed to other tissues or removed from the body. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result, VLDLs and IDLs are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglycerides remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency. |
information | Do you have information about Diets | Summary : Your diet is made up of what you eat. A healthy diet - May include fruits, vegetables, whole grains, and fat-free or low-fat milk and milk products - May include lean meats, poultry, fish, beans, eggs and nuts - Goes easy on saturated fats, trans fat, cholesterol, salt (sodium), and added sugars There are many different types of diets. Some, like a vegetarian diet, don't include meats. Others, like the Mediterranean diet, describe a traditional way of eating of a specific region. And there are diets for people with certain health problems, such as diabetes and high blood pressure. Many people follow specific diets to lose weight. Some of these diets are fad or crash diets that severely restrict calories or the types of food you are allowed to eat. These diets rarely lead to permanent weight loss and often don't provide all of the nutrients your body needs. To lose weight, you need to use more calories than you eat. Portion control is the key. When trying to lose weight, you can still eat your favorite foods -- as long as you pay attention to the total number of calories that you eat. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
information | What is (are) Timothy syndrome ? | Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born with structural heart defects that affect the heart's ability to pump blood effectively. As a result of these serious heart problems, many people with Timothy syndrome live only into childhood. The most common cause of death is a form of arrhythmia called ventricular tachyarrhythmia, in which the lower chambers of the heart (the ventricles) beat abnormally fast and lead to cardiac arrest. Timothy syndrome is also characterized by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, frequent infections, episodes of low blood sugar (hypoglycemia), and an abnormally low body temperature (hypothermia). Researchers have found that many children with Timothy syndrome have the characteristic features of autism or similar conditions known as autistic spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Other nervous system abnormalities, including intellectual disability and seizures, can also occur in children with Timothy syndrome. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. |
symptoms | What are the symptoms of Pfeiffer Mayer syndrome ? | What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the pinna 90% Cognitive impairment 90% Optic atrophy 90% Preaxial hand polydactyly 90% Short stature 90% Chorioretinal coloboma 50% Iris coloboma 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Crigler Najjar syndrome, type 1 ? | Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals. |
exams and tests | How to diagnose Respiratory Distress Syndrome ? | Respiratory distress syndrome (RDS) is common in premature infants. Thus, doctors usually recognize and begin treating the disorder as soon as babies are born.
Doctors also do several tests to rule out other conditions that could be causing an infant's breathing problems. The tests also can confirm that the doctors have diagnosed the condition correctly.
The tests include:
Chest x ray. A chest x ray creates a of the structures inside the chest, such as the heart and lungs. This test can show whether your infant has signs of RDS. A chest x ray also can detect problems, such as a collapsed lung, that may require urgent treatment.
Blood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help find out whether an infection is causing the infant's breathing problems.
Echocardiography (echo). This test uses sound waves to create a moving picture of the heart. Echo is used to rule out heart defects as the cause of an infant's breathing problems. |
information | What is (are) Osteoporosis ? | A Bone Disease Osteoporosis is a disease that thins and weakens the bones to the point that they become fragile and break easily. Women and men with osteoporosis most often break bones in the hip, spine, and wrist, but any bone can be affected. You can't "catch" osteoporosis or give it to someone else. In the United States, more than 53 million people either already have osteoporosis or are at high risk due to low bone mass, placing them at risk for more serious bone loss and fractures. Although osteoporosis can strike at any age, it is most common among older people, especially older women. How Bone Loss Occurs Bone is living tissue. Throughout our lives, the body breaks down old bone and replaces it with new bone. But as people age, more bone is broken down than is replaced. The inside of a bone normally looks like a honeycomb, but when a person has osteoporosis, the spaces inside this honeycomb become larger, reflecting the loss of bone density and strength. (The word "osteoporosis" means "porous bone.") The outside of long bones -- called the cortex -- also thins, further weakening the bone. Sometime around the age of 30, bone mass stops increasing, and the goal for bone health is to keep as much bone as possible for as long as you can. In most women, the rate of bone loss increases for several years after menopause, then slows down again, but continues. In men, the bone loss occurs more slowly. But by age 65 or 70, most men and women are losing bone at the same rate. Weak Bones Can Lead to Fractures Osteoporosis is often called "silent" because bone loss occurs without symptoms. People may not know that they have osteoporosis until a sudden strain, bump, or fall causes a bone to break. This can result in a trip to the hospital, surgery, and possibly a long-term disabling condition. Broken bones in your spine are painful and very slow to heal. People with weak bones in their spine gradually lose height and their posture becomes hunched over. Over time a bent spine can make it hard to walk or even sit up. Broken hips are a very serious problem as we age. They greatly increase the risk of death, especially during the year after they break. People who break a hip might not recover for months or even years. Because they often cannot care for themselves, they are more likely to have to live in a nursing home. Prevention and Treatment The good news is that osteoporosis can often be prevented and treated. Healthy lifestyle choices such as proper diet, exercise, and treatment medications can help prevent further bone loss and reduce the risk of fractures. |
genetic changes | What are the genetic changes related to multicentric osteolysis, nodulosis, and arthropathy ? | MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it. The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA. Researchers suspect that it somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, resulting in a progressive loss of bone tissue. How a shortage of matrix metallopeptidase 2 leads to the other features of MONA, such as subcutaneous nodules and skin abnormalities, is unknown. |
symptoms | What are the symptoms of Rh Incompatibility ? | Rh incompatibility doesn't cause signs or symptoms in a pregnant woman. In a baby, the condition can lead to hemolytic anemia. Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them.
Red blood cells contain hemoglobin (HEE-muh-glow-bin), an iron-rich protein that carries oxygen to the body. Without enough red blood cells and hemoglobin, the baby won't get enough oxygen.
Hemolytic anemia can cause mild to severe signs and symptoms in a newborn, such as jaundice and a buildup of fluid.
