By V. Grobock. Aurora University.

For example buy kamagra soft 100mg without a prescription erectile dysfunction patanjali medicine, it is unlikely that two unrelated indi- bility complex consists of more than 70 genes safe 100 mg kamagra soft erectile dysfunction viagra does not work, classified into class I, II, and III MHC. There are multiple alleles, viduals of African ancestry would have matched HLA or forms, of each HLA gene. Conversely, populations that have been isolated as proteins on the surface of various cells in a co-domi- due to geography, cultural practices, and other historical nant manner. This diversity is important in maintaining influences may display a less diverse pool of HLA types, an effective system of specific immunity. Altogether, the making it more likely for two unrelated individuals to be MHC genes span a region that is four million base pairs HLA-matched. Although this is a large region, 99% of the time these closely-linked genes are transmitted to the next Testing generation as a unit of MHC alleles on each chromosome Organ and tissue transplantation 6. Most commonly, HLA typing is used to Class I MHC genes include HLA-A, HLA-B, and establish if an organ or tissue donor is appropriately HLA-C. In the special case of bone marrow transplantation, the risk is for graft-versus- HLA disease associations host disease (GVHD), as opposed to tissue rejection. As advances occur in transplantation Hemochromatosis A3 6–20 medicine, HLA typing for transplantation occurs with Lupus DR3 1–3 increasing frequency and in various settings. For example, a patient with DR4 is three to six times more likely to have rheumatoid arthritis and five to seven times are thought to be autoimmune in nature. Autoimmune more likely to develop type 1 diabetes than an individual without the DR4 allele. The basis of the HLA association is not well understood, although there are some hypotheses. Most autoimmune diseases are charac- terized by the expression of class II MHC on cells of the Parentage body that do not normally express these proteins. This Among other tests, HLA typing can sometimes be may confuse the killer T-cells, which respond inappropri- used to determine parentage, most commonly pater- ately by attacking these cells. Whatever HLA-typing can provide valuable DNA-based evi- the underlying mechanism, certain HLA-types are known dence contributing to the determination of identity in factors that increase the relative risk for developing spe- criminal cases. Additionally, it is a technology that has carry the HLA B-27 allele have a relative risk of 77–90 been applied internationally in the human-rights arena. The period under the dictatorship was marked by the murder and disappearance of thousands who were one in the general population. HLA-typing was one tool used In addition to autoimmune disease, HLA-type less to determine non-parentage and return children to their commonly plays a role in susceptibility to other diseases, biological families. Conversely, some HLA-types confer a Anthropologic studies protective advantage for certain types of infectious dis- ease. In addition, there are rare immune deficiency dis- HLA-typing has proved to be an invaluable tool in eases that result from inherited mutations of the genes of the study of the evolutionary origins of human popula- components of the major histocompatibility complex. This information, in turn, contributes to an under- GALE ENCYCLOPEDIA OF GENETIC DISORDERS 699 standing of cultural and linguistic relationships and prac- perature (i. Research has identified a num- Resources ber of genetic regions that may be linked to an increased BOOKS MH susceptibility. The PERIODICALS patient himself became very ill and developed a high tem- Diamond, J. Alfred Benzon ple with this condition often rapidly develop a very high Symposium. The high death rate in the 1960s occurred because Hematotherapy 5 (1996): 295–300. MH can be thought of as a chain reac- Male turner syndrome see Noonan tion that is triggered when a person with MH susceptibil- syndrome ity is exposed to specific drugs commonly used for anesthesia and muscle relaxation. Malignant fever see Malignant hyperthermia Triggering drugs that may lead to malignant hyper- thermia include: Malignant hyperpyrexia see Malignant • halothane hyperthermia • enflurane • isoflurane • sevoflurane IMalignant hyperthermia • desflurane Definition • methoxyflurane Malignant hyperthermia (MH) is a condition that • ether causes a number of physical changes to occur among • succinylcholine genetically susceptible individuals when they are exposed to a particular muscle relaxant or certain types of Once an MH susceptible person is exposed to one or medications used for anesthesia. The changes may more of these anesthesia drugs, they can present with a include increased rate of breathing, increased heart rate, variety of signs.

