Molecular Validation of the Schizophrenia Spectrum

Background: Early descriptive work and controlled family and adoption studies support the hypothesis that a range of personality and nonschizophrenic psychotic disorders aggregate in families of schizophrenic probands. Can we validate, using molecular polygene scores from genome-wide association studies (GWAS), this schizophrenia spectrum? Methods: The predictive value of polygenic findings reported by the Psychiatric GWAS Consortium (PGC) was applied to 4 groups of relatives from the Irish Study of High-Density Schizophrenia Families (ISHDSF; N = s) differing on their assignment within the schizophrenia spectrum. Genome-wide single nucleotide polymorphism data for affected and unaffected relatives were used to construct per-individual polygene risk scores based on the PGC stage-I results. We compared mean polygene scores in the ISHDSF with mean scores in ethnically matched population controls (N = 929). Results: The schizophrenia polygene score differed significantly across diagnostic categories and was highest in those with narrow schizophrenia spectrum, lowest in those with no psychiatric illness, and in-between in those classified in the intermediate, broad, and very broad schizophrenia spectrum. Relatives of all of these groups of affected subjects, including those with no diagnosis, had schizophrenia polygene scores significantly higher than the control sample. Conclusions: In the relatives of high-density families, the observed pattern of enrichment of molecular indices of schizophrenia risk suggests an underlying, continuous liability distribution and validates, using aggregate common risk alleles, a genetic basis for the schizophrenia spectrum disorders. In addition, as predicted by genetic theory, nonpsychotic members of multiply-affected schizophrenia families are significantly enriched for replicated, polygenic risk variants compared with the general population.

Neurotrophin-3 gene polymorphisms and schizophrenia:no evidence for linkage or association

It has been suggested on the basis of neuropathological and epidemiological evidence that schizophrenia is, at least in part, a neurodevelopmental illness. Some patients show abnormalities in cell position in the medial temporal lobes of their brains. Neurotrophin-3 is one of many proteins essential for the proper growth and development of the nervous system. Therefore the finding of a polymorphism near the promoter region of the gene, alleles of which were associated with the disease, prompted us to attempt replication. In a linkage and association analysis of the same polymorphism using familial schizophrenics and population controls we found no evidence to support the finding. We conclude that mutations or polymorphisms at this gene are unlikely to be involved in the genetic aetiology of schizophrenia.

"Getting-by', Coping and Resilience in Difficult Times: Initial Findings

A report provided the initial findings from a research project that examined the resilience of households in Northern Ireland. Drawing on baseline survey data and qualitative interviews with households across four neighbourhoods, it outlined a range of challenges and the strategies used by households to 'get by'. The report said that, for these households, resilience was not about 'bouncing back', 'flourishing', or 'thriving' in the face of adversity, but was about not being overcome, 'getting-by', enduring, surviving, just 'getting on with things', and 'keeping their heads above the water'. The report noted the susceptibility of households to future stressors, such as welfare reform, especially those on means-tested benefits or with long-term illness or disability. Place, and relationships with family and friends, appeared to be important for resilience and future work would investigate this further. The report highlighted issues around the measurement of resilience and noted the importance of qualitative work.

Parental leave regulations and the persistence of the male breadwinner model: Using fuzzy-set ideal type analysis to assess gender equality in an enlarged Europe

his paper uses fuzzy-set ideal type analysis to assess the conformity of European leave regulations to four theoretical ideal typical divisions of labour: male breadwinner, caregiver parity, universal breadwinner and universal caregiver. In contrast to the majority of previous studies, the focus of this analysis is on the extent to which leave regulations promote gender equality in the family and the transformation of traditional gender roles. The results of this analysis demonstrate that European countries cluster into five models that only partly coincide with countries’ geographical proximity. Second, none of the countries considered constitutes a universal caregiver model, while the male breadwinner ideal continues to provide the normative reference point for parental leave regulations in a large number of European states. Finally, we witness a growing emphasis at the national and EU levels concerning the universal breadwinner ideal, which leaves gender inequality in unpaid work unproblematized.