Jaundice is a yellowish color of the skin and whites of the eyes. When red blood cells die, they release hemoglobin into the blood. The hemoglobin is broken down into a compound called bilirubin. This compound gives the skin and eyes a yellowish color. High levels of bilirubin can lead to brain damage in the baby.
The buildup of fluid is a result of heart failure. Without enough hemoglobin-carrying red blood cells, the baby's heart has to work harder to move oxygen-rich blood through the body. This stress can lead to heart failure.
Heart failure can cause fluid to build up in many parts of the body. When this occurs in a fetus or newborn, the condition is called hydrops fetalis (HI-drops fe-TAL-is).
Severe hemolytic anemia can be fatal to a newborn at the time of birth or shortly after. |
treatment | What are the treatments for Renal Cell Cancer ? | Key Points
- There are different types of treatment for patients with renal cell cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with renal cell cancer.
Different types of treatments are available for patients with renal cell cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
Five types of standard treatment are used:
Surgery Surgery to remove part or all of the kidney is often used to treat renal cell cancer. The following types of surgery may be used: - Partial nephrectomy: A surgical procedure to remove the cancer within the kidney and some of the tissue around it. A partial nephrectomy may be done to prevent loss of kidney function when the other kidney is damaged or has already been removed. - Simple nephrectomy: A surgical procedure to remove the kidney only. - Radical nephrectomy: A surgical procedure to remove the kidney, the adrenal gland, surrounding tissue, and, usually, nearby lymph nodes. A person can live with part of 1 working kidney, but if both kidneys are removed or not working, the person will need dialysis (a procedure to clean the blood using a machine outside of the body) or a kidney transplant (replacement with a healthy donated kidney). A kidney transplant may be done when the disease is in the kidney only and a donated kidney can be found. If the patient has to wait for a donated kidney, other treatment is given as needed. When surgery to remove the cancer is not possible, a treatment called arterial embolization may be used to shrink the tumor. A small incision is made and a catheter (thin tube) is inserted into the main blood vessel that flows to the kidney. Small pieces of a special gelatin sponge are injected through the catheter into the blood vessel. The sponges block the blood flow to the kidney and prevent the cancer cells from getting oxygen and other substances they need to grow. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat renal cell cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Kidney (Renal Cell) Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. The following types of biologic therapy are being used or studied in the treatment of renal cell cancer: - Nivolumab: Nivolumab is a monoclonal antibody that boosts the bodys immune response against renal cell cancer cells. - Interferon: Interferon affects the division of cancer cells and can slow tumor growth. - Interleukin-2 (IL-2): IL-2 boosts the growth and activity of many immune cells, especially lymphocytes (a type of white blood cell). Lymphocytes can attack and kill cancer cells. See Drugs Approved for Kidney (Renal Cell) Cancer for more information. Targeted therapy Targeted therapy uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Targeted therapy with antiangiogenic agents are used to treat advanced renal cell cancer. Antiangiogenic agents keep blood vessels from forming in a tumor, causing the tumor to starve and stop growing or to shrink. Monoclonal antibodies and kinase inhibitors are two types of antiangiogenic agents used to treat renal cell cancer. Monoclonal antibody therapy uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Monoclonal antibodies used to treat renal cell cancer attach to and block substances that cause new blood vessels to form in tumors. Kinase inhibitors stop cells from dividing and may prevent the growth of new blood vessels that tumors need to grow. An mTOR inhibitor is a type of kinase inhibitor. Everolimus and temsirolimus are mTOR inhibitors used to treat advanced renal cell cancer. See Drugs Approved for Kidney (Renal Cell) Cancer for more information.
New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options for Renal Cell Cancer
Stage I Renal Cell Cancer
Treatment of stage I renal cell cancer may include the following: - Surgery (radical nephrectomy, simple nephrectomy, or partial nephrectomy). - Radiation therapy as palliative therapy to relieve symptoms in patients who cannot have surgery. - Arterial embolization as palliative therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Stage II Renal Cell Cancer
Treatment of stage II renal cell cancer may include the following: - Surgery (radical nephrectomy or partial nephrectomy). - Surgery (nephrectomy), before or after radiation therapy. - Radiation therapy as palliative therapy to relieve symptoms in patients who cannot have surgery. - Arterial embolization as palliative therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Stage III Renal Cell Cancer
Treatment of stage III renal cell cancer may include the following: - Surgery (radical nephrectomy). Blood vessels of the kidney and some lymph nodes may also be removed. - Arterial embolization followed by surgery (radical nephrectomy). - Radiation therapy as palliative therapy to relieve symptoms and improve the quality of life. - Arterial embolization as palliative therapy. - Surgery (nephrectomy) as palliative therapy. - Radiation therapy before or after surgery (radical nephrectomy). - A clinical trial of biologic therapy following surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Stage IV and Recurrent Renal Cell Cancer
Treatment of stage IV and recurrent renal cell cancer may include the following: - Surgery (radical nephrectomy). - Surgery (nephrectomy) to reduce the size of the tumor. - Targeted therapy. - Biologic therapy. - Radiation therapy as palliative therapy to relieve symptoms and improve the quality of life. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV renal cell cancer and recurrent renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. |
outlook | What is the outlook for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? | Certain factors affect treatment options and prognosis (chance of recovery). The prognosis (chance of recovery) and treatment options depend on the following: - The type of ovarian cancer and how much cancer there is. - The stage and grade of the cancer. - Whether the patient has extra fluid in the abdomen that causes swelling. - Whether all of the tumor can be removed by surgery. - Whether there are changes in the BRCA1 or BRCA2 genes. - The patients age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). |
information | What is (are) Central Pontine Myelinolysis ? | Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. Through a mechanism that is only partly understood, the shift in water and brain molecules leads to the destruction of myelin, a substance that surrounds and protects nerve fibers. Nerve cells (neurons) can also be damaged. Certain areas of the brain are particularly susceptible to myelinolysis, especially the part of the brain stem called the pons. Some individuals will also have damage in other areas of the brain, which is called extrapontine myelinolysis (EPM). Experts estimate that 10 percent of those with CPM will also have areas of EPM.
