In search of knowledge and understanding: working with individuals suffering from serious mental illness and their families

This research study describes a journey taken by ten health care professionals on an educational course, the English National Board for Nursing, Midwifery and Health Visiting (ENB) A28, which aimed to enable them to develop the therapeutic skills and confidence to work effectively with the families/carers of individuals suffering from a major mental illness. Their previous education and training had not equipped them to meet the clinical demands now made of them since the focus of mental health care relocated from hospital to the • community' . The course was based in a Family Intervention Service provided in an Inner London Mental Health Trust whose clinicians had developed a treatment model which they termed 'psychosocial' and combined systemic theory. expressed emotion research findings and limited behavioural methods. Grounded Theory was the chosen research method for this study as it was important to be able to access the experience and views of each student as they emerged. The students were interviewed twice, using a semi-structured interview schedule: at the beginning of the course and within three months after its completion. The questions posed at interview were informed following a pilot study of eight of the previous year's students. The students concluded that three elements in the course teaching had most contributed to achieving their aims; theory, practice and live supervision. The role of management and its influence in the clinical life of the students emerged as important. Consequently eight managers were interviewed and revealed the degree to which they supported both the students and the aims of the course. On this depended whether the Trust's clinical services would be able to maximise the benefits from its investment in this educational resource. A retrospective study by questionnaire. and subsidiary to the main investigation. is reported on in Appendices A through F. It focussed on the experience of students who had successfully completed the course during the previous years since its validation. As in the main study. the questionnaire was formulated from information given following a pilot study of eight of the previous year's student group. The aim was to ascertain the long term effects on their clinical practice. The results were analysed using a descriptive analysis technique. Although there had been changes to the original course. the findings were similar to those in the main study and showed the importance of theoretical understanding and supervised practice. Overall. the findings indicate that the respondents valued the systemic approach which was the cornerstone of the educational experience and continued to exert an influence on their practice. They gained an awareness of the extent to which social and family systems impacted on the lives of individuals during the lengthy course of major mental illness

Moriori Cultural Database (Project Summary)

The Moriori case study is located on Rēkohu (Chatham Islands, New Zealand). It focuses on the development and implementation of a multilayer research programme that ties together work on Moriori identity, indigenous cultural heritage management and protection and resource management

Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study

© 2014 The Authors. Arthritis & Rheumatology is published by Wiley Periodicals, Inc. on behalf of the American College of Rheumatology.Peer reviewedPublisher PD

Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.

BACKGROUND: In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts. METHODS: A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India). Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement. RESULTS: The overall pooled birth prevalence (random effect) of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9). The overall pooled birth prevalence (random effect) of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5). Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn. CONCLUSION: The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India

Hardy-Weinberg Equilibrium Testing of Biological Ascertainment for Mendelian Randomization Studies

Mendelian randomization (MR) permits causal inference between exposures and a disease. It can be compared with randomized controlled trials. Whereas in a randomized controlled trial the randomization occurs at entry into the trial, in MR the randomization occurs during gamete formation and conception. Several factors, including time since conception and sampling variation, are relevant to the interpretation of an MR test. Particularly important is consideration of the “missingness” of genotypes that can be originated by chance, genotyping errors, or clinical ascertainment. Testing for Hardy-Weinberg equilibrium (HWE) is a genetic approach that permits evaluation of missingness. In this paper, the authors demonstrate evidence of nonconformity with HWE in real data. They also perform simulations to characterize the sensitivity of HWE tests to missingness. Unresolved missingness could lead to a false rejection of causality in an MR investigation of trait-disease association. These results indicate that large-scale studies, very high quality genotyping data, and detailed knowledge of the life-course genetics of the alleles/genotypes studied will largely mitigate this risk. The authors also present a Web program (http://www.oege.org/software/hwe-mr-calc.shtml) for estimating possible missingness and an approach to evaluating missingness under different genetic models

A comparison of the provision of the My Choice Weight Management Programme via general practitioner practices and community pharmacies in the United Kingdom

