Search

Thermal stress is a factor that must be considered, particularly in working environments where severe microclimatic conditions can lead to a loss of well-being or, in the worst-case scenario, to worker health damage. When it comes to thermal comfort, the best conditions for ensuring worker activity, productivity, and well-being include not only the proper design of spaces and cooling/heating systems, but also constant, real-time monitoring of the worker's physical condition. This work aims to present a complete system comprising various components capable not only of ensuring the worker's thermal comfort through the use of innovative textiles for optimal heat exchange between the individual and the environment, but also of continuously monitoring certain physiological parameters useful in determining whether the worker is subject to thermal stress. The system developed also allows the worker to be warned in the event of thermal stress and provides control and analysis tools to safety operators. This work, in particular, provides ample space for the description and validation of the textile component, in addition to presenting the system architecture and describing the main components. Finally, the wireless sensors designed to monitor physiological parameters are described and validated, and a brief functional validation of some of the architecture's software components is presented.

Resumen Introduccion y objetivos Los polimorfismos de nucleotido unico situados en un lugar de union de microacidos ribonucleicos (miARN) pueden tener diferentes efectos en la expresion genica, y ello puede influir en el riesgo de enfermedad. Este estudio tiene como objetivo evaluar la asociacion existente entre los polimorfismos de nucleotido unico y los haplotipos presentes en la region 3’UTR del gen GATA4 y el riesgo de cardiopatia congenita. Metodos Se utilizaron algoritmos de bioinformatica para analizar los polimorfismos de nucleotido unico en los presuntos lugares de union de miARN en la region 3’UTR del gen GATA4 y para calcular la diferencia de energia de hibridacion libre (ΔFE, kcal/mol) para cada alelo de tipo natural (wild-type) en comparacion con cada variante alelica. Resultados Formaron la poblacion de estudio 146 pacientes caucasicos (73 varones; edad, 6,68 ± 7,79 anos) y 265 recien nacidos sanos (147 varones). Se considero que la suma de todos los ΔFE predecia la importancia biologica de los polimorfismos de nucleotido unico al unirse a mas miARN. A continuacion se determino el genotipo de los 4 polimorfismos (+1158 C > T, + 1256 A > T, + 1355 G > A, +1521 C > G) que tenian el valor predicho de ΔFE total mas alto (9,91, 14,85, 11,03 y 21,66 kcal/mol respectivamente) en un estudio de casos y controles (146 pacientes y 250 controles). Al aplicar una correccion por multiplicidad de pruebas, tan solo el alelo +1158 T mostro una diferencia significativa entre los pacientes y los controles. El analisis de los haplotipos puso de manifiesto que el haplotipo T-T-G-C (mas infrecuente en los pacientes con cardiopatias congenitas que en los controles) se asociaba a una disminucion del riesgo significativa (p = 0,03), mientras que el haplotipo muy infrecuente C-A-A-C, que se daba de manera muy poco comun en los controles (0,3%) en comparacion con los pacientes con la enfermedad (2,4%), se asociaba a un aumento de 4 veces en el riesgo de enfermedad (p = 0,04). Conclusiones Las variantes frecuentes de la region 3’UTR del gen GATA4 interaccionan de manera conjunta y con ello afectan a la susceptibilidad a la cardiopatia congenita, probablemente mediante la alteracion de la regulacion postranscripcional de los miARN.

We report the clinical presentation and genetic screening of 2 patients with thoracic aortic aneurysms. A novel TGFBR2 mutation in the 5'untranslated region (c.-59C>T) was identified in a 31-year-old man with a Stanford type A aortic dissection. Bioinformatics tools showed that c.-59C>T variant was predicted to affect exonic splicing enhancer, as validated by quantitative real-time RT-PCR, revealing a sixfold increase of TGFBR2 mRNA in aneurysmal aortic tissue collected during surgery. A previously described missense mutation, p.E239K, in the SMAD3 gene was identified in a 60-year-old man who presented with diffuse vasculopathy. These findings suggest that the features of aneurysmal disease extending beyond the ascending aorta may help to target SMAD3 genetic screening and that alterations in the core splicing machinery can contribute to aneurysmal disease.

Somatic mutations and dysregulation by microRNAs (miRNAs) may have a pivotal role in the Congenital Heart Defects (CHDs). The purpose of the study was to assess both somatic and germline mutations in the GATA4 and NKX2.5 genes as well as to identify 3'UTR single nucleotide polymorphisms (SNPs) in the miRNA target sites. We enrolled 30 patients (13 males; 13.4±8.3 years) with non-syndromic CHD. GATA4 and NKX2.5 genes were screened in cardiac tissue of sporadic and in blood samples of familial cases. Computational methods were used to detect putative miRNAs in the 3'UTR region and to assess the Minimum Free Energy of hybridization (MFE, kcal/mol). Difference of MFEs (ΔMFE) ≥4 kcal/mol between alleles was considered biologically relevant on miRNA binding. The sum of all ΔMFEs (|ΔMFEtot|=∑|ΔMFE|) was calculated in order to predict the biological importance of SNPs binding more miRNAs. No evidence of novel GATA4 and NKX2.5 mutations was found both in sporadic and familial patients. Bioinformatic analysis revealed 27 putative miRNAs binding to identified SNPs in the 3'UTR of GATA4. ΔMFE ≥4 kcal/mol between alleles was obtained for the +354A>C (miR-4299), +587A>G (miR-604), +1355G>A (miR-548v, miR-139-5p) and +1521C>G (miR-583, miR-3125, miR-3928) SNPs. The +1521C>G SNP showed the highest ΔMFEtot (21.66 kcal/mol). Luciferase reporter assays indicated that miR-583 was dose-dependently effective in regulating +1521 C allele compared with +1521 G allele. Based on the analysis of 100 CHD cases and 204 healthy newborns, the +1521 G allele was also associated with a lower risk of CHD (OR=0.5, 95% CI 0.3-0.9, p=0.03), likely due to the relatively low binding of the miRNA and high levels of protein. These results suggest that common SNPs in the 3'UTR of GATA4 alter miRNA gene regulation contributing to the pathogenesis of CHDs.