Background: A large number of symptomatic individuals with central sleep apnea (CSA) in clinical practice have an indication for adaptive servo-ventilation (ASV) therapy.
Research Question: What are the effects of ASV therapy on sleep quality and PROMs in patients with CSA across a range of devices and indications.
Methods: This prospective, multicenter, observational cohort study was conducted in France and enrolled participants from June 2017 to February 2020.
Alterations in tricarboxylic acid (TCA) cycle metabolism are associated with hepatic metabolic disorders. Elevated hepatic acetate concentrations, often attributed to high caloric intake, are recognized as a pivotal factor in the etiology of obesity and metabolic syndrome. Therefore, the assessment of acetate breakdown and TCA cycle activity plays a central role in understanding the impact of diet-induced alterations on liver metabolism.
View Article and Find Full Text PDFShprintzen-Goldberg-syndrome (SGS) is caused by pathogenic exon 1 variants of SKI. Symptoms include dysmorphic features, skeletal and cardiovascular comorbidities, and cognitive and developmental impairments. We delineated the neurodevelopmental and behavioral features of SGS, as they are not well-documented.
View Article and Find Full Text PDFAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.
View Article and Find Full Text PDFBackground: The need for anatomic lateral ligament reconstruction of the ankle continues to grow. This procedure usually requires a gracilis autograft or in some cases an allograft. Siegler et al.
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