The initial symptoms of myelinolysis, which begin to appear 2 to 3 days after hyponatremia is corrected, include a depressed level of awareness, difficulty speaking (dysarthria or mutism), and difficulty swallowing (dysphagia). Additional symptoms often arise over the next 1-2 weeks, including impaired thinking, weakness or paralysis in the arms and legs, stiffness, impaired sensation, and difficulty with coordination. At its most severe, myelinolysis can lead to coma, locked-in syndrome (which is the complete paralysis of all of the voluntary muscles in the body except for those that control the eyes), and death.
Although many affected people improve over weeks to months, some have permanent disability. Some also develop new symptoms later, including behavioral or intellectual impairment or movement disorders like parkinsonism or tremor.
Anyone, including adults and children, who undergoes a rapid rise in serum sodium is at risk for myelinolysis. Some individuals who are particularly vulnerable are those with chronic alcoholism and those who have had a liver transplant. Myelinolysis has occurred in individuals undergoing renal dialysis, burn victims, people with HIV-AIDS, people over-using water loss pills (diuretics), and women with eating disorders such as anorexia or bulimia. The risk for CPM is greater if the serum (blood) sodium was low for at least 2 days before correction. |
research | what research (or clinical trials) is being done for SUNCT Headache ? | The NINDS conducts a wide range of research on headache disorders. This research aims to discover ways to better diagnose, treat, and ultimately, prevent these disorders. |
prevention | How to prevent Parasites - Baylisascaris infection ? | Baylisascaris infection can be prevented by avoiding contact with raccoons and their feces. Washing your hands after working or playing outdoors is good practice for preventing a number of diseases.
Do not keep, feed, or adopt wild animals, including raccoons, as pets. Infection rarely causes symptoms in raccoons, so you cannot tell if a raccoon is infected by observing its behavior. Roundworm eggs passed in the feces of infected raccoons are not visible to the naked eye. Eggs can only be seen using a microscope.
You may discourage raccoons from living in and around your home or parks by taking these steps:
- prevent access to food
- keep trash containers tightly closed
- close off access to attics and basements
- keep sandboxes covered when not in use (raccoons may use sandboxes as a latrine)
- remove fish ponds -- they eat the fish and drink the water
- eliminate water sources
- remove bird feeders
- clear brush so raccoons are not likely to make a den on your property
Stay away from areas and materials that might be contaminated by raccoon feces. Raccoons typically defecate at the base of or in raised forks of trees, or on raised horizontal surfaces such as fallen logs, stumps, or large rocks. Raccoon feces also can be found on woodpiles, decks, rooftops, and in attics, garages, and haylofts. Feces usually are dark and tubular, have a pungent odor (usually worse than dog or cat feces), and often contain undigested seeds or other food items.
If you have found a raccoon latrine near your home, cleaning the area may prevent possible infection. Newly deposited eggs take at least 2-4 weeks to become infective. Prompt removal and destruction of raccoon feces will reduce risk for exposure and possible infection.
More on: Raccoon Latrine Clean-up [PDF, 111 KB, 1 page]
If you choose to clean the site yourself, care should be taken to avoid contaminating hands and clothes.
- Wear disposable gloves to help prevent cross contamination.
- Wear a N95-rated respirator if working in a confined space to prevent accidental ingestion of eggs or other harmful materials.
- Avoid stirring up dust and debris- you can lightly mist the latrine area with a little water from a spray bottle to reduce the amount of dust.
- Wear rubber boots that can be scrubbed or cover your shoes with disposable booties that can be thrown away, so that you do not bring eggs into your household.
- Feces and material contaminated with raccoon feces should be removed and burned, buried, or sent to a landfill.
- Most chemicals do not kill roundworm eggs; however, heat kills the eggs instantly.
- Treat feces-soiled decks, patios, and other surfaces with boiling water or a propane torch (please contact your local fire department for regulations and safety practices).
To help further reduce the risk of possible infection, wash your hands well with soap and warm running water. Clean/launder your clothes thoroughly with hot water and detergent.
More on: Handwashing
If you are cleaning an indoor raccoon latrine and are not able to use a propane torch, use a damp (but not wet) sponge to wipe the area with hot soapy water. Rinse your sponge frequently. After you are finished, flush dirty water down the toilet. Place the sponge in a plastic bag and put the plastic bag in the garbage.
Contact your local animal control office for additional assistance.
Dogs
Dogs may be infected with adult B. procyonis roundworms, but may not show symptoms. Have all pets de-wormed under a veterinarian's supervision and take precautions to avoid contact with their feces.
Exotic pets
Raccoons and dogs are not the only hosts of Baylisascaris. B. procyonis infection has also been documented in kinkajous. Other animals such as coatis may be susceptible. When wild animals are kept as pets, there can be a risk of disease transmission to humans. |
information | Do you have information about Medicines | Summary : You may need to take medicines every day, or only once in a while. Either way, you want to make sure that the medicines are safe and will help you get better. In the United States, the Food and Drug Administration is in charge of assuring the safety and effectiveness of both prescription and over-the-counter medicines. Even safe drugs can cause unwanted side effects or interactions with food or other medicines you may be taking. They may not be safe during pregnancy. To reduce the risk of reactions and make sure that you get better, it is important for you to take your medicines correctly and be careful when giving medicines to children. |
treatment | What are the treatments for complement component 2 deficiency ? | These resources address the diagnosis or management of complement component 2 deficiency: - Genetic Testing Registry: Complement component 2 deficiency - MedlinePlus Encyclopedia: Complement - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is swellings called spheroids in the axons of the brain, which are a sign of axon damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells are specialized brain cells that protect and maintain neurons. Damage to myelin and neurons is thought to contribute to many of the neurological signs and symptoms in people with ALSP. Symptoms of ALSP usually begin in a person's forties and worsen over time. Personality changes, including depression and a loss of social inhibitions, are among the earliest symptoms of ALSP. Affected individuals may develop memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, and focusing attention appropriately. Some people with ALSP have mild seizures, usually only when the condition begins. As ALSP progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Over time, motor skills are affected, and people with ALSP may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family, although almost all affected individuals ultimately become unable to walk, speak, and care for themselves. ALSP was previously thought to be two separate conditions, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD), both of which cause very similar white matter damage and cognitive and movement problems. POLD was thought to be distinguished by the presence of pigmented glial cells and an absence of spheroids; however, people with HDLS can have pigmented cells, too, and people with POLD can have spheroids. HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP. |
information | What is (are) Biliary Atresia ? | Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings.
