Publications by authors named "R C Mingroni-Netto"

Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously.

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There is a lack of empirical studies of out-of-pocket health expenditures associated with dyslipidemias, which are major cardiovascular risk factors, especially in underrepresented admixed populations. The study investigates associations of health costs with lipid traits, GWAS-derived genetic risk scores (GRSs), and other cardiometabolic risk factors. Data from the observational cross-sectional 2015 ISA-Nutrition comprised lifestyle, environmental factors, socioeconomic and demographic variables, and biochemical and genetic markers related to the occurrence of cardiometabolic diseases.

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Article Synopsis
  • Hearing loss is a common sensory impairment, with genetic factors causing about 50% of prelingual cases, and autosomal recessive hearing loss accounts for 70%-80% of hereditary nonsyndromic cases.
  • A study analyzed genetic data from 90 Brazilian individuals with presumed autosomal recessive hearing loss, focusing on those from consanguineous backgrounds or families with multiple affected members, while excluding common pathogenic variants.
  • The research identified causative variants in 36.7% of cases, revealing 39 different variants across 24 known hearing loss-related genes, showcasing significant genetic diversity and confirming next-generation sequencing's effectiveness in understanding this condition in the Brazilian population.
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Epidemiological studies frequently classify groups based on phenotypes like self-reported skin color/race, which inaccurately represent genetic ancestry and may lead to misclassification, particularly among individuals of multiracial backgrounds. This study aimed to characterize both global and local genome-wide genetic ancestries and to assess their relationship with self-reported skin color/race in an admixed population of Sao Paulo city. We analyzed 226,346 single-nucleotide polymorphisms from 841 individuals participating in the population-based ISA-Nutrition study.

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Background: Cardiovascular diseases (CVDs) comprise major causes of death worldwide, leading to extensive burden on populations and societies. Alterations in normal lipid profiles, i.e.

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