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treatment | What are the treatments for MECP2 duplication syndrome ? | These resources address the diagnosis or management of MECP2 duplication syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Cleveland Clinic: Spasticity - Gene Review: Gene Review: MECP2 Duplication Syndrome - Genetic Testing Registry: MECP2 duplication 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 |
frequency | How many people are affected by megalencephaly-capillary malformation syndrome ? | The prevalence of MCAP is unknown. At least 150 affected individuals have been reported in the medical literature. Because the condition is often thought to be misdiagnosed or underdiagnosed, it may be more common than reported. |
research | what research (or clinical trials) is being done for Neuroacanthocytosis ? | The NINDS supports research on disorders such as neuroacanthocytosis, aimed at increasing scientific understanding of the disorders and finding ways to prevent and treat them. The genetic mutations responsible for some types of neuroacanthocytosis have recently been identified. Researchers are examining the role of the basal ganglia in neuroacanthocytosis and hope to correlate the specific genetic abnormalities with the clinical features of the disease. Other research is aimed at identifying possible causes of sudden death related to heart muscle abnormalities, which are observed in some individuals with neuroacanthocytosis. |
information | What is (are) Childhood Hodgkin Lymphoma ? | Key Points
- Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two types of childhood Hodgkin lymphoma. - Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. - Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. - Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options.
Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system.
Childhood Hodgkin lymphoma is a type of cancer that develops in the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. The spleen is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. There are two general types of lymphoma: Hodgkin lymphoma and non-Hodgkin lymphoma. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) Hodgkin lymphoma often occurs in adolescents 15 to 19 years of age. The treatment for children and adolescents is different than treatment for adults. (See the PDQ summary on Adult Hodgkin Lymphoma Treatment for more information.)
There are two types of childhood Hodgkin lymphoma.
The two types of childhood Hodgkin lymphoma are: - Classical Hodgkin lymphoma. - Nodular lymphocyte-predominant Hodgkin lymphoma. Classical Hodgkin lymphoma is divided into four subtypes, based on how the cancer cells look under a microscope: - Lymphocyte-rich classical Hodgkin lymphoma. - Nodular sclerosis Hodgkin lymphoma. - Mixed cellularity Hodgkin lymphoma. - Lymphocyte-depleted Hodgkin lymphoma. |
symptoms | What are the symptoms of Ulnar-mammary syndrome ? | What are the signs and symptoms of Ulnar-mammary syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar-mammary syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the fingernails 90% Hypohidrosis 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the wrist 50% Aplasia/Hypoplasia of the nipples 50% Cryptorchidism 50% Decreased fertility 50% Hypoplasia of penis 50% Obesity 50% Short stature 50% Abnormality of the humerus 7.5% Abnormality of the metacarpal bones 7.5% Absent hand 7.5% Aplasia of the pectoralis major muscle 7.5% Arrhythmia 7.5% Breast aplasia 7.5% Camptodactyly of finger 7.5% Ectopic anus 7.5% Hernia of the abdominal wall 7.5% Hypoplastic toenails 7.5% Laryngomalacia 7.5% Pectus carinatum 7.5% Postaxial hand polydactyly 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Renal hypoplasia/aplasia 7.5% Short distal phalanx of finger 7.5% Sprengel anomaly 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Absent radius - Absent ulna - Anal atresia - Anal stenosis - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Axillary apocrine gland hypoplasia - Breast hypoplasia - Deformed radius - Delayed puberty - Ectopic posterior pituitary - Hypodontia - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic nipples - Hypoplastic scapulae - Imperforate hymen - Inguinal hernia - Inverted nipples - Micropenis - Shawl scrotum - Short 4th toe - Short 5th toe - Short clavicles - Short humerus - Sparse axillary hair - Sparse lateral eyebrow - Subglottic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
outlook | What is the outlook for Sotos Syndrome ? | Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. However, coordination problems may persist into adulthood. |
inheritance | Is GRN-related frontotemporal dementia inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has a parent and other family members with the condition. |
genetic changes | What are the genetic changes related to Jacobsen syndrome ? | Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the deletion includes the tip of chromosome 11. Larger deletions tend to cause more severe signs and symptoms than smaller deletions. The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. Depending on its size, the deleted region can contain from about 170 to more than 340 genes. Many of these genes have not been well characterized. However, genes in this region appear to be critical for the normal development of many parts of the body, including the brain, facial features, and heart. Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition. |
frequency | How many people are affected by mitochondrial complex III deficiency ? | The prevalence of mitochondrial complex III deficiency is unknown, although the condition is thought to be rare. |
considerations | What to do for Chronic Diarrhea in Children ? | A health care provider may recommend changing a childs diet to treat the cause of chronic diarrhea. Making sure that children receive proper nutrition is important for growth and development. A childs parent or caretaker should talk with a health care provider about changing the childs diet to treat chronic diarrhea. |
information | What is (are) Kuskokwim disease ? | Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner. |
symptoms | What are the symptoms of Bile Duct Cancer (Cholangiocarcinoma) ? | Signs of bile duct cancer include jaundice and pain in the abdomen. These and other signs and symptoms may be caused by bile duct cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin or whites of the eyes). - Dark urine. - Clay colored stool. - Pain in the abdomen. - Fever. - Itchy skin. - Nausea and vomiting. - Weight loss for an unknown reason. |
treatment | What are the treatments for Children's interstitial lung disease ? | How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the chILD worse. See the Children's Interstitial and Diffuse Lung Disease Foundation for more detailed information about treatment. |
inheritance | Is Turner syndrome inherited ? | Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome. Mosaic Turner syndrome is also not inherited. In an affected individual, it occurs as a random event during cell division in early fetal development. As a result, some of an affected person's cells have the usual two sex chromosomes, and other cells have only one copy of the X chromosome. Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism. Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next. |
inheritance | Is acute promyelocytic leukemia inherited ? | Acute promyelocytic leukemia is not inherited but arises from a translocation in the body's cells that occurs after conception. |
treatment | What are the treatments for Heart Failure ? | For severe heart failure, patients may require additional oxygen, a mechanical heart pump, or a heart transplant. |
genetic changes | What are the genetic changes related to Adams-Oliver syndrome ? | Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. Each of the known genes plays an important role during embryonic development, and changes in any one of them can impair this tightly controlled process, leading to the signs and symptoms of Adams-Oliver syndrome. The proteins produced from the ARHGAP31 and DOCK6 genes are both involved in the regulation of proteins called GTPases, which transmit signals that are critical for various aspects of embryonic development. The ARHGAP31 and DOCK6 proteins appear to be especially important for GTPase regulation during development of the limbs, skull, and heart. GTPases are often called molecular switches because they can be turned on and off. The DOCK6 protein turns them on, and the ARHGAP31 protein turns them off. Mutations in the DOCK6 gene lead to production of an abnormally short DOCK6 protein that is likely unable to turn on GTPases, which reduces their activity. Mutations in the ARHGAP31 gene also decrease GTPase activity by leading to production of an abnormally active ARHGAP31 protein, which turns off GTPases when it normally would not. This decline in GTPase activity leads to the skin problems, bone malformations, and other features characteristic of Adams-Oliver syndrome. The proteins produced from the NOTCH1, DLL4, and RBPJ genes are part of a signaling pathway known as the Notch pathway. Notch signaling controls how certain types of cells develop in the growing embryo, including those that form the bones, heart, muscles, nerves, and blood vessels. The Notch1 and DLL4 proteins fit together like a lock and its key to stimulate one part of the Notch pathway, which is important for development of blood vessels. The NOTCH1 and DLL4 gene mutations involved in Adams-Oliver syndrome likely impair Notch1 signaling, which may underlie blood vessel and heart abnormalities in some people with Adams-Oliver syndrome. Researchers suspect that the other features of the condition may be due to abnormal blood vessel development before birth. Signaling through Notch1 and other Notch proteins stimulates the RBP-J protein, produced from the RBPJ gene, to attach (bind) to specific regions of DNA and control the activity of genes that play a role in cellular development in multiple tissues throughout the body. The RBPJ gene mutations involved in Adams-Oliver syndrome alter the region of the RBP-J protein that normally binds DNA. The altered protein is unable to bind to DNA, preventing it from turning on particular genes. These changes in gene activity impair the proper development of the skin, bones, and other tissues, leading to the features of Adams-Oliver syndrome. Little is known about how mutations in the EOGT gene cause Adams-Oliver syndrome. The protein produced from this gene modifies certain proteins by transferring a molecule called N-acetylglucosamine to them. It is thought that the EOGT protein modifies Notch proteins, which stimulate the Notch signaling pathway. However, the impact of the modification on Notch signaling is unclear. At least three mutations in the EOGT gene have been identified in people with Adams-Oliver syndrome, but how the genetic changes contribute to the signs and symptoms of this disorder is still unknown. |
information | What is (are) Financial Help for Diabetes Care ? | People who enroll in Medicare can register with www.MyMedicare.gov, a secure online service, and use the site to access their personal Medicare information at any time. People can view their claims and order history, and see a description of covered preventive services. |
symptoms | What are the symptoms of Spondyloepiphyseal dysplasia Maroteaux type ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. 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 eye - Autosomal dominant inheritance - Genu valgum - Platyspondyly - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
outlook | What is the outlook for Uterine Sarcoma ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type and size of the tumor. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back). |
inheritance | Is multiple familial trichoepithelioma inherited ? | Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. |
treatment | What are the treatments for Skin Cancer ? | Many Treatment Options There are many treatment options for people with melanoma and non-melanoma skin cancer. The choice of treatment depends on your age and general health, the site of the cancer, the stage of the cancer, whether or not it has spread beyond the original site, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better chances for successful outcomes. In some cases, all of the cancer is removed during the biopsy, and no further treatment is needed. For others, more treatment will be needed, and a doctor can explain all of the treatment options. Working With a Team of Specialists A person with skin cancer, particularly if it is melanoma, is often treated by a team of specialists. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist (a specialist in cancer treatment), a dermatologist (a specialist in skin problems), a surgeon, a radiation oncologist (a specialist in radiation therapy), and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Plan Ahead for Doctor Visits When planning your skin cancer treatment, you may meet with many different health care providers, get lots of information, and have lots of questions. Plan ahead for doctor appointments by writing down your questions and bringing a paper and pen to take notes. Sometimes it also helps to bring a friend or family member to your doctor appointments so they can help you listen, take notes, ask questions, and give you support. Clinical Trials for Skin Cancer Some skin cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe, effective, and better than the current standard of care. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Talk to your doctor if you are interested in taking part in a clinical trial. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. - Click here to see a list of the current clinical trials on melanoma. - Click here to see a list of the current clinical trials on non-melanoma skin cancer. Click here to see a list of the current clinical trials on melanoma. Click here to see a list of the current clinical trials on non-melanoma skin cancer. A separate window will open. Click the "x" in the upper right hand corner of the "Clinical Trials" window to return here. |
symptoms | What are the symptoms of Hemophilia ? | The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
Excessive Bleeding
The extent of bleeding depends on how severe the hemophilia is.
Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision.
Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).
Signs of external bleeding may include:
Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
Nosebleeds for no obvious reason
Heavy bleeding from a minor cut
Bleeding from a cut that resumes after stopping for a short time
Signs of internal bleeding may include:
Blood in the urine (from bleeding in the kidneys or bladder)
Blood in the stool (from bleeding in the intestines or stomach)
Large bruises (from bleeding into the large muscles of the body)
Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.
At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.
Bleeding in the Brain
Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
Long-lasting, painful headaches or neck pain or stiffness
Repeated vomiting
Sleepiness or changes in behavior
Sudden weakness or clumsiness of the arms or legs or problems walking
Double vision
Convulsions or seizures |
causes | What causes Catamenial pneumothorax ? | What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. It is more often seen in women who are about 34 years old. Thoracic endometriosis can be found in most cases of catamenial pneumothorax. Pneumothorax associated with endometriosis may also occur without being related with menstruation (non-catamenial pneumothorax) even in cases with no symptoms or without diagnosis of pelvic endometriosis. |
information | What is (are) High Blood Cholesterol ? | To understand high blood cholesterol (ko-LES-ter-ol), it helps to learn about cholesterol. Cholesterol is a waxy, fat-like substance thats found in all cells of the body.
Your body needs some cholesterol to make hormones, vitamin D, and substances that help you digest foods. Your body makes all the cholesterol it needs. However, cholesterol also is found in some of the foods you eat.
Cholesterol travels through your bloodstream in small packages called lipoproteins (lip-o-PRO-teens). These packages are made of fat (lipid) on the inside and proteins on the outside.
Two kinds of lipoproteins carry cholesterol throughout your body: low-density lipoproteins (LDL) and high-density lipoproteins (HDL). Having healthy levels of both types of lipoproteins is important.
LDL cholesterol sometimes is called bad cholesterol. A high LDL level leads to a buildup of cholesterol in your arteries. (Arteries are blood vessels that carry blood from your heart to your body.)
HDL cholesterol sometimes is called good cholesterol. This is because it carries cholesterol from other parts of your body back to your liver. Your liver removes the cholesterol from your body.
What Is High Blood Cholesterol?
High blood cholesterol is a condition in which you have too much cholesterol in your blood. By itself, the condition usually has no signs or symptoms. Thus, many people dont know that their cholesterol levels are too high.
People who have high blood cholesterol have a greater chance of getting coronary heart disease, also called coronary artery disease. (In this article, the term heart disease refers to coronary heart disease.)
The higher the level of LDL cholesterol in your blood, the GREATER your chance is of getting heart disease. The higher the level of HDL cholesterol in your blood, the LOWER your chance is of getting heart disease.
Coronary heart disease is a condition in which plaque (plak) builds up inside the coronary (heart) arteries. Plaque is made up of cholesterol, fat, calcium, and other substances found in the blood. When plaque builds up in the arteries, the condition is called atherosclerosis (ATH-er-o-skler-O-sis).
Atherosclerosis
Over time, plaque hardens and narrows your coronary arteries. This limits the flow of oxygen-rich blood to the heart.
Eventually, an area of plaque can rupture (break open). This causes a blood clot to form on the surface of the plaque. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery.
If the flow of oxygen-rich blood to your heart muscle is reduced or blocked, angina (an-JI-nuh or AN-juh-nuh) or a heart attack may occur.
Angina is chest pain or discomfort. It may feel like pressure or squeezing in your chest. The pain also may occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion.
A heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. If blood flow isnt restored quickly, the section of heart muscle begins to die. Without quick treatment, a heart attack can lead to serious problems or death.
Plaque also can build up in other arteries in your body, such as the arteries that bring oxygen-rich blood to your brain and limbs. This can lead to problems such as carotid artery disease, stroke, and peripheral artery disease.
Outlook
Lowering your cholesterol may slow, reduce, or even stop the buildup of plaque in your arteries. It also may reduce the risk of plaque rupturing and causing dangerous blood clots.
Sources: National Center for Health Statistics (20072010). National Health and Nutrition Examination Survey; National Center for Health Statistics (20052008). National Health and Nutrition Examination Survey; National Heart, Lung, and Blood Institute, National Cholesterol Education Program (2002). Third report of the National Cholesterol Education Program (NCEP) exert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report. |
information | What is (are) Camptocormism ? | Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinsons disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause. |
considerations | What to do for Cystocele ? | - A cystocele, also called a prolapsed or dropped bladder, is the bulging or dropping of the bladder into the vagina. - A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina or through the vaginal opening. - Diagnosing a cystocele requires medical tests and a physical exam of the vagina. - Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms. |
treatment | What are the treatments for Prostate Enlargement: Benign Prostatic Hyperplasia ? | Treatment options for benign prostatic hyperplasia may include
- lifestyle changes - medications - minimally invasive procedures - surgery
A health care provider treats benign prostatic hyperplasia based on the severity of symptoms, how much the symptoms affect a mans daily life, and a mans preferences.
Men may not need treatment for a mildly enlarged prostate unless their symptoms are bothersome and affecting their quality of life. In these cases, instead of treatment, a urologist may recommend regular checkups. If benign prostatic hyperplasia symptoms become bothersome or present a health risk, a urologist most often recommends treatment.
Lifestyle Changes
A health care provider may recommend lifestyle changes for men whose symptoms are mild or slightly bothersome. Lifestyle changes can include
- reducing intake of liquids, particularly before going out in public or before periods of sleep - avoiding or reducing intake of caffeinated beverages and alcohol - avoiding or monitoring the use of medications such as decongestants, antihistamines, antidepressants, and diuretics - training the bladder to hold more urine for longer periods - exercising pelvic floor muscles - preventing or treating constipation
Medications
A health care provider or urologist may prescribe medications that stop the growth of or shrink the prostate or reduce symptoms associated with benign prostatic hyperplasia:
- alpha blockers - phosphodiesterase-5 inhibitors - 5-alpha reductase inhibitors - combination medications
Alpha blockers. These medications relax the smooth muscles of the prostate and bladder neck to improve urine flow and reduce bladder blockage:
- terazosin (Hytrin) - doxazosin (Cardura) - tamsulosin (Flomax) - alfuzosin (Uroxatral) - silodosin (Rapaflo)
Phosphodiesterase-5 inhibitors. Urologists prescribe these medications mainly for erectile dysfunction. Tadalafil (Cialis) belongs to this class of medications and can reduce lower urinary tract symptoms by relaxing smooth muscles in the lower urinary tract. Researchers are working to determine the role of erectile dysfunction drugs in the long-term treatment of benign prostatic hyperplasia.
5-alpha reductase inhibitors. These medications block the production of DHT, which accumulates in the prostate and may cause prostate growth:
- finasteride (Proscar) - dutasteride (Avodart)
These medications can prevent progression of prostate growth or actually shrink the prostate in some men. Finasteride and dutasteride act more slowly than alpha blockers and are useful for only moderately enlarged prostates.
