RESUMO
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with various associated features or reported as a susceptibility factor to the development of learning disabilities and neuropsychiatric disorders. The smallest region of overlap and the phenotype of 3q29 duplications remain uncertain. We here report a French cohort of 31 families with a 3q29 duplication identified by chromosomal microarray analysis (CMA), including 14 recurrent 1.6 Mb duplications, eight overlapping duplications (>1 Mb), and nine small duplications (<1 Mb). Additional genetic findings that may be involved in the phenotype were identified in 11 patients. Focusing on apparently isolated 3q29 duplications, patients present mainly mild NDD as suggested by a high rate of learning disabilities in contrast to a low proportion of patients with intellectual disabilities. Although some are de novo, most of the 3q29 duplications are inherited from a parent with a similar mild phenotype. Besides, the study of small 3q29 duplications does not provide evidence for any critical region. Our data suggest that the overlapping and recurrent 3q29 duplications seem to lead to mild NDD and that a severe or syndromic clinical presentation should warrant further genetic analyses.
Assuntos
Duplicação Cromossômica , Cromossomos Humanos Par 3 , Variações do Número de Cópias de DNA , Fenótipo , Humanos , Feminino , Masculino , Cromossomos Humanos Par 3/genética , Duplicação Cromossômica/genética , Criança , Variações do Número de Cópias de DNA/genética , Pré-Escolar , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/patologia , Adolescente , Estudos de Coortes , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Adulto , LactenteRESUMO
OBJECTIVES: The perception of oncologists could impact the attractiveness of the specialty and dialogue between oncologists and other physicians. The aim of the study was to describe and understand the stereotypes and social representation (SR) associated with oncologists among medical students, residents and physicians in France. METHODS: This nationwide web-based survey conducted in 2021 was based on hierarchical evocation methods. Qualitative analyses were based on the Reinert method with factorial analyses. Each respondent's SR was graded from 1 to 5 (from 1: very positive SR to 5: very negative SR). RESULTS: Oncologists suffer from a rather negative SR. The negative representation was mostly related to difficulties in practising and the proximity with death and end of life. Oncologists were also associated with more positive notions like interdisciplinarity or intellectual complexity. Attendance to an oncology course was associated with a better SR of oncology (p=0.036), whereas having someone in the family practising oncology had a negative impact (p=0.028). CONCLUSIONS: SR of oncologists is rather contrasted. It was positively influenced by attendance to an oncology course, which could be an option to correct stereotypes and update on this rapidly evolving specialty.
Assuntos
Atitude do Pessoal de Saúde , Oncologistas , Estereotipagem , Estudantes de Medicina , Humanos , Estudantes de Medicina/psicologia , Estudantes de Medicina/estatística & dados numéricos , Estudos Transversais , Masculino , Feminino , França , Oncologistas/psicologia , Adulto , Médicos/psicologia , Internato e Residência , Oncologia/educação , Pessoa de Meia-Idade , Inquéritos e QuestionáriosRESUMO
Depression was already a public health issue before the Covid-19 pandemic. Use of service and treatment adequacy in medical students was poorly known. A 2021 French national study found the prevalence of 12-month major depressive disorder (MDD) was 25 % in medical school students and residents (MSSR). The main objective of our study was to measure the prevalence of service use and adequate treatment (therapy and/or recommended pharmacotherapy) and their associated factors. A national online survey was conducted in 2021. The Composite International Diagnostic Interview Short-Form questionnaire was used to assess MDD; 12-months service use and pharmacotherapy were assessed. Univariate and multivariate logistic regressions were performed between students' demographic characteristics, use of services, and treatment adequacy. Among included MSSR who experienced MDD in the last 12 months, only 32 % received adequate treatment, including 20 % with recommended pharmacotherapy. Being more advanced in medical studies and being treated both by a general practitioner and a psychiatrist were associated with receiving recommended pharmacotherapy. To our knowledge, our study is the largest to assess use of service and treatment adequacy in MSSR. Given the low percentage of depressed students receiving recommended treatment, it seems important to develop new interventions to better detect and treat MDD in MSSR.