How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling

Lambda-proton correlations in relativistic heavy ion collisions

The prospect of using lambda-proton correlations to extract source sizes in relativistic heavy ion collisions is investigated. It is found that the strong interaction induces a large peak in the correlation function that provides more sensitive source size measurements than two-proton correlations under some circumstances. The prospect of using lambda-proton correlations to measure the time lag between lambda and proton emissions is also studied.Comment: 4 pages, 3 figure, revtex style. Two short paragraphs are added at referees' recommendations. Phys. Rev. Lett. in pres

Shifting Winds: Using Ancestry DNA to Explore Multiracial Individuals\u27 Patterns of Articulating Racial Identity

This study explored how genotype information affects identification narratives of multiracial individuals. Twenty-one multiracial individuals completed individual interviews before and after receiving a DNA analysis to clarify their genetically based racial ancestry. Based on results, this article proposes patterns of articulating racial identity by multiracial individuals. Four patterns extend evolving research in multiracial identification, namely (1) the individual articulates a monoracial identity; (2) the individual articulates one identity, but this can shift in response to various conditions; (3) the individual articulates an extraracial identity, opting out of traditional categories applied to race; and (4) the person distinguishes traditional categories of race from culture and owns the two identities in different ways. Implications of these findings are discussed. First, adding new ancestry DNA information further muddles the neat categories of race, consistent with the view of race as socially constructed. Second, results emphasize the fluidity of identification for multiracial individuals. Third, DNA information challenges the neat percentages people tend to associate with their backgrounds. Particularly for younger multiracial individuals, there was less of a sense that race was a real thing and more that culture played a big part in how they saw themselves

Drivers for Rift Valley fever emergence in Mayotte: A Bayesian modelling approach

Rift Valley fever (RVF) is a major zoonotic and arboviral hemorrhagic fever. The conditions leading to RVF epidemics are still unclear, and the relative role of climatic and anthropogenic factors may vary between ecosystems. Here, we estimate the most likely scenario that led to RVF emergence on the island of Mayotte, following the 2006–2007 African epidemic. We developed the first mathematical model for RVF that accounts for climate, animal imports and livestock susceptibility, which is fitted to a 12-years dataset. RVF emergence was found to be triggered by the import of infectious animals, whilst transmissibility was approximated as a linear or exponential function of vegetation density. Model forecasts indicated a very low probability of virus endemicity in 2017, and therefore of re-emergence in a closed system (i.e. without import of infected animals). However, the very high proportion of naive animals reached in 2016 implies that the island remains vulnerable to the import of infectious animals. We recommend reinforcing surveillance in livestock, should RVF be reported is neighbouring territories. Our model should be tested elsewhere, with ecosystem-specific data

Roux-en-Y Gastric Bypass Surgery in the management of Familial Partial 2 Lipodystrophy Type 1 (FPLD1)

Context: Familial partial lipodystrophy type 1 (FPLD1) is an extreme form of central adiposity, with peripheral lipodystrophy associated with severe manifestations of the metabolic syndrome, often poorly responsive to standard therapeutic approaches. Body mass index in FPLD1 varies but, in many cases, is below the level at which metabolic surgery is usually considered as a therapeutic option. Design: We detailed the metabolic response to gastric bypass surgery of three patients with FPLD1, refractory to medical therapy. Results: Roux-en-Y gastric bypass (RYGB) was associated with weight loss and substantial improvements in glycemic control and insulin sensitivity. All three patients were able to stop using insulin. Glucose tolerance testing in one patient demonstrated an increase in L-cell–derived gut hormone responses postoperatively. Conclusion: RYGB surgery substantially improved glycemic control in three patients with FPLD1, two of whom had body mass indices below 30 kg/m². RYGB should be considered in patients with partial lipodystrophy and refractory metabolic disease.This work was supported by Wellcome Trust Grants WT106262, WT098498, WT095515, and WT107064 (to F.G., G.R., R.K.S., S.O., and D.B.S.), the Medical Research Council Metabolic Disease Unit, the National Institute for Health Research Cambridge Biomedical Research Centre, and the National Institute for Health Research Rare Disease Translational Research Collaboration

Measurement of Inclusive Spin Structure Functions of the Deuteron

We report the results of a new measurement of spin structure functions of the deuteron in the region of moderate momentum transfer ($Q^2$ = 0.27 -- 1.3 (GeV/c)$^2$) and final hadronic state mass in the nucleon resonance region ($W$ = 1.08 -- 2.0 GeV). We scattered a 2.5 GeV polarized continuous electron beam at Jefferson Lab off a dynamically polarized cryogenic solid state target ($^{15}$ND$_3$) and detected the scattered electrons with the CEBAF Large Acceptance Spectrometer (CLAS). From our data, we extract the longitudinal double spin asymmetry $A_{||}$ and the spin structure function $g_1^d$. Our data are generally in reasonable agreement with existing data from SLAC where they overlap, and they represent a substantial improvement in statistical precision. We compare our results with expectations for resonance asymmetries and extrapolated deep inelastic scaling results. Finally, we evaluate the first moment of the structure function $g_1^d$ and study its approach to both the deep inelastic limit at large $Q^2$ and to the Gerasimov-Drell-Hearn sum rule at the real photon limit ($Q^2 \to 0$). We find that the first moment varies rapidly in the $Q^2$ range of our experiment and crosses zero at $Q^2$ between 0.5 and 0.8 (GeV/c)$^2$, indicating the importance of the $\Delta$ resonance at these momentum transfers.Comment: 13 pages, 8 figures, ReVTeX 4, final version as accepted by Phys. Rev.

