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1.
Adv Respir Med ; 92(4): 291-299, 2024 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-39194420

RESUMEN

Severe inherited alpha-1 antitrypsin deficiency (AATD) is an autosomal genetic condition linked to chronic obstructive pulmonary disease (COPD). The significance of heterozygous, milder deficiency variants (PiSZ, PiMZ, PiMS) is less clear. We studied AATD genotypes in 145 children (up to 72 months old) with assessed wheezing severity using the Pediatric Respiratory Assessment Measure (BCCH PRAM score). A control group of 74 children without airway obstruction was included. AAT concentration and Pi phenotype were determined from dry blood spot samples using nephelometry and real-time PCR; PiS and PiZ alleles were identified by isoelectrofocusing. Among the wheezers, the Pi*S allele incidence was 2.07% (3 cases) and the Pi*Z allele was 6.9% (10 cases). The Pi*Z allele frequency was higher in wheezers compared to controls (44.8% vs. 20.27%) and the general Lithuanian population (44.8% vs. 13.6%) and was similar to adult COPD patients in Lithuania: Pi*S 10.3% vs. 15.8% and Pi*Z 44.8% vs. 46.1%. No association was found between AAT genotypes and wheezing severity. Finding that wheezer children exhibit a frequency of Z* and S* alleles like that found in adults with COPD suggests a potential genetic predisposition that links early wheezing in children to the development of COPD in adulthood. Larger cohort studies are needed to confirm this finding.


Asunto(s)
Alelos , Ruidos Respiratorios , Deficiencia de alfa 1-Antitripsina , alfa 1-Antitripsina , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , alfa 1-Antitripsina/genética , alfa 1-Antitripsina/sangre , Deficiencia de alfa 1-Antitripsina/genética , Deficiencia de alfa 1-Antitripsina/epidemiología , Frecuencia de los Genes , Genotipo , Lituania/epidemiología , Prevalencia , Enfermedad Pulmonar Obstructiva Crónica/genética , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Ruidos Respiratorios/genética
2.
Eur J Pediatr ; 181(6): 2469-2480, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35312840

RESUMEN

The school environment is crucial for the child's health and well-being. On the other hand, the data about the role of school's aerosol pollution on the etiology of chronic non-communicable diseases remain scarce. This study aims to evaluate the level of indoor aerosol pollution in primary schools and its relation to the incidence of doctor's diagnosed asthma among younger school-age children. The cross-sectional study was carried out in 11 primary schools of Vilnius during 1 year of education from autumn 2017 to spring 2018. Particle number (PNC) and mass (PMC) concentrations in the size range of 0.3-10 µm were measured using an Optical Particle Sizer (OPS, TSI model 3330). The annual incidence of doctor's diagnosed asthma in each school was calculated retrospectively from the data of medical records. The total number of 6-11 years old children who participated in the study was 3638. The incidence of asthma per school ranged from 1.8 to 6.0%. Mean indoor air pollution based on measurements in classrooms during the lessons was calculated for each school. Levels of PNC and PMC in schools ranged between 33.0 and 168.0 particles/cm3 and 1.7-6.8 µg/m3, respectively. There was a statistically significant correlation between the incidence of asthma and PNC as well as asthma and PMC in the particle size range of 0.3-1 µm (r = 0.66, p = 0.028) and (r = 0.71, p = 0.017) respectively. No significant correlation was found between asthma incidence and indoor air pollution in the particle size range of 0.3-2.5 and 0.3-10 µm.   Conclusion: We concluded that the number and mass concentrations of indoor air aerosol pollution in primary schools in the particle size range of 0.3-1 µm are primarily associated with the incidence of doctor's diagnosed asthma among younger school-age children. What is Known: • Both indoor and outdoor aerosol pollution is associated with bronchial asthma in children. What is New: • The incidence of bronchial asthma among younger school age children is related to indoor air quality in primary schools. • Aerosol pollutants in the size range of 0.3-1 µm in contrast to larger size range particles can play major role in the etiology of bronchial asthma in children.


