Inherited polyglutamine spinocerebellar ataxias in South Africa

Objective. To determine the frequency and distribution ofpolyglutamine spinocerebellar ataxias (SCAs) from referrals over a24-year period to the National Health Laboratory Service (NHLS)in South Africa (SA).Methods. Paper-based clinical reports in the University ofCape Town laboratory and the NHLS electronic patient recorddatabase spanning a 24-year period were mined for informationregarding the molecular diagnosis, ethnicity and CAG repeatlength for individuals referred for molecular genetic testing for thepolyglutamine SCAs.Results. SCA1 and 7 are the most frequent types of polyglutamineSCA in the SA patient population, followed by SCA2, 3 and 6.SCA1 is the most common type in the coloured, white and Indianpopulations, whereas the majority of indigenous black Africanpatients are affected with SCA7 and 2. Of individuals tested, 22%were found to be positive for one of the polyglutamine SCAs.Conclusion. Although trends in the frequency and distributionof the polyglutamine SCAs in SA have not changed significantlysince our previous study in 2003, they differ remarkably from thosereported elsewhere, and reflect the unique genetic and demographicbackground of SA. The provision of accurate and complete patientinformation and family history is crucial to the diagnostic process,to enable comprehensive epidemiological studies and assist indeveloping therapeutic and patient management strategies

Participatory Geographic Information Systems as an Organizational Platform for the Integration of Traditional and Scientific Knowledge in Contemporary Fire and Fuels Management

Traditional knowledge about fire and its effects held by indigenous people, who are connected to specific landscapes, holds promise for informing contemporary fire and fuels management strategies and augmenting knowledge and information derived from western science. In practice, however, inadequate means to organize and communicate this traditional knowledge with scientists and managers can limit its consideration in decisions, requiring novel approaches to interdisciplinary and cross-cultural communication and collaboration. We propose that Participatory Geographic Information Systems (PGIS) is one platform for the assemblage and communication of traditional knowledge vital to fire and fuels management, while preserving linkages to broader cultural contexts. We provide summaries of four preliminary case studies in the Intermountain West of North America to illustrate different potential applications of a PGIS tool in this context and describe some remaining challenges. Management and Policy Implications: Participatory Geographic Information Systems (PGIS) can offer a powerful approach for enhancing current decisionmaking by allowing for the integration of traditional and scientific knowledge systems with spatial environmental data in an interactive participatory process. Integrated data sets can allow traditional and scientific knowledge experts to share, explore, manage, analyze, and interpret multidimensional data in a common spatial context to develop more informed management decisions. Such combined data sets could provide a more comprehensive assessment of fire-related ecological change than is currently used in decisionmaking and enhance inclusion of effects on local resource utility values and areas of cultural significance. The use of a PGIS interface creates opportunities for traditional knowledge holders to share information and potential prescriptions while maintaining confidentiality. Knowledge integration efforts using PGIS as an organizational tool would help to bridge the communication gap that commonly exists between scientists, managers, and traditional knowledge holders as ecosystems continue to be altered through processes of land management and climate change

Optimal search strategies for identifying sound clinical prediction studies in EMBASE

BACKGROUND: Clinical prediction guides assist clinicians by pointing to specific elements of the patient's clinical presentation that should be considered when forming a diagnosis, prognosis or judgment regarding treatment outcome. The numbers of validated clinical prediction guides are growing in the medical literature, but their retrieval from large biomedical databases remains problematic and this presents a barrier to their uptake in medical practice. We undertook the systematic development of search strategies ("hedges") for retrieval of empirically tested clinical prediction guides from EMBASE. METHODS: An analytic survey was conducted, testing the retrieval performance of search strategies run in EMBASE against the gold standard of hand searching, using a sample of all 27,769 articles identified in 55 journals for the 2000 publishing year. All articles were categorized as original studies, review articles, general papers, or case reports. The original and review articles were then tagged as 'pass' or 'fail' for methodologic rigor in the areas of clinical prediction guides and other clinical topics. Search terms that depicted clinical prediction guides were selected from a pool of index terms and text words gathered in house and through request to clinicians, librarians and professional searchers. A total of 36,232 search strategies composed of single and multiple term phrases were trialed for retrieval of clinical prediction studies. The sensitivity, specificity, precision, and accuracy of search strategies were calculated to identify which were the best. RESULTS: 163 clinical prediction studies were identified, of which 69 (42.3%) passed criteria for scientific merit. A 3-term strategy optimized sensitivity at 91.3% and specificity at 90.2%. Higher sensitivity (97.1%) was reached with a different 3-term strategy, but with a 16% drop in specificity. The best measure of specificity (98.8%) was found in a 2-term strategy, but with a considerable fall in sensitivity to 60.9%. All single term strategies performed less well than 2- and 3-term strategies. CONCLUSION: The retrieval of sound clinical prediction studies from EMBASE is supported by several search strategies

In-Flight Transmission of SARS-CoV-2.

