L’évaluation de l’engagement à la réflexion : les perceptions des étudiants en médecine

Background: While developing reflection skills is considered important by educators, the assessment of these skills is often associated with unintended negative consequences. In the context of a mandatory longitudinal course that aims to promote the development of reflection on professional identity, we assessed students’ commitment to reflection. This study explores students’ perception of this assessment by their mentor. Methods: We conducted a qualitative descriptive study using semi-structured interviews with twenty-one 1st and six 2nd year medical students. Thematic analysis was informed by Braun and Clarke’s six-step approach. Results: We identified four main themes: 1- assessment as a motivator, 2- consequences on authenticity, 3- perception of inherent subjectivity, and 4 - relationship with the mentor. Conclusions: In the context of assessing reflection skills in future physicians, we observed that students –when assessed on the process of reflection– experienced high motivation but were ambivalent on the question of authenticity. The subjectivity of the assessment as well as the relationship with their mentor also raises questions. Nevertheless, this assessment approach for reflective skills appears to be promising in terms of limiting the negative consequences of assessment.Contexte : Malgré l’importance que les éducateurs attribuent à l’acquisition de compétences de réflexion, l’évaluation de ces compétences entraîne souvent des conséquences négatives involontaires. Dans le cadre d’un cours longitudinal obligatoire visant à promouvoir le développement de la réflexion sur l’identité professionnelle, nous avons évalué l’engagement des étudiants à cultiver leurs compétences de réflexion. Cette étude explore leur perception de cette évaluation menée par leur mentor. Méthodes : Nous avons réalisé une étude qualitative descriptive à l’aide d’entretiens semi-structurés avec vingt-et-un étudiants en médecine de première année et six étudiants en médecine de deuxième année. Notre analyse thématique repose sur l’approche en six étapes de Braun et Clarke. Résultats : Nous avons identifié quatre thèmes principaux : 1 – l’évaluation comme facteur de motivation, 2 – les conséquences sur l’authenticité, 3 – la perception de la subjectivité inhérente, et 4 – la relation avec le mentor. Conclusions : Dans le contexte de l’évaluation des compétences de réflexion des futurs médecins, focalisée plus particulièrement sur le processus de réflexion, les étudiants se sont montrés très motivés, mais incertains quant à son authenticité. La subjectivité de l’évaluation et la relation avec leur mentor soulèvent également des interrogations. Néanmoins, cette approche d’évaluation des compétences réflexives semble prometteuse dans la mesure où elle permet de limiter les conséquences négatives de l’évaluation

Assessing commitment to reflection: perceptions of medical students

Background: While developing reflection skills is considered important by educators, the assessment of these skills is often associated with unintended negative consequences. In the context of a mandatory longitudinal course that aims to promote the development of reflection on professional identity, we assessed students’ commitment to reflection. This study explores students’ perception of this assessment by their mentor. Methods: We conducted a qualitative descriptive study using semi-structured interviews with twenty-one 1st and six 2nd year medical students. Thematic analysis was informed by Braun and Clarke’s six-step approach. Results: We identified four main themes: 1- assessment as a motivator, 2- consequences on authenticity, 3- perception of inherent subjectivity, and 4 - relationship with the mentor. Conclusions: In the context of assessing reflection skills in future physicians, we observed that students –when assessed on the process of reflection– experienced high motivation but were ambivalent on the question of authenticity. The subjectivity of the assessment as well as the relationship with their mentor also raises questions. Nevertheless, this assessment approach for reflective skills appears to be promising in terms of limiting the negative consequences of assessment

Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis.

Congenital hypothyroidism caused by thyroid dysgenesis (CHTD) is a common congenital disorder with a birth prevalence of 1 case in 4000 live births, and up to 8% of individuals with CHTD have co-occurring congenital heart disease. Initially we found nine patients with cardiac and thyroid congenital disorders in our cohort of 158 CHTD patients. To enrich for a rare phenotype likely to be genetically simpler, we selected three patients with a ventricular septal defect for molecular studies. Then, to assess whether rare de novo copy number variants and coding mutations in candidate genes are a source of genetic susceptibility, we used a genome-wide single-nucleotide polymorphism array and Sanger sequencing to analyze blood DNA samples from selected patients with co-occurring CHTD a congenital heart disease. We found rare variants in all three patients, and we selected Netrin-1 as the biologically most plausible contributory factor for functional studies. In zebrafish, ntn1a and ntn1b were not expressed in thyroid tissue, but ntn1a was expressed in pharyngeal arch mesenchyme, and ntn1a-deficient embryos displayed defective aortic arch artery formation and abnormal thyroid morphogenesis. The functional activity of the thyroid in ntn1a-deficient larvae was, however, preserved. Phenotypic analysis of affected zebrafish indicates that abnormal thyroid morphogenesis resulted from a lack of proper guidance exerted by the dysplastic vasculature of ntn1a-deficient embryos. Hence, careful phenotyping of patients combined with molecular and functional studies in zebrafish identify Netrin-1 as a potential shared genetic factor for cardiac and thyroid congenital defects.SCOPUS: ar.jSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Joubert syndrome (JBTS) is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities. Although JBTS was first described more than 40 years ago in French Canadian siblings, the causal mutations have not yet been identified in this family nor in most French Canadian individuals subsequently described. We ascertained a cluster of 16 JBTS-affected individuals from 11 families living in the Lower St. Lawrence region. SNP genotyping excluded the presence of a common homozygous mutation that would explain the clustering of these individuals. Exome sequencing performed on 15 subjects showed that nine affected individuals from seven families (including the original JBTS family) carried rare compound-heterozygous mutations in C5ORF42. Two missense variants (c.4006C>T [p.Arg1336Trp] and c.4690G>A [p.Ala1564Thr]) and a splicing mutation (c.7400+1G>A), which causes exon skipping, were found in multiple subjects that were not known to be related, whereas three other truncating mutations (c.6407del [p.Pro2136Hisfs∗31], c.4804C>T [p.Arg1602∗], and c.7477C>T [p.Arg2493∗]) were identified in single individuals. None of the unaffected first-degree relatives were compound heterozygous for these mutations. Moreover, none of the six putative mutations were detected among 477 French Canadian controls. Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS

Additional file 1: of Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

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