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exams and tests | How to diagnose What I need to know about My Child's Urinary Tract Infection ? | Talk with your childs health care provider after your childs UTI is gone. The health care provider may want to do more tests to check for VUR or a blockage in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of infection. VUR and blockages in the urinary tract often go away as a child grows. In some cases, surgery may be needed to correct any defects in the urinary tract. More information about tests for VUR or a blockage in the urinary tract is provided in the NIDDK health topic, Urinary Tract Infections in Children. |
symptoms | What are the symptoms of Autoimmune atrophic gastritis ? | What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. It is often associated with impaired absorption of vitamin B12 and possibly other vitamin deficiencies (such as folate and iron). People with vitamin B12 deficiency are at risk for pernicious anemia, a condition in which the body does not have enough healthy red blood cells. Autoimmune atrophic gastritis is considered a "precancerous" condition and it may be responsible for the development of gastric adenocarcinoma or carcinoids. |
susceptibility | Who is at risk for Leukemia? ? | In many cases, no one knows why some people develop leukemia and others do not. However, scientists have identified some risk factors for the disease. A risk factor is anything that increases a person's chances of developing a disease. Most people who have known risk factors do not get leukemia, while many who do get the disease have none of these risk factors. Risk Factors Studies have identified the following risk factors for leukemia. - older age - male - white - working with certain chemicals - smoking - exposure to very high levels of radiation - certain health conditions - past treatment with chemotherapy or radiation therapy. older age male white working with certain chemicals smoking exposure to very high levels of radiation certain health conditions past treatment with chemotherapy or radiation therapy. More than 65 percent of people diagnosed with leukemia are over 55. Disorders and Genetic Diseases Certain disorders and genetic diseases, such as Down syndrome, may increase the risk of leukemia. About 3 out of 10 people with a blood disorder known as myelodysplastic syndrome develop acute myeloid leukemia. In this disorder, as in leukemia, abnormal cells are formed in the bone marrow and too few healthy blood cells enter the bloodstream. Radiation Exposure People exposed to very high levels of radiation, such as the atomic bomb blast in Hiroshima, Japan or nuclear power plant accidents, also are at risk of developing leukemia. Studies of atomic blasts have estimated that survivors have a five and a half times greater risk of developing leukemia than the general public. Cancer Treatments Chemotherapy and radiation therapy have been helpful to a lot of people in the treatment of many forms of cancer, and indeed are often lifesaving. However, these therapies have been linked to the development of second cancers, including leukemia, many years after treatment, particularly in people who received intensive therapy early in their lives. Chemotherapy for a first cancer is a stronger risk factor for developing leukemia later than is radiation therapy. The combination of chemotherapy and radiation can significantly increase the risk of leukemia after a first cancer. Powerful cancer-fighting chemotherapy drugs, known as alkylating agents and epipodophyllotoxins, have been associated with leukemia. The dose given and length of treatment as well as other factors may contribute to a person's risk of developing leukemia. Acute myeloid leukemia is the most common type of cancer that has been linked to chemotherapy treatment. Radiation therapy may increase a person's chance of developing leukemia. Several factors influence this risk, such as the dose of radiation administered. A person's age at the time of therapy does not seem to be a risk factor for leukemia. Recently, researchers have gained a much greater understanding of the risk of second cancers due to earlier treatment exposures. They have been able to limit the effective doses given in primary cases so as to reduce the risk of a recurrence or second cancer. |
frequency | How many people are affected by deafness-dystonia-optic neuronopathy syndrome ? | DDON syndrome is a rare disorder; it has been reported in fewer than 70 people worldwide. |
information | What is (are) Silver syndrome ? | Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia. The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life. |
inheritance | Is Ewing sarcoma inherited ? | Is Ewing sarcoma an inherited condition? This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception (somatic mutation). Most cases are considered to be sporadic. However, the incidence of neuroectodermal and stomach malignancies is increased among family members of patients with tumors of the Ewing sarcoma family. A search of the medical literature did identify a very small number of cases of Ewing sarcoma among siblings. To access articles on this topic, click here. |
frequency | How many people are affected by COL4A1-related brain small-vessel disease ? | COL4A1-related brain small-vessel disease is a rare condition, although the exact prevalence is unknown. At least 50 individuals with this condition have been described in the scientific literature. |
information | What is (are) Urinary Incontinence in Men ? | Urinary incontinence is the loss of bladder control, resulting in the accidental leakage of urine from the body. For example, a man may feel a strong, sudden need, or urgency, to urinate just before losing a large amount of urine, called urgency incontinence.