Deeply virtual and exclusive electroproduction of omega mesons

The exclusive omega electroproduction off the proton was studied in a large kinematical domain above the nucleon resonance region and for the highest possible photon virtuality (Q2) with the 5.75 GeV beam at CEBAF and the CLAS spectrometer. Cross sections were measured up to large values of the four-momentum transfer (-t < 2.7 GeV2) to the proton. The contributions of the interference terms sigma_TT and sigma_TL to the cross sections, as well as an analysis of the omega spin density matrix, indicate that helicity is not conserved in this process. The t-channel pi0 exchange, or more generally the exchange of the associated Regge trajectory, seems to dominate the reaction gamma* p -> omega p, even for Q2 as large as 5 GeV2. Contributions of handbag diagrams, related to Generalized Parton Distributions in the nucleon, are therefore difficult to extract for this process. Remarkably, the high-t behaviour of the cross sections is nearly Q2-independent, which may be interpreted as a coupling of the photon to a point-like object in this kinematical limit.Comment: 15 pages,19 figure

Temperatures of Exploding Nuclei

Breakup temperatures in central collisions of 197Au + 197Au at bombarding energies E/A = 50 to 200 MeV were determined with two methods. Isotope temperatures, deduced from double ratios of hydrogen, helium, and lithium isotopic yields, increase monotonically with bombarding energy from 5 MeV to 12 MeV, in qualitative agreement with a scenario of chemical freeze-out after adiabatic expansion. Excited-state temperatures, derived from yield ratios of states in 4He, 5Li, 6Li, and 8Be, are about 5 MeV, independent of the projectile energy, and seem to reflect the internal temperature of fragments at their final separation from the system. PACS numbers: 25.70.Mn, 25.70.Pq, 25.75.-qComment: 10 pages, RevTeX with 4 included figures; Also available from http://www-kp3.gsi.de/www/kp3/aladin_publications.htm

Measurement of the Polarized Structure Function σLT′\sigma_{LT^\prime} for p(e⃗,e′π+)np(\vec{e},e'\pi^+)n in the Δ(1232)\Delta(1232) Resonance Region

The polarized longitudinal-transverse structure function $\sigma_{LT^\prime}$ has been measured using the $p(\vec e,e'\pi^+)n$ reaction in the $\Delta(1232)$ resonance region at $Q^2=0.40$ and 0.65 GeV$^2$. No previous $\sigma_{LT^\prime}$ data exist for this reaction channel. The kinematically complete experiment was performed at Jefferson Lab with the CEBAF Large Acceptance Spectrometer (CLAS) using longitudinally polarized electrons at an energy of 1.515 GeV. A partial wave analysis of the data shows generally better agreement with recent phenomenological models of pion electroproduction compared to the previously measured $\pi^0 p$ channel. A fit to both $\pi^0 p$ and $\pi^+ n$ channels using a unitary isobar model suggests the unitarized Born terms provide a consistent description of the non-resonant background. The $t$-channel pion pole term is important in the $\pi^0 p$ channel through a rescattering correction, which could be model-dependent.Comment: 6 pages, LaTex, 5 eps figures: Submitted to PRC/Brief Reports v2: Updated referenc

Temperature measurement of fragment emitting systems in Au+Au 35 MeV/nucleon collisions

We report on the results of experiments performed to investigate the Au1Au 35 MeV/nucleon reaction. The reaction products generated in the disassembly of the unique source formed in central collisions and those coming from the decay of the quasiprojectile in peripheral and midperipheral ones ~five different impact parameters! were identified through a careful data selection based on the study of energy and angular distributions. The excitation energies of the fragment sources have been extracted through a calorimetric method and by means of a comparison with model calculations. The nuclear temperatures of these decaying systems have been measured from the relative isotopic abundances and, also for central collisions, from the relative populations of excited states. The temperatures of the quasiprojectile disassembling systems are slowly increasing going towards smaller impact parameter. The relationship between temperature and excitation energy seems to be almost independent of the characteristics of the emitting source. The extracted caloric curve shows a slow monotonic increase with increasing excitation energy. A comparison with data derived from Au fragmentation at much higher incident energies is discussed. @S0556-2813~98!04408-2