1000 resultados para genetics, medical


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Revised Salary Scales for Medical Consultants with effect from 1 January 2009 Click here to download PDF 56kb

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Infertility Treatments for Women: A Review of the Bio-medical Evidence Click here to download PDF 1.5mb Summary of Report PDF 971kb

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Aim. The study aimed at describing the evolution over a 6-year period of patients leaving the emergency department (ED) before being seen ("left without being seen" or LWBS) or against medical advice ("left against medical advice" or LAMA) and at describing their characteristics. Methods. A retrospective database analysis of all adult patients who are admitted to the ED, between 2005 and 2010, and who left before being evaluated or against medical advice, in a tertiary university hospital. Results. During the study period, among the 307,716 patients who were registered in the ED, 1,157 LWBS (0.4%) and 1,853 LAMA (0.9%) patients were identified. These proportions remained stable over the period. The patients had an average age of 38.5 ± 15.9 years for LWBS and 41.9 ± 17.4 years for LAMA. The median time spent in the ED before leaving was 102.4 minutes for the LWBS patients and 226 minutes for LAMA patients. The most frequent reason for LAMA was related to the excessive length of stay. Conclusion. The rates of LWBS and LAMA patients were low and remained stable. The patients shared similar characteristics and reasons for leaving were largely related to the length of stay or waiting time.

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Click here to download Strategic Review of Medical Training and Career Structure Interim Report PDF 44kb Click here to download Strategic Review of Medical Training and Career Structure Terms of Reference PDF 59KB

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It has recently been proposed that the SSAT gene plays a role in the predisposition to suicidal behavior. SSAT expression was found to be down-regulated in the brain of suicide completers. In addition, a single nucleotide polymorphism (SNP) rs6526342 was associated both with variation in SSAT expression and with suicidal behavior. In this study, we aimed to characterize the relationship between SSAT dysregulation and suicide behavior. To this end, we measured SSAT expression levels in the ventral prefrontal cortex (VPFC) of suicide completers (n = 20) and controls (n = 20) and found them to be significantly down-regulated in suicide victims (P = 0.007). To identify the basis of the regulation of SSAT expression, we performed an association analysis of 309 SNPs with SSAT transcript levels in 53 lymphoblastoid cell lines from the CEPH collection. We then examined the methylation status of the SSAT promoter region in males and females suicide completers and control subjects whose SSAT brain expression had been measured. We found no evidence to support a role for SNPs in controlling the level of SSAT expression. SSAT promoter methylation levels were not different between suicide completers and controls and did not correlate with SSAT expression levels. In addition, we found no indication of a genetic association between suicidal behavior and SNPs located within the SSAT gene. Our study provides new results which show that dysregulation of SSAT expression does play a role in suicide behavior. However, our data do not support any association between rs6526342 and variation in SSAT expression or suicidal behavior.

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Minister of State with responsibility for Primary Care, Alex White TD, today (4 June 2014) concluded a series of meetings with the Irish Medical Organisation (IMO) with the signing of the Framework Agreement between the Minister of Health, the HSE and the Irish Medical Organisation (IMO) setting out a process for engagement concerning the GMS/GP contract and other publicly funded contracts involving General Practitioners (GPs). Download document here

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The Minister for Health decided, in July 2013, to establish a Working Group, chaired by Professor Brian MacCraith, President of DCU, to carry out a strategic review of medical training and career structure. The Working Group will examine and make high-level recommendations relating to training and career pathways for doctors with a view to: From January-April 2014, the Working Group prioritised work on career structures and pathways following completion of specialist training in order to report to the Minister for Health on these issues in this report. Download the Report (PDF, 800 kb)  

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  Final report of the Strategic Review Working Group chaired by Professor Brian MacCraith (President, DCU) This final report focuses on issues relating to strategic medical workforce planning and career planning and mentoring supports for trainee doctors and makes recommendations. It also addresses specific issues in relation to the specialties of public health medicine, general practice and the community-based aspects of psychiatry.   Download the report here.  

