Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Background Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. Methods We report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. Results Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB’s atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. Conclusions Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed

The Dark Sides of Social Policy: From Neoliberalism to Resurgent Right-wing Populism

This Forum Debate explores the confluence of neoliberal, populist, conservative and reactionary influences on contemporary ideologies and practices of social policy, with a focus on the poorer peripheries of global

Giant sponge grounds of Central Arctic seamounts are associated with extinct seep life

The Central Arctic Ocean is one of the most oligotrophic oceans on Earth because of its sea-ice cover and short productive season. Nonetheless, across the peaks of extinct volcanic seamounts of the Langseth Ridge (87°N, 61°E), we observe a surprisingly dense benthic biomass. Bacteriosponges are the most abundant fauna within this community, with a mass of 460 g C m-2 and an estimated carbon demand of around 110 g C m-2 yr-1, despite export fluxes from regional primary productivity only sufficient to provide <1% of this required carbon. Observed sponge distribution, bulk and compound-specific isotope data of fatty acids suggest that the sponge microbiome taps into refractory dissolved and particulate organic matter, including remnants of an extinct seep community. The metabolic profile of bacteriosponge fatty acids and expressed genes indicate that autotrophic symbionts contribute significantly to carbon assimilation. We suggest that this hotspot ecosystem is unique to the Central Arctic and associated with extinct seep biota, once fueled by degassing of the volcanic mounts

Ludwig Koch and the Music of Nature

Ludwig Koch was a pioneer of outside broadcast, natural history recording in the first half of the 20th century. This programme explores his methods, techniques and personality through archive recordings and interviews, and includes attempts t recreating his experiments using modern equipment

Increased noise levels have different impacts on the anti-predator behaviour of two sympatric fish species.

types: Journal ArticleCopyright: © 2014 Voellmy et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Animals must avoid predation to survive and reproduce, and there is increasing evidence that man-made (anthropogenic) factors can influence predator-prey relationships. Anthropogenic noise has been shown to have a variety of effects on many species, but work investigating the impact on anti-predator behaviour is rare. In this laboratory study, we examined how additional noise (playback of field recordings of a ship passing through a harbour), compared with control conditions (playback of recordings from the same harbours without ship noise), affected responses to a visual predatory stimulus. We compared the anti-predator behaviour of two sympatric fish species, the three-spined stickleback (Gasterosteus aculeatus) and the European minnow (Phoxinus phoxinus), which share similar feeding and predator ecologies, but differ in their body armour. Effects of additional-noise playbacks differed between species: sticklebacks responded significantly more quickly to the visual predatory stimulus during additional-noise playbacks than during control conditions, while minnows exhibited no significant change in their response latency. Our results suggest that elevated noise levels have the potential to affect anti-predator behaviour of different species in different ways. Future field-based experiments are needed to confirm whether this effect and the interspecific difference exist in relation to real-world noise sources, and to determine survival and population consequences.University of BristolBasler Stiftung für Biologische ForschungDefr

Prediction of grip and key pinch strength in 978 healthy subjects

<p>Abstract</p> <p>Background</p> <p>Hand strength is an important independent surrogate parameter to assess outcome and risk of morbidity and mortality. This study aimed to determine the predictive power of cofactors and to predict population-based normative grip and pinch strength.</p> <p>Methods</p> <p>A representative population survey was used as the basis for prediction analyses (n = 978). Bivariate relationships between grip/pinch strengths of the dominate hand were explored by means of all relevant mathematical functions to maximize prediction. The resulting best functions were combined into a multivariate regression.</p> <p>Results</p> <p>Polynoms (up to the third degree) were the best predictive functions. On the bivariate level, height was best correlated to grip (46.2% explained variance) and pinch strength (37.7% explained variance) in a linear relationship, followed by sex, age, weight, and occupational demand on the hand. Multivariate regression provided predicted values close to the empirical ones explaining 76.6% of the variance for grip strength and 67.7% for pinch strength.</p> <p>Conclusion</p> <p>The five easy-to-measure cofactors sex, age, body height, categorized occupational demand on the hand, and body weight provide a highly accurate prediction of normative grip and pinch strength.</p

Reflections: OD or Not OD that is the Question! A Constructivist's Thoughts on the Changing Nature of Change

The landscape of organization development (OD) has changed significantly over the last several decades. This article provides a broad commentary on these changes. In particular, it offers a critique of 'current OD' in terms of the marginalization of materiality in discourse-based OD techniques and the neglect of problem-centred, diagnostic approaches in favour of solution-driven, emergent approaches. The future of OD is also explored in relation to the scope for meaningful 'bottom-up OD' (i.e. employee-instigated change) and 'outside-in OD' (i.e. involving a range of non-organizational stakeholders). © 2013 Taylor & Francis

