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For example buy zantac 150mg low price gastritis diet ŕáâ, patients who receive two “severe” PKU Recessive—Genetic trait expressed only when mutations from their parents can potentially develop present on both members of a pair of chromo- more serious symptoms than people who possess a com- somes cheap 150mg zantac with mastercard severe erosive gastritis diet, one inherited from each parent. To further complicate the genetic picture of PKU, 920 GALE ENCYCLOPEDIA OF GENETIC DISORDERS other types of genes have been identified which seem to be responsible for the abnormal processing of phenylala- nine in brain tissue. These abnormalities add to the sever- ity of PKU symptoms experienced by patients who inherit these genes. In more detail, the association of multiple types of genes with a single condition, such as PKU, is referred to as molecular heterogeneity. Demographics One in 50 individuals in the United States have inherited a gene for PKU. Studies indicate that the incidence of this disease in Caucasian and Native American populations is higher than in African- American, Hispanic, and Asian populations. Signs and symptoms Untreated PKU patients develop a broad range of symptoms related to severely impaired cognitive func- tion, sometimes referred to as mental retardation. Other symptoms can include extreme patterns of behavior, delayed speech development, seizures, a characteristic body odor, and light body pigmentation. The light pig- mentation is due to a lack of melanin, which normally colors the hair, skin, and eyes. Melanin is made from the amino acid tyrosine, which is lacking in untreated cases of PKU. Physiologically, PKU patients show high levels of phenylalanine and low levels of tyrosine in the blood. Babies do not show any visible symptoms of the disease A technician is performing a test to screen for PKU. Diagnosis elevated phenylalanine levels may be caused by some medical condition other than PKU. Another, more accurate test procedure for procedure is referred to as the Guthrie test (Guthrie bac- PKU measures the ratio (comparison) of the amount of terial inhibition assay). In this test, PKU is confirmed by phenylalanine to the amount of tyrosine in the blood. PKU testing sis and genotype determination) can actually identify the was introduced in the early 1960s and is the largest specific types of PAH gene mutations inherited by PKU genetic screening program in the United States. Early diagnosis is criti- various mutations affect the ability of patients to process cal. This information can help doctors develop develop normally and avoid the complications of PKU. If the initial PKU test pro- duces a positive result, then follow-up tests are per- The severity of the PKU symptoms experienced by formed to confirm the diagnosis and to determine if the people with this disease is determined by both lifestyle GALE ENCYCLOPEDIA OF GENETIC DISORDERS 921 and genetic factors. In the early 1950s, researchers first health professionals recommend adding time released demonstrated that phenylalanine-restricted diets could tyrosine that can provide a more constant supply of this eliminate most of the typical PKU symptoms—except for amino acid to the body. Today, dietary therapy (also called patients show signs of learning disabilities even with a nutrition therapy) is the most common form of treatment special diet containing extra tyrosine. PKU patients who receive early and suggest that these patients may not be able to process consistent dietary therapy can develop fairly normal tyrosine normally. By comparison, untreated PKU patients ing as well as healthy and nutritious is a constant chal- generally have IQ scores below 50. Many patients with PKU, especially teenagers, Infants with PKU should be put on a specialized diet find it difficult to stick to the relatively bland PKU diet as soon as they are diagnosed to avoid progressive brain for extended periods of time. Some older patients decide damage and other problems caused by an accumulation to go off their diet plan simply because they feel healthy. A PKU diet helps patients However, many patients who abandon careful nutritional maintain very low blood levels of phenylalanine by management develop cognitive problems, such as diffi- restricting the intake of natural foods that contain this culties remembering, maintaining focus, and paying amino acid. Special PKU dietary mixtures or formulas are all patients with PKU should adhere to a strictly con- usually obtained from medical clinics or pharmacies. One promising line of PKU research involves the This means that it has to be obtained from food because synthesis (manufacturing) of a new type of enzyme that the body cannot produce this substance on its own. This medication would be taken orally and could small amounts of phenylalanine and higher quantities of prevent the absorption of digested phenylalanine into the other amino acids, including tyrosine. In general, medical researchers express concern about the great variation in treatment programs currently In addition, PKU diets include all the nutrients nor- available to PKU patients around the world. They have mally required for good health and normal growth, such highlighted the urgent need for new, consistent interna- as carbohydrates, fats, vitamins, and minerals.

