A new class of stem cells in South Africa: iPS cells

Created from adult rather than embryonic cells, induced pluripotent stem (iPS) cells represent a breakthrough in stem cell science, and their pioneers have been recognised with the 2012 Nobel Prize in Medicine. These cells offer new hope in the treatment of pathogenetic diseases, but there is still a way to go on the road to effective therapeutic applications

Types of albinism in the black Southern Africa population

Background: Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis.Objectives: To investigate and classify the different types of albinism commonly found and to determine the clinical implications for each type.Design: A descriptive survey.Setting: Gauteng province, South Africa, and Lesotho.Subjects: Three groups of subjects with OCA (96 from a genetics clinic, 62 from a dermatology clinic, and 31 from community surveys) from the black African population participated.Main outcome measures: Subjects underwent clinical and/or dermatological examinations and were then classified according to type of OCA.Results: Four forms of OCA were identified: most (82%) subjects had OCA2 (a tyrosinasepositive type) with three sub-types: those without large freckles (ephelides) on exposed areas (named OCA 2a in this study), those with such freckles (named OCA 2b), and those with brown albinism (BOCA); the remainder had red/ rufous albinism, ROCA (OCA 3). The four forms could be distinguished from each other clinically without using molecular genetic testing.Conclusion: The most common types of albinism found in the black population of Southern Africa are OCA 2 and OCA 3. Given the high prevalence of the disorder, together with the high risk of skin cancer, and the recent persecution of affected individuals in certain East African countries, these findings and their clinical implications have significance in terms of both education and awareness for health professionals andlay people caring for those with albinism

Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy

Disorders of the nervous system represent a significant proportion of the global burden of non-communicable diseases, due to the trend towards ageing populations. The Department (now Division) of Human Genetics at the University of Cape Town (UCT) has been involved in pioneering research into these diseases since the appointment of Prof. Peter Beighton as Head of Department in 1972. Beighton’s emphasis on understanding the genetic basis of disease laid the groundwork for investigations into several monogenic neurodegenerative conditions, including Huntington’s disease and the polyglutamine spinocerebellar ataxias (SCAs). In particular, SCA7, which occurs at an unusually high frequency in the South African (SA) population, was identified as a target for further research and therapeutic development. Beginning with early epidemiological surveys, the SCA7 project progressed to molecular genetics-based investigations, leading to the identification of a founder effect in the SA SCA7 patient population in the mid-2000s. Capitalising on the founder haplotype shared by many SCA7 patients, UCT researchers went on to develop the first population-specific gene-silencing approach for the disease. More recently, efforts have shifted to the development of a more accurate model to decipher the precise mechanisms of neurodegeneration, using induced pluripotent stem cells derived from SA SCA7 patients. In many ways, the SA SCA7 journey reflects the legacy and vision of Prof. Peter Beighton, and his efforts to establish world-class, collaborative research into diseases affecting the African continent.

Contrasting influences of inundation and land use on the rate of floodplain restoration

This study examined the assisted natural restoration of native vegetation in an Australian floodplain wetland where flows were reinstated and the river was reconnected to the floodplain, following cessation of agricultural cultivation. Extant vegetation was surveyed three times during an inundation event at plots with different land‐use histories. Restoration rate was more influenced by past land use than long‐term inundation frequency and success decreased with antecedent land‐use intensity. Prolonged land‐use history (>3 years cultivation) restricted restoration success. Sites with longer cultivation histories tended to have fewer aquatic species, more terrestrial species and exotic species. For example, amphibious responders with floating leaves were found only in reference plots and less frequently in farmed treatment plots. In this scenario, increased persistence of exotics and dryland species suggested alternative trajectories. Fields with a short land‐use history (1–3 years of clearing and cultivation) resembled undisturbed floodplain communities, consistent with a ‘field of dreams’ hypothesis. Although river–floodplain reconnections can restore wetlands, legacy effects of past land use may limit the pace and outcomes of restoration.Australian Postgraduate AwardAustralian Research Council. Grant Number: DE120102221ARC Centre of Excellence for Environmental Decisions Australian Research Council Linkage Project. Grant Number: LP088416

