Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

Background: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Δ7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. Methods: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Δ7aa region of the MEF2A gene was investigated based on amplicon size. Results: The Δ7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. Conclusion: The Δ7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group. © 2006 Horan et al; licensee BioMed Central Ltd.

Genetic variants of complement factor H gene are not associated with premature coronary heart disease:A family-based study in the Irish population

Background: The complement factor H (CFH) gene has been recently confirmed to play an essential role in the development of age-related macular degeneration (AMD). There are conflicting reports of its role in coronary heart disease. This study was designed to investigate if, using a family-based approach, there was an association between genetic variants of the CFH gene and risk of early-onset coronary heart disease. Methods: We evaluated 6 SNPs and 5 common haplotypes in the CFH gene amongst 1494 individuals in 580 Irish families with at least one member prematurely affected with coronary heart disease. Genotypes were determined by multiplex SNaPshot technology. Results: Using the TDT/S-TDT test, we did not find an association between any of the individual SNPs or any of the 5 haplotypes and early-onset coronary heart disease. Conclusion: In this family-based study, we found no association between the CFH gene and early-onset coronary heart disease. © 2007 Meng et al; licensee BioMed Central Ltd.

Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population

Coronary heart disease (CHD) remains a leading cause of death across the world. A region on chromosome 9p21.3 has been recently reported to be associated with CHD. We evaluated 3 SNPs and 3 common haplotypes in the 9p21.3 region in 1494 individuals from 580 Irish families, where at least 1 member had early-onset (males

Adjusting to Life After Esophagectomy: The Experience of Survivors and Carers

Following surgery for esophageal cancer, patients can experience complex physical, social, and emotional changes. Investigation of these challenges, particularly from the perspective of the patient and his or her carer, has been limited. The current study explored the emotional and cognitive experiences of esophageal cancer survivors and those of their carers, using focus groups conducted with members of a patient support group. Analysis of the patients’ data yielded three themes: coping with a death sentence, adjusting to and accepting an altered self, and the unique benefits of peer support. Analysis of the carers’ data also yielded three themes: the carer as buffer, representations of recovery and recurrence, and normalizing experiences through peer support. Esophageal cancer patients and their carers require holistic support in their efforts to adjust to the social, emotional, and physical consequences of esophagectomy. Peers could be an effective channel for the support of patients and carers.

Monitoring of Corrosion in Structural Reinforcing Bars: performance comparison using in-situ fibre optic and electric wire strain gauge systems

Abstract This work addresses the problems of effective in situ measurement of the initiation or the rate of steel corrosion in reinforced concrete structures through the use of optical fiber sensor systems. By undertaking a series of tests over prolonged periods, coupled with acceleration of corrosion, the performance of fiber Bragg grating-based sensor systems attached to high-tensile steel reinforcement bars (ldquorebarsrdquo), and cast into concrete blocks was determined, and the results compared with those from conventional strain gauges where appropriate. The results show the benefits in the use of optical fiber networks under these circumstances and their ability to deliver data when conventional sensors failed.

Four independent gene phylogenies confirm the ancient relationships of Madagascar endemic species in the Papilio demoleus group (Lepidoptera, Papilionidae).

Madagascar is home to numerous endemic species and lineages, but the processes that have contributed to its endangered diversity are still poorly understood. Evidence is accumulating to demonstrate the importance of Tertiary dispersal across varying distances of oceanic barriers, supplementing vicariance relationships dating back to the Cretaceous, but these hypotheses remain tentative in the absence of well-supported phylogenies. In the Papilio demoleus group of swallowtail butterflies, three of the five recognized species are restricted to Madagascar, whereas the remaining two species range across the Afrotropical zone and southern Asia plus Australia. We reconstructed phylogenetic relationships for all species in the P. demoleus group, as well as 11 outgroup Papilio species, using 60 morphological characters and about 4 kb of nucleotide sequences from two mitochondrial (cytochrome oxidase I and II) and two nuclear (wg and EF-1a) genes. Of the three endemic Malagasy species, the two that are formally listed as endangered or at risk represented the most basal divergences in the group, while the more common third endemic was clearly related to African P. demodocus. The fifth species, P. demoleus, showed little differentiation across southern Asia, but showed divergence from its subspecies sthenelus in Australia. Dispersal-vicariance analysis using cladograms derived from morphology and three independent genes indicated a Malagasy diversification of lime swallowtails in the middle Miocene. Thus, diversification processes on the island of Madagascar may have contributed to the origin of common butterflies that now occur throughout much of the Old World tropical and subtemperate regions. An alternative hypothesis, that Madagascar is a refuge for ancient lineages resulting from successive colonizations from Africa, is less parsimonious and does not explain the relatively low continental diversity of the group.

