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information | What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ? | The prostate is a walnut-shaped gland that is part of the male reproductive system. The main function of the prostate is to make a fluid that goes into semen. Prostate fluid is essential for a mans fertility. The gland surrounds the urethra at the neck of the bladder. The bladder neck is the area where the urethra joins the bladder. The bladder and urethra are parts of the lower urinary tract. The prostate has two or more lobes, or sections, enclosed by an outer layer of tissue, and it is in front of the rectum, just below the bladder. The urethra is the tube that carries urine from the bladder to the outside of the body. In men, the urethra also carries semen out through the penis. |
symptoms | What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. 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) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - 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 Mayer-Rokitansky-Kster-Hauser syndrome ? | MRKH syndrome affects approximately 1 in 4,500 newborn girls. |
causes | What causes Uncombable hair syndrome ? | What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified. |
causes | What causes Ectopic Kidney ? | During fetal development, a babys kidneys first appear as buds inside the pelvisthe bowl-shaped bone that supports the spine and holds up the digestive, urinary, and reproductive organsnear the bladder. As the kidneys develop, they move gradually toward their usual position in the back near the rib cage. Sometimes, one of the kidneys remains in the pelvis or stops moving before it reaches its usual position. In other cases, the kidney moves higher than the usual position. Rarely does a child have two ectopic kidneys.
Most kidneys move toward the rib cage, but one may cross over so that both kidneys are on the same side of the body. When a crossover occurs, the two kidneys often grow together and become fused.
Factors that may lead to an ectopic kidney include
- poor development of a kidney bud - a defect in the kidney tissue responsible for prompting the kidney to move to its usual position - genetic abnormalities - the mother being sick or being exposed to an agent, such as a drug or chemical, that causes birth defects |
inheritance | Is Epidermolysis bullosa inherited ? | How is epidermolysis bullosa inherited? Inherited epidermolysis bullosa (EB) may follow either an autosomal dominant or autosomal recessive inheritance pattern, depending on the type and subtype of inherited EB in the affected person. Epidermolysis bullosa simplex (the most common type of EB) is mainly autosomal dominant, except for a few rare autosomal recessive subtypes. Dystrophic epidermolysis bullosa (DEB) can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype present. However, dominant DEB is the second most common major type of EB. Junctional epidermolysis bullosa is autosomal recessive, although one article stated that an autosomal dominant form has recently been reported. Kindler syndrome is only inherited in an autosomal recessive manner. A condition is autosomal dominant if having only one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. Many people with an autosomal dominant form of EB have an affected parent, but in some cases a mutation in the responsible gene occurs for the first time in a person with no family history of EB (called a de novo mutation). A person with a de novo mutation still has a 50% chance to pass the mutation on to each of his/her children. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene in each cell to be affected. Typically, an affected person inherits one changed (mutated) copy of the responsible gene from each parent, who are referred to as carriers. Carriers usually do not have symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to not be a carrier and not be affected. Epidermolysis bullosa acquisita (acquired EB) is a rare autoimmune disorder and is not inherited. |
symptoms | What are the symptoms of Parkinson's Disease ? | Parkinson's disease does not affect everyone the same way. Symptoms of the disorder and the rate of progression differ among people with the disease. Sometimes people dismiss early symptoms of Parkinson's as the effects of normal aging. There are no medical tests to definitively diagnose the disease, so it can be difficult to diagnose accurately. Early Symptoms Early symptoms of Parkinson's disease are subtle and occur gradually. For example, affected people may feel mild tremors or have difficulty getting out of a chair. They may notice that they speak too softly or that their handwriting is slow and looks cramped or small. This very early period may last a long time before the more classic and obvious symptoms appear. Friends or family members may be the first to notice changes in someone with early Parkinson's. They may see that the person's face lacks expression and animation, a condition known as "masked face," or that the person does not move an arm or leg normally. They also may notice that the person seems stiff, unsteady, or unusually slow. As the Disease Progresses As the disease progresses, symptoms may begin to interfere with daily activities. The shaking or tremor may make it difficult to hold utensils steady or read a newspaper. Tremor is usually the symptom that causes people to seek medical help. People with Parkinson's often develop a so-called parkinsonian gait that includes a tendency to lean forward, small quick steps as if hurrying forward (called festination), and reduced swinging of the arms. They also may have trouble initiating or continuing movement, which is known as freezing. Symptoms often begin on one side of the body or even in one limb on one side of the body. As the disease progresses, it eventually affects both sides. However, the symptoms may still be more severe on one side than on the other. Four Primary Symptoms The four primary symptoms of Parkinson's are tremor, rigidity, slowness of movement (bradykinesia), and impaired balance (postural instability). - Tremor often begins in a hand, although sometimes a foot or the jaw is affected first. It is most obvious when the hand is at rest or when a person is under stress. It usually disappears during sleep or improves with a deliberate movement. - Rigidity, or a resistance to movement, affects most people with Parkinson's. It becomes obvious when another person tries to move the individual's arm, such as during a neurological examination. The arm will move only in ratchet-like or short, jerky movements known as "cogwheel" rigidity. - Bradykinesia, or the slowing down and loss of spontaneous and automatic movement, is particularly frustrating because it may make simple tasks somewhat difficult. Activities once performed quickly and easily, such as washing or dressing, may take several hours. - Postural instability, or impaired balance, causes people with Parkinson's to fall easily. They also may develop a stooped posture with a bowed head and droopy shoulders. Tremor often begins in a hand, although sometimes a foot or the jaw is affected first. It is most obvious when the hand is at rest or when a person is under stress. It usually disappears during sleep or improves with a deliberate movement. Rigidity, or a resistance to movement, affects most people with Parkinson's. It becomes obvious when another person tries to move the individual's arm, such as during a neurological examination. The arm will move only in ratchet-like or short, jerky movements known as "cogwheel" rigidity. Bradykinesia, or the slowing down and loss of spontaneous and automatic movement, is particularly frustrating because it may make simple tasks somewhat difficult. Activities once performed quickly and easily, such as washing or dressing, may take several hours. Postural instability, or impaired balance, causes people with Parkinson's to fall easily. They also may develop a stooped posture with a bowed head and droopy shoulders. Other Symptoms A number of other symptoms may accompany Parkinson's disease. Some are minor; others are not. Many can be treated with medication or physical therapy. No one can predict which symptoms will affect an individual person, and the intensity of the symptoms varies from person to person. Many people note that prior to experiencing motor problems of stiffness and tremor, they had symptoms of a sleep disorder, constipation, decreased ability to smell, and restless legs. Other symptoms include - depression - emotional changes - difficulty swallowing and chewing - speech changes - urinary problems or constipation - skin problems, sleep problems - dementia or other cognitive problems - orthostatic hypotension (a sudden drop in blood pressure when standing up from a sitting or lying down position) - muscle cramps and dystonia (twisting and repetitive movements) - pain - fatigue and loss of energy - sexual dysfunction. depression emotional changes difficulty swallowing and chewing speech changes urinary problems or constipation skin problems, sleep problems dementia or other cognitive problems orthostatic hypotension (a sudden drop in blood pressure when standing up from a sitting or lying down position) muscle cramps and dystonia (twisting and repetitive movements) pain fatigue and loss of energy sexual dysfunction. A number of disorders can cause symptoms similar to those of Parkinson's disease. People with Parkinson's-like symptoms that result from other causes are sometimes said to have parkinsonism. While these disorders initially may be misdiagnosed as Parkinson's, certain medical tests, as well as response to drug treatment, may help to distinguish them from Parkinson's. Diagnosis Can Be Difficult There are currently no blood, or laboratory tests to diagnose sporadic Parkinson's disease. Diagnosis is based on a person's medical history and a neurological examination, but the disease can be difficult to diagnose accurately. Early signs and symptoms of Parkinson's may sometimes be dismissed as the effects of normal aging. A doctor may need to observe the person for some time until it is clear that the symptoms are consistently present. Improvement after initiating medication is another important hallmark of Parkinson's disease. Doctors may sometimes request brain scans or laboratory tests to rule out other diseases. However, computed tomography (CT) and magnetic resonance imaging (MRI) brain scans of people with Parkinson's usually appear normal. Recently, the FDA (Food and Drug Administration) has approved an imaging technique called DaTscan, which may help to increase accuracy of the diagnosis of Parkinsons disease. Since many other diseases have similar features but require different treatments, it is very important to make an exact diagnosis as soon as possible to ensure proper treatment. |
symptoms | What are the symptoms of STING-associated vasculopathy with onset in infancy ? | What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. 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) Arthralgia 5% Joint stiffness 5% Myalgia 5% Myositis 5% Anemia - Cutis marmorata - Elevated erythrocyte sedimentation rate - Erythema - Failure to thrive - Fever - Follicular hyperplasia - Growth delay - Increased antibody level in blood - Interstitial pulmonary disease - Leukopenia - Nail dystrophy - Pustule - Recurrent respiratory infections - Telangiectasia - Thrombocytosis - 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) Nakajo-Nishimura syndrome ? | Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing). Later in childhood, affected individuals develop joint pain and joint deformities called contractures that limit movement, particularly in the hands, wrists, and elbows. They also experience weakness and wasting of muscles, along with a loss of fatty tissue (lipodystrophy), mainly in the upper body. The combination of muscle and fat loss worsens over time, leading to an extremely thin (emaciated) appearance in the face, chest, and arms. Other signs and symptoms of Nakajo-Nishimura syndrome can include an enlarged liver and spleen (hepatosplenomegaly), a shortage of red blood cells (anemia), a reduced amount of blood clotting cells called platelets (thrombocytopenia), and abnormal deposits of calcium (calcification) in an area of the brain called the basal ganglia. Intellectual disability has been reported in some affected individuals. The signs and symptoms of Nakajo-Nishimura syndrome overlap with those of two other conditions: one called joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome; and the other called chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. All three conditions are characterized by skin abnormalities and lipodystrophy. Although they are often considered separate disorders, they are caused by mutations in the same gene, and some researchers believe they may represent different forms of a single condition. |
symptoms | What are the symptoms of Schnitzler syndrome ? | What are the signs and symptoms of Schnitzler syndrome? The signs and symptoms of Schnitzler syndrome vary but may include: Red raised patches of skin (urticaria) that may become itchy Recurrent fevers Join pain and inflammation Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or spleen Bone pain Blood abnormalities Muscle aches Fatigue Weight loss People affected by Schnitzler syndrome also have an increased risk of developing certain lymphoproliferative disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Schnitzler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal immunoglobulin level 90% Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Bone pain 90% Hepatomegaly 90% Increased bone mineral density 90% Lymphadenopathy 90% Myalgia 90% Splenomegaly 90% Urticaria 90% Anemia 50% Leukocytosis 50% Lymphoma 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Vasculitis 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. |
information | What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? | Everyone should know about fat sources because eating the wrong kinds of fat and too much fat increases the risk of clogged blood vessels and heart problems. Fat provides energy, helps produce hormonelike substances that regulate blood pressure and other heart functions, and carries fat-soluble vitamins. Everyone needs dietary fat, but some fats are healthier than others. People with CKD are at higher risk of having a heart attack or stroke. Therefore, people with CKD should be especially careful about how dietary fat affects their heart health.