In this syndrome buy kamagra soft 100 mg low cost erectile dysfunction drugs from himalaya, some parts of the brain are formed excessive fluid in the spinal cord (syringomyelia) purchase kamagra soft 100 mg with amex erectile dysfunction statistics canada, but abnormally. Malformations may occur in the lower por- many people with Arnold-Chiari malformations do not tion of the brain (cerebellum) or in the brain stem. There has Cerebrospinal fluid—Fluid that circulates through- not yet been a study that shows whether or not this dis- out the cerebral ventricles and around the spinal order is inherited, but there are reports of several fami- cord within the spinal canal. One hypothesis is that the base of the Hydrocephalus—The excess accumulation of skull is too small, forcing the cerebellum downward. The overgrowth pushes the cerebellum downward Magnetic Resonance Imaging (MRI)—A technique into the spinal canal. As of 2001, Myelomeningocele—A sac that protrudes through there is no data that shows the incidence of Arnold-Chiari an abnormal opening in the spinal column. Arnold-Chiari malformations are the Posterior fossa—Area at the base of the skull most common type of malformation of the cervico- attached to the spinal cord. About one percent of live newborns have a mal- formation in the cervico-medullary junction. Signs and symptoms Some people with Arnold-Chiari I malformations have no symptoms. Typically, with an Arnold-Chiari I People with Arnold-Chiari malformations may have malformation symptoms appear as the person reaches the visual problems, including blurred vision, double vision, third or fourth decade of life. The symptoms may be vague or Diagnosis they may resemble symptoms of other medical problems, A Arnold-Chiari malformation is diagnosed with so diagnosis may be delayed. An MRI uses mag- One of the most common symptoms of Arnold- netism and radio waves to produce a picture of the brain Chiari malformations is a headache. The headache gen- and show the crowding of the space between the brain erally begins in the neck or base of the skull and may and spinal cord that occurs with Arnold-Chiari malfor- radiate through the back of the head. In addition to an MRI, patients will also have a or bending forward may bring on these headaches. Treatment and management There may be pain in the neck or upper arm with The recommended treatment for an Arnold-Chiari I Arnold-Chiari malformations. Patients often report more malformation is surgery to relieve the pressure on the pain on one side, rather than equal pain on both sides. During the surgery, the surgeon removes There may also be weakness in the arm or hand. This enlarges may also report tingling, burning, numbness, or pins and and decompresses the posterior fossa. If they find that brain tissue common complaint linked with Arnold-Chiari malforma- is blocking the flow of cerebrospinal fluid, they will tions is hoarseness. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 103 Downward displacement and hypoplasia of cerebellum Obliteration of cisterna magna Normal Affected A characteristic change that occurs in patients with Arnnold-Chiari syndrome, type II, is the downward positioning of the cerebellum. Full recovery from surgery congenita may take several months, during that time, patients may Definition continue to experience some of the symptoms associated with Arnold-Chiari malformations. Prognosis for Arnold- Arthrogryposis multiplex congenita (AMC) is a term used to describe the presence of two or more (multiplex) Chiari II malformations depends on the severity of the joint contractures (arthrogryposis) present at birth (con- myelomeningocele and will be equivalent to that of spina genita). PO Box Four of these are syndromes that include AMC as a set of 8923, New Fairfield, CT 06812-8923. Arteriohepatic dysplasia (AHD) see Alagille • Type 2 DA: down slanting of the opening between the syndrome upper and lower eyelids (palpebral fissures), a small 104 GALE ENCYCLOPEDIA OF GENETIC DISORDERS mouth with pursed lips and malformations of the nose that cause a whistling appearance upon breathing, a cur- KEY TERMS vature of the spine (scoliosis), and some instances of mild developmental retardation. Type 2b DA, is charac- Amniotic fluid—The fluid which surrounds a terized by those characteristics of type 2 DA accompa- developing baby during pregnancy. Cell—The smallest living units of the body which • Type 5 DA: contractures of the arms and legs, limited group together to form tissues and help the body eye movement, deep set eyes, and abnormal coloring of perform specific functions. Contracture—A tightening of muscles that pre- vents normal movement of the associated limb or • Type 6 DA: camptodactyly, an abnormally small head other body part. Distal arthrogryposis—A disorder characterized by contractions of the muscles in the hands. Flexion creases—The lines present on the palms of the hands and the soles of the feet from normal • Type 8 DA: contractures of the wrist and/or ankles, bending of these body parts. Palpebral fissures—The opening between the The four syndromes that include arthrogryposis as a upper and lower eyelids.

