Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency:structure-function relationships and studies in a compound heterozygous proband

Two novel mutations were identified in a compound heterozygous male with lecithin:cholesterol acyltransferase (LCAT) deficiency. Exon sequence determination of the LCAT gene of the proband revealed two novel heterozygous mutations in exons one (C110T) and six (C991T) that predict non-conservative amino acid substitutions (Thr13Met and Pro307Ser, respectively). To assess the distinct functional impact of the separate mutant alleles, studies were conducted in the proband's 3-generation pedigree. The compound heterozygous proband had negligible HDL and severely reduced apolipoprotein A-I, LCAT mass, LCAT activity, and cholesterol esterification rate (CER). The proband's mother and two sisters were heterozygous for the Pro307Ser mutation and had low HDL, markedly reduced LCAT activity and CER, and the propensity for significant reductions in LCAT protein mass. The proband's father and two daughters were heterozygous for the Thr13Met mutation and also displayed low HDL, reduced LCAT activity and CER, and more modest decrements in LCAT mass. Mean LCAT specific activity was severely impaired in the compound heterozygous proband and was reduced by 50% in individuals heterozygous for either mutation, compared to wild type family members. It is also shown that the two mutations impair both catalytic activity and expression of the circulating protein.

Using Mesh-Geometry Relationships to Transfer Analysis Models between CAE Tools

Integrating analysis and design models is a complex task due to differences between the models and the architectures of the toolsets used to create them. This complexity is increased with the use of many different tools for specific tasks during an analysis process. In this work various design and analysis models are linked throughout the design lifecycle, allowing them to be moved between packages in a way not currently available. Three technologies named Cellular Modeling, Virtual Topology and Equivalencing are combined to demonstrate how different finite element meshes generated on abstract analysis geometries can be linked to their original geometry. Establishing the equivalence relationships between models enables analysts to utilize multiple packages for specialist tasks without worrying about compatibility issues or rework.

General practitioners’ management of the long-term sick role

In this paper, we use qualitative research techniques to examine the role of general practitioners in the management of the long-term sickness absence. In order to uncover the perspectives of all the main agents affected by the actions of general practitioners, a case study approach focussing on one particular employment sector, the public health service, is adopted. The role of family physicians is viewed from the perspectives of health service managers, occupational health physicians, employees / patients, and general practitioners. Our argument is theoretically framed by Talcott Parsons’s model of the medical contribution to the sick role, along with subsequent conceptualisations of the social role and position of physicians. Sixty one semi-structured interviews and three focus group interviews were conducted in three Health and Social Care Trusts in Northern Ireland between 2010 and 2012. There was a consensus among respondents that general practitioners put far more weight on the preferences and needs of their patients than they did on the requirements of employing organisations. This was explained by respondents in terms of the propinquity and longevity of relationships between doctors and their patients, and by the ideology of holistic care and patient advocacy that general practitioners viewed as providing the foundations of their approach to patients. The approach of general practitioners was viewed negatively by managers and occupational health physicians, and more positively by general practitioners and patients. However, there is some evidence that general practitioners would be prepared to forfeit their role as validators of sick leave. Given the imperatives of both state and capital to reduce the financial burden of long-term sickness, this preparedness puts into doubt the continued role of general practitioners as gatekeepers to legitimate long-term sickness absence.

Queering the Family: Attitudes towards Lesbian and Gay Relationships and Families in Northern Ireland

The Northern Ireland Life andTimes (NILT) Survey has asked questions on lesbian, gay, bisexual and transgender (LGBT) issues since 1998. To date survey data have focused primarily on issues relating to prejudice, discrimination and tolerance. In 2012 a range of questions focussing more specifically on LGBT1 issues was included. This collected information on knowledge and perceptions of the LGBT population; personal prejudice; attitudes on equality issues; the visibility of LGBT people and family-related issues.

This update provides an overview of some of the information emerging from this data. It discusses attitudes towards same-sex relations and notable changes over time. Given recent political debate the primary focus of this paper is on attitudes relating to ‘queer’ marriage, family and parenting. We use the term ‘queer’ here to refer to ‘the diverse family structures formed by those with non-normative gender behaviours or sexual orientations’ (Bernstein and Reimann, 2001: 3). As previous updates have noted, there have been significant legislative and policy changes in this area (Jarman, 2010) and this continues with ongoing discussions regarding the development of a Sexual Orientation Strategy for Northern Ireland (Gray et al, 2013).

The perspectives of ‘disengaged’ students in the 14–19 phase on motivations and barriers to learning within the contexts of institutions and classrooms

In addressing educational disengagement, government policy in England focuses primarily on raising the age of educational participation, promoting vocationalism and directing resources at the population of young people not engaged in any education, employment or training (NEETs). However, ‘disengagement’ is a more fluid and dynamic concept than policy allows for and is visible within a wide range of students, even those deemed to be engaged by their presence in education and educational settings. This paper presents students’ accounts of their educational experiences which suggest that the context of the classroom, student–teacher relationships, peer relationships and pedagogical methods used in classrooms are salient factors in understanding engagement.

The Reintegration of Sex Offenders: Barriers and Opportunities for Employment

The process of reintegration of offenders after release from prison, or during a community sentence, is a key aim of criminal justice policy. This article provides details from recent research that investigated the barriers and opportunities to employment for sex offenders. The authors describe the barriers that are faced by sex offenders and the anxieties that employers experience when employing sex offenders. The authors conclude that the approach taken by the State is less than reintegrative and serves to increase the barriers and reduce the opportunities for employment for sex offenders.