The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

Classical or transferase-deficient galactosaemia is an inherited metabolic disorder caused by mutation in the human Galactose-1-phosphate uridyl transferase (GALT) gene. Of some 170 causative mutations reported, fewer than 10% are observed in more than one geographic region or ethnic group. To better understand the population history of the common GALT mutations, we have established a haplotyping system for the GALT locus incorporating eight single nucleotide polymorphisms and three short tandem repeat markers. We analysed haplotypes associated with the three most frequent GALT gene mutations, Q188R, K285N and Duarte-2 (D2), and estimated their age. Haplotype diversity, in conjunction with measures of genetic diversity and of linkage disequilibrium, indicated that Q188R and K285N are European mutations. The Q188R mutation arose in central Europe within the last 20 000 years, with its observed east-west cline of increasing relative allele frequency possibly being due to population expansion during the re-colonization of Europe by Homo sapiens in the Mesolithic age. K285N was found to be a younger mutation that originated in Eastern Europe and is probably more geographically restricted as it arose after all major European population expansions. The D2 variant was found to be an ancient mutation that originated before the expansion of Homo sapiens out of Africa. Heredity (2010) 104, 148-154; doi:10.1038/hdy.2009.84; published online 29 July 2009

Dissonances in self-reported health and mortality across denominational groups in Northern Ireland

Measures of self-reported health status are increasingly used in research and health policy. However, the inherent subjectivity of the responses gives rise to lingering concerns about their utility, especially across national and cultural boundaries. In this study we use religious denomination as a proxy for Scottish ancestry within Northern Ireland and demonstrate significant differences in levels of self-reported ill-health that are not fully reflected in mortality risks. These findings mirror the differences between Scotland and Northern Ireland previously shown in ecological studies and provide more definitive evidence that even within the United Kingdom factors other than morbidity levels influence the perception and reporting of health status. Possible explanations for the dissonance between morbidity and mortality levels are discussed and the reasons for a preference for socio-economic rather than cultural factors are described. (C) 2010 Elsevier Ltd. All rights reserved.

Hanging Flower Baskets, Blowing in the Wind? Third Sector Groups, Cross-Border Partnerships and the EU Peace Programmes in Ireland

The EU’s Peace programmes in Ireland have promoted the cross-border activity of Third sector groups. Potentially, such activity gives substantive meaning to regional cross-border governance and helps to ameliorate ethno-national conflict by providing positive sum outcomes for ‘post-conflict’ communities. The paper mobilizes focused research conducted by the authors to explore this potential. It finds that while regional cross-border governance has indeed developed under the Peace programmes, the sustainability of the social partnerships underpinning this governance is uncertain and its significance for conflict resolution is qualified by difficulties in forming a stable power-sharing arrangement at the political elite level.

A Review of Demographic Ageing in the UK: Opportunities for Rural Research

Demographic ageing is a global phenomenon. UK policy and research have, until recently, focused on national trends and implications and largely viewed ageing as a 'pensions and care' problem. While other and more positive aspects are beginning to be acknowledged, regional, local, and rural impacts remain underinvestigated. This paper, by reviewing the literature from several disciplines and countries, introduces a series of research questions that could usefully inform future geographical inquiry. It argues that the nature, experiences, and consequences of demographic ageing will vary across space, stage in the life course and numerous aspects of our everyday lives. Our current knowledge and understanding are but the tip of the iceberg in terms of the research opportunities that lie ahead.

Trusting Groups in Coalition Formation using Social Distance

In environments where distributed team formation is key, and defections are possible, the use of trust as social capital allows social norms to be defied and compared. An agent can use this information, when invited to join a group or collation, to decide whether or not its utility will be increased by joining. In this work a social network approach is used to define and reason about the relationships contained in the agent community. Previous baseline work is extended with two decision making mechanisms. These are compared by simulating an abstract grid-like environment, and preliminary results are reported.

Intimate Mixing - Bridging the Gap? Catholic-Protestant Relationships in Northern Ireland

For many years Northern Ireland has been a divided society where members of the two main religious groups, Catholics and Protestants, have limited opportunities to interact due to segregation in their social lives. Attempts have been made to encourage religious mixing through integration in schools, housing and workplaces predicated on the theory that bringing people together can improve community relations and remove prejudices – known as the ‘contact hypothesis’. However, little is known about those who enter into mixed-religion partnerships often against the wishes of their families and communities. This paper examines the characteristics and attitudes of mixed-religion couples and suggests that they differ in their socio-demographic characteristics and in their attitudes from those who marry within their own religion. These findings add to the weight of evidence from other countries in conflict suggesting that intermarriage has a role to play in contributing to less sectarian views and improved community relations.

Do changes in illness perceptions predict changes in psychological distress among oesophageal cancer survivors?

This study aimed to examine whether changes in the illness perceptions of oesophageal cancer survivors explain changes in their levels of psychological distress relative to demographic and biomedical variables and coping strategies. Oesophageal cancer survivors completed the Illness Perception Questionnaire — Revised, the Cancer Coping Questionnaire and the Hospital Anxiety and Depression Scale at two points in time, 12 months apart. Cluster analysis was used to identify groups of respondents who reported a similar profile of change in their illness perception scores over time. Findings suggested that enhancing control cognitions and encouraging a positive focus coping strategy may be important in improving psychological health.

Contextualism as an important facet of individualism-collectivism: personhood beliefs across 37 national groups

Beliefs about personhood are understood to be a defining feature of individualism-collectivism (I-C), but they have been insufficiently explored, given the emphasis of research on values and self-construals. We propose the construct of contextualism, referring to beliefs about the importance of context in understanding people, as a facet of cultural collectivism. A brief measure was developed and refined across 19 nations (Study 1: N = 5,241), showing good psychometric properties for cross-cultural use and correlating well at the nation level with other supposed facets and indicators of I-C. In Study 2 (N = 7,623), nation-level contextualism predicted ingroup favoritism, corruption and differential trust of ingroup and outgroup members, while controlling for other facets of I-C, across 34 nations. We conclude that contextualism is an important part of cultural collectivism. This highlights the importance of beliefs alongside values and self-representations, and contributes to a wider understanding of cultural processes.

Second-order NMR spectra at high field of common organic functional groups

The proton NMR spectra of aryl n-propyl sulfides gave rise to what may appear to be first-order proton NMR spectra. Upon oxidation to the corresponding sulfone, the spectra changed appearance dramatically and were clearly second-order. A detailed analysis of these second-order spectra, in the sulfone series, provided vicinal coupling constants which indicated that these compounds had a moderate preference for the anti-conformer, reflecting the much greater size of the sulfone over the sulfide. It also emerged, from this study, that the criterion for observing large second-order effects in the proton NMR spectra of 1,2-disubstituted ethanes was that the difference in vicinal coupling constants must be large and the difference in geminal coupling constants must be small. n-Propyl triphenylphosphonium bromide and 2-trimethylsilylethanesulfonyl chloride, and derivatives thereof, also exhibited second-order spectra, again due to the bulky substituents. Since these spectra are second-order due to magnetic nonequivalence of the nuclei in question, not chemical shifts, the proton spectra are perpetually second-order and can never be rendered first-order by using higher field NMR spectrometers.