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This final case sought to apply a mix of approaches within one case intervention to fine tune the overall method cheap kamagra soft 100 mg without prescription erectile dysfunction and diabetes leaflet, addressing the issues raised in cases 1-4 kamagra soft 100 mg low cost erectile dysfunction caused by high blood pressure medication. Critical Systems Heuristics (CSH) was chosen for its ability to deal with power, Open Space (OS) for its open, collaborative, unstructured qualities, and Interactive Planning (IP) to address a particular need within the information management of the project. CSH proved hugely valuable in surfacing issues of power and coercion, but less adept at dealing with them. OS seemed to work well with those organisations which chose to take part, but two organisations withdrew! Interactive Planning did its job well, but was a fairly tightly constrained part of the project. Endnote • Barfordshire is a pseudonym, and represents two adjoining counties containing two police, two fire and one ambulance service. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. David Johnson, University of Kentucky, USA Abstract The Cancer Information Service is a knowledge management organization, charged with delivering information to the public concerning cancer. This chapter describes how societal trends in consumer/client information behavior impact clinical knowledge management. It then details how the CIS is organized to serve clients and how it can interface with clinical practice by providing referral, by enhancing health literacy, by providing a second opinion, and by giving crucial background, assurance to clients from neutral third party. The CIS serves as a critical knowledge broker, synthesizing and translating information for clients before, during, and after their interactions with clinical practices; thus enabling health professionals to focus on their unique functions. Introduction The Cancer Information Service (CIS) is essentially a knowledge management (KM) organization, manifestly charged with delivering up-to-date information to the public Copyright © 2005, Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Organizing for Knowledge Management 235 related to scientific advances concerning cancer. Its latent purpose, increasingly important in a consumer driven medical environment, is to insure the rapid diffusion of state-of-the-art medical care. It is an award-winning national information and education network, which has been the voice of the National Cancer Institute (NCI) for more than 30 years in the US. While the CIS has extensive outreach programs dedicated to reaching the medically underserved, it is probably best known for its telephone service that has a widely available 800 number (1-800-4-CANCER). We will use the CIS as an exemplar in this chapter of issues related to a national information infrastructure that supports clinical knowledge management. Because of the critical role of broader societal trends we will turn to a discussion of them before describing in more detail the basic services and organizational structure of the CIS and its potential interfaces with clinical KM. Many health organizations have realized that there are strategic advantages, especially in enhancing quality, maintaining market share, and developing innovations, in promoting information technologies. Improving information management, associated analytic skills, and knowledge utilization should be a top priority of clinical practice (Johnson, 1997). It has become commonplace for almost all hospitals and managed care providers to have very active information programs for their clients allowing those in clinical settings to concentrate on their central, unique missions. Government information providers can also act as information services providing knowledge before, during, and after client interactions with clinical organiza- tions. Indeed, the CIS focuses on the classic KM functions of retrieving and applying knowledge, combining it, and finally distributing/selling it. How do societal trends in consumer/client information behavior impact clinical KM? For client it acts as synthesizer, translator who can relieve clinical settings of this task b. Through client it directly acts to disseminate information to improve practice Copyright © 2005, Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. It is strongly related to information technology, organizational learning, intellectual capital, adaptive change, identification of informa- tion needs, development of information products, and decision support (Choo, 1998; Fouche, 1999).

