30 resultados para 18-176


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Interest in chromosome 18 in essential hypertension comes from comparative mapping of rat blood pressure quantitative trait loci (QTL), familial orthostatic hypotensive syndrome studies, and essential hypertension pedigree linkage analyses indicating that a locus or loci on human chromosome 18 may play a role in hypertension development. To further investigate involvement of chromosome 18 in human essential hypertension, the present study utilized a linkage scan approach to genotype twelve microsatellite markers spanning human chromosome 18 in 177 Australian Caucasian hypertensive (HT) sibling pairs. Linkage analysis showed significant excess allele sharing of the D18S61 marker when analyzed with SPLINK (P=0.00012), ANALYZE (Sibpair) (P=0.0081), and also with MAPMAKER SIBS (P=0.0001). Similarly, the D18S59 marker also showed evidence for excess allele sharing when analyzed with SPLINK (P=0.016), ANALYZE (Sibpair) (P=0.0095), and with MAPMAKER SIBS (P = 0.014). The adenylate cyclase activating polypeptide 1 gene (ADCYAP1) is involved in vasodilation and has been co-localized to the D18S59 marker. Results testing a microsatellite marker in the 3′ untranslated region of ADCYAP1 in age and gender matched HT and normotensive (NT) individuals showed possible association with hypertension (P = 0.038; Monte Carlo P = 0.02), but not with obesity. The present study shows a chromosome 18 role in essential hypertension and indicates that the genomic region near the ADCYAP1 gene or perhaps the gene itself may be implicated. Further investigation is required to conclusively determine the extent to which ADCYAP1 polymorphisms are involved in essential hypertension. © 2003 Wiley-Liss, Inc.

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Context Alcohol-related traffic offences and associated trauma have attracted attention in China in recent years, culminating in changes to national legislation in May 2011. Harsher penalties were introduced, particularly for offences where blood alcohol concentration (BAC) levels above 80mg/100mL are recorded. Deemed to be drunk under the law, this is now a criminal offence attracting penalties including large monetary fines, licence suspension for 5 years and imprisonment. Objective This paper outlines key statistics about alcohol-related road trauma in Zhejiang Province and strategies used to combat drink- and drunk-driving. Key Outcomes Zhejiang Province, in China’s south east, has a population of approximately 54, 426,000; 22.36% hold a driving licence. Rapid motorisation is occurring there. In 2011, 1,383,318 new licences were issued, representing a 16.78% increase from the previous year. In 2012, there were a total of 65,000 police officers throughout the Province, 12,307 of whom (18.9%) were traffic police. Responsibility for conducting alcohol testing is the responsibility of all traffic police. The number of alcohol breath tests conducted per year was not available. However, traffic police are actively enforcing alcohol-related laws. In 2011, 89,228 drivers were charged with drink-driving (DUI;20-80mg/100 mL) and 10,014 with the more serious drunk-driving offence (DWI;>80mg/100mL) (Zhejiang Traffic Management Department, 2012). These numbers decreased from the previous year (221,262 and 26,390 respectively). For all crashes recorded in 2011 (n=20,176), 2% involved alcohol-impaired road users. Information on the role of alcohol in crashes from previous years was not available. Discussion Various strategies are employed to detect alcohol-impaired drivers including: targeting vehicles from hotels/restaurants; using sense of smell to screen drivers for further testing; passive alcohol sensors to test drivers; and blood tests for crash-involved drivers where a fatality occurred. Although resources to promote road safety are limited, various government initiatives promote awareness of the dangers of alcohol-related driving and more are needed in future.

