2,591 results match your criteria: "Hôpital de Montréal pour enfants; McGill University Health Centre[Affiliation]"

The influence of positive and negative intraoperative feedback in laparoscopic simulation in pediatric urology training.

J Pediatr Urol

January 2025

Department of Pediatric Surgery and Urology, National Reference Center for Rare Urinary Tract Malformations (CRMR MARVU), ERN eUROGEN Accredited Center, Robert-Debré University Hospital, APHP, GHU North, Health Simulation Department, iLumens, Université Paris Cité, Paris, France; UMR INSERM 1141 NEURODEV, Paris, France. Electronic address:

Background And Objective: This study aimed to explore the impact of positive or negative feedback on the performance of trainees in pediatric urology during simulation exercises in pediatric laparoscopy.

Methods: Twenty-five students enrolled in a national Pediatric Urology Laparoscopy Simulation participated in the study. They performed the Fundamentals of Laparoscopic Surgery (FLS) skills, specifically peg-transfer and intracorporeal knot-tying, in a randomized study design while receiving positive or negative feedback from an attending pediatric urologist.

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Background: We evaluated 1-year engagement in pre-exposure prophylaxis (PrEP) care and associated factors among gay, bisexual, and other men who have sex with men (GBMSM) in a large cohort of oral PrEP users in the Paris region, France.

Methods: We included in this analysis cisgender GBMSM enrolled in the ANRS PREVENIR cohort study from 3 May 2017 to 28 February 2019. We categorized 1-year PrEP engagement into 4 categories: high (consistent visits, attendance, and prescription refills at months 3, 6, 9, and 12), low (missed visits or no prescription refills), disengagement (PrEP discontinuation), and lost to follow-up.

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Introduction: Cellular characteristics of induced sputum (IS) are not investigated in cystic fibrosis (CF) patients.

Objectives: This pilot study, conducted on 17 expectorating CF adolescents, compared sputa obtained the same day, in a stable period, by autogenic drainage (expectorating sputum, ES) and 4 h later after inhaling hypertonic saline (IS).

Results: No difference was noted concerning weight, volume, and percentage of dead cells between the two collection methods.

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Objective: Stimulant drug treatment in preschool-age children for attention-deficit hyperactivity disorder (ADHD) as well as the concomitant use of antipsychotic drugs is largely unstudied in terms of longitudinal outcomes. We characterized longitudinal patterns of stimulant drug use in children diagnosed for ADHD and analyzed the mental health disorders leading to add-on therapy with antipsychotics.

Method: The study population comprised of children and adolescents (age: 0-19 years) in the province of British Columbia (BC), Canada, with at least one dispensing for any psychotropic drug between 1997 and 2017 ( = 144,825).

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Chapter 7: CLINICAL FORMS AT DIFFERENT AGES OF LIFE: CHILDHOOD, PREGNANCY, LACTATION, OLD AGE.

Ann Endocrinol (Paris)

January 2025

Université Paris-Saclay, Inserm, Endocrine Physiology and Physiopathology, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Rares de l'Hypophyse HYPO, F-94270 Le Kremlin-Bicêtre, France. Electronic address:

Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia.

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Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

J Exp Med

February 2025

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.

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[Recommendations for clinical practice: Prevention and management of varicella zoster virus (VZV) infection during pregnancy and the perinatal period (extended version)].

Gynecol Obstet Fertil Senol

January 2025

Division of Virology, WHO Rubella National Reference Laboratory, Paris Saclay University Hospital, APHP, Paris, France; Université Paris-Saclay, INSERM U1184, CEA, Center for Immunology of Viral, Auto-immune, Hematological and Bacterial diseases (IMVA-HB/IDMIT), Fontenay-aux-Roses, France.

The Société de Pathologie Infectieuse de Langue Française released in 2024 a new national recommendation for clinical practice on the prevention and management of varicella zoster virus (VZV) infection during pregnancy and the perinatal period. The previous recommendation was issued in 1998, at a time of anti-VZV immunoglobulins shortage; it has hence become obsolete. This recommendation is a formalized expert consensus focusing on infectious diseases management; it is drawn up by a multidisciplinary working group (infectiologists, obstetricians, pediatricians, microbiologists, midwives, hygienists).

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SLC10A7 regulates O-GalNAc glycosylation and Ca homeostasis in the secretory pathway: insights into SLC10A7-CDG.

Cell Mol Life Sci

January 2025

Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale Et Fonctionnelle, 59000, Lille, France.

Glycans are known to be fundamental for many cellular and physiological functions. Congenital disorders of glycosylation (CDG) currently encompassing over 160 subtypes, are characterized by glycan synthesis and/or processing defects. Despite the increasing number of CDG patients, therapeutic options remain very limited as our knowledge on glycan synthesis is fragmented.

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Objective: To examine factors associated with high intensity physician-based mental health care services in a population-based sample of children and youth in Ontario, Canada.

Methods: Data from the 2014 Ontario Child Health Study (OCHS) were linked at the person-level to longitudinal health administrative databases containing physician contacts in outpatient settings, emergency departments and hospitals. Our analytical sample (15.