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However purchase 100mg kamagra soft with visa erectile dysfunction treatment dublin, daily caffeine consumption with a rebound phenomenon is one of the leading causes of frequent and refractory headaches discount 100 mg kamagra soft mastercard erectile dysfunction treatment costs. Guarana and all other caffeine- containing foods, drinks and medications should be avoided in patients with frequent headaches. Anecdotal reports suggest that ingestion of ginger (Zingiber officinale), ginkgo (Ginkgo biloba) or valerian root (Valeriana officinalis), all of which are well tolerated, may help some patients with headaches. Aromatherapy may not appear so far fetched if we consider how much of our brain is devoted to olfaction and that strong odors can almost instantly induce a migraine. A doubleblind study of healthy volunteers showed that an external application of peppermint extract raised the pain threshold and had musclerelaxing and mentally relaxing effect, while eucalyptus had a calming and relaxing effect and improved 31 cognitive performance without an analgesic effect. A study performed by the same group of researchers, using peppermint oil for tension headaches, showed positive 32 results. These studies give some scientific support to a variety of topical products being promoted for the treatment of headaches. Homeopathy is based on an unproved concept of using infinitesimally small amounts of substances which in large amounts can induce symptoms that are being treated. Since Complementary therapies in neurology 282 the treatment is extremely benign and relatively inexpensive it can be tried by patients who believe that it may help. Combination products The overall efficacy of supplements in clinical trials, while significantly higher than that of placebo, is fairly modest. This can be due to the fact that some patients respond well, while others do not respond at all. Combining several supplements may increase the chance that one of the ingredients will help, and it is possible that they have a synergistic ® ® effect. MigraHealth and MigreLief are products that combine 300 mg of magnesium, 400 mg of riboflavin and 100 mg of feverfew. TENSION-TYPE HEADACHES 33 Biofeedback is one of the most effective treatments for tension as it is for migraine headaches. Meditation, yoga and other mental exercises can help, but biofeedback is a more direct and a most time-efficient approach aimed at eliminating headaches. Well- trained staff and patient compliance with home exercises are essential for achieving a high success rate. Follow-up studies indicate up to 80–90% improvement 5 years after 4 completion of a biofeedback course. Children can learn to rid themselves of headaches in as few as three to four sessions. Acupuncture has a solid scientific basis confirmed in animal studies, but lacks the proof of large clinical trials. Acupuncture can stop an acute attack of tension-type headache or with a series of treatments relieve a chronic one. Regular aerobic exercise is an excellent way to reduce adverse effects of stress on the body and it usually prevents headaches. CERVICOGENIC HEADACHES Older patients Cervicogenic headaches are more common in older patients and are usually due to osteoarthritic changes in the cervical spine. Pain described as radiating from the neck or occipital area suggests this diagnosis. Pain of cervical spine origin, however, can sometimes be felt in the front of the head. Decreased sensation over the occipital area, often on one side, can accompany occipital neuralgia. Neck muscles are tender, frequently in spasm, and their movement can aggravate the pain. In many patients, immobilization by a soft cervical collar during the night is sufficient to stop the headaches. More often, a combination of a non-steroidal anti-inflammatory drug with a cervical collar and regular isometric neck exercises will provide relief. Local heat application, transcutaneous electrical nerve stimulation (TENS) and acupuncture may be effective. Headache 283 Whiplash injuries Another frequent cause of cervicogenic headaches is a whiplash injury commonly sustained in car accidents. Treatment should include a soft cervical collar, which the patient wears only at night. Wearing the collar during the day for any length of time may cause atrophy of the neck muscles, which may in turn delay the recovery.

