Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.

'"These schemes will win for themselves the confidence of the people": Irish independence, poor law reform and hospital provision'

This article examines hospital provision in Ireland during the early twentieth century. It examines attempts by the newly independent Irish Free State to reform and de-stigmatise medical relief in former workhouse infirmaries. Such reforms were designed to move away from nineteenth century welfare regimes which were underpinned by principles of deterrence. The reform initiated in independent Ireland - the first attempted break-up of the New Poor Law in Great Britain or Ireland - was partly successful. Many of the newly named County and District Hospitals provided solely for medical cases and managed to dissociate such health care provision from the relief of poverty. However, some hospitals continued to act as multifunctional institutions and provided for various categories including the sick, the aged and infirm, 'unmarried mothers' and 'harmless lunatics'. Such institutions often remained associated with the relief of poverty. This article also examines patient fee-payment and outlines how fresh terms of entitlement and means-testing were established. Such developments were even more pronounced in voluntary hospitals where the majority of patients made a financial contribution to their treatment. The article argues that the ability to pay at times determined the type of provision, either voluntary or rate-aided, available to the sick. However, it concludes that the clinical condition of patients often determined whether they entered a more prestigious voluntary hospital or the former workhouse. Although this article concentrates on two Irish case studies, County Kerry and Cork City; it is conceptualised within wider developments with particular reference to the British context.

Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study

BACKGROUND: Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL in a representative group of adults aged 16 and over in a dedicated family cardiac screening clinic.

METHODS: Prospective survey of consecutive consenting patients attending a cardiac screening clinic, over a 12 month period. Data were collected using two health measurement tools: the Short Form 12 (version 2) and the Hospital Anxiety and Depression Scale (HADS), along with baseline demographic and screening visit-related data. The HADS and SF-12v.2 outcomes were compared by age group. Associations with a higher HADS score were examined using logistic regression, with multi-level modelling used to account for the family-based structure of the data.

RESULTS: There was a study response rate of 86.6%, with n=334 patients providing valid HADS data (valid response rate 79.5%), and data on n=316 retained for analysis. One-fifth of patients were aged under 25 (n=61). Younger patients were less likely than older to describe significant depression on their HADS scale (p<0.0001), although there were overall no difference between the prevalence of a significant HADS score between the younger and older age groups (18.0% vs 20.0%, p=0.73). Significant positive associates of a higher HADS score were having lower educational attainment, being single or separated, and being closely related to the family proband. Between-family variance in anxiety and depression scores was greater than within-family variance.

CONCLUSIONS: High levels of anxiety were seen amongst patients attending a family-based cardiac screening clinic.Younger patients also had high rates of clinically significant anxiety. Higher levels of anxiety and depression tends to run in families, and this has implications for family screening and intervention programmes.

The Value and Contribution of Qualitative Research to Inform Nurse Education and Policy in Response to the Child’s Experience of Hospital

The aim of this article is to consider the value of qualitative research to inform nurse education and policy for the hospitalized child and young person (CYP). The theoretical issues and tensions inherent in qualitative research with children and young people’s nursing are presented in conjunction with a discussion and analysis of how the epistemological and ontological concepts underpin and guide research. It is then followed by an exploration of their influence on enabling nurses to understand the CYP’s perspective, before finally leading to an analysis of the impact on the development of policy and research.

An Appraisal of End-of-Life Care in Persons with Chronic Kidney Disease Dying in Hospital Wards

AIM: To review end-of-life care provided by renal healthcare professionals to hospital in-patients with chronic kidney disease, and their carers, over a 12-month period in Northern Ireland.

METHODS: Retrospective review of 100 patients.

RESULTS: Mean age at death was 72 years (19-95) and 56% were male. Eighty three percent of patients had a 'Not For Attempted Resuscitation' order during their last admission and this was implemented in 42%. Less than 20% of all patients died in a hospital ward. No patients had an advanced care plan, although 42% had commenced the Liverpool Care Pathway for the Dying Patient. Patients suffered excessive end-of-life symptoms. In addition, there was limited documentation of carer involvement and carer needs were not formally assessed.

CONCLUSION: End-of-life care for patients with advanced chronic renal disease can be enhanced. There is significant variation in the recording of discussions regarding impending death and little preparation. There is poor recording of the patients' wishes regarding death. Those with declining functional status, including those frequently admitted to hospital require holistic assessment regarding end-of-life needs. More effective communication between the patient, family and multi-professional team is required for patients who are dying and those caring for them.

New genetic loci link adipose and insulin biology to body fat distribution

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

A study of patient attitudes towards fasting prior to intravenous sedation for dental treatment in a dental hospital department

INTRODUCTION: Intravenous sedation is the most commonly used method of sedation for the provision of adult dental care. However, disparity exists in pre-operative fasting times in use for patients throughout the United Kingdom.