General and Respiratory Health Outcomes in Adult Survivors of Bronchopulmonary Dysplasia: A Systematic Review

Background: The purpose of this systematic literature review was to examine current empirical research on general and respiratory health outcomes in adult survivors of bronchopulmonary dysplasia (BPD).

Methods: We searched seven databases up to the end of November 2010 (MEDLINE, PubMed, EMBASE, PsycINFO, Maternity and Infant Care, Cumulative Index of Nursing and Allied Health Literature, and Web of Knowledge). We independently screened and included only those studies concerning the assessment of outcome measures in adult survivors of BPD. Data on methodologic design and findings were extracted from each included study; in addition, the methodologic quality of each study was assessed using the Critical Appraisal Skills Programme checklist.

Results: Fourteen cohort studies met the review criteria. Of those, a total of eight studies were considered to be of high quality (score 9-12), five of moderate quality (score 5-8), and only one was of low quality (score 0-4). In all studies of adult survivors of BPD, differences were found between the index and control groups, suggesting that many adults survivors of BPD who were born preterm or with very low birth weight had more respiratory symptoms and pulmonary function abnormalities compared with their peers. Five studies concerning radiologic findings reported structural changes persisting into adulthood. Findings from three studies suggested impairment in exercise capacity, although firm conclusions were limited by the small sample size in the studies reviewed.

Conclusions: Compared with adults born at term, adult survivors of BPD have more impairment in general and respiratory health, which does not seem to diminish over time.

Creating continuity out of the disruption of a diagnosis of HIV during pregnancy

AIM: To understand the uniqueness of the experience of testing HIV positive from the perspective of pregnant women.

BACKGROUND: As more people learn of their HIV diagnosis through routine screening processes, it is timely to reflect on the impact of receiving an unexpected positive result.

DESIGN: A prospective qualitative study.

METHODS: This paper draws on the case studies of four women who were participating in a larger prospective qualitative study of reproductive decision-making, pregnancy and childbirth following HIV diagnosis. Multiple interviews were conducted following diagnosis during pregnancy, and, after the birth of their babies. Thematic data analysis was undertaken.

RESULTS: Drawing on Becker's theory of disruption, we document the 'sudden disjuncture' of their antenatal diagnosis and the embodied emotional struggle the women engaged in to create continuity in their lives. A diagnosis of HIV disrupted the women's biographies in terms of their health, relationships and social identity. As pregnant women, the threat of HIV was experienced most significantly in relation to their unborn child. However, their narratives also revealed how a diagnosis of HIV in the context of pregnancy, whilst traumatic, provided a focus for regaining continuity in their lives, as the baby became a metaphor for hope and orientation toward the future.

CONCLUSIONS: As HIV testing becomes more 'routine', the findings of this study serve to remind health professionals that a positive diagnosis continues to constitute a major trauma to individuals and families.

RELEVANCE TO CLINICAL PRACTICE: We propose that appropriately educated nursing and midwifery staff could facilitate the 'meaning making' process that is required for newly diagnosed HIV positive persons to find a subjective sense of well-being in their lives.

The identification of potential alternative biomarkers of nitrofurazone abuse in animal derived food products

Semicarbazide (SEM) was considered to be a characteristic protein-bound side-chain metabolite of the banned veterinary drug nitrofurazone and used as a marker of nitrofurazone abuse. It was recently discovered that SEM can arise in food from sources other than nitrofurazone. This uncertainty over the source of SEM may be overcome if alternative markers specific to tissue-bound nitrofurazone residues can be determined. The structure of nitrofurazone metabolites in vivo and particular proteins to which they are bound are not known. These proteins with altered structure due to the presence of the drug metabolites can be considered as potential alternative biomarkers of nitrofurazone abuse. The proteins implicated in the in vivo binding of nitrofurazone were separated and identified. A crude mixture of proteins extracted from the liver of a rat treated with the drug was separated using a series of different techniques such as preparative isoelectric focusing and size exclusion HPLC. Multiple fractions were assayed by LC-MS/MS to detect the presence of SEM. The proteins containing SEM residues were identified by peptide mass mapping using trypsin digestion and MALDI-TOF. The first protein identified as containing high concentration of SEM was albumin. It was also shown that low molecular weight species within a protein mixture whose main constituent was glutathione S-transferase contained a high concentration of SEM. The chemical composition of these components is under investigation. Preliminary data suggest the SEM forms part of a nitrofurazone metabolite conjugated to glutathione. (C) 2008 Elsevier Ltd. All rights reserved.