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Management science: Modeling buy 150mg zantac with amex gastritis diet ęčíî, analysis and interpretation cheap 300mg zantac overnight delivery chronic superficial gastritis definition, Cincinnati, OH: South-Western. NeoGanesh: A working system for the automated control of assisted ventilation in ICUs. Effect of clinical guidelines on a medical practice: A systematic review of rigourous evaluations. Effects of computer-based clinical decision support systems on physician performance and patient outcomes: a systematic review. Effects of computer based clinical decision support systems on clinician performance and patient outcome. Computerized decision support based on a clinical practice guideline improves compliance with care standards. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Open clinical knowledge management for medical care - Guideline modelling methods and technologies. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Exchange and Sharing of Caller Information 219 ChapterXII Feasibilityof Joint W orking in the ExchangeandSharing of CallerInformation BetweenAmbulance, Fire and Police Services of Barfordshire Steve Clarke, The University of Hull, UK Brian Lehaney, Coventry University, UK Huw Evans, University of Hull, UK Abstract This was a practical intervention in the UK, the objective of which was to undertake an examination of the current arrangements between Barfordshire Fire, Police and Ambulance Services for the sharing and exchange of caller information, taking into account technological potential and constraints, organisational issues, and geographical factors. The initial event was an open space session followed by later sessions exploring information technology Copyright © 2005, Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. For these two later events, interactive planning and critical systems heuristics were used. The most important outcome was that, whilst the extent to which the five organisations involved shared information and knowledge was very variable, there were no perceived barriers to this happening. Such sharing, despite considerable structural and cultural barriers, was seen to be feasible both organisationally and technically. The study further highlighted a need to more closely integrate operational and strategic planning in this area and to make more explicit use of known and tested methodologies to better enable participative dialogue. Introduction This chapter is based on a study into the feasibility of sharing caller information undertaken by the authors during 2000/2001. It involved Barfordshire Ambulance and Paramedic Service NHS Trust, Fire and Rescue Service, and Police Service, all in the UK, as participants. Whilst it might be construed that the only “healthcare group” included was the Ambulance and Paramedic Service, our study indicated that much of the work of all emergency services falls into or is related to healthcare. For example, fire crews and police frequently act as “first responders” to accidents in which they give support to ambulance and paramedic staff. Fire and police officers receive first aid training, and in some parts of the UK police are beginning to be trained to use defibrillators. The boundary between these three services as regards issues of healthcare is becoming, it would seem, ever more blurred. However, in practice, the participation of the Fire and Rescue Service was restricted to mostly Principal Officer level, and the project team has augmented information from that source by visits to similar organisations and IT suppliers, and by the collection of secondary data. There were good reasons for this lower level of involvement on the part of the Fire service, and these will be addressed later in the chapter. Further, the outcome of the May 2000 Home Office Report (The Future of Fire Service Control Rooms and Communications in England and Wales, HM Fire Service Inspec- torate, 2000), which came in the middle of the study, marked the effective withdrawal of Barfordshire Fire and Rescue Service from operational involvement in the study. Specification of the Study The objective, agreed between the consultants and a project board representing the emergency services, was to undertake an examination of the current arrangements between Barfordshire Fire, Police and Ambulance Services for the sharing and exchange of caller information. Specifically, we were charged with the task of exploring the feasibility of enhancing sharing and exchange of caller information between the above, taking into account technological potential and constraints; organisational issues; and Copyright © 2005, Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. In fact, the study embraced basic data storage, information retrieval, and the use and sharing of knowledge bases which had evolved in each of the organisations: in many ways, the knowledge issues proved to be the most interesting and challenging.