Combination medications. Several studies, such as the Medical Therapy of Prostatic Symptoms (MTOPS) study, have shown that combining two classes of medications, instead of using just one, can more effectively improve symptoms, urinary flow, and quality of life. The combinations include
- finasteride and doxazosin - dutasteride and tamsulosin (Jalyn), a combination of both medications that is available in a single tablet - alpha blockers and antimuscarinics
A urologist may prescribe a combination of alpha blockers and antimuscarinics for patients with overactive bladder symptoms. Overactive bladder is a condition in which the bladder muscles contract uncontrollably and cause urinary frequency, urinary urgency, and urinary incontinence. Antimuscarinics are a class of medications that relax the bladder muscles.
Minimally Invasive Procedures
Researchers have developed a number of minimally invasive procedures that relieve benign prostatic hyperplasia symptoms when medications prove ineffective. These procedures include
- transurethral needle ablation - transurethral microwave thermotherapy - high-intensity focused ultrasound - transurethral electrovaporization - water-induced thermotherapy - prostatic stent insertion
Minimally invasive procedures can destroy enlarged prostate tissue or widen the urethra, which can help relieve blockage and urinary retention caused by benign prostatic hyperplasia.
Urologists perform minimally invasive procedures using the transurethral method, which involves inserting a cathetera thin, flexible tubeor cystoscope through the urethra to reach the prostate. These procedures may require local, regional, or general anesthesia. Although destroying troublesome prostate tissue relieves many benign prostatic hyperplasia symptoms, tissue destruction does not cure benign prostatic hyperplasia. A urologist will decide which procedure to perform based on the mans symptoms and overall health.
Transurethral needle ablation. This procedure uses heat generated by radiofrequency energy to destroy prostate tissue. A urologist inserts a cystoscope through the urethra to the prostate. A urologist then inserts small needles through the end of the cystoscope into the prostate. The needles send radiofrequency energy that heats and destroys selected portions of prostate tissue. Shields protect the urethra from heat damage.
Transurethral microwave thermotherapy. This procedure uses microwaves to destroy prostate tissue. A urologist inserts a catheter through the urethra to the prostate, and a device called an antenna sends microwaves through the catheter to heat selected portions of the prostate. The temperature becomes high enough inside the prostate to destroy enlarged tissue. A cooling system protects the urinary tract from heat damage during the procedure.
High-intensity focused ultrasound. For this procedure, a urologist inserts a special ultrasound probe into the rectum, near the prostate. Ultrasound waves from the probe heat and destroy enlarged prostate tissue.
Transurethral electrovaporization. For this procedure, a urologist inserts a tubelike instrument called a resectoscope through the urethra to reach the prostate. An electrode attached to the resectoscope moves across the surface of the prostate and transmits an electric current that vaporizes prostate tissue. The vaporizing effect penetrates below the surface area being treated and seals blood vessels, which reduces the risk of bleeding.
Water-induced thermotherapy. This procedure uses heated water to destroy prostate tissue. A urologist inserts a catheter into the urethra so that a treatment balloon rests in the middle of the prostate. Heated water flows through the catheter into the treatment balloon, which heats and destroys the surrounding prostate tissue. The treatment balloon can target a specific region of the prostate, while surrounding tissues in the urethra and bladder remain protected.
Prostatic stent insertion. This procedure involves a urologist inserting a small device called a prostatic stent through the urethra to the area narrowed by the enlarged prostate. Once in place, the stent expands like a spring, and it pushes back the prostate tissue, widening the urethra. Prostatic stents may be temporary or permanent. Urologists generally use prostatic stents in men who may not tolerate or be suitable for other procedures.
Surgery
For long-term treatment of benign prostatic hyperplasia, a urologist may recommend removing enlarged prostate tissue or making cuts in the prostate to widen the urethra. Urologists recommend surgery when
- medications and minimally invasive procedures are ineffective - symptoms are particularly bothersome or severe - complications arise
Although removing troublesome prostate tissue relieves many benign prostatic hyperplasia symptoms, tissue removal does not cure benign prostatic hyperplasia.
Surgery to remove enlarged prostate tissue includes
- transurethral resection of the prostate (TURP) - laser surgery - open prostatectomy - transurethral incision of the prostate (TUIP)
A urologist performs these surgeries, except for open prostatectomy, using the transurethral method. Men who have these surgical procedures require local, regional, or general anesthesia and may need to stay in the hospital.
The urologist may prescribe antibiotics before or soon after surgery to prevent infection. Some urologists prescribe antibiotics only when an infection occurs.
Immediately after benign prostatic hyperplasia surgery, a urologist may insert a special catheter, called a Foley catheter, through the opening of the penis to drain urine from the bladder into a drainage pouch.
TURP. With TURP, a urologist inserts a resectoscope through the urethra to reach the prostate and cuts pieces of enlarged prostate tissue with a wire loop. Special fluid carries the tissue pieces into the bladder, and the urologist flushes them out at the end of the procedure. TURP is the most common surgery for benign prostatic hyperplasia and considered the gold standard for treating blockage of the urethra due to benign prostatic hyperplasia.
Laser surgery. With this surgery, a urologist uses a high-energy laser to destroy prostate tissue. The urologist uses a cystoscope to pass a laser fiber through the urethra into the prostate. The laser destroys the enlarged tissue. The risk of bleeding is lower than in TURP and TUIP because the laser seals blood vessels as it cuts through the prostate tissue. However, laser surgery may not effectively treat greatly enlarged prostates.
Open prostatectomy. In an open prostatectomy, a urologist makes an incision, or cut, through the skin to reach the prostate. The urologist can remove all or part of the prostate through the incision. This surgery is used most often when the prostate is greatly enlarged, complications occur, or the bladder is damaged and needs repair. Open prostatectomy requires general anesthesia, a longer hospital stay than other surgical procedures for benign prostatic hyperplasia, and a longer rehabilitation period. The three open prostatectomy procedures are retropubic prostatectomy, suprapubic prostatectomy, and perineal prostatectomy. The recovery period for open prostatectomy is different for each man who undergoes the procedure. However, it typically takes anywhere from 3 to 6 weeks.4
TUIP. A TUIP is a surgical procedure to widen the urethra. During a TUIP, the urologist inserts a cystoscope and an instrument that uses an electric current or a laser beam through the urethra to reach the prostate. The urologist widens the urethra by making a few small cuts in the prostate and in the bladder neck. Some urologists believe that TUIP gives the same relief as TURP except with less risk of side effects.
After surgery, the prostate, urethra, and surrounding tissues may be irritated and swollen, causing urinary retention. To prevent urinary retention, a urologist inserts a Foley catheter so urine can drain freely out of the bladder. A Foley catheter has a balloon on the end that the urologist inserts into the bladder. Once the balloon is inside the bladder, the urologist fills it with sterile water to keep the catheter in place. Men who undergo minimally invasive procedures may not need a Foley catheter.
