Kytril

By A. Gorn. Bay Path College.

In addition generic 2 mg kytril fast delivery, REM sleep occurs inap- mares purchase kytril 2mg with amex, and frequent awakenings during the night propriately throughout the day. Diagnosis Genetic profile If a person experiences both excessive daytime In 1999, researchers identified the gene that causes sleepiness and cataplexy, a diagnosis may be made on the narcolepsy. Laboratory tests, however, can con- (the part of the brain that regulates sleep behavior) to firm a diagnosis. When this gene is polysomnogram—a test in which sleep is monitored with abnormal, cells cannot communicate properly, and electrocardiography, video, and respiratory parameters. Multiple Sleep Latency Test, which measures sleep The disorder sometimes runs in families, but most latency (onset) and how quickly REM sleep occurs, may people with narcolepsy have no relatives with the disor- be used. In heart If a diagnosis is in question, a genetic blood test can disease, several genes play a role in being susceptible to reveal the existence of certain substances in people who the disorder, but it usually does not develop without an have a tendency to develop narcolepsy. Demographics Narcolepsy is a complex disorder, and it is often mis- There has been debate over the incidence of nar- diagnosed. The known prevalence in other coun- tries varies, from one in 600 in Japan to one in 500,000 in Treatment and management Israel. The symptoms can be Signs and symptoms managed with medication or lifestyle adjustment. While the symptoms of narcolepsy usually appear Amphetamine-like stimulant drugs are often prescribed during the teens or 20s, the disease may not be diagnosed to control drowsiness and sleep attacks. Patients who do 792 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Resources PERIODICALS Mignot, E. Michelle Lee Brandt Narcolepsy causes affected individuals to suddenly fall into a deep sleep, even in the middle of an activity. Antidepressants are often effective in treating to the antidiuretic hormone (ADH), also called arginine symptoms of abnormal REM sleep. NDI involves an abnormality in the narcolepsy, researchers are hopeful that therapies can be kidney tubules which prevents the proper amount of designed to relieve the symptoms of the disorder. Narcolepsy is not a degenerative disease, and Description patients do not develop other neurologic symptoms. Within the inherited severe cases, the disorder prevents people from living a group, there are three types of NDI: X-linked, autosomal normal life, leading to depression and a loss of inde- recessive, and autosomal dominant. The thirst of one of Ninety percent of inherited NDI is X-linked, mean- the patients studied was satisfied only when five to six ing it is caused by an alteration in a gene carried on the times the normal requirement of fluid was offered. Since women have two X chromo- levels of (blood) serum sodium and chloride decreased to somes and men have only one, an X-linked recessive normal and the infant remained free from fever on this condition is expected to effect men since they do not have high fluid intake. Genetic profile Autosomal dominant NDI is the most rare of the three Genes are the blueprint for the human body that and affects both males and females. Mutations in Inherited NDI is present from birth and symptoms some genes can cause genetic disorders such as inher- usually manifest within the first several days of life. Every cell in the disorder is not diagnosed and treated early, it will cause body has 23 pairs of chromosomes, 22 pairs of which are the body to lose too much water. This dehydration can called autosomes and contain two copies of individual lead to brain damage and eventually death. Men tion, the person can live a normal life span without any have an X and a Y chromosome while women have two mental impairment. X-linked nephrogenic diabetes insipidus is caused by a defect in the vasopressin-2 recep- Acquired NDI is the most common type of the dis- tor (AVPR2) gene in the X chromosome which renders ease and can be acquired at any age. In rare instances, it linked condition, almost all persons with the disorder are can be caused by an underlying disease or disorder, such male. Females have two X chromosomes, which means as sickle cell anemia, chronic kidney failure, sarcoido- they have two copies of each gene. Males have only one sis, amyloidosis, Fanconi syndrome, and Sjögrens syn- X chromosome and one copy of each gene. Other rare causes of acquired NDI are low blood an altered AVPR2 gene, he will have NDI. If a female has levels of potassium and abnormally high blood calcium one altered gene, she will be a carrier and will be at risk levels. Pregnancy can also result in temporary acquired to pass the altered gene on to her children.

