Making knowledge visible: Using expert yellow pages to map capabilities in professional services firms

Accepted versio

Rare Variants in Ischemic Stroke: An Exome Pilot Study

The genetic architecture of ischemic stroke is complex and is likely to include rare or low frequency variants with high penetrance and large effect sizes. Such variants are likely to provide important insights into disease pathogenesis compared to common variants with small effect sizes. Because a significant portion of human functional variation may derive from the protein-coding portion of genes we undertook a pilot study to identify variation across the human exome (i.e., the coding exons across the entire human genome) in 10 ischemic stroke cases. Our efforts focused on evaluating the feasibility and identifying the difficulties in this type of research as it applies to ischemic stroke. The cases included 8 African-Americans and 2 Caucasians selected on the basis of similar stroke subtypes and by implementing a case selection algorithm that emphasized the genetic contribution of stroke risk. Following construction of paired-end sequencing libraries, all predicted human exons in each sample were captured and sequenced. Sequencing generated an average of 25.5 million read pairs (75 bp×2) and 3.8 Gbp per sample. After passing quality filters, screening the exomes against dbSNP demonstrated an average of 2839 novel SNPs among African-Americans and 1105 among Caucasians. In an aggregate analysis, 48 genes were identified to have at least one rare variant across all stroke cases. One gene, CSN3, identified by screening our prior GWAS results in conjunction with our exome results, was found to contain an interesting coding polymorphism as well as containing excess rare variation as compared with the other genes evaluated. In conclusion, while rare coding variants may predispose to the risk of ischemic stroke, this fact has yet to be definitively proven. Our study demonstrates the complexities of such research and highlights that while exome data can be obtained, the optimal analytical methods have yet to be determined

CMS physics technical design report : Addendum on high density QCD with heavy ions

Peer reviewe

Towards a better future: the trans-generational impact of the Troubles on mental health.

• Chapter 1: The impact of the conflict’s legacy on children in Northern Ireland: A review of the research 27 • Chapter 2: The impact of the conflict’s legacy on early years’ development of children and young people 36 • Chapter 3: Latent profiles of childhood adversity, exposure to Troubles/ conflict related trauma and mental health disorders in the Northern Ireland population 50 • Chapter 4: Trans-generational trauma in Northern Ireland: Results from the Northern Ireland Study of Health and Stress 60 • Chapter 5: The impact of the legacy of the Troubles on suicidal behaviour 68 • Chapter 6: Treating trans-generational trauma and building resilience among young people in Northern Ireland 80 • Chapter 7: A survey of organisations in Northern Ireland concerned and working with the trans-generational impact of the Troubles on children and young people 93 P.11 At a societal level the research provided evidence that identified the following key findings: • The majority of people who experienced traumatic events and violence are not adversely affected in the long term; • However a group of people have developed problems including mental disorders which have impacted on their functioning at family and community levels. The most recent figures estimate that this group represents around 14% of the adult population; • Alcohol and other drugs are commonly used among those adversely affected by the Troubles; • Economic deprivation constitutes an additional stressor which in turn impacts negatively on mental and general health; and • The political and social divisions in Northern Ireland impact upon social integration and are associated with sectarianism and increasingly racism, homophobia and “hate crime”

Awakening from the listeriosis crisis: Food safety challenges, practices and governance in the food retail sector in South Africa

The recent listeriosis outbreak in South Africa brought food safety concerns to the fore in terms of both policy and practice. These concerns encompass both health and nutrition aspects, as well as the economy, because the food system in South Africa contributes significantly to economic growth and food security. However, the food sector is challenged with food safety risks, such as foodborne diseases, food fraud and a general lack of effective enforcement of regulation. The inability of government to effectively regulate the food sector is a contributing factor to increased food safety risks. Focusing on the formal sector, which is subject to regulation, this review provides an overview of the current state of food safety policies and regulations, food safety challenges, and food safety practices in the food system, after the listeriosis crisis of 2017 and 2018