The Foley catheter most often remains in place for several days. Sometimes, the Foley catheter causes recurring, painful, difficult-to-control bladder spasms the day after surgery. However, these spasms will eventually stop. A urologist may prescribe medications to relax bladder muscles and prevent bladder spasms. These medications include
- oxybutynin chloride (Ditropan) - solifenacin (VESIcare) - darifenacin (Enablex) - tolterodine (Detrol) - hyoscyamine (Levsin) - propantheline bromide (Pro-Banthine) |
symptoms | What are the symptoms of Myotonic dystrophy type 1 ? | What are the signs and symptoms of Myotonic dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy 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) Arrhythmia 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cataract 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Dysphagia - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Obsessive-compulsive trait - Polyhydramnios - Respiratory distress - Testicular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Anophthalmia plus syndrome ? | Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified. |
information | What is (are) Encephalitis lethargica ? | Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes including psychosis. A world-wide epidemic of encephalitis lethargica occurred from 1917 to 1928. The cause of this condition is unknown, and treatment depends on a person's symptoms. Levodopa and other antiparkinson drugs often produce dramatic responses. |
symptoms | What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ? | What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II. The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin 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) Autosomal recessive inheritance - Cirrhosis - Elevated plasma citrulline - Failure to thrive - Growth delay - Hyperbilirubinemia - Hypercholesterolemia - Hypermethioninemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Intrahepatic cholestasis - 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) Factor XI deficiency ? | Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene. The condition is generally inherited in an autosomal recessive manner; however, it may follow an autosomal dominant pattern in some families. Treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). Factor XI concentrates may be available for factor replacement in some countries. |
information | What is (are) Laron syndrome ? | Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very short stature. If the condition is not treated, adult males typically reach a maximum height of about 4.5 feet; adult females may be just over 4 feet tall. Other features of untreated Laron syndrome include reduced muscle strength and endurance, low blood sugar levels (hypoglycemia) in infancy, small genitals and delayed puberty, hair that is thin and fragile, and dental abnormalities. Many affected individuals have a distinctive facial appearance, including a protruding forehead, a sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). Affected individuals have short limbs compared to the size of their torso, as well as small hands and feet. Adults with this condition tend to develop obesity. However, the signs and symptoms of Laron syndrome vary, even among affected members of the same family. Studies suggest that people with Laron syndrome have a significantly reduced risk of cancer and type 2 diabetes. Affected individuals appear to develop these common diseases much less frequently than their unaffected relatives, despite having obesity (a risk factor for both cancer and type 2 diabetes). However, people with Laron syndrome do not seem to have an increased lifespan compared with their unaffected relatives. |
symptoms | What are the symptoms of Hemangiomatosis, familial pulmonary capillary ? | What are the signs and symptoms of Hemangiomatosis, familial pulmonary capillary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiomatosis, familial pulmonary capillary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cough - Dyspnea - Pulmonary capillary hemangiomatosis - Pulmonary hypertension - Pulmonary venoocclusive disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Frontometaphyseal dysplasia ? | What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental morphology 90% Abnormality of frontal sinus 90% Abnormality of the metaphyses 90% Bowing of the long bones 90% Camptodactyly of finger 90% Craniofacial hyperostosis 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Abnormal form of the vertebral bodies 50% Abnormality of the palate 50% Accelerated skeletal maturation 50% Aplasia/Hypoplasia of the thumb 50% Arachnodactyly 50% Conductive hearing impairment 50% Elbow dislocation 50% Scoliosis 50% Sensorineural hearing impairment 50% Skeletal muscle atrophy 50% Synostosis of carpal bones 50% Ulnar deviation of finger 50% Abnormality of the larynx 7.5% Abnormality of the urethra 7.5% Complete atrioventricular canal defect 7.5% Craniosynostosis 7.5% Tracheal stenosis 7.5% Ureteral stenosis 7.5% Ankle contracture - Antegonial notching of mandible - Anteriorly placed odontoid process - Broad phalanges of the hand - Coarse facial features - Coat hanger sign of ribs - Cor pulmonale - Coxa valga - Delayed eruption of teeth - Dental malocclusion - Elbow flexion contracture - Fused cervical vertebrae - Genu valgum - High palate - Hirsutism - Hydronephrosis - Hydroureter - Increased density of long bone diaphyses - Intellectual disability - Knee flexion contracture - Large foramen magnum - Long foot - Long phalanx of finger - Mitral valve prolapse - Partial fusion of carpals - Partial fusion of tarsals - Persistence of primary teeth - Pointed chin - Scapular winging - Selective tooth agenesis - Short chin - Stridor - Wide nasal bridge - Wrist flexion contracture - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Amyopathic dermatomyositis ? | What are the signs and symptoms of Amyopathic dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyopathic dermatomyositis. 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 eye 90% Autoimmunity 90% EMG abnormality 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Abnormal hair quantity 50% Abnormality of the nail 50% Acrocyanosis 50% Arthralgia 50% Arthritis 50% Chondrocalcinosis 50% Dry skin 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Pulmonary fibrosis 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Restrictive lung disease 50% Skin ulcer 50% Weight loss 50% Abnormality of eosinophils 7.5% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cutaneous photosensitivity 7.5% Feeding difficulties in infancy 7.5% Gangrene 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neurological speech impairment 7.5% Ovarian neoplasm 7.5% Pulmonary hypertension 7.5% Telangiectasia of the skin 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Stiff person syndrome ? | What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person 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) Adult onset - Agoraphobia - Anemia - Anxiety - Asymmetric limb muscle stiffness - Autoimmunity - Axial muscle stiffness - Depression - Exaggerated startle response - Fever - Frequent falls - Hyperhidrosis - Hyperreflexia - Hypertension - Lumbar hyperlordosis - Myoclonic spasms - Opisthotonus - Proximal limb muscle stiffness - Rigidity - Sporadic - Tachycardia - Vitiligo - 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) Urinary Tract Infections ? | A Common Problem With Aging Urinary tract infections (UTIs) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). But UTIs are most common in the bladder. A UTI in the bladder is called cystitis. Infections in the bladder can spread to the kidneys. A UTI in the kidneys is called pyelonephritis. Sometimes, a UTI can also develop in the urethra, but this is less common. A UTI in the urethra is called urethritis. Some UTIs Lead to Severe Problems Most UTIs are not serious. But some UTIs, such as kidney infections, can lead to severe problems. Bacteria from a kidney infection may spread to the bloodstream, causing a life-threatening condition called septicemia. When kidney infections occur frequently or last a long time, they may cause permanent damage to the kidneys, including kidney scars, poor kidney function, and high blood pressure. |
information | Do you have information about Drug Safety | Summary : In the U.S., the government's Food and Drug Administration (FDA) must approve any drug before it can be sold. This is true whether it's a prescription or an over-the-counter drug. The FDA evaluates the safety of a drug by looking at - Side effects - How it's manufactured - Results of animal testing and clinical trials The FDA also monitors a drug's safety after approval. For you, drug safety means buying online from only legitimate pharmacies and taking your medicines correctly. |
frequency | How many people are affected by cardiofaciocutaneous syndrome ? | Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition. |
treatment | What are the treatments for Greenberg dysplasia ? | These resources address the diagnosis or management of Greenberg dysplasia: - Genetic Testing Registry: Greenberg dysplasia - Lurie Children's Hospital of Chicago: Fetal Skeletal 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 |
frequency | How many people are affected by SOX2 anophthalmia syndrome ? | SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. |
inheritance | Is granulomatosis with polyangiitis inherited ? | The inheritance pattern of GPA is unknown. Most instances are sporadic and occur in individuals with no history of the disorder in their family. Only rarely is more than one member of the same family affected by the disorder. |
treatment | What are the treatments for mucolipidosis III alpha/beta ? | These resources address the diagnosis or management of mucolipidosis III alpha/beta: - Gene Review: Gene Review: Mucolipidosis III Alpha/Beta - Genetic Testing Registry: Pseudo-Hurler polydystrophy - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves 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 |
frequency | How many people are affected by myoclonic epilepsy with ragged-red fibers ? | MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. |
treatment | What are the treatments for Hemangiopericytoma ? | What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is recommended because of the excessive bleeding associated with these tumors. Embolization is a method of stopping the blood flow to the tumor. This can be done mechanicially or through the use of chemicals that cause blood vessels to close. If chemicals that kill cells are used during embolization the procedure is referred to as chemoembolization. |
information | What is (are) Townes-Brocks Syndrome ? | Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features. Other possible signs and symptoms of Townes-Brocks syndrome include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among affected individuals, even within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome. |
susceptibility | Who is at risk for Liver (Hepatocellular) Cancer? ? | Having hepatitis or cirrhosis can increase the risk of developing liver cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for liver cancer include: - Having hepatitis B or hepatitis C; having both hepatitis B and hepatitis C increases the risk even more. - Having cirrhosis, which can be caused by: - hepatitis (especially hepatitis C); or - drinking large amounts of alcohol for many years or being an alcoholic. - Eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly). |
susceptibility | Who is at risk for Low Vision? ? | People age 60 and older, as well as African Americans and Hispanics over age 45, are at higher risk. African Americans and Hispanics are at higher risk for low vision because they are at higher risk for developing diabetes and diabetic retinopathy, and African Americans are at a higher risk for developing glaucoma. |
treatment | What are the treatments for Pituitary Tumors ? | Key Points
- There are different types of treatment for patients with pituitary tumors. - Four types of standard treatment are used: - Surgery - Radiation therapy - Drug therapy - 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 cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with pituitary tumors.
Different types of treatments are available for patients with pituitary tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. 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.
Four types of standard treatment are used:
Surgery Many pituitary tumors can be removed by surgery using one of the following operations: - Transsphenoidal surgery: A type of surgery in which the instruments are inserted into part of the brain by going through an incision (cut) made under the upper lip or at the bottom of the nose between the nostrils and then through the sphenoid bone (a butterfly-shaped bone at the base of the skull) to reach the pituitary gland. The pituitary gland lies just above the sphenoid bone. - Endoscopic transsphenoidal surgery: A type of surgery in which an endoscope is inserted through an incision (cut) made at the back of the inside of the nose and then through the sphenoid bone to reach the pituitary gland. An endoscope is a thin, tube-like instrument with a light, a lens for viewing, and a tool for removing tumor tissue. - Craniotomy: Surgery to remove the tumor through an opening made in the skull. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. This type of radiation therapy may include the following: - Stereotactic radiosurgery: A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated. External radiation therapy is used to treat pituitary tumors. Drug therapy Drugs may be given to stop a functioning pituitary tumor from making too many hormones. Chemotherapy Chemotherapy may be used as palliative treatment for pituitary carcinomas, to relieve symptoms and improve the patient's quality of life. Chemotherapy 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 of the cancer being treated.
