Purpose: Biallelic pathogenic leptin gene variants cause severe early-onset obesity usually associated with low or undetectable circulating leptin levels. Recently, variants have been described resulting in secreted mutant forms of the hormone leptin with either biologically inactive or antagonistic properties.
Methods: We conducted a systematic literature research supplemented by unpublished data from patients at our center as well as new in vitro analyses to provide a systematic classification of congenital leptin deficiency based on the molecular and functional characteristics of the underlying leptin variants and investigated the correlation of disease subtype with severity of the clinical phenotype.
Hormone absence or inactivity is common in congenital disease, but hormone antagonism remains controversial. Here, we characterize two novel homozygous leptin variants that yielded antagonistic proteins in two unrelated children with intense hyperphagia, severe obesity, and high circulating levels of leptin. Both variants bind to the leptin receptor but trigger marginal, if any, signaling.
View Article and Find Full Text PDFBackground: Postoperative atrial fibrillation (POAF) occurs in 20% to 40% of patients who underwent cardiac surgery and can compromise the postoperative course, especially in those with reduced left ventricular ejection fraction. The most common causes are related to surgical trauma and the high variations in volemic and electrolyte balance in the postoperative period.
Objectives: As cardioplegic solutions can significantly impact both these factors, the study aimed to assess the role of Del Nido (DN) cardioplegia on the onset of POAF.
Knowledge of the spatial distribution of European chestnut ( Mill.) cultivar diversity is essential for managing and conserving the genetic resources of this fruit tree species in Southern Italy. To this goal, the present work investigated the feasibility of mapping, through spatial representation, the distribution of genetic diversity of traditional chestnut varieties in the area of the Roccamonfina Regional Park in the Campania Region.
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