UI can be slightly bothersome or totally debilitating. For some men, the chance of embarrassment keeps them from enjoying many activities, including exercising, and causes emotional distress. When people are inactive, they increase their chances of developing other health problems, such as obesity and diabetes. |
treatment | What are the treatments for Aicardi syndrome ? | These resources address the diagnosis or management of Aicardi syndrome: - Baylor College of Medicine - Gene Review: Gene Review: Aicardi Syndrome - Genetic Testing Registry: Aicardi's 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 | What is (are) fragile X syndrome ? | Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty. |
inheritance | Is Camurati-Engelmann disease 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. |
inheritance | Is epidermal nevus inherited ? | This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation. Occasionally, the somatic mutation occurs in a person's reproductive cells (sperm or eggs) and is passed to the next generation. An inherited FGFR3 gene mutation is found in every cell in the body, which results in skeletal abnormalities rather than epidermal nevus. |
information | What is (are) oral-facial-digital syndrome ? | Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder. The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability. Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome. Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects. |
information | What is (are) Polyarteritis nodosa ? | Polyarteritis nodosa is a serious blood vessel disease in which medium-sized arteries become swollen and damaged. It occurs when certain immune cells attack the affected arteries preventing vital oxygen and nourishment. Signs and symptoms may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, and abdominal pain. The skin may show rashes, swelling, ulcers, and lumps. When nerve cells are involved numbness, pain, burning, and weakness may be present. Polyarteritis nodosa can cause serious health complications including strokes, seizures, and kidney failure. Treatment often includes steroids and other drugs to suppress the immune system. |
symptoms | What are the symptoms of Ring chromosome 10 ? | What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. 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 antihelix 90% Abnormality of the nipple 90% Abnormality of the nose 90% Aganglionic megacolon 90% Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Decreased body weight 90% Frontal bossing 90% Hypertelorism 90% Hypocalcemia 90% Intrauterine growth retardation 90% Large earlobe 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Pectus excavatum 90% Renal hypoplasia/aplasia 90% Sandal gap 90% Seizures 90% Short neck 90% Tapered finger 90% Thin vermilion border 90% 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) Limb dystonia ? | Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. Common examples of limb dystonia include writer's cramp and musician's dystonia. In most cases, the cause of limb dystonia remains unknown. Treatment is challenging. Botulinum toxin injection, oral medications, and physical therapy may help some patients. |
research | what research (or clinical trials) is being done for Spasticity ? | The NINDS supports research on brain and spinal cord disorders that can cause spasticity. The goals of this research are to increase scientific understanding about these disorders and to find ways to prevent, treat, and cure them. |
symptoms | What are the symptoms of Polymyositis ? | What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. In some cases, distal muscles may also be affected as the disease progresses. Other symptoms may include arthritis; shortness of breath; difficulty swallowing and speaking; mild joint or muscle tenderness; fatigue, and heart arrhythmias. |
information | What is (are) Small Intestine Disorders ? | Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. It has three areas called the duodenum, the ileum, and the jejunum. Problems with the small intestine can include: - Bleeding - Celiac disease - Crohn's disease - Infections - Intestinal cancer - Intestinal obstruction - Irritable bowel syndrome - Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause. |
information | What is (are) High Blood Cholesterol ? | LDL stands for low-density lipoproteins. (Lipoproteins are molecules that carry cholesterol through your bloodstream.) LDL cholesterol is sometimes called bad cholesterol because it can build up in the walls of your arteries and make them narrower. This buildup of cholesterol is called plaque. Over time, plaque can build up so much that it narrows your arteries. This is called atherosclerosis or hardening of the arteries. The higher the level of LDL cholesterol in your blood, the greater your chances of getting heart disease. |
causes | What causes Ewing sarcoma ? | What causes Ewing sarcoma? The exact cause of Ewing sarcoma remains largely unknown. Chromosomal studies have found that Ewing sarcoma cells are often characterized by an abnormal change in their genetic makeup known as a reciprocal translocation. The most common mutation, occurring in approximately 85% of Ewing sarcoma tumors, involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. This rearrangement of genetic material between chromosomes 22 and 11 fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. This mutation is acquired during a person's lifetime and is present only in tumor cells. This type of genetic change, called a somatic mutation, is not inherited. In extremely rare cases, Ewing sarcoma may develop as a second malignancy, which means that the condition develops as a late-onset complication of earlier treatment for another form of cancer. |
information | What is (are) Cogan-Reese syndrome ? | Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE syndrome, the mean age at diagnosis was 51-years. Known glaucoma was present in 11 (15%) of cases. [2] While it is not yet known how to keep Cogan-Reese syndrome from progressing, the glaucoma associated with the disease can be treated with medication. Additionally, corneal transplant can treat any corneal swelling. The National Eye Institute provides information on screening for glaucoma HERE. |
frequency | How many people are affected by Crigler-Najjar syndrome ? | Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million newborns worldwide. |
symptoms | What are the symptoms of Lubinsky syndrome ? | What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky 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) Abnormality of the testis 90% Cataract 90% Decreased fertility 90% Autosomal recessive inheritance - Elevated follicle stimulating hormone - Hypogonadism - Infertility - Male hypogonadism - 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) phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure. In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder. |
symptoms | What are the symptoms of Ambras syndrome ? | What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras 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) Autosomal dominant inheritance - Congenital, generalized hypertrichosis - 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) Muscle Disorders ? | Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. Causes of muscle disorders include - Injury or overuse, such as sprains or strains, cramps or tendinitis - A genetic disorder, such as muscular dystrophy - Some cancers - Inflammation, such as myositis - Diseases of nerves that affect muscles - Infections - Certain medicines Sometimes the cause is not known. |
treatment | What are the treatments for osteoporosis-pseudoglioma syndrome ? | These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis 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 Neuropathy ataxia retinitis pigmentosa syndrome ? | What are the signs and symptoms of Neuropathy ataxia retinitis pigmentosa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy ataxia retinitis pigmentosa 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) Ataxia - Blindness - Corticospinal tract atrophy - Dementia - Mitochondrial inheritance - Mitochondrial myopathy - Myopathy - Nystagmus - Proximal muscle weakness - Retinal pigment epithelial mottling - Rod-cone dystrophy - Seizures - Sensory neuropathy - 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 Bjrnstad syndrome ? | These resources address the diagnosis or management of Bjrnstad syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children: Screening and Diagnosis - Genetic Testing Registry: Pili torti-deafness 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 |
genetic changes | What are the genetic changes related to glycogen storage disease type I ? | Mutations in two genes, G6PC and SLC37A4, cause GSDI. G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body. Mutations in the G6PC and SLC37A4 genes prevent the effective breakdown of glucose 6-phosphate. Glucose 6-phosphate that is not broken down to glucose is converted to glycogen and fat so it can be stored within cells. Too much glycogen and fat stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI. |
information | What is (are) Adult Acute Myeloid Leukemia ? | Key Points
- Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. - Leukemia may affect red blood cells, white blood cells, and platelets. - There are different subtypes of AML. - Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. - Signs and symptoms of adult AML include fever, feeling tired, and easy bruising or bleeding. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult AML. - Certain factors affect prognosis (chance of recovery) and treatment options.
Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets.
Adult acute myeloid leukemia (AML) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. It is the most common type of acute leukemia in adults. AML is also called acute myelogenous leukemia, acute myeloblastic leukemia, acute granulocytic leukemia, and acute nonlymphocytic leukemia.
Leukemia may affect red blood cells, white blood cells, and platelets.
Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. In AML, the myeloid stem cells usually become a type of immature white blood cell called myeloblasts (or myeloid blasts). The myeloblasts in AML are abnormal and do not become healthy white blood cells. Sometimes in AML, too many stem cells become abnormal red blood cells or platelets. These abnormal white blood cells, red blood cells, or platelets are also called leukemia cells or blasts. Leukemia cells can build up in the bone marrow and blood so there is less room for healthy white blood cells, red blood cells, and platelets. When this happens, infection, anemia, or easy bleeding may occur. The leukemia cells can spread outside the blood to other parts of the body, including the central nervous system (brain and spinal cord), skin, and gums. This summary is about adult AML. See the following PDQ summaries for information about other types of leukemia: - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment - Chronic Myelogenous Leukemia Treatment - Adult Acute Lymphoblastic Leukemia Treatment - Childhood Acute Lymphoblastic Leukemia Treatment - Chronic Lymphocytic Leukemia Treatment - Hairy Cell Leukemia Treatment
There are different subtypes of AML.
Most AML subtypes are based on how mature (developed) the cancer cells are at the time of diagnosis and how different they are from normal cells. Acute promyelocytic leukemia (APL) is a subtype of AML that occurs when parts of two genes stick together. APL usually occurs in middle-aged adults. Signs of APL may include both bleeding and forming blood clots. |
causes | What causes Adenoameloblastoma ? | What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. Adenoameloblastomas in the front upper jaw are often associated with an impacted tooth. |
information | What is (are) Arteriovenous Malformations ? | Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An AVM is a snarled tangle of arteries and veins. They are connected to each other, with no capillaries. That interferes with the blood circulation in an organ. AVMs can happen anywhere, but they are more common in the brain or spinal cord. Most people with brain or spinal cord AVMs have few, if any, major symptoms. Sometimes they can cause seizures or headaches. AVMs are rare. The cause is not known, but they seem to develop during pregnancy or soon after birth. Doctors use imaging tests to detect them. Medicines can help with the symptoms from AVMs. The greatest danger is hemorrhage. Treatment for AVMs can include surgery or focused radiation therapy. Because surgery can be risky, you and your doctor need to make a decision carefully. NIH: National Institute of Neurological Disorders and Stroke |
information | Do you have information about Radiation Therapy | Summary : Radiation therapy is a cancer treatment. It uses high doses of radiation to kill cancer cells and stop them from spreading. About half of all cancer patients receive it. The radiation may be external, from special machines, or internal, from radioactive substances that a doctor places inside your body. The type of radiation therapy you receive depends on many factors, including - The type of cancer - The size of the cancer - The cancer's location in the body - How close the cancer is to normal tissues that are sensitive to radiation - How far into the body the radiation needs to travel - Your general health and medical history - Whether you will have other types of cancer treatment - Other factors, such as your age and other medical conditions Radiation therapy can damage normal cells as well as cancer cells. Treatment must be carefully planned to minimize side effects. Common side effects include skin changes and fatigue. Other side effects depend on the part of your body being treated. Sometimes radiation is used with other treatments, like surgery or chemotherapy. NIH: National Cancer Institute |
genetic changes | What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ? | Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. GPI anchor attaches many different proteins to the cell membrane, thereby ensuring that these proteins are available when needed at the surface of the cell. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. In people with paroxysmal nocturnal hemoglobinuria, somatic mutations of the PIGA gene occur in blood-forming cells called hematopoietic stem cells, which are found mainly in the bone marrow. These mutations result in the production of abnormal blood cells. As the abnormal hematopoietic stem cells multiply, increasing numbers of abnormal blood cells are formed, alongside normal blood cells produced by normal hematopoietic stem cells. The premature destruction of red blood cells seen in paroxysmal nocturnal hemoglobinuria is caused by a component of the immune system called complement. Complement consists of a group of proteins that work together to destroy foreign invaders such as bacteria and viruses. To protect the individual's own cells from being destroyed, this process is tightly controlled by complement-regulating proteins. Complement-regulating proteins normally protect red blood cells from destruction by complement. In people with paroxysmal nocturnal hemoglobinuria, however, abnormal red blood cells are missing two important complement-regulating proteins that need the GPI anchor protein to attach them to the cell membrane. These red blood cells are prematurely destroyed, leading to hemolytic anemia. Research suggests that certain abnormal white blood cells that are also part of the immune system may mistakenly attack normal blood-forming cells, in a malfunction called an autoimmune process. In addition, abnormal hematopoietic stem cells in people with paroxysmal nocturnal hemoglobinuria may be less susceptible than normal cells to a process called apoptosis, which causes cells to self-destruct when they are damaged or unneeded. These features of the disorder may increase the proportion of abnormal blood cells in the body. The proportion of abnormal blood cells affects the severity of the signs and symptoms of paroxysmal nocturnal hemoglobinuria, including the risk of hemoglobinuria and thrombosis. |
treatment | What are the treatments for Greig cephalopolysyndactyly syndrome ? | These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) 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 Hypochondroplasia ? | What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. 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 form of the vertebral bodies 90% Brachydactyly syndrome 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the elbow 50% Abnormality of the femur 50% Genu varum 50% Joint hypermobility 50% Apnea 7.5% Cognitive impairment 7.5% Hyperlordosis 7.5% Intellectual disability 7.5% Macrocephaly 7.5% Osteoarthritis 7.5% Scoliosis 7.5% Spinal canal stenosis 7.5% Aplasia/hypoplasia of the extremities - Autosomal dominant inheritance - Childhood onset short-limb short stature - Flared metaphysis - Frontal bossing - Limited elbow extension - Lumbar hyperlordosis - Malar flattening - Short long bone - 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 Coffin-Siris syndrome ? | These resources address the diagnosis or management of Coffin-Siris syndrome: - Gene Review: Gene Review: Coffin-Siris Syndrome - Genetic Testing Registry: Coffin-Siris 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 |
treatment | What are the treatments for Breast Cancer ? | Even if the surgeon removes all of the cancer that can be seen at the time of surgery, a woman may still receive follow-up treatment. This may include radiation therapy, chemotherapy, or hormone therapy to try to kill any cancer cells that may be left. Treatment that a patient receives after surgery to increase the chances of a cure is called adjuvant therapy. |
information | What is (are) cerebral cavernous malformation ? | Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral). Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related health problems. Other people with this condition may experience serious signs and symptoms such as headaches, seizures, paralysis, hearing or vision loss, and bleeding in the brain (cerebral hemorrhage). Severe brain hemorrhages can result in death. The location and number of cerebral cavernous malformations determine the severity of this disorder. These malformations can change in size and number over time. There are two forms of the condition: familial and sporadic. The familial form is passed from parent to child, and affected individuals typically have multiple cerebral cavernous malformations. The sporadic form occurs in people with no family history of the disorder. These individuals typically have only one malformation. |