People with advanced CKD should talk with a dietitian about healthy and unhealthy sources of fat. Saturated fats and trans-fatty acids can raise blood cholesterol levels and clog blood vessels. Saturated fats are found in animal products such as red meat, poultry, whole milk, and butter. These fats are usually solid at room temperature. Trans-fatty acids are often found in commercially baked goods such as cookies and cakes and in fried foods like doughnuts and french fries.
A dietitian can suggest healthy ways to include fat in the diet, especially if more calories are needed. Vegetable oils such as corn or safflower oil are healthier than animal fats such as butter or lard. Hydrogenated vegetable oils should be avoided because they are high in trans-fatty acids. Monounsaturated fatsolive, peanut, and canola oilsare healthy alternatives to animal fats. The table below shows the sources of fats, broken down into three types of fats that should be eaten less often and good fats that can be eaten more often.
Sources of Fats
Eat Less Often Eat More Often Saturated fats - red meat - poultry - whole milk - butter - lard Monounsaturated fats - corn oil - safflower oil - olive oil - peanut oil - canola oil Trans-fatty acids - commercial baked goods - french fries - doughnuts Hydrogenated vegetable oils - margarine - shortening |
information | What is (are) Chronic fatigue syndrome ? | Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities. It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. The main symptom is disabling fatigue that does not improve with rest. Other signs and symptoms may include muscle pain; joint pain; concentration and memory problems; headaches; sleep problems; fever; sore throat; and/or tender lymph nodes. The cause of chronic fatigue syndrome is not known yet. Some researchers have proposed that this condition is caused by viral infections or by immunological, hormonal or mental or psychiatric problems, but none have been proved. It is also believed that there may be a genetic predisposition for this condition and stress-related events act as triggers. Because the symptoms are similar to many conditions that need to be ruled out, the diagnosis make take some time to be made and patients are frequently misunderstood. Those who are affected are typically highly functioning individuals who are "struck down" with this disease. There is still no cure for this condition but there are several clinical trials. Current treatment consists of cognitive and/or behavioral therapy and focuses on improving symptoms and may include medications to treat pain, sleep disorders and other associated problems. There is significant controversy and debate in the medical literature about the relationship between myalgic encephalomyelitis and chronic fatigue syndrome. Unfortunately there is no consensus on nomenclature or classification for these disorders, and different countries, organizations, and researchers continue to use different names to describe these conditions. Until a global consensus is reached on how to name and classify these disorders, confusion will persist. |
genetic changes | What are the genetic changes related to autosomal recessive hypotrichosis ? | Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. The proteins produced from the LIPH, LPAR6, and DSG4 genes are also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands). Mutations in the LIPH, LPAR6, or DSG4 gene result in the production of abnormal proteins that cannot aid in the development of hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to woolly, fragile hair that is easily broken. A lack of these proteins in the epidermis likely contributes to the skin problems sometimes seen in affected individuals. In some areas of the body, other proteins can compensate for the function of the missing protein, so not all areas with hair are affected and not all individuals have skin problems. |
causes | What causes Diabetic mastopathy ? | What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia. |
information | What is (are) Hereditary diffuse leukoencephalopathy with spheroids ? | Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern. |
symptoms | What are the symptoms of Hypotension ? | Orthostatic Hypotension and Neurally Mediated Hypotension
The signs and symptoms of orthostatic hypotension and neurally mediated hypotension (NMH) are similar. They include:
Dizziness or light-headedness
Blurry vision
Confusion
Weakness
Fatigue (feeling tired)
Nausea (feeling sick to your stomach)
Orthostatic hypotension may happen within a few seconds or minutes of standing up after you've been sitting or lying down.
You may feel that you're going to faint, or you may actually faint. These signs and symptoms go away if you sit or lie down for a few minutes until your blood pressure adjusts to normal.
The signs and symptoms of NMH occur after standing for a long time or in response to an unpleasant, upsetting, or scary situation. The drop in blood pressure with NMH doesn't last long and often goes away after sitting down.
Severe Hypotension Linked to Shock
In shock, not enough blood and oxygen flow to the body's major organs, including the brain. The early signs and symptoms of reduced blood flow to the brain include light-headedness, sleepiness, and confusion.
In the earliest stages of shock, it may be hard to detect any signs or symptoms. In older people, the first symptom may only be confusion.
Over time, as shock worsens, a person won't be able to sit up without passing out. If the shock continues, the person will lose consciousness. Shock often is fatal if not treated right away.
Other signs and symptoms of shock vary, depending on what's causing the shock. When low blood volume (from major blood loss, for example) or poor pumping action in the heart (from heart failure, for example) causes shock:
The skin becomes cold and sweaty. It often looks blue or pale. If pressed, the color returns to normal more slowly than usual. A bluish network of lines appears under the skin.
The pulse becomes weak and rapid.
The person begins to breathe very quickly.
When extreme relaxation of blood vessels causes shock (such as in vasodilatory shock), a person feels warm and flushed at first. Later, the skin becomes cold and sweaty, and the person feels very sleepy.
Shock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911. |
symptoms | What are the symptoms of Spinocerebellar ataxia 31 ? | What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. 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) Late onset 50% Gaze-evoked horizontal nystagmus 33% Sensorineural hearing impairment 7.5% Ataxia - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Gait ataxia - Limb ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Mulibrey Nanism ? | What are the signs and symptoms of Mulibrey Nanism? Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face. Yellow discoloration of the eyes and other ocular abnormalities may be present, but vision is usually normal. More than 90 percent of affected individuals have a J-shaped sella turcica, which is a depression in the sphenoid bone at the base of the skull. Infants with mulibrey nanism may also have symptoms related to overgrowth of the fibrous sac surrounding the heart (constrictive pericarditis). When constrictive pericarditis is present at birth, affected infants may have a bluish discoloration of the skin (cyanosis), especially on the lips and fingertips. Individuals with MN typically have a high-pitched voice. Other symptoms may include abnormally prominent veins in the neck, congestion in the lungs, abnormal fluid accumulation in the abdomen (ascites), swelling of the arms and/or legs (peripheral edema), and/or enlargement of the heart (cardiac hypertrophy) and/or liver (hepatomegaly). There may also be elevated pressure in the veins, congestion or blockage in the main artery serving the lungs (pulmonary artery), and/or a build-up of fibrous tissue in the walls of the lungs (pulmonary fibrosis). Associated complications of these conditions may lead to congestive heart failure. In some cases, individuals with mulibrey nanism may have additional physical abnormalities, such as an unusually thin shinbone (fibrous tibia dysplasia). Large cerebral ventricles in the brain and delayed motor development are uncommon findings. Most affected individuals have normal intelligence. Individuals with mulibrey nanism often have underdevelopment of various endocrine glands, that leads to hormone deficiencies. Delayed puberty sometimes occurs, accompanied by infrequent or very light menstrual periods. Females have an increased risk for premature ovarian failure and ovarian tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Mulibrey Nanism. 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) Decreased body weight 90% Intrauterine growth retardation 90% Macrocephaly 90% Short stature 90% Hepatomegaly 50% Wide nasal bridge 50% Absent frontal sinuses - Astigmatism - Autosomal recessive inheritance - Congestive heart failure - Dental crowding - Depressed nasal bridge - Dolichocephaly - Dysarthria - Frontal bossing - High pitched voice - Hypertelorism - Hypodontia - Hypoplastic frontal sinuses - J-shaped sella turcica - Microglossia - Muscular hypotonia - Myocardial fibrosis - Nephroblastoma (Wilms tumor) - Nevus - Pericardial constriction - Pigmentary retinopathy - Strabismus - Triangular face - Ventriculomegaly - Weak voice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is isodicentric chromosome 15 syndrome inherited ? | Isodicentric chromosome 15 syndrome is usually not inherited. The chromosomal change that causes the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual. Most affected individuals have no history of the disorder in their family. |
frequency | How many people are affected by mal de Meleda ? | Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder was first identified on the Croatian island of Mjlet (called Meleda in Italian) and has since been found in populations worldwide. |
susceptibility | Who is at risk for High Blood Pressure? ? | Anyone can develop high blood pressure; however, age, race or ethnicity, being overweight, gender, lifestyle habits, and a family history of high blood pressure can increase your risk for developing high blood pressure.