Bile ducts in the liver, also called hepatic ducts, are tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. Bile is a fluid made by the liver that serves two main functions: carrying toxins and waste products out of the body and helping the body digest fats and absorb the fat-soluble vitamins A, D, E, and K.
With biliary atresia, bile becomes trapped, builds up, and damages the liver. The damage leads to scarring, loss of liver tissue, and cirrhosis. Cirrhosis is a chronic, or long lasting, liver condition caused by scar tissue and cell damage that makes it hard for the liver to remove toxins from the blood. These toxins build up in the blood and the liver slowly deteriorates and malfunctions. Without treatment, the liver eventually fails and the infant needs a liver transplant to stay alive.
The two types of biliary atresia are fetal and perinatal. Fetal biliary atresia appears while the baby is in the womb. Perinatal biliary atresia is much more common and does not become evident until 2 to 4 weeks after birth. Some infants, particularly those with the fetal form, also have birth defects in the heart, spleen, or intestines. |
information | What is (are) Headache ? | Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol. Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers. Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear. NIH: National Institute of Neurological Disorders and Stroke |
genetic changes | What are the genetic changes related to hypochondrogenesis ? | Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. |
frequency | How many people are affected by Farber lipogranulomatosis ? | Farber lipogranulomatosis is a rare disorder. About 80 cases have been reported worldwide. |
information | What is (are) Down Syndrome ? | Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development |
causes | What causes Kidney Disease ? | Kidney disease is most often caused by diabetes or high blood pressure. Each kidney contains about one million tiny filters made up of blood vessels. These filters are called glomeruli. Diabetes and high blood pressure damage these blood vessels, so the kidneys are not able to filter the blood as well as they used to. Usually this damage happens slowly, over many years. As more and more filters are damaged, the kidneys eventually stop working. |
information | What is (are) glycogen storage disease type V ? | Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases a protein called myoglobin, which is filtered through the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, and it is estimated that half of those individuals with GSDV who have myoglobinuria will develop life-threatening kidney failure. The signs and symptoms of GSDV can vary significantly in affected individuals. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. In most people with GSDV, the muscle weakness worsens over time; however, in about one-third of affected individuals, the muscle weakness is stable. Some people with GSDV experience mild symptoms such as poor stamina; others do not experience any symptoms. |
genetic changes | What are the genetic changes related to phosphoribosylpyrophosphate synthetase superactivity ? | Certain mutations in the PRPS1 gene cause PRS superactivity. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in producing purine and pyrimidine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. PRPP synthetase 1 and PRPP also play a key role in recycling purines from the breakdown of DNA and RNA, a faster and more efficient way of making purines available. In people with the more severe form of PRS superactivity, PRPS1 gene mutations change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme, resulting in a poorly regulated, overactive enzyme. In the milder form of PRS superactivity, the PRPS1 gene is overactive for reasons that are not well understood. PRPS1 gene overactivity increases the production of normal PRPP synthetase 1 enzyme, which increases the availability of PRPP. In both forms of the disorder, excessive amounts of purines are generated. Under these conditions, uric acid, a waste product of purine breakdown, accumulates in the body. A buildup of uric acid crystals can cause gout, kidney stones, and bladder stones. It is unclear how PRPS1 gene mutations are related to the neurological problems associated with the severe form of PRS superactivity. |
information | What is (are) Thrombotic Thrombocytopenic Purpura ? | Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body.
The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop.
The increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding.
With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal.
"Thrombotic" (throm-BOT-ik) refers to the blood clots that form. "Thrombocytopenic" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. "Purpura" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin.
Bleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.
Purpura and Petechiae
TTP also can cause red blood cells to break apart faster than the body can replace them. This leads to hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh)a rare form of anemia. Anemia is a condition in which the body has a lower than normal number of red blood cells.
A lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes TTP. The ADAMTS13 gene controls the enzyme, which is involved in blood clotting. The enzyme breaks up a large protein called von Willebrand factor that clumps together with platelets to form blood clots.
Types of Thrombotic Thrombocytopenic Purpura
The two main types of TTP are inherited and acquired. "Inherited" means the condition is passed from parents to children through genes. This type of TTP mainly affects newborns and children.
In inherited TTP, the ADAMTS13 gene is faulty and doesn't prompt the body to make a normal ADAMTS13 enzyme. As a result, enzyme activity is lacking or changed.
Acquired TTP is the more common type of the disorder. "Acquired" means you aren't born with the disorder, but you develop it. This type of TTP mostly occurs in adults, but it can affect children.
In acquired TTP, the ADAMTS13 gene isn't faulty. Instead, the body makes antibodies (proteins) that block the activity of the ADAMTS13 enzyme.
It's not clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include:
Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections
Some medical procedures, such as surgery and blood and marrow stem cell transplant
Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens
Quinine, which is a substance often found in tonic water and nutritional health products
If you have TTP, you may sometimes hear it referred to as TTPHUS. HUS, or hemolytic-uremic syndrome, is a disorder that resembles TTP, but is more common in children. Kidney problems also tend to be worse in HUS. Although some researchers think TTP and HUS are two forms of a single syndrome, recent evidence suggests that each has different causes.
