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genetic changes | What are the genetic changes related to Loeys-Dietz syndrome ? | The four types of Loeys-Dietz syndrome are distinguished by their genetic cause: mutations in the TGFBR1 gene cause type I, mutations in the TGFBR2 gene cause type II, mutations in the SMAD3 gene cause type III, and mutations in the TGFB2 gene cause type IV. These four genes play a role in cell signaling that promotes growth and development of the body's tissues. This signaling pathway also helps with bone and blood vessel development and plays a part in the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells. Mutations in the TGFBR1, TGFBR2, TGFB2, and SMAD3 genes result in the production of proteins with little or no function. Even though these proteins have severely reduced function, cell signaling occurs at an even greater intensity than normal. Researchers speculate that the activity of proteins in this signaling pathway is increased to compensate for the protein whose function is reduced; however, the exact mechanism responsible for the increase in signaling is unclear. The overactive signaling pathway disrupts the development of connective tissue, the extracellular matrix, and various body systems, leading to the varied signs and symptoms of Loeys-Dietz syndrome. |
frequency | How many people are affected by vitelliform macular dystrophy ? | Vitelliform macular dystrophy is a rare disorder; its incidence is unknown. |
symptoms | What are the symptoms of Glass-Chapman-Hockley syndrome ? | What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing together or fusing of the coronal suture. The coronal suture is found between the parts of the skull called the frontal bone and the two parietal bones. Forehead tends to be recessed and flattened. Eye socket is elevated and tilted with protruding eyes. Nose slants to one side. Very small fingers (brachydactyl). The Human Phenotype Ontology provides the following list of signs and symptoms for Glass-Chapman-Hockley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the distal phalanx of finger 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Frontal bossing 90% Malar flattening 90% Tapered finger 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Noonan syndrome ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. |
inheritance | Is Alzheimer disease inherited ? | The early-onset form of Alzheimer disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. The inheritance pattern of late-onset Alzheimer disease is uncertain. People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer disease, not the disease itself. Not all people with Alzheimer disease have the e4 allele, and not all people who have the e4 allele will develop the disease. |
treatment | What are the treatments for Reticulohistiocytoma ? | How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure. |
inheritance | Is achondroplasia inherited ? | Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These individuals are usually stillborn or die shortly after birth from respiratory failure. |
causes | What causes Heart Failure ? | Heart failure is caused by other diseases and conditions that damage the heart muscle. It is most commonly caused by coronary artery disease, including heart attack. Diabetes and high blood pressure also contribute to heart failure risk. People who have had a heart attack are at high risk of developing heart failure. |
information | What is (are) Periventricular heterotopia ? | Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications. |
information | What is (are) Duane syndrome type 1 ? | Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). |
susceptibility | Who is at risk for Oral Cavity and Oropharyngeal Cancer? ? | Key Points
- Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for oral cavity cancer and oropharyngeal cancer: - Tobacco use - Alcohol use - Tobacco and alcohol use - Betel quid or gutka chewing - Personal history of head and neck cancer - The following is a risk factor for oropharyngeal cancer: - HPV infection - The following is a protective factor for oral cavity cancer and oropharyngeal cancer: - Quitting smoking - It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer. - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials.
Avoiding risk factors and increasing protective factors may help prevent cancer.
Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. Oral cavity cancer and oropharyngeal cancer are two different diseases, but they have some risk factors in common.
The following are risk factors for oral cavity cancer and oropharyngeal cancer:
Tobacco use Using tobacco is the most common cause of oral cavity cancer and oropharyngeal cancer. The risk of these cancers is about 5 to 10 times higher for current smokers than for people who have never smoked. The use of all types of tobacco, including cigarettes, pipes, cigars, and smokeless tobacco (snuff and chewing tobacco) can cause cancer of the oral cavity and oropharynx. For cigarette smokers, the risk of oral cavity cancer and oropharyngeal cancer increases with the number of cigarettes smoked per day. Alcohol use Using alcohol is also an important risk factor for oral cavity cancer and oropharyngeal cancer. The risk of oral cavity cancer and oropharyngeal cancer increases with the number of alcoholic drinks consumed per day. The risk of oral cavity cancer and oropharyngeal cancer is about twice as high in people who have 3 to 4 alcoholic drinks per day and 5 times higher in people who have 5 or more alcoholic drinks per day compared with those who don't drink alcohol. Tobacco and alcohol use The risk of oral cavity cancer and oropharyngeal cancer is 2 to 3 times higher in people who use both tobacco and alcohol than it is in people who use only tobacco or only alcohol. The risk of oral cavity cancer and oropharyngeal cancer is about 35 times higher in people who smoke 2 or more packs of cigarettes per day and have more than 4 alcoholic drinks per day than it is in people who have never smoked cigarettes or consumed alcohol. Betel quid or gutka chewing Chewing betel quid or gutka (betel quid mixed with tobacco) has been shown to increase the risk of oral cavity cancer and oropharyngeal cancer. Betel quid contains areca nut, which is a cancer-causing substance. The risk of oral cavity cancer and oropharyngeal cancer increases with how long and how often betel quid or gutka are chewed. The risk for oral cavity cancer and oropharyngeal cancer is higher when chewing gutka than when chewing betel quid alone. Betel quid and gutka chewing is common in many countries in South Asia and Southeast Asia, including China and India. Personal history of head and neck cancer A personal history of head and neck cancer increases the risk of oral cavity cancer and oropharyngeal cancer.
The following is a risk factor for oropharyngeal cancer:
HPV infection Being infected with certain types of HPV, especially HPV type 16, increases the risk of oropharyngeal cancer. HPV infection is spread mainly through sexual contact. The risk of oropharyngeal cancer is about 15 times higher in people who have oral HPV 16 infection compared with people who do not have oral HPV 16 infection.
It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer.
It has not been proven that stopping alcohol use will decrease the risk of oral cavity cancer or oropharyngeal cancer. Getting an HPV vaccination greatly lessens the risk of oral HPV infection. It is not yet known whether getting an HPV vaccination at any age will decrease the risk of oropharyngeal cancer from HPV infection. |
symptoms | What are the symptoms of Microcephaly brain defect spasticity hypernatremia ? | What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Hypertonia 90% Microcephaly 90% Holoprosencephaly 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
considerations | What to do for What I need to know about Kidney Failure and How Its Treated ? | Eating healthy foods can help you keep up your energy and strength. All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices. You should talk with your centers dietitian to make a meal plan.
The best diet for you will depend on which kidney failure treatment you choose after talking with your doctor.
- Hemodialysis - Limit how much liquid and water you drink. Fluid can build up in your body between hemodialysis sessions. Also, many foods contain water. The extra fluid in your body can cause swelling and high blood pressure. Extra fluid in your body makes your heart work harder.