Age
Blood pressure tends to rise with age. About 65 percent of Americans age 60 or older have high blood pressure. However, the risk for prehypertension and high blood pressure is increasing for children and teens, possibly due to the rise in the number of overweight children and teens.
Race/Ethnicity
High blood pressure is more common in African American adults than in Caucasian or Hispanic American adults. Compared with these ethnic groups, African Americans:
Tend to get high blood pressure earlier in life.
Often, on average, have higher blood pressure numbers.
Are less likely to achieve target blood pressure goals with treatment.
Overweight
You are more likely to develop prehypertension or high blood pressure if youre overweight or obese. The terms overweight and obese refer to body weight thats greater than what is considered healthy for a certain height.
Gender
Before age 55, men are more likely than women to develop high blood pressure. After age 55, women are more likely than men to develop high blood pressure.
Lifestyle Habits
Unhealthy lifestyle habits can raise your risk for high blood pressure, and they include:
Eating too much sodium or too little potassium
Lack of physical activity
Drinking too much alcohol
Stress
Family History
A family history of high blood pressure raises the risk of developing prehypertension or high blood pressure. Some people have a high sensitivity to sodium and salt, which may increase their risk for high blood pressure and may run in families. Genetic causes of this condition are why family history is a risk factor for this condition. |
inheritance | Is renal hypouricemia inherited ? | This condition is typically inherited in an autosomal recessive pattern, which means both copies of the SLC22A12 or SLC2A9 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 usually do not show signs and symptoms of the condition. Sometimes, individuals with one SLC2A9 gene mutation in each cell have reduced levels of uric acid. The levels usually are not as low as they are in people who have mutations in both copies of the gene, and they often do not cause any signs or symptoms. Rarely, people who carry one copy of the mutated gene will develop uric acid kidney stones. |
information | What is (are) Pendred syndrome ? | Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction. In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation. An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation. Pendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene. |
genetic changes | What are the genetic changes related to spinocerebellar ataxia type 1 ? | Mutations in the ATXN1 gene cause SCA1. The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in regulating various aspects of producing proteins, including the first stage of protein production (transcription) and processing RNA, a chemical cousin of DNA. The ATXN1 gene mutations that cause SCA1 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 4 to 39 times within the gene. In people with SCA1, the CAG segment is repeated 40 to more than 80 times. People with 40 to 50 repeats tend to first experience signs and symptoms of SCA1 in mid-adulthood, while people with more than 70 repeats usually have signs and symptoms by their teens. An increase in the length of the CAG segment leads to the production of an abnormally long version of the ataxin-1 protein that folds into the wrong 3-dimensional shape. This abnormal protein clusters with other proteins to form clumps (aggregates) within the nucleus of the cells. These aggregates prevent the ataxin-1 protein from functioning normally, which damages cells and leads to cell death. For reasons that are unclear, aggregates of ataxin-1 are found only in the brain and spinal cord (central nervous system). Cells within the cerebellum, which is the part of the brain that coordinates movement, are particularly sensitive to changes in ataxin-1 shape and function. Over time, the loss of the cells of the cerebellum causes the movement problems characteristic of SCA1. |
considerations | What to do for Autoimmune Hepatitis ? | Researchers have not found that eating, diet, and nutrition play a role in causing or preventing autoimmune hepatitis. |
symptoms | What are the symptoms of Tylosis with esophageal cancer ? | What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. Esophageal carcinoma usually develops in the lower two-thirds of the esophagus at an average age of 45 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Tylosis with esophageal cancer. 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 intestine 90% Esophageal neoplasm 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Palmoplantar keratoderma 90% Abnormality of the mediastinum 50% Ascites 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Weight loss 50% Clubbing of toes 7.5% Vocal cord paresis 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Diffuse palmoplantar hyperkeratosis - Esophageal carcinoma - Parakeratosis - 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) Adenoid cystic carcinoma ? | Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy. |
symptoms | What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ? | What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia of the earlobes 90% Camptodactyly of finger 90% Dental malocclusion 90% Malar flattening 90% Pectus carinatum 90% Pectus excavatum 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the palate 50% Anteverted nares 50% Brachydactyly syndrome 50% Cognitive impairment 50% Cubitus valgus 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Epicanthus 50% Hallux valgus 50% Intrauterine growth retardation 50% Mandibular prognathia 50% Melanocytic nevus 50% Microcephaly 50% Microcornea 50% Narrow chest 50% Narrow face 50% Narrow mouth 50% Seizures 50% Short nose 50% Short stature 50% Short toe 50% Spina bifida 50% Sprengel anomaly 50% Toe syndactyly 50% Underdeveloped supraorbital ridges 50% Blepharophimosis 7.5% Highly arched eyebrow 7.5% Long face 7.5% Low-set, posteriorly rotated ears 7.5% Sacral dimple 7.5% Short distal phalanx of finger 7.5% Synophrys 7.5% Abnormality of dental eruption - Absent ethmoidal sinuses - Absent frontal sinuses - Autosomal recessive inheritance - Bifid uvula - Brachycephaly - Camptodactyly of 2nd-5th fingers - Fibular hypoplasia - Flat face - High palate - Horizontal sacrum - Hypertelorism - Hypoplasia of midface - Hypoplastic 5th lumbar vertebrae - Hypoplastic iliac wing - Intellectual disability - Long neck - Low-set ears - Lumbar hyperlordosis - Microtia - Overfolding of the superior helices - Posteriorly rotated ears - Scapular winging - Short femoral neck - Short foot - Short metatarsal - Short palm - Short palpebral fissure - Small earlobe - Spina bifida occulta - Tubular metacarpal bones - Twelfth rib hypoplasia - Upslanted palpebral fissure - Wormian bones - 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 Urinary Tract Infection In Adults ? | Most UTIs are caused by bacteria, which are treated with bacteria-fighting medications called antibiotics or antimicrobials. The choice of medication and length of treatment depend on the patients history and the type of bacteria causing the infection. Some antibiotics may be ruled out if a person has allergies to them. The sensitivity test takes 48 hours to complete and is especially useful in helping the health care provider select the antibiotic most likely to be effective in treating an infection. Longer treatment may be needed if the first antibiotic given is not effective.
When a UTI occurs in a healthy person with a normal, unobstructed urinary tract, the term uncomplicated is used to describe the infection. Most young women who have UTIs have uncomplicated UTIs, which can be cured with 2 or 3 days of treatment. Single-dose treatment is less effective. Longer treatment causes more side effects and is not more effective. A follow-up urinalysis helps to confirm the urinary tract is infection-free. Taking the full course of treatment is important because symptoms may disappear before the infection is fully cleared.
Complicated UTIs occur when a personfor example, a pregnant woman or a transplant patientis weakened by another condition. A UTI is also complicated when the person has a structural or functional abnormality of the urinary tract, such as an obstructive kidney stone or prostate enlargement that squeezes the urethra. Health care providers should assume that men and boys have a complicated UTI until proven otherwise.
Severely ill patients with kidney infections may be hospitalized until they can take fluids and needed medications on their own. Kidney infections may require several weeks of antibiotic treatment. Kidney infections in adults rarely lead to kidney damage or kidney failure unless they go untreated or are associated with urinary tract obstruction.
Bladder infections are generally self-limiting, but antibiotic treatment significantly shortens the duration of symptoms. People usually feel better within a day or two of treatment. Symptoms of kidney and prostate infections last longer. Drinking lots of fluids and urinating frequently will speed healing. If needed, various medications are available to relieve the pain of a UTI. A heating pad on the back or abdomen may also help.
Recurrent Infections in Women
Health care providers may advise women who have recurrent UTIs to try one of the following treatment options:
- Take low doses of the prescribed antibiotic daily for 6 months or longer. If taken at bedtime, the medication remains in the bladder longer and may be more effective. NIH-supported research has shown this therapy to be effective without causing serious side effects. - Take a single dose of an antibiotic after sexual intercourse. - Take a short course2 or 3 daysof an antibiotic when symptoms appear.
To try to prevent an infection, health care providers may suggest women
- drink plenty of water every day - urinate when the need arises and avoid resisting the urge to urinate - urinate after sexual intercourse - switch to a different method of birth control if recurring UTIs are a problem
Infections during Pregnancy
During pregnancy, bacterial infection of the urineeven in the absence of symptomscan pose risks to both the mother and the baby. Some antibiotics are not safe to take during pregnancy. In selecting the best treatments, health care providers consider various factors such as the medications effectiveness, the stage of pregnancy, the mothers health, and potential effects on the fetus.
Complicated Infections
Curing infections that stem from a urinary obstruction or other systemic disorder depends on finding and correcting the underlying problem, sometimes with surgery. If the root cause goes untreated, this group of patients is at risk for kidney damage. Also, such infections tend to arise from a wider range of bacteria and sometimes from more than one type of bacteria at a time.
Infections in Men
Urinary tract infections in men are often the result of an obstructionfor example, a urinary stone or enlarged prostateor are from a catheter used during a medical procedure. The first step in treating such an infection is to identify the infecting organism and the medications to which it is sensitive.