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Definition Many nerve cells have long cheap 150 mg zantac gastritis diet gastritis symptoms, wire-like axons that are Phenylketonuria (PKU) can be defined as a rare covered by an insulating layer called the myelin sheath zantac 300mg discount diet lambung gastritis. PKU is the most serious form of a class of nine levels in the blood and brain can produce nerve cells diseases referred to as “hyperphenylalaninemia,” all of with abnormal axons and dendrites, and cause imperfec- which involve above normal (elevated) levels of pheny- tions in the myelin sheath referred to as hypomyelination lalanine in the blood. This loss of myelin can “short circuit” PKU, mental retardation, is the result of consuming nerve impulses (messages) and interrupt cell communi- foods that contain the amino acid phenylalanine, which is cation. It patients who have not maintained adequate dietary con- is the most common genetic disease involving amino acid trol. PKU is incurable, but early, effective treat- PKU can also affect the production of one of the ment can prevent the development of serious mental inca- major neurotransmitters in the brain, called dopamine. PKU patients who do not consume enough tyrosine in Description their diet cannot produce sufficient amounts of dopamine. This is the only Some preliminary research suggests that nerve cells role of PAH in the body. A lack of PAH results in the of PKU patients also have difficulty absorbing tyrosine. Above normal who receive sufficient dietary tyrosine still experience levels of phenylalanine are toxic to the cells that make up some form of learning disability. Teratogens are any IQ (intelligence quotient) tests provide a measure of substance or organism that can cause birth disorders in a cognitive function. They generally very large molecules composed of strings of may require special tutoring and need to repeat some of smaller building blocks or molecules called amino acids. The body grams may experience problems with typical academic breaks down proteins from food into individual amino tasks such as math, reading, and spelling. Ten years of age seems to be an impor- sues, and are the key components of enzymes, antibodies, tant milestone for PKU patients. PKU and the human nervous system People with PKU tend to avoid contact with others, The extensive network of nerves in the brain and the appear anxious, and show signs of depression. KEY TERMS It is also interesting to note that people with PKU are less likely to display such habits as lying, teasing, and active Amino acid—Organic compounds that form the disobedience. There are 20 types of research findings are still quite preliminary and more amino acids (eight are “essential amino acids” extensive research is needed to clearly show how abnor- which the body cannot make and must therefore mal phenylalanine levels in the blood and brain might be obtained from food). Genetic profile Enzyme—A protein that catalyzes a biochemical reaction or change without changing its own PKU symptoms are caused by alterations or muta- structure or function. Mutations in the PAH gene prevent the liver from producing ade- Gene—A building block of inheritance, which quate levels of the PAH enzyme needed to break down contains the instructions for the production of a phenylalanine. The PAH gene and its PKU mutations are particular protein, and is made up of a molecular found on chromosome 12 in the human genome. Each gene is detail, PKU mutations can involve many different types found on a precise location on a chromosome. The term autosomal means that the gene for inheritance and expression of a genetic mutation. A recessive genetic trait, such as PKU, is one true or chronological age and multiplies that ratio that is expressed—or shows up—only when two copies by 100. A person with one normal and one PKU gene is Metabolism—The total combination of all of the called a carrier. A carrier does not display any symptoms chemical processes that occur within cells and tis- of the disease because their liver produces normal quan- sues of a living body. However, PKU carriers can Mutation—A permanent change in the genetic pass the PKU genetic mutation onto their children. Two material that may alter a trait or characteristic of carrier parents have a 25% chance of producing a baby an individual, or manifest as disease, and can be with PKU symptoms, and a 50% chance having a baby transmitted to offspring. Although PKU conforms to these basic genetic patterns of inheritance, the actual Myelin—A fatty sheath surrounding nerves in the expression, or phenotype, of the disease is not strictly an peripheral nervous system, which help them con- “either/or” situation. Although some PKU Nervous system—The complete network of mutations cause rather mild forms of the disease, others nerves, sense organs, and brain in the body. The more severe the PKU mutation, the Phenylalanine—An essential amino acid that must greater the effect on cognitive development and perform- be obtained from food since the human body can- ance (mental ability). Also, it must be remembered that human cells con- Protein—Important building blocks of the body, tain two copies of each type of gene.

