Molecular analysis of the eTG trinucleotide repeat in South African myotonic dystrophy families implications for diagnosis and counselling

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Diagnosing cystic fibrosis in South Africa

Cystic fibrosis (CF) occurs in all South Africa’s population groups. While well described in the white and coloured populations, its presence in black African populations is less well known. Recent evidence from the group of CF patients in the Western Cape suggests an incidence of 1 in 3 000 and 1 in 10 300 live births in the white and coloured populations respectively.1 In black South African populations, carrier frequency estimates have been used to project an incidence of 1 in 4 624 live births.2 Further evidence of the presence of CF in these populations is presented in this issue of the Journal. 3 While considering or being aware of the diagnosis is the first step in identifying CF, diagnosing the disease presents challenges at clinical and laboratory levels in South Africa. In simple terms, the diagnosis of CF requires a patient to have suggestive clinical features as well as 2 positive sweat tests and/or 2 identified disease-causing CF transmembrane conductance regulator (CFTR) gene mutations

Leveraging genomic diversity to promote human and animal health

Contains fulltext : 215655.pdf (publisher's version ) (Open Access)Genomic diversity is a driving force influencing human and animal health, and susceptibility to disease. During the Keystone Symposium on Leveraging Genomic Diversity to Promote Human and Animal Health held in Kampala on Lake Victoria in Uganda, we brought together diverse communities of geneticists with primary objectives to explore areas of common interest, joint technological and methodological developments and applications, and to leverage opportunities for cross-learning. We explored translational genomics research in farmed animals and humans, debated the differences in research objectives in high- and low-resourced environments, delved into infectious diseases and zoonoses affecting humans and animals and considered diversity and cultural context at many levels. The 109 participants were from 22 countries (13 in Africa) and included 44 global travel awardees from 9 countries, equal numbers of men and women, of whom 31 were students and 13 senior investigators

Effectiveness of Technology-Integrated Instruction on High School Students\u27 Mathematic Achievement Scores

In an effort to improve mathematics retention and increase assessment scores, the public school district under study implemented Study Island into their Grade 9 algebra program. Study Island is a commercialized web-based program, customized to specific state standards and applied as a supplemental instructional tool. The purpose of this study was to determine the effectiveness of Study Island with general education students and to determine whether the effectiveness of replacing some traditional mathematic instruction with technology was beneficial. The theoretical foundation stemmed from Bloom\u27s work on mastery learning, which holds that children can learn if given the proper environment and tools. The research question investigated algebra students\u27 possible academic growth through the use of Study Island software (N = 56). A nonequivalent pretest-posttest quasi-experimental design was employed to measure student mathematics achievement between students who participated in the technology program (n = 28) and those who did not (n = 28), controlling for preexisting differences in mathematics achievement. The study occurred over a 10-week period, with 90 minutes of daily mathematics instruction. Final results were determined using pre- and postcourse mathematic assessments and by applying analysis of covariance (ANCOVA). Results suggested the use of Study Island had a statistically significant influence on increased mathematic assessment scores. These results support the use of Study Island by the local district to increase mathematics achievement for all students. Implications for positive social change include identifying the effectiveness of a technology treatment, which can contribute to improved student achievement and encourage non-traditional approaches to teaching mathematics

Spatial and Temporal Variability in Macroalgal Blooms 1 in a Eutrophied Coastal Estuary

All three macroalgal clades (Chlorophyta, Rhodophyta, and Phaeophyceae) contain bloom-forming species. Macroalgal blooms occur worldwide and have negative consequences for coastal habitats and economies. Narragansett Bay (NB), Rhode Island, USA, is a medium sized estuary that is heavily influenced by anthropogenic activities and has been plagued by macroalgal blooms for over a century. Over the past decade, significant investment has upgraded wastewater treatment from secondary treatment to water-quality based limits (i.e. tertiary treatment) in an effort to control coastal eutrophication in this system. The goal of this study was to improve the understanding of multi-year macroalgal bloom dynamics through intensive aerial and ground surveys conducted monthly to bi-monthly during low tides in May-October 2006-2013 in NB. Aerial surveys provided a rapid characterization of macroalgal densities across a large area, while ground surveys provided high resolution measurements of macroalgal identity, percent cover, and biomass. Macroalgal blooms in NB are dominated by Ulva and Gracilaria spp. regardless of year or month, although all three clades of macroalgae were documented. Chlorophyta cover and nutrient concentrations were highest in the middle and upper bay. Rhodophyta cover was highest in the middle and lower bay, while drifting Phaeophyceae cover was patchy. Macroalgal blooms of \u3e1000g fresh mass (gfm)/m2 (max=3510gfm/m2) in the intertidal zone and \u3e3000gfm/m3 (max=8555gfm/m3) in the subtidal zone were observed within a heavily impacted embayment (Greenwich Bay). Macroalgal percent cover (intertidal), biomass (subtidal), and diversity varied significantly between year, month-group, site, and even within sites, with the highest species diversity at sites outside of Greenwich Bay. Total intertidal macroalgal percent cover, as well as subtidal Ulva biomass, were positively correlated with temperature. Dissolved inorganic nitrogen concentrations were correlated with the total biomass of macroalgae and the subtidal biomass of Gracilaria spp. but not the biomass of Ulva spp. Despite seasonal reductions in the nutrient output of wastewater treatment facilities emptying into upper Narragansett Bay in recent years, macroalgal blooms still persist. Continued long-term monitoring of water quality, macroalgal blooms, and ecological indicators is essential to understand the changes in macroalgal bloom dynamics that occur after nutrient reductions from management efforts

Establishing an academic biobank in a resource-challenged environment

Past practices of informal sample collections and spreadsheets for data and sample management fall short of best-practice models for biobanking, and are neither cost effective nor efficient to adequately serve the needs of large research studies. The biobank of the Sydney Brenner Institute for Molecular Bioscience serves as a bioresource for institutional, national and international research collaborations. It provides high-quality human biospecimens from African populations, secure data and sample curation and storage, as well as monitored sample handling and management processes, to promote both non-communicable and infectious-disease research. Best-practice guidelines have been adapted to align with a low-resource setting and have been instrumental in the development of a quality-management system, including standard operating procedures and a quality-control regimen. Here, we provide a summary of 10 important considerations for initiating and establishing an academic research biobank in a low-resource setting. These include addressing ethical, legal, technical, accreditation and/or certification concerns and financial sustainability

Establishing an academic biobank in a resource-challenged environment

Past practices of informal sample collections and spreadsheets for data and sample management fall short of best-practice models for biobanking, and are neither cost effective nor efficient to adequately serve the needs of large research studies. The biobank of the Sydney Brenner Institute for Molecular Bioscience serves as a bioresource for institutional, national and international research collaborations. It provides high-quality human biospecimens from African populations, secure data and sample curation and storage, as well as monitored sample handling and management processes, to promote both non-communicable and infectious-disease research. Best-practice guidelines have been adapted to align with a low-resource setting and have been instrumental in the development of a quality-management system, including standard operating procedures and a quality-control regimen. Here, we provide a summary of 10 important considerations for initiating and establishing an academic research biobank in a low-resource setting. These include addressing ethical, legal, technical, accreditation and/or certification concerns and financial sustainability

Racial and Ethnic Differences in the Association Between Classical Cardiovascular Risk Factors and Common Carotid Intima-Media Thickness: An Individual Participant Data Meta-Analysis

Contains fulltext : 253348.pdf (Publisher’s version ) (Open Access