genetic changes | What are the genetic changes related to Czech dysplasia ? | Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 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. |
information | What is (are) Binswanger's Disease ? | Binswanger's disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. The damage is the result of the thickening and narrowing (atherosclerosis) of arteries that feed the subcortical areas of the brain. Atherosclerosis (commonly known as "hardening of the arteries") is a systemic process that affects blood vessels throughout the body. It begins late in the fourth decade of life and increases in severity with age. As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. A characteristic pattern of BD-damaged brain tissue can be seen with modern brain imaging techniques such as CT scans or magnetic resonance imaging (MRI). The symptoms associated with BD are related to the disruption of subcortical neural circuits that control what neuroscientists call executive cognitive functioning: short-term memory, organization, mood, the regulation of attention, the ability to act or make decisions, and appropriate behavior. The most characteristic feature of BD is psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer's disease), changes in speech, an unsteady gait, clumsiness or frequent falls, changes in personality or mood (most likely in the form of apathy, irritability, and depression), and urinary symptoms that aren't caused by urological disease. Brain imaging, which reveals the characteristic brain lesions of BD, is essential for a positive diagnosis. |
symptoms | What are the symptoms of Lupus ? | What are the signs and symptoms of Lupus? You can read about the signs and symptoms of lupus from MedlinePlus and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The Human Phenotype Ontology provides the following list of signs and symptoms for Lupus. 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) Abdominal pain 90% Abnormality of temperature regulation 90% Abnormality of the heart valves 90% Abnormality of the pericardium 90% Alopecia 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Chest pain 90% Cutaneous photosensitivity 90% Skin rash 90% Thrombocytopenia 90% Thrombophlebitis 90% Abnormal pyramidal signs 50% Abnormal tendon morphology 50% Abnormality of the autonomic nervous system 50% Abnormality of the endocardium 50% Abnormality of the pleura 50% Anorexia 50% Arterial thrombosis 50% Aseptic leukocyturia 50% Bone marrow hypocellularity 50% Conjunctival telangiectasia 50% Cranial nerve paralysis 50% Cutis marmorata 50% Dry skin 50% Eczema 50% Edema of the lower limbs 50% Glomerulopathy 50% Hallucinations 50% Hematuria 50% Hepatomegaly 50% Hyperkeratosis 50% Hypoproteinemia 50% Increased antibody level in blood 50% Increased intracranial pressure 50% Lymphadenopathy 50% Lymphopenia 50% Meningitis 50% Myalgia 50% Normocytic anemia 50% Recurrent respiratory infections 50% Renal insufficiency 50% Sleep disturbance 50% Splenomegaly 50% Weight loss 50% Xerostomia 50% Abnormal blistering of the skin 7.5% Abnormality of eosinophils 7.5% Abnormality of the myocardium 7.5% Ascites 7.5% Aseptic necrosis 7.5% Cellulitis 7.5% Cerebral ischemia 7.5% Cerebral palsy 7.5% Coronary artery disease 7.5% Diarrhea 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal infarctions 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammation of the large intestine 7.5% Memory impairment 7.5% Myositis 7.5% Nausea and vomiting 7.5% Pancreatitis 7.5% Peripheral neuropathy 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Pulmonary infiltrates 7.5% Restrictive lung disease 7.5% Retinopathy 7.5% Seizures 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Telangiectasia of the skin 7.5% Urticaria 7.5% Vasculitis 7.5% Verrucae 7.5% Antinuclear antibody positivity - Antiphospholipid antibody positivity - Autosomal dominant inheritance - Hemolytic anemia - Leukopenia - Nephritis - Pericarditis - Pleuritis - Psychosis - Systemic lupus erythematosus - 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) Fecal Incontinence ? | The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus.
The large intestine absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus, the opening through which stool leaves the body. |
inheritance | Is isolated growth hormone deficiency inherited ? | Isolated growth hormone deficiency can have different inheritance patterns depending on the type of the condition. Isolated growth hormone deficiency types IA and IB are inherited in an autosomal recessive pattern, which means both copies of the GH1 or GHRHR gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Isolated growth hormone deficiency type II can be inherited in an autosomal dominant pattern, which means a mutation in one copy of the GH1 gene in each cell is sufficient to cause the disorder. This condition can also result from new mutations in the GH1 gene and occur in people with no history of the disorder in their family. Isolated growth hormone deficiency type III, caused by mutations in the BTK gene, is inherited in an X-linked recessive pattern. The BTK gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
information | What is (are) Hemochromatosis type 1 ? | Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. Hemochromatosis type 1 is inherited in an autosomal recessive manner and is caused by mutations in the HFE gene. Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about other types of hereditary hemochromatosis click on the disease names below: Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis |
frequency | How many people are affected by Sjgren syndrome ? | Sjgren syndrome is a relatively common disorder; it occurs in 0.1 to 4 percent of the population. It is difficult to determine the exact prevalence because the characteristic features of this disorder, dry eyes and dry mouth, can also be caused by many other conditions. Women develop Sjgren syndrome about 10 times more often than men; the specific reason for this difference is unknown but likely involves the effects of sex hormones on immune system function. |
information | What is (are) paramyotonia congenita ? | Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements. Most peopleeven those without muscle diseasefeel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling. |
treatment | What are the treatments for Barraquer-Simons syndrome ? | How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure. |
frequency | How many people are affected by Balance Problems ? | In 2008, an estimated 14.8 percent of American adults (33.4 million) had a balance or dizziness problem during the past year. See statistics about the frequency of balance and other sensory impairments in older adults. (Centers for Disease Control and Prevention) |
genetic changes | What are the genetic changes related to 5q minus syndrome ? | 5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature blood cells during a person's lifetime and affects one of the two copies of chromosome 5 in each cell. The commonly deleted region of DNA contains 40 genes, many of which play a critical role in normal blood cell development. Research suggests that loss of multiple genes in this region contributes to the features of 5q- syndrome. Loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells. Scientists are still determining how the loss of other genes in the deleted region might be involved in the features of 5q- syndrome. |
frequency | How many people are affected by Huntington disease-like syndrome ? | Overall, HDL syndromes are rare. They are much less common than Huntington disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. Of the four described HDL syndromes, HDL4 appears to be the most common. HDL2 is the second most common and occurs almost exclusively in people of African heritage (especially black South Africans). HDL1 has been reported in only one family. HDL3 has been found in two families, both of which were from Saudi Arabia. |
symptoms | What are the symptoms of Gastritis ? | Some people who have gastritis have pain or discomfort in the upper part of the abdomenthe area between the chest and hips. However, many people with gastritis do not have any signs and symptoms. The relationship between gastritis and a person's symptoms is not clear. The term gastritis is sometimes mistakenly used to describe any symptoms of pain or discomfort in the upper abdomen.
When symptoms are present, they may include
- upper abdominal discomfort or pain - nausea - vomiting
Seek Help for Symptoms of Bleeding in the Stomach Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include - shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. More information is provided in the NIDDK health topic, Bleeding in the Digestive Tract. |
symptoms | What are the symptoms of Epilepsy occipital calcifications ? | What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. 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 metabolism/homeostasis 90% Abnormality of the cerebral vasculature 90% Anemia 90% Cerebral calcification 90% Malabsorption 90% Seizures 90% Visual impairment 90% Cognitive impairment 7.5% Celiac disease - 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 preeclampsia ? | Preeclampsia is a common condition in all populations, occurring in 2 to 8 percent of pregnancies. It occurs more frequently in women of African or Hispanic descent than it does in women of European descent. |
treatment | What are the treatments for congenital myasthenic syndrome ? | These resources address the diagnosis or management of congenital myasthenic syndrome: - Gene Review: Gene Review: Congenital Myasthenic Syndromes - Genetic Testing Registry: CHRNA1-Related Congenital Myasthenic Syndrome - Genetic Testing Registry: Congenital myasthenic syndrome - Genetic Testing Registry: Congenital myasthenic syndrome 1B, fast-channel - Genetic Testing Registry: Congenital myasthenic syndrome with tubular aggregates 1 - Genetic Testing Registry: Congenital myasthenic syndrome, acetazolamide-responsive - Genetic Testing Registry: Endplate acetylcholinesterase deficiency - Genetic Testing Registry: Familial infantile myasthenia - Genetic Testing Registry: Myasthenia, limb-girdle, familial - Genetic Testing Registry: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency - Genetic Testing Registry: Myasthenic syndrome, slow-channel congenital 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 |
inheritance | Is Achondrogenesis inherited ? | How is achondrogenesis inherited? Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Achondrogenesis type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is almost always caused by new (de novo) mutations and typically occurs in people with no history of the disorder in their family. |
genetic changes | What are the genetic changes related to spondyloepiphyseal dysplasia congenita ? | Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal 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 cartilage and in the clear gel that fills the eyeball (the vitreous). The COL2A1 gene is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. |
information | What is (are) Foodborne Illnesses ? | Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. Common symptoms of foodborne illnesses include vomiting, diarrhea, abdominal pain, fever, and chills.
Most foodborne illnesses are acute, meaning they happen suddenly and last a short time, and most people recover on their own without treatment. Rarely, foodborne illnesses may lead to more serious complications. Each year, an estimated 48 million people in the United States experience a foodborne illness. Foodborne illnesses cause about 3,000 deaths in the United States annually.1 |
symptoms | What are the symptoms of Triploidy ? | What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. 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 chromosome segregation 90% Abnormality of the fontanelles or cranial sutures 90% Cryptorchidism 90% Decreased skull ossification 90% Displacement of the external urethral meatus 90% Hypertelorism 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Wide mouth 90% Abnormality of the tongue 50% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cleft palate 50% Finger syndactyly 50% Hepatomegaly 50% Iris coloboma 50% Narrow chest 50% Non-midline cleft lip 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the cardiac septa 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pancreas 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Macrocephaly 7.5% Meningocele 7.5% Narrow mouth 7.5% Short neck 7.5% 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. |
outlook | What is the outlook for Sjgren's Syndrome ? | Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. Many patients are able to treat problems symptomatically. Others are forced to cope with blurred vision, constant eye discomfort, recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. |
causes | What causes Tracheobronchomalacia ? | What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with mucopolysaccharidoses (such as Hunter syndrome and Hurler syndrome), Ehlers-Danlos Syndrome, and a variety of chromosome abnormalities. Primary TBM can also be idiopathic (unknown cause) or associated with prematurity and certain birth defects (i.e. tracheoesophageal fistula). The secondary form (also called acquired TBM) is caused by the degeneration (break down) of cartilage that typically supports the airways. It is most commonly associated with: Certain medical procedures such as endotracheal intubation or tracheostomy Conditions that lead to chronic (persisting or progressing for a long period of time) inflammation such as relapsing polychondritis or chronic obstructive pulmonary disease (COPD) Cancers, tumors, or cysts that cause prolonged compression of the airway |
information | What is (are) Sialidosis type I ? | Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy. |
treatment | What are the treatments for Darier disease ? | These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis 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) Parasites - Baylisascaris infection ? | Baylisascaris worms are intestinal parasites found in a wide variety of animals. Different species of Baylisascaris are associated with different animal hosts. For example, Baylisascaris procyonis is found in raccoons and Baylisascaris columnaris is an intestinal parasite found in skunks. Cases of Baylisascaris infection in people are not frequently reported, but can be severe. Baylisascaris procyonis is thought to pose the greatest risk to humans because of the often close association of raccoons to human dwellings. |
research | what research (or clinical trials) is being done for Atrial Fibrillation and Stroke ? | The National Institute of Neurological Disorders and Stroke (NINDS) is the leading Federal agency directing and funding research relevant to AF and stroke prevention. The NINDS conducts basic and clinical research in its laboratories and clinics at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as AF that can increase the risk of stroke. |
