4 resultados para Independent Studies Programs -- Història

em Aston University Research Archive


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Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage. Here, we set out to identify the gene(s) conferring susceptibility by a two stage strategy of linkage and association analysis. Methodology/Principal Findings: Linkage analysis: 264 UK families and 155 US families each containing at least one child diagnosed with dyslexia were genotyped with a dense set of microsatellite markers on chromosome 18. Association analysis: Using a discovery sample of 187 UK families, nearly 3000 SNPs were genotyped across the chromosome 18 dyslexia susceptibility candidate region. Following association analysis, the top ranking SNPs were then genotyped in the remaining samples. The linkage analysis revealed a broad signal that spans approximately 40 Mb from 18p11.2 to 18q12.2. Following the association analysis and subsequent replication attempts, we observed consistent association with the same SNPs in three genes; melanocortin 5 receptor (MC5R), dymeclin (DYM) and neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L). Conclusions: Along with already published biological evidence, MC5R, DYM and NEDD4L make attractive candidates for dyslexia susceptibility genes. However, further replication and functional studies are still required.

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Independent studies have shown that candidate genes for dyslexia and specific language impairment (SLI) impact upon reading/language-specific traits in the general population. To further explore the effect of disorder-associated genes on cognitive functions, we investigated whether they play a role in broader cognitive traits. We tested a panel of dyslexia and SLI genetic risk factors for association with two measures of general cognitive abilities, or IQ, (verbal and non-verbal) in the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort (N>5,000). Only the MRPL19/C2ORF3 locus showed statistically significant association (minimum P = 0.00009) which was further supported by independent replications following analysis in four other cohorts. In addition, a fifth independent sample showed association between the MRPL19/C2ORF3 locus and white matter structure in the posterior part of the corpus callosum and cingulum, connecting large parts of the cortex in the parietal, occipital and temporal lobes. These findings suggest that this locus, originally identified as being associated with dyslexia, is likely to harbour genetic variants associated with general cognitive abilities by influencing white matter structure in localised neuronal regions.

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In recent years, there have been increasing recommendations for multidisciplinary collaboration between clinical pharmacists and medical microbiologists in an attempt to control the quality (and quantity) of antibiotic prescribing. A questionnaire addressing the utilization of antibiotic prescribing controls was sent to the chief pharmacist and medical microbiologist in UK NHS hospitals. Responses were received from both the chief pharmacist and the medical microbiologist employed in the same hospital from 83 hospitals (a 30% response rate from two independent studies). A high level of disagreement and poor awareness was identified between the interprofessional staff groups regarding the existence of antibiotic formulary (with disagreement between the two groups, or not known by one or both respondents, in 46% of the paired hospitals, N=38) and guideline documents (13%, N=11), performance of antibiotic prescribing audits (40%, N=33), and whether pharmacists (52%, N=43) and medical microbiologists (77%, N=64) monitored physician compliance with antibiotic prescribing control documents. This study has identified poor knowledge of the existence of basic antibiotic prescribing control mechanisms and the role of professional colleagues. It is suggested that there is some way to go before 'Agenda for Change' principles of flexible and collaborative roles are met. © 2004 The Hospital Infection Society. Published by Elsevier Ltd. All rights reserved.

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Aim: To evaluate OneTouch® Verio™ test strip performance at hypoglycaemic blood glucose (BG) levels (<3.9mmol/L [<70mg/dL]) at seven clinical studies. Methods: Trained clinical staff performed duplicate capillary BG monitoring system tests on 700 individuals with type 1 and type 2 diabetes using blood from a single fingerstick lancing. BG reference values were obtained using a YSI 2300 STAT™ Glucose Analyzer. The number and percentage of BG values within ±0.83. mmol/L (±15. mg/dL) and ±0.56. mmol/L (±10. mg/dL) were calculated at BG concentrations of <3.9. mmol/L (<70. mg/dL), <3.3. mmol/L (<60. mg/dL), and <2.8. mmol/L (<50. mg/dL). Results: At BG concentrations <3.9. mmol/L (<70. mg/dL), 674/674 (100%) of meter results were within ±0.83. mmol/L (±15. mg/dL) and 666/674 (98.8%) were within ±0.56. mmol/L (±10. mg/dL) of reference values. At BG concentrations <3.3. mmol/L (<60. mg/dL), and <2.8. mmol/L (<50. mg/dL), 358/358 (100%) and 270/270 (100%) were within ±0.56. mmol/L (±10. mg/dL) of reference values, respectively. Conclusion: In this analysis of data from seven independent studies, OneTouch Verio test strips provide highly accurate results at hypoglycaemic BG levels. © 2012 Elsevier Ireland Ltd.