The study evaluates the nutritional and metabolic profile of the adult population of the Xingu Indigenous Territory by gender and base hub. It was developed in 18 villages from 2017 to 2019. Anthropometry and clinical, physical examinations were conducted in loco in individuals over 18.
View Article and Find Full Text PDFThis study aimed to evaluate the body composition of the Khisêdjê, an Indigenous people residing in the Xingu Indigenous Territory, and compare it to the results obtained by anthropometry. One hundred seventy-nine individuals aged above 20 of both genders were included. The nutritional status was classified per the cutoff proposed by the WHO (1995).
View Article and Find Full Text PDFBackground/objectives: The associations between low birth weight (LBW) and the aggregation of metabolic risk factors (MRF) in youth remain ambiguous. Thus, this study analysed the interrelationship among MRF, LBW, and behavioural factors in adolescents.
Methods: The sample of the present cross-sectional study comprised 491 youth (229 males, 262 females) aged 14-17 years.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDF