Publications by authors named "V Abadie"
Objectives: To prospectively assess, using polysomnography (PSG), the evolution in obstructive sleep apnea (OSA) in infants with Robin Sequence (RS) during their first year of life and to evaluate the role of PSG in OSA treatment.
Methods: Prospective and longitudinal study conducted in 2 tertiary hospitals (2018-2021). Data from 2 PSG (PSG1 0-3 months of life, PSG2 6-10 months of life) performed in RS infants in different sleep positions/conditions (without treatment: supine [SP]; with treatment: lateral [LP], prone [PP], respiratory support) were analyzed.
Article Synopsis
- - POLG deficiency is the most common cause of nuclear-encoded mitochondrial disorders, leading to a range of overlapping symptoms from infancy to adulthood, as seen in a study of 40 children with biallelic pathogenic variants.
- - The study identified three main clinical patterns (neurologic, hepatic, gastrointestinal), with 24 patients requiring urgent care mainly due to severe neurologic issues like seizures and epilepsy.
- - Most children with hepatic symptoms had the earliest onset and shortest survival rates, while those with gastrointestinal issues had milder symptoms and lived longer; overall, the prognosis was poor, with many fatalities occurring by age 10.
Celiac disease (CeD) is a gluten-induced enteropathy that develops in genetically susceptible individuals upon consumption of cereal gluten proteins. It is a unique and complex immune disorder to study as the driving antigen is known and the tissue targeted by the immune reaction can be interrogated. This review integrates findings gained from genetic, biochemical, and immunologic studies, which together have revealed mechanisms of gluten peptide modification and HLA binding, thereby enabling a maladapted anti-gluten immune response.
View Article and Find Full Text PDFStrategies that modulate antigen delivery are being tested to reverse autoimmunity.
View Article and Find Full Text PDFAim: We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release upper airway obstruction.
Methods: We included children with isolated RS or RS associated with Stickler syndrome who were aged 15 months to 6 years. We used the French version of the Child Development Inventory and calculated the developmental quotient (DQ) for eight different domains and the global DQ (DQ-global).