- - Limit sodium, or salt. Watch out for sodium in frozen foods and prepared meals. You can also find sodium in canned foods, hot dogs, and fast food. Sodium makes you thirsty, which makes you drink more water and other liquids than you should. - Read more in the National Kidney Disease Education Program (NKDEP) fact sheet Sodium. - Limit potassium. Potassium is found in many fruits and vegetables such as potatoes, tomatoes, oranges, and bananas. Too much potassium can make your heart beat unevenly. Hemodialysis does not remove potassium from your body well. - Read more in the NKDEP fact sheet Potassium. - Eat protein-rich foods such as meat, fish, and eggs. Hemodialysis removes protein from your body. - Read more in the NKDEP fact sheet Protein. - Limit phosphorus. Phosphorus helps your bones, blood vessels, and muscles work. - However, too much phosphorus can make your bones weak. Limiting phosphorus can be hard. Foods that contain phosphorus, such as meat and milk, also contain protein that you need. You should be careful to eat enough protein, yet not so much that you get too much phosphorus. You can avoid other foods that contain phosphorus, such as cola, tea, beans, and nuts. - Read more in the NKDEP fact sheet Phosphorus. - Find healthy ways to add calories to your diet. Calories are found in all foods and give your body energy. Many people on hemodialysis do not have a good appetite and do not get enough calories. Vegetable oils are good sources of calories. Vegetable oils include olive oil, canola oil, and safflower oil. Use them on breads, rice, and noodles. Hard candy, sugar, honey, jam, and jelly provide calories and energy. However, if you have diabetes, speak with your doctor or dietitian before eating extra sweets. - More information about nutrition for people who are on hemodialysis is provided in the NIDDK health topic, Eat Right to Feel Right on Hemodialysis. - Peritoneal dialysis - Drink as much water and other liquids as you need. If you are holding too much fluid or too little fluid, your doctor needs to know. - Limit sodium to control your thirst and help prevent heart problems. You can use spices other than salt to flavor your food.
- - You may need to eat more potassium-rich foods. Peritoneal dialysis removes potassium from your body. Talk with your doctor or dietitian about the right amount of potassium for you. - Eat protein-rich foods. Peritoneal dialysis removes even more protein from your body than hemodialysis. - Limit phosphorus to keep your bones strong. - You may need to limit your calorie intake. The salty water also contains some sugar. Your body absorbs the sugar, which can cause you to gain weight. - Kidney transplant - Limit sodium to help prevent heart problems. - You should be able to eat normal amounts of phosphorus and potassium. You may need to adjust the amounts if blood tests show a problem.
- - Eat protein-rich foods to repair muscle breakdown and protect against infection. - You may need to limit your calories. The medicines you take can make you gain weight. - Conservative management - Limit protein to prevent the buildup of wastes in your blood.
You may have other needs and limits, depending on how well your treatments work. |
information | What is (are) Subcortical band heterotopia ? | Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control. |
genetic changes | What are the genetic changes related to frontonasal dysplasia ? | Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX4, and ALX1 genes are transcription factors, which means they attach (bind) to DNA and control the activity of certain genes. Specifically, the proteins control the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development. The ALX3 and ALX4 proteins are primarily involved in the development of the nose and surrounding tissues, while the ALX1 protein is involved in development of the eyes, nose, and mouth. ALX3, ALX4, or ALX1 gene mutations reduce or eliminate function of the respective protein. As a result, the regulation of cell organization during development of the head and face is disrupted, particularly affecting the middle of the face. Abnormal development of the nose, philtrum, and upper lip leads to the facial clefts that characterize this disorder. This abnormal development also interferes with the proper formation of the skull and other facial structures, leading to anterior cranium bifidum occultum, hypertelorism, and other features of frontonasal dysplasia. |
genetic changes | What are the genetic changes related to Turner syndrome ? | Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth. About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Women with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome. Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome. |
considerations | What to do for Multiple Endocrine Neoplasia Type 1 ? | - Multiple endocrine neoplasia type 1 (MEN1) is an inherited disorder that causes hormone-secreting tumors in the duodenum and the endocrine glands-most often the parathyroid, pancreas, and pituitary. - Overactive parathyroid glands can lead to tiredness, weakness, muscle or bone pain, constipation, indigestion, kidney stones, or thinning of bones. - Pancreatic and duodenal endocrine tumors called gastrinomas can cause dangerous stomach or intestinal ulcers. - Pituitary tumors called prolactinomas can cause excessive production of breast milk or interfere with fertility in women or with sex drive and fertility in men. - Although many tumors associated with MEN1 are benign, about half of people with MEN1 will eventually develop a cancerous tumor. - MEN1 carriers can be detected through gene testing or other laboratory tests. - MEN1 cannot be cured, but regular testing can detect the problems caused by MEN1 tumors many years before serious complications develop. Careful monitoring enables doctors to adjust an individual's treatment as needed. |
symptoms | What are the symptoms of Von Willebrand Disease ? | The signs and symptoms of von Willebrand disease (VWD) depend on which type of the disorder you have. They also depend on how serious the disorder is. Many people have such mild symptoms that they don't know they have VWD.
If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms:
Frequent, large bruises from minor bumps or injuries
Frequent or hard-to-stop nosebleeds
Prolonged bleeding from the gums after a dental procedure
Heavy or prolonged menstrual bleeding in women
Blood in your stools from bleeding in your intestines or stomach
Blood in your urine from bleeding in your kidneys or bladder
Heavy bleeding after a cut or other accident
Heavy bleeding after surgery
People who have type 3 VWD may have all of the symptoms listed above and severe bleeding episodes for no reason. These bleeding episodes can be fatal if not treated right away. People who have type 3 VWD also may have bleeding into soft tissues or joints, causing severe pain and swelling.
Heavy menstrual bleeding often is the main symptom of VWD in women. Doctors call this menorrhagia (men-o-RA-je-ah). They define it as:
Bleeding with clots larger than about 1-inch in diameter
Anemia (low red blood cell count) or low blood iron
The need to change pads or tampons more than every hour
However, just because a woman has heavy menstrual bleeding doesn't mean she has VWD. |
inheritance | Is Isobutyryl-CoA dehydrogenase deficiency inherited ? | How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited? IBD deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for PDGFRB-associated chronic eosinophilic leukemia ? | These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia--Eosinophilic: Treatment - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia - MedlinePlus Encyclopedia: Eosinophil Count--Absolute - Seattle Cancer Care Alliance: Hypereosinophilia 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 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
inheritance | Is autosomal dominant hyper-IgE syndrome inherited ? | AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases caused by STAT3 gene mutations, an affected person inherits the genetic change from an affected parent. Other cases result from new mutations in this gene. These cases occur in people with no history of the disorder in their family. |
frequency | How many people are affected by hystrix-like ichthyosis with deafness ? | HID is a rare disorder. Its prevalence is unknown. |
treatment | What are the treatments for congenital dyserythropoietic anemia ? | These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II - Genetic Testing Registry: Congenital dyserythropoietic anemia, type III - MedlinePlus Encyclopedia: Ham Test - MedlinePlus Encyclopedia: Hepatomegaly - MedlinePlus Encyclopedia: Jaundice - MedlinePlus Encyclopedia: Splenomegaly 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 Rotor syndrome ? | These resources address the diagnosis or management of Rotor syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Gene Review: Gene Review: Rotor Syndrome - Genetic Testing Registry: Rotor 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 |
causes | What causes Sickle Cell Disease ? | Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD).
