Marcela Vela‐Amieva

Development and Validation of a Targeted Metabolomic Tool for Metabotype Classification in Schoolchildren

Sheyla Karina Hernández-Ramírez, Diego Arturo Velázquez-Trejo, Eduardo Sandoval-Colín, Cristóbal Fresno et autres

Background: Metabolomic profiling can uncover metabolic differences among seemingly healthy children, providing opportunities for personalized medicine and early detection of risk biomarkers for future metabolic disorders. This study aimed to identify and internally validate metabotypes in apparently healthy schoolchildren using targeted serum …

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SNPs at the IL-2, IL-12, TNF-α and TGF-β1 regulatory gene regions are probably important for Toxoplasma gondii congenital transmission and disease severity in humans

Claudia Patricia Rico-Torres, Adriana Reyes-León, Marcela Vela‐Amieva, Mercedes Macías-Parra et autres

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Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia

Miguel Angel Alcántara‐Ortigoza, Marcela Vela‐Amieva, Ariadna González‐del Angel, Miriam E. Reyna‐Fabián et autres

Genome-wide paternal uniparental isodisomy mosaicism (GWpUPIDM) is an extremely rare condition characterized by varying proportions of an androgenetic cell line across different tissues. It is primarily associated with severe congenital hyperinsulinism (CHI), Beckwith–Wiedemann syndrome (BWS) stigmata, a high risk (69–79%) of developing …

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Gut microbiota changes in postmenopausal women with low bone density linked to serum amino acid metabolism

Adriana Becerra‐Cervera, Rogelio F. Jiménez-Ortega, Diana I. Aparicio‐Bautista, Berenice Palacios‐González et autres

Background: The gut microbiota (GM) has been linked to changes in bone mineral density (BMD), potentially contributing to the development of osteopenia or osteoporosis. Although the relationship between specific bacterial taxa and bone remodeling has been documented in various populations, data on …

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Identifying Early Metabolic Risks of Obesity in Mexican Children and Adolescents from a Semi-Rural Community in Mexico: Beyond BMI and into Biochemical and Nutritional Markers

Nurit Bistre, Sara Guillén‐López, Isabel Vera, Miriam E. Reyna‐Fabián et autres

Background: Childhood and adolescent obesity often coexist with micronutrient deficiencies and metabolic alterations, particularly in marginalized communities. Objectives: This cross-sectional study evaluated the biochemical, anthropometric, and dietary characteristics of 55 children and adolescents (ages 4–13) from Tlaltizapán, Mexico, to identify the early …

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Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center

Marcela Vela‐Amieva, Cynthia Fernández‐Lainez, Sara Guillén‐López, Lizbeth López‐Mejía et autres

gene, which causes a defective hydrolysis of arginine (Arg) to urea and ornithine. The molecular landscape of ARG1d in Mexico is poorly known. In this study, we present for the first time the clinical and genotypic overview of the largest cohort of …

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Insomnia, Cognitive Impairment, or a Combination of Both, Alter Lipid Metabolism Due to Changes in Acylcarnitine Concentration in Older Persons

Selma Karime Castillo-Vázquez, Berenice Palacios‐González, Marcela Vela‐Amieva, Isabel Ibarra‐González et autres

BACKGROUND/OBJECTIVES: Insomnia has been widely associated with cognitive impairment (CI). However, the relationship between the two entities (insomnia and CI) is poorly understood. In this context, adults with insomnia show metabolic changes, including alterations in the catabolism of branched-chain amino acids, glycerophospholipids, …

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Identifying Early Metabolic Risks of Obesity in Children and Adolescents from Tlaltizapán, Mexico: Beyond BMI and into Biochemical and Nutritional Markers

Nurit Bistre-Tajfed, Sara Guillén‐López, Isabel Vera, Miriam E. Reyna‐Fabián et autres

Childhood and adolescent obesity often coexist with micronutrient deficiencies and metabolic alterations, particularly in marginalized communities. This cross-sectional study evaluated the biochemical, anthropometric, and dietary characteristics of 55 children and adolescents (ages 4–13) from Tlaltizapán, Mexico, to identify early metabolic risk factors …

mx, br (code pays fourni par la source)

The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking

Marcela Vela‐Amieva, Timoteo Delgado‐Maldonado, Enrique Ortega-Valdez, Gildardo Rivera et autres

Methylmalonic acidemia (MMA) is a genetic condition associated with intellectual disability and a high mortality rate. It is caused by pathogenic variants in the MMUT gene, which codes methylmalonyl-CoA mutase enzyme (MUT). In the Mexican population, the variant NM_000255.4:c.322C>T or p.(Arg108Cys) is …

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Correspondence on “First year result and insights from the Mexican Rare Disease Patient Registry from Cesar E. Calvo Aspiros and Claudia Gonzaga-Jauregui

Marcela Vela‐Amieva, Cynthia Fernández‐Lainez

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Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management

Marcela Vela‐Amieva, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐del Angel, Liliana Fernández‐Hernández et autres

Biochemical phenotyping has been the milestone for diagnosing and managing patients affected by inborn errors of intermediary metabolism (IEiM); however, identifying the genotype responsible for these monogenic disorders greatly contributes to achieving these goals. Herein, whole-exome sequencing (WES) was used to determine …

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Uso de módulos nutricionales en la práctica pediátrica actual

Lizbeth López‐Mejía, Isela Núñez-Barrera, Miriam Bautista-Silva, Isabela Silva-Mladonado et autres

Los módulos nutricionales son mezclas o aislados de macronutrimentos que pueden estar enriquecidas con micronutrimentos. Se añaden generalmente en pediatría a la fórmula o a preparados enterales para aumentar el aporte energético o de algún nutrimento específico. Existen módulos de hidratos de …

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