Communication of genetic information within families: the case for familial comity

Advances in genetic technologies raise a multitude of ethical issues, some of which give rise to novel dilemmas for medical practice. One of the most controversial problems arising in clinical genetics is that of confidentiality and who may disclose genetic health information. This paper considers the question of when it is appropriate for health professionals to disclose clinically significant genetic information without patient consent. Existing ethical principles offer little guidance in relation to this issue. We build on suggestions that genetic information may be viewed as collective or shared information, and we introduce the concept of ‘familial comity’ as a fresh way to consider the issues. Keywords: Genetics, Ethics, clinical, Confidentiality, Family, Genetic privacyThis article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

Communication of genetic information within families: the case for familial comity

Advances in genetic technologies raise a multitude of ethical issues, some of which give rise to novel dilemmas for medical practice. One of the most controversial problems arising in clinical genetics is that of confidentiality and who may disclose genetic health information. This paper considers the question of when it is appropriate for health professionals to disclose clinically significant genetic information without patient consent. Existing ethical principles offer little guidance in relation to this issue. We build on suggestions that genetic information may be viewed as collective or shared information, and we introduce the concept of ‘familial comity’ as a fresh way to consider the issues. Keywords: Genetics, Ethics, clinical, Confidentiality, Family, Genetic privacyThis article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

Can the study of self-assembly in solution lead to a good model for the nucleation pathway? The case of tolfenamic acid

To further our understanding of the role of solution chemistry in directing nucleation processes new experimental and computational data are presented on the solution and crystallisation chemistry of tolfenamic acid (TA), a benchmark polymorphic compound. With these, and previously published data, we were able to establish that TA is rapidly fluctuating between conformers in solution with either solvated monomers or dimers present depending on the solvent. Hence, despite the fact that conformational polymorphs can be obtained from crystallisations in ethanol, we found no links between solution chemistry and crystallisation outcomes. We discuss the implications of these conclusions for the nature of the nucleation pathway via dimers and clusters and raise experimental questions about how best to undertake relevant crystallisation studies

Effect of SP-B peptides on the uptake of liposomes by alveolar cells

Background: Exogenous surfactant has been accepted worldwide as a therapy of RDS in premature and term infants. Exogenous surfactant is usually derived from lung extracts containing phospholipids and the surfactant proteins SP-B and SP-C. Synthetic peptides of SP-B and SP-C are being tested with the aim to develop a completely synthetic surfactant preparation. Nevertheless, the effects of these peptides on the endogenous surfactant metabolism remain unknown. Objectives: The effect of synthetic SP-B peptides on uptake of surfactant-like liposomes was investigated in alveolar cells. Native SP-B and seven SP-B peptides were included: monomeric and dimeric SP-B1-25(Cys-11 → Ala-11), SP-B63-78and Ala-SP-B63-78(Cys-71 → Ala-71;Cys-77 → Ala-77)and their serine mutants. Methods: In vitro, alveolar macrophages (AM) and alveolar type II cells (ATII) were incubated with liposomes containing SP-B or one of its peptides. In vivo, rats received intratracheally various SP-B peptides (SP-B/lipid ratio 1:33 w/w) incorporated in fluorescent surfactant-like liposomes. One hour after instillation, AM and ATII were isolated and cell-associated fluorescence was determined using flow cytometry. Confocal laser microscopy was performed to ensure internalization of the liposomes. Results: In vitro uptake by AM or ATII was not influenced by the SP-B peptides. In vivo, SP-B1-25and Ser-SP-B1-25increased the uptake by AM whereas dSP-B1-25decreased the uptake. Neither SP-B1-25nor dSP-B1-25affected total uptake by ATII. The overall uptake by SP-B63-78variants was not changed. Conclusions: Surface-active synthetic SP-B peptides do not interfere with the normaluptake of surfactant by ATII. Copyrigh

Shared Care, Elder and Family Member Skills Used to Manage Burden

Aim. The aim of this paper is to further develop the construct of Shared Care by comparing and contrasting it to related research, and to show how the construct can be used to guide research and practice. Background. While researchers have identified negative outcomes for family caregivers caused by providing care, less is known about positive aspects of family care for both members of a family dyad. Understanding family care relationships is important to nurses because family participation in the care of chronically ill elders is necessary to achieve optimal outcomes from nursing interventions. A previous naturalistic inquiry identified a new construct, Shared Care, which was used to describe a family care interaction that contributed to positive care outcomes. Methods. A literature review was carried out using the databases Medline, CINAHL, and Psych-info and the keywords home care, care receiver, disability, family, communication, decision-making and reciprocity. The results of the review were integrated to suggest how Shared Care could be used to study care difficulties and guide interventions. Results. The literature confirmed the importance of dyad relationships in family care. Shared Care extended previous conceptualizations of family care by capturing three critical components: communication, decision-making, and reciprocity. Shared Care provides a structure to expand the conceptualization of family care to include both members of a care dyad and account for positive and negative aspects of care. Conclusions. The extended view provided by the construct of Shared Care offers practitioners and scholars tools to use in the context of our ageing population to improve the effectiveness of family care relationships

Development of a Prediction Model for Stress Fracture During an Intensive Physical Training Program:The Royal Marines Commandos

