Experimentação pedagógica - relações CTSA na formação inicial do licenciando em Química

A formação inicial do professor de química é um momento propício a experimentação pedagógica, onde novas metodologias/ enfoques/ teorias podem ser incorporados ao futuro exercício da docência. O presente trabalho visa discutir a experiência de formação de dois licenciandos em química, em seu primeiro estágio supervisionado durante o semestre 2007.1 da Universidade do Estado do Rio Grande do Norte - Brasil. Bem como as propostas de aulas práticas dirigidas por estes com o intuito de desenvolver um enfoque CTSA em seu primeiro contato com a regência de sala. Para a discussão das observações levou-se em conta as impressões de licenciandos para analisar criticamente as contribuições que esta prática efetivamente construíram para a formação dos futuros professores de química, e principalmente sobre as suas visões sobre possibilidades do enfoque CTSA no ensino-aprendizagem

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

PURPOSE: With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and paediatric (PICU) intensive care populations. METHODS: We performed trio whole genome sequence (WGS) analysis on a prospective cohort of families recruited in NICU and PICU at a single site in the UK. We developed a research pipeline in collaboration with the National Health Service to deliver validated pertinent pathogenic findings within 2-3 weeks of recruitment. RESULTS: A total of 195 families had whole genome analysis performed (567 samples) and 21% received a molecular diagnosis for the underlying genetic condition in the child. The phenotypic description of the child was a poor predictor of the gene identified in 90% of cases, arguing for gene agnostic testing in NICU/PICU. The diagnosis affected clinical management in more than 65% of cases (83% in neonates) including modification of treatments and care pathways and/or informing palliative care decisions. A 2-3 week turnaround was sufficient to impact most clinical decision-making. CONCLUSIONS: The use of WGS in intensively ill children is acceptable and trio analysis facilitates diagnoses. A gene agnostic approach was effective in identifying an underlying genetic condition, with phenotypes and symptomatology being primarily used for data interpretation rather than gene selection. WGS analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.

PURPOSE: Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantify the SMN1 copy number (CN) is recommended by the American College of Medical Genetics and Genomics. METHODS: We developed a method that accurately identifies the CN of SMN1 and SMN2 using genome sequencing (GS) data by analyzing read depth and eight informative reference genome differences between SMN1/2. RESULTS: We characterized SMN1/2 in 12,747 genomes, identified 1568 samples with SMN1 gains or losses and 6615 samples with SMN2 gains or losses, and calculated a pan-ethnic carrier frequency of 2%, consistent with previous studies. Additionally, 99.8% of our SMN1 and 99.7% of SMN2 CN calls agreed with orthogonal methods, with a recall of 100% for SMA and 97.8% for carriers, and a precision of 100% for both SMA and carriers. CONCLUSION: This SMN copy-number caller can be used to identify both carrier and affected status of SMA, enabling SMA testing to be offered as a comprehensive test in neonatal care and an accurate carrier screening tool in GS sequencing projects

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that application of next-generation sequencing technologies to undiagnosed cohorts has been a catalyst for genetic diagnosis and gene-disease associations. We describe the clinical and molecular genetic investigations of four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, highly suggestive of an underlying mitochondrial diagnosis. Next-generation sequencing identified bi-allelic variants in NDUFA6, encoding a 15 kDa LYR-motif-containing complex I subunit that forms part of the Q-module. Functional investigations using subjects' fibroblast cell lines demonstrated complex I assembly defects, which were characterized in detail by mass-spectrometry-based complexome profiling. This confirmed a marked reduction in incorporated NDUFA6 and a concomitant reduction in other Q-module subunits, including NDUFAB1, NDUFA7, and NDUFA12. Lentiviral transduction of subjects' fibroblasts showed normalization of complex I. These data also support supercomplex formation, whereby the ∼830 kDa complex I intermediate (consisting of the P- and Q-modules) is in complex with assembled complex III and IV holoenzymes despite lacking the N-module. Interestingly, RNA-sequencing data provided evidence that the consensus RefSeq accession number does not correspond to the predominant transcript in clinically relevant tissues, prompting revision of the NDUFA6 RefSeq transcript and highlighting not only the importance of thorough variant interpretation but also the assessment of appropriate transcripts for analysis

Etude de la morphogénèse au cours du développement et de l'évolution (caractérisation fonctionnelle du gène ovol/shavenbaby chez la drosophile)

TOULOUSE3-BU Sciences (315552104) / SudocSudocFranceF

Atterrer les rieurs (jean-Jacques Rousseau entre la gaieté et la risée (1712-1778))