Four persons with severe acute respiratory syndrome coronavirus 2 infection had traveled on the same flight from Boston, Massachusetts, USA, to Hong Kong, China. Their virus genetic sequences are identical, unique, and belong to a clade not previously identified in Hong Kong, which strongly suggests that the virus can be transmitted during air travel

Time to go global: a consultation on global health competencies for postgraduate doctors

BACKGROUND: Globalisation is having profound impacts on health and healthcare. We solicited the views of a wide range of stakeholders in order to develop core global health competencies for postgraduate doctors. METHODS: Published literature and existing curricula informed writing of seven global health competencies for consultation. A modified policy Delphi involved an online survey and face-to-face and telephone interviews over three rounds. RESULTS: Over 250 stakeholders participated, including doctors, other health professionals, policymakers and members of the public from all continents of the world. Participants indicated that global health competence is essential for postgraduate doctors and other health professionals. Concerns were expressed about overburdening curricula and identifying what is 'essential' for whom. Conflicting perspectives emerged about the importance and relevance of different global health topics. Five core competencies were developed: (1) diversity, human rights and ethics; (2) environmental, social and economic determinants of health; (3) global epidemiology; (4) global health governance; and (5) health systems and health professionals. CONCLUSIONS: Global health can bring important perspectives to postgraduate curricula, enhancing the ability of doctors to provide quality care. These global health competencies require tailoring to meet different trainees' needs and facilitate their incorporation into curricula. Healthcare and global health are ever-changing; therefore, the competencies will need to be regularly reviewed and updated

Toward reassessing data-deficient species

One in six species (13,465 spp.) on the IUCN Red List are currently classified as Data Deficient due to lack of information on their taxonomy, population status or impact of threats. Despite the chance that many are at high risk of extinction, Data Deficient species are typically excluded from global and local conservation priorities as well as funding schemes. The number of Data Deficient species will greatly increase as the Red List becomes more inclusive of poorly known and speciose groups. A strategic approach is urgently needed to enhance the conservation value of Data Deficient assessments. To develop this, we reviewed 2,879 Data Deficient assessments in six animal groups and identified eight main justifications for assigning Data Deficient status (type series, few records, old records, uncertain provenance, uncertain population status and/or distribution, uncertain threats, taxonomic uncertainty, new species). Assigning a consistent set of justification tags to species classified as Data Deficient is a simple way to achieve more strategic assessments. Such tags will: clarify the causes of data deficiency; facilitate the prediction of extinction risk; facilitate comparisons of data deficiency among taxonomic groups; and help prioritize species for re-assessment. With renewed efforts, it could be straightforward to prevent thousands of Data Deficient species slipping unnoticed towards extinction

Photo-reverberation mapping of a protoplanetary accretion disk around a T Tauri star

This is the final version. Available from the American Astronomical Society via the DOI in this recordTheoretical models and spectroscopic observations of newborn stars suggest that protoplantary disks have an inner "wall" at a distance set by the disk interaction with the star. Around T Tauri stars, the size of this disk hole is expected to be on a 0.1 au scale that is unresolved by current adaptive optics imaging, though some model-dependent constraints have been obtained by near-infrared interferometry. Here we report the first measurement of the inner disk wall around a solar-mass young stellar object, YLW 16B in the ρ Ophiuchi star-forming region, by detecting the light-travel time of the variable radiation from the stellar surface to the disk. Consistent time lags were detected on two nights, when the time series in H (1.6 μm) and K (2.2 μm) bands were synchronized while the 4.5 μm emission lagged by 74.5 ± 3.2 s. Considering the nearly edge-on geometry of the disk, the inner rim should be 0.084 au from the protostar on average, with an error of order 0.01 au. This size is likely larger than the range of magnetospheric truncations and consistent with an optically and geometrically thick disk front at the dust sublimation radius at ∼1500 K. The widths of the cross-correlation functions between the data in different wavebands place possible new constraints on the geometry of the disk.National Science Foundation (NSF

Prescribing practices of primary-care veterinary practitioners in dogs diagnosed with bacterial pyoderma

Concern has been raised regarding the potential contributions of veterinary antimicrobial use to increasing levels of resistance in bacteria critically important to human health. Canine pyoderma is a frequent, often recurrent diagnosis in pet dogs, usually attributable to secondary bacterial infection of the skin. Lesions can range in severity based on the location, total area and depth of tissue affected and antimicrobial therapy is recommended for resolution. This study aimed to describe patient signalment, disease characteristics and treatment prescribed in a large number of UK, primary-care canine pyoderma cases and to estimate pyoderma prevalence in the UK vet-visiting canine population

Multilevel Deconstruction of the In Vivo Behavior of Looped DNA-Protein Complexes

Protein-DNA complexes with loops play a fundamental role in a wide variety of cellular processes, ranging from the regulation of DNA transcription to telomere maintenance. As ubiquitous as they are, their precise in vivo properties and their integration into the cellular function still remain largely unexplored. Here, we present a multilevel approach that efficiently connects in both directions molecular properties with cell physiology and use it to characterize the molecular properties of the looped DNA-lac repressor complex while functioning in vivo. The properties we uncover include the presence of two representative conformations of the complex, the stabilization of one conformation by DNA architectural proteins, and precise values of the underlying twisting elastic constants and bending free energies. Incorporation of all this molecular information into gene-regulation models reveals an unprecedented versatility of looped DNA-protein complexes at shaping the properties of gene expression.Comment: Open Access article available at http://www.plosone.org/article/fetchArticle.action?articleURI=info%3Adoi%2F10.1371%2Fjournal.pone.000035