The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemoglobin, changing the way that hemoglobin works. (See Overview.)
How Is Sickle Cell Disease Inherited?
When the hemoglobin S gene is inherited from only one parent and a normal hemoglobin gene is inherited from the other, a person will have sickle cell trait. People with sickle cell trait are generally healthy.
Only rarely do people with sickle cell trait have complications similar to those seen in people with SCD. But people with sickle cell trait are carriers of a defective hemoglobin S gene. So, they can pass it on when they have a child.
If the childs other parent also has sickle cell trait or another abnormal hemoglobin gene (like thalassemia, hemoglobin C, hemoglobin D, hemoglobin E), that child has a chance of having SCD.
Example of an Inheritance Pattern
In the image above, each parent has one hemoglobin A gene and one hemoglobin S gene, and each of their children has:
A 25 percent chance of inheriting two normal genes: In this case the child does not have sickle cell trait or disease. (Case 1)
A 50 percent chance of inheriting one hemoglobin A gene and one hemoglobin S gene: This child has sickle cell trait. (Cases 2 and 3)
A 25 percent chance of inheriting two hemoglobin S genes: This child has sickle cell disease. (Case 4)
It is important to keep in mind that each time this couple has a child, the chances of that child having sickle cell disease remain the same. In other words, if the first-born child has sickle cell disease, there is still a 25 percent chance that the second child will also have the disease. Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin.
If a person wants to know if he or she carries a sickle hemoglobin gene, a doctor can order a blood test to find out. |
treatment | What are the treatments for Birdshot chorioretinopathy ? | What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because birdshot chorioretinopathy is suspected to be an autoimmune disease, therapies aim to regulate the body's immune response. Therapies may include corticosteroids such as prednisone (by injection or medication taken by mouth) or medications that suppress the immune system such as cyclosporine. |
frequency | How many people are affected by retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | RAMSVPS is a rare disorder. Only a small number of affected individuals and families, all from Saudi Arabia, have been described in the medical literature. |
information | What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ? | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited. Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or "lazy eye" (amblyopia) affecting one or both eyes. People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum). There are two types of BPES, which are distinguished by their signs and symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). |
treatment | What are the treatments for Urinary Incontinence in Children ? | Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications.
Growth and Development
As children mature
- bladder capacity increases - natural body alarms become activated - an overactive bladder settles down - production of ADH becomes normal - response to the bodys signal that it is time to void improves
Bladder Training and Related Strategies
Bladder training consists of exercises to strengthen the bladder muscles to better control urination. Gradually lengthening the time between trips to the bathroom can also help by stretching the bladder so it can hold more urine. Additional techniques that may help control daytime UI include
- urinating on a scheduletimed voidingsuch as every 2 hours - avoiding food or drinks with caffeine - following suggestions for healthy urination, such as relaxing muscles and taking enough time to allow the bladder to empty completely
Waking children up to urinate can help decrease nighttime UI. Ensuring children drink enough fluids throughout the day so they do not drink a lot of fluids close to bedtime may also help. A health care provider can give guidance about how much a child needs to drink each day, as the amount depends on a childs age, physical activity, and other factors.
Moisture Alarms
At night, moisture alarms can wake children when they begin to urinate. These devices use a water-sensitive pad connected to an alarm that sounds when moisture is first detected. A small pad can clip to the pajamas, or a larger pad can be placed on the bed. For the alarm to be effective, children must awaken as soon as the alarm goes off, stop the urine stream, and go to the bathroom. Children using moisture alarms may need to have someone sleep in the same room to help wake them up.
Medications
Nighttime UI may be treated by increasing ADH levels. The hormone can be boosted by a synthetic version known as desmopressin (DDAVP), which is available in pill form, nasal spray, and nose drops. DDAVP is approved for use in children. Another medication, called imipramine (Tofranil), is also used to treat nighttime UI, though the way this medication prevents bedwetting is not known. Although both of these medications may help children achieve short-term success, relapse is common once the medication is withdrawn.
UI resulting from an overactive bladder may be treated with oxybutynin (Ditropan), a medication that helps calm the bladder muscle and control muscle spasms. |
frequency | How many people are affected by Wiskott-Aldrich syndrome ? | The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 cases per million males worldwide; this condition is rarer in females. |
information | What is (are) Merkel cell carcinoma ? | Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread. |
information | What is (are) Unverricht-Lundborg disease ? | Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern. |
treatment | What are the treatments for Stevens-Johnson syndrome ? | How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.[2144] |
information | What is (are) Sarcoidosis ? | Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin. Many people have no symptoms. If you have symptoms, they may include - Cough - Shortness of breath - Weight loss - Night sweats - Fatigue Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment. NIH: National Heart, Lung, and Blood Institute |
prevention | How to prevent Stroke ? | Taking action to control your risk factors can help prevent or delay a stroke. If youve already had a stroke, these actions can help prevent another one.
Be physically active. Physical activity can improve your fitness level and health. Talk with your doctor about what types and amounts of activity are safe for you.
Dont smoke, or if you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk of stroke. Talk with your doctor about programs and products that can help you quit. Also, secondhand smoke can damage the bloodvessels.
Maintain a healthy weight. If youre overweight or obese, work with your doctor to create a reasonable weight loss plan. Controlling your weight helps you control risk factors for stroke.
Make heart-healthy eating choices. Heart-healthy eating can help lower your risk or prevent a stroke.
Manage stress. Use techniques to lower your stress levels.
