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.
Aim: 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).
Mortality outcomes of children with isolated neonatally operated congenital heart defects (CHDs) born with a low (LBW), moderately low (MLBW) or very-low birthweight (VLBW) remain ambiguous. We searched Medline and Embase (inception until October 2021) and included studies that evaluated early mortality. The risk of bias was assessed using the Critical Appraisal Skills Program cohort checklist.
View Article and Find Full Text PDFBackground & Aim: The canalicular bile salt export pump (BSEP/ABCB11) of hepatocytes is the main adenosine triphosphate (ATP)-binding cassette (ABC) transporter responsible for bile acid secretion. Mutations in ABCB11 cause several cholestatic diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) often lethal in absence of liver transplantation. We investigated in vitro the effect and potential rescue of a BSEP mutation by ivacaftor, a clinically approved cystic fibrosis transmembrane conductance regulator (CFTR/ABCC7) potentiator.
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