Diagnostic and treatment characteristics of polycystic ovary syndrome: descriptive measurements of patient perception and awareness from 657 confidential self-reports

BACKGROUND: This investigation was undertaken to describe patient perception and awareness of the polycystic ovary syndrome (PCOS), the most common cause of anovulation/oligoovulation among women of reproductive age. METHODS: Fifteen parameters were evaluated by a computer-based research instrument accessed by a large, unscreened population. Incomplete questionnaires were not entered, and responses were electronically tabulated to block duplicate submissions. RESULTS: From 657 participants, the majority (63%) were between 26–34 years old; mean BMI was 30.4 kg/m(2). 343 of 657 had at least one pregnancy and 61% of the study group had taken fertility medicine (any type) at least once. Physicians were the most common provider of PCOS information for all study participants, irrespective of age. Patient emotions associated with the diagnosis of PCOS included "frustration" (67%), "anxiety" (16%), "sadness" (10%), and "indifference" (2%). Self-reported patient aptitude regarding PCOS was scored as high or "very aware" in >60% of women. Respondents were also asked: "If your PCOS could be safely and effectively helped by something else besides fertility drugs or birth control pills, would that interest you?" Interest in alternative PCOS treatments was expressed by 99% of the sample (n = 648). CONCLUSIONS: In our study population, most women associated negative emotions with PCOS although the self-reported knowledge level for the disorder was high. While these women regarded their obstetrician-gynecologist as integral to their PCOS education, traditional PCOS therapies based on oral contraceptives or ovulation induction agents were regarded as unsatisfactory by most women

An assessment of the Jenkinson and Collison synoptic classification to a continental mid-latitude location

A weather-type catalogue based on the Jenkinson and Collison method was developed for an area in south-west Russia for the period 1961--2010. Gridded sea level pressure data was obtained from the National Centers for Environmental Prediction/National Center for Atmospheric Research (NCEP/NCAR) reanalysis. The resulting catalogue was analysed for frequency of individual types and groups of weather types to characterise long-term atmospheric circulation in this region. Overall, the most frequent type is anticyclonic (A) (23.3 {%}) followed by cyclonic (C) (11.9 {%}); however, there are some key seasonal patterns with westerly circulation being significantly more common in winter than summer. The utility of this synoptic classification is evaluated by modelling daily rainfall amounts. A low level of error is found using a simple model based on the prevailing weather type. Finally, characteristics of the circulation classification are compared to those for the original JC British Isles catalogue and a much more equal distribution of flow types is seen in the former classification

LONG-RUN PERSISTENCE IN RESERVOIR INFLOWS: EMPIRICAL MODE DECOMPOSITION IN SYDNEY AND MELBOURNE

ABSTRACT This paper quantifies long-run hydrological persistence in reservoir inflows to two regions: Melbourne and Sydney. We use a relatively new approach in hydrology, Empirical Mode Decomposition (EMD). Our three key results are summarised below: (1) For Melbourne and Sydney inflows, 57-66% of total variance was accounted for by periodicities <10 years; 20-21% of total variance was attributable to periodicities >10 years; and 14-22

Towards a fair comparison of statistical and dynamical downscaling in the framework of the EURO-CORDEX initiative

