ProtocadherinX/Y, a Candidate Gene-Pair for Schizophrenia and Schizoaffective Disorder: A DHPLC Investigation of Gonomic Sequence

Protocadherin X and Protocadherin Y (PCDHX and PCDHY) are cell-surface adhesion molecules expressed predominantly in the brain. The PCDHX/Y gene-pair was generated by an X-Y translocation approximately 3 million years ago (MYA) that gave rise to the Homo sapiens-specific region of Xq21.3 and Yp11.2 homology. Genes within this region are expected to code for sexually dimorphic human characteristics, including, for example, cerebral asymmetry a dimension of variation that has been suggested is relevant to psychosis. We examined differences in patients with schizophrenic or schizoaffective psychosis in the genomic sequence of PCDHX and PCDHY in coding and adjacent intronic sequences using denaturing high performance liquid chromatography (DHPLC). Three coding variants were detected in PCDHX and two in PCDHY. However, neither the coding variants nor the intronic polymorphisms could be related to psychosis within families. Low sequence variation suggests selective pressure against sequence change in modern humans in contrast to the structural chromosomal and sequence changes including fixed X-Y differences that occurred in this region earlier in hominid evolution. Our findings exclude sequence variation in PCDHX/Y as relevant to the aetiology of psychosis. However, we note the unusual status of this region with respect to X-inactivation. Further investigation of the epigenetic control of PCDHX/Y in relation to psychosis is warran

Factor structure and familiality of first-rank symptoms in sibling pairs with schizophrenia and schizoaffective disorder

Background Since their introduction as diagnostic criteria by Schneider in 1937, nuclear symptoms have played a key role in concepts of schizophrenia, but their relationship to each other and to genetic predisposition has been unclear. Aims To ascertain the factor structure and familiality of nuclear symptoms. Methods Nuclear (Schneiderian) symptoms were extracted from case notes and interviews in a study of 103 sibling pairs with DSM-III-R schizophrenia or schizoaffective disorder. Results Principal components analysis demonstrated two major factors : one, accounting for about 50% of the variance, groups thought withdrawal, insertion and broadcasting, with delusions of control ; and the second, accounting for <20% of the variance, groups together third-person voices, thought echo and running commentary. Factor I was significantly correlated within sibling pairs. Conclusions The correlation within sibling pairs suggests that, contrary to the conclusion of some previous studies, some nuclear symptoms do show a degree of familiality and therefore perhaps heritability

Debris cover and surface melt at a temperate maritime alpine glacier: Franz Josef Glacier, New Zealand

Melt rates on glaciers are strongly influenced by the presence of supraglacial debris, which can either enhance or reduce ablation relative to bare ice. Most recently, Franz Josef Glacier has entered into a phase of strong retreat and downwasting, with the increasing emergence of debris on the surface in the ablation zone. Previously at Franz Josef Glacier, melt has only been measured on bare ice. During February 2012, a network of 11 ablation stakes was drilled into locations of varying supraglacial debris thickness on the lower glacier. Mean ablation rates over 9 days varied over the range 1.2–10.1 cm d−1, and were closely related to debris thickness. Concomitant observations of air temperature allowed the application of a degree-day approach to the calculation of melt rates, with air temperature providing a strong indicator of melt. Degree-day factors (d f) varied over the range 1.1–8.1 mm d−1 °C−1 (mean of 4.4 mm d−1 °C−1), comparable with rates reported in other studies. Mapping of the current debris cover revealed 0.7 km2 of the 4.9 km2 ablation zone surface was debris-covered, with thicknesses ranging 1–50 cm. Based on measured debris thicknesses and d f, ablation on debris-covered areas of the glacier is reduced by a total of 41% which equates to a 6% reduction in melt overall across the entire ablation zone. This study highlights the usefulness of a short-term survey to gather representative ablation data, consistent with numerous overseas ablation studies on debris-covered glaciers

Coastal proximity and mental health among urban adults in England: The moderating effect of household income

This is the final version. Available on open access from Elsevier via the DOI in this recordAfter adjusting for covariates, self-reported general health in England is higher among populations living closer to the coast, and the association is strongest amongst more deprived groups. We explored whether similar findings were present for mental health using cross-sectional data for urban adults in the Health Survey for England (2008-2012, N ≥25,963). For urban adults, living ≤1 km from the coast, in comparison to >50 km, was associated with better mental health as measured by the GHQ12. Stratification by household income revealed this was only amongst the lowest-earning households, and extended to ≤5 km. Our findings support the contention that, for urban adults, coastal settings may help to reduce health inequalities in England.National Institute for Health Research (NIHR)European Union Horizon 202

Experience d'introduction de l'implant contraceptif Jadelle® en Cote D'Ivoire: Analyse de l’efficacité, des incidents et des effets indésirables chez 300 femmes.

