670 research outputs found
Social difference, cultural arbitrary and identity : an analysis of a new national curriculum document in a non-secular environment
This article focuses on the idea of the Curriculum as a 'selection from the cultures of society' and as a site of contestation for legitimacy and identity affirmation. The purpose is to shed some light on the nature of curricular reform being advocated in a specific context - Malta. Throughout the past four years, there has been a revamping of the National Minimum Curriculum (NMC) document in Malta, established in 1988. The 'old' National Minimum Curriculum was subject to criticism focusing on a variety of issues (echoing criticisms levelled at similar National Curricula elsewhere), including issues concerning difference and identity. The first part of the article deals briefly with the issues concerning difference raised in this criticism, focusing on the issues of class, race/ethnicity, gender and disability. The second part focuses on the long and gradual build up towards the development of the new National Curriculum document. The process centres around two documents, the preliminary Tomorrow's Schoolsdocument and the draft NMC document. The issues of equity and the affirmation of social difference, as well as the move towards de-streaming, are discussed. It is argued that this process of reform benefited from the criticism of the earlier NMC document. The process of reform involved an attempt at widespread participation by various stakeholders - parents, teachers, students, unions, women's organisations, disabled person's organisations etc. The final section focuses on the final new NMC document. In this section, the authors explore the compromises, which have been made in reaction to the draft document, indicating the interests at play. Whose cultural arbitrary is reflected in the final document? The article concludes with a discussion centring around lessons to be drawn from a process of curricular reform, involving issues related to identity and difference, carried out in a country characterised by a non-secular environment.peer-reviewe
Social difference, cultural arbitrary and identity: An analysis of a new national curriculum document in a non-secular environment
Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function.
BACKGROUND: Genome-wide association studies (GWAS) have identified numerous loci influencing cross-sectional lung function, but less is known about genes influencing longitudinal change in lung function.
METHODS: We performed GWAS of the rate of change in forced expiratory volume in the first second (FEV1) in 14 longitudinal, population-based cohort studies comprising 27,249 adults of European ancestry using linear mixed effects model and combined cohort-specific results using fixed effect meta-analysis to identify novel genetic loci associated with longitudinal change in lung function. Gene expression analyses were subsequently performed for identified genetic loci. As a secondary aim, we estimated the mean rate of decline in FEV1 by smoking pattern, irrespective of genotypes, across these 14 studies using meta-analysis.
RESULTS: The overall meta-analysis produced suggestive evidence for association at the novel IL16/STARD5/TMC3 locus on chromosome 15 (P  =  5.71 × 10(-7)). In addition, meta-analysis using the five cohorts with ≥3 FEV1 measurements per participant identified the novel ME3 locus on chromosome 11 (P  =  2.18 × 10(-8)) at genome-wide significance. Neither locus was associated with FEV1 decline in two additional cohort studies. We confirmed gene expression of IL16, STARD5, and ME3 in multiple lung tissues. Publicly available microarray data confirmed differential expression of all three genes in lung samples from COPD patients compared with controls. Irrespective of genotypes, the combined estimate for FEV1 decline was 26.9, 29.2 and 35.7 mL/year in never, former, and persistent smokers, respectively.