Prostate infectionschronic bacterial prostatitisare harder to cure because antibiotics may be unable to penetrate infected prostate tissue effectively. For this reason, men with bacterial prostatitis often need long-term treatment with a carefully selected antibiotic. UTIs in men are frequently associated with acute bacterial prostatitis, which can be life threatening if not treated urgently. |
information | What is (are) Methylcobalamin deficiency cbl G type ? | Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. |
treatment | What are the treatments for Carney complex ? | These resources address the diagnosis or management of Carney complex: - Gene Review: Gene Review: Carney Complex - Genetic Testing Registry: Carney complex - Genetic Testing Registry: Carney complex, type 1 - Genetic Testing Registry: Carney complex, type 2 - MedlinePlus Encyclopedia: Atrial Myxoma - MedlinePlus Encyclopedia: Pituitary Tumor 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 |
outlook | What is the outlook for Hydrocephalus ? | The prognosis for individuals diagnosed with hydrocephalus is difficult to predict, although there is some correlation between the specific cause of hydrocephalus and the patient's outcome. Prognosis is further complicated by the presence of associated disorders, the timeliness of diagnosis, and the success of treatment. The symptoms of normal pressure hydrocephalus usually get worse over time if the condition is not treated, although some people may experience temporary improvements. If left untreated, progressive hydrocephalus is fatal, with rare exceptions. The parents of children with hydrocephalus should be aware that hydrocephalus poses risks to both cognitive and physical development. Treatment by an interdisciplinary team of medical professionals, rehabilitation specialists, and educational experts is critical to a positive outcome. Many children diagnosed with the disorder benefit from rehabilitation therapies and educational interventions, and go on to lead normal lives with few limitations. |
genetic changes | What are the genetic changes related to mucolipidosis III gamma ? | Mutations in the GNPTG gene cause mucolipidosis III gamma. This gene provides instructions for making one part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often "tagged" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome. Mutations in the GNPTG gene that cause mucolipidosis III gamma result in reduced activity of GlcNAc-1-phosphotransferase. These mutations disrupt the tagging of digestive enzymes with M6P, which prevents many enzymes from reaching the lysosomes. Digestive enzymes that do not receive the M6P tag end up outside the cell, where they have increased activity. The shortage of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III gamma, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis III gamma are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell. |
susceptibility | Who is at risk for ? ? | Measles: Make Sure Your Child Is Protected with MMR Vaccine Measles starts with a fever. Soon after, it causes a cough, runny nose, and red eyes. Then a rash of tiny, red spots breaks out. Measles can be serious for young children. Learn about protecting your child from measles with MMR vaccine. Protect your child at every age. Click on your child's age group for vaccine information. View or print age-specific vaccine information [252 KB, 27 pages] Records & Requirements Recording immunizations Finding immunization records Interpreting abbreviations on records Immunization requirements for child care and schools Making the Vaccine Decision How vaccines prevent diseases Vaccine side effects/risks Vaccine ingredients Ensuring vaccine safety Vaccines and your child’s immune system Learn More About Preteen and Teen Vaccines The Vaccines For Children program has helped prevent diseases and save lives…big time! [enlarged view] Watch The Immunization Baby Book Learn what vaccines your child needs, when they are needed, and why it is so important to follow the CDC’s recommended immunization schedule as you flip through this video baby book (4:04 mins) on CDC-TV or on YouTube. Who & When (Immunization Schedules) Birth through 6 Years Schedule [2 pages] Create a schedule for your child 7 through 18 Years Schedule [2 pages] 19 Years and Older Schedule [2 pages] Learn more about how CDC sets the immunization schedule for your family Knowing the childhood vaccination rates in your community is important. More Diseases and the Vaccines that Prevent Them Learn more about the 16 diseases that can be prevented with vaccines, as well as the benefits and risks of vaccination. Learn More About... Adoption and Vaccines Pregnancy Help Paying for Vaccines Evaluating Information on the Web |
treatment | What are the treatments for Short Bowel Syndrome ? | A health care provider will recommend treatment for short bowel syndrome based on a patient's nutritional needs. Treatment may include
- nutritional support - medications - surgery - intestinal transplant
Nutritional Support
The main treatment for short bowel syndrome is nutritional support, which may include the following:
- Oral rehydration. Adults should drink water, sports drinks, sodas without caffeine, and salty broths. Children should drink oral rehydration solutionsspecial drinks that contain salts and minerals to prevent dehydrationsuch as Pedialyte, Naturalyte, Infalyte, and CeraLyte, which are sold in most grocery stores and drugstores. - Parenteral nutrition. This treatment delivers fluids, electrolytes, and liquid vitamins and minerals into the bloodstream through an intravenous (IV) tubea tube placed into a vein. Health care providers give parenteral nutrition to people who cannot or should not get their nutrition or enough fluids through eating. - Enteral nutrition. This treatment delivers liquid food to the stomach or small intestine through a feeding tubea small, soft, plastic tube placed through the nose or mouth into the stomach. Gallstonessmall, pebblelike substances that develop in the gallbladderare a complication of enteral nutrition. More information is provided in the NIDDK health topic, Gallstones. - Vitamin and mineral supplements. A person may need to take vitamin and mineral supplements during or after parenteral or enteral nutrition. - Special diet. A health care provider can recommend a specific diet plan for the patient that may include - small, frequent feedings - avoiding foods that can cause diarrhea, such as foods high in sugar, protein, and fiber - avoiding high-fat foods
Medications
A health care provider may prescribe medications to treat short bowel syndrome, including
- antibiotics to prevent bacterial overgrowth - H2 blockers to treat too much gastric acid secretion - proton pump inhibitors to treat too much gastric acid secretion - choleretic agents to improve bile flow and prevent liver disease - bile-salt binders to decrease diarrhea - anti-secretin agents to reduce gastric acid in the intestine - hypomotility agents to increase the time it takes food to travel through the intestines, leading to increased nutrient absorption - growth hormones to improve intestinal absorption - teduglutide to improve intestinal absorption
Surgery
The goal of surgery is to increase the small intestine's ability to absorb nutrients. Approximately half of the patients with short bowel syndrome need surgery.2 Surgery used to treat short bowel syndrome includes procedures that
- prevent blockage and preserve the length of the small intestine - narrow any dilated segment of the small intestine - slow the time it takes for food to travel through the small intestine - lengthen the small intestine
Long-term treatment and recovery, which for some may take years, depend in part on
- what sections of the small intestine were removed - how much of the intestine is damaged - how well the muscles of the intestine work - how well the remaining small intestine adapts over time
Intestinal Transplant
An intestinal transplant is surgery to remove a diseased or an injured small intestine and replace it with a healthy small intestine from a person who has just died, called a donor. Sometimes a living donor can provide a segment of his or her small intestine.
Transplant surgeonsdoctors who specialize in performing transplant surgeryperform the surgery on patients for whom other treatments have failed and who have lifethreatening complications from long-term parenteral nutrition. An intestinal-transplant team performs the surgery in a hospital. The patient will need anesthesia. Complications of intestinal transplantation include infections and rejection of the transplanted organ.
