373 resultados para Glycoside hydrolase family 16


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Introduction: Decompressive hemicraniectomy, clot evacuation, and aneurysmal interventions are considered aggressive surgical therapeutic options for treatment of massive cerebral artery infarction (MCA), intracerebral hemorrhage (ICH), and severe subarachnoid hemorrhage (SAH) respectively. Although these procedures are saving lives, little is actually known about the impact on outcomes other than short-term survival and functional status. The purpose of this study was to gain a better understanding of personal and social consequences of surviving these aggressive surgical interventions in order to aid acute care clinicians in helping family members make difficult decisions about undertaking such interventions. Methods: An exploratory mixed method study using a convergent parallel design was conducted to examine functional recovery (NIHSS, mRS & BI), cognitive status (Montreal Cognitive Assessment Scale, MoCA), quality of life (Euroqol 5-D), and caregiver outcomes (Bakas Caregiver Outcome Scale, BCOS) in a cohort of patients and families who had undergone aggressive surgical intervention for severe stroke between the years 2000–2007. Data were analyzed using descriptive statistics, univariate and multivariate analysis of variance, and multivariate logistic regression. Content analysis was used to analyze the qualitative interviews conducted with stroke survivors and family members. Results: Twenty-seven patients and 13 spouses participated in this study. Based on patient MOCA scores, overall cognitive status was 25.18 (range 23.4-26.9); current functional outcomes scores: NIHSS 2.22, mRS 1.74, and BI 88.5. EQ-5D scores revealed no significant differences between patients and caregivers (p=0.585) and caregiver outcomes revealed no significant differences between male/female caregivers or patient diagnostic group (MCA, SAH, ICH; p=""0.103).<"/span><"/span> Discussion: Overall, patients and families were satisfied with quality of life and decisions made at the time of the initial stroke. There was consensus among study participants that formal community-based support (e.g., handibus, caregiving relief, rehabilitation assessments) should be continued for extended periods (e.g., years) post-stroke. Ongoing contact with health care professionals is valuable to help them navigate in the community as needs change over time.

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In this article the author discusses issues arising from counselling and family dispute resolution (FDR) in relation to confidentiality and admissibility, such as whether an admission of abuse to a child, or a threat to harm the other parent, can be disclosed by the counsellor or family dispute resolution practitioner (FDRP) and used in court proceedings. It is found that the admissibility provisions in the Family Law Act 1975 (Cth) are far more narrowly defined than the confidentiality requirements and have been interpreted strictly by the courts. There are competing policy considerations: the strict “traditionalist” approach, that people can have absolute faith in the integrity of counsellors and mediators and in the confidential nature of the process, must be balanced against a more “protectionist” stance, being the individual rights of victims to have all relevant information placed before the court and to be protected from violence and abuse. It is suggested that legislative reform is required to ensure that courts balance these considerations appropriately and don’t compromise the safety of victims of abuse and family violence.

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The rate of severe depression among women in single-parent and biological families and in a variety of stepfamilies was examined in a large community sample of 13,088 pregnant women in the United Kingdom. Compared with women in biological families and published population rates, women in single-parent families and step-families reported significantly elevated rates of depression. Family-type differences in several risk factors were examined, including cohabiting (vs. married) status, relationship history, and socioeconomic and psychosocial risks, such as crowding, social support, and stressful life events. Family-type differences in depression were mediated partly by differences in social support, stressful life events, and crowding, but a main effect of family type in predicting depression remained after statistically controlling for these risks.

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The power of projects has been demonstrated by the growth in their use across an increasing range of industries and workplaces in recent years. Not only has the number of people involved in project management increased, but the qualifications and backgrounds of those people have also broadened, with engineering no longer being the only path to project management (PM). Predicting the career trajectories in Project Management has become more important for both organisations employing project managers and project managers building career portfolios. Our research involved interviewing more than 75 project officers and project managers across a range of industries to explore their career journey. We used Wittgenstein’s family resemblance theory is to analyse the information from the transcripts to identify the extent to which the roles of participants fit with the commonly accepted definition of project management. Findings demonstrate diversity of project manager backgrounds and experiences and relational competencies across these backgrounds that form and shape PM careers.

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Aim: To explore the role and needs of the family carer across different acute care contexts and their level of involvement in the care of their relative with dementia in this setting. Method: A pragmatic, exploratory-descriptive qualitative approach. A convenience sample of 30 family carers across three sites completed semi-structured interviews. Results: Family carers wanted to be involved in the acute care of their family member with dementia. They acknowledged the importance of a central source of information, educated staff, guidelines on roles and processes, and positive communication, as well as respect from staff for the carer’s knowledge of the older person and their needs. They also highlighted the need for medical staff to discuss with them the family member’s treatment and care. Conclusion: There is a need for family-focused interventions to improve communication and involvement of family in the care of family members with dementia in the acute setting.

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All of Us is a ground-breaking Australian government approved anti-bullying educational resource comprised of seven online videos that feature gender diverse, sexual diverse and intersex youths. The videos, along with unit guides and student handouts, have been designed to address a gap in high school curriculum as they teach not just about sexual diversity and gender diversity but also the values of empathy and respect, which has been demonstrated to improve students’ wellbeing and educational engagement. The resource captures the real life experiences of lesbian, gay, bisexual, transgender and intersex young people through a collection of short videos and teaching activities that are aligned to the Year 7/8 Health and Physical Education learning area of the Australian Curriculum. All Of Us has been developed to have a real impact on student attitudes towards lesbian, gay, bisexual, transgender and intersex people and to encourage whole school change that affirms and supports the right of all students, staff and families to feel safe at school. This free video resource is widely available and allows all schools, regardless of experience, location or funding, the chance to create an environment where every student can learn, every teacher can teach and every family can belong from the beginning of 2016. The resource was launched on Thursday, 26 November 2015 at Treasury Theatre, 1 Macarthur St, Melbourne. The launch was attended by almost 200 people including former Safe Schools Coalition Ambassador Jason Ball, Victorian Commissioner for Gender and Sexuality Ro Allen, Chris Bush, Executive Producer of All Of Us, Micah Scott, CEO of Minus18, All Of Us Margot Fink; Safe Schools Coalition Victoria's Manager Roz Ward and; Sally Richardson, National Program Director of Safe Schools Coalition Australia.

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We compared perception of family functioning in a sample (N = 1,496) of Aymara and non-Aymara parents and children living in Arica, Chile. The children were aged from 9 to 15 years and were recruited from the 5th to 8th grades of 9 elementary schools (4 public, 5 government-subsidized private schools) serving lower socioeconomic areas. Participants completed the Family Functioning Test (FF-SIL), which consists of 14 events or characteristics that may occur in a family. The results showed that parents and children from the Aymara group recorded lower scores for their perception of family functioning than did the non-Aymara group. Addressing this issue may be important in the prevention of psychological problems in these families.

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- P -General population, nonsmoking children (aged 5 to 12) and adolescents (aged 13 to 18) with their parents - I -Interventions with children and family members intended to deter tobacco use. Any components to change parenting behaviour, parental or sibling smoking behaviour, or family communication and interaction. - C -Usual practice, or a program of no family intervention - O -Smoking status of children who reported no use of tobacco at baseline.

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The identification of molecular networks at the system level in mammals is accelerated by next-generation mammalian genetics without crossing, which requires both the efficient production of whole-body biallelic knockout (KO) mice in a single generation and high-performance phenotype analyses. Here, we show that the triple targeting of a single gene using the CRISPR/Cas9 system achieves almost perfect KO efficiency (96%–100%). In addition, we developed a respiration-based fully automated noninvasive sleep phenotyping system, the Snappy Sleep Stager (SSS), for high-performance (95.3% accuracy) sleep/wake staging. Using the triple-target CRISPR and SSS in tandem, we reliably obtained sleep/wake phenotypes, even in double-KO mice. By using this system to comprehensively analyze all of the N-methyl-D-aspartate (NMDA) receptor family members, we found Nr3a as a short-sleeper gene, which is verified by an independent set of triple-target CRISPR. These results demonstrate the application of mammalian reverse genetics without crossing to organism-level systems biology in sleep research.

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Serum butyrylcholinesterase (BCHE) activity is associated with obesity, blood pressure and biomarkers of cardiovascular and diabetes risk. We have conducted a genome-wide association scan to discover genetic variants affecting BCHE activity, and to clarify whether the associations between BCHE activity and cardiometabolic risk factors are caused by variation in BCHE or whether BCHE variation is secondary to the metabolic abnormalities. We measured serum BCHE in adolescents and adults from three cohorts of Australian twin and family studies. The genotypes from approximately 2.4 million single-nucleotide polymorphisms (SNPs) were available in 8791 participants with BCHE measurements. We detected significant associations with BCHE activity at three independent groups of SNPs at the BCHE locus (P = 5.8 x 10(-262), 7.8 x 10(-47), 2.9 x 10(-12)) and at four other loci: RNPEP (P = 9.4 x 10(-16)), RAPH1-ABI2 (P = 4.1 x 10(-18)), UGT1A1 (P = 4.0 x 10(-8)) and an intergenic region on chromosome 8 (P = 1.4 x 10(-8)). These loci affecting BCHE activity were not associated with metabolic risk factors. On the other hand, SNPs in genes previously associated with metabolic risk had effects on BCHE activity more often than can be explained by chance. In particular, SNPs within FTO and GCKR were associated with BCHE activity, but their effects were partly mediated by body mass index and triglycerides, respectively. We conclude that variation in BCHE activity is due to multiple variants across the spectrum from uncommon/large effect to common/small effect, and partly results from (rather than causes) metabolic abnormalities.