Other symptoms vary greatly among affected change (mutation) in a gene that prevents it from making individuals cheap kytril 1mg. All those affected buy discount kytril 2 mg line, however, have some a fat required by the three types of blood cells: red blood degree of red cell breakdown that results in more or less cells, white blood cells, and platelets. When the fat (glycosylphosphatidylinositol, or GPI) Contributing to anemia in people with PNH is the is missing from the outside walls of blood cells, proteins decreased production of red blood cells in the center of cannot stick to the cells and the cells cannot function nor- the bones (bone marrow). In healthy red blood cells, GPI binds proteins that missing, the bone marrow fails to produce functioning protect the cells from chemical attack. In healthy white red blood cells, white blood cells, and platelets, and the blood cells, GPI may attach to proteins that help the cells numbers of these blood cells drop dangerously low. Those affected with PNH may have frequent infec- Not only are all types of blood cells abnormal in tions because their white blood cells are decreased in PNH, but the numbers of blood cells are decreased. The number and the cells that circulate in the blood are abnor- decrease in red blood cells, coupled with their destruc- mal. Individuals with PNH may have stomach pain tion, causes anemia in people affected with PNH. KEY TERMS Diagnosis Anemia—A blood condition in which the level of hemoglobin or the number of red blood cells falls PNH and other types of blood diseases are usually below normal values. Common symptoms include diagnosed by examining a sample of bone marrow cells paleness, fatigue, and shortness of breath. Doctors obtain the sample by performing a bone marrow aspira- Bone marrow—A spongy tissue located in the hol- tion or biopsy on the individual. In PNH, the bone mar- low centers of certain bones, such as the skull and row usually looks empty because so few blood cells are hip bones. The Ham test, developed in 1938, attaches proteins to the outside walls of blood has long been the standard laboratory test for confirming cells. The Ham test is very sensitive and identifies minus- carbon dioxide away from the cells. Although the sugar water test is less Red blood cell—Hemoglobin-containing blood sensitive to low levels of abnormal red blood cells than the cells that transport oxygen from the lungs to tis- Ham test, it is positive only when the person has PNH. In the tissues, the red blood cells exchange their oxygen for carbon dioxide, which is brought The most sensitive and specific laboratory test for back to the lungs to be exhaled. In people with PNH, there are no proteins on the cell wall so the chemical does not bind and the cells appear may prescribe iron supplements to help build up the smaller than normal cells. The The effectiveness of gene therapy for PNH has not yet operation can be risky, however, so bone marrow trans- been proven in humans. The opera- tion is most successful if the healthy bone marrow is Prognosis donated by an identical twin of the affected child, but After an affected individual has been diagnosed with bone marrow from other family members can sometimes PNH, he or she usually lives for another 10 to 20 years. About 25% of people with PNH live more than 25 years If a suitable bone marrow donor cannot be found or after first being diagnosed. In a few people (about 15%), if the affected person is not strong enough to withstand a the disease disappears altogether and the person recovers bone marrow transplant, PNH can be managed by sup- spontaneously. Those affected may take drugs to pre- Most people who die from PNH do so because of vent clots from forming and to prevent red blood cells abnormal clotting. If the number of blood cells falls develop and eventually die from another disease involv- dangerously low, affected individuals may receive multi- ing red blood cells, aplastic anemia. Normally, there are two copies of each of the 23 PERIODICALS chromosomes: one from each parent. Down syndrome (trisomy 21), in which the developing ORGANIZATIONS embryo has an extra copy of chromosome 21. PO Box 613, Annapolis, MD An extra copy of chromosome 13 is not the only 21404-0613. PO Box 13, such as mispositioning (translocation), can also result 8923, New Fairfield, CT 06812-8923. There is no production of extra chromo- Paroxysmal Nocturnal Hemoglobinuria (PNH) Support Group. Patau syndrome causes serious physical and mental abnormalities including heart defects; incomplete brain Linnea E.