Altering gait by way of stimulation of the plantar surface of the foot: the immediate effect of wearing textured insoles in older fallers

Background: Evidence suggests that textured insoles can alter gait and standing balance by way of enhanced plantar tactile stimulation. However, to date, this has not been explored in older people at risk of falling. This study investigated the immediate effect of wearing textured insoles on gait and double-limb standing balance in older fallers.Methods: Thirty older adults >65 years (21 women, mean [SD] age 79.0 [7.1]), with self-reported history of ≥2 falls in the previous year, conducted tests of level-ground walking over 10 m (GAITRite system), and double-limb standing with eyes open and eyes closed over 30 seconds (Kistler force platform) under two conditions: wearing textured insoles (intervention) and smooth (control) insoles in their usual footwear.Results: Wearing textured insoles caused significantly lower gait velocity (P = 0.02), step length (P = 0.04) and stride length (P = 0.03) compared with wearing smooth insoles. No significant differences were found in any of the balance parameters (P > 0.05).Conclusions: A textured insole worn by older adults with a history of falls significantly lowers gait velocity, step length and stride length, suggesting that this population may not have an immediate benefit from this type of intervention. The effects of prolonged wear remain to be investigated

Operationalizing frailty among older residents of assisted living facilities

<p>Abstract</p> <p>Background</p> <p>Frailty in later life is viewed as a state of heightened vulnerability to poor outcomes. The utility of frailty as a measure of vulnerability in the assisted living (AL) population remains unexplored. We examined the feasibility and predictive accuracy of two different interpretations of the Cardiovascular Health Study (CHS) frailty criteria in a population-based sample of AL residents.</p> <p>Methods</p> <p>CHS frailty criteria were operationalized using two different approaches in 928 AL residents from the Alberta Continuing Care Epidemiological Studies (ACCES). Risks of one-year mortality and hospitalization were estimated for those categorized as frail or pre-frail (compared with non-frail). The prognostic significance of individual criteria was explored, and the area under the ROC curve (AUC) was calculated for select models to assess the utility of frailty in predicting one-year outcomes.</p> <p>Results</p> <p>Regarding feasibility, complete CHS criteria could not be assessed for 40% of the initial 1,067 residents. Consideration of supplementary items for select criteria reduced this to 12%. Using absolute (CHS-specified) cut-points, 48% of residents were categorized as frail and were at greater risk for death (adjusted risk ratio [RR] 1.75, 95% CI 1.08-2.83) and hospitalization (adjusted RR 1.54, 95% CI 1.20-1.96). Pre-frail residents defined by absolute cut-points (48.6%) showed no increased risk for mortality or hospitalization compared with non-frail residents. Using relative cut-points (derived from AL sample), 19% were defined as frail and 55% as pre-frail and the associated risks for mortality and hospitalization varied by sex. Frail (but not pre-frail) women were more likely to die (RR 1.58 95% CI 1.02-2.44) and be hospitalized (RR 1.53 95% CI 1.25-1.87). Frail and pre-frail men showed an increased mortality risk (RR 3.21 95% CI 1.71-6.00 and RR 2.61 95% CI 1.40-4.85, respectively) while only pre-frail men had an increased risk of hospitalization (RR 1.58 95% CI 1.15-2.17). Although incorporating either frailty measure improved the performance of predictive models, the best AUCs were 0.702 for mortality and 0.633 for hospitalization.</p> <p>Conclusions</p> <p>Application of the CHS criteria for frailty was problematic and only marginally improved the prediction of select adverse outcomes in AL residents. Development and validation of alternative approaches for detecting frailty in this population, including consideration of female/male differences, is warranted.</p

Recent advances in organic synthesis using light-mediated n-heterocyclic carbene catalysis

The combination of photocatalysis with other ground state catalytic systems have attracted much attention recently due to the enormous synthetic potential offered by a dual activation mode. The use of N-heterocyclic carbene (NHC) as organocatalysts emerged as an important synthetic tool. Its ability to harness umpolung reactivity by the formation of the Breslow intermediate has been employed in the synthesis of thousands of biologically important compounds. However, the available coupling partners are relatively restricted, and its combination with other catalytic systems might improve its synthetic versatility. Thus, merging photoredox and N-heterocyclic carbene (NHC) catalysis has emerged recently as a powerful strategy to develop new transformations and give access to a whole new branch of synthetic possibilities. This review compiles the NHC catalyzed methods mediated by light, either in the presence or absence of an external photocatalyst, that have been described so far, and aims to give an accurate overview of the potential of this activation modeL.M. acknowledges the Autonomous Community of Madrid (CAM) for the financial support (PEJD-2019-PRE/AMB-16640 and SI1/PJI/ 2019-00237) and for an “Atracción de Talento Investigador” contract (2017-T2/AMB-5037