Background Stress fractures (SF) are one of the more severe overuse injuries in military training and therefore knowledge of potential risk factors is needed to assist in developing mitigating strategies. Purpose To develop a prediction model for risk of SF in Royal Marines (RM) recruits during an arduous military training program. Study Design Cohort study Methods 1,082 recruits (age range: 16-33 years) enrolled between September 2009 and July 2010, were prospectively followed through the 32-week RM training program. SF diagnosis was confirmed from a positive X-Ray or Magnetic Resonance Imaging (MRI) scan. Potential risk factors assessed at week-1 included recruit characteristics, anthropometric assessment, dietary supplement use, lifestyle habits, fitness assessment, blood samples, 25(OH)D, bone strength as measured by heel Broadband Ultrasound Attention (BUA), history of physical activity, and previous and current food intake. A logistic least absolute shrinkage selection operator (LASSO) regression with 10-fold cross-validation method was used to select potential predictors among 47 candidate variables. Model performance was assessed using measures of discrimination (c-index) and calibration. Bootstrapping was used for internal validation of the developed model and to quantify optimism. Results A total of 86 (8%) volunteer recruits presented with at least one SF during training. Twelve variables were identified as the most important risk factors of SF. Variables strongly associated with SF were age, body weight, pre-training weight bearing (WB) exercise, pre-training cycling and childhood intake of milk and milk products. The c-index for the prediction model was 0.73 (optimism-corrected c-index 0.68), which represents the model performance in future volunteers. Although 25(OH)D and VO2max had only a borderline statistical significant association with SF, the inclusion of these factors improved the performance of the model. Conclusion These findings will assist in identifying recruits at greater risk of SF during training, and support interventions to mitigate this injury risk. However, external validation of the model is still required.</p

Overriding water table control on managed peatland greenhouse gas emissions

Global peatlands store more carbon than is naturally present in the atmosphere1,2. However, many peatlands are under pressure from drainage-based agriculture, plantation development and fire, with the equivalent of around 3% of all anthropogenic greenhouse gases emitted from drained peatland3–5. Efforts to curb such emissions are intensifying through the conservation of undrained peatlands and rewetting of drained systems6. Here we report CO2 eddy covariance data from 16 locations and CH4 data from 41 locations in the British Isles, and combine them with published data from sites across all major peatland biomes. We find that the mean annual effective water-table depth (WTDe; that is, the average depth of the aerated peat layer) overrides all other ecosystem- and management-related controls on greenhouse gas fluxes. We estimate that every 10 cm of reduction in WTDe could reduce the net warming impact of CO2 and CH4 emissions (100-year Global Warming Potentials) by at least 3 t CO2e ha-1 yr-1, until WTDe is < 30 cm. Raising water levels further would continue to have a net cooling effect until WTDe is < 10 cm. Our results suggest that greenhouse gas emissions from peatlands drained for agriculture could be greatly reduced without necessarily halting their productive use. Halving WTDe in all drained agricultural peatlands, for example, could reduce emissions by the equivalent of over 1% of global anthropogenic emissions

Search for direct production of charginos and neutralinos in events with three leptons and missing transverse momentum in √s = 7 TeV pp collisions with the ATLAS detector

A search for the direct production of charginos and neutralinos in final states with three electrons or muons and missing transverse momentum is presented. The analysis is based on 4.7 fb−1 of proton–proton collision data delivered by the Large Hadron Collider and recorded with the ATLAS detector. Observations are consistent with Standard Model expectations in three signal regions that are either depleted or enriched in Z-boson decays. Upper limits at 95% confidence level are set in R-parity conserving phenomenological minimal supersymmetric models and in simplified models, significantly extending previous results

Jet size dependence of single jet suppression in lead-lead collisions at sqrt(s(NN)) = 2.76 TeV with the ATLAS detector at the LHC

Measurements of inclusive jet suppression in heavy ion collisions at the LHC provide direct sensitivity to the physics of jet quenching. In a sample of lead-lead collisions at sqrt(s) = 2.76 TeV corresponding to an integrated luminosity of approximately 7 inverse microbarns, ATLAS has measured jets with a calorimeter over the pseudorapidity interval |eta| < 2.1 and over the transverse momentum range 38 < pT < 210 GeV. Jets were reconstructed using the anti-kt algorithm with values for the distance parameter that determines the nominal jet radius of R = 0.2, 0.3, 0.4 and 0.5. The centrality dependence of the jet yield is characterized by the jet "central-to-peripheral ratio," Rcp. Jet production is found to be suppressed by approximately a factor of two in the 10% most central collisions relative to peripheral collisions. Rcp varies smoothly with centrality as characterized by the number of participating nucleons. The observed suppression is only weakly dependent on jet radius and transverse momentum. These results provide the first direct measurement of inclusive jet suppression in heavy ion collisions and complement previous measurements of dijet transverse energy imbalance at the LHC.Comment: 15 pages plus author list (30 pages total), 8 figures, 2 tables, submitted to Physics Letters B. All figures including auxiliary figures are available at http://atlas.web.cern.ch/Atlas/GROUPS/PHYSICS/PAPERS/HION-2011-02

Measurement of the polarisation of W bosons produced with large transverse momentum in pp collisions at sqrt(s) = 7 TeV with the ATLAS experiment

This paper describes an analysis of the angular distribution of W->enu and W->munu decays, using data from pp collisions at sqrt(s) = 7 TeV recorded with the ATLAS detector at the LHC in 2010, corresponding to an integrated luminosity of about 35 pb^-1. Using the decay lepton transverse momentum and the missing transverse energy, the W decay angular distribution projected onto the transverse plane is obtained and analysed in terms of helicity fractions f0, fL and fR over two ranges of W transverse momentum (ptw): 35 < ptw < 50 GeV and ptw > 50 GeV. Good agreement is found with theoretical predictions. For ptw > 50 GeV, the values of f0 and fL-fR, averaged over charge and lepton flavour, are measured to be : f0 = 0.127 +/- 0.030 +/- 0.108 and fL-fR = 0.252 +/- 0.017 +/- 0.030, where the first uncertainties are statistical, and the second include all systematic effects.Comment: 19 pages plus author list (34 pages total), 9 figures, 11 tables, revised author list, matches European Journal of Physics C versio