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The recently proposed $338 million merger of Australian vet and pet products companies Greencross and Petbarn illustrates something that perhaps we have known for a while now: our pets are becoming more important to us than ever before. Pets are no longer viewed simply as animals, but have become “humanised” to the point that they are considered by many to be members of the family. Indeed, nearly 90% of Australians polled in a recent survey said they thought of their dog or cat as a member of the family, and even admitted to treating them better than human family members, which has a substantial impact on purchasing behaviours...

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For complex disease genetics research in human populations, remarkable progress has been made in recent times with the publication of a number of genome-wide association scans (GWAS) and subsequent statistical replications. These studies have identified new genes and pathways implicated in disease, many of which were not known before. Given these early successes, more GWAS are being conducted and planned, both for disease and quantitative phenotypes. Many researchers and clinicians have DNA samples available on collections of families, including both cases and controls. Twin registries around the world have facilitated the collection of large numbers of families, with DNA and multiple quantitative phenotypes collected on twin pairs and their relatives. In the design of a new GWAS with a fixed budget for the number of chips, the question arises whether to include or exclude related individuals. It is commonly believed to be preferable to use unrelated individuals in the first stage of a GWAS because relatives are 'over-matched' for genotypes. In this study, we quantify that for GWAS of a quantitative phenotype, relative to a sample of unrelated individuals surprisingly little power is lost when using relatives. The advantages of using relatives are manifold, including the ability to perform more quality control, the choice to perform within-family tests of association that are robust to population stratification, and the ability to perform joint linkage and association analysis. Therefore, the advantages of using relatives in GWAS for quantitative traits may well outweigh the small disadvantage in terms of statistical power.

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The effect of nonresponse on health and lifestyle measures has received extensive study, showing at most relatively modest effects. Nonresponse bias with respect to personality has been less thoroughly investigated. The present study uses data from responding individuals as a proxy for the missing data of their nonresponding family members to examine the presence of nonresponse bias for personality traits and disorders as well as health and lifestyle traits. We looked at the Big Five personality traits, borderline personality disorder (BPD) features, attention-deficit/hyperactivity disorder, Anger, and several measures of health (Body Mass Index, migraine) and lifestyle (smoking, alcohol use). In general, outcomes tend to be slightly more favorable for individuals from highly cooperative families compared to individuals from less cooperative families. The only significant difference was found for BPD features (p = .001). However, the absolute difference in mean scores is very small, less than 1 point for a scale ranging from 0 to 72. In conclusion, survey data on personality, health and lifestyle are relatively unbiased with respect to nonresponse.

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We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

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-Essential hypertensives display enhanced signal transduction through pertussis toxin-sensitive G proteins. The T allele of a C825T variant in exon 10 of the G protein beta3 subunit gene (GNB3) induces formation of a splice variant (Gbeta3-s) with enhanced activity. The T allele of GNB3 was shown recently to be associated with hypertension in unselected German patients (frequency=0.31 versus 0.25 in control). To confirm and extend this finding in a different setting, we performed an association study in Australian white hypertensives. This involved an extensively examined cohort of 110 hypertensives, each of whom were the offspring of 2 hypertensive parents, and 189 normotensives whose parents were both normotensive beyond age 50 years. Genotyping was performed by polymerase chain reaction and digestion with BseDI, which either cut (C allele) or did not cut (T allele) the 268-bp polymerase chain reaction product. T allele frequency in the hypertensive group was 0.43 compared with 0.25 in the normotensive group (chi2=22; P=0.00002; odds ratio=2.3; 95% CI=1.7 to 3.3). The T allele tracked with higher pretreatment blood pressure: diastolic=105+/-7, 109+/-16, and 128+/-28 mm Hg (mean+/-SD) for CC, CT, and TT, respectively (P=0.001 by 1-way ANOVA). Blood pressures were higher in female hypertensives with a T allele (P=0.006 for systolic and 0.0003 for diastolic by ANOVA) than they were in male hypertensives. In conclusion, the present study of a group with strong family history supports a role for a genetically determined, physiologically active splice variant of the G protein beta3 subunit gene in the causation of essential hypertension.