Outlook
TTP is a rare disorder. It can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away.
TTP usually occurs suddenly and lasts for days or weeks, but it can continue for months. Relapses (or flareups) can occur in up to 60 percent of people who have the acquired type of TTP. Many people who have inherited TTP have frequent flareups that need to be treated.
Treatments for TTP include infusions of fresh frozen plasma and plasma exchange, also called plasmapheresis (PLAZ-ma-feh-RE-sis). These treatments have greatly improved the outlook of the disorder. |
treatment | What are the treatments for cone-rod dystrophy ? | These resources address the diagnosis or management of cone-rod dystrophy: - Cleveland Clinic: Eye Examinations: What to Expect - Genetic Testing Registry: CONE-ROD DYSTROPHY, AIPL1-RELATED - Genetic Testing Registry: Cone-rod dystrophy - Genetic Testing Registry: Cone-rod dystrophy 1 - Genetic Testing Registry: Cone-rod dystrophy 10 - Genetic Testing Registry: Cone-rod dystrophy 11 - Genetic Testing Registry: Cone-rod dystrophy 12 - Genetic Testing Registry: Cone-rod dystrophy 13 - Genetic Testing Registry: Cone-rod dystrophy 15 - Genetic Testing Registry: Cone-rod dystrophy 16 - Genetic Testing Registry: Cone-rod dystrophy 17 - Genetic Testing Registry: Cone-rod dystrophy 18 - Genetic Testing Registry: Cone-rod dystrophy 19 - Genetic Testing Registry: Cone-rod dystrophy 2 - Genetic Testing Registry: Cone-rod dystrophy 20 - Genetic Testing Registry: Cone-rod dystrophy 21 - Genetic Testing Registry: Cone-rod dystrophy 3 - Genetic Testing Registry: Cone-rod dystrophy 5 - Genetic Testing Registry: Cone-rod dystrophy 6 - Genetic Testing Registry: Cone-rod dystrophy 7 - Genetic Testing Registry: Cone-rod dystrophy 8 - Genetic Testing Registry: Cone-rod dystrophy 9 - Genetic Testing Registry: Cone-rod dystrophy X-linked 3 - Genetic Testing Registry: Cone-rod dystrophy, X-linked 1 - MedlinePlus Encyclopedia: Color Vision Test - MedlinePlus Encyclopedia: Visual Acuity Test - MedlinePlus Encyclopedia: Visual Field Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
symptoms | What are the symptoms of Keratoderma palmoplantar deafness ? | What are the signs and symptoms of Keratoderma palmoplantar deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Hearing impairment - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Lymphocytic vasculitis ? | What causes lymphocytic vasculitis? Lymphocytic vasculitis is thought to be caused by a number of different factors, such as infection, trauma, drug reaction, or an underlying condition such as arthritis. Because this condition is rare and not yet well understood, it is believed that a full list of possible causes has yet to be assembled. |
treatment | What are the treatments for Inflammatory Myopathies ? | The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. This is most often given as an oral medication but can be delivered intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. IBM has no standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs. |
frequency | How many people are affected by hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. |
symptoms | What are the symptoms of Respiratory Failure ? | The signs and symptoms of respiratory failure depend on its underlying cause and the levels of oxygen and carbon dioxide in the blood.
A low oxygen level in the blood can cause shortness of breath and air hunger (feeling like you can't breathe in enough air). If the level of oxygen is very low, it also can cause a bluish color on the skin, lips, and fingernails. A high carbon dioxide level can cause rapid breathing and confusion.
Some people who have respiratory failure may become very sleepy or lose consciousness. They also may develop arrhythmias (ah-RITH-me-ahs), or irregular heartbeats. These symptoms can occur if the brain and heart are not getting enough oxygen. |
information | What is (are) Hemangiopericytoma ? | Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body. |
treatment | What are the treatments for 3-hydroxyacyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Kidney Disease ? | When your kidneys fail, they are no longer able to filter blood and remove waste from your body well enough to maintain health. Kidney failure causes harmful waste and excess fluid to build up in your body. Your blood pressure may rise, and your hands and feet may swell. Since the kidneys are not working well, the goal is to find treatments that can replace kidney function in order to maintain health. There are two main options for this: dialysis and transplantation. |
causes | What causes Type 1 plasminogen deficiency ? | What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site. |
information | What is (are) Sinusitis ? | Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including - Acute, which lasts up to 4 weeks - Subacute, which lasts 4 to 12 weeks - Chronic, which lasts more than 12 weeks and can continue for months or even years - Recurrent, with several attacks within a year Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases |
inheritance | Is Brugada syndrome inherited ? | 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 has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. |
information | What is (are) Olivopontocerebellar Atrophy ? | Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain the cerebellum, pons, and inferior olives. OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated. http://www.ninds.nih.gov/disorders/msa/msa.htm
OPCA may also be found in the brains of individuals with prion disorders and inherited metabolic diseases. The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies. |
genetic changes | What are the genetic changes related to progressive external ophthalmoplegia ? | Progressive external ophthalmoplegia is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA or mtDNA. Progressive external ophthalmoplegia can result from mutations in several different genes. In some cases, mutations in the MT-TL1 gene, which is located in mtDNA, cause progressive external ophthalmoplegia. In other cases, mutations in nuclear DNA are responsible for the condition, particularly mutations in the POLG, SLC25A4, and C10orf2 genes. These genes are critical for mtDNA maintenance. Although the mechanism is unclear, mutations in any of these three genes lead to large deletions of mtDNA, ranging from 2,000 to 10,000 DNA building blocks (nucleotides). Researchers have not determined how deletions of mtDNA lead to the specific signs and symptoms of progressive external ophthalmoplegia, although the features of the condition are probably related to impaired oxidative phosphorylation. It has been suggested that eye muscles are commonly affected by mitochondrial defects because they are especially dependent on oxidative phosphorylation for energy. |
information | What is (are) Viral Infections ? | Viruses are capsules with genetic material inside. They are very tiny, much smaller than bacteria. Viruses cause familiar infectious diseases such as the common cold, flu and warts. They also cause severe illnesses such as HIV/AIDS, smallpox and hemorrhagic fevers. Viruses are like hijackers. They invade living, normal cells and use those cells to multiply and produce other viruses like themselves. This eventually kills the cells, which can make you sick. Viral infections are hard to treat because viruses live inside your body's cells. They are "protected" from medicines, which usually move through your bloodstream. Antibiotics do not work for viral infections. There are a few antiviral medicines available. Vaccines can help prevent you from getting many viral diseases. NIH: National Institute of Allergy and Infectious Diseases |
exams and tests | How to diagnose MTHFR gene mutation ? | Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a person with elevated homocysteine levels and one or more of the following, coronary artery disease venous thromboembolism stroke heart attack peripheral artery disease aneurysm high blood pressure recurrent pregnancy loss However, the American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions. The College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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. |
exams and tests | How to diagnose Respiratory Failure ? | Your doctor will diagnose respiratory failure based on your medical history, a physical exam, and test results. Once respiratory failure is diagnosed, your doctor will look for its underlying cause.