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Introduction: Mothers’ sleep during the postpartum period is commonly characterised by bouts of sleep across the night, resulting in low sleep efficiency and daytime sleepiness. Understanding of the nature of mothers’ sleep disruption needs to incorporate indices of both sleep quantity and sleep quality, but objective assessment of sleep disturbance experienced during the first postpartum months has not been investigated in great detail. This longitudinal study aimed to objectively measure mothers’ sleep during the first 18 weeks postpartum, to ascertain the level of sleep disturbance experienced. Method: Eleven mothers (Mean age = 29.82, SD = 4.45) from Australia wore Actiwatch-2 devices for up to 7 days and nights at 6, 12 and 18 weeks postpartum. For each night of recording, a number of sleep bouts were identified. Total sleep time (TST) was calculated as the total number of minutes across the night within these bouts. Sleep efficiency was calculated as the percentage of minutes across the night classified as being part of a sleep bout, with higher scores indicating higher efficiency. Sleep quality captured the efficiency of sleep within sleep bouts, and was calculated as the percentage of epochs classified as sleep within sleep bouts, with higher scores indicating higher sleep quality. Results: At 6 weeks postpartum, mean total sleep time was 420.22 minutes (SD = 50.61). Total sleep time did not significantly differ across the assessment; however there was a trend towards an increase over time. Sleep efficiency increased across the time periods (F(2,10) = 10.30, p = .001), with a significant increase between week 12 and week 18. At 6 weeks postpartum, mean sleep quality was 93.15% (SD = 2.68) and scores did not significantly change across the assessment periods. While there was no relationship between sleep efficiency and sleep quality during weeks 6 and 12, a significant positive relationship was observed at week 18, r2 = .52, p = .013. Conclusions: Within this sample, a low level of disruption was consistently shown within the mothers’ night time sleep bouts. However, overall sleep efficiency suggested a significant proportion of time spent awake between sleep bouts. While TST remained stable over time, overall sleep efficiency improved, suggesting the mothers’ sleep was becoming more consolidated. A single sleep bout a night was not often experienced.

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Purpose Information on the use of psychotropic medications in adolescents with intellectual disability is scant. Such information can guide interventions to improve psychotropic medication use in this population. We investigated the prevalence of, and factors associated with, psychotropic medication use in adolescents with intellectual disability in Australia who live in the community. Methods Cross-sectional data were obtained from adolescents with intellectual disability living in the community in South East Queensland, Australia, between February 2007 and September 2010. Self-reported information on medication use was extracted from a health screening tool. Demographic and medical data were collected through parent/caregiver surveys. Medications were classified according to the Anatomical Therapeutic Chemical classification system. Psychopathology was assessed using the Developmental Behaviour Checklist Short Form. Logistic regression analysis was used to assess the association of demographic and medical characteristics with psychotropic medication use. Results There were 176 participants (median age = 16 years, range = 11–19 years; 55% male). Psychotropics were used by 20% of participants. Psychostimulants were the commonest psychotropic class, used by 9% of participants. Multipsychotropic prescribing was not common with only seven participants using more than one psychotropic agent. After adjusting for potentially confounding variables, use of psychotropic medications was significantly associated with male gender (adjusted odds ratio = 3.6; 95% confidence interval = 1.3–9.5) and having major behaviour problems (3.1; 1.1–8.9). Conclusions Adolescents with intellectual disability use a wide range of psychotropic medications. Being male and having major behaviour problems are associated with the use of psychotropic medications. Research examining the rationale for psychotropic prescribing in this population is needed. Copyright © 2013 John Wiley & Sons, Ltd.

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This article reports key findings from a comparative survey of the role perceptions, epistemological orientations and ethical views of 1800 journalists from 18 countries. The results show that detachment, non-involvement, providing political information and monitoring the government are considered essential journalistic functions around the globe. Impartiality, the reliability and factualness of information, as well as adherence to universal ethical principles are also valued worldwide, though their perceived importance varies across countries. Various aspects of interventionism, objectivism and the importance of separating facts from opinion, on the other hand, seem to play out differently around the globe. Western journalists are generally less supportive of any active promotion of particular values, ideas and social change, and they adhere more to universal principles in their ethical decisions. Journalists from non-western contexts, on the other hand, tend to be more interventionist in their role perceptions and more flexible in their ethical views.

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In Inglis v Connell [2003] QDC 029 the court considered s6(3) of the Personal Injuries Proceedings Act 2002 in relation to the application of the Act. The conclusion reached was that the provision should be interpreted as providing that the requirements of the Act do not apply in respect of personal injury the subject of any proceeding commenced before June 18, 2002.