A successful intestinal transplant can be a life-saving treatment for people with intestinal failure caused by short bowel syndrome. By 2008, transplant surgeons had performed almost 2,000 intestinal transplantations in the United Statesapproximately 75 percent of which were in patients younger than 18 years of age.3
A health care provider will tailor treatment to the severity of the patient's disease: - Treatment for mild short bowel syndrome involves eating small, frequent meals; drinking fluid; taking nutritional supplements; and using medications to treat diarrhea. - Treatment for moderate short bowel syndrome is similar to that for mild short bowel syndrome, with the addition of parenteral nutrition as needed. - Treatment for severe short bowel syndrome involves use of parenteral nutrition and oral rehydration solutions. Patients may receive enteral nutrition or continue normal eating, even though most of the nutrients are not absorbed. Both enteral nutrition and normal eating stimulate the remaining intestine to work better and may allow patients to discontinue parenteral nutrition. Some patients with severe short bowel syndrome require parenteral nutrition indefinitely or surgery. |
symptoms | What are the symptoms of Visceral steatosis ? | What are the signs and symptoms of Visceral steatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Visceral steatosis. 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 bleeding - Abnormality of the genitourinary system - Autosomal recessive inheritance - Coma - Hepatic steatosis - Hypocalcemia - Hypoglycemia - Jaundice - Kernicterus - Lethargy - Muscular hypotonia - Myocardial steatosis - Neonatal death - Renal steatosis - Seizures - 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. |
research | what research (or clinical trials) is being done for Oropharyngeal Cancer ? | New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. |
information | What is (are) sialic acid storage disease ? | Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease. Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen may be swollen due to the enlarged organs and an abnormal buildup of fluid in the abdominal cavity (ascites). Affected infants may have a condition called hydrops fetalis in which excess fluid accumulates in the body before birth. Children with this severe form of the condition usually live only into early childhood. Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems. Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). Individuals with Salla disease usually survive into adulthood. People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity. |
susceptibility | Who is at risk for Breast Cancer? ? | A family history of breast cancer and other factors increase the risk of breast 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 doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for breast cancer. Risk factors for breast cancer include the following: - A personal history of invasive breast cancer, ductal carcinoma in situ (DCIS), or lobular carcinoma in situ (LCIS). - A personal history of benign (noncancer) breast disease. - A family history of breast cancer in a first-degree relative (mother, daughter, or sister). - Inherited changes in the BRCA1 or BRCA2 genes or in other genes that increase the risk of breast cancer. - Breast tissue that is dense on a mammogram. - Exposure of breast tissue to estrogen made by the body. This may be caused by: - Menstruating at an early age. - Older age at first birth or never having given birth. - Starting menopause at a later age. - Taking hormones such as estrogen combined with progestin for symptoms of menopause. - Treatment with radiation therapy to the breast/chest. - Drinking alcohol. - Obesity. Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. NCI's Breast Cancer Risk Assessment Tool uses a woman's risk factors to estimate her risk for breast cancer during the next five years and up to age 90. This online tool is meant to be used by a health care provider. For more information on breast cancer risk, call 1-800-4-CANCER. |
symptoms | What are the symptoms of Spastic paraplegia 18 ? | What are the signs and symptoms of Spastic paraplegia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 18. 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) Hypoplasia of the corpus callosum 5% Intellectual disability 5% Seizures 5% Absent speech - Autosomal recessive inheritance - Babinski sign - Gait disturbance - High palate - Hyperreflexia - Kyphosis - Lower limb muscle weakness - Pes cavus - Progressive - Scoliosis - Skeletal muscle atrophy - Slow progression - Spastic paraplegia - Strabismus - Upper limb spasticity - 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 familial porencephaly ? | Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature. |
treatment | What are the treatments for age-related macular degeneration ? | These resources address the diagnosis or management of age-related macular degeneration: - BrightFocus Foundation: Macular Degeneration Treatment - Genetic Testing Registry: Age-related macular degeneration - Genetic Testing Registry: Age-related macular degeneration 1 - Genetic Testing Registry: Age-related macular degeneration 10 - Genetic Testing Registry: Age-related macular degeneration 11 - Genetic Testing Registry: Age-related macular degeneration 2 - Genetic Testing Registry: Age-related macular degeneration 3 - Genetic Testing Registry: Age-related macular degeneration 4 - Genetic Testing Registry: Age-related macular degeneration 7 - Genetic Testing Registry: Age-related macular degeneration 9 - Genetic Testing Registry: Susceptibility to age-related macular degeneration, wet type - Genetic Testing Registry: Susceptibility to neovascular type of age-related macular degeneration - Macular Degeneration Partnership: Low Vision Rehabilitation - Prevent Blindness America: Age-Related Macular Degeneration (AMD) Test - Amsler Grid 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) Liddle syndrome ? | Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal. In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis. |
frequency | How many people are affected by coloboma ? | Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed. |
symptoms | What are the symptoms of Childhood hypophosphatasia ? | What are the signs and symptoms of Childhood hypophosphatasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood hypophosphatasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bowing of the legs - Carious teeth - Craniosynostosis - Dolichocephaly - Elevated plasma pyrophosphate - Elevated urine pyrophosphate - Frontal bossing - Low alkaline phosphatase - Myopathy - Phosphoethanolaminuria - Premature loss of primary teeth - Proptosis - Rachitic rosary - Seizures - Short stature - Skin dimple over apex of long bone angulation - Waddling gait - 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. |
genetic changes | What are the genetic changes related to distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction). It is unclear how mutations in the TPM2 and MYBPC1 genes lead to the joint abnormalities characteristic of distal arthrogryposis type 1. However, researchers speculate that contractures may be related to problems with muscle contraction that limit the movement of joints before birth. In some cases, the genetic cause of distal arthrogryposis type 1 is unknown. Researchers are looking for additional genetic changes that may be responsible for this condition. |
causes | What causes Medullary Sponge Kidney ? | Scientists do not fully understand the cause of medullary sponge kidney or why cysts form in the tubules during fetal development. Even though medullary sponge kidney is present at birth, most cases do not appear to be inherited. |
information | What is (are) spondylocostal dysostosis ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spine abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities cause other signs and symptoms of spondylocostal dysostosis. Infants with this condition are born with small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia), particularly in males with spondylocostal dysostosis. There are several types of spondylocostal dysostosis, designated types 1 through 4 and the autosomal dominant (AD) type. These types have similar features and are distinguished by their genetic cause and inheritance pattern. Spondylocostal dysostosis has often been grouped with a similar condition called spondylothoracic dysostosis, and both are called Jarcho-Levin syndrome; however, they are now considered distinct conditions. |
prevention | How to prevent Hearing Loss ? | Washing your hands frequently can help prevent upper respiratory infections, which can lead to an ear infection called otitis media. The ear infection otitis media can be a cause of long-term hearing loss. Also, ask your doctor about a yearly flu shot to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. |
symptoms | What are the symptoms of Uterine Sarcoma ? | Signs of uterine sarcoma include abnormal bleeding. Abnormal bleeding from the vagina and other signs and symptoms may be caused by uterine sarcoma or by other conditions. Check with your doctor if you have any of the following: - Bleeding that is not part of menstrual periods. - Bleeding after menopause. - A mass in the vagina. - Pain or a feeling of fullness in the abdomen. - Frequent urination. |
treatment | What are the treatments for CHMP2B-related frontotemporal dementia ? | These resources address the diagnosis or management of CHMP2B-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: Frontotemporal Dementia, Chromosome 3-Linked - Genetic Testing Registry: Frontotemporal Dementia, Chromosome 3-Linked 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 prostate cancer ? | These resources address the diagnosis or management of prostate cancer: - American College of Radiology: Prostate Cancer Radiation Treatment - Genetic Testing Registry: Familial prostate cancer - Genetic Testing Registry: Prostate cancer, hereditary, 2 - MedlinePlus Encyclopedia: Prostate Brachytherapy - MedlinePlus Encyclopedia: Prostate Cancer Staging - MedlinePlus Encyclopedia: Prostate Cancer Treatment - MedlinePlus Encyclopedia: Prostate-Specific Antigen (PSA) Blood Test - MedlinePlus Encyclopedia: Radical Prostatectomy - MedlinePlus Health Topic: Prostate Cancer Screening - National Cancer Institute: Prostate-Specific Antigen (PSA) Test - U.S. Preventive Services Task Force 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 |
outlook | What is the outlook for Benign Essential Blepharospasm ? | With botulinum toxin treatment most individuals with BEB have substantial relief of symptoms. Although some may experience side effects such as drooping eyelids, blurred or double vision, and eye dryness, these side effects are usually only temporary. The condition may worsen or expand to surrounding muscles; remain the same for many years; and, in rare cases, improve spontaneously. |
information | What is (are) late-infantile neuronal ceroid lipofuscinosis ? | Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision impairment. Late-infantile NCL affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), progressive intellectual disability, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens. Late-infantile NCL is one of a group of NCLs (collectively called Batten disease) that affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. |
symptoms | What are the symptoms of Bartter syndrome antenatal type 1 ? | What are the signs and symptoms of Bartter syndrome antenatal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Hyposthenuria - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Low-to-normal blood pressure - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polyhydramnios - Polyuria - Premature birth - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Relapsing polychondritis ? | What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include: Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia. Joint: The second most common finding is joint pain with or without arthritis. Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP. Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle). Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed. Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others. Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The Human Phenotype Ontology provides the following list of signs and symptoms for Relapsing polychondritis. 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 nose 90% Arthralgia 90% Arthritis 90% Chondritis 90% Chondritis of pinna 90% External ear malformation 90% Abnormality of temperature regulation 50% Abnormality of the aortic valve 50% Abnormality of the pericardium 50% Abnormality of the voice 50% Aneurysm 50% Autoimmunity 50% Cartilage destruction 50% Cataract 50% Dilatation of the ascending aorta 50% Inflammatory abnormality of the eye 50% Limitation of joint mobility 50% Osteolysis 50% Periorbital edema 50% Proptosis 50% Sinusitis 50% Vasculitis 50% Vertigo 50% Abnormality of the endocardium 7.5% Abnormality of the liver 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Arrhythmia 7.5% Arterial thrombosis 7.5% Conductive hearing impairment 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Incoordination 7.5% Laryngomalacia 7.5% Myelodysplasia 7.5% Proteinuria 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Thrombophlebitis 7.5% Tinnitus 7.5% Tracheal stenosis 7.5% Tracheomalacia 7.5% Urticaria 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. |
symptoms | What are the symptoms of Erythromelalgia ? | What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. Erythromelalgia is usually a chronic or persistent condition, however there have been cases that have fully resolved with time. Many people with primary erythromelalgia have stable symptoms, however cases of progressive disease (symptoms worsening overtime) have also been described. Pain is a characteristic/classic feature of primary erythromelalgia. Unfortunately we were not able to find information specific to painless cases of this disorder, and outcomes of these individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Erythromelalgia. 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) Dysautonomia 5% Abnormality of the musculature - Autosomal dominant inheritance - Blurred vision - Constipation - Diarrhea - Hyperhidrosis - Juvenile onset - Myalgia - Pain - Palpitations - Xerostomia - 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. |
prevention | How to prevent What I need to know about Erectile Dysfunction ? | You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED.