New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options for Pituitary Tumors
Non-functioning Pituitary Tumors
Treatment may include the following: - Surgery (transsphenoidal surgery, if possible) to remove the tumor, followed by watchful waiting (closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change). Radiation therapy is given if the tumor comes back. - Radiation therapy alone. Treatment for luteinizing hormone -producing and follicle-stimulating hormone -producing tumors is usually transsphenoidal surgery to remove the tumor.
Prolactin-Producing Pituitary Tumors
Treatment may include the following: - Drug therapy to stop the tumor from making prolactin and to stop the tumor from growing. - Surgery to remove the tumor (transsphenoidal surgery or craniotomy) when the tumor does not respond to drug therapy or when the patient cannot take the drug. - Radiation therapy. - Surgery followed by radiation therapy.
ACTH-Producing Pituitary Tumors
Treatment may include the following: - Surgery (usually transsphenoidal surgery) to remove the tumor, with or without radiation therapy. - Radiation therapy alone. - Drug therapy to stop the tumor from making ACTH. - A clinical trial of stereotactic radiation surgery.
Growth HormoneProducing Pituitary Tumors
Treatment may include the following: - Surgery (usually transsphenoidal or endoscopic transsphenoidal surgery) to remove the tumor, with or without radiation therapy. - Drug therapy to stop the tumor from making growth hormone.
Thyroid-Stimulating HormoneProducing Tumors
Treatment may include the following: - Surgery (usually transsphenoidal surgery) to remove the tumor, with or without radiation therapy. - Drug therapy to stop the tumor from making hormones.
Pituitary Carcinomas
Treatment of pituitary carcinomas is palliative, to relieve symptoms and improve the quality of life. Treatment may include the following: - Surgery (transsphenoidal surgery or craniotomy) to remove the cancer, with or without radiation therapy. - Drug therapy to stop the tumor from making hormones. - Chemotherapy.
Recurrent Pituitary Tumors
Treatment may include the following: - Radiation therapy. - A clinical trial of stereotactic radiation surgery. |
outlook | What is the outlook for Subacute Sclerosing Panencephalitis ? | Most individuals with SSPE will die within 1 to 3 years of diagnosis. In a small percentage of people, the disease will progress rapidly, leading to death over a short course within three months of diagnosis. Another small group will have a chronic, slowly progressive form, some with relapses and remissions. A very small number (approximately 5 percent) may experience spontaneous long term improvement and regain lost function. Prevention, in the form of measles vaccination, is the only real "cure" for SSPE. |
information | What is (are) Hypotension ? | Hypotension (HI-po-TEN-shun) is abnormally low blood pressure. Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood.
Blood pressure is measured as systolic (sis-TOL-ik) and diastolic (di-a-STOL-ik) pressures. "Systolic" refers to blood pressure when the heart beats while pumping blood. "Diastolic" refers to blood pressure when the heart is at rest between beats.
You most often will see blood pressure numbers written with the systolic number above or before the diastolic number, such as 120/80 mmHg. (The mmHg is millimeters of mercurythe units used to measure blood pressure.)
Normal blood pressure in adults is lower than 120/80 mmHg. Hypotension is blood pressure that's lower than 90/60 mmHg.
Overview
Blood pressure doesn't stay the same all the time. It lowers as you sleep and rises when you wake up. Blood pressure also rises when you're excited, nervous, or active.
Your body is very sensitive to changes in blood pressure. For example, if you stand up quickly, your blood pressure may drop for a short time. Your body adjusts your blood pressure to make sure enough blood and oxygen are flowing to your brain, kidneys, and other vital organs.
Most forms of hypotension happen because your body can't bring blood pressure back to normal or can't do it fast enough.
Some people have low blood pressure all the time. They have no signs or symptoms, and their low blood pressure is normal for them.
In other people, certain conditions or factors cause abnormally low blood pressure. As a result, less blood and oxygen flow to the body's organs.
For the most part, hypotension is a medical concern only if it causes signs or symptoms or is linked to a serious condition, such as heart disease. Signs and symptoms of hypotension may include dizziness, fainting, cold and sweaty skin, fatigue (tiredness), blurred vision, or nausea (feeling sick to your stomach).
In extreme cases, hypotension can lead to shock.
Outlook
In a healthy person, low blood pressure without signs or symptoms usually isn't a problem and needs no treatment. If it causes signs or symptoms, your doctor will try to find and treat the condition that's causing it.
Hypotension can be dangerous. It can make you fall because of dizziness or fainting. Shock, a severe form of hypotension, is a condition that's often fatal if not treated right away. With prompt and proper treatment, shock can be successfully treated. |
information | Do you have information about Dialysis | Summary : When your kidneys are healthy, they clean your blood. They also make hormones that keep your bones strong and your blood healthy. When your kidneys fail, you need treatment to replace the work your kidneys used to do. Unless you have a kidney transplant, you will need a treatment called dialysis. There are two main types of dialysis. Both types filter your blood to rid your body of harmful wastes, extra salt, and water. - Hemodialysis uses a machine. It is sometimes called an artificial kidney. You usually go to a special clinic for treatments several times a week. - Peritoneal dialysis uses the lining of your abdomen, called the peritoneal membrane, to filter your blood. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
treatment | What are the treatments for Emery-Dreifuss muscular dystrophy ? | These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy: - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy 1, X-linked - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Muscular dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
treatment | What are the treatments for early-onset primary dystonia ? | These resources address the diagnosis or management of early-onset primary dystonia: - Gene Review: Gene Review: DYT1 Early-Onset Primary Dystonia - Genetic Testing Registry: Dystonia 1 - MedlinePlus Encyclopedia: Movement - uncontrolled or slow These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) histidinemia ? | Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition. The combination of histidinemia and a medical complication during or soon after birth (such as a temporary lack of oxygen) might increase a person's chances of developing intellectual disability, behavioral problems, or learning disorders. |
information | What is (are) MYH-associated polyposis ? | MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene. |
information | What is (are) Landau-Kleffner syndrome ? | Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems. Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started promptly. The prognosis varies. Some children may have a permanent language disorder, while others may regain much of their language abilities (although it may take months or years). |
treatment | What are the treatments for Alzheimer's Disease ? | Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild or moderate Alzheimer's, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimer's, although it also has limited effects. All of these medicines have possible side effects. Learn how Alzheimers medications work, how to take them, and where to find more information. Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution. |
information | Do you have information about Genetic Testing | Summary : Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include - Finding genetic diseases in unborn babies - Finding out if people carry a gene for a disease and might pass it on to their children - Screening embryos for disease - Testing for genetic diseases in adults before they cause symptoms - Making a diagnosis in a person who has disease symptoms - Figuring out the type or dose of a medicine that is best for a certain person People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing. NIH: National Human Genome Research Institute |
frequency | How many people are affected by autosomal dominant vitreoretinochoroidopathy ? | ADVIRC is considered a rare disease. Its prevalence is unknown. |
symptoms | What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ? | What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. 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 calcium-phosphate metabolism 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Delayed eruption of teeth 90% Nephropathy 90% Amelogenesis imperfecta - Autosomal recessive inheritance - Dagger-shaped pulp calcifications - Delayed eruption of permanent teeth - Enuresis - Gingival overgrowth - Impaired renal concentrating ability - Nephrocalcinosis - Overgrowth - Polyuria - Renal insufficiency - 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) Klippel Feil syndrome ? | Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. |
treatment | What are the treatments for Cirrhosis ? | Treatment for cirrhosis depends on the cause of the disease and whether complications are present. In the early stages of cirrhosis, the goals of treatment are to slow the progression of tissue scarring in the liver and prevent complications. As cirrhosis progresses, a person may need additional treatments and hospitalization to manage complications. Treatment may include the following:
Avoiding Alcohol and Illegal Substances
People with cirrhosis should not drink any alcohol or take any illegal substances, as both will cause more liver damage.
Preventing Problems with Medications
People with cirrhosis should be careful about starting new medications and should consult a health care provider before taking prescription medications, over-the-counter medications, or vitamins. People with cirrhosis should avoid complementary and alternative medications, such as herbs.
Cirrhosis slows the livers ability to filter medications from the blood. When this slowdown occurs, medications act longer than expected and build up in the body. Some medications and vitamins may also affect liver function.
Viral Hepatitis Vaccination and Screening
All people with cirrhosis should consider vaccination against hepatitis A and B. An infection with one of these hepatitis viruses can cause cirrhosis to get worse. Vaccination can easily prevent both infections.
People with cirrhosis should also get a screening blood test for hepatitis C.
Treating Causes of Cirrhosis
Health care providers can treat some causes of cirrhosis, for example, by prescribing antiviral medications for hepatitis B and C. In some instances, these medications cure the viral infection. Health care providers treat autoimmune hepatitis with corticosteroids and other medications that suppress the immune system. Health care providers can treat hemochromatosis and Wilson diseaseinherited forms of liver disease caused by the buildup of iron or copper in the liverif detected early. Health care providers usually treat liver diseases due to blockage or loss of bile ducts with ursodiol (Actigall, Urso). Ursodiol is a nontoxic bile acid that people can take orally. Ursodiol replaces the bile acids that are normally produced by the liver, which are toxic and build up in the liver when the bile ducts are blocked.