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Background Knowledge about genital Chlamydia trachomatis (CT) infections in the Pacific is limited. In this study we investigated CT infection in Samoan women. Methods We recruited women having unprotected sex aged 18 to 29 years from 41 Samoan villages. They completed a questionnaire and provided a urine sample for CT testing by PCR. Associations between CT infection and possible risk factors were explored using logistic regression. Results Altogether, 239 women were recruited; 86 (36.0%; weighted estimate of prevalence: 41.9%; 95% CI: 33.4–50.5%) were positive for CT infection. A higher proportion of women aged 18 to 24 were positive (54/145; 37.2%) than those aged 25 to 29 (32/94; 34.0%; p=0.20). Being single (OR 1.92; 95% CI: 1.02–3.63) and having two or more lifetime sexual partners (OR 3.02; 95% CI: 1.19–7.67) were associated with CT infection; 27.6% of those with one lifetime partner were positive. Participants who had a previous pregnancy were less likely to be positive (OR 0.49; 95% CI: 0.27–0.87). Primiparous and multiparous women were less likely to be positive than nulliparous women (OR 0.54; 95% CI: 0.30–0.99 and OR 0.46; 95% CI: 0.24–0.89, respectively). Conclusions The prevalence of CT infection in these Samoan women is very high. Further studies, including investigating the prevalence of CT infection in men, and strategies for sustainable control are needed.

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This report describes the Year One Pilot Study processes, and articulates findings from the major project components designed to address these challenges noted above (See Figure 1). Specifically, the pilot study tested the campaign research and development process involving participatory design with young people and sector partners, and the efficacy and practicality of conducting a longitudinal, randomised control trial online with minors, including ways oflinking survey data to campaign data. Each sub-study comprehensively considered the ethical requirements of conducting online research with minors in school settings. The theoretical and methodological framework for measuring campaign engagement and efficacy (Sub-studies 3, 4 and 5) drew on the Model of Goal-Directed Behaviour (MGB) (Perugini & Bagozzi 2001) and Nudge Theory (Thaler & Sunstein, 2008).

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Objective To estimate the health and economic burdens of child maltreatment in China. Methods We did a systematic review for studies on child maltreatment in China using PubMed, Embase, PsycInfo, CINAHL-EBSCO, ERIC and the Chinese National Knowledge Infrastructure databases. We did meta-analyses of studies that met inclusion criteria to estimate the prevalence of child neglect and child physical, emotional and sexual abuse. We used data from the 2010 global burden of disease estimates to calculate disability-adjusted life-years (DALYs) lost as a result of child maltreatment. Findings From 68 studies we estimated that 26.6% of children under 18 years of age have suffered physical abuse, 19.6% emotional abuse, 8.7% sexual abuse and 26.0% neglect. We estimate that emotional abuse in childhood accounts for 26.3% of the DALYs lost because of mental disorders and 18.0% of those lost because of self-harm. Physical abuse in childhood accounts for 12.2% of DALYs lost because of depression, 17.0% of those lost to anxiety, 20.7% of those lost to problem drinking, 18.8% of those lost to illicit drug use and 18.3% of those lost to self-harm. The consequences of physical abuse of children costs China an estimated 0.84% of its gross domestic product – i.e. 50 billion United States dollars – in 2010. The corresponding losses attributable to emotional and sexual abuse in childhood were 0.47% and 0.39% of the gross domestic product, respectively. Conclusion In China, child maltreatment is common and associated with large economic losses because many maltreated children suffer substantial psychological distress and might adopt behaviours that increase their risk of chronic disease.

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Copy number variations (CNVs) as described in the healthy population are purported to contribute significantly to genetic heterogeneity. Recent studies have described CNVs using lymphoblastoid cell lines or by application of specifically developed algorithms to interrogate previously described data. However, the full extent of CNVs remains unclear. Using high-density SNP array, we have undertaken a comprehensive investigation of chromosome 18 for CNV discovery and characterisation of distribution and association with chromosome architecture. We identified 399 CNVs, of which loss represents 98%, 58% are less than 2.5 kb in size and 71% are intergenic. Intronic deletions account for the majority of copy number changes with gene involvement. Furthermore, one-third of CNVs do not have putative breakpoints within repetitive sequences. We conclude that replicative processes, mediated either by repetitive elements or microhomology, account for the majority of CNVs in the healthy population. Genomic instability involving the formation of a non-B structure is demonstrated in one region.

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This chapter addresses the areas more commonly found in everyday practice (NB circuit layouts and plant breeder's rights are not covered). Importantly, IP law has become very specialised, and as such one for which practitioners will need expertise or access to relevant experts in order to properly provide advice. The following therefore is an overview only of relevant issues.

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Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and approximately 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 x 10(-)(8)), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.

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Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite >50 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families (931 from an Australian group and 245 from a U.K. group), each with at least two members--mainly affected sister pairs--with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 (maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 (MLS = 2.09). Minor peaks (with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.