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

Haptic subitizing across the fingers

Numerosity judgments of small sets of items (≤ 3) are generally fast and errorfree, while response times and error rates increase rapidly for larger numbers of items. We investigated an efficient process used for judging small numbers of items (known as subitizing) in active touch. We hypothesized that this efficient process for numerosity judgment might be related to stimulus properties that allow for efficient (parallel) search. Our results showed that subitizing was not possible forraised lines among flat surfaces, whereas this type of stimulus could be detected in parallel over the fingers. However, subitizing was possible when the number of fingers touching a surface had to be judged while the other fingers were lowered in mid-air. In the latter case, the lack of tactile input is essential, since subitizing was not enabled by differences in proprioceptive information from the fingers. Our results show that subitizing using haptic information from the fingers is possible only whensome fingers receive tactile information while other fingers do not

Efficient and Unbiased Estimation of Population Size

Population sizing from still aerial pictures is of wide applicability in ecological and social sciences. The problem is long standing because current automatic detection and counting algorithms are known to fail in most cases, and exhaustive manual counting is tedious, slow, difficult to verify and unfeasible for large populations. An alternative is to multiply population density with some reference area but, unfortunately, sampling details, handling of edge effects, etc., are seldom described. For the first time we address the problem using principles of geometric sampling. These principles are old and solid, but largely unknown outside the areas of three dimensional microscopy and stereology. Here we adapt them to estimate the size of any population of individuals lying on an essentially planar area, e.g. people, animals, trees on a savanna, etc. The proposed design is unbiased irrespective of population size, pattern, perspective artifacts, etc. The implementation is very simple—it is based on the random superimposition of coarse quadrat grids. Also, an objective error assessment is often lacking. For the latter purpose the quadrat counts are often assumed to be independent. We demonstrate that this approach can perform very poorly, and we propose (and check via Monte Carlo resampling) a new theoretical error prediction formula. As far as efficiency, counting about 50 (100) individuals in 20 quadrats, can yield relative standard errors of about 8% (5%) in typical cases. This fact effectively breaks the barrier hitherto imposed by the current lack of automatic face detection algorithms, because semiautomatic sampling and manual counting becomes an attractive option

Aging and Visual Counting

Much previous work on how normal aging affects visual enumeration has been focused on the response time required to enumerate, with unlimited stimulus duration. There is a fundamental question, not yet addressed, of how many visual items the aging visual system can enumerate in a "single glance", without the confounding influence of eye movements.We recruited 104 observers with normal vision across the age span (age 21-85). They were briefly (200 ms) presented with a number of well- separated black dots against a gray background on a monitor screen, and were asked to judge the number of dots. By limiting the stimulus presentation time, we can determine the maximum number of visual items an observer can correctly enumerate at a criterion level of performance (counting threshold, defined as the number of visual items at which ≈63% correct rate on a psychometric curve), without confounding by eye movements. Our findings reveal a 30% decrease in the mean counting threshold of the oldest group (age 61-85: ∼5 dots) when compared with the youngest groups (age 21-40: 7 dots). Surprisingly, despite decreased counting threshold, on average counting accuracy function (defined as the mean number of dots reported for each number tested) is largely unaffected by age, reflecting that the threshold loss can be primarily attributed to increased random errors. We further expanded this interesting finding to show that both young and old adults tend to over-count small numbers, but older observers over-count more.Here we show that age reduces the ability to correctly enumerate in a glance, but the accuracy (veridicality), on average, remains unchanged with advancing age. Control experiments indicate that the degraded performance cannot be explained by optical, retinal or other perceptual factors, but is cortical in origin