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    Exploring metabolic dysfunction-associated steatotic liver disease in lean individuals from Chile: Analysis of metabolic and genetic parameters
    Ayala Valverde, María; Arrese, Marco; Pontificia Universidad Católica de Chile. Facultad de Medicina
    Introduction: Steatotic liver disease associated with metabolic dysfunction (MASLD) is the most common liver disease in the world. Obesity is the most relevant risk factor, but MASLD can also be observed in people with normal weight. Aim: This study aimed to analyze the features of MASLD in Chilean patients with normal body mass index (BMI) and particularly the frequency of the rs738409 risk polymorphism in Chilean individuals with hepatic steatosis. Methods: A cross-sectional study was conducted involving 181 randomly selected participants diagnosed with MASLD from the prospective Maule Cohort (MAUCO). Participants were categorized into lean, overweight, and obese groups based on their BMI. The presence of the rs738409 polymorphism was examined using Sanger sequencing. Statistical analyses of clinical data and genotypes encompassed Fisher's exact test, Chi-square test, Kruskal-Wallis test, and prevalence analysis. Results: 31.49% (57) were classified as thin, 36.3% (61) as overweight and 39.8% (67) as obese. Apart from higher ALT levels (p=0.004) and body fat percentage in obese subjects, no significant differences were found between the groups in terms of clinical characteristics or comorbidities. The allelic frequency of rs738409 was 77.1%, 83.6% and 82.5% in lean, overweight, and obese subjects, respectively, with no significant differences evident. Conclusions: In this sample of Chilean subjects with MASLD there were no significant differences linked to BMI with respect to the clinical characteristics of MASLD or the allele frequency of rs738409. Nevertheless, lean subjects with MASLD share cardiometabolic characteristics when compared to overweight and obese individuals.
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    Metabolic effects on lung parenchyma of chronic hypoxia secondary to its extrinsic compression in an animal model of congenital diaphragmatic hernia
    (2024) Ferrer Márquez, Fernando Andrés; Carvajal C., Jorge A.; Pontificia Universidad Católica de Chile. Escuela de Medicina
    Congenital diaphragmatic hernia (CDH) occurs as a consequence of abnormal development of the transverse septum and incomplete closure of the pleuroperitoneal canals that occurs between the 6th and 10th week of gestation, resulting in herniation of the abdominal viscera through the diaphragmatic defect. The incidence of CDH is 1.93/10.000 births in North America, with an overall 45.89% mortality in the first year of life. In other latitudes of the world, it is similar, with a prevalence, for example, in Canada of 3.38 per 10,000 and in Chile of 2.1 per 10,000 live births, with a mortality rate in the first year of life between 45 and 65%. Despite all the advances of the last 20 years in maternal-fetal medicine, neonatology, and pediatric surgery, mortality remains high at 45-65% in CDH patients. In the prenatal period, timely diagnosis and the attempt to classify fetuses with CDH according to their risk of death and prognosis have been a constant challenge in maternalfetal medicine (MFM). Even advanced ventilatory and circulatory support techniques, such as extracorporeal membrane oxygenation (ECMO), used in the neonatal period have not significantly influenced the mortality rate of CDH.