This study aimed to assess the effectiveness of a novel, community-based weight management programme delivered through general practitioner (GP) practices and community pharmacies in one city in the United Kingdom. This study used a non-randomized, retrospective, observational comparison of clinical data collected by participating GP practices and community pharmacies. Subjects were 451 overweight or obese men and women resident in areas of high socioeconomic deprivation (82% from black and minority ethnic groups, 86% women, mean age: 41.1 years, mean body mass index [BMI]: 34.5 kg m−2). Weight, waist circumference and BMI at baseline, after 12 weeks and after 9 months were measured. Costs of delivery were also analysed. Sixty-four per cent of participants lost weight after the first 12 weeks of the My Choice Weight Management Programme. There was considerable dropout. Mean percentage weight loss (last observation carried forward) was 1.9% at 12 weeks and 1.9% at final follow-up (9 months). There was no significant difference in weight loss between participants attending GP practices and those attending pharmacies at both 12 weeks and at final follow-up. Costs per participant were higher via community pharmacy which was attributable to better attendance at sessions among community pharmacy participants than among GP participants. The My Choice Weight Management Programme produced modest reductions in weight at 12 weeks and 9 months. Such programmes may not be sufficient to tackle the obesity epidemic

People of the British Isles: preliminary analysis of genotypes and surnames in a UK control population

There is a great deal of interest in fine scale population structure in the UK, both as a signature of historical immigration events and because of the effect population structure may have on disease association studies. Although population structure appears to have a minor impact on the current generation of genome-wide association studies, it is likely to play a significant part in the next generation of studies designed to search for rare variants. A powerful way of detecting such structure is to control and document carefully the provenance of the samples involved. Here we describe the collection of a cohort of rural UK samples (The People of the British Isles), aimed at providing a well-characterised UK control population that can be used as a resource by the research community as well as providing fine scale genetic information on the British population. So far, some 4,000 samples have been collected, the majority of which fit the criteria of coming from a rural area and having all four grandparents from approximately the same area. Analysis of the first 3,865 samples that have been geocoded indicates that 75% have a mean distance between grandparental places of birth of 37.3km, and that about 70% of grandparental places of birth can be classed as rural. Preliminary genotyping of 1,057 samples demonstrates the value of these samples for investigating fine scale population structure within the UK, and shows how this can be enhanced by the use of surnames

Collapsing-based and kernel-based single-gene analyses applied to Genetic Analysis Workshop 17 mini-exome data

Recently there has been great interest in identifying rare variants associated with common diseases. We apply several collapsing-based and kernel-based single-gene association tests to Genetic Analysis Workshop 17 (GAW17) rare variant association data with unrelated individuals without knowledge of the simulation model. We also implement modified versions of these methods using additional information, such as minor allele frequency (MAF) and functional annotation. For each of four given traits provided in GAW17, we use the Bayesian mixed-effects model to estimate the phenotypic variance explained by the given environmental and genotypic data and to infer an individual-specific genetic effect to use directly in single-gene association tests. After obtaining information on the GAW17 simulation model, we compare the performance of all methods and examine the top genes identified by those methods. We find that collapsing-based methods with weights based on MAFs are sensitive to the “lower MAF, larger effect size” assumption, whereas kernel-based methods are more robust when this assumption is violated. In addition, many false-positive genes identified by multiple methods often contain variants with exactly the same genotype distribution as the causal variants used in the simulation model. When the sample size is much smaller than the number of rare variants, it is more likely that causal and noncausal variants will share the same or similar genotype distribution. This likely contributes to the low power and large number of false-positive results of all methods in detecting causal variants associated with disease in the GAW17 data set

Resilience in education: An example from primary school in Fiji and technical vocational education and training

In the Pacific, the capacity of curriculum writers for integrating the content of climate change into their curricula and/or taught Resilience [Climate Change Adaptation (CCA) & Disaster Risk Reduction (DRR)] in education is limited. This paper described the findings of a 2018 study on the integration of climate change into primary and secondary schools’ curricula and taught resilience in education in TVET. It involves teachers (n = 30) from Kadavu and Levuka islands, curriculum writers and editors from the Ministry of Education, GIZ, SPC, and USP—in Fiji. An exploratory design was used to explore the curricula for Fiji and the EU PacTVET project at SPC. Information was collected from workshops and training events, interviews and project documents. Using BEKA (Benchmarking, Evidencing, Knowing, Applying) and the concept of ako (e.g. to study or educate), a model of climate change and resilience in education was designed as part of this research to help Pacific schools with their curricula. These results indicate how behavioural changes may shape Resilience, thus placing them in a better position to achieve the UNFCCC, the SDGs, the Sendai Framework and the Framework for Resilient Development in the Pacific (FRDP) targets and objectives by 2030 and beyond