If you or someone in your family has had a stroke, be sure to tell your doctor. By knowing your family history of stroke, you may be able to lower your risk factors and prevent or delay a stroke. If youve had a transient ischemic attack (TIA), dont ignore it. TIAs are warnings, and its important for your doctor to find the cause of the TIA so you can take steps to prevent a stroke. |
information | What is (are) Salivary gland cancer, adult ? | Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands. Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (currently used by physicians) and some are being tested in clinical trials (by researchers). It is suggested that patients with salivary gland cancer have their treatment planned and managed by a team of doctors who are experts in treating head and neck cancer. Although treatment depends on the stage of the cancer, typically the following three treatments are used: (1) surgery, (2) radiation therapy, and (3) chemotherapy. [1] [2] |
inheritance | Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? | How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene. |
information | What is (are) Anal Disorders ? | The anus is the opening of the rectum through which stool passes out of your body. Problems with the anus are common. They include hemorrhoids, abscesses, fissures (cracks), and cancer. You may be embarrassed to talk about your anal troubles. But it is important to let your doctor know, especially if you have pain or bleeding. The more details you can give about your problem, the better your doctor will be able to help you. Treatments vary depending on the particular problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
information | What is (are) glutaric acidemia type I ? | Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. The severity of glutaric acidemia type I varies widely; some individuals are only mildly affected, while others have severe problems. In most cases, signs and symptoms first occur in infancy or early childhood, but in a small number of affected individuals, the disorder first becomes apparent in adolescence or adulthood. Some babies with glutaric acidemia type I are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity, or decreased muscle tone. Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery. |
information | What is (are) Kleefstra syndrome ? | Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity. People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia). |
information | What is (are) ethylmalonic encephalopathy ? | Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy. The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. A few children with a milder, chronic form of this disorder have been reported. |
symptoms | What are the symptoms of Dextrocardia with unusual facies and microphthalmia ? | What are the signs and symptoms of Dextrocardia with unusual facies and microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dextrocardia with unusual facies and microphthalmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Anophthalmia - Autosomal recessive inheritance - Choreoathetosis - Cleft palate - Dextrocardia - Intellectual disability - Macrotia - Microphthalmia - Prominent nose - Sloping forehead - Supernumerary ribs - Vertebral segmentation defect - 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) Primary orthostatic tremor ? | Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors may become more severe, affecting quality of life and causing increasing disability. In some cases, primary orthostatic tremor may occur with other movement disorders. Individuals with primary orthostatic tremor may be treated with clonazepam and primidone. The cause of this condition is unknown. |
information | What is (are) Chronic Pain ? | Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause. Problems that cause chronic pain include - Headache - Low back strain - Cancer - Arthritis - Pain from nerve damage Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification. NIH: National Institute of Neurological Disorders and Stroke |
information | What is (are) Prurigo nodularis ? | Prurigo nodularis is a skin condition characterized by hard crusty lumps that itch intensely. The exact cause of the condition is unknown. However, it can occur in isolation or as a result of repeated trauma to chronic pruritus (itching). Treatment for the condition can be challenging. |
causes | What causes Ulcerative Colitis ? | The exact cause of ulcerative colitis is unknown. Researchers believe the following factors may play a role in causing ulcerative colitis:
- overactive intestinal immune system - genes - environment
Overactive intestinal immune system. Scientists believe one cause of ulcerative colitis may be an abnormal immune reaction in the intestine. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Researchers believe bacteria or viruses can mistakenly trigger the immune system to attack the inner lining of the large intestine. This immune system response causes the inflammation, leading to symptoms.
Genes. Ulcerative colitis sometimes runs in families. Research studies have shown that certain abnormal genes may appear in people with ulcerative colitis. However, researchers have not been able to show a clear link between the abnormal genes and ulcerative colitis.
Environment. Some studies suggest that certain things in the environment may increase the chance of a person getting ulcerative colitis, although the overall chance is low. Nonsteroidal anti-inflammatory drugs,1 antibiotics,1 and oral contraceptives2 may slightly increase the chance of developing ulcerative colitis. A high-fat diet may also slightly increase the chance of getting ulcerative colitis.3
Some people believe eating certain foods, stress, or emotional distress can cause ulcerative colitis. Emotional distress does not seem to cause ulcerative colitis. A few studies suggest that stress may increase a person's chance of having a flare-up of ulcerative colitis. Also, some people may find that certain foods can trigger or worsen symptoms. |
inheritance | Is familial pityriasis rubra pilaris inherited ? | Familial pityriasis rubra pilaris usually has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals usually inherit the condition from one affected parent. However, the condition is said to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops the condition's characteristic skin abnormalities. The other types of pityriasis rubra pilaris are sporadic, which means they occur in people with no history of the disorder in their family. |
treatment | What are the treatments for Progeria ? | How might progeria be treated? Management for progeria generally focuses on the signs and symptoms of the condition and may include the following: Exercise, diet modification, and medication when the lipid profile becomes abnormal Frequent small meals to maximize caloric intake Oral hydration Use of shoe pads for foot discomfort due to lack of body fat Use of sunscreen on all exposed areas of skin Nitroglycerin for angina Routine anticongestive therapy if congestive heart failure is present Statins for their putative effect on farnesylation inhibition Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur Routine physical and occupational therapy to help maintain range of motion in large and small joints Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children. A free, full-text version of this study is available on PubMed and can be viewed by clicking here. |
inheritance | Is Tourette syndrome inherited ? | The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition. Tourette syndrome was previously thought to have an autosomal dominant pattern of inheritance, which suggests that one mutated copy of a gene in each cell would be sufficient to cause the condition. Several decades of research have shown that this is not the case. Almost all cases of Tourette syndrome probably result from a variety of genetic and environmental factors, not changes in a single gene. |
inheritance | Is keratitis-ichthyosis-deafness syndrome inherited ? | KID syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. A few families have had a condition resembling KID syndrome with an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Affected individuals in these families have liver disease, which is not a feature of the autosomal dominant form. The autosomal recessive condition is sometimes called Desmons syndrome. It is unknown whether it is also caused by GJB2 gene mutations. |
symptoms | What are the symptoms of Pheochromocytoma, childhood ? | What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - Tachycardia - 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 Ovarian Low Malignant Potential Tumors ? | Key Points
- There are different types of treatment for patients with ovarian low malignant potential tumor. - Two types of standard treatment are used: - Surgery - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with ovarian low malignant potential tumor.
Different types of treatment are available for patients with ovarian low malignant potential tumor. 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, tumors, and related conditions. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
Two types of standard treatment are used:
Surgery The type of surgery (removing the tumor in an operation) depends on the size and spread of the tumor and the womans plans for having children. Surgery may include the following: - Unilateral salpingo-oophorectomy: Surgery to remove one ovary and one fallopian tube. - Bilateral salpingo-oophorectomy: Surgery to remove both ovaries and both fallopian tubes. - Total hysterectomy and bilateral salpingo-oophorectomy: Surgery to remove the uterus, cervix, and both ovaries and fallopian tubes. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy. - Partial oophorectomy: Surgery to remove part of one ovary or part of both ovaries. - Omentectomy: Surgery to remove the omentum (a piece of the tissue lining the abdominal wall). Even if the doctor removes all disease that can be seen at the time of the operation, the patient may be given chemotherapy after surgery to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the tumor will come back, is called adjuvant 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). The way the chemotherapy is given depends on the type and stage of the cancer being treated.
New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI Web site.