Physical activity increases blood flow throughout your body, including your penis. Talk with your doctor before starting new activities. If you have not been active, start slow, with easier activities such as walking at a normal pace or gardening. Then you can work up to harder activities such as walking briskly or swimming. Try to aim for at least 30 minutes of activity most days of the week. |
causes | What causes Myelodysplastic syndromes ? | What causes myelodysplastic syndromes? It is known that the abnormal development of blood cells associated with myelodysplastic syndromes (MDS) develops as the result of a series of somatic genetic changes - mutations that are not inherited that arise after conception - in cells that later become blood cells. These changes alter normal cell growth and differentiation, resulting in the accumulation of abnormal, immature cells in the bone marrow, thus leading to the signs and symptoms of MDS. Some recurring chromosome abnormalities and translocations have been identified and can affect treatment planning and prognosis. Many times the underlying cause of MDS is unknown (idiopathic MDS). Sometimes, MDS can develop after chemotherapy and radiation treatment for cancer or autoimmune diseases (secondary MDS). There are also some possible risk factors for developing the condition. Having a risk factor does not mean that an individual will get MDS; not having risk factors doesnt mean that an individual will not get MDS. Possible risk factors for MDS may include past treatment with chemotherapy or radiation therapy; exposure to some chemicals (pesticides and benzene); exposure to heavy metals (such as mercury or lead); cigarette smoking; viral infections; being over 60 years of age; and being male or white. The majority of individuals developing MDS have no obvious connection with environmental hazards. MDS also sometimes runs in families, which suggests a potential genetic link with the disease; however, no disease causing gene has been identified. |
treatment | What are the treatments for Childhood Astrocytomas ? | Key Points
- There are different types of treatment for patients with childhood astrocytoma. - Children with astrocytomas should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. - Childhood brain 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. - Six types of treatment are used: - Surgery - Observation - Radiation therapy - Chemotherapy - High-dose chemotherapy with stem cell transplant - Targeted therapy - New types of treatment are being tested in clinical trials. - Other drug therapy - If fluid builds up around the brain and spinal cord, a cerebrospinal fluid diversion procedure may be done. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with childhood astrocytoma.
Different types of treatment are available for children with astrocytomas. 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. Some clinical trials are open only to patients who have not started treatment.
Children with astrocytomas should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors.
Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other healthcare 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. - Pediatric neurosurgeon. - Neurologist. - Neuropathologist. - Neuroradiologist. - Rehabilitation specialist. - Radiation oncologist. - Endocrinologist. - Psychologist.
Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years.
Signs or symptoms caused by the tumor may begin before diagnosis. These signs or symptoms may continue for months or years. It is important to talk with your child's doctors about signs or symptoms caused by the tumor that may continue after treatment.
Some cancer treatments cause side effects months or years after treatment has ended.
Side effects from cancer treatment that begin during or after treatment and continue for months or years 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.)
Six types of treatment are used:
Surgery Surgery is used to diagnose and treat childhood astrocytoma, as discussed in the General Information section of this summary. If cancer cells remain after surgery, further treatment depends on: - Where the remaining cancer cells are. - The grade of the tumor. - The age of the child. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that remain. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Observation may be used: - If the patient has no symptoms, such as patients with neurofibromatosis type1. - If the tumor is small and is found when a different health problem is being diagnosed or treated. - After the tumor is removed by surgery until signs or symptoms appear or change. 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. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) external radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Stereotactic radiation therapy: Stereotactic radiation therapy is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims radiation directly at the tumor. The total dose of radiation is divided into several smaller doses given over several days. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Proton beam radiation therapy: Proton-beam therapy is a type of high-energy, external radiation therapy. A radiation therapy machine aims streams of protons (tiny, invisible, positively-charged particles) at the cancer cells to kill them. - 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 tumor and where the tumor formed in the brain or spinal cord. External radiation therapy is used to treat childhood astrocytomas. Radiation therapy to the brain can affect growth and development, especially in young children. For children younger than 3 years, chemotherapy may be given instead, to delay or reduce the need for radiation therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type of tumor and where the tumor formed in the brain or spinal cord. Systemic combination chemotherapy is used in the treatment of children with astrocytoma. High-dose chemotherapy may be used in the treatment of children with newly diagnosed high-grade astrocytoma. 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 body's blood cells. For high-grade astrocytoma that has come back after treatment, high-dose chemotherapy with stem cell transplant is used if there is only a small amount of tumor. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. There are different types of targeted therapy: - Monoclonal antibody therapy uses antibodies made in the laboratory, from a single type of immune system cell, to stop cancer cells. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion into a vein. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. There are different types of monoclonal antibody therapy: - Vascular endothelial growth factor (VEGF) inhibitor therapy: Cancer cells make a substance called VEGF, which causes new blood vessels to form (angiogenesis) and helps the cancer grow. VEGF inhibitors block VEGF and stop new blood vessels from forming. This may kill cancer cells because they need new blood vessels to grow. Bevacizumab is a VEGF inhibitor and angiogenesis inhibitor being used to treat childhood astrocytoma. - Immune checkpoint inhibitor therapy: PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. PD-1 inhibitors are being studied to treat high-grade astrocytoma that has recurred. - Protein kinase inhibitors work in different ways. There are several kinds of protein kinase inhibitors. - mTOR inhibitors stop cells from dividing and may prevent the growth of new blood vessels that tumors need to grow. Everolimus and sirolimus are mTOR inhibitors used to treat childhood subependymal giant cell astrocytomas. mTOR inhibitors also are being studied to treat low-grade astrocytoma that has recurred. - BRAF inhibitors block proteins needed for cell growth and may kill cancer cells. The BRAF inhibitor dabrafenib is being studied to treat low-grade astrocytoma that has recurred. Vemurafenib and dabrafenib have been used to treat high-grade astrocytomas that have recurred but more study is needed to know how well they work in children. - MEK inhibitors block proteins needed for cell growth and may kill cancer cells. MEK inhibitors such as selumetinib are being studied to treat low-grade astrocytoma that has recurred. See Drugs Approved for Brain Tumors for more information.
New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Other drug therapy Lenalidomide is a type of angiogenesis inhibitor. It prevents the growth of new blood vessels that are needed by a tumor to grow.
If fluid builds up around the brain and spinal cord, a cerebrospinal fluid diversion procedure may be done.
Cerebrospinal fluid diversion is a method used to drain fluid that has built up around the brain and spinal cord. A shunt (long, thin tube) is placed in a ventricle (fluid-filled space) of the brain and threaded under the skin to another part of the body, usually the abdomen. The shunt carries extra fluid away from the brain so it may be absorbed elsewhere in the body.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. (See the General Information section for a list of tests.) 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. Regular MRIs will continue to be done after treatment has ended. The results of the MRI can show if your child's condition has changed or if the astrocytoma has recurred (come back). If the results of the MRI show a mass in the brain, a biopsy may be done to find out if it is made up of dead tumor cells or if new cancer cells are growing.
Treatment Options for Childhood Astrocytomas
Newly Diagnosed Childhood Low-Grade Astrocytomas
When the tumor is first diagnosed, treatment for childhood low-grade astrocytoma depends on where the tumor is, and is usually surgery. An MRI is done after surgery to see if there is tumor remaining. If the tumor was completely removed by surgery, more treatment may not be needed and the child is closely watched to see if signs or symptoms appear or change. This is called observation. If there is tumor remaining after surgery, treatment may include the following: - Observation. - A second surgery to remove the tumor. - Radiation therapy, which may include conformal radiation therapy, intensity-modulated radiation therapy, proton beam radiation therapy, or stereotactic radiation therapy, when the tumor begins to grow again. - Combination chemotherapy with or without radiation therapy. In some cases, observation is used for children who have a visual pathway glioma. In other cases, treatment may include surgery to remove the tumor, radiation therapy, or chemotherapy. A goal of treatment is to save as much vision as possible. The effect of tumor growth on the child's vision will be closely followed during treatment. Children with neurofibromatosis type 1 (NF1) may not need treatment unless the tumor grows or signs or symptoms, such as vision problems, appear. When the tumor grows or signs or symptoms appear, treatment may include surgery to remove the tumor, radiation therapy, and/or chemotherapy. Children with tuberous sclerosis may develop benign (not cancer) tumors in the brain called subependymal giant cell astrocytomas (SEGAs). Targeted therapy with everolimus or sirolimus may be used instead of surgery, to shrink the tumors. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood low-grade untreated astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
Recurrent Childhood Low-Grade Astrocytomas
When low-grade astrocytoma recurs after treatment, it usually comes back where the tumor first formed. Before more cancer treatment is given, imaging tests, biopsy, or surgery are done to find out if there is cancer and how much there is. Treatment of recurrent childhood low-grade astrocytoma may include the following: - A second surgery to remove the tumor, if surgery was the only treatment given when the tumor was first diagnosed. - Radiation therapy to the tumor only, if radiation therapy was not used when the tumor was first diagnosed. Conformal radiation therapy may be given. - Chemotherapy, if the tumor recurred where it cannot be removed by surgery or the patient had radiation therapy when the tumor was first diagnosed. - Targeted therapy with a monoclonal antibody (bevacizumab) with or without chemotherapy. - A clinical trial of targeted therapy with a BRAF inhibitor (dabrafenib), an mTOR inhibitor (everolimus), or a MEK inhibitor (selumetinib). - A clinical trial of lenalidomide. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
Newly Diagnosed Childhood High-Grade Astrocytomas
Treatment of childhood high-grade astrocytoma may include the following: - Surgery to remove the tumor, followed by chemotherapy and/or radiation therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood high-grade untreated astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
Recurrent Childhood High-Grade Astrocytomas
When high-grade astrocytoma recurs after treatment, it usually comes back where the tumor first formed. Before more cancer treatment is given, imaging tests, biopsy, or surgery are done to find out if there is cancer and how much there is. Treatment of recurrent childhood high-grade astrocytoma may include the following: - Surgery to remove the tumor. - High-dose chemotherapy with stem cell transplant. - Targeted therapy with a BRAF inhibitor (vemurafenib or dabrafenib). - A clinical trial of targeted therapy with an immune checkpoint inhibitor. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. |
causes | What causes What I need to know about Gestational Diabetes ? | Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. Insulin helps your body use glucose for energy and helps control your blood glucose levels.
