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Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering
Clin Genet. 2023 May 26. doi: 10.1111/cge.14363. Online ahead of print.ABSTRACTCHARGE syndrome, due to CHD7 pathogenic variations, is an autosomal dominant disorder characterized by a large spectrum of severity. Despite the great number of variations reported, no clear genotype-to-phenotype correlation has been reported. Unsupervised machine learning and clustering was undertaken using a retrospective cohort of 42 patients, after deep radiologic and clinical phenotyping, to establish genotype-phenotype correlation for CHD7-related CHARGE syndrome. It resulted in three clusters showing phenotypes of different severities. Wh...
Source: Clinical Genetics - May 27, 2023 Category: Genetics & Stem Cells Authors: J érémy Dana Guillaume Dorval Christine Saint Martin Kahina Belhous Raphael Levy Sandrine Marlin Isabelle De Bie Manon Mautret-Godefroy Antonio Rausell Marl ène Rio Elise Boucher-Brischoux Tania Atti é-Bitach Nathalie Boddaert V éronique Pingault Source Type: research

[ASAP] Ammonia Solvation of Alkaline Earth Dications: Mg(II), Ca(II), Sr(II), and Ba(II); Hybrid Density Functional Theory Born –Oppenheimer Molecular Dynamics Studies
The Journal of Physical Chemistry ADOI: 10.1021/acs.jpca.2c08432 (Source: Journal of Physical Chemistry A)
Source: Journal of Physical Chemistry A - April 7, 2023 Category: Chemistry Authors: C. I. Leo ́n-Pimentel, H. Saint-Martin, and A. Ramírez-Solís Source Type: research

Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia
This study aims to review imaging, clinical and genetic features and underlying etiologies of a cohort of children with PCH on imaging. We systematically reviewed brain images and clinical charts of 38 patients with radiologic evidence of PCH. Our cohort included 21 males and 17 females, with ages ranging between 8 days to 15 years. All individuals had pons and cerebellar vermis hypoplasia, and 63% had cerebellar hemisphere hypoplasia. Supratentorial anomalies were found in 71%. An underlying etiology was identified in 68% and included chromosomal (21%), monogenic (34%) and acquired (13%) causes. Only one patient had patho...
Source: Cerebellum - March 27, 2023 Category: Neuroscience Authors: Rohaya Binti Mohamad Zakaria Maisa Malta Felixe Pelletier Nassima Addour-Boudrahem Elana Pinchefsky Christine Saint Martin Myriam Srour Source Type: research

Longitudinal changes in cardiorespiratory fitness among firefighters based on a fixed 12.0 MET standard and an age-adjusted fitness standard
CONCLUSION: After eight years, the prevalence of fit FFs decreased by 30.5% based on the fixed standard, while this reduction was only 7% when using an age-adjusted standard.PMID:36938771 | DOI:10.3233/WOR-220608 (Source: Work)
Source: Work - March 20, 2023 Category: Occupational Health Authors: Rosenkranz Maciel Nogueira Daniel Rodrigues Ferreira Saint-Martin Kevin Alves Barreto Edgard M K Von Koenig Soares Denise L Smith Guilherme E Molina Luiz Guilherme Grossi Porto Source Type: research

[ASAP] Entropic Effects on the Aqueous Microsolvation of Protonated Glycine and Protonated β‑Alanine. Hybrid Density Functional Theory Born–Oppenheimer Molecular Dynamics Studies
The Journal of Physical Chemistry ADOI: 10.1021/acs.jpca.2c07476 (Source: The Journal of Physical Chemistry A)
Source: The Journal of Physical Chemistry A - February 15, 2023 Category: Chemistry Authors: Iva ́n Eliezer Romero-Ramírez, Alejandro Ramírez-Solís, and Humberto Saint-Martin Posada Source Type: research

The monthly incidence of abusive head trauma, inflicted skeletal trauma, and unexplained skin lesion in children in six French university hospitals during the COVID-19 pandemic
CONCLUSION: A significant increase in AHT was observed during the months with lockdowns and curfews during the COVID-19 pandemic. This highlights the need for developing a national strategy to prevent physical abuse in children in this context.PMID:36758374 | DOI:10.1016/j.chiabu.2023.106063 (Source: Child Abuse and Neglect)
Source: Child Abuse and Neglect - February 9, 2023 Category: Child Development Authors: Sandra Obry Elodie Roman Elsa Tavernier Nathalie Boutry Antoine Delval Marie Blouet Anca Tanase Marie Noelle De Milly Marianne Alison Julie Vial Pauline Saint Martin Catherine Adamsbaum Baptiste Morel Source Type: research

The monthly incidence of abusive head trauma, inflicted skeletal trauma, and unexplained skin lesion in children in six French university hospitals during the COVID-19 pandemic
CONCLUSION: A significant increase in AHT was observed during the months with lockdowns and curfews during the COVID-19 pandemic. This highlights the need for developing a national strategy to prevent physical abuse in children in this context.PMID:36758374 | PMC:PMC9884623 | DOI:10.1016/j.chiabu.2023.106063 (Source: Child Abuse and Neglect)
Source: Child Abuse and Neglect - February 9, 2023 Category: Child Development Authors: Sandra Obry Elodie Roman Elsa Tavernier Nathalie Boutry Antoine Delval Marie Blouet Anca Tanase Marie Noelle De Milly Marianne Alison Julie Vial Pauline Saint Martin Catherine Adamsbaum Baptiste Morel Source Type: research

Tuberous sclerosis complex and epilepsy in infancy: prevention and early diagnosis
Arch Pediatr. 2022 Dec;29(5S):5S8-5S13. doi: 10.1016/S0929-693X(22)00284-6.ABSTRACTNumerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be refractory to medication in over 60% of cases in early presentations, and accompanied by intellectual disabilities and/or autism spectrum disorders. The emerging experimental and clinical data suggest that the molecular and cellular changes triggered by seizures, particularly during the first weeks of life, can be limited by early action. Making any effort to avoid or delay epilepsy onset i...
Source: Archives de Pediatrie - December 30, 2022 Category: Pediatrics Authors: A de Saint Martin S Napuri S Nguyen Source Type: research