Medical History
Your doctor will ask whether you might have or have recently had diseases or conditions that could lead to respiratory failure.
Examples include disorders that affect the muscles, nerves, bones, or tissues that support breathing. Lung diseases and conditions also can cause respiratory failure.
For more information, go to "What Causes Respiratory Failure?"
Physical Exam
During the physical exam, your doctor will look for signs of respiratory failure and its underlying cause.
Respiratory failure can cause shortness of breath, rapid breathing, and air hunger (feeling like you can't breathe in enough air). Using a stethoscope, your doctor can listen to your lungs for abnormal sounds, such as crackling.
Your doctor also may listen to your heart for signs of an arrhythmia (irregular heartbeat). An arrhythmia can occur if your heart doesn't get enough oxygen.
Your doctor might look for a bluish color on your skin, lips, and fingernails. A bluish color means your blood has a low oxygen level.
Respiratory failure also can cause extreme sleepiness and confusion, so your doctor might check how alert you are.
Diagnostic Tests
To check the oxygen and carbon dioxide levels in your blood, you may have:
Pulse oximetry. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood.
Arterial blood gas test. This test measures the oxygen and carbon dioxide levels in your blood. A blood sample is taken from an artery, usually in your wrist. The sample is then sent to a laboratory, where its oxygen and carbon dioxide levels are measured.
A low level of oxygen or a high level of carbon dioxide in the blood (or both) is a possible sign of respiratory failure.
Your doctor may recommend other tests, such as a chest x ray, to help find the underlying cause of respiratory failure. A chest x ray is a painless test that takes pictures of the structures inside your chest, such as your heart, lungs, and blood vessels.
If your doctor thinks that you have an arrhythmia as a result of respiratory failure, he or she may recommend an EKG (electrocardiogram). An EKG is a simple, painless test that detects and records the heart's electrical activity. |
information | What is (are) Treatment Methods for Kidney Failure: Peritoneal Dialysis ? | The two types of peritoneal dialysis are continuous ambulatory peritoneal dialysisalso called CAPDand automated peritoneal dialysiswhich doctors sometimes call APD or continuous cycler-assisted peritoneal dialysis. After learning about the types of peritoneal dialysis, you can choose the type that best fits your schedule and lifestyle. If one schedule or type of peritoneal dialysis does not suit you, you can talk with your doctor about trying another type.
- Continuous ambulatory peritoneal dialysis does not require a machine. You can do it in any clean, well-lit place. The time period that the dialysis solution is in your belly is called the dwell time. With continuous ambulatory peritoneal dialysis, the dialysis solution stays in your belly for a dwell time of 4 to 6 hours, or more. Each exchange takes about 30 to 40 minutes. During an exchange, you can read, talk, watch television, or sleep. Usually, you change the dialysis solution at least four times a day and sleep with solution in your belly at night. You do not have to wake up and perform exchanges during the night. - Automated peritoneal dialysis uses a machine called a cycler to fill and empty your belly three to five times during the night while you sleep. In the morning, you begin one exchange with a daylong dwell time. You may do an additional exchange around the middle of the afternoon without the cycler to increase the amount of waste removed and reduce the amount of fluid left behind in your body.