Treating Symptoms and Complications of Cirrhosis
Itching and abdominal pain. A health care provider may give medications to treat various symptoms of cirrhosis, such as itching and abdominal pain.
Portal hypertension. A health care provider may prescribe a beta-blocker or nitrate to treat portal hypertension. Beta-blockers lower blood pressure by helping the heart beat slower and with less force, and nitrates relax and widen blood vessels to let more blood flow to the heart and reduce the hearts workload.
Varices. Beta-blockers can lower the pressure in varices and reduce the likelihood of bleeding. Bleeding in the stomach or esophagus requires an immediate upper endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto look for varices. The health care provider may use the endoscope to perform a band ligation, a procedure that involves placing a special rubber band around the varices that causes the tissue to die and fall off. A gastroenterologista doctor who specializes in digestive diseasesperforms the procedure at a hospital or an outpatient center. People who have had varices in the past may need to take medication to prevent future episodes.
Edema and ascites. Health care providers prescribe diureticsmedications that remove fluid from the bodyto treat edema and ascites. A health care provider may remove large amounts of ascitic fluid from the abdomen and check for spontaneous bacterial peritonitis. A health care provider may prescribe bacteria-fighting medications called antibiotics to prevent infection. He or she may prescribe oral antibiotics; however, severe infection with ascites requires intravenous (IV) antibiotics.
Hepatic encephalopathy. A health care provider treats hepatic encephalopathy by cleansing the bowel with lactulose, a laxative given orally or as an enemaa liquid put into the rectum. A health care provider may also add antibiotics to the treatment. Hepatic encephalopathy may improve as other complications of cirrhosis are controlled.
Hepatorenal syndrome. Some people with cirrhosis who develop hepatorenal syndrome must undergo regular dialysis treatment, which filters wastes and extra fluid from the body by means other than the kidneys. People may also need medications to improve blood flow through the kidneys.
Osteoporosis. A health care provider may prescribe bisphosphonate medications to improve bone density.
Gallstones and bile duct stones. A health care provider may use surgery to remove gallstones. He or she may use endoscopic retrograde cholangiopancreatography, which uses balloons and basketlike devices, to retrieve the bile duct stones.
Liver cancer. A health care provider may recommend screening tests every 6 to 12 months to check for signs of liver cancer. Screening tests can find cancer before the person has symptoms of the disease. Cancer treatment is usually more effective when the health care provider finds the disease early. Health care providers use blood tests, ultrasound, or both to screen for liver cancer in people with cirrhosis. He or she may treat cancer with a combination of surgery, radiation, and chemotherapy. |
frequency | How many people are affected by 22q11.2 duplication ? | The prevalence of the 22q11.2 duplication in the general population is difficult to determine. Because many individuals with this duplication have no associated symptoms, their duplication may never be detected. Most people tested for the 22q11.2 duplication have come to medical attention as a result of developmental delay or other problems affecting themselves or a family member. In one study, about 1 in 700 people tested for these reasons had the 22q11.2 duplication. Overall, more than 60 individuals with the duplication have been identified. |
symptoms | What are the symptoms of Craniometaphyseal dysplasia, autosomal dominant ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal dominant? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal dominant. 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 metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of pelvic girdle bone morphology - Abnormality of the nasopharynx - Abnormality of the vertebral column - Autosomal dominant inheritance - Bony paranasal bossing - Calvarial osteosclerosis - Club-shaped distal femur - Erlenmeyer flask deformity of the femurs - Macrocephaly - Mandibular prognathia - Metaphyseal widening - Misalignment of teeth - Mixed hearing impairment - Nasal obstruction - Sclerosis of skull base - 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) TAR syndrome ? | TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cow's milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1. |
frequency | How many people are affected by SLC4A1-associated distal renal tubular acidosis ? | The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand. |
exams and tests | How to diagnose Heart Failure ? | Diagnosing Heart Failure There is not one specific test to diagnose heart failure. Because the symptoms are common for other conditions, your doctor will determine if you have heart failure by doing a detailed medical history, an examination, and several tests. The tests will identify whether you have any diseases or conditions that can cause heart failure. They will also rule out any other causes of your symptoms and determine the amount of damage to your heart. During a physical examination, you can expect your doctor to listen to your heart for abnormal sounds and listen to your lungs for a buildup of fluid. Your doctor will also look for swelling in your ankles, feet, legs, abdomen, and in the veins in your neck If your doctor determines that you have signs of heart failure, he or she may order several tests. Diagnostic Tests Tests that are given to determine heart failure include an electrocardiogram (EKG or ECG), a chest x-ray, and a BNP blood test. An EKG or ECG -- electrocardiogram -- measures the rate and regularity of your heartbeat. This test can also show if you have had a heart attack and whether the walls of your heart have thickened. A chest X-ray takes a picture of your heart and lungs. It will show whether your heart is enlarged or your lungs have fluid in them, both signs of heart failure. A BNP blood test measures the level of a hormone in your blood called BNP -- brain natriuretic peptide -- that increases in heart failure. Once these initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in the diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. Other Tests Tests that can identify the cause of heart failure include an echocardiogram, a Holter monitor, and an exercise stress test. An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity. |
symptoms | What are the symptoms of Congenital radio-ulnar synostosis ? | What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Microhydranencephaly ? | What are the signs and symptoms of Microhydranencephaly? Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms can vary but generally include: Extreme microcephaly Scalp rugae (a series of ridges) Profound developmental delay Severe intellectual disability Spasticity Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). The Human Phenotype Ontology provides the following list of signs and symptoms for Microhydranencephaly. 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) Agenesis of corpus callosum - Athetosis - Autosomal recessive inheritance - Cerebellar hypoplasia - Generalized myoclonic seizures - Hydranencephaly - Hyperreflexia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Macrotia - Microcephaly - Multiple joint contractures - Pachygyria - Prominent nasal bridge - Proptosis - Self-mutilation - Short stature - Skeletal muscle atrophy - Sloping forehead - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - 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 GM1 gangliosidosis ? | Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Within lysosomes, -galactosidase helps break down several molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for normal functioning of nerve cells in the brain. Mutations in the GLB1 gene reduce or eliminate the activity of -galactosidase. Without enough functional -galactosidase, GM1 ganglioside cannot be broken down when it is no longer needed. As a result, this substance accumulates to toxic levels in many tissues and organs, particularly in the brain. Progressive damage caused by the buildup of GM1 ganglioside leads to the destruction of nerve cells in the brain, causing many of the signs and symptoms of GM1 gangliosidosis. In general, the severity of GM1 gangliosidosis is related to the level of -galactosidase activity. Individuals with higher enzyme activity levels usually have milder signs and symptoms than those with lower activity levels because they have less accumulation of GM1 ganglioside within the body. Conditions such as GM1 gangliosidosis that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. |
information | What is (are) Birth Control ? | Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ways: - Preventing sperm from getting to the eggs. Types include condoms, diaphragms, cervical caps, and contraceptive sponges. - Keeping the woman's ovaries from releasing eggs that could be fertilized. Types include birth control pills, patches, shots, vaginal rings, and emergency contraceptive pills. - IUDs, devices which are implanted into the uterus. They can be kept in place for several years. - Sterilization, which permanently prevents a woman from getting pregnant or a man from being able to get a woman pregnant Your choice of birth control should depend on several factors. These include your health, frequency of sexual activity, number of sexual partners and desire to have children in the future. Your health care provider can help you select the best form of birth control for you. NIH: National Institute of Child Health and Human Development |
treatment | What are the treatments for Brooke-Spiegler syndrome ? | These resources address the diagnosis or management of Brooke-Spiegler syndrome: - Genetic Testing Registry: Spiegler-Brooke 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 Broken Heart Syndrome ? | The cause of broken heart syndrome isnt fully known. However, extreme emotional or physical stress is believed to play a role in causing the temporary disorder.
Although symptoms are similar to those of a heart attack, what is happening to the heart is quite different. Most heart attacks are caused by near or complete blockage of a coronary artery. In broken heart syndrome, the coronary arteries are not blocked, although blood flow may be reduced.
Potential Triggers
In most cases, broken heart syndrome occurs after an intense and upsetting emotional or physical event. Some potential triggers of broken heart syndrome are:
Emotional stressorsextreme grief, fear, or anger, for example as a result of the unexpected death of a loved one, financial or legal trouble, intense fear, domestic abuse, confrontational argument, car accident, public speaking, or even a surprise party.
Physical stressorsan asthma attack, serious illness or surgery, or exhausting physical effort.
Potential Causes
Researchers think that sudden stress releases hormones that overwhelm or stun the heart. (The term stunned is often used to indicate that the injury to the heart muscle is only temporary.) This can trigger changes in heart muscle cells or coronary blood vessels, or both. The heart becomes so weak that its left ventricle (which is the chamber that pumps blood from your heart to your body) bulges and cannot pump well, while the other parts of the heart work normally or with even more forceful contractions. As a result the heart is unable to pump properly. (For more information about the hearts pumping action and blood flow, go to the Health Topics How the Heart Works article.)
