Browsing by Author "Aguiar, Ana"
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- Adapting to COVID-19: Insights from Portuguese residents' home-based lifePublication . Aguiar, Ana; Soares, Patricia; Barbosa, Pedro; Duarte, Raquel; Pinto, MartaBackground: The COVID-19 pandemic led to widespread lockdowns and remote work and educational practices that have impacted the lives of many families. Objective: We aimed to investigate how parents and caregivers altered their routines due to online schooling and teleworking, exploring their association with increased anxiety and depression symptoms. Methods: We conducted an online cross-sectional study and collected data through snowball sampling. We asked questions about age, gender, dwelling area, educational level, and marital status, as well as an open-ended question about teleworking and homeschooling - "Did your routine change due to your children being forced to stay home and take online classes? If so, please explain how it has influenced your personal and professional life, both positively and negatively". Thematic analysis was used to analyse the responses. Results: A total of 181 respondents, primarily women (72.4%), averaging 36.6 years old, holding bachelor's degrees (44.2%), were included. About 78.5% reported routine adjustments. Four salient themes emerged: 1) Perceived changes in professional and personal life, 2) Perceived changes in learning methods, 3) Mental health issues and 4) Perceived advantages of working from home with children at online school. Regarding mental health, 25.4% exhibited symptoms of anxiety, and 7.7% displayed depression symptoms, predominantly linked (80%) to the pandemic's impact. Conclusion: Family routines were disrupted, causing stress. In future crises, policymakers, public health experts, and researchers must acknowledge these challenges to mitigate negative consequences. Simultaneously, they should focus on strategies that