If you weigh more than 175 pounds or if your peritoneum filters wastes slowly, you may need a combination of continuous ambulatory peritoneal dialysis and automated peritoneal dialysis. For example, some people use a cycler at night and perform one exchange during the day. Your health care team will help you determine the best schedule for you. |
genetic changes | What are the genetic changes related to otopalatodigital syndrome type 1 ? | Mutations in the FLNA gene cause otopalatodigital syndrome type 1. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell. A small number of mutations in the FLNA gene have been identified in people with otopalatodigital syndrome type 1. The mutations all result in changes to the filamin A protein in the region that binds to actin. The mutations responsible for otopalatodigital syndrome type 1 are described as "gain-of-function" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of otopalatodigital syndrome type 1. |
genetic changes | What are the genetic changes related to Aicardi syndrome ? | The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Genes on these chromosomes are also involved in other functions in the body. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Skewed X-inactivation sometimes occurs when there is a severe gene mutation in one of the X chromosomes in each cell. Because the cells where this chromosome is active will not be able to survive as well, X-inactivation will appear to be skewed. Skewed X-inactivation has been identified in girls with Aicardi syndrome, further supporting the idea that the disorder is caused by a mutation in a gene on the X chromosome. However, this gene has not been identified, and it is unknown how the genetic change that causes Aicardi syndrome results in the various signs and symptoms of this disorder. |
information | What is (are) Breast Cancer ? | One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. However, women whose cancer is diagnosed at a late stage, after it has spread to other parts of the body, have only a 23.3 percent chance of surviving 5 years. To learn more about what happens after treatment, see Surviving Cancer. |
information | What is (are) Mitochondrial DNA-associated Leigh syndrome ? | Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children. |
treatment | What are the treatments for Inclusion body myopathy 2 ? | How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.[5666] Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here. |
treatment | What are the treatments for Baylisascaris infection ? | How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred by the time treatment has started. Early diagnosis and treatment provide the best chance of recovery. |
inheritance | Is Tietz syndrome inherited ? | 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 has one parent with the condition. |
information | What is (are) Warthin tumor ? | Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to increase the chance of developing Warthin tumor. Treatment may consist of surgery to remove the tumor or careful observation to watch for changes in the tumor over time. |
genetic changes | What are the genetic changes related to ataxia neuropathy spectrum ? | Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the C10orf2 gene. The POLG gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). The C10orf2 gene provides instructions for making a protein called Twinkle. Pol and Twinkle function in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol and Twinkle are both integral to the process of DNA replication by which new copies of mtDNA are produced. Mutated pol or mutated Twinkle reduce mtDNA replication. Although the mechanisms are unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), and mutations in the C10orf2 gene often result in deletions of large regions of mtDNA (mtDNA deletion). MtDNA depletion or deletion occurs most commonly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of ataxia neuropathy spectrum. It is unclear what role mtDNA deletions play in the signs and symptoms of the condition. |
symptoms | What are the symptoms of Anti-plasmin deficiency, congenital ? | What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bruising susceptibility - Hemothorax - Joint hemorrhage - Persistent bleeding after trauma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
frequency | How many people are affected by 15q24 microdeletion ? | This condition is very rare; only a few dozen affected individuals have been identified. |
frequency | How many people are affected by Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At least 20 cases have been reported. |
information | What is (are) What I need to know about Cirrhosis ? | Cirrhosis* is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue replaces healthy liver tissue and blocks the normal flow of blood through the liver.
A healthy liver
- makes proteins - helps fight infections - cleans the blood - helps digest food - stores a form of sugar that your body uses for energy
A liver with too much scar tissue cannot work properly. You cannot live without a liver that works. But early treatment can control symptoms and keep cirrhosis from getting worse.
*See the Pronunciation Guide for tips on how to say the words in bold type. |
treatment | What are the treatments for Antisynthetase syndrome ? | What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures. |
information | Do you have information about Cervical Cancer Screening | Summary : The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. Cervical cancer screening is usually part of a woman's health checkup. There are two types of tests: the Pap test and the HPV test. For both, the doctor or nurse collects cells from the surface of the cervix. With the Pap test, the lab checks the sample for cancer cells or abnormal cells that could become cancer later. With the HPV test, the lab checks for HPV infection. HPV is a virus that spreads through sexual contact. It can sometimes lead to cancer. If your screening tests are abnormal, your doctor may do more tests, such as a biopsy. Cervical cancer screening has risks. The results can sometimes be wrong, and you may have unnecessary follow-up tests. There are also benefits. Screening has been shown to decrease the number of deaths from cervical cancer. You and your doctor should discuss your risk for cervical cancer, the pros and cons of the screening tests, at what age to start being screened, and how often to be screened. |
causes | What causes Kidney Stones in Adults ? | Kidney stones can form when substances in the urinesuch as calcium, oxalate, and phosphorusbecome highly concentrated. Certain foods may promote stone formation in people who are susceptible, but scientists do not believe that eating any specific food causes stones to form in people who are not susceptible. People who do not drink enough fluids may also be at higher risk, as their urine is more concentrated.
People who are at increased risk of kidney stones are those with
- hypercalciuria, a condition that runs in families in which urine contains unusually large amounts of calcium; this is the most common condition found in those who form calcium stones - a family history of kidney stones - cystic kidney diseases, which are disorders that cause fluid-filled sacs to form on the kidneys - hyperparathyroidism, a condition in which the parathyroid glands, which are four pea-sized glands located in the neck, release too much hormone, causing extra calcium in the blood - renal tubular acidosis, a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a persons blood to remain too acidic - cystinuria, a condition in which urine contains high levels of the amino acid cystine - hyperoxaluria, a condition in which urine contains unusually large amounts of oxalate - hyperuricosuria, a disorder of uric acid metabolism - gout, a disorder that causes painful swelling of the joints - blockage of the urinary tract - chronic inflammation of the bowel - a history of gastrointestinal (GI) tract surgery
Others at increased risk of kidney stones are people taking certain medications including
- diureticsmedications that help the kidneys remove fluid from the body - calcium-based antacids - the protease inhibitor indinavir (Crixivan), a medication used to treat HIV infection - the anti-seizure medication topiramate (Topamax) |
symptoms | What are the symptoms of Poikiloderma with neutropenia ? | What are the signs and symptoms of Poikiloderma with neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Poikiloderma with neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertelorism 5% Hypoplasia of midface 5% Malar flattening 5% Autosomal recessive inheritance - Blepharitis - Conjunctivitis - Neutropenia - Poikiloderma - Recurrent otitis media - Recurrent pneumonia - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is Barrett esophagus inherited ? | Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). One study found that some people with Barrett esophagus who go on to develop esophageal adenocarcinoma have changes (mutations) in the MSR1, ASCC1, and/or CTHRC1 genes. However, additional studies are needed to confirm these findings. |