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 medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for disease 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 diseases 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 treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose disease has not gotten better. There are also clinical trials that test new ways to stop a disease from recurring (coming back) or reduce the side effects of 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 clinical trials database.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the disease may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. This is sometimes called re-staging. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the disease has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options for Ovarian Low Malignant Potential Tumors
Early Stage Ovarian Low Malignant Potential Tumors (Stage I and II)
Surgery is the standard treatment for early stage ovarian low malignant potential tumor. The type of surgery usually depends on whether a woman plans to have children. For women who plan to have children, surgery is either: - unilateral salpingo-oophorectomy; or - partial oophorectomy. To prevent recurrence of disease, most doctors recommend surgery to remove the remaining ovarian tissue when a woman no longer plans to have children. For women who do not plan to have children, treatment may be hysterectomy and bilateral salpingo-oophorectomy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I borderline ovarian surface epithelial-stromal tumor and stage II borderline ovarian surface epithelial-stromal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Late Stage Ovarian Low Malignant Potential Tumors (Stage III and IV)
Treatment for late stage ovarian low malignant potential tumor may be hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. A lymph node dissection may also be done. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III borderline ovarian surface epithelial-stromal tumor and stage IV borderline ovarian surface epithelial-stromal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Recurrent Ovarian Low Malignant Potential Tumors
Treatment for recurrent ovarian low malignant potential tumor may include the following: - Surgery. - Surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent borderline ovarian surface epithelial-stromal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. |
symptoms | What are the symptoms of Chronic Myelomonocytic Leukemia ? | Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by CMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. - Infection. - Feeling very tired. - Weight loss for no known reason. - Easy bruising or bleeding. - Pain or a feeling of fullness below the ribs. |
exams and tests | How to diagnose Chondrocalcinosis 2 ? | How is chondrocalcinosis 2 diagnosed? A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected joints is removed and examined to determine if calcium pyrophosphate dihydrate crystals are present. In most cases, x-rays can be used to identify calcium deposits in the cartilage of joints. |
treatment | What are the treatments for cyclic vomiting syndrome ? | These resources address the diagnosis or management of cyclic vomiting syndrome: - Children's Hospital of Wisconsin - Genetic Testing Registry: Cyclical vomiting 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 |
inheritance | Is Hypophosphatasia inherited ? | How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP. |
information | What is (are) Fungal Infections ? | If you have ever had athlete's foot or a yeast infection, you can blame a fungus. A fungus is a primitive organism. Mushrooms, mold and mildew are examples. Fungi live in air, in soil, on plants and in water. Some live in the human body. Only about half of all types of fungi are harmful. Some fungi reproduce through tiny spores in the air. You can inhale the spores or they can land on you. As a result, fungal infections often start in the lungs or on the skin. You are more likely to get a fungal infection if you have a weakened immune system or take antibiotics. Fungi can be difficult to kill. For skin and nail infections, you can apply medicine directly to the infected area. Oral antifungal medicines are also available for serious infections. NIH: National Institute of Allergy and Infectious Diseases |
treatment | What are the treatments for VIPoma ? | How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency ablation, or hepatic artery embolization. |
symptoms | What are the symptoms of Treacher Collins syndrome ? | What are the signs and symptoms of Treacher Collins syndrome? The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some people have additional eye abnormalities that can lead to vision loss. The condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of affected people. People with Treacher Collins syndrome usually have normal intelligence. You can read additional information about the features of Treacher Collins syndrome through MedlinePlus and GeneReviews. The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Dental malocclusion 90% Hypoplasia of the zygomatic bone 90% Malar flattening 90% Skeletal dysplasia 90% Small face 90% Abnormality of the pinna 77% Lower eyelid coloboma 69% Sparse lower eyelashes 53% Abnormality of the eyelashes 50% Atresia of the external auditory canal 50% Cleft eyelid 50% Conductive hearing impairment 50% Frontal bossing 50% Low anterior hairline 50% Reduced number of teeth 50% Strabismus 50% Visual impairment 50% Wide nasal bridge 50% Visual loss 37% Abnormality of the auditory canal 36% Cleft soft palate 32% Projection of scalp hair onto lateral cheek 26% Abnormality of cardiovascular system morphology 7.5% Abnormality of dental enamel 7.5% Abnormality of dental morphology 7.5% Abnormality of parotid gland 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the thyroid gland 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the thymus 7.5% Bilateral microphthalmos 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Encephalocele 7.5% Facial cleft 7.5% Glossoptosis 7.5% Hypertelorism 7.5% Hypoplasia of penis 7.5% Hypoplasia of the pharynx 7.5% Iris coloboma 7.5% Lacrimal duct stenosis 7.5% Multiple enchondromatosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Ptosis 7.5% Respiratory insufficiency 7.5% Scrotal hypoplasia 7.5% Tracheoesophageal fistula 7.5% Trismus 7.5% Upper eyelid coloboma 7.5% Urogenital fistula 7.5% Wide mouth 7.5% Intellectual disability 5% 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 Dry Mouth ? | Treatment for Dry Mouth Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. If your salivary glands are not working right but can still produce some saliva, your dentist or physician might give you a medicine that helps the glands work better. Your dentist or physician might also suggest that you use artificial saliva to keep your mouth wet. Do's and Don'ts Do's - Do drink water or sugarless drinks often. That will make chewing and swallowing easier when eating. - Do chew sugarless gum or suck on sugarless hard candy to stimulate saliva flow. - Do use a humidifier at night to promote moisture in the air while you sleep. Do drink water or sugarless drinks often. That will make chewing and swallowing easier when eating. Do chew sugarless gum or suck on sugarless hard candy to stimulate saliva flow. Do use a humidifier at night to promote moisture in the air while you sleep. Donts - Don't consume drinks with caffeine such as coffee, tea, and some sodas. Caffeine can dry out the mouth. - Don't use tobacco or alcohol. They dry out the mouth. Don't consume drinks with caffeine such as coffee, tea, and some sodas. Caffeine can dry out the mouth. Don't use tobacco or alcohol. They dry out the mouth. Gene Therapy Research for Salivary Gland Dysfunction Scientists at NIHs National Institute of Dental and Craniofacial Research (NIDCR) are exploring the potential use of gene therapy to treat salivary gland dysfunction. The idea is to transfer additional or replacement genes into the salivary glands of people with Sjgren's syndrome and cancer patients whose salivary glands were damaged during radiation treatment. The hope is that these genes will increase the production of saliva and eliminate the chronic parched sensation that bothers people with dry mouth conditions. NIDCR recently completed a clinical study, a research study in humans, on gene therapy for radiation-damaged salivary glands. The study showed that gene therapy can be safely performed in salivary glands and that it has the potential to help head and neck cancer survivors with dry mouth. Read NIDCRs news release to learn more about the studys findings. Based on the promising results of this trial, similar clinical trials are planned in the near future. Research on Sjgrens Syndrome and Other Diseases Affecting Salivary Glands NIDCR is also conducting clinical trials to study new approaches for improving salivary flow in patients with Sjogrens syndrome. Such studies include testing the effectiveness of a monoclonal antibody as well as a corticosteroid to see whether either of these treatments helps improve salivary flow. Other studies are focused on learning how diseases such as diabetes, auto inflammatory diseases, and granulomatous diseases cause salivary gland dysfunction. Such studies could one day lead to better ways of preventing and treating salivary gland conditions. To stay abreast of any new studies on gene therapy and salivary gland function, visit ClinicalTrials.gov. ClinicalTrials.gov lists all federally and many privately funded clinical trials in the U.S. and around the world; the web site is updated frequently. |
symptoms | What are the symptoms of Rectal Cancer ? | Signs of rectal cancer include a change in bowel habits or blood in the stool. These and other signs and symptoms may be caused by rectal cancer or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool. - A change in bowel habits. - Diarrhea. - Constipation. - Feeling that the bowel does not empty completely. - Stools that are narrower or have a different shape than usual. - General abdominal discomfort (frequent gas pains, bloating, fullness, or cramps). - Change in appetite. - Weight loss for no known reason. - Feeling very tired. |
information | What is (are) Diabetic Neuropathy ? | Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems with sensation in the feet. It can develop slowly after many years of diabetes or may occur early in the disease. The symptoms are numbness, pain, or tingling in the feet or lower legs. The pain can be intense and require treatment to relieve the discomfort. The loss of sensation in the feet may also increase the possibility that foot injuries will go unnoticed and develop into ulcers or lesions that become infected. In some cases, diabetic neuropathy can be associated with difficulty walking and some weakness in the foot muscles. There are other types of diabetic-related neuropathies that affect specific parts of the body. For example, diabetic amyotrophy causes pain, weakness and wasting of the thigh muscles, or cranial nerve infarcts that may result in double vision, a drooping eyelid, or dizziness. Diabetes can also affect the autonomic nerves that control blood pressure, the digestive tract, bladder function, and sexual organs. Problems with the autonomic nerves may cause lightheadedness, indigestion, diarrhea or constipation, difficulty with bladder control, and impotence. |
exams and tests | How to diagnose Osteogenesis imperfecta type VI ? | Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative. GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members. |
genetic changes | What are the genetic changes related to recombinant 8 syndrome ? | Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8. |
information | What is (are) Bloom syndrome ? | Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes. People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer. Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual. |
information | What is (are) Lipoic acid synthetase deficiency ? | Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Patent Ductus Arteriosus ? | A heart murmur may be the only sign that a baby has patent ductus arteriosus (PDA). A heart murmur is an extra or unusual sound heard during the heartbeat. Heart murmurs also have other causes besides PDA, and most murmurs are harmless.