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Resources IBeals syndrome ORGANIZATIONS Definition Battens Disease Support and Research Association cheap kamagra soft 100mg online erectile dysfunction therapy. Individuals diagnosed with Beals syndrome usually National Organization for Rare Disorders (NORD) buy discount kamagra soft 100mg erectile dysfunction treatment saudi arabia. PO Box have long, thin, fingers and toes that cannot be straight- 8923, New Fairfield, CT 06812-8923. Genes are units of hereditary material passed Amniocentesis—A procedure performed at 16-18 from a parent to a child through the egg and sperm. Most draw out a small sample of the amniotic fluid from genes occur in pairs: one copy of each pair is inherited around the baby. Either the fluid itself or cells from from the egg cell produced by the mother and the other the fluid can be used for a variety of tests to obtain copy of each pair comes from the sperm cell of the father. One of these genes (called FBN2) tells the body how to make fibrillin-2, a specific type of protein. Proteins are Chromosome—A microscopic thread-like struc- substances made in the body that consist of chemicals ture found within each cell of the body and con- called amino acids. It is made up of vari- Changes in either the total number of chromo- ous components, including elastic-like fibers, and fib- somes or their shape and size (structure) may lead rillin-2 is thought to play a role in ensuring that the to physical or mental abnormalities. People with Beals syn- lage, bone, fat, tissue underlying skin, and tissues drome have a mutation in one copy of their FBN2 gene. Contracture—A tightening of muscles that pre- vents normal movement of the associated limb or Beals syndrome is inherited as a dominant condition. The precise function of fibrillin- in the FBN2 gene that causes Beals syndrome can be 2 is not known. Individuals with Beals syndrome have a 50% chance in Kyphosis—An abnormal outward curvature of the each pregnancy to have a child with Beals syndrome. Mitral valve prolapse—A heart defect in which Sometimes Beals syndrome cannot be traced back to one of the valves of the heart (which normally a parent with the condition. This means prolapse may be detected as a heart murmur but that some unknown event has caused the FBN2 gene there are usually no symptoms. If material that may alter a trait or characteristic of fertilization occurs, the resulting individual will have an individual, or manifest as disease, and can be Beals syndrome. Beals syndrome affects males and females of all eth- Scoliosis—An abnormal, side-to-side curvature of nic groups. The gene responsible for making fibrillin is called FBN2 Besides the general appearance displayed by persons and it is located on chromosome 5. Any mutation with Beals syndrome (tall and thin, contractures, with (change) occurring in the FBN2 gene results in Beals typical crumpled ear), symptoms of the disorder vary syndrome. Sometimes, 142 GALE ENCYCLOPEDIA OF GENETIC DISORDERS arms are disproportionately long for the height of the childhood to increase joint mobility and to lessen the person. The contractures have been chin, protruding forehead, and a high arch in the roof of known to spontaneously improve, with surgery some- the mouth (palate). An abnormal bending or twisting of the spine The abnormal curvature of the spine tends to worsen (kyphosis/scoliosis) is seen in about half of individuals with time. A bone specialist should be consulted for diagnosed with Beals syndrome and can occur in early advice on the appropriate treatment. This bending and twisting of the spine tends to may require a back brace and/or surgery to correct the worsen over time. A heart specialist should be consulted because some Decreased muscle bulk, especially in the lower legs, is individuals with Beals syndrome have been known to also a common sign of Beals syndrome. Usually, an ultrasound of the heart is Less common symptoms of Beals syndrome include taken to assess whether there are any abnormalities. The most frequent heart problem Medications may be used to treat some types of heart involves one of the heart valves (mitral valve prolapse) problems, if any. An eye specialist should also be con- and may necessitate medication prior to dental or other sulted because of the possibility of eye problems such as surgeries so as to prevent infection. This condition usually requires may benefit from genetic counseling for information on medication to prevent further enlargement or rarely, sur- the condition and recurrence risks for future pregnancies. A small number of individuals with Beals syndrome may also be nearsighted and require eye glasses.

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