Enquête nationale sur la prévalence des troubles mentaux en Égypte : étude préliminaire RÉSUMÉ Cette étude constitue une première étape de l'enquête nationale sur la prévalence des troubles mentaux en Égypte. Nous avons réalisé une enquête auprès des ménages par porte à porte dans cinq régions d'Égypte et avons interrogé 14 640 adultes âgés de 18 à 64 ans. Les troubles mentaux ont été diagnostiqués sur la base de l'interrogatoire MINI-Plus. La prévalence globale a été estimée à 16,93 % de la population adulte étudiée. Les principaux problèmes étaient des troubles de l'humeur (6,43 %), des troubles anxieux (4,75 %) et des troubles multiples (4,72 %). Les troubles mentaux étaient associés à des facteurs sociodémographiques (par exemple le fait d'être une femme, de ne pas avoir de travail et d'être divorcé) et à des maladies physiques (par exemple une cardiopathie, une maladie rénale ou une hypertension).
Identifying cancer predisposition syndromes in children with tumors is crucial, yet few clinical guidelines exist to identify children at high risk of having germline mutations. The McGill Interactive Pediatric OncoGenetic Guidelines project aims to create a validated pediatric guideline in the form of a smartphone/tablet application using algorithms to process clinical data and help determine whether to refer a child for genetic assessment. This paper discusses the initial stages of the project, focusing on its overall structure, the methodology underpinning the algorithms, and the upcoming algorithm validation process.
Key PointsEngineered human models of high-fatality pediatric leukemia are relevant to uncover disease biomarkers and therapeutic vulnerabilities. NUP98-KDM5A–associated AMKL expresses SELP, MPIG6B, and NEO1 biomarkers and is sensitive to pharmacologic inhibition with ruxolitinib.
Over 10% of children with Wilms tumor (WT) have an underlying cancer predisposition syndrome (CPS). Cognizant of increasing demand for genetic evaluation and limited resources across health care settings, there is an urgent need to rationalize genetic referrals for this population. The McGill Interactive Pediatric OncoGenetic Guidelines study, a Canadian multi‐institutional initiative, aims to develop an eHealth tool to assist physicians in identifying children at elevated risk of having a CPS. As part of this project, a decisional algorithm specific to WT consisting of five tumor‐specific criteria (age <2 years, bilaterality/multifocality, stromal‐predominant histology, nephrogenic rests, and overgrowth features) and universal criteria including features of family history suspicious for CPS and congenital anomalies, was developed. Application of the algorithm generates a binary recommendation—for or against genetic referral for CPS evaluation. To evaluate the algorithm's sensitivity for CPS identification, we retrospectively applied the tool in consecutive pediatric patients (n = 180) with WT, diagnosed and/or treated at The Hospital for Sick Children (1997–2016). Odds ratios were calculated to evaluate the strengths of associations between each criterion and specific CPS subtypes. Application of the algorithm identified 100% of children with WT and a confirmed CPS (n = 27). Age <2 years, bilaterality/multifocality, and congenital anomalies were strongly associated with pathogenic variants in WT1. Presence of >1 overgrowth feature was strongly associated with Beckwith‐Wiedemann syndrome. Stromal‐predominant histology did not contribute to CPS identification. We recommend the incorporation of the WT algorithm in the routine assessment of children with WT to facilitate prioritization of genetic referrals in a sustainable manner.
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