3,883 research outputs found

    X-chromosome trinucleotide repeats: effects on brain structure (British Human Genetics Conference, Abstract 4.12)

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    Toward the Language Oscillogenome

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    Language has been argued to arise, both ontogenetically and phylogenetically, from specific patterns of brain wiring. We argue that it can further be shown that core features of language processing emerge from particular phasal and cross-frequency coupling properties of neural oscillations; what has been referred to as the language ‘oscillome.’ It is expected that basic aspects of the language oscillome result from genetic guidance, what we will here call the language ‘oscillogenome,’ for which we will put forward a list of candidate genes. We have considered genes for altered brain rhythmicity in conditions involving language deficits: autism spectrum disorders, schizophrenia, specific language impairment and dyslexia. These selected genes map on to aspects of brain function, particularly on to neurotransmitter function. We stress that caution should be adopted in the construction of any oscillogenome, given the range of potential roles particular localized frequency bands have in cognition. Our aim is to propose a set of genome-to-language linking hypotheses that, given testing, would grant explanatory power to brain rhythms with respect to language processing and evolution

    Diet in Medieval Gaelic Ireland: A multiproxy study of the human remains from Ballyhanna, Co. Donegal

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    This is the author accepted manuscript. The final version is available from Elsevier via the DOI in this recordThis study investigates the nature of diet in a predominantly Late Medieval Gaelic Irish skeletal population and explores whether any sex-based and/or age differences were evident in the population. A smaller sub-sample was also examined to determine whether there was any evidence for dietary change over time between the Early Medieval (c.700–c.1200) and Late Medieval periods (c.1200–c.1600). The dietary evidence was derived using a multiproxy approach that combined information from dental palaeopathology (n = 356 adults) and analysis of carbon (δ13C) and nitrogen (δ15N) stable isotope compositions (n = 72 individuals). A higher proportion of females were affected by carious lesions when compared to males. This is possibly suggestive of differing levels of carbohydrate consumption between the sexes, although other factors such as eating habits, and genetic and physiological differences may also have influenced the patterns in the data. The isotopic values indicated that both sexes were consuming similar amounts and types (marine vs. terrestrial) of dietary protein. Elevated δ15N indicated breastfeeding among the youngest in society but, once children had been weaned, the dietary protein was isotopically similar across the different age categories. Among a smaller radiocarbon-dated sub-sample (n = 37), there was an increase in both the percentage of individuals affected by dental caries and the percentage of teeth affected by dental caries between the Early Medieval and Late Medieval periods. This increase may indicate a greater inclusion of plant-based carbohydrates, such as cereals, in the diet over time, although it may also reflect the younger age distribution of the Early Medieval sample. Interpretations for each of these patterns are discussed with reference to the historical and archaeological evidence. Multiproxy palaeodietary studies for Medieval Ireland are limited and this is the first substantial study of evidence derived from both dental palaeopathology and stable isotope analysis.Transport Infrastructure Irelan

    The variability and seasonality of the environmental reservoir of Mycobacterium bovis shed by wild European badgers

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    This is the final version of the article. Available from the publisher via the DOI in this record.The incidence of Mycobacterium bovis, the causative agent of bovine tuberculosis, has been increasing in UK cattle herds resulting in substantial economic losses. The European badger (Meles meles) is implicated as a wildlife reservoir of infection. One likely route of transmission to cattle is through exposure to infected badger urine and faeces. The relative importance of the environment in transmission remains unknown, in part due to the lack of information on the distribution and magnitude of environmental reservoirs. Here we identify potential infection hotspots in the badger population and quantify the heterogeneity in bacterial load; with infected badgers shedding between 1 × 10(3)- 4 × 10(5) M. bovis cells g(-1) of faeces, creating a substantial and seasonally variable environmental reservoir. Our findings highlight the potential importance of monitoring environmental reservoirs of M. bovis which may constitute a component of disease spread that is currently overlooked and yet may be responsible for a proportion of transmission amongst badgers and onwards to cattle.We acknowledge funding from Defra, H.C.K. was in receipt of a BBSRC DTG studentship and E.M.W. and O.C. acknowledge support from BBSRC for collaboration with Eamonn Gormley, UCD. We are also grateful to the APHA field team at Woodchester Park for support during fieldwork, and to Defra who fund the long-term stud

    Survey of the needs of patients with spinal cord injury: impact and priority for improvement in hand function in tetraplegics\ud

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    Objective: To investigate the impact of upper extremity deficit in subjects with tetraplegia.\ud \ud Setting: The United Kingdom and The Netherlands.\ud \ud Study design: Survey among the members of the Dutch and UK Spinal Cord Injury (SCI) Associations.\ud \ud Main outcome parameter: Indication of expected improvement in quality of life (QOL) on a 5-point scale in relation to improvement in hand function and seven other SCI-related impairments.\ud \ud Results: In all, 565 subjects with tetraplegia returned the questionnaire (overall response of 42%). Results in the Dutch and the UK group were comparable. A total of 77% of the tetraplegics expected an important or very important improvement in QOL if their hand function improved. This is comparable to their expectations with regard to improvement in bladder and bowel function. All other items were scored lower.\ud \ud Conclusion: This is the first study in which the impact of upper extremity impairment has been assessed in a large sample of tetraplegic subjects and compared to other SCI-related impairments that have a major impact on the life of subjects with SCI. The present study indicates a high impact as well as a high priority for improvement in hand function in tetraplegics.\ud \u
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