Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. This study presents an in-depth clinico-biological analysis of 20 newly reported individuals with BCL11B-RD, coupled with a characterization of genome-wide DNA methylation patterns of this genetic condition.

Methods: Through an international collaboration, clinical and molecular data from 20 individuals were systematically gathered, and a comparative analysis was conducted between this series and existing literature.

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.

Introduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In certain situations, genetic counselling in particular, a physical exam is not required.

"Home alone!" influence of nest parental attendance on offspring behavioral and hormonal stress responses in an Antarctic seabird, the snow petrel (Pagodroma nivea).

In altricial species, parents brood their chicks constantly before leaving them unattended sometimes for extended periods when they become thermally independent. During this second phase, there is sometimes important inter-individual differences in parental attendance and the fitness costs and benefits of parental strategies have previously been extensively investigated. However, the impact of parental presence on offspring behaviors and stress physiology has been overlooked.

Does urbanization cause stress in wild birds during development? Insights from feather corticosterone levels in juvenile house sparrows ().

Urban landscapes are associated with abiotic and biotic environmental changes that may result in potential stressors for wild vertebrates. Urban exploiters have physiological, morphological, and behavioral adaptations to live in cities. However, there is increasing evidence that urban exploiters themselves can suffer from urban conditions, especially during specific life-history stages.