AIMS: The aims of the study were to obtain information on the effects of existing extended pre-operative fasting regimens, to canvas patient opinions on the fasting process, and to record their positive and negative experiences associated with it.

METHODS: A prospective cross-sectional descriptive study using survey methodology was conducted of adult patients attending a dental hospital for operative treatment under intravenous sedation. Sixty-four questionnaires were distributed over a four-month period, beginning 2nd October 2007.

RESULTS: The surveyed patient pool consisted of 38 females and 14 males with a mean age of 32.4 years. The response rate achieved was 81.2%. Seventy-one per cent of patients indicated that normally they consumed something for breakfast, the most common items being tea and toast. Fifty-one per cent of patients indicated that they would wish to eat the same as normal prior to their appointment and 59% wished to drink as normal. Only 19% of respondents reported that they did not wish to eat anything, with 8% preferring not to drink anything at all. Seventy-nine per cent of the patients reported that they had experienced at least one adverse symptom after fasting and 42% had experienced two or more such symptoms. In general, those patients with more experience of sedation found fasting less unpleasant than those attending for the first time (P<0.05). In addition, one-quarter of all patients indicated that the fasting process had made them feel more nervous about their sedation appointment.

CONCLUSIONS: The extended fasting regimen prior to intravenous sedation appeared to affect patients' wellbeing, as the majority reported adverse symptoms.

Patient preferences for dental clinical attire: a cross-sectional survey in a dental hospital

AIMS AND OBJECTIVES: This cross sectional descriptive study was designed to survey patient opinion towards dental clinical attire, name badges and commonly used cross-infection control measures.

METHOD: Patients attending a dental hospital for a consultation appointment were asked to complete a questionnaire accompanied by photographs of models portraying a range of clinical attire. A representative sample of patients completed 188 questionnaires over a four week period.

RESULTS: The study found that the majority of patients felt clinical attire was important and that they preferred dental professionals to wear name badges. The majority of patients also preferred dentists to use both safety glasses and face masks. When asked to indicate which clinical attire was most appropriate for a consultant/specialist to wear, the overwhelming opinion was that of smart dress accompanied with a white coat. In addition, most respondents wished their dentist to wear a traditional white, dental tunic.

CONCLUDING REMARKS: It is hoped that this study will be informative for the dental team and that the results will be taken into consideration when considering appropriate clinical attire in accordance with patient opinions.

Intra and Interorganizational Learning Networks and the Implementation of Quality Improvement Initiatives: The Case of a Portuguese Teaching Hospital

Learning has an important position in the development of employees and their expertise. This article focuses on the role and utilization of intra and interorganizational formal and informal learning within different types of learning networks. Specifically, we investigate different types of networks (inter- or intraorganizational) and different types of learning (formal or informal) that can occur within such networks. Our qualitative case study is based on 46 expert interviews involving 49 interviewees, through which we explore how formal and informal learning was used in the development and implementation of quality improvement initiatives at a large public teaching hospital in Portugal. Our analysis suggests that formal and informal learning can take place within different types of learning networks that draw on internal resources as well as on the collaboration with external entities. The article argues that it is important for HRD managers, seeking to support organizational learning, to understand how different types of learning take place, and which features of learning networks support these processes.

Nutritional Status of older patients attending Cork University Dental School and Hospital

Objectives: This study aimed to gather data on the nutritional status of older patients attending Cork University Dental School and Hospital for treatment in the Restorative Department. Information was also collected about the medical status of the patients including the prevalence of self-reported xerostomia.
Methods: Data was collected by a self-completion questionnaire followed by a brief clinical examination. Nutritional Status was measured using the short version of the Mini Nutritional Assessment (MNA) which recorded patients’ Body Mass Index (BMI). The MNA consists of 6 parameters (including questions relating to patients’ history and anthropometric data) with a maximum total of 14 points. Scores of 12-14 indicate “normal nutritional status” whilst those between 8 and 11 indicate a patient “at risk of malnutrition”. Scores lower than 8 are an indication a patient who is “malnourished”. All patients attending Cork University Dental School and Hospital aged 65 years and older were invited to participate in the study.

Results: A total of 22 subjects participated in this study. Twelve patients were partially dentate with 10 edentulous. The results from the MNA indicate that 11 patients were of “normal nutritional status” with 11 patients identified as being “at risk of malnutrition”. None of the subjects were “malnourished”. Edentate patients generally recorded lower MNA scores than partially dentate patients. In total, 9 patients reported experiencing xerostomia with 8 indicating that they needed to sip liquids to aid swallowing but only 3 had difficulty swallowing food.

Conclusion: This small study indicates that a number of the older patients attending Cork University Dental School and Hospital for dental care may be “at risk of malnutrition”. These findings suggest that nutritional advice and dental care should both be included in an overall package of care for older patients.