outlook | What is the outlook for Infantile Spasms ? | The prognosis for children with IS is dependent on the underlying causes of the seizures. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. Epileptic spasms usually reduce in number by mid-childhood, but more than half of the children with IS will develop other types of seizures. There appears to be a close relationship between IS and Lennox-Gastaut Syndrome, an epileptic disorder of later childhood. |
symptoms | What are the symptoms of Juvenile osteoporosis ? | What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. 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) Bone pain 90% Recurrent fractures 90% Reduced bone mineral density 90% Gait disturbance 50% Kyphosis 7.5% Autosomal recessive inheritance - Low serum calcitriol (1,25-dihydroxycholecalciferol) - Osteoporosis - 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) Ollier disease ? | Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). Clinical manifestations often appear in the first decade of life. The cause is unknown. There is no medical treatment, although surgery may be indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise. |
frequency | How many people are affected by osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people. |
inheritance | Is Mitochondrial complex II deficiency inherited ? | What causes mitochondrial complex II deficiency? Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 genes can all potentially cause complex II deficiency. Complex II deficiency is inherited in an autosomal recessive fashion. This means that a person must inherit a gene mutation from both their mother and father in order to develop complex II deficiency. People who have a single mutation are called carriers. Carriers of complex II deficiency may be at an increased risk for certain health problems, including for paragangliomas and/or pheochromocytomas.[8676] |
inheritance | Is Focal dermal hypoplasia inherited ? | How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal hypoplasia, the theoretical risk of passing the mutation to each of her offspring is 50%; however, many males with this condition do not survive. In addition, there are cases in which a woman may have the focal dermal hypoplasia mutation in some but not all of her egg cells, a condition known as germline mosaicism. In this case the risk of passing along the mutation may be as high as 50% depending on the level of mosaicism. Males with focal dermal hypoplasia typically have the mutation in some but not all of their cells. The risk that a male with FDH will pass the condition on to his daughters may be as high as 100%; men do not pass this condition on to their sons. We recommend discussing specific concerns with a genetics professional, who can help you understand how this condition might be inherited in your family. Click on the following link for resources for finding a genetics professional. |
prevention | How to prevent Thrombocytopenia ? | Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example:
Avoid heavy drinking. Alcohol slows the production of platelets.
Try to avoid contact with toxic chemicals. Chemicals such as pesticides, arsenic, and benzene can slow the production of platelets.
Avoid medicines that you know have decreased your platelet count in the past.
Be aware of medicines that may affect your platelets and raise your risk of bleeding. Two examples of such medicines are aspirin and ibuprofen. These medicines may thin your blood too much.
Talk with your doctor about getting vaccinated for viruses that can affect your platelets. You may need vaccines for mumps, measles, rubella, and chickenpox. You may want to have your child vaccinated for these viruses as well. Talk with your child's doctor about these vaccines. |
causes | What causes Aplasia cutis congenita ? | What causes aplasia cutis congenita? There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as methimazole, carbimazole, misoprostol, and valproic acid; compromised vasculature to the skin; and trauma. Some cases may represent an incomplete or unusual form of a neural tube defect. Familial cases of aplasia cutis congenita have been reported. Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner. |
genetic changes | What are the genetic changes related to Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. The INSR gene mutations that cause Rabson-Mendenhall syndrome reduce the number of insulin receptors that reach the cell membrane or diminish the function of these receptors. Although insulin is present in the bloodstream, without enough functional receptors it is less able to exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and affects many aspects of development in people with Rabson-Mendenhall syndrome. |
treatment | What are the treatments for Childhood Brain and Spinal Cord Tumors ? | Key Points
- There are different types of treatment for children with brain and spinal cord tumors. - Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors. - Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - 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 children with brain and spinal cord tumors.
Different types of treatment are available for children with brain and spinal cord tumors. 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. Because cancer in children is rare, taking part in a clinical trial should be considered. Clinical trials are taking place in many parts of the country. Some clinical trials are open only to patients who have not started treatment.
Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors.
Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Neurosurgeon. - Neurologist. - Neuro-oncologist. - Neuropathologist. - Neuroradiologist. - Radiation oncologist. - Endocrinologist. - Psychologist. - Ophthalmologist. - Rehabilitation specialist. - Social worker. - Nurse specialist.
Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years.
Childhood brain and spinal cord tumors may cause signs or symptoms that continue for months or years. Signs or symptoms caused by the tumor may begin before diagnosis. Signs or symptoms caused by treatment may begin during or right after treatment.
Some cancer treatments cause side effects months or years after treatment has ended.
These are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information).
Three types of standard treatment are used:
Surgery Surgery may be used to diagnose and treat childhood brain and spinal cord tumors. See the General Information section of this summary. 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 of cancer being treated. External radiation therapy is used to treat childhood brain and spinal cord tumors. 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 in 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. Anticancer drugs given by mouth or vein to treat brain and spinal cord tumors cannot cross the blood-brain barrier and enter the fluid that surrounds the brain and spinal cord. Instead, an anticancer drug is injected into the fluid-filled space to kill cancer cells there. This is called intrathecal chemotherapy.
New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. Information about clinical trials is available from the NCI website.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. |
information | What is (are) Chromosome 19p deletion ? | Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 19p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 19p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 19. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. |
research | what research (or clinical trials) is being done for Encephalitis Lethargica ? | The NINDS supports research on disorders that affect the brain, such as encephalitis lethargica, with the goal of finding ways to prevent and treat them. (The disease was the subject of the book and film, "Awakenings.") |
symptoms | What are the symptoms of Brugada syndrome 4 ? | What are the signs and symptoms of Brugada syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brugada syndrome 4. 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 dominant inheritance - Shortened QT interval - Syncope - 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. |
susceptibility | Who is at risk for Neuroblastoma? ? | The risk factors for neuroblastoma are not known. |
symptoms | What are the symptoms of Baller-Gerold syndrome ? | What are the signs and symptoms of Baller-Gerold syndrome? Many people with Baller-Gerold syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose. Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations. People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of skin tissue degeneration, and small clusters of enlarged blood vessels just under the skin. These chronic skin problems are collectively known as poikiloderma. The Human Phenotype Ontology provides the following list of signs and symptoms for Baller-Gerold 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) Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the thumb 90% Frontal bossing 90% Proptosis 90% Short stature 90% Split hand 90% Aplasia/Hypoplasia involving the nose 50% Bowing of the long bones 50% Ectopic anus 50% Intrauterine growth retardation 50% Malabsorption 50% Narrow mouth 50% Patellar aplasia 50% Abnormal localization of kidney 7.5% Abnormality of the cardiac septa 7.5% Broad forehead 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Epicanthus 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Lymphoma 7.5% Narrow face 7.5% Narrow nasal bridge 7.5% Neoplasm of the skeletal system 7.5% Nystagmus 7.5% Poikiloderma 7.5% Prominent nasal bridge 7.5% Scoliosis 7.5% Urogenital fistula 7.5% Vesicoureteral reflux 7.5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the vertebrae - Absent radius - Agenesis of corpus callosum - Anal atresia - Anomalous splenoportal venous system - Anteriorly placed anus - Aphalangy of the hands - Aplasia of metacarpal bones - Autosomal recessive inheritance - Bicoronal synostosis - Bifid uvula - Brachyturricephaly - Carpal bone aplasia - Carpal synostosis - Choanal stenosis - Coronal craniosynostosis - Flat forehead - High palate - Hydrocephalus - Hypoplasia of the radius - Hypoplasia of the ulna - Intellectual disability - Lambdoidal craniosynostosis - Limited elbow movement - Limited shoulder movement - Low-set, posteriorly rotated ears - Midface capillary hemangioma - Myopia - Optic atrophy - Patellar hypoplasia - Perineal fistula - Polymicrogyria - Rectovaginal fistula - Rib fusion - Sagittal craniosynostosis - Seizures - Short humerus - Spina bifida occulta - Strabismus - Ulnar bowing - Underdeveloped nasal alae - 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 VLDLR-associated cerebellar hypoplasia ? | These resources address the diagnosis or management of VLDLR-associated cerebellar hypoplasia: - Gene Review: Gene Review: Hereditary Ataxia Overview - Gene Review: Gene Review: VLDLR-Associated Cerebellar Hypoplasia - Genetic Testing Registry: Dysequilibrium 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 |
susceptibility | Who is at risk for Smoking and the Digestive System? ? | Smoking has been found to increase the risk of cancers of the3
- mouth - esophagus - stomach - pancreas
3
,
4
,
5
- liver - colon - rectum
More information about the link between smoking and cancers of the digestive system can be found on the National Cancer Institute website at www.cancer.gov/cancertopics/tobacco/smoking. |
treatment | What are the treatments for Hypotrichosis simplex ? | Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may remain in some individuals. There is currently no treatment for hypotrichosis simplex. |
causes | What causes Intervertebral disc disease ? | What causes intervertebral disc disease? Intervertebral disc disease (IDD) is a multifactorial disorder, which means that both genetic and environmental factors probably interact to predispose an individual to the condition. It is likely that several factors are needed for development of IDD. Factors such as occupational stress, trauma, or obesity, together with genetic alterations, may result in the structural weakness of a disc, cause a herniation, and possibly initiate a cascade of events leading to sciatica and pathological disc changes. One of the best-known environmental risk factors for IDD is vibration in occupational driving. Inflammation is also likely to play an important role in the progression of this process. |
frequency | How many people are affected by Proteus syndrome ? | Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature. Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To make an accurate diagnosis, most doctors and researchers now follow a set of strict guidelines that define the signs and symptoms of Proteus syndrome. |
susceptibility | Who is at risk for Paranasal Sinus and Nasal Cavity Cancer? ? | Being exposed to certain chemicals or dust in the workplace can increase the risk of paranasal sinus and nasal cavity cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for paranasal sinus and nasal cavity cancer include the following: - Being exposed to certain workplace chemicals or dust, such as those found in the following jobs: - Furniture-making. - Sawmill work. - Woodworking (carpentry). - Shoemaking. - Metal-plating. - Flour mill or bakery work. - Being infected with human papillomavirus (HPV). - Being male and older than 40 years. - Smoking. |
information | What is (are) Systemic capillary leak syndrome ? | Systemic capillary leak syndrome is a condition in which fluid and proteins leak out of tiny blood vessels and flow into surrounding tissues, resulting in dangerously low blood pressure. Attacks frequently last for several days and require emergency care. Most cases of capillary leak occur randomly in previously healthy adults. Treatment involves preventing attacks using medications which may decrease capillary leakage and interfere with hormones that may cause future leakage. Once an attack is underway, treatment is aimed at controlling blood pressure to maintain blood flow to vital organs and prevention of swelling due to fluid accumulation. Capillary leak syndrome may lead to multiple organ failure, shock and even death. |
information | What is (are) Swyer syndrome ? | Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually 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. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures. People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life. People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo. Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities. |
treatment | What are the treatments for Juvenile amyotrophic lateral sclerosis ? | How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider. |
treatment | What are the treatments for Protein C deficiency ? | How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. Preventative treatment with these blood-thinning drugs may also be considered in those with a family history of blood clotting, as well as in higher risk situations such as pregnancy. A protein C concentrate (Ceprotin) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis. |
causes | What causes Primary Biliary Cirrhosis ? | The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. In primary biliary cirrhosis, the immune system attacks the small bile ducts in the liver.
Genetics, or inherited genes, can make a person more likely to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. In people who are genetically more likely to develop primary biliary cirrhosis, environmental factors may trigger or worsen the disease, including
- exposure to toxic chemicals - smoking - infections
Genetics can also make some people more likely to develop other autoimmune diseases, such as
- autoimmune hepatitis, a disease in which the bodys immune system attacks liver cells - Sjgrens syndrome, a condition in which the immune system attacks the glands that produce tears and saliva - autoimmune thyroid dysfunctions, conditions in which the immune system attacks the thyroid gland |
treatment | What are the treatments for Duchenne and Becker muscular dystrophy ? | These resources address the diagnosis or management of Duchenne and Becker muscular dystrophy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Becker muscular dystrophy - Genetic Testing Registry: Duchenne muscular dystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Becker Muscular Dystrophy - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Duchenne Muscular Dystrophy 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) Rectal Cancer ? | Key Points
- Rectal cancer is a disease in which malignant (cancer) cells form in the tissues of the rectum. - Health history affects the risk of developing rectal cancer. - Signs of rectal cancer include a change in bowel habits or blood in the stool. - Tests that examine the rectum and colon are used to detect (find) and diagnose rectal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options.
Rectal cancer is a disease in which malignant (cancer) cells form in the tissues of the rectum.
The rectum is part of the bodys digestive system. The digestive system takes in nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The digestive system is made up of the esophagus, stomach, and the small and large intestines. The colon (large bowel) is the first part of the large intestine and is about 5 feet long. Together, the rectum and anal canal make up the last part of the large intestine and are 6-8 inches long. The anal canal ends at the anus (the opening of the large intestine to the outside of the body). See the following PDQ summaries for more information about rectal cancer: - Unusual Cancers of Childhood Treatment (see Colorectal Cancer section) - Colorectal Cancer Prevention - Colorectal Cancer Screening - Gastrointestinal Stromal Tumors Treatment - Genetics of Colorectal Cancer |
inheritance | Is Spastic diplegia cerebral palsy inherited ? | Is spastic diplegia cerebral palsy inherited? Scientists have found that family members of people with cerebral palsy, including spastic diplegia cerebral palsy, have an increased risk of developing the condition. The exact risk depends on the how closely the family members are related: A child with a sibling (brother, sister) or parent with cerebral palsy would have a six- to nine-fold increased risk of developing the condition (actual risk: 1 to 1.5%) A child with a half sibling with cerebral palsy would have up to a three-fold risk of developing the condition (actual risk: less than 1%) A child with a first cousin with cerebral palsy would have a 1.5-fold increased risk of developing the condition (actual risk: less than 1%) This suggests that there may be a genetic component in some cases of cerebral palsy. However, the inheritance is likely multifactorial which means the condition is caused by multiple genes interacting with each other and with environmental factors. |
causes | What causes Urinary Tract Infections ? | Most urinary tract infections, or UTIs, are caused by bacteria that enter the urethra and then the bladder. A type of bacteria that normally lives in the bowel (called E. coli) causes most UTIs. UTIs can also be caused by fungus (another type of germ). Who Gets UTIs? Although everyone has some risk for UTIs, some people are more likely to get UTIs than others. These include people who have - spinal cord injuries or other nerve damage around the bladder. - a blockage in the urinary tract that can trap urine in the bladder. The blockage can be caused by kidney stones, an enlarged prostate, or a birth defect. - diabetes - problems with the bodys natural defense (or immune) system - pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely spinal cord injuries or other nerve damage around the bladder. a blockage in the urinary tract that can trap urine in the bladder. The blockage can be caused by kidney stones, an enlarged prostate, or a birth defect. diabetes problems with the bodys natural defense (or immune) system pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely UTIs in Women More than half of women will have at least one UTI in their lifetime. Women are more likely than men to get UTIs because they have a shorter urethra, making it easier for bacteria to reach the bladder. Also, the bowel and urethral openings are closer together in women than in men, making it easier for E. coli (a bacteria that lives in the bowel) to travel from the bowel to the urethra. Many women suffer from frequent UTIs. Some women have 3 or more UTIs a year. However, very few women will have frequent UTIs throughout their lives. More typically, a woman will have a period of 1 or 2 years with frequent UTIs. After this period, the UTIs may stop or happen less often. Older women are more likely to get UTIs because the bladder muscles weaken and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely. UTIs in Men Men are less likely than women to have a first UTI. But once a man has a UTI, he is likely to have another. Bacteria from a UTI can spread to the prostate. Once there, the bacteria can hide deep inside prostate tissue. Prostate infections are hard to cure because antibiotics may not be able to reach the infected prostate tissue. Activities That Can Increase Risk - Having sex. Sexual activity can move bacteria from the bowel or vaginal cavity to the urethral opening. Urinating after sex lowers the risk of infection. - Using a catheter to urinate. A catheter is a tube placed in the urethra and bladder to help people empty the bladder. The catheter can make a direct path for bacteria to reach the bladder. - Using certain birth controls. Diaphragms can bring bacteria with them when they are placed. Spermicides (a birth control that kills sperm) may also make UTIs more likely. Having sex. Sexual activity can move bacteria from the bowel or vaginal cavity to the urethral opening. Urinating after sex lowers the risk of infection. Using a catheter to urinate. A catheter is a tube placed in the urethra and bladder to help people empty the bladder. The catheter can make a direct path for bacteria to reach the bladder. Using certain birth controls. Diaphragms can bring bacteria with them when they are placed. Spermicides (a birth control that kills sperm) may also make UTIs more likely. |
information | What is (are) Cystic Fibrosis ? | Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms. CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. NIH: National Heart, Lung, and Blood Institute |
causes | What causes Charcot-Marie-Tooth disease type 2F ? | What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses. |
treatment | What are the treatments for Antiphospholipid Syndrome ? | The main goal of treatment is to thin the blood to reduce clotting. At present, the recommended treatment is low-dose aspirin. For individuals who have already had a stroke or experience recurrent clots, doctors recommend treatment with the anticoagulant warfarin. Pregnant women are treated with either aspirin or another anticoagulant -- heparin -- since warfarin can cause birth defects. |
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