Background/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(1) Background: Breast cancer (BC) has a high incidence in Europe, particularly in older adults. Traditionally under-represented in clinical trials, this age group is often undertreated due to ageism. This study aims to characterize frail older adults (≥70 years) with BC based on a comprehensive geriatric assessment, to guide individualized treatment decision-making.
View Article and Find Full Text PDFInt J Hyg Environ Health
December 2024
Trimethoprim (TMP) and sulfamethoxazole (SMX) are bacteriostatic agents, which are co-administered to patients during infection treatment due to their synergetic effects. Once consumed, TMP and SMX end up in wastewater and are directed to municipal wastewater treatment plants (WWTPs) which fail to remove these contaminants from municipal wastewater. The discharge of WWTP effluents containing antibiotics in the environment is a major concern for public health as it contributes to the spread of antimicrobial resistance.
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