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

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

Ethnicity and consumption: South Asian food shopping patterns in Britain 1947-75

Authors' draft version also available on University of Surrey e-print repository. Final version published by Sage and available at http://joc.sagepub.com/This article reviews the literature that explores the relationship between ethnic identities and food consumption, with particular reference to business management studies. It focuses on the food shopping practices of south Asians in Britain in the period 1947 to 1975, to illustrate the need for more historically contextualized studies that can provide a more nuanced exploration of any interconnections between ethnic identity and shopping behaviour. The article draws on a reasonably long-standing interest in ethnicity and consumption in marketing studies, and explores the conceptual use of acculturation within this literature. The arguments put forward are framed by recent interdisciplinary studies of the broader relationship between consumption and identity, which stress the importance of contextualizing any influence of ethnic identifications through a wider consideration of other factors including societal status, gender and age, rather than giving it singular treatment. The article uses a body of empirical research drawn from recent oral histories, to explore how these factors informed everyday shopping practices among south Asians in Britain. It examines some of the shopping and wider food provisioning strategies adopted by early immigrants on arrival in Britain. It considers the interaction between the south Asian population and the changing retail structure, in the context of the development of self-service and the supermarket. Finally, it demonstrates how age, gender and socioeconomic status interacted with ethnic identities to produce variations in shopping patterns

Small farmers and sustainability: Institutional barriers to investment and innovation in the Malaysian palm oil industry in Sabah

The Malaysian palm oil industry is well known for the social, environmental and sustainability challenges associated with its rapid growth over the past ten years. Technologies exist to reduce the conflict between national development aims of economic uplift for the rural poor, on the one hand, and ecological conservation, on the other hand, by raising yields and incomes from areas already under cultivation. But the uptake of these technologies has been slow, particularly in the smallholder sector. In this paper we explore the societal and institutional challenges that influence the investment and innovation decisions of micro and small enterprise (MSE) palm oil smallholders in Sabah, Malaysia. Based on interviews with 38 smallholders, we identify a number of factors that reduce the smallholders' propensity to invest in more sustainable practices. We discuss why more effective practices and innovations are not being adopted using the concepts of, firstly, institutional logics to explore the internal dynamics of smallholder production systems, including attitudes to sustainability and innovation; and, secondly, institutional context to explore the pressures the smallholders face, including problems of access to land, labour, capital, knowledge and technical resources. These factors include limited access to global market information, corruption and uncertainties of legal title, weak economic status and social exclusion. In discussing these factors we seek to contribute to wider theoretical debates about the factors that block innovation and investment in business improvements in marginal regions and in marginalised groups

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

Abstract Vesicoureteric reflux (VUR) is the commonest urological anomaly in children. Despite treatment improvements, associated renal lesions – congenital dysplasia, acquired scarring or both – are a common cause of childhood hypertension and renal failure. Primary VUR is familial, with transmission rate and sibling risk both approaching 50%, and appears highly genetically heterogeneous. It is often associated with other developmental anomalies of the urinary tract, emphasising its etiology as a disorder of urogenital tract development. We conducted a genome-wide linkage and association study in three European populations to search for loci predisposing to VUR. Family-based association analysis of 1098 parent-affected-child trios and case/control association analysis of 1147 cases and 3789 controls did not reveal any compelling associations, but parametric linkage analysis of 460 families (1062 affected individuals) under a dominant model identified a single region, on 10q26, that showed strong linkage (HLOD = 4.90; ZLRLOD = 4.39) to VUR. The ~9Mb region contains 69 genes, including some good biological candidates. Resequencing this region in selected individuals did not clearly implicate any gene but FOXI2, FANK1 and GLRX3 remain candidates for further investigation. This, the largest genetic study of VUR to date, highlights the 10q26 region as a major genetic contributor to VUR in European populations

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

Land Preservation: An Essential Ingredient in Smart Growth

The preservation of land for working rural landscapes, wildlife habitat, urban parks, recreational trails, and protecting water supplies and floodplains is emerging as an integral component of smart growth programs. Both the general public and nonprofit organizations have been willing to spend billions of dollars on land preservation because of a perception that traditional land use planning and regulation are not successfully accommodating growth or protecting valuable natural resources. The literature on smart growth has largely overlooked the potential of land preservation to curb sprawl and to foster livable communities. The literature on land preservation has focused on the mechanics of conservation easements and land purchases rather than on how land preservation can fit in the comprehensive planning process to achieve community smart growth goals. More research needs to be done on the strategic use of land preservation in shaping and directing growth as part of a comprehensive planning effort

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