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- The impact of indoor air quality on respiratory health of older people living in nursing homes: spirometric and exhaled breath condensate assessmentsPublication . Belo, Joana; Carreiro-Martins, Pedro; Papoila, Ana L.; Palmeiro, Teresa; Caires, Iolanda; Alves, Marta; Nogueira, Susana; Aguiar, Fátima; Mendes, Ana; Cano, Manuela; Botelho, Maria A.; Neuparth, NunoIn the Portuguese Geriatric Study of the Health Effects of Indoor Air Quality in Senior Nursing Homes, we aimed to evaluate the impact of indoor air contaminants on the respiratory symptoms and biomarkers in a sample of elderly living in nursing homes. A total of 269 elderly answered a health questionnaire, performed a spirometry and 150 out of these collected an exhaled breath condensate sample for pH and nitrites analysis. The study included the evaluation of indoor chemical and microbiological contaminants. The median age of the participants was 84 (78-87) years and 70.6% were women. The spirometric data indicated the presence of airway obstruction in 14.5% of the sample. Median concentrations of air pollutants did not exceed the existing standards, although increased peak values were observed. In the multivariable analysis, each increment of 100 µg/m3 of total volatile organic compounds was associated with the odds of respiratory infection in the previous three months ( OR̂ =1.05; 95% CI: 1.00-1.09). PM2.5 concentrations were inversely associated with pH values ( β̂ = -0.04, 95%: -0.06 to -0.01, for each increment of 10 µg/m3). Additionally, a direct and an inverse association were found between total bacteria and FEV1/FVC and FVC, respectively.
- Human Biomonitoring: from group to personalized exposure assessment in occupational settingsPublication . Duca, Radu-Corneliu; Viegas, Susana; Galea, Karen S.; Louro, Henriqueta; Santonen, Tiina; Jones, Kate; Sepai, OvnairThe necessity of using human biomonitoring (HBM) for chemical health risk assessment for both general population and workers has recently been brought to the fore. HBM4EU (www.hbm4eu.eu) has the main aim to coordinate and advance HBM in Europe. One of the many intended outcomes of this project is to harmonize HBM protocols and to demonstrate the utility of HBM when assessing workers exposure to chemicals. In occupational settings, analysis of environmental matrices may be insufficient to demonstrate the amount of compounds absorbed into the body. Analysis of biomarkers in biological samples to determine the internal dose is therefore an important asset in defining prevention strategies. Nevertheless, the interpretation of the HBM results might be challenging, especially at individual level, since, the absorbed dose is determined by many factors, e.g. chemical concentration, its physicochemical properties, exposure duration as well as individual factors including up-take, metabolism etc. The specificity and sensitivity of the chosen biomarker depends e.g. on its physiological half-live in the selected biological matrix. The number of compounds having recommended Biological Limit Values (BLVs) to assist in the identification of health hazards is limited. In addition, no BLVs are available for biological matrices other than urine and blood that might be related to a longer physiological half-live of the target compounds (e.g. hair) or directly related to the target organs (e.g. Exhaled Breath Condansate). However, more research is required to develop guidelines in order to choose the most appropriate biomarker and/or matrix. Within the HBM4EU occupational studies, we intend to demonstrate that the individual analysis of biomonitoring is a useful tool for personal exposure evaluation, providing information not given by inhalation and dermal exposure assessment. HBM will highlight personal working conditions and practices, taking into account individual differences and allowing more individualized measures to prevent exposure by changing individual behavior.
- Exposição da população portuguesa a micotoxinas: o contributo da biomonitorização humanaPublication . Martins, Carla; Assunção, Ricardo; Alvito, PaulaTópicos: Micotoxinas; Biomonitorização; Avaliação de risco com dados de biomonitorização; Materiais e Métodos; Resultados e Discussão; Pontos fortes e Limitações; Conclusões.