Some infants may develop signs or symptoms of volume overload on the heart and excess blood flow in the lungs. Signs and symptoms may include:
Fast breathing, working hard to breathe, or shortness of breath. Premature infants may need increased oxygen or help breathing from a ventilator.
Poor feeding and poor weight gain.
Tiring easily.
Sweating with exertion, such as while feeding. |
symptoms | What are the symptoms of Mastocytic enterocolitis ? | What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although other signs and symptoms appear to have been reported by individuals on various online forums and support Web sites, we were unable to locate additional information about symptoms of the condition in the available medical literature. At this time, literature about mastocytic enterocolitis is scarce. |
symptoms | What are the symptoms of Glutamate formiminotransferase deficiency ? | What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. 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) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - 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) Heart Valve Disease ? | Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral,and aortic valves.
These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body.
Healthy Heart Cross-Section
Birth defects, age-related changes, infections, or other conditions can cause one or more of your heart valves to not open fully or to let blood leak back into the heart chambers. This can make your heart work harder and affect its ability to pump blood.
Overview
How the Heart Valves Work
At the start of each heartbeat, blood returning from the body and lungs fills the atria (the heart's two upper chambers). The mitral and tricuspid valves are located at the bottom of these chambers. As the blood builds up in the atria, these valves open to allow blood to flow into the ventricles (the heart's two lower chambers).
After a brief delay, as the ventricles begin to contract, the mitral and tricuspid valves shut tightly. This prevents blood from flowing back into the atria.
As the ventricles contract, they pump blood through the pulmonary and aortic valves. The pulmonary valve opens to allow blood to flow from the right ventricle into the pulmonary artery. This artery carries blood to the lungs to get oxygen.
At the same time, the aortic valve opens to allow blood to flow from the left ventricle into the aorta. The aorta carries oxygen-rich blood to the body. As the ventricles relax, the pulmonary and aortic valves shut tightly. This prevents blood from flowing back into the ventricles.
For more information about how the heart pumps blood and detailed animations, go to the Health Topics How the Heart Works article.
Heart Valve Problems
Heart valves can have three basic kinds of problems: regurgitation, stenosis, and atresia.
Regurgitation, or backflow, occurs if a valve doesn't close tightly. Blood leaks back into the chambers rather than flowing forward through the heart or into an artery.
In the United States, backflow most often is due to prolapse. "Prolapse" is when the flaps of the valve flop or bulge back into an upper heart chamber during a heartbeat. Prolapse mainly affects the mitral valve.
Stenosis occurs if the flaps of a valve thicken, stiffen, or fuse together. This prevents the heart valve from fully opening. As a result, not enough blood flows through the valve. Some valves can have both stenosis and backflow problems.
Atresia occurs if a heart valve lacks an opening for blood to pass through.
Some people are born with heart valve disease, while others acquire it later in life. Heart valve disease that develops before birth is called congenitalheart valve disease. Congenital heart valve disease can occur alone or with other congenital heart defects.
Congenital heart valve disease often involves pulmonary or aortic valves that don't form properly. These valves may not have enough tissue flaps, they may be the wrong size or shape, or they may lack an opening through which blood can flow properly.
Acquired heart valve disease usually involves aortic or mitral valves. Although the valves are normal at first, problems develop over time.
Both congenital and acquired heart valve disease can cause stenosis or backflow.
Outlook
Many people have heart valve defects or disease but don't have symptoms. For some people, the condition mostly stays the same throughout their lives and doesn't cause any problems.
For other people, heart valve disease slowly worsens until symptoms develop. If not treated, advanced heart valve disease can cause heart failure, stroke, blood clots, or death due to sudden cardiac arrest (SCA).
Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines can relieve many of its symptoms and complications.
These treatments also can lower your risk of developing a life-threatening condition, such as stroke or SCA. Eventually, you may need to have your faulty heart valve repaired or replaced.