Researchers are trying to identify the precise way in which the stress hormones affect the heart. Broken heart syndrome may result from a hormone surge, coronary artery spasm, or microvascular dysfunction.
Hormone Surge
Intense stress causes large amounts of the fight or flight hormones, such as adrenaline and noradrenaline, to be released into your bloodstream. The hormones are meant to help you cope with the stress. Researchers think that the sudden surge of hormones overwhelms and stuns the heart muscle, producing symptoms similar to those of a heart attack.
Coronary Artery Spasm
Some research suggests that the extreme stress causes a temporary, sudden narrowing of one of the coronary arteries as a result of a spasm. The spasm slows or stops blood flow through the artery and starves part of the heart of oxygen-rich blood.
Microvascular Dysfunction
Another theory that is gaining traction is that the very small coronary arteries (called microvascular arteries) do not function well due to low hormone levels occurring before or after menopause. The microvascular arteries fail to provide enough oxygen-rich blood to the heart muscle. |
symptoms | What are the symptoms of Leiner disease ? | What are the signs and symptoms of Leiner disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiner disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Complement deficiency - Generalized seborrheic dermatitis - Intractable diarrhea - Recurrent infections - Recurrent meningitis - 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. |
exams and tests | How to diagnose Hypersensitivity Pneumonitis ? | To diagnose hypersensitivity pneumonitis (HP), your doctor must pinpoint the antigen that's causing the disease and its source. (An antigen is a substance that your body reacts against, such as molds, dusts, and chemicals.)
Your doctor will ask you detailed questions about:
Your current and past jobs
Your hobbies and leisure activities
The types of places where you spend time
Your exposure to damp and moldy places
Your doctor also will do a physical exam and look at test results to diagnose HP.
Physical Exam
During the physical exam, your doctor will ask about your signs and symptoms, such as coughing and weight loss. Your doctor also will look for signs of HP. For example, he or she will listen to your lungs with a stethoscope for abnormal breathing sounds. HP can cause a crackling sound when you breathe.
Your doctor also may look for signs of pulmonary fibrosis, a possible complication of chronic (ongoing) HP. Pulmonary fibrosis is a condition in which tissue deep in your lungs becomes scarred over time.
Your doctor also may check for clubbing. Clubbing is the widening and rounding of the tips of the fingers or toes. A low level of oxygen in the blood causes this condition.
Diagnostic Tests and Procedures
To help diagnose HP, your doctor may recommend or more of the following tests or procedures.
Chest X Ray or Chest Computed Tomography (CT) Scan
A chest x ray and chest CT scan create pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. These pictures can show signs of HP.
Lung Function Tests
Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs can deliver oxygen to your blood. One of these tests is spirometry (spi-ROM-eh-tre).
During this test, a technician will ask you to take a deep breath. Then, you'll blow as hard as you can into a tube connected to a small machine. The machine is called a spirometer. The machine measures how much air you breathe out. It also measures how fast you can blow air out.
Pulse Oximetry
This test measures the amount of oxygen in your blood. A small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood.
Precipitin Test
This blood test looks for antibodies (proteins) that your body creates in response to antigens. The presence of these proteins may suggest HP.
Challenge Test
During this test, you're re-exposed to the suspected antigen. Then, you'll be watched for signs and symptoms of HP.
Bronchoscopy
For bronchoscopy (bron-KOS-ko-pee), your doctor passes a thin, flexible tube through your nose (or sometimes your mouth), down your throat, and into your airways. At the tip of the tube are a light and mini-camera. This allows your doctor to see your windpipe and airways.
Your doctor may insert forceps (a device used to grab or hold things) through the tube to collect a tissue sample. You'll be given medicine to make you relaxed and sleepy during the procedure.
Bronchoalveolar Lavage
During bronchoscopy, your doctor may inject a small amount of salt water (saline) through the tube into your lungs. This method is called bronchoalveolar lavage (BRONG-ko-al-VE-o-lar lah-VAHZH).
This fluid washes the lungs and helps bring up cells from the airways and the area around the air sacs. Your doctor will look at these cells under a microscope.
Surgical Lung Biopsy
To confirm a diagnosis of HP, your doctor may do a surgical lung biopsy. Your doctor can use a biopsy to rule out other causes of symptoms and check the condition of your lungs.
For a surgical lung biopsy, your doctor takes samples of lung tissue from several places in your lungs. He or she then looks at them under a microscope. Your doctor may use one of the following methods to get lung tissue samples.
Video-assisted thoracoscopy (thor-ah-KOS-ko-pee). For this procedure, your doctor inserts a small, lighted tube with a camera (endoscope) into your chest through small cuts between your ribs.
The endoscope provides a video image of your lungs and allows your doctor to collect tissue samples. This procedure is done in a hospital. You'll be given medicine to help you sleep through the procedure.
Thoracotomy (thor-ah-KOT-o-me). For this procedure, your doctor removes a few small pieces of lung tissue through a cut in the chest wall between your ribs. Thoracotomy is done in a hospital. You'll be given medicine to help you sleep through the procedure. |
information | What is (are) Problems with Smell ? | You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of the problem? - Did I have a cold or the flu? - Did I have a head injury? - Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic? - Is this a recurring problem? - Does it come at any special time, such as during the hay fever season? When did I first become aware of the problem? Did I have a cold or the flu? Did I have a head injury? Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic? Is this a recurring problem? Does it come at any special time, such as during the hay fever season? |
symptoms | What are the symptoms of Negative rheumatoid factor polyarthritis ? | What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. 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) Autoimmune antibody positivity - 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 protein C deficiency ? | Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. Most of the mutations that cause protein C deficiency change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein C to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the number of PROC gene mutations an individual has. |
genetic changes | What are the genetic changes related to heterotaxy syndrome ? | Heterotaxy syndrome can be caused by mutations in many different genes. The proteins produced from most of these genes play roles in determining which structures should be on the right side of the body and which should be on the left, a process known as establishing left-right asymmetry. This process occurs during the earliest stages of embryonic development. Dozens of genes are probably involved in establishing left-right asymmetry; mutations in at least 20 of these genes have been identified in people with heterotaxy syndrome. In some cases, heterotaxy syndrome is caused by mutations in genes whose involvement in determining left-right asymmetry is unknown. Rarely, chromosomal changes such as insertions, deletions, duplications, and other rearrangements of genetic material have been associated with this condition. Heterotaxy syndrome can occur by itself, or it can be a feature of other genetic syndromes that have additional signs and symptoms. For example, at least 12 percent of people with a condition called primary ciliary dyskinesia have heterotaxy syndrome. In addition to abnormally positioned internal organs, primary ciliary dyskinesia is characterized by chronic respiratory tract infections and an inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia, which are microscopic, finger-like projections that stick out from the surface of cells. It appears that cilia play a critical role in establishing left-right asymmetry before birth. Studies suggest that certain factors affecting a woman during pregnancy may also contribute to the risk of heterotaxy syndrome in her child. These include diabetes mellitus; smoking; and exposure to hair dyes, cocaine, and certain laboratory chemicals. Some people with heterotaxy syndrome have no identified gene mutations or other risk factors. In these cases, the cause of the condition is unknown. |
information | What is (are) Foot Injuries and Disorders ? | Each of your feet has 26 bones, 33 joints, and more than 100 tendons, muscles, and ligaments. No wonder a lot of things can go wrong. Here are a few common problems: - Bunions - hard, painful bumps on the big toe joint - Corns and calluses - thickened skin from friction or pressure - Plantar warts - warts on the soles of your feet - Fallen arches - also called flat feet Ill-fitting shoes often cause these problems. Aging and being overweight also increase your chances of having foot problems. |
treatment | What are the treatments for Tuberous Sclerosis ? | There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Antiepileptic drugs such as vigabatrin may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended. |
research | what research (or clinical trials) is being done for Lipoid Proteinosis ? | The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to neurological diseases such as lipoid proteinosis in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as lipoid proteinosis. |
information | What is (are) Annular atrophic lichen planus ? | Annular atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular atrophic LP, specifically, affected people develop skin lesions with features of both annular LP and atrophic LP - ring-shaped, slightly raised, purple lesions with central atrophy (tissue breakdown). Although these lesions can be found anywhere on the body, they most commonly affect the trunk and legs. The exact underlying cause of annular atrophic LP is unknown. Treatment is not always necessary as some cases of annular atrophic LP resolve on their own. Mild cases that are diagnosed early can often be managed with topical steroids, while more intensive therapies may be required for severe cases. |
frequency | How many people are affected by thanatophoric dysplasia ? | This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II. |
information | What is (are) Childhood Interstitial Lung Disease ? | Childhood interstitial (in-ter-STISH-al) lung disease, or chILD, is a broad term for a group of rare lung diseases that can affect babies, children, and teens. These diseases have some similar symptoms, such as chronic cough, rapid breathing, and shortness of breath.