Both statistical and dynamical downscaling methods are well established techniques to bridge the gap between the coarse information produced by global circulation models and the regional-to-local scales required by the climate change Impacts, Adaptation, and Vulnerability (IAV) communities. A number of studies have analyzed the relative merits of each technique by inter-comparing their performance in reproducing the observed climate, as given by a number of climatic indices (e.g. mean values, percentiles, spells). However, in this paper we stress that fair comparisons should be based on indices that are not affected by the calibration towards the observed climate used for some of the methods. We focus on precipitation (over continental Spain) and consider the output of eight Regional Climate Models (RCMs) from the EURO-CORDEX initiative at 0.44? resolution and five Statistical Downscaling Methods (SDMs) ?analog resampling, weather typing and generalized linear models? trained using the Spain044 observational gridded dataset on exactly the same RCM grid. The performance of these models is inter-compared in terms of several standard indices ?mean precipitation, 90th percentile on wet days, maximum precipitation amount and maximum number of consecutive dry days? taking into account the parameters involved in the SDM training phase. It is shown, that not only the directly affected indices should be carefully analyzed, but also those indirectly influenced (e.g. percentile-based indices for precipitation) which are more difficult to identify. We also analyze how simple transformations (e.g. linear scaling) could be applied to the outputs of the uncalibrated methods in order to put SDMs and RCMs on equal footing, and thus perform a fairer comparison.We acknowledge the World Climate Research Programme’s Working Group on Regional Climate, and theWorking Group on CoupledModelling, former coordinating body of CORDEX and responsible panel for CMIP5. We also thank the climate modeling groups (listed in Table 1 of this paper) for producing and making available their model output. We also acknowledge the Earth System Grid Federation infrastructure and AEMET and University of Cantabria for the Spain02 dataset (available at http: //www.meteo.unican.es/en/datasets/spain02). All the statistical downscaling experiments have been computed using theMeteoLab software (http://www.meteo.unican.es/software/meteolab), which is an open-source Matlab toolbox for statistical downscaling. This work has been partially supported by CORWES (CGL2010-22158-C02) and EXTREMBLES (CGL2010-21869) projects funded by the Spanish R&D programme. AC thanks the Spanish Ministry of Economy and Competitiveness for the funding provided within the FPI programme (BES-2011-047612 and EEBB-I-13-06354), JMG acknowledges the support from the SPECS project (FP7-ENV-2012-308378) and JF is grateful to the EUPORIAS project (FP7-ENV-2012-308291). We also thank three anonymous referees for their useful comments that helped to improve the original manuscript

An Early Study on the Mechanisms that Allow Tissue-Engineered Vascular Grafts to Resist Intimal Hyperplasia

Intimal hyperplasia is one of the prominent failure mechanisms for arteriovenous fistulas and arteriovenous access grafts. Human tissue-engineered vascular grafts (TEVGs) were implanted as arteriovenous grafts in a novel baboon model. Ultrasound was used to monitor flow rates and vascular diameters throughout the study. Intimal hyperplasia in the outflow vein of TEVGs was assessed at the anastomosis and at juxta-anastomotic regions via histological analysis, and was compared to intimal hyperplasia with polytetrafluoroethylene (PTFE) grafts in the baboon model and in literature reports from other animal models. Less venous intimal hyperplasia was observed in histological sections with arteriovenous TEVGs than with arteriovenous PTFE grafts. TEVGs were associated with a mild, noninflammatory intimal hyperplasia. The extent of intimal tissue that formed with TEVG placement correlated with the rate of blood flow through tissue engineered vascular grafts at 2 weeks postimplant. Outflow vein dilatation was observed with increased flow rate. Both mid-graft flow rates and outflow vein diameters reached a plateau by week 4, which suggested that venous remodeling and intimal hyperplasia largely occurred within the first 4 weeks of implant in the baboon model. Given their compliant and noninflammatory nature, TEVGs appear resistant to triggers for venous intimal hyperplasia that are common for PTFE arteriovenous grafts, including (1) abundant proinflammatory macrophage populations that are associated with PTFE grafts and (2) compliance mismatch between PTFE grafts and the outflow vein. Our findings suggest that arteriovenous TEVGs develop only a mild form of venous intimal hyperplasia, which results from the typical hemodynamic changes that are associated with arteriovenous settings