Contrairement aux idées reçues, Jean-Jacques Rousseau a aimé le rire et la gaieté: différents écrits, souvent allègres, depuis les œuvres autobiographiques jusqu à ses comédies, nous le prouvent. La Correspondance Complète le confirme: goût du comique, badinage, rire sentimental, bonhomie et même humour caractérisent le Citoyen de Genève que l on oppose traditionnellement à Voltaire pour son manque de légèreté. Bien plus, les notions de gaieté et le rire s intègrent à son système philosophique, et contribuent à enrichir sa conception de la société, de l éducation, de l enfance et même des femmes bien au-delà de la seule Lettre à d Alembert. Inversement, l écrivain s est méfié de manière innée du rire de dérision, et surtout du persiflage, dont il s est vu la victime dans les salons de Paris. De plus, à partir de 1750 et surtout de la réforme de 1756, le Citoyen, devenu le pourfendeur des rires sur le plan intellectuel et moral, devient lui-même, progressivement, la risée de Paris, de Genève et de Londres (de la part de personnalités aussi différentes que Palissot, Voltaire, Walpole, Grimm ou Diderot) au point d imaginer l existence du complot en 1766 à Wootton, et d y perdre un peu de sa raison - mais jamais vraiment de sa gaieté originelle.Contrary to generally accepted ideas, Jean-Jacques Rousseau liked the laughter and the cheerfulness: various writings (his novel Julie ou La Nouvelle Héloïse, his four comedies, his autobiographical works, and even pamphlets), often joyful, prove it. The Complete Correspondence confirms this idea: taste of comic, pleasantry, sentimental laughter, and even humor characterize the Citizen of Geneva who is traditionally opposed to Voltaire for his lack of lightness or wit. Moreover, the notions of cheerfulness and laughter fit his philosophical system, and enrich his conception of society, education, childhood and even women well beyond the Lettre à d Alembert sur les spectacles published in 1758. Conversely, and in a more conventional way, the writer used to distrust in an innate way, derision, and the persiflage he was the victim in the salons of Paris. Especially from 1750 and more specifically after the personal reformation in 1756, Rousseau was the slayer of laughter at an intellectual and moral level, and he became gradually the victim of the laughing stock of Paris, Geneva and London (from personalities as diverse as Palissot, Voltaire, Walpole, Diderot and Grimm) so much as to imagine the existence of the complot at Wootton in 1766.PARIS4-Bib. électronique (751059905) / SudocSudocFranceF

T-B cell cooperation for bovine leukemia virus expression in ovine lymphocytes.

International audienceBovine leukemia virus (BLV) replication in B lymphocytes from experimentally infected sheep depends on three conditions. First, viral production is detected only when the infected animals exhibit blood lymphocytosis. Second, it requires in vitro cultivation but is never observed in vivo. Third, enhancement of virus expression after phytohemaglutinin (PHA) or concavalin A stimulation is observed in lymphocyte cultures for all infected animals, whereas specifically B cell mitogens are inefficient. The PHA effect is linked to the presence of T lymphocytes. In addition, the conditioned medium prepared from PHA-stimulated normal lymphocytes greatly enhances BLV production. Altogether, these results establish that T lymphocytes, through a lymphokine production, are important and may be essential for BLV growth in B lymphocytes

Barriers to the National Onchocerciasis Control Programme at operational level in Cameroon: a qualitative assessment of stakeholders’views

Background: The global burden of onchocerciasis is the heaviest in sub-Saharan Africa. Studies have shown the importance of the role of Community-Directed Distributors (CDDs) and nurses in onchocerciasis control, but little is known about their experience in implementing onchocerciasis control programmes. Our aim was to document the barriers that CDDs and local health administrators face in implementing onchocerciasis control activities. Methods: We conducted a qualitative survey consisting of 16 in-depth interviews and 8 focus group discussions (FGDs) across three health districts of Cameroon. We interviewed a total of 9 local health officials at the district and Health Area levels, and 7 CDDs. Eight FGDs were conducted with CDDs and Health Committee members. Results: The major barriers to the implementation of Community Directed Treatment with Ivermectin that we identified were linked and interrelated. Examples of these barriers included: contextual factors (geographical and cultural background), top-to-bottom planning, insufficient human and material resources, and lack of transparency in the management of the programme's funds. Conclusions: The CDTI at operational level still faces many obstacles which negatively affect therapeutic coverages. This can lead to the non-adhesion of the communities to the programme, consequently jeopardizing the sustainability of the onchocerciasis elimination programme. We recommend that the national programme planners put in place a transparent management and planning system for onchocerciasis elimination activities, with better communication with local programme stakeholders.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Do Communities Really "Direct" in Community-Directed Interventions? A Qualitative Assessment of Beneficiaries' Perceptions at 20 Years of Community Directed Treatment with Ivermectin in Cameroon.

info:eu-repo/semantics/publishe