These diseases also harm the lungs in similar ways. For example, they damage the tissues that surround the lungs' alveoli (al-VEE-uhl-eye; air sacs) and bronchial tubes (airways). Sometimes these diseases directly damage the air sacs and airways.
The various types of chILD can decrease lung function, reduce blood oxygen levels, and disturb the breathing process.
Overview
Researchers have only begun to study, define, and understand chILD in the last decade. Currently, they don't know how many children have chILD. They also don't know how many children have each type of chILD.
Diagnosing chILD and its specific diseases is hard because chILD is rare and complex. Also, chILD is a broad term for a group of diseases with similar symptomsit's not a precise diagnosis.
Interstitial lung disease (ILD) also occurs in adults. However, the cause of ILD in adults may be different than the cause in children. Some types of chILD are similar to the adult forms of the disease. They may even have the same names as the adult forms, such as hypersensitivity pneumonitis (noo-mo-NI-tis), immunodeficiency-associated lung disease, and bronchiolitis (brong-ke-o-LI-tis) obliterans.
However, research shows that the course and outcomes of these diseases often are very different for children than for adults.
Some ILDs only occur in children. They include:
Lung growth abnormalities
Neuroendocrine (noor-o-EN-do-krin) cell hyperplasia (hi-per-PLA-ze-ah) of infancy (NEHI)
Pulmonary interstitial glycogenosis (gli-ko-JEN-eh-sis)
Developmental disorders, such as alveolar (al-VE-o-lar) capillary dysplasia
Outlook
Each form of chILD may differ in its severity and how it's treated. Thus, getting a correct diagnosis is vital for understanding and treating your child's illness.
You may want to consult a pediatric pulmonologist. This is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions. This doctor's training and experience can help him or her diagnose chILD.
The outlook for children who have chILD also depends on the specific type of disease they have. Some diseases are very severe and lead to early death. Others are chronic (long-term) diseases that parents and the child's medical team must work together to manage.
At this time, chILD has no cure. However, some children who have certain diseases, such as NEHI, may slowly improve over time.
Researchers are now starting to learn more about the causes of chILD. They're also trying to find distinct patterns and traits for the various forms of chILD. This information may help doctors better understand these diseases. |
exams and tests | How to diagnose Diabetic Kidney Disease ? | A health care provider diagnoses diabetic kidney disease based on
- a medical and family history - a physical exam - urine tests - a blood test
Medical and Family History
Taking a medical and family history is one of the first things a health care provider may do to help diagnose diabetic kidney disease. He or she will ask about the symptoms and the patients diabetes history.
Physical Exam
After taking a medical and family history, a health care provider will perform a physical exam. During a physical exam, a health care provider usually
- examines the patients body to check for changes in skin color - taps on specific areas of the patients body, checking for swelling of the feet, ankles, or lower legs
Urine Tests
Dipstick test for albumin. A dipstick test performed on a urine sample can detect the presence of albumin in the urine. A patient collects the urine sample in a special container in a health care providers office or a commercial facility. The office or facility tests the sample onsite or sends it to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when blood or protein is present in urine.
Urine albumin-to-creatinine ratio. A health care provider uses this measurement to estimate the amount of albumin passed into the urine over a 24-hour period. The patient collects a urine sample during an appointment with the health care provider. Creatinine is a waste product that is filtered in the kidneys and passed into the urine. A high urine albumin-to-creatinine ratio indicates that the kidneys are leaking large amounts of albumin into the urine. A urine albumin-to-creatinine ratio above 30 mg/g may be a sign of kidney disease.
Blood Test
A blood test involves having blood drawn at a health care providers office or a commercial facility and sending the sample to a lab for analysis. A health care provider may order a blood test to estimate how much blood the kidneys filter each minute, called the estimated glomerular filtration rate (eGFR). The results of the test indicate the following:
- eGFR of 60 or above is in the normal range - eGFR below 60 may indicate kidney damage - eGFR of 15 or below may indicate kidney failure |
frequency | How many people are affected by alveolar capillary dysplasia with misalignment of pulmonary veins ? | ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 infants with this disorder have been identified worldwide. |
symptoms | What are the symptoms of Diabetic Retinopathy ? | At first, you will see a few specks of blood, or spots, "floating" in your vision. If spots occur, see your eye care professional as soon as possible. You may need treatment before more serious bleeding or hemorrhaging occurs. Hemorrhages tend to happen more than once, often during sleep. Sometimes, the spots clear without treatment, and you will see better. However, bleeding can reoccur and cause severely blurred vision. You need to be examined by your eye care professional at the first sign of blurred vision, before more bleeding occurs. If left untreated, proliferative retinopathy can cause severe vision loss and even blindness. Also, the earlier you receive treatment, the more likely treatment will be effective. |
information | What is (are) Hyper-IgD syndrome ? | Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK). It is inherited in an autosomal recessive manner. |
symptoms | What are the symptoms of Dystonia 2, torsion, autosomal recessive ? | What are the signs and symptoms of Dystonia 2, torsion, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 2, torsion, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blepharospasm - Dysarthria - Dysphagia - Juvenile onset - Torsion dystonia - Torticollis - Tremor - 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 COL4A1-related brain small-vessel disease ? | As the name suggests, mutations in the COL4A1 gene cause COL4A1-related brain small vessel disease. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with COL4A1-related brain small-vessel disease, the vasculature in the brain weakens, which can lead to blood vessel breakage and stroke. Similar blood vessel weakness and breakage occurs in the eyes of some affected individuals. |
prevention | How to prevent Thrombocythemia and Thrombocytosis ? | You can't prevent primary thrombocythemia. However, you can take steps to reduce your risk for complications. For example, you can control many of the risk factors for blood clots, such as high blood cholesterol, high blood pressure, diabetes, and smoking.
To reduce your risk, quit smoking, adopt healthy lifestyle habits, and work with your doctor to manage your risk factors.
It's not always possible to prevent conditions that lead to secondary thrombocytosis. But, if you have routine medical care, your doctor may detect these conditions before you develop a high platelet count. |
information | What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations. Characteristic physical features of Lujan syndrome include a tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and the upper lip (philtrum); a narrow roof of the mouth (palate); crowded teeth; and a small chin (micrognathia). Almost all people with this condition have weak muscle tone (hypotonia). Additional signs and symptoms of Lujan syndrome can include abnormal speech, heart defects, and abnormalities of the genitourinary system. Many affected individuals have long fingers and toes with an unusually large range of joint movement (hyperextensibility). Seizures and abnormalities of the tissue that connects the left and right halves of the brain (corpus callosum) have also been reported in people with this condition. |
information | What is (are) Landau-Kleffner Syndrome ? | Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech. The disorder usually occurs in children between the ages of 5 and 7 years. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, childhood schizophrenia, or emotional/behavioral problems. |
inheritance | Is Pyle disease inherited ? | Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, 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 often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes. |
symptoms | What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? | What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cognitive impairment 90% Cryptorchidism 90% Hypertelorism 90% Malar flattening 90% Male pseudohermaphroditism 90% Microcephaly 90% Neurological speech impairment 90% Abnormality of the heme biosynthetic pathway 50% Abnormality of the tongue 50% Anteverted nares 50% Autism 50% Depressed nasal ridge 50% Epicanthus 50% Hypoplasia of penis 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Talipes 50% Telecanthus 50% Thick lower lip vermilion 50% Abnormality of movement 7.5% Abnormality of the kidney 7.5% Abnormality of the teeth 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Cerebral cortical atrophy 7.5% Clinodactyly of the 5th finger 7.5% Constipation 7.5% Encephalitis 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hemiplegia/hemiparesis 7.5% Limitation of joint mobility 7.5% Myopia 7.5% Nausea and vomiting 7.5% Optic atrophy 7.5% Recurrent urinary tract infections 7.5% Self-injurious behavior 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Volvulus 7.5% Abnormality of metabolism/homeostasis - Absent frontal sinuses - Cerebral atrophy - Clinodactyly - Coxa valga - Depressed nasal bridge - Gastroesophageal reflux - Hemivertebrae - Hydronephrosis - Hypochromic microcytic anemia - Hypospadias - Infantile muscular hypotonia - Intellectual disability - Kyphoscoliosis - Low-set ears - Macroglossia - Micropenis - Microtia - Perimembranous ventricular septal defect - Phenotypic variability - Posteriorly rotated ears - Postnatal growth retardation - Protruding tongue - Radial deviation of finger - Reduced alpha/beta synthesis ratio - Renal agenesis - Shawl scrotum - Short nose - Spasticity - Talipes equinovarus - Tapered finger - Umbilical hernia - U-Shaped upper lip vermilion - Widely-spaced maxillary central incisors - X-linked 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. |
symptoms | What are the symptoms of Cholesteatoma ? | What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examination, the ear drum (tympanic membrane) appears abnormal. In rare cases, a cholesteatoma may erode through the tegmen, allowing an epidural abscess to form which could lead to a more serious brain infection. |
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