Additionally the HSOM prototype vectors—which were autonomously organized by the system during a training phase—are used to generate a key word list which annotate and semantically describe the node with the highest hit rate order kytril 1mg mastercard. To this end purchase 1mg kytril free shipping, the words corresponding to the five largest components of the reference vector are selected. In the top left the most prominent MeSH terms are displayed, that is, 34 articles Figure 3. The user submitted the query string “brain” and the corresponding results are highlighted by the system. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. The user has moved the focus into the target area and can now inspect the context enriched data more closely. The map immediately shows that there are several clusters of brain-related articles in the right part of the map. By selecting single neurons with the mouse, the user can selectively retrieve key words of individual containers. As can be seen from the keyword distribution, all nodes share semantically related characteristics. The two leftmost labelled nodes do not contain key words like “brain” or “neuron”, but the labelling with “cord”, “spinal”, “eeg”, and “gamma”, respectively, indicates a close relation to the selected “brain-area”. The drill-down process to the document level combines the strengths of the graphical and the textual display: After zooming-in on a promising region, the titles of documents pertaining to a particular node can be displayed by a double mouse click. Note, that due to the ordering process of the SOM algorithm these documents are typically very similar to each other—and in the sense of the clustering hypothesis therefore might all provide an answer to the same query. A further double click on a document title then displays the selected abstract on the screen. In this way, the hyperbolic self-organizing map can provide a seamless interface offering rapid overview of large document collections while allowing at the same time the drill down to single texts. Benefits for a Hospital Information System In the framework of a hospital information system, such a context enriched interactive document retrieval system might be of great benefit to the clinical personal. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Interactive Information Retrieval Towards Effective Knowledge Management 67 to Chu and Cesnik (2001) a hospital may generate up to five terabytes of data a year, where 20 to 30 percent of such data are stored as free text reports such as medical history, assessment and progress notes, surgical reports or discharge letters. Free text fields in medical records are considered of invaluable importance for medical relevance (Stein, Nadkarni, Erdos, & Miller, 2000). However, many existing informa- tion systems do not yet take advantage of the complex CDA or the even more substantial Reference Information Model—because it is a very time consuming task to transfer documents to the new standards and to fit the enormous mass of model objects to free text data. Nevertheless, these systems store valuable information—just in a format which cannot be directly analyzed by structured methods. In order to provide access by content, the aforementioned Information Retrieval methodologies can significantly contribute to facilitate these tasks: a self-organizing map creates structure and context purely on the statistical word distributions of free text and thus allows a semantic browsing of clinical documents. This in turn offers the possibility to gain a problem orientated perspective on health records stored in information systems, that is, as Lovis et al (2000) have noted: “intelligent browsing of documents, together with natural language emerging tech- niques, are regarded as key points, as it appears to be the only pertinent way to link internal knowledge of the patient to general knowledge in medicine. Currently, many case studies are published which emphasize that data mining techniques provide efficient means to detect significant patterns in medical records. Interactive OLAP tools support best practice and allow for informed real time decision-making and therefore build the solid foundation for further improvements in patient care. The next step to further broaden the knowledge base in healthcare environments will be the integration of unstructured data, predominantly free narrative text documents. The nature of this type of data will demand for new approaches to deal with the inherently vague information contained in these documents. We have shown how artificial neural networks with their ability for self-organization of non-crisp data provide an almost natural link between the hard computational world and the soft-computing of the human brain. We believe that interactive information retrieval methodologies that account for the rich context of natural language will significantly contribute to knowledge acquisition through text analysis. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Knowledge representation and retrieval using conceptual graphs and free text document self-organisation techniques. Efficient literature searching: A core skill for the practice of evidence-based medicine. Integrating query of relational and textual data in clinical databases: A case study.