During pregnancy, your body makes more hormones and goes through other changes, such as weight gain. These changes cause your body's cells to use insulin less effectively, a condition called insulin resistance. Insulin resistance increases your body's need for insulin. If your pancreas can't make enough insulin, you will have gestational diabetes.
All pregnant women have some insulin resistance during late pregnancy. However, some women have insulin resistance even before they get pregnant, usually because they are overweight. These women start pregnancy with an increased need for insulin and are more likely to have gestational diabetes.
What are my chances of getting gestational diabetes? Your chances of getting gestational diabetes are higher if you - are overweight - have had gestational diabetes before - have given birth to a baby weighing more than 9 pounds - have a parent, brother, or sister with type 2 diabetes - have prediabetes, meaning your blood glucose levels are higher than normal yet not high enough for a diagnosis of diabetes - are African American, American Indian, Asian American, Hispanic/Latina, or Pacific Islander American - have a hormonal disorder called polycystic ovary syndrome, also known as PCOS |
symptoms | What are the symptoms of Amyotrophic lateral sclerosis ? | What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. 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) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Degeneration of anterior horn cells - Degeneration of the lateral corticospinal tracts - Fasciculations - Heterogeneous - Hyperreflexia - Muscle cramps - Muscle weakness - Pseudobulbar paralysis - Skeletal muscle atrophy - Sleep apnea - Spasticity - 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. |
considerations | What to do for What I need to know about Physical Activity and Diabetes ? | - Starting a physical activity program can help you lose weight or keep a healthy weight and keep your blood glucose levels on target. - Always talk with your health care team before you start a new physical activity program. - Ask your health care team if you need to change the amount of medicine you take or the food you eat before any physical activity. - Talk with your health care team about what types of physical activity are safe for you, such as walking, weightlifting, or housework. - To make sure you stay active, find activities you like to do. Ask a friend or family member to be your exercise buddy. - Write down your blood glucose levels and when and how long you are physically active in a record book. - Doctors suggest that you aim for 30 to 60 minutes of moderate to vigorous physical activity most days of the week. - Children and adolescents with type 2 diabetes who are 10 to 17 years old should aim for 60 minutes of moderate to vigorous activity every day. - Not all physical activity has to take place at the same time. For example, you might take a walk for 20 minutes, lift hand weights for 10 minutes, and walk up and down the stairs for 5 minutes. - Doing moderate to vigorous aerobic exercise for 30 to 60 minutes a day most days of the week provides many benefits. You can even split up these minutes into several parts. - Start exercising slowly, with 5 to 10 minutes a day, and add a little more time each week. Try walking briskly, hiking, or climbing stairs. - Whether youre a man or a woman, you can do strength training with hand weights, elastic bands, or weight machines two to three times a week. - Stretching exercises are a light to moderate physical activity that both men and women can do. When you stretch, you increase your flexibility, lower your stress, and help prevent sore muscles. - Increase daily activity by spending less time watching TV or at the computer. - Try these simple ways to add light, moderate, or vigorous physical activities in your life every day: - Walk around while you talk on the phone. - Take a walk through your neighborhood. - Do chores, such as work in the garden or rake leaves, clean the house, or wash the car. - If you have type 1 diabetes, try not to do vigorous physical activity when you have ketones in your blood or urine. |
information | What is (are) benign chronic pemphigus ? | Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather. The severity of benign chronic pemphigus varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as "benign" (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma. Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing benign chronic pemphigus. |
genetic changes | What are the genetic changes related to Snyder-Robinson syndrome ? | Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies suggest that these molecules play roles in cell growth and division, the production of new proteins, the repair of damaged tissues, the function of molecules called ion channels, and the controlled self-destruction of cells (apoptosis). Polyamines appear to be necessary for normal development and function of the brain and other parts of the body. Mutations in the SMS gene greatly reduce or eliminate the activity of spermine synthase, which decreases the amount of spermine in cells. A shortage of this polyamine clearly impacts normal development, including the development of the brain, muscles, and bones, but it is unknown how it leads to the specific signs and symptoms of Snyder-Robinson syndrome. |
symptoms | What are the symptoms of Viral Gastroenteritis ? | The main symptoms of viral gastroenteritis are
- watery diarrhea - vomiting
Other symptoms include
- headache - fever - chills - abdominal pain
Symptoms usually appear within 12 to 48 hours after exposure to a gastroenteritis-causing virus and last for 1 to 3 days. Some viruses cause symptoms that last longer. |
information | What is (are) Wilson disease ? | Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. |
information | What is (are) chorea-acanthocytosis ? | Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells. In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures. Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak. Behavioral changes are a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself. The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis. |
information | What is (are) Colorectal Cancer ? | Key Points
- Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. - Colorectal cancer is the second leading cause of death from cancer in the United States. - Different factors increase or decrease the risk of getting colorectal cancer.
Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum.
The colon and rectum are parts of the body's digestive system. The digestive system removes and processes 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 mouth, throat, 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). Cancer that begins in the colon is called colon cancer, and cancer that begins in the rectum is called rectal cancer. Cancer that begins in either of these organs may also be called colorectal cancer. See the following PDQ summaries for more information about colorectal cancer: - Colorectal Cancer Prevention - Colon Cancer Treatment - Rectal Cancer Treatment - Genetics of Colorectal Cancer
Colorectal cancer is the second leading cause of death from cancer in the United States.
The number of new colorectal cancer cases and the number of deaths from colorectal cancer are decreasing a little bit each year. But in adults younger than 50 years, there has been a small increase in the number of new cases each year since 1998. Colorectal cancer is found more often in men than in women. |
treatment | What are the treatments for Axial spondylometaphyseal dysplasia ? | How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution. The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy. Further medical support resources can be found through the Little People of America, Inc. |
information | What is (are) Andermann syndrome ? | Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder. People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors). They typically begin walking between ages 3 and 4 and lose this ability by their teenage years. As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. Most affected individuals also develop abnormal curvature of the spine (scoliosis), which may require surgery. Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from the brain and extend to various areas of the head and neck. Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some experience seizures. They may also develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes. Andermann syndrome is associated with a shortened life expectancy, but affected individuals typically live into adulthood. |
information | What is (are) HIV/AIDS and Pregnancy ? | If you have HIV/AIDS and find out you are pregnant or think you may be pregnant, you should let your health care provider know as soon as possible. Some HIV/AIDS medicines may harm your baby. Your health care provider may want you to take different medicines or change the doses. It is also possible to give HIV to your baby. This is most likely to happen around the time you give birth. For this reason, treatment during this time is very important for protecting your baby from infection. Several treatments may prevent the virus from spreading from you to your baby. Your health care provider can recommend the best one for you. Your baby will also need to have treatment for at least the first six weeks of life. Regular testing will be needed to find out if your baby is infected. |
information | what types of infections does vancomycin-resistant enterococci cause? | On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006 |
information | What is (are) Dry Mouth ? | For information about the clinical trial on this topic, visit: http://www.clinicaltrials.gov/ct/show/NCT00372320?order=1. If you would like to read an interview with Dr. Bruce Baum, the study's principal investigator, click on: http://www.nidcr.nih.gov/Research/ ResearchResults/InterviewsOHR/TIS032007.htm. |
inheritance | Is Klinefelter syndrome inherited ? | Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Mosaic 46,XY/47,XXY is also not inherited. It occurs as a random event during cell division early in fetal development. As a result, some of the body's cells have one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY). |
frequency | How many people are affected by FG syndrome ? | The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders. |
susceptibility | Who is at risk for Pericarditis? ? | Pericarditis occurs in people of all ages. However, men aged 20 to 50 are more likely to develop it than others.
People who are treated for acute pericarditis may get it again. This may happen in 15 to 30 percent of people who have the condition. A small number of these people go on to develop chronic pericarditis. |
symptoms | What are the symptoms of Heart Palpitations ? | Symptoms of palpitations include feelings that your heart is:
Skipping a beat
Fluttering
Beating too hard or too fast
You may have these feelings in your chest, throat, or neck. They can occur during activity or even when you're sitting still or lying down.