CONCLUSIONS: In this large-scale GWAS, we identified two novel genetic loci in association with the rate of change in FEV1 that harbor candidate genes with biologically plausible functional links to lung function
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We describe two broad scenarios for the application of RbG: studies using single variants and those using multiple variants. We consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner
The Effect of Algorithms on Copy Number Variant Detection
BACKGROUND: The detection of copy number variants (CNVs) and the results of CNV-disease association studies rely on how CNVs are defined, and because array-based technologies can only infer CNVs, CNV-calling algorithms can produce vastly different findings. Several authors have noted the large-scale variability between CNV-detection methods, as well as the substantial false positive and false negative rates associated with those methods. In this study, we use variations of four common algorithms for CNV detection (PennCNV, QuantiSNP, HMMSeg, and cnvPartition) and two definitions of overlap (any overlap and an overlap of at least 40% of the smaller CNV) to illustrate the effects of varying algorithms and definitions of overlap on CNV discovery. METHODOLOGY AND PRINCIPAL FINDINGS: We used a 56 K Illumina genotyping array enriched for CNV regions to generate hybridization intensities and allele frequencies for 48 Caucasian schizophrenia cases and 48 age-, ethnicity-, and gender-matched control subjects. No algorithm found a difference in CNV burden between the two groups. However, the total number of CNVs called ranged from 102 to 3,765 across algorithms. The mean CNV size ranged from 46 kb to 787 kb, and the average number of CNVs per subject ranged from 1 to 39. The number of novel CNVs not previously reported in normal subjects ranged from 0 to 212. CONCLUSIONS AND SIGNIFICANCE: Motivated by the availability of multiple publicly available genome-wide SNP arrays, investigators are conducting numerous analyses to identify putative additional CNVs in complex genetic disorders. However, the number of CNVs identified in array-based studies, and whether these CNVs are novel or valid, will depend on the algorithm(s) used. Thus, given the variety of methods used, there will be many false positives and false negatives. Both guidelines for the identification of CNVs inferred from high-density arrays and the establishment of a gold standard for validation of CNVs are needed
Rapid Discrimination of Salmonella enterica Serovar Typhi from Other Serovars by MALDI-TOF Mass Spectrometry
Systemic infections caused by Salmonella enterica are an ongoing public health problem especially in Sub-Saharan Africa. Essentially typhoid fever is associated with high mortality particularly because of the increasing prevalence of multidrug-resistant strains. Thus, a rapid blood-culture based bacterial species diagnosis including an immediate sub-differentiation of the various serovars is mandatory. At present, MALDI-TOF based intact cell mass spectrometry (ICMS) advances to a widely used routine identification tool for bacteria and fungi. In this study, we investigated the appropriateness of ICMS to identify pathogenic bacteria derived from Sub-Saharan Africa and tested the potential of this technology to discriminate S. enterica subsp. enterica serovar Typhi (S. Typhi) from other serovars. Among blood culture isolates obtained from a study population suffering from febrile illness in Ghana, no major misidentifications were observed for the species identification process, but serovars of Salmonella enterica could not be distinguished using the commercially available Biotyper database. However, a detailed analysis of the mass spectra revealed several serovar-specific biomarker ions, allowing the discrimination of S. Typhi from others. In conclusion, ICMS is able to identify isolates from a sub-Saharan context and may facilitate the rapid discrimination of the clinically and epidemiologically important serovar S. Typhi and other non-S. Typhi serovars in future implementations
Human papillomavirus 16 is an aetiological factor of scrotal cancer
Background: Squamous cell scrotal carcinoma (SCSC) is an infrequent skin cancer associated historically with occupational carcinogens. Human papillomavirus (HPV) DNA has been associated with SCSC but there is no definitive proof of its oncogenic role. Methods: Human papillomavirus-DNA and -E6*I mRNA were analysed in six invasive histologically typed SCSC. LCM-PCR was used to localise HPV DNA to tumour cells. P16(INK4a)and p53 expression were studied by immunohistochemistry. Results: In three warty or basaloid SCSC HPV16-DNA and E6*I-mRNA were detected. LCM-PCR confirmed HPV16 was in p16(INK4a)-positive malignant cells. However, of three usual-type SCSC, all were HPV-negative and two expressed p53 protein but not p16(INK4a). Conclusions: Human papillomavirus 16 was present in tumour cells and oncogenically active in basaloid and warty SCSC, whereas usual SCSC was HPV-negative and showed immunostaining, suggesting p53 mutation. The dual pathways of oncogenesis and relation between histological type of SCSC and HPV are similar to that in penile cancers
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Energy input and dissipation in a temperate lake during the spring transition
ADCP and temperature chain measurements have been used to estimate the rate of energy input by wind stress to the water surface in the south basin of Windermere. The energy input from the atmosphere was found to increase markedly as the lake stratified in spring. The efficiency of energy transfer (Eff), defined as the ratio of the rate of working in near-surface waters (RW) to that above the lake surface (P10), increased from ∼0.0013 in vertically homogenous conditions to ∼0.0064 in the first 40 days of the stratified regime. A maximum value of Eff∼0.01 was observed when, with increasing stratification, the first mode internal seiche period decreased to match the diurnal wind period of 24 h. The increase in energy input, following the onset of stratification was reflected in enhancement of the mean depth-varying kinetic energy without a corresponding increase in wind forcing. Parallel estimates of energy dissipation in the bottom boundary layer, based on determination of the structure function show that it accounts for ∼15% of RW in stratified conditions. The evolution of stratification in the lake conforms to a heating stirring model which indicates that mixing accounts for ∼21% of RW. Taken together, these estimates of key energetic parameters point the way to the development of full energy budgets for lakes and shallow seas
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