Impact of abuse and neglect on the health and wellbeing of children:Child sexual abuse

During the past 30 years, the focus on the extent and nature of child abuse and neglect has been coupled with an increasing interest in the impact on children’s development, health and mental wellbeing. Child maltreatment is both a human rights violation and a complex public health issue, likely caused by a myriad of factors that involve the individual, the family, and the community. Child abuse includes any type of maltreatment or harm inflicted upon children and young people in interactions between adults (or older adolescents). Such maltreatment is likely to cause enduring harm to the child.
The different forms of abuse and neglect often occur together in one family and can affect one or more children. These include, in deceasing level of frequency: neglect; physical abuse and non-accidental injury; emotional abuse; and sexual abuse (Cawson et al, 2000; 2002). Recently, bullying and domestic violence have been included as forms of abuse of children.
There is a sizeable body of literature on the relationship between types of child maltreatment and a variety of negative health and mental health consequences. These include biological, psychological, and social deficits (for reviews, see Crittenden, 1998; Kendall-Tackett, 2001; 2003). Aside from the serious physical and health consequences of child maltreatment, several emotional and behavioural consequences for children have been noted in the literature.

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe.

Understanding coronary heart disease-related disability in older adults in the Republic of Ireland and Northern Ireland in 2010/2011

Background

Although life expectancy continues to increase in the Republic of Ireland (ROI) and Northern Ireland (NI), coronary heart disease (CHD) remains a leading cause of death and disability in older adults. Some, but not all, of the socioeconomic inequality in cardiovascular disability can be explained by a social gradient in conventional risk factors. The aims of the research were to assess CHD-related disability, and to establish the prevalence and population attributable fractions (PAFs) of risk factors for CHD-related disability across gender and socioeconomic groups in older adults in NI and ROI.

Pseudomonas aeruginosa exhibits frequent recombination, but only a limited association between genotype and ecological setting

Pseudomonas aeruginosa is an opportunistic pathogen and an important cause of infection, particularly amongst cystic fibrosis (CF) patients. While specific strains capable of patient-to-patient transmission are known, many infections appear to be caused by unique and unrelated strains. There is a need to understand the relationship between strains capable of colonising the CF lung and the broader set of P. aeruginosa isolates found in natural environments. Here we report the results of a multilocus sequence typing (MLST)-based study designed to understand the genetic diversity and population structure of an extensive regional sample of P. aeruginosa isolates from South East Queensland, Australia. The analysis is based on 501 P. aeruginosa isolates obtained from environmental, animal and human (CF and non-CF) sources with particular emphasis on isolates from the Lower Brisbane River and isolates from CF patients obtained from the same geographical region. Overall, MLST identified 274 different sequence types, of which 53 were shared between one or more ecological settings. Our analysis revealed a limited association between genotype and environment and evidence of frequent recombination. We also found that genetic diversity of P. aeruginosa in Queensland, Australia was indistinguishable from that of the global P. aeruginosa population. Several CF strains were encountered frequently in multiple ecological settings; however, the most frequently encountered CF strains were confined to CF patients. Overall, our data confirm a non-clonal epidemic structure and indicate that most CF strains are a random sample of the broader P. aeruginosa population. The increased abundance of some CF strains in different geographical regions is a likely product of chance colonisation events followed by adaptation to the CF lung and horizontal transmission among patients.

Pharmacological interventions for dementia in people with Down Syndrome (Protocol).

