Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.

Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.

Long-term mitochondrial and metabolic impairment in lymphocytes of subjects who recovered after severe COVID-19.

The underlying mechanisms explaining the differential course of SARS-CoV-2 infection and the potential clinical consequences after COVID-19 resolution have not been fully elucidated. As a dysregulated mitochondrial activity could impair the immune response, we explored long-lasting changes in mitochondrial functionality, circulating cytokine levels, and metabolomic profiles of infected individuals after symptoms resolution, to evaluate whether a complete recovery could be achieved. Results of this pilot study evidenced that different parameters of aerobic respiration in lymphocytes of individuals recuperated from a severe course lagged behind those shown upon mild COVID-19 recovery, in basal conditions and after simulated reinfection, and they also showed altered glycolytic capacity.

Serum miR-365b-5p/miR-222-5p as a potential diagnostic biomarker for long-term weight loss in patients with morbid obesity after bariatric surgery.

Background: The successful weight loss following bariatric surgery is not achieved in all patients with morbid obesity (MO). This study aims to determine whether a serum miRNA profile can predict this outcome.

Design: Thirty-three patients with MO were classified in "Good Responders" (GR, percentage of excess weight loss (%EWL) ≥ 50 %) or "Non-Responders" (NR, %EWL < 50 %) according to the %EWL 5-8 year following bariatric surgery.

Pre-operative DNA methylation marks as predictors of weight loss outcomes after sleeve gastrectomy.

Objective: Although DNA methylation has been suggested to be a potential predictor of the progression of obesity and obesity-related diseases, little is known about its potential role as predictive marker of successful weight loss after bariatric surgery.

Methods: 20 patients who underwent sleeve gastrectomy were classified according to the percentage of excess weight loss (%EWL) 1 year after bariatric surgery, using 60% as the cut-off point. Blood DNA methylation was analyzed prior to surgery using the Infinium Methylation EPIC Bead Chip array-based platform.

Interactions between the gut microbiome and DNA methylation patterns in blood and visceral adipose tissue in subjects with different metabolic characteristics.

Background: The gut microbiome has been reported to induce epigenetic modifications in the host, which may be involved in the pathophysiology of metabolic diseases.

Objective: To evaluate the potential interactions between the gut microbiome and DNA methylome in subjects with different metabolic characteristics.

Methods: Sixty-four participants with different metabolic characteristics (i.