Uist Lagoons Survey

Scotland has around a hundred saline lagoons, coastal lochs that are not quite as saline as the sea. A small number of organisms are confined to these lochs, but most of these are very small and belong to groups that are difficult to identify. A consortium of specialists in identification at the National Museum of Scotland and ecologists sampled most of the saline lagoons on designated sites (SSSI and SAC) in the Uists, the area believed to have the best biodiversity of lagoon organisms in Scotland. The study not only confirmed the presence of these specialist species, but also that they were more widely distributed in the Uists than had been believed. Samples of the organisms have been placed in the permanent collections of the National Museum of Scotland and (for plants) in the Royal Botanic Gardens Edinburgh, where they will be available for future study

Predicting declines in physical function in persons with multiple chronic medical conditions: what we can learn from the medical problem list

BACKGROUND: Primary care physicians are caring for increasing numbers of persons with comorbid chronic illness. Longitudinal information on health outcomes associated with specific chronic conditions may be particularly relevant in caring for these populations. Our objective was to assess the effect of certain comorbid conditions on physical well being over time in a population of persons with chronic medical conditions; and to compare these effects to that of hypertension alone. METHODS: We conducted a secondary analysis of 4-year longitudinal data from the Medical Outcomes Study. A heterogeneous population of 1574 patients with either hypertension alone (referent) or one or more of the following conditions: diabetes, coronary artery disease, congestive heart failure, respiratory illness, musculoskeletal conditions and/or depression were recruited from primary and specialty (endocrinology, cardiology or mental health) practices within HMO and fee-for-service settings in three U.S. cities. We measured categorical change (worse vs. same/better) in the SF-36(R) Health Survey physical component summary score (PCS) over 4 years. We used logistic regression analysis to determine significant differences in longitudinal change in PCS between patients with hypertension alone and those with other comorbid conditions and linear regression analysis to assess the contribution of the explanatory variables. RESULTS: Specific diagnoses of CHF, diabetes and/or chronic respiratory disease; or 4 or more chronic conditions, were predictive of a clinically significant decline in PCS. CONCLUSIONS: Clinical recognition of these specific chronic conditions or 4 or more of a list of chronic conditions may provide an opportunity for proactive clinical decision making to maximize physical functioning in these populations

Bis(N,N-diethyl­dithio­carbamato)(1,10-phenanthroline)cobalt(III) tetra­fluorido­borate

The cationic complex in the structure of the title compound, [Co(Et2NCS2)2(C12H8N2)]BF4, has a CoIII atom with a distorted octa­hedral coordination formed by four S atoms of two diethyl­dithio­carbamate and two N atoms of 1,10-phenanthroline ligands. The crystal structure features head-to-tail stacking of the phenanthroline ligands. The tetra­fluorido­borate anions are positioned in the channels between the cation stacks running along the a axis, and form weak C—H⋯F interactions

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

: Background: One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observed in large-scale human populations to uncover genes or genomic regions that show a depletion of natural variation, indicative of selection pressure. We refer to this as “genetic constraint”. Although existing genetic constraint metrics have been demonstrated to be successful in prioritising genes or genomic regions associated with diseases, their spatial resolution is limited in distinguishing pathogenic variants from benign variants within genes. Methods: We aim to identify missense variants that are significantly depleted in the general human population. Given the size of currently available human populations with exome or genome sequencing data, it is not possible to directly detect depletion of individual missense variants, since the average expected number of observations of a variant at most positions is less than one. We instead focus on protein domains, grouping homologous variants with similar functional impacts to examine the depletion of natural variations within these comparable sets. To accomplish this, we develop the Homologous Missense Constraint (HMC) score. We utilise the Genome Aggregation Database (gnomAD) 125 K exome sequencing data and evaluate genetic constraint at quasi amino-acid resolution by combining signals across protein homologues. Results: We identify one million possible missense variants under strong negative selection within protein domains. Though our approach annotates only protein domains, it nonetheless allows us to assess 22% of the exome confidently. It precisely distinguishes pathogenic variants from benign variants for both early-onset and adult-onset disorders. It outperforms existing constraint metrics and pathogenicity meta-predictors in prioritising de novo mutations from probands with developmental disorders (DD). It is also methodologically independent of these, adding power to predict variant pathogenicity when used in combination. We demonstrate utility for gene discovery by identifying seven genes newly significantly associated with DD that could act through an altered-function mechanism. Conclusions: Grouping variants of comparable functional impacts is effective in evaluating their genetic constraint. HMC is a novel and accurate predictor of missense consequence for improved variant interpretation

Cognitive representations of disability behaviours in people with mobility limitations : consistency with theoretical constructs

Disability is conceptualised as behaviour by psychological theory and as a result of bodily impairment by medical models. However, how people with disabilities conceptualise those disabilities is unclear. The purpose of this study was to examine disability representations in people with mobility disabilities. Thirteen people with mobility disabilities completed personal repertory grids (using the method of triads) applied to activities used to measure disabilities. Ten judges with expertise in health psychology then examined the correspondence between the elicited disability constructs and psychological and medical models of disability. Participants with mobility disabilities generated 73 personal constructs ofdisability. These constructs were judged consistent with the content of two psychological models, namely the theory of planned behaviour and social cognitive theory and with the main medical model of disability, the International Classification of Functioning Disability and Health.Individuals with activity limitations conceptualise activities in a manner that is compatible with both psychological and medical models. This ensures adequate communication in contexts where the medical model is relevant, e.g. clinical contexts, as well as in everyday conversation about activities and behaviours. Finally, integrated models of disability may be of value for theory driven interdisciplinary approaches to disability and rehabilitation