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Background: Postpartum anxiety (PPA) symptoms have harmful effects on child development and mother-infant interactions. Accordingly, in-depth knowledge of associated risk factors is crucial for prevention policies. This study aimed to estimate PPA symptom prevalence at 2 months and to identify associated risk factors in a representative sample of all women who gave birth in France in 2021, and in two subgroups: women with no postpartum depression (PPD) symptoms, and those with no history of mental health care.

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Children and adolescents who are being treated or have been treated for acute leukemia have a secondary immunodeficiency linked to chemotherapy, resulting in an increased risk of infections. Some of which can be prevented by vaccination but its effectiveness is not optimal during chemotherapy. Upon cessation of chemotherapy, the time required for immune reconstitution varies from three months to more than a year, depending on lymphocyte subpopulations, the patient's age, and the intensity of the treatment received.

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Prenatal Hemoglobin Concentration and Long-Term Child Neurocognitive Development.

Am J Trop Med Hyg

December 2024

UMR 261-MERIT, Institut de Recherche pour le Développement (IRD), Université Paris Cité, Paris, France.

Anemia in pregnancy, defined by a hemoglobin level (Hb) of less than 110 g/L, contributes to infant mortality and morbidity in sub-Saharan Africa. Maternal Hb changes physiologically and pathologically during pregnancy. However, the impact of these changes on long-term child neurocognitive function is unknown.

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Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).

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[Lupus under UNC93B1 surveillance].

Med Sci (Paris)

November 2024

Laboratoire Neurogénétique et neuroinflammation, Institut Imagine, Inserm UMR1163, Université Paris Cité, Paris, France.

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BackgroundWithin the International Health Regulations framework, the French High Council for Public Health was mandated in 2022 by health authorities to establish a list of priority infectious diseases for public health, surveillance and research in mainland and overseas France.AimOur objective was to establish this list.MethodsA multi-criteria decision analysis was used, as recommended by the European Centre for Disease Prevention and Control.

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Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is the absence of specific and sensible biomarkers to evaluate metabolic equilibrium. The relationship between cardiac output (Q) and oxygen consumption (VO) during incremental exercise (dQ/dVO) provides an indirect surrogate of mitochondrial function.

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[Nasosinus infections in children and adults].

Rev Prat

November 2024

Service d'ORL et chirurgie cervico-faciale, hôpital Lariboisière, AP-HP, université Paris-Cité, Paris, France.

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[Not Available].

Rev Med Suisse

November 2024

Juriste, ancien président du Comité des Droits de l'enfant aux Nations Unies.

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Biallelic Germline Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

Int J Mol Sci

November 2024

Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Laboratoire de Référence Pour les Infertilités Génétiques, APHP Hôpitaux Universitaires Paris-Saclay, Faculté de Médecine Paris Saclay, Hôpital Bicêtre, 94275 Le Kremlin-Bicêtre, France.

Article Synopsis
  • Next-generation sequencing (NGS) has helped uncover genetic causes of primary ovarian insufficiency (POI), while the reasons for diminished ovarian reserve (DOR) are less understood.
  • A 14-year-old patient with isolated DOR was found to have two frameshift mutations in the BRCA1 gene, but surprisingly showed no signs of Fanconi anemia (FA).
  • Despite the absence of FA symptoms, the patient's cells exhibited high chromosomal fragility, and studies indicated a shortened version of the BRCA1 protein was produced, suggesting that BRCA1 is crucial for ovarian health and functioning.
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Fc-Afucosylation of VAR2CSA-Specific Immunoglobulin G and Clinical Immunity to Placental Plasmodium falciparum Malaria.

J Infect Dis

November 2024

Centre for Translational Medicine and Parasitology, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.

Background: Acquired immunity to Plasmodium falciparum malaria is mainly mediated by immunoglobulin G (IgG) targeting erythrocyte membrane protein 1 (PfEMP1). These adhesins mediate infected erythrocyte (IE) sequestration, protecting IEs from splenic destruction. PfEMP1-specific IgG is therefore thought to protect mainly by inhibiting IE sequestration.

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Association Between Perinatal Factors and Childhood Lymphoma-A Pooled Analysis of the ESCALE and ESTELLE Studies (SFCE).

Pediatr Blood Cancer

February 2025

Université Paris Cité and Université Sorbonne Paris Nord, Inserm, INRAE, Center for Research in Epidemiology and StatisticS (CRESS), Epidemiology of Childhood And Adolescent Cancer (EPICEA) team, Paris, France.

Article Synopsis
  • The study investigates the link between pregnancy-related factors and the risk of childhood lymphoma, focusing on non-Hodgkin lymphoma (NHL) and Hodgkin lymphoma (HL) in a large French case-control analysis.
  • Results indicate that maternal coffee and alcohol consumption during pregnancy, as well as paternal smoking, are associated with an increased risk of childhood NHL, with a dose-response relation seen in coffee intake.
  • The research suggests that understanding these associations can improve knowledge of childhood lymphoma aetiology, although further studies are needed to confirm these findings.
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Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

J Exp Med

December 2024

Section of Paediatric Infectious Disease, Department of Infectious Disease, Faculty of Medicine, Imperial College London, London, UK.

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

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