Browsing by Author "Mendes, Diana"
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- Base molecular da hemocromatose hereditária não-clássica em PortugalPublication . Faria, Ricardo; Silva, Bruno; Silva, Catarina; Loureiro, Pedro; Queiroz, Ana; Esteves, Jorge; Mendes, Diana; Fleming, Rita; Vieira, Luís; Gonçalves, João; Lavinha, João; Faustino, PaulaA Hemocromatose Hereditária (HH) é uma doença autossómica recessiva caracterizada pela absorção excessiva de ferro a nível intestinal e sua acumulação em órgãos vitais, podendo originar cardiomiopatia, cirrose e carcinoma hepatocelular. O correspondente diagnóstico molecular é obtido pela associação com genótipos específicos no gene HFE (homozigotia para p.Cys282Tyr ou heterozigotia composta p.Cys282Tyr/p.His63Asp). Contudo, nos países do sul da Europa, cerca de um terço dos doentes com diagnóstico clínico de HH não apresenta os referidos genótipos. Para identificar a base molecular da HH não-clássica em Portugal usaram-se metodologias de pesquisa geral de variantes genéticas (SSCP e dHPLC), Next-Generation Sequencing (NGS) e sequenciação de Sanger, cobrindo seis genes relacionados com o metabolismo do ferro em 303 doentes. Identificaram-se 69 variantes diferentes e de vários tipos, por ex. missense, nonsense, de splicing, que perturbam a transcrição do gene ou a regulação da tradução do mRNA. Seguidamente, realizaram-se estudos in silico e in vitro para esclarecer o significado etiológico de algumas das novas variantes. Concluiu-se que a base molecular desta patologia é bastante heterogénea e que a NGS é uma ferramenta adequada para efetuar a análise simultânea dos vários genes num grande número de amostras. Contudo, o estabelecimento da relevância clínica de algumas variantes requer a realização de estudos funcionais.
- Environmental and ventilation assessment in Child Day Care Centers in Porto: the ENVIRH ProjectPublication . Mendes, Ana; Aelenei, Daniel; Papoila, Ana Luísa; Carreiro-Martins, Pedro; Aguiar, Lívia; Pereira, Cristiana; Neves, Paula; Azevedo, Susana; Cano, Manuela; Proença, Carmo; Viegas, João; Silva, Susana; Mendes, Diana; Neuparth, Nuno; Teixeira, João PauloChildren attending day care centers (CDCC) have been reported to be more prone to infectious diseases when compared with those cared for at home, and are exposed to conditions that may increase the risk of allergies and asthma. Several studies revealed that consequences of poor ventilation conditions include high levels of carbon dioxide (CO2) and many other indoor pollutants commonly detected in schools. Nine child day care centers were selected randomly to participate in this study. Fifty-two classrooms were assessed for chemical, biological, physical, and allergen parameters in spring and winter seasons in these nine CDCC located in Porto, Portugal. Outdoor measurements were also conducted for comparison. Our results indicated that (i) particulate matter (PM10) median levels were above the national reference levels, both by classroom type and by season; (ii) TVOC kindergarten peak values may raise some concern; (iii) CO2 was present at high median and maximum levels during spring and winter assessment in both nurseries and kindergartens classrooms; (iv) total bacteria concentrations were 57- and 52-fold higher in the nursery and kindergarten than outdoors, respectively, for the spring season; (v) winter and spring median predicted mean vote (PMV)indices were between “neutral” (0) and “slightly cool” (≤ –1) in the thermal sensation scale for comfort situations (−2 to 2) for both types of classrooms; (vi) there were significant differences for both PMV and predicted percentage of dissatisfied (PPD) indices by season; and vii) CO2, total bacteria, and gram-negative bacteria were associated with low airflow rates. These data will help to evaluate the effectiveness of current building operation practices in child day care centers regarding indoor air quality and respiratory health.
- Indoor Allergens and Bacterial Assessment in Children Day Care EnvironmentsPublication . Mendes, Ana; Pereira, Cristiana; Aguiar, Lívia; Cano, Manuela; Mendes, Diana; Neves, Paula; Proença, Maria do Carmo; Teixeira, João Paulo
- Next-generation sequencing of hereditary hemochromatosis-related genes: novel likely pathogenic variants found in the Portuguese populationPublication . Faria, Ricardo; Silva, Bruno; Silva, Catarina; Loureiro, Pedro; Queiroz, Ana; Fraga, Sofia; Esteves, Jorge; Mendes, Diana; Fleming, Rita; Vieira, Luís; Gonçalves, João; Faustino, PaulaHereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1GNC)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5′-UTR of HAMP gene(c.-25GNA). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.
- Seasonal Variability of indoor Environment Parameters in Children Day Care CentersPublication . Mendes, Ana; Aguiar, Lívia; Mendes, Diana; Pereira, Cristiana; Neves, Paula; Silva, Susana; Cano, Manuela; Proença, Carmo; Teixeira, João Paulo
- The impact of indoor air quality and contaminants on respiratory health of older people living in long-term care residences in PortoPublication . Mendes, Ana; Papoila, Ana Luísa; Carreiro-Martins, Pedro; Bonassi, Stefano; Caires, Iolanda; Palmeiro, Teresa; Aguiar, Lívia; Pereira, Cristiana; Neves, Paula; Mendes, Diana; Botelho, Maria Amália Silveira; Neuparth, Nuno; Teixeira, João PauloBackground: persons who are 65 years or older often spend an important part of their lives indoors thus adverse indoor climate might influence their health status. Objective: to evaluate the influence of indoor air quality and contaminants on older people’s respiratory health. Design: cross-sectional study. Setting: 21 long-term care residences (LTC) in the city of Porto, Portugal. Subjects: older people living in LTC with ≥65 years old. Methods: the Portuguese version of BOLD questionnaire was administered by an interviewer to older residents able to participate (n = 143). Indoor air contaminants (IAC) were measured twice, during winter and summer in 135 areas. Mixed effects logistic regression models were used to study the association between the health questionnaire results and the monitored IAC, adjusted for age, smoking habits, gender and number of years living in the LTC. Results: cough (23%) and sputum (12%) were the major respiratory symptoms, and allergic rhinitis (18%) the main selfreported illness. Overall particulate matter up to 2.5 micrometres in size median concentration was above the reference levels both in winter and summer seasons. Peak values of particulate matter up to 10 micrometres in size (PM10), total volatile organic compounds, carbon dioxide, bacteria and fungi exceeded the reference levels. Older people exposed to PM10 above the reference levels demonstrated higher odds of allergic rhinitis (OR = 2.9, 95% CI: 1.1–7.2). Conclusion: high levels of PM10 were associated with 3-fold odds of allergic rhinitis. No association was found between indoor air chemical and biological contaminants and respiratory symptoms.
- Understanding differences in cervical cancer incidence in Western Europe: comparing Portugal and EnglandPublication . Mendes, Diana; Mesher, David; Pista, Angela; Baguelin, Marc; Jit, MarkCervical cancer incidence has decreased over time in England particularly after the introduction of organized screening. In Portugal, where opportunistic screening has been widely available with only slightly lower coverage than that of the organized programme in England, rates of cervical cancer have been higher than in England. We compared the burden of cervical cancer, risk factors and preventive interventions over time in both countries, to identify elements hindering the further decline in incidence and mortality in Portugal.