Publications by authors named "Juan Manuel Malacara Hernandez"
Article Synopsis
- - The study investigates the genetic variants linked to severe monogenic diseases, focusing on the unknown probability (penetrance) of these variants causing disease.
- - Using exome sequencing data from over 77,000 individuals, researchers examine eight monogenic metabolic diseases, finding that rare variants have a greater impact than common polygenic scores.
- - Despite the strong effect of rare variants, the average penetrance for monogenic variant carriers is only about 60%, although incorporating polygenic variation helps improve risk prediction for certain conditions.
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.
View Article and Find Full Text PDFDevelopment and validation of a predictive model for incident type 2 diabetes in middle-aged Mexican adults: the metabolic syndrome cohort.
BMC Endocr Disord
April 2019
Background: Type 2 diabetes mellitus (T2D) is a leading cause of morbidity and mortality in Mexico. Here, we aimed to report incidence rates (IR) of type 2 diabetes in middle-aged apparently-healthy Mexican adults, identify risk factors associated to ID and develop a predictive model for ID in a high-risk population.
Methods: Prospective 3-year observational cohort, comprised of apparently-healthy adults from urban settings of central Mexico in whom demographic, anthropometric and biochemical data was collected.
The prevalence of obesity in Mexico is the highest in the world, with almost 70% of adults being classified as overweight or obese. The increased prevalence of obesity in Mexico, and globally, may be related to the changing food environment, providing increased access to highly palatable, but obesogenic, food products. One potential mechanism for this association is changing food perceptions, an area poorly studied in transitional countries.
View Article and Find Full Text PDFObjective: To determine the symptoms that women refer during peri and postmenopause.
Patients And Method: A cross-sectional study was carried out from April to December 2005; 500 women between 45 and 65 years old were included. We applied them the NR 1 questionnaire of symptoms for mature women.
Background: We assessed the auditory function of 94 patients with type 2 diabetes mellitus and 94 age- and sex-matched healthy subjects.
Methods: To study the influence of the clinical characteristics of the disease on the auditory function, after a clinical interview with ophthalmological assessment, subjects were evaluated using pure-tone audiometry, speech audiometry, auditory brainstem responses, the Michigan Diabetic Neuropathy Score and albuminuria. The mean age when diabetes was diagnosed was 42.