Background: People with Down syndrome are vulnerable to developing dementia at an earlier age than the general population. Alzheimer’s disease and cognitive decline in people with Down syndrome can place a significant burden on both the person with Down syndrome and their family and carers. Various pharmacological interventions, including donepezil, galantamine, memantine and rivastigmine, appear to have some effect in treating cognitive decline in people without Down syndrome, but their effectiveness for those with Down syndrome remains unclear. Objectives: To assess the effectiveness of anti-dementia pharmacological interventions and nutritional supplements for treating cognitive decline in people with Down syndrome. Search methods In January 2015, we searched CENTRAL, ALOIS (the Specialised Register of the Cochrane Dementia and Cognitive Improvement Group), Ovid MEDLINE, Embase, PsycINFO, seven other databases, and two trials registers. In addition, we checked the references of relevant reviews and studies and contacted study authors, other researchers and relevant drug manufacturers to identify additional studies. Selection criteria: Randomised controlled trials (RCTs) of anti-dementia pharmacological interventions or nutritional supplements for adults (aged 18 years and older) with Down syndrome, in which treatment was administered and compared with either placebo or no treatment. Data collection and analysis Two review authors independently assessed the risk of bias of included trials and extracted the relevant data. Review authors contacted study authors to obtain missing information where necessaryMain results Only nine studies (427 participants) met the inclusion criteria for this review. Four of these (192 participants) assessed the effectiveness of donepezil, two (139 participants) assessed memantine, one (21 participants) assessed simvastatin, one study (35 participants) assessed antioxidants, and one study (40 participants) assessed acetyl-L-carnitine. Five studies focused on adults aged 45 to 55 years, while the remaining four studies focused on adults aged 20 to 29 years. Seven studies were conducted in either the USA or UK, one between Norway and the UK, and one in Japan. Follow-up periods in studies ranged from four weeks to two years. The reviewers judged all included studies to be at low or unclear risk of bias. Analyses indicate that for participants who received donepezil, scores in measures of cognitive functioning (standardised mean difference (SMD) 0.52, 95% confidence interval (CI) -0.27 to 1.13) and measures of behaviour (SMD 0.42, 95% CI -0.06 to 0.89) were similar to those who received placebo. However, participants who received donepezil were significantly more likely to experience an adverse event (odds ratio (OR) 0.32, 95% CI 0.16 to 0.62). The quality of this body of evidence was low. None of the included donepezil studies reported data for carer stress, institutional/home care, or death. For participants who received memantine, scores in measures of cognitive functioning (SMD 0.05, 95% CI -0.43 to 0.52), behaviour (SMD -0.17, 95% CI -0.46 to 0.11), and occurrence of adverse events (OR 0.45, 95% CI 0.18 to 1.17) were similar to those who received placebo. The quality of this body of evidence was low. None of the included memantine studies reported data for carer stress, institutional/home care, or death. Due to insufficient data, it was possible to provide a narrative account only of the outcomes for simvastatin, antioxidants, and acetylL-carnitine. Results from one pilot study suggest that participants who received simvastatin may have shown a slight improvement in cognitive measures. Authors’ conclusions Due to the low quality of the body of evidence in this review, it is difficult to draw conclusions about the effectiveness of any pharmacological intervention for cognitive decline in people with Down syndrome.

The Role of Peptidyl Prolyl Isomerases in Aging and Vascular Diseases

Peptidyl prolyl isomerases (PPIases) are proteins belonging to the immunophilin family and are characterised by their cis-trans isomerization activity at the X-Pro peptide bond, in addition to their tetratricopeptide repeat (TPR) domain, important for interaction with the molecular chaperone, Hsp90. Due to this unique structure these proteins are able to facilitate protein-protein interactions which can impact significantly on a range of cellular processes such as cell signalling, differentiation, cell cycle progression, metabolic activity and apoptosis. Malfunction and/or dysregulation of most members of this class of proteins promotes cellular damage and tissue/organ failure, predisposing to ageing and age-related diseases. Many individual genes within the PPIase family are associated with several age-related diseases including cardiovascular diseases (CVDs), atherosclerosis, type II diabetes (T2D), chronic kidney disease (CDK), neurodegeneration, cancer and age-related macular degeneration (AMD), in addition to the ageing process itself. This review will focus on the different roles of PPIases, and their therapeutic/biomarker potential in these age-related vascular diseases.

'A Breath of Fresh Air': The experiences of undergraduate nursing students' participating in a creative learning project:This paper presents the experiences of undergraduate nursing students who participated in a creative learning project to explore the cells, tissues and organs of the human body through felt making.

Aim of the study
This paper presents the experiences of undergraduate nursing students who participated in a creative learning project to explore the cells, tissues and organs of the human body through felt making.

Context and Background
This project was funded by a Teaching Innovation Award from the School of Nursing and Midwifery, Queen’s University Belfast to explore creative ways of engaging year one undergraduate nursing students in learning anatomy and physiology. The project was facilitated through collaboration between University Teaching staff and Arts Care, a unique arts and health charity in Northern Ireland.