Les implants contraceptifs sont presque inconnus en Côte d’Ivoire comme méthode contraceptive. L’avènement du Jadelle® pourrait contribuer à promouvoir cette méthode de contraception. L’objectif était d’apprécier la possibilité d’introduction de l’implant Jadelle® en Côte d’Ivoire comme méthode contraceptive. Il s’agissait d’une étude prospective pilote qui s’est déroulée du 1er au 31 Mai 2009 dans 10 centres de sanitaires de l’Association Ivoirienne pour le Bien Être Familial (AIBEF). Elle a concerné 300 utilisatrices du Jadelle® comme méthode contraceptive depuis 12 mois. Notre étude a consisté à évaluer l’efficacité, les effets indésirables et les incidents de la contraception par l’implant Jadelle®. La planification familiale était le principal motif de la contraception, soit 96%. Aucune grossesse n’a été rapportée. Des effets secondaires ont été signalés chez 18% des patientes et étaient dominés par les métrorragies (33,3%). Le désir de retrait s’est exprimé chez 05 patientes (01,7%), majoritairement 6 mois après la pose (60%), pour désir de grossesse (60%). Deux (02) cas d’infection du site et un (01) cas de rejet des bâtonnets ont été enregistrés. Le Jadelle® est une méthode contraceptive efficace. La réussite de son introduction en Côte d’Ivoire passe par une formation de tout le personnel soignant sur les méthodes d’introduction et de retrait, et la facilitation de son accessibilité.MOTS CLES: Contraception - Implant Jadelle® - Côte d’Ivoir

Generalisation in environmental sound classification : the ‘making sense of sounds’ data set and challenge

Humans are able to identify a large number of environmental sounds and categorise them according to high-level semantic categories, e.g. urban sounds or music. They are also capable of generalising from past experience to new sounds when applying these categories. In this paper we report on the creation of a data set that is structured according to the top-level of a taxonomy derived from human judgements and the design of an associated machine learning challenge, in which strong generalisation abilities are required to be successful. We introduce a baseline classification system, a deep convolutional network, which showed strong performance with an average accuracy on the evaluation data of 80.8%. The result is discussed in the light of two alternative explanations: An unlikely accidental category bias in the sound recordings or a more plausible true acoustic grounding of the high-level categories

An investigation of fingerstick blood collection for pointof- care HIV-1 viral load monitoring in South Africa

Background: Viral load (VL) quantification is an important tool in determining newly developed drug resistance or problems with adherence to antiretroviral therapy (ART) in HIV-positive patients. VL monitoring is becoming the standard of care in many resource-limited settings. Testing in resource-limited settings may require sampling by fingerstick because of general shortages of skilled phlebotomists and the expense of venepuncture supplies and problems with their distribution.Objective: To assess the feasibility and ease of collecting 150 μL capillary blood needed for the use of a novel collection device following a classic fingerstick puncture.Methods: Patients were recruited by the study nurse upon arrival for routine ART monitoring at the Themba Lethu Clinic in Johannesburg, South Africa. Each step of the fingerstick and blood collection protocol was observed, and their completion or omission was recorded.Results: One hundred and three patients consented to the study, of whom three were excluded owing to the presence of callouses. From a total of 100 patients who consented and were enrolled, 98% of collection attempts were successful and 86% of participants required only one fingerstick to successfully collect 150 μL capillary blood. Study nurse adherence to the fingerstick protocol revealed omissions in several steps that may lower the success rate of capillary blood collection and reduce the performance of a subsequent VL assay.Conclusion: The findings of this study support the feasibility of collecting 150 μL of capillary blood via fingerstick for point-of-care HIV-1 VL testing in a resource-limited setting

Experimental observation of nonlinear Thomson scattering

A century ago, J. J. Thomson showed that the scattering of low-intensity light by electrons was a linear process (i.e., the scattered light frequency was identical to that of the incident light) and that light's magnetic field played no role. Today, with the recent invention of ultra-high-peak-power lasers it is now possible to create a sufficient photon density to study Thomson scattering in the relativistic regime. With increasing light intensity, electrons quiver during the scattering process with increasing velocity, approaching the speed of light when the laser intensity approaches 10^18 W/cm^2. In this limit, the effect of light's magnetic field on electron motion should become comparable to that of its electric field, and the electron mass should increase because of the relativistic correction. Consequently, electrons in such high fields are predicted to quiver nonlinearly, moving in figure-eight patterns, rather than in straight lines, and thus to radiate photons at harmonics of the frequency of the incident laser light, with each harmonic having its own unique angular distribution. In this letter, we report the first ever direct experimental confirmation of these predictions, a topic that has previously been referred to as nonlinear Thomson scattering. Extension of these results to coherent relativistic harmonic generation may eventually lead to novel table-top x-ray sources.Comment: including 4 figure

Future possibilities in the prevention of breast cancer: Breast cancer prevention trials

The available results from breast cancer chemoprevention trials are reviewed. Four trials using tamoxifen have been performed, of which three have reported efficacy results. A fifth trial using raloxifene has also been reported. The largest tamoxifen trial showed approximately 50% reduction in breast cancer incidence in the short term, but the two smaller trials did not find any reduction. Greater agreement exists for side effects; incidences of thromboembolic disease and endometrial cancers are raised approximately threefold when tamoxifen is used for 5 years. The possible reasons for the discrepancy in breast cancer reduction are explored. A review of trial parameters does not clearly explain this difference, and a meta-analysis indicates that all results are compatible with a 40% reduction in short-term incidence. Several important questions remain regarding the clinical implications of this result, including the effect on mortality, the appropriate risk groups for chemoprevention and the long-term effects on incidence. Continued follow up of these trials is crucial for resolving these issues

Radical palliative surgery: new limits to pursue

This case report describes the radical subtotal palliative resection of a massive recurrent desmoid tumor encompassing the abdomen, pelvis, and groin in a child who was 13 years old at the time of initial resection. Given the extensive distribution of the tumor en bloc resection, which is the standard treatment of desmoid tumors, would have meant performing a hemipelvectomy and repair of a large abdominal wall defect, likely with skin grafts and mesh. The patient’s personal goals however were to alleviate the pain and limited mobility that would allow her to re-attend high school and appear normal to her peers. Therefore, palliative surgery was pursued and currently the patient is 5 years out from her last surgery doing well. We believe that the option of surgical palliation in this case was warranted and should be an option for similar cases in the future