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As mentioned buy zantac 300 mg amex gastritis symptoms vs gallbladder, in a Phase I trial that directly compared retrovirus and adenovirus delivery buy zantac 150mg on line gastritis diet ice cream, the adenovirus group showed statistically signif- icant improved survival along with dose-limiting inflammatory side effects. A small Phase I trial demonstrated MRI evidence of tumor regression after transfection with HSV-TK and subsequent treatment with gancyclovir, despite transfection of only a small cluster of cells and variable expres- sion of the HSV-TK gene. Despite limited clinical success, gene therapy is now a tenable goal and will very possibly become a standard part of multimodal therapy for patients with HGGs in the future. The past decade has provided major conceptual and technological advances in brain tumor biology and molecular genetics; the years to come will provide many new breakthroughs. This vigorous area of basic science research has already been translated into clinical trials (http://clinicaltrials. The effectiveness of some chemotherapeutic agents against gliomas in vitro has been recognized for many years, but the BBB minimizes the amount of drug that penetrates tumors when administered systemically, even with highly lipophilic nitrosureas. This circumstance led to many attempts to treat brain tumors with intratumoral or local injections of methotrexate or nitrosureas in the 1960s and 1970s, all with minimal beneficial responses. These agents include traditional chemotherapies, molecular therapies, targeted toxins, viruses, liposomal–DNA complexes, viral packaging cells, stem cells, and others. To allow brain tumor patients to benefit from these exciting new developments, a method to deliver therapeutic agents to the brain in a safe and effective manner must be developed. It is possible that this stumbling block to progress in the treatment of HGGs will be overcome by promising developments in CED. These injections rely on diffusion of the delivered agent to reach brain tissue away from the injected site. Unfortunately, multiple studies demonstrated that diffusion of agents in the brain is extremely limited, particularly with high molecular weight or polar molecules. A more feasible approach is to use fewer catheters and increase the volume of diffusion through each catheter using CED. CED uses sustained intracerebral infusion to induce a convective interstitial fluid current that has the potential to homogeneously distribute even large molecules great distances within the brain by displacing interstitial fluid. Although a few studies have been conducted using CED in humans,142 no data are available on the actual distribution of agents delivered in the human brain via this method. Data recently submitted for publication demonstrate distribution of at least 10% of the injected concentration of a macromolecule within a nearly spherical radius over 4 cm from the catheter tip throughout the gray and white matter sur- rounding a tumor resection cavity (D. In addition to this encouraging data on distribution of agents in the human brain using CED, two clinical trials demonstrated the efficacy of CED in treating human brain tumor patients. Although these results are encouraging, several limiting factors remain as obsta- cles to the use of CED in the treatment of HGG patients. First, although a distribution of agent 4 cm from the catheter tip is encouraging, the technique still requires infusion via multiple catheters and careful optimization and planning to deliver therapeutic agent to the region surrounding a tumor or its resection cavity. Second, tumors clearly alter the fluid dynamics in the brain and the effect of this alteration on CED is poorly understood. Despite these limitations, further studies aimed at optimizing catheter design and infusion parameters should identify modifications capable of effectively addressing these issues now that the potential utility of this approach has been established in humans. A targeted toxin is attached to a receptor ligand; an immunotoxin consists of a toxin attached to an antibody that recognizes a receptor. In both cases, receptors selected for targeting are over-expressed on tumor cells (for simplicity, this chapter will use the term “targeted toxin” in reference to both moieties). Targeted toxins allow targeted delivery of potent toxins to tumors with relative sparing of normal tis- sue. Such toxins have at least two important advantages over most chemotherapeutic agents: (1) they are far more potent, while most © 2005 by CRC Press LLC chemotherapies require >104 molecules to kill a single tumor cell, many toxins require only one,133 and (2) they are active against hypoxic and nondividing cells, making them potentially effective against tumors that are resistant to chemotherapy and radiation. Critical to the success of targeted toxin therapy is the identifi- cation of a receptor that is ubiquitously highly expressed on the tumor but not on surrounding tissue. Clinical trials using targeted toxin therapy have targeted interleukin-2 receptors in hemato- logic malignancies146 and interleukin-13 receptors in squamous cell carcinomas. A simultaneous examination of GBM samples for EGFR gene amplification, mRNA, and protein found approximately one-third had gene amplification, all had mRNA, and 85% had detectable EGFR protein151 (McLendon et al. By contrast, EGFR was found in only very low levels in surrounding brain — a cir- cumstance that lends it to targeted toxin treatment with minimal unwanted toxicity. It is a recombinant chimeric protein composed of TGF-α and a genetically engineered form of the pseudomonas exotoxin PE-38.

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