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Les coûts de traitement de certains patients s'avèrent extrêmement élevés, et peuvent faire soupçonner une prise en charge médicale inadéquate. Comme I'évolution du remboursement des prestations hospitalières passe à des forfaits par pathologie, il est essentiel de vérifier ce point, d'essayer de déterminer si ce type de patients peut être identifié à leur admission, et de s'assurer que leur devenir soit acceptable. Pour les années 1995 et 1997. les coûts de traitement dépassant de 6 déviations standard le coût moyen de la catégorie diagnostique APDRG ont été identifiés, et les dossiers des 50 patients dont les coûts variables étaient les plus élevés ont été analysés. Le nombre total de patients dont I'hospitalisation a entraîné des coûts extrêmes a passé de 391 en 1995 à 328 patients en 1997 (-16%). En ce qui concerne les 50 patients ayant entraîné les prises en charge les plus chères de manière absolue, les longs séjours dans de multiples services sont fréquents, mais 90% des patients sont sortis de l'hôpital en vie, et près de la moitié directement à domicile. Ils présentaient une variabilité importante de diagnostics et d'interventions, mais pas d'évidence de prise en charge inadéquate. En conclusion, les patients qualifiés de cas extrêmes sur un plan économique, ne le sont pas sur un plan strictement médical, et leur devenir est bon. Face à la pression qu'exercera le passage à un mode de financement par pathologie, les hôpitaux doivent mettre au point un système de revue interne de I'adéquation des prestations fournies basées sur des caractéristiques cliniques, s'ils veulent garantir des soins de qualité. et identifier les éventuelles prestations sous-optimales qu'ils pourraient être amenés à délivrer. [Auteurs] Treatment costs for some patients are extremely high and might let think that medical care could have been inadequate. As hospital financing systems move towards reimbursement by diagnostic groups, it is essential to assess whether inadequate care is provided, to try to identify these patients upon admission, and make sure that their outcome is good. For the years 1995 and 1997, treatment costs exceeding by 6 standard deviations the average cost of their APDRG category were identified, and the charts of the 50 patients with the highest variable costs were analyzed. The total number of patients with such extreme costs diminished from 391 in 1995 to 328 in 1997 (-16%). For the 50 most expensive patients, long stays in several services were frequent, but 90% of these patients left the hospital alive, and about half directly to their home. They presented an important variation in diagnoses and operations, but no evidence for inadequate care. Thus, patients qualified as extreme from an economic perspective cannot be qualified as such from a medical perspective, and their outcome is good. To face the pressure linked with the change in financing system, hospitals must develop an internal review system for assessing the adequacy of care, based on clinical characteristics, if they want to guarantee good quality of care and identify potentially inadequate practice.

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Bipolar disorder has a genetic component, but the mode of inheritance remains unclear. A previous genome scan conducted in 70 European families led to detect eight regions linked to bipolar disease. Here, we present an investigation of whether the phenotypic heterogeneity of the disorder corresponds to genetic heterogeneity in these regions using additional markers and an extended sample of families. The MLS statistic was used for linkage analyses. The predivided sample test and the maximum likelihood binomial methods were used to test genetic homogeneity between early-onset bipolar type I (cut-off of 22 years) and other types of the disorder (later onset of bipolar type I and early-onset bipolar type II), using a total of 138 independent bipolar-affected sib-pairs. Analysis of the extended sample of families supports linkage in four regions (2q14, 3p14, 16p23, and 20p12) of the eight regions of linkage suggested by our previous genome scan. Heterogeneity testing revealed genetic heterogeneity between early and late-onset bipolar type I in the 2q14 region (P = 0.0001). Only the early form of the bipolar disorder but not the late form appeared to be linked to this region. This region may therefore include a genetic factor either specifically involved in the early-onset bipolar type I or only influencing the age at onset (AAO). Our findings illustrate that stratification according to AAO may be valuable for the identification of genetic vulnerability polymorphisms.

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Samples containing highly unbalanced DNA mixtures from two individuals commonly occur both in forensic mixed stains and in peripheral blood DNA microchimerism induced by pregnancy or following organ transplant. Because of PCR amplification bias, the genetic identification of a DNA that contributes trace amounts to a mixed sample represents a tremendous challenge. This means that standard genetic markers, namely microsatellites, also referred as short tandem repeats (STR), and single-nucleotide polymorphism (SNP) have limited power in addressing common questions of forensic and medical genetics. To address this issue, we developed a molecular marker, named DIP-STR that relies on pairing deletion-insertion polymorphisms (DIP) with STR. This novel analytical approach allows for the unambiguous genotyping of a minor component in the presence of a major component, where DIP-STR genotypes of the minor were successfully procured at ratios up to 1:1,000. The compound nature of this marker generates a high level of polymorphism that is suitable for identity testing. Here, we demonstrate the power of the DIP-STR approach on an initial set of nine markers surveyed in a Swiss population. Finally, we discuss the limitations and potential applications of our new system including preliminary tests on clinical samples and estimates of their performance on simulated DNA mixtures.