- The use of effect biomarkers in human biomonitoring studies: exposure to hexavalent chromiumPublication . Gomes, Bruno Costa; Louro, Henriqueta; Huuskonen, Pasi; Santonen, Tiina; Huumonen, Katriina; Ndaw, Sophie; Fernández, Mariana F.; Silva, Maria JoãoHexavalent chromium, Cr(VI) is a human carcinogen (Group 1, IARC), and its expo-sure has been associated with increased lung cancer risk, particularly in exposed workers. The general population may be exposed to Cr(VI) through food, drinking water and tobacco smoke. Under the Human Biomonitoring for Europe Initiative (HBM4EU), Cr(VI) has been considered a priority substance, indicating the need for generating and analyzing data on human exposure and effects, both as single sub-stance and in mixtures. Although many epidemiological studies have reported data on human exposure to Cr(VI), comparably fewer included effect biomarkers assess-ment. However, these biomarkers are central to identify early biological effects be-fore the onset of any adverse health effect. Additionally, biomarkers provide a link between human exposure and health outcomes, when considered in an adverse outcome pathway (AOP) perspective. In this work, we present the results of a critical review on the conventional and po-tentially new biomarkers for Cr(VI) early biological effects, which may be linked to adverse health outcomes in humans. The results show that the most frequently analyzed effect biomarkers concerning Cr(VI) exposure have been those associated with oxidative stress and genotoxicity (comet and micronucleus in blood cells). Urinary 8-isoprostane, a marker of lipid pe-roxidation, has also been used to relate Cr(VI) exposure to lung cancer. More recent-ly, single-gene alterations as well as omics-based biomarkers e.g., genomic or epigenomic changes and protein signatures, have been pointed as novel effect bi-omarkers, but they still need to be further developed and validated. In the literature revision, the most important knowledge gaps have also been identi-fied and discussed, such as the need of additional mechanistic data, in the perspec-tive of building an AOP for Cr(VI) occupational exposure and lung cancer
- 9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndromePublication . Marques, Barbara; Serafim, Silvia; Pedro, Sonia; Tarelho, Ana Rita; Ferreira, Cristina; Gonçalves, Rui; Correia, HildebertoThe increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations. Interstitial deletions involving the long arm of chromosome 9 are rare but recently a microdeletion syndrome at 9q21.13 was suggested, with mental retardation, speech delay, epilepsy, autistic behaviour and moderate facial dysmorphism as the main characteristics. Here we present a male child with intellectual disability, severe speech delay, microcephaly and dysmorphic features carrying an interstitial deletion, detected by the Affymetrix Cytoscan HD microarray, of 6.56 Mb at 9q21.13q21.31 region encompassing 16 OMIM genes (arr[GRCh37] 9q21.13q21.31(76551542_83116342)x1). Among the genes in the deleted region the PRUNE2, PCSK5, RORB and TRPM6 genes are expressed in the nervous system and have been describe as being candidate genes to play a role in mental retardation or neurological disorders. Although the cohort of patients identified with deletions in this region is still small our patient phenotype partially overlaps the others described in the literature. The collection of more cases with deletion of the 9q21.13 region will help establishing a clear classification for this CNV, finding the real weight in the patient’s phenotype, delineating the genetic counseling for their families, and clearly establishing this microdeletion as a syndrome.
- Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosisPublication . Serafim, Silvia; Marques, Barbara; Correia, HildebertoChromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis. The detection of variants with clinical significance by CMA, when compared to karyotype, can increase up to 10-20% in postnatal diagnosis and up to 5-18% in prenatal diagnosis. Nevertheless CMA also detects incomplete penetrance neuro-Susceptibility Loci Copy Number Variants (SL-CNV), which although having clinical significance have an uncertain prognosis. The aim of this study is to identify from the literature a set of SLCNV, and the corresponding penetrance for each variant, determining their occurrence in our cohort of postnatal samples ran between January 2012 and August 2018 and prenatal samples ran between January 2015 and August 2018. We have established a 21 SL-CNV set, and from a total of 835 postnatal samples and 317 prenatal samples we have identified 36 and 11 cases, respectively, with a variant in one of the 21 established SLCNV. The percentage of cases with a SL-CNV is relatively similar between postnatal samples (4.5%) and prenatal samples (3.5%), although the reason of referral for the two groups is not completely overlapping and also the total number of prenatal samples represents about half of the time span of the postnatal samples, which might have underestimated their occurrence. The estimated penetrance for each of the established SL-CNV present some inter-publication variability, especially concerning samples with different phenotypes. Nevertheless some variants show concordance. Estimating the penetrance for SL-CNV, and their clinical impact for the patient or carriers in the family, is a complex task. Only time, analysis of larger cohorts, and future knowledge of genotype-environment-phenotype interactions will overcome this difficulty, decreasing uncertainty for the around 4% of patients diagnosed by CMA.