Some types of congenital heart valve disease are so severe that the valve is repaired or replaced during infancy, childhood, or even before birth. Other types may not cause problems until middle-age or older, if at all. |
symptoms | What are the symptoms of Glutaric acidemia type II ? | What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet. Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the genital system - Abnormality of the pinna - Autosomal recessive inheritance - Congenital cataract - Defective dehydrogenation of isovaleryl CoA and butyryl CoA - Depressed nasal bridge - Electron transfer flavoprotein-ubiquinone oxidoreductase defect - Ethylmalonic aciduria - Generalized aminoaciduria - Gliosis - Glutaric acidemia - Glutaric aciduria - Glycosuria - Hepatic periportal necrosis - Hepatic steatosis - Hepatomegaly - High forehead - Hypoglycemia - Hypoglycemic coma - Jaundice - Macrocephaly - Muscle weakness - Muscular hypotonia - Nausea - Neonatal death - Pachygyria - Polycystic kidney dysplasia - Proximal tubulopathy - Pulmonary hypoplasia - Renal cortical cysts - Respiratory distress - Telecanthus - Vomiting - Wide anterior fontanel - 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 argininosuccinic aciduria ? | Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. |
information | What is (are) Farber's disease ? | Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner. |
genetic changes | What are the genetic changes related to Lowe syndrome ? | Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. This enzyme is also involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Some mutations in the OCRL gene prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. Researchers are working to determine how OCRL mutations cause the characteristic features of Lowe syndrome. Because the OCRL enzyme is present throughout the body, it is unclear why the medical problems associated with this condition are mostly limited to the brain, kidneys, and eyes. It is possible that other enzymes may be able to compensate for the defective OCRL enzyme in unaffected tissues. |
treatment | What are the treatments for Klumpke paralysis ? | How might Klumpke paralysis be treated? The affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery. Most infants recover from neuropraxia within 4 months. Parents or guardians of infants that show no evidence of spontaneous recovery at 4 months, may be counseled regarding additional treatment options. These treatment options may include: Surgery on the nerves (e.g., nerve grafts and neuroma excision) Tendon transfers to help the muscles that are affected by nerve damage work better |
research | what research (or clinical trials) is being done for Troyer Syndrome ? | The NINDS supports research on genetic disorders such as the hereditary spastic paraplegias. A gene for Troyer syndrome has been identified and others may be identified in the future. Understanding how these genes cause Troyer syndrome and the hereditary spastic paraplegias in general will lead to ways to prevent, treat, and cure these disorders. |
treatment | What are the treatments for metatropic dysplasia ? | These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia 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 |
causes | What causes Lucey-Driscoll syndrome ? | What causes Lucey-Driscoll syndrome? Lucey-Driscoll syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor which is a substance that limits the ability of bilirubin to bind to an enzyme. When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood (serum) of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver. Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1). |
treatment | What are the treatments for Cohen syndrome ? | How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections) is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness. |
symptoms | What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? | What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus 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) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - Wide nasal bridge - 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) familial pityriasis rubra pilaris ? | Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life. |
information | What is (are) Syringomyelia ? | Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as - Pain and weakness in the back, shoulders, arms or legs - Headaches - Inability to feel hot or cold Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood. Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment. |
treatment | What are the treatments for Pityriasis rubra pilaris ? | How might pityriasis rubra pilaris be treated? Treatment of pityriasis rubra pilaris (PRP) is mainly based on reports of patients' experiences. No controlled trials have been done, so the effectiveness and safety of treatments is unclear. Currently there are no treatments approved by the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for use in PRP. Management of PRP often involves systemic and topical therapies combined. Topical therapies can help with the symptoms and may be enough for people with mild PRP. Topical treatments are usually combined with systemic therapy for PRP that affects a large part of the body. Most people need systemic therapy to control the condition. Oral retinoids (synthetic vitamin A derivatives) are usually preferred as a first-line systemic treatment for PRP. Methotrexate may be an alternative option for people who should not use systemic retinoids, or who don't respond to systemic retinoid therapy. For people who don't respond well to retinoid or methotrexate therapy, options may include biologic TNF-alpha inhibitors, azathioprine, cyclosporine, and/or phototherapy. Topical treatments used for PRP may include topical corticosteroids, keratolytics, tar, calcipotriol, topical tretinoin, and tazarotene. Some of the medications used to treat PRP can harm a developing fetus and are not recommended for use right before or during pregnancy. People seeking information about specific treatment options for themselves or family members should speak with their health care provider. |
treatment | What are the treatments for Pervasive Developmental Disorders ? | There is no known cure for PDD. Medications are used to address specific behavioral problems; therapy for children with PDD should be specialized according to need. Some children with PDD benefit from specialized classrooms in which the class size is small and instruction is given on a one-to-one basis. Others function well in standard special education classes or regular classes with additional support. |
information | What is (are) Chromosome 16q deletion ? | Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 16q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 16q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. |
inheritance | Is spinal muscular atrophy with progressive myoclonic epilepsy inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Urinary Retention ? | A health care provider treats urinary retention with
- bladder drainage - urethral dilation - urethral stents - prostate medications - surgery
The type and length of treatment depend on the type and cause of urinary retention.
Bladder Drainage
Bladder drainage involves catheterization to drain urine. Treatment of acute urinary retention begins with catheterization to relieve the immediate distress of a full bladder and prevent bladder damage. A health care provider performs catheterization during an office visit or in an outpatient center or a hospital. The patient often receives local anesthesia. The health care provider can pass a catheter through the urethra into the bladder. In cases of a blocked urethra, he or she can pass a catheter directly through the lower abdomen, just above the pubic bone, directly into the bladder. In these cases, the health care provider will use anesthesia.
For chronic urinary retention, the patient may require intermittentoccasional, or not continuousor long-term catheterization if other treatments do not work. Patients who need to continue intermittent catheterization will receive instruction regarding how to selfcatheterize to drain urine as necessary.
Urethral Dilation
Urethral dilation treats urethral stricture by inserting increasingly wider tubes into the urethra to widen the stricture. An alternative dilation method involves inflating a small balloon at the end of a catheter inside the urethra. A health care provider performs a urethral dilation during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. In some cases, the patient will receive sedation and regional anesthesia.
Urethral Stents
Another treatment for urethral stricture involves inserting an artificial tube, called a stent, into the urethra to the area of the stricture. Once in place, the stent expands like a spring and pushes back the surrounding tissue, widening the urethra. Stents may be temporary or permanent. A health care provider performs stent placement during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. In some cases, the patient will receive sedation and regional anesthesia.
Prostate Medications
Medications that stop the growth of or shrink the prostate or relieve urinary retention symptoms associated with benign prostatic hyperplasia include
- dutasteride (Avodart) - finasteride (Proscar)
The following medications relax the muscles of the bladder outlet and prostate to help relieve blockage:
- alfuzosin (Uroxatral) - doxazosin (Cardura) - silodosin (Rapaflo) - tadalafil (Cialis) - tamsulosin (Flomax) - terazosin (Hytrin)
Surgery
Prostate surgery. To treat urinary retention caused by benign prostatic hyperplasia, a urologista doctor who specializes in the urinary tractmay surgically destroy or remove enlarged prostate tissue by using the transurethral method. For transurethral surgery, the urologist inserts a catheter or surgical instruments through the urethra to reach the prostate. Removal of the enlarged tissue usually relieves the blockage and urinary retention caused by benign prostatic hyperplasia. A urologist performs some procedures on an outpatient basis. Some men may require a hospital stay. In some cases, the urologist will remove the entire prostate using open surgery. Men will receive general anesthesia and have a longer hospital stay than for other surgical procedures. Men will also have a longer rehabilitation period for open surgery.
More information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia.
Internal urethrotomy. A urologist can repair a urethral stricture by performing an internal urethrotomy. For this procedure, the urologist inserts a special catheter into the urethra until it reaches the stricture. The urologist then uses a knife or laser to make an incision that opens the stricture. The urologist performs an internal urethrotomy in an outpatient center or a hospital. The patient will receive general anesthesia.
Cystocele or rectocele repair. Women may need surgery to lift a fallen bladder or rectum into its normal position. The most common procedure for cystocele and rectocele repair involves a urologist, who also specializes in the female reproductive system, making an incision in the wall of the vagina. Through the incision, the urologist looks for a defect or hole in the tissue that normally separates the vagina from the other pelvic organs. The urologist places stitches in the tissue to close up the defect and then closes the incision in the vaginal wall with more stitches, removing any extra tissue. These stitches tighten the layers of tissue that separate the organs, creating more support for the pelvic organs. A urologist or gynecologista doctor who specializes in the female reproductive systemperforms the surgery to repair a cystocele or rectocele in a hospital. Women will receive anesthesia.