Methodology
Twelve year one students participated in four workshops designed to explore the cells, tissues and organs of the human body through the medium of felt. Facilitated by an Arts Care artist, students translated their learning into striking felt images. The project culminated in the exhibition of this unique collection of work which has been viewed by fellow students, teaching staff, nurses from practice, and artists from Arts Care, friends, family and members of the public.

Key Findings and conclusions
The opportunity to learn in a more diverse way within a safe and non-judgmental environment was valued, with students’ reporting a greater confidence in life science knowledge. Self- reflection and group discussion revealed that the project was a unique creative learning experience for all involved – students, teaching staff and artist – resulting in individual and collective benefits far beyond knowledge acquisition. As individuals we each felt respected and recognised for our unique contribution to the project. Working in partnership with Arts Care enabled us to experience the benefits of creativity to well-being and reflect upon how engagement in creative activities can help healthcare professionals to focus on the individual patient’s needs and how this is fundamental to enhancing patient-centred care

Families and Poverty: Everyday life on a low income

The recent radical cutbacks of the welfare state in the UK have meant that poverty and income management continue to be of great importance for intellectual, public and policy discourse. Written by leading authors in the field, the central interest of this innovative book is the role and significance of family in a context of poverty and low-income. Based on a micro-level study carried out in 2011 and 2012 with 51 families in Northern Ireland, it offers new empirical evidence and a theorisation of the relationship between family life and poverty. Different chapters explore parenting, the management of money, family support and local engagement. By revealing the ordinary and extraordinary practices involved in constructing and managing family and relationships in circumstances of low incomes, the book will appeal to a wide readership, including policy makers.

Blending Art and Science in Nurse Education: The Benefits and Impact of Creative Partnerships

Blending Art and Science in Nurse Education: The Benefits and Impact of Creative Partnerships

This paper presents the benefits of an innovative education partnership between lecturers from the School of Nursing and Midwifery, Queens University Belfast and Arts Care, a unique Arts and Health Charity in Northern Ireland, to engage nursing students in life sciences

Nursing and Midwifery students often struggle to engage with life science modules because they lack confidence in their ability to study science.This project was funded by a Teaching Innovation Award from the School of Nursing and Midwifery, Queens University Belfast, to explore creative ways of engaging year one undergraduate nursing students in learning anatomy and physiology. The project was facilitated through collaboration between Teaching staff from the School of Nursing and Midwifery and Arts Care, Northern Ireland. This unique Arts and Health Charity believes in the benefits of creativity to well being.

RESEARCH OBJECTIVE(S)
To explore creative ways of engaging year one undergraduate nursing students in learning anatomy and physiology.

METHODS AND METHODLOGY
Students participated in a series of workshops designed to explore the cells, tissues and organs of the human body through the medium of felt. Facilitated by an Arts Care artist, and following self-directed preparation, students discussed and translated their learning of the cells, tissues and organs of the human body into striking felt images. During the project students kept a reflective journal of their experience to document how participation in the project enhanced their learning and professional development

RESULTS
Creativity transformed and brought to life the students learning of the cells, tissues and organs of the human body.

The project culminated in the exhibition of a unique body of artwork which has been exhibited across Northern Ireland in hospitals and galleries and viewed by fellow students, teaching staff, nurses from practice, artists, friends, family and members of the public.

CONCLUSION
The impact of creativity learning strategies in nurse education should be further explored.

REFERENCES
Bennett, M and Rogers, K.MA. (2014) First impressions matter: an active, innovative and engaging method to recruit student volunteers for a pedagogic project. Reflections, Available online at: QUB, Centre for Educational Development / Publications / Reflections Newsletter, Issue 18, June 2014.

Chickering,A.W. and Gamson,Z.F. (1987) Seven principles for good practice in undergraduate education The American Association for Higher Education Bulletin, March. http://www.aahea.org/aahea/articles/sevenprinciples1987.htm, accessed 8th August 2014

Fell, P., Borland, G., Lynne, V. (2012) Lab versus lectures: can lab based practical sessions improve nursing students’ learning of bioscience? Health and Social Care Education 3:1, 33-38