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Item type:Publication, Severe
<scp>SOPH</scp>
syndrome due to a novel
<i>NBAS</i>
mutation in a
<scp>27‐year‐old</scp>
woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades(2020) ;Yves Lacassie ;Britt Johnson ;Guillermo Lay‐Son ;Rita QuintanaAndrew King12Scopus© Citations 13 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Lifestyle Habits and Health Indicators in Migrants and Native Schoolchildren in Chile(2021) ;Mónica Suárez-Reyes ;Daiana Quintiliano-Scarpelli; ;Cristian Cofré-BoladosTito Pizarro<jats:p>In Chile, the migrant population has increased in the last years. Migrants adopt behaviors of this new culture, which can have an effect on their health. Contradictory results regarding differences between migrant and native children have been reported. The aim of this study was to explore the associations between nationality with health indicator and lifestyle habits among schoolchildren in Chile. A cross-sectional and observational study with a non-probabilistic sample was conducted in 1033 children (86.4% Chilean and 13.6% migrant) from second to fourth grade of seven public schools from low-income municipalities from the Metropolitan Region, Chile. Anthropometric measurements (weight, height, waist circumference, triceps and subscapular folds), handgrip strength, and standing long jump measurements, physical activity, self-esteem and food guidelines accomplishments were determined. Migrant children presented lower body mass index (BMI), Z-BMI, body fat% and waist circumference values; and higher handgrip strength, standing long jump, and more satisfactory compliance with food guidelines than natives (p < 0.05). No significant difference for physical activity and self-esteem was observed. In the adjusted models, migrants presented lower odds for overweight/obesity, risk of abdominal obesity, low handgrip strength and unsatisfactory food guidelines accomplishment in all models (p < 0.05). The nutritional and muscular fitness of migrant children was better than that of the Chilean ones.</jats:p>1Scopus© Citations 8 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Growth of Very Low Birth Weight Infants Who Received a Liquid Human Milk Fortifier: A Randomized, Controlled Multicenter Trial(2021) ;Daniela Masoli ;Patricia Mena ;Angelica Dominguez ;Pamela RamolfoPatricia Vernal7 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Characterization of microbial communities from gut microbiota of hypercholesterolemic and control subjects(2022) ;Cristian Morales ;Gabriel Rojas ;Camilo Rebolledo ;Marcelo Rojas-HerreraRaúl Arias-Carrasco<jats:sec><jats:title>Introduction</jats:title><jats:p>In recent years, several studies have evidenced the importance of the microbiome to host physiology as metabolism regulator, along with its potential role in triggering various diseases. In this study, we analyzed the gut microbiota in hypercholesterolemic (cases) and normocholesterolemic (controls) individuals to identify characteristic microbial signature for each condition.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Stool samples were obtained from 57 adult volunteers (27 hypercholesterolemic and 30 controls). The taxonomic profiling of microbial communities was performed using high-throughput sequencing of 16S rRNA V3-V4 amplicons, followed by data analysis using Quantitative Insights Into Microbial Ecology 2 (QIIME2) and linear discriminant analysis (LDA) effect size (LEfSe).</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Significant differences were observed in weight, height, body mass index (BMI) and serum levels of triglycerides, total cholesterol and low-density lipoprotein cholesterol (LDL-C) between the groups (p&lt;0.05). LEfSe showed differentially abundant prokaryotic taxa (α=0.05, LDA score &gt; 2.0) in the group of hypercholesterolemic individuals (<jats:italic>Methanosphaera</jats:italic>, <jats:italic>Rothia</jats:italic>, Chromatiales, Clostridiales, Bacillaceae and Coriobacteriaceae) and controls (<jats:italic>Faecalibacterium</jats:italic>, <jats:italic>Victivallis</jats:italic> and <jats:italic>Selenomonas)</jats:italic> at various taxonomic levels. In addition, through the application of Phylogenetic Investigation of Communities by Reconstruction of Unobserved States 2 (PICRUSt2), the predominance of pathways related to biosynthesis in hypercholesterolemic patients was established, compared to controls in which degradation pathways were predominant. Finally, in the analysis of co-occurrence networks, it was possible to identify associations between the microorganisms present in both studied groups.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our results point out to unique microbial signatures, which likely play a role on the cholesterol metabolism in the studied population.</jats:p></jats:sec>Scopus© Citations 10 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Deficiencia e insuficiencia de vitamina D en lactantes sanos recibiendo suplementación estándar(2022) ;Paulina Bravo ;Ernesto Navarro ;Marcela Mora ;Marlene CalvaneseMarianne Taub<jats:p>La vitamina D (VD) es indispensable para el metabolismo del calcio y fósforo, su deficiencia puede causar raquitismo. En Chile se suplementa con 400 UI /diarias desde el primer mes hasta el año de vida. Objetivo: Describir las concentraciones plasmáticas de VD en lactantes sanos suplementados y secundariamente, evaluar la asociación del estatus de VD con estacionalidad y estado nutricional. Sujetos y Método: Estudio de corte transversal. Se evaluó a lactantes con lactancia materna exclusiva o mixta que acudían a controles pediátricos mensuales y recibían suplementación de VD a dosis de 400 UI diarias. A los 6 meses de edad se midió la concentración plasmática de VD, el peso y la talla. Posteriormente se clasificó el estado nutricional (peso/edad y peso/talla) según los referentes de la OMS. De acuerdo a la concentración plasmática de VD, se definió como normal ≥ 30 ng/ml, insuficiencia si esta fue entre 20 y 29 ng/ml y deficiencia < 20 ng/ml. Resultados: Se estudiaron 40 lactantes, 40% tuvieron concentraciones de VD insuficientes y 40% deficientes. En el modelo de regresión lineal múltiple, las variables que se asociaron, de modo significativo, con una menor concentración de VD fueron: el periodo del año invierno-primavera (p = 0,007) y el riesgo de desnutrición (p = 0,038). Conclusiones: La frecuencia de deficiencia e insuficiencia de VD es elevada en nuestra población suplementada, dicho déficit es mayor durante el invierno y la primavera y en sujetos con riesgo de desnutrición.</jats:p>Scopus© Citations 5 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Body Composition Changes and 10-Year Mortality Risk in Older Brazilian Adults: Analysis of Prospective Data from the SABE Study(2019) ;Manuela de Almeida Roediger ;M. de Fátima Nunes Marucci; ;C. de OliveiraJ. Licio Ferreira Santos10 1Scopus© Citations 17 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS(2019) ;Gonzalo Dominguez-Menéndez ;Helena Poggi Mayorga ;Mónica Arancibia; Alejandro Martinez-AguayoScopus© Citations 6 2