genetic changes | What are the genetic changes related to essential thrombocythemia ? | The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition. The JAK2, MPL, and THPO genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. The TET2 gene provides instructions for making a protein whose function is unknown. The proteins produced from the JAK2, MPL, and THPO genes are part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. These proteins work together to turn on (activate) the JAK/STAT pathway, which promotes the proliferation of blood cells, particularly platelets and their precursor cells, megakaryocytes. Mutations in the JAK2, MPL, and THPO genes that are associated with essential thrombocythemia lead to overactivation of the JAK/STAT pathway. The abnormal activation of JAK/STAT signaling leads to overproduction of megakaryocytes, which results in an increased number of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia. Although mutations in the CALR and TET2 genes have been found in people with essential thrombocythemia, it is unclear how these gene mutations are involved in development of the condition. Some people with essential thrombocythemia do not have a mutation in any of the known genes associated with this condition. Researchers are working to identify other genes that may be involved in the condition. |
frequency | How many people are affected by Gaucher disease ? | Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent. |
information | What is (are) congenital mirror movement disorder ? | Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. People with congenital mirror movement disorder can have some difficulty with certain activities of daily living, particularly with those requiring different movements in each hand, such as typing on a keyboard. They may experience discomfort or pain in the upper limbs during prolonged use of the hands. The extent of the mirror movements in this disorder can vary, even within the same family. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements. The extent of the movements typically stay the same throughout the lifetime of an affected individual. Mirror movements can also occur in people who do not have congenital mirror movement disorder. Mild mirror movements are common during the normal development of young children and typically disappear before age 7. They can also develop later in life in people with neurodegenerative disorders such as Parkinson disease. Mirror movements may also be present in certain other conditions with a wider range of signs and symptoms (syndromes). |
genetic changes | What are the genetic changes related to Majeed syndrome ? | Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be involved in controlling inflammation and in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome. |
symptoms | What are the symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias ? | What are the signs and symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial hypoplasia, triphalangeal thumbs and hypospadias. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Aplasia/Hypoplasia of the radius 90% Mandibular prognathia 90% Micromelia 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Diastema - Hypoplasia of the radius - Hypospadias - Nonopposable triphalangeal thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected. In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Sideroblastic anemia pyridoxine-refractory autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Heterogeneous - Increased serum ferritin - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Afibrinogenemia ? | How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis. |
symptoms | What are the symptoms of Globozoospermia ? | What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Globozoospermia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is Congenital adrenal hyperplasia inherited ? | How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. |
outlook | What is the outlook for Dyslexia ? | For those with dyslexia, the prognosis is mixed. The disability affects such a wide range of people and produces such different symptoms and varying degrees of severity that predictions are hard to make. The prognosis is generally good, however, for individuals whose dyslexia is identified early, who have supportive family and friends and a strong self-image, and who are involved in a proper remediation program. |
treatment | What are the treatments for Heart Failure ? | Lifestyle changes to treat heart failure may include - reducing salt and fluid intake - following a heart healthy diet - adopting a plan to lose weight - quitting smoking - engaging in physical activity. reducing salt and fluid intake following a heart healthy diet adopting a plan to lose weight quitting smoking engaging in physical activity. |
outlook | What is the outlook for Hydranencephaly ? | The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more. |
exams and tests | How to diagnose Stenotrophomonas maltophilia infection ? | How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria. |
treatment | What are the treatments for Oculopharyngeal muscular dystrophy ? | How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive. |
frequency | How many people are affected by Lafora progressive myoclonus epilepsy ? | The prevalence of Lafora progressive myoclonus epilepsy is unknown. Although the condition occurs worldwide, it appears to be most common in Mediterranean countries (including Spain, France, and Italy), parts of Central Asia, India, Pakistan, North Africa, and the Middle East. |
exams and tests | How to diagnose Pigmented villonodular synovitis ? | How is pigmented villonodular synovitis diagnosed? Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. CT scan findings are additionally often diagnostic, though they might not show the extent of the disease. Other methods that might be utilized in the diagnostic process include joint aspiration, in which a needle is used to remove fluid from the joint and a biopsy, in which a small operation is completed to obtain a tissue sample. |
treatment | What are the treatments for X-linked lymphoproliferative disease ? | These resources address the diagnosis or management of XLP: - Children's Hospital of Philadelphia - Gene Review: Gene Review: Lymphoproliferative Disease, X-Linked - Genetic Testing Registry: Lymphoproliferative syndrome 1, X-linked - Genetic Testing Registry: Lymphoproliferative syndrome 2, X-linked - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - Merck Manual for Healthcare Professionals - XLP Research Trust: Immunoglobulin Replacement - XLP Research Trust: Preparing for Bone Marrow Transplant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
genetic changes | What are the genetic changes related to genitopatellar syndrome ? | Genitopatellar syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system. The mutations that cause genitopatellar syndrome occur near the end of the KAT6B gene and lead to the production of a shortened histone acetyltransferase enzyme. Researchers suspect that the shortened enzyme may function differently than the full-length version, altering the regulation of various genes during early development. However, it is unclear how these changes lead to the specific features of genitopatellar syndrome. |
treatment | What are the treatments for neurohypophyseal diabetes insipidus ? | These resources address the diagnosis or management of neurohypophyseal diabetes insipidus: - Genetic Testing Registry: Neurohypophyseal diabetes insipidus - MedlinePlus Encyclopedia: ADH - MedlinePlus Encyclopedia: Diabetes Insipidus - Central These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
symptoms | What are the symptoms of Penoscrotal transposition ? | What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Erdheim-Chester disease ? | Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur. |
information | What is (are) Charcot-Marie-Tooth disease type 4 ? | Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication. |
frequency | How many people are affected by Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature. |
information | What is (are) Stroke ? | There are two kinds of stroke. The most common kind of stroke is called ischemic stroke. It accounts for approximately 80 percent of all strokes. An ischemic stroke is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind of stroke is called hemorrhagic stroke. A hemorrhagic stroke is caused by a blood vessel that breaks and bleeds into the brain. |
causes | What causes Multifocal motor neuropathy ? | What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to further understand the cause of MMN is underway. |
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