Tumor and cancer surgery. Removal of tumors and cancerous tissues in the bladder or urethra may reduce urethral obstruction and urinary retention. |
treatment | What are the treatments for Wiskott-Aldrich syndrome ? | These resources address the diagnosis or management of Wiskott-Aldrich syndrome: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Wiskott-Aldrich syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Marrow Donor Program - Rare Disease Clinical Research Network: Primary Immune Deficiency Treatment Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
genetic changes | What are the genetic changes related to medullary cystic kidney disease type 1 ? | MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and protects them from foreign invaders and other particles. In addition to its role in mucus, mucin 1 relays signals from outside the cell to the cell's nucleus. Through this cellular signaling, mucin 1 is thought to be involved in the growth, movement, and survival of cells. Research suggests that mucin 1 plays a role in the normal development of the kidneys. MCKD1 is caused by the insertion of a single DNA building block (nucleotide) called cytosine into the MUC1 gene. These mutations have been found in one particular region of the gene. They lead to the production of an altered protein. It is unclear how this change causes kidney disease. |
genetic changes | What are the genetic changes related to familial HDL deficiency ? | Mutations in the ABCA1 gene or the APOA1 gene cause familial HDL deficiency. The proteins produced from these genes work together to remove cholesterol and phospholipids from cells. The ABCA1 gene provides instructions for making a protein that removes cholesterol and phospholipids from cells by moving them across the cell membrane. The movement of these substances across the membrane is enhanced by another protein called apolipoprotein A-I (apoA-I), which is produced by the APOA1 gene. Once outside the cell, the cholesterol and phospholipids combine with apoA-I to form HDL. ApoA-I also triggers a reaction that converts cholesterol to a form that can be fully integrated into HDL and transported through the bloodstream. ABCA1 gene mutations and some APOA1 gene mutations prevent the release of cholesterol and phospholipids from cells. Other mutations in the APOA1 gene reduce the protein's ability to stimulate the conversion of cholesterol. These ABCA1 and APOA1 gene mutations decrease the amount of cholesterol or phospholipids available to form HDL, resulting in low levels of HDL in the blood. A shortage (deficiency) of HDL is believed to increase the risk of cardiovascular disease. |
symptoms | What are the symptoms of Mucopolysaccharidosis type VII ? | What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. 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 pleura 90% Ascites 90% Coarse facial features 90% Cognitive impairment 90% Lymphedema 90% Malar flattening 90% Opacification of the corneal stroma 90% Recurrent respiratory infections 90% Scoliosis 90% Short stature 90% Umbilical hernia 90% Abnormality of the hip bone 50% Abnormality of the liver 50% Epiphyseal stippling 50% Hydrops fetalis 50% Limitation of joint mobility 50% Muscular hypotonia 50% Splenomegaly 50% Talipes 50% Arteriovenous malformation 7.5% Enlarged thorax 7.5% Short neck 7.5% Abnormality of the heart valves - Acetabular dysplasia - Anterior beaking of lower thoracic vertebrae - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Corneal opacity - Dermatan sulfate excretion in urine - Dysostosis multiplex - Flexion contracture - Hearing impairment - Hepatomegaly - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - J-shaped sella turcica - Macrocephaly - Narrow greater sacrosciatic notches - Neurodegeneration - Pectus carinatum - Platyspondyly - Postnatal growth retardation - Proximal tapering of metacarpals - Thoracolumbar kyphosis - Urinary glycosaminoglycan excretion - 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 pyruvate dehydrogenase deficiency ? | Pyruvate dehydrogenase deficiency is believed to be a rare condition; however, its prevalence is unknown. |
symptoms | What are the symptoms of Chronic hiccups ? | What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. 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 movement 90% Functional respiratory abnormality 90% Recurrent singultus 90% Abnormality of temperature regulation 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Dehydration 7.5% Diabetes insipidus 7.5% Neoplasm of the nervous system 7.5% Renal insufficiency 7.5% Sleep disturbance 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) Transverse Myelitis ? | Transverse myelitis is a neurological disorder caused by inflammation across both sides of one level, or segment, of the spinal cord. The segment of the spinal cord at which the damage occurs determines which parts of the body are affected. Damage at one segment will affect function at that segment and segments below it. In people with transverse myelitis, inflammation usually occurs at the thoracic (upper back) level, causing problems with leg movement and bowel and bladder control, which require signals from the lower segments of the spinal cord. What usually begins as a sudden onset of lower back pain, muscle weakness, or abnormal sensations in the toes and feet can rapidly progress to more severe symptoms, including paralysis, urinary retention, and loss of bowel control. |
information | What is (are) Esthesioneuroblastoma ? | Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor. |
inheritance | Is 3-M syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
prevention | How to prevent What I need to know about Diarrhea ? | Two types of diarrhea can be preventedrotavirus diarrhea and travelers diarrhea.
Rotavirus Diarrhea
Two vaccines, RotaTeq and Rotarix, protect against rotavirusa common virus that causes diarrhea in babies and children. RotaTeq is given to babies in three doses at 2, 4, and 6 months of age. Rotarix is given in two doses. The first dose is given when the baby is 6 weeks old, and the second is given at least 4 weeks later but before the baby is 24 weeks old. To learn more about rotavirus vaccines, talk with your childs health care provider. You can also find more information at the Centers for Disease Control and Prevention rotavirus vaccination webpage at www.cdc.gov/vaccines/vpd-vac/rotavirus.
RotaTeq and Rotarix only prevent diarrhea caused by rotavirus. Children who have been vaccinated may still get diarrhea from another cause.
Travelers Diarrhea
People may develop travelers diarrhea while visiting developing areas of the world such as Latin America, Africa, and southern Asia. Travelers diarrhea is caused by eating food or drinking water that contains harmful bacteria, viruses, or parasites.
You can prevent travelers diarrhea by being careful:
- Do not drink tap water, use tap water to brush your teeth, or use ice cubes made from tap water. - Do not eat or drink unpasteurized milk or milk products. - Do not eat raw fruits and vegetables unless they can be peeled and you peel them yourself. - Do not eat raw or rare meat and fish. - Do not eat meat or shellfish that is not hot when served to you. - Do not eat food sold by street vendors.
You can drink bottled water, carbonated soft drinks, and hot drinks such as coffee and tea.
Before traveling outside the United States, talk with your health care provider. Your health care provider may suggest taking medicine with you. In some cases, taking antibiotics before traveling can help prevent travelers diarrhea. And early treatment with antibiotics can shorten an episode of travelers diarrhea. |
information | What is (are) gyrate atrophy of the choroid and retina ? | Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50. Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period. Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy. Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses. In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness. |
treatment | What are the treatments for Legius syndrome ? | These resources address the diagnosis or management of Legius syndrome: - Children's Tumor Foundation: NF1 or Legius Syndrome--An Emerging Challenge of Clinical Diagnosis - Gene Review: Gene Review: Legius Syndrome - Genetic Testing Registry: Legius 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 |
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