Asunto(s)
Contaminantes Atmosféricos , Contaminación del Aire Interior , Asma , Aerosoles/efectos adversos , Contaminantes Atmosféricos/análisis , Contaminación del Aire Interior/efectos adversos , Contaminación del Aire Interior/análisis , Asma/epidemiología , Asma/etiología , Niño , Estudios Transversales , Monitoreo del Ambiente , Humanos , Estudios Retrospectivos
3.
Acta Med Litu ; 28(1): 6-18, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34393624

RESUMEN

Tobacco has long been known to be one of the greatest causes of morbidity and mortality in the adults, but the effects on the foetus and young children, which are lifelong, have been less well appreciated. Developing from this are electronic nicotine delivery systems or vapes, promulgated as being less harmful than tobacco. Nicotine itself is toxic to the foetus, with permanent effects on lung structure and function. Most vapes contain nicotine, but they also contain many other compounds which are inhaled and for which there are no toxicity studies. They also contain known toxic substances, whose use is banned by European Union legislation. Accelerating numbers of young people are vaping, and this does not reflect an exchange of vapes for cigarettes. The acute toxicity of e-cigarettes is greater than that of tobacco, and includes acute lung injury, pulmonary haemorrhage and eosinophilic and lipoid pneumonia. Given the worse acute toxicity, it should be impossible to be complacent about medium and long term effects of vaping. Laboratory studies have demonstrated changes in lung proteomics and the innate immune system with vaping, some but not all of which overlap with tobacco. It would be wrong to consider vapes as a weaker form of tobacco, they have their own toxicity. Children and young people are being targeted by the vaping industry (which is largely the same as the tobacco industry), including on-line, and unless an efficient legislative program is put in place, a whole new generation of nicotine addicts will result.

4.
Pediatr Pulmonol ; 54(9): 1474-1478, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31298815

RESUMEN

BACKGROUND: There is an association between persistent preschool wheezing phenotypes and school-age asthma. These wheezing/asthma phenotypes likely represent clinical entities having specific genetic risk factors. The SERPINA1 gene encodes α 1 -antitrypsin (AAT), and mutations in the gene are important in the pathophysiology of pulmonary diseases. We hypothesized that there might be an association between SERPINA1 gene polymorphisms and the risk of developing wheezing/school age asthma. OBJECTIVE: To examine 10 single nucleotide polymorphisms (SNPs) of SERPINA1 (rs6647, rs11832, rs17580, rs709932, rs1243160, rs2854254, rs8004738, rs17751769, rs28929470, and rs28929474) and relate them to childhood wheezing phenotypes and doctor-diagnosed asthma in the population-based Avon Longitudinal Study of Parents and Children (ALSPAC) cohort. METHODS: Wheeze data, reports of physician-diagnosed asthma and data on the SERPINA1 gene SNPs, were available for 7964 children. Binary logistic regression was used to assess the associations between allele prevalence and wheezing and asthma phenotypes. P values were adjusted to account for multiple hypotheses using the Benjamini-Hochberg false discovery rate. RESULTS: Only within a subgroup of children with asthma who had no prior diagnosis of preschool wheeze was there a trend for association between rs28929474 (Glu342Lys, Pi*Z causing AAT deficiency; P = .0058, adjusted P = .058). No SNP was associated with wheezing and asthma in those with preschool wheeze. CONCLUSION: Analyzed SNPs in SERPINA1 are not associated with wheezing/asthma phenotypes. Only rs28929474, the most common pathologic SNP (Pi*Z) in the SERPINA1 gene, might be associated with a risk of developing school-age asthma without exhibiting preschool wheeze.


Asunto(s)
Asma/genética , Mutación , Polimorfismo de Nucleótido Simple , Ruidos Respiratorios/genética , alfa 1-Antitripsina/genética , Alelos , Niño , Preescolar , Femenino , Humanos , Modelos Logísticos , Estudios Longitudinales , Masculino , Fenotipo
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