As many as one- retardation in individuals with ABL is due to the disease third of people with ABL have had genetically related itself or to other effects of consanguinity quality 1mg kytril. Higher rates of consanguinity may also be responsible for other birth defects seen infre- are often seen in rare autosomal recessive disorders generic kytril 2 mg mastercard. Other diseases resulting in similar intestinal National Foundation for Jewish Genetic Diseases, Inc. As of 2000, there was no direct test of National Organization for Rare Disorders (NORD). Reduced triglyceride content in the diet is suggested if intestinal Acanthocytosis see Abetalipoproteinemia symptoms require it. Large supplemental doses of vita- min E (tocopherol) have been shown to lessen or even reverse the neurological, muscular, and retinal symptoms in many cases. Definition Occupational and physical therapy can assist with any muscular and skeletal problems that arise. Physicians Acardia is a very rare, serious malformation that that specialize in orthopedics, digestive disorders, and occurs almost exclusively in monozygous twins (twins eye disease should be involved. This condition results cialty clinics for individuals with multisystem disorders from artery to artery connections in the placenta causing a physically normal fetus to circulate blood for both itself such as ABL are available in nearly all metropolitan and a severely malformed fetus whose heart regresses or areas. Prognosis Description ABL is rare, which means there have been few indi- Acardia was first described in the sixteenth century. The Early references refer to acardia as chorioangiopagus effectiveness of vitamin supplementation and diet restric- parasiticus. It is now also called twin reversed arterial tions will vary from person to person and family to fam- perfusion sequence, or TRAP sequence. Life span may be near normal with mild to moderate disability in some, but others may have more serious and Mechanism even life-threatening complications. Arriving at the cor- Acardia is the most extreme form of twin-twin trans- rect diagnosis as early as possible is important. Twin-twin transfusion syndrome is a this is often difficult in rare conditions such as ABL. This abnormal connection MTP gene may lead to the availability of accurate carrier can cause serious complications including loss of the testing and prenatal diagnosis for some families. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 7 Acardius amorphus appears as a disorganized mass KEY TERMS of tissues containing skin, bone, cartilage, muscle, fat, and blood vessels. This type of acardiac twin is not rec- Amniocentesis—A procedure performed at 16-18 ognizable as a human fetus and contains no recognizable weeks of pregnancy in which a needle is inserted human organs. Either the fluid itself or cells from oped head with brain tissues and facial structures. This the fluid can be used for a variety of tests to obtain type of acardiac twin is associated with a high risk for information about genetic disorders and other complications in the normal twin. Dizygotic—From two zygotes, as in non-identical, This type of acardiac twin presents as an isolated head or fraternal twins. Fetus—The term used to describe a developing Genetic profile human infant from approximately the third month of pregnancy until delivery. The zygote is the first cell formed by the ences are believed to be due to abnormal blood circulation. Aneuploidy, or an abnormal number of chromo- somes, has been seen in several acardiac twins, but is rare in the normal twins. Trisomy 2, the presence of three In acardiac twin pregnancies, blood vessels abnor- copies of human chromosome 2 instead of the normal mally connect between the twins in the placenta. The pla- two copies, has been reported in the abnormal twin of centa is the important interface of blood vessels between two pregnancies complicated by TRAP sequence in dif- a mother and baby through which babies receive nutri- ferent women. Since monozy- twin with stronger blood flow to pump blood for both, gotic twins are formed from a single zygote, scientists straining the heart of this “pump” twin. This abnormal theorize that an error occurs early in cell division in only connection causes the malformed twin to receive blood one of the two groups of cells formed during this process. Acardia is believed to complicate 1% of monozygotic twin preg- The acardiac twin nancies. Monozygotic twin- The acardiac twin is severely malformed and may be ning in higher order pregnancies are more common in incorrectly referred to as a tumor. In 1902, a physician pregnancies conceived with in vitro fertilization (IVF), named Das established four categories of acardiac twins hence increased risk for TRAP sequence is also associ- based on their physical appearance.