Palpitations often are harmless, and your heart is working normally. However, these feelings can be a sign of a more serious problem if you also:
Feel dizzy or confused
Are light-headed, think you may faint, or do faint
Have trouble breathing
Have pain, pressure, or tightness in your chest, jaw, or arms
Feel short of breath
Have unusual sweating
Your doctor may have already told you that your palpitations are harmless. Even so, see your doctor again if your palpitations:
Start to occur more often or are more noticeable or bothersome
Occur with other symptoms, such as those listed above
Your doctor will want to check whether your palpitations are the symptom of a heart problem, such as an arrhythmia (irregular heartbeat). |
information | What is (are) Chronic Neutrophilic Leukemia ? | Chronic neutrophilic leukemia is a disease in which too many blood stem cells become a type of white blood cell called neutrophils. Neutrophils are infection -fighting blood cells that surround and destroy dead cells and foreign substances (such as bacteria). The spleen and liver may swell because of the extra neutrophils. Chronic neutrophilic leukemia may stay the same or it may progress quickly to acute leukemia. |
treatment | What are the treatments for platyspondylic lethal skeletal dysplasia, Torrance type ? | These resources address the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type: - Genetic Testing Registry: Platyspondylic lethal skeletal dysplasia Torrance type - MedlinePlus Encyclopedia: Lordosis 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) Amblyopia ? | Amblyopia, or "lazy eye," is the most common cause of visual impairment in children. It happens when an eye fails to work properly with the brain. The eye may look normal, but the brain favors the other eye. In some cases, it can affect both eyes. Causes include - Strabismus - a disorder in which the two eyes don't line up in the same direction - Refractive error in an eye - when one eye cannot focus as well as the other, because of a problem with its shape. This includes nearsightedness, farsightedness, and astigmatism. - Cataract - a clouding in the lens of the eye It can be hard to diagnose amblyopia. It is often found during a routine vision exam. Treatment for amblyopia forces the child to use the eye with weaker vision. There are two common ways to do this. One is to have the child wear a patch over the good eye for several hours each day, over a number of weeks to months. The other is with eye drops that temporarily blur vision. Each day, the child gets a drop of a drug called atropine in the stronger eye. It is also sometimes necessary to treat the underlying cause. This could include glasses or surgery. NIH: National Eye Institute |
information | What is (are) Fabry disease ? | Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys. |
symptoms | What are the symptoms of Osteopetrosis autosomal dominant type 2 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. 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 epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Facial palsy 90% Frontal bossing 90% Joint dislocation 90% Macrocephaly 90% Osteoarthritis 90% Osteomyelitis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Anemia 50% Genu valgum 50% Optic atrophy 50% Short stature 50% Visual impairment 50% Abnormality of leukocytes 7.5% Carious teeth 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypocalcemia 7.5% Bone marrow hypocellularity 5% Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral endplates - Autosomal dominant inheritance - Elevated serum acid phosphatase - Facial paralysis - Fractures of the long bones - Generalized osteosclerosis - Hip osteoarthritis - Juvenile onset - Mandibular osteomyelitis - Osteopetrosis - 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. |
complications | What are the complications of Alagille Syndrome ? | The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below.
Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor.
Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems.
Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth.
Malabsorption. People with Alagille syndrome may have diarrhealoose, watery stoolsdue to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays.
Long-term Outlook
The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.3
Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems. |
information | What is (are) Heart Block ? | Heart block is a problem that occurs with the heart's electrical system. This system controls the rate and rhythm of heartbeats. ("Rate" refers to the number of times your heart beats per minute. "Rhythm" refers to the pattern of regular or irregular pulses produced as the heart beats.)
With each heartbeat, an electrical signal spreads across the heart from the upper to the lower chambers. As it travels, the signal causes the heart to contract and pump blood.
Heart block occurs if the electrical signal is slowed or disrupted as it moves through the heart.
Overview
Heart block is a type of arrhythmia (ah-RITH-me-ah). An arrhythmia is any problem with the rate or rhythm of the heartbeat.
Some people are born with heart block, while others develop it during their lifetimes. If you're born with the condition, it's called congenital (kon-JEN-ih-tal) heart block. If the condition develops after birth, it's called acquired heart block.
Doctors might detect congenital heart block before or after a baby is born. Certain diseases that may occur during pregnancy can cause heart block in a baby. Some congenital heart defects also can cause heart block. Congenital heart defects are problems with the heart's structure that are present at birth. Often, doctors don't know what causes these defects.
Acquired heart block is more common than congenital heart block. Damage to the heart muscle or its electrical system causes acquired heart block. Diseases, surgery, or medicines can cause this damage.
The three types of heart block are first degree, second degree, and third degree. First degree is the least severe, and third degree is the most severe. This is true for both congenital and acquired heart block.
Doctors use a test called an EKG (electrocardiogram) to help diagnose heart block. This test detects and records the heart's electrical activity. It maps the data on a graph for the doctor to review.
Outlook
The symptoms and severity of heart block depend on which type you have. First-degree heart block may not cause any severe symptoms.
Second-degree heart block may result in the heart skipping a beat or beats. This type of heart block also can make you feel dizzy or faint.
Third-degree heart block limits the heart's ability to pump blood to the rest of the body. This type of heart block may cause fatigue (tiredness), dizziness, and fainting. Third-degree heart block requires prompt treatment because it can be fatal.
A medical device called a pacemaker is used to treat third-degree heart block and some cases of second-degree heart block. This device uses electrical pulses to prompt the heart to beat at a normal rate. Pacemakers typically are not used to treat first-degree heart block.
All types of heart block may increase your risk for other arrhythmias, such as atrial fibrillation (A-tre-al fih-brih-LA-shun). Talk with your doctor to learn more about the signs and symptoms of arrhythmias. |
exams and tests | How to diagnose Liddle syndrome ? | How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium levels), decreased or normal plasma levels of renin and aldosterone, metabolic alkalosis with high sodium plasma levels, and low rates of urinary excretion of sodium and aldosterone with high rates of urinary potassium excretion. The diagnosis can be further confirmed by genetic testing. |
information | What is (are) Leigh's Disease ? | Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.
In Leighs disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements.The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions.
There is also a form of Leighs disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome. |
symptoms | What are the symptoms of Cyclic Vomiting Syndrome ? | The main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. A person may also experience one or more of the following symptoms:
- retching, or making an attempt to vomit - heaving or gagging - lack of appetite - abdominal pain - diarrhea - fever - dizziness - headache - sensitivity to light
Intensity of symptoms will vary as a person cycles through four distinct phases of an episode:
- Prodrome phase. During the prodrome phase, the person feels that an episode of nausea and vomiting is about to start. Often marked by intense sweating and nauseawith or without abdominal painthis phase can last from a few minutes to several hours. The person may appear unusually pale. - Vomiting phase. This phase consists of intense nausea, vomiting, and retching. Periods of vomiting and retching can last 20 to 30 minutes at a time. The person may be subdued and responsive, immobile and unresponsive, or writhing and moaning with intense abdominal pain. An episode can last from hours to days. - Recovery phase. This phase begins when the vomiting and retching stop and the nausea subsides. Improvement of symptoms during the recovery phase can vary. Healthy color, appetite, and energy return gradually or right away. - Well phase. This phase occurs between episodes when no symptoms are present. |
symptoms | What are the symptoms of Congenital anosmia ? | What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. 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) Anosmia - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Frasier syndrome ? | These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic 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 |
research | what research (or clinical trials) is being done for Penile Cancer ? | 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. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers helps kill more tumor cells. Sentinel lymph node biopsy followed by surgery Sentinel lymph node biopsy is the removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. After the sentinel lymph node biopsy, the surgeon removes the cancer.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. |
information | What is (are) Epilepsy ? | Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke |
frequency | How many people are affected by early-onset primary dystonia ? | Early-onset primary dystonia is among the most common forms of childhood dystonia. This disorder occurs most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in this population. The condition is less common among people with other backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people worldwide. |
information | What is (are) Depression ? | Depression is a serious medical illness. It's more than just a feeling of being sad or "blue" for a few days. If you are one of the more than 19 million teens and adults in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include - Feeling sad or "empty" - Loss of interest in favorite activities - Overeating, or not wanting to eat at all - Not being able to sleep, or sleeping too much - Feeling very tired - Feeling hopeless, irritable, anxious, or guilty - Aches or pains, headaches, cramps, or digestive problems - Thoughts of death or suicide Depression is a disorder of the brain. There are a variety of causes, including genetic, biological, environmental, and psychological factors. Depression can happen at any age, but it often begins in teens and young adults. It is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants, talk therapy, or both. NIH: National Institute of Mental Health |
information | What is (are) fumarase deficiency ? | Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood. |
exams and tests | How to diagnose Bronchiolitis obliterans organizing pneumonia ? | How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis. |
symptoms | What are the symptoms of Trichorhinophalangeal syndrome type 1 ? | What are the signs and symptoms of Trichorhinophalangeal syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormally low-pitched voice - Accelerated bone age after puberty - Arthralgia - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Carious teeth - Chin with horizontal crease - Concave nail - Cone-shaped epiphyses of the middle phalanges of the hand - Cone-shaped epiphyses of the proximal phalanges of the hand - Coxa magna - Deep philtrum - Delayed eruption of teeth - Delayed skeletal maturation - Dental malocclusion - Fine hair - Flat capital femoral epiphysis - Infantile muscular hypotonia - Ivory epiphyses of the distal phalanges of the hand - Leukonychia - Microdontia - Narrow palate - Osteoarthritis - Osteopenia - Pear-shaped nose - Pes planus - Protruding ear - Recurrent respiratory infections - Scapular winging - Short metacarpal - Short metatarsal - Slow-growing hair - Sparse hair - Sparse lateral eyebrow - Swelling of proximal interphalangeal joints - Thin nail - 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. |
research | what research (or clinical trials) is being done for Oral Cavity and Oropharyngeal Cancer ? | Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.
New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials.
Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for oral cavity cancer prevention trials and oropharyngeal cancer prevention trials that are now accepting patients. |
information | What is (are) Stuttering ? | Stuttering is a problem that affects the flow of your speech. If you stutter, you may - Make certain words sound longer than they should be - Find it hard to start a new word - Repeat words or parts of words - Get tense when you try to speak. You may blink your eyes rapidly, or your lips and jaw may tremble as you struggle to get the words out. Stuttering can affect anyone. It is most common in young children who are still learning to speak. Boys are three times more likely to stutter than girls. Most children stop stuttering as they grow older. Less than 1 percent of adults stutter. Scientists don't fully understand why some people stutter. The problem seems to run in families. There is no cure, but treatments can help. They include stuttering therapy, electronic devices, and self-help groups. Starting stuttering therapy early for young children can keep it from becoming a lifelong problem. NIH: National Institute on Deafness and Other Communication Disorders |
frequency | How many people are affected by thiamine-responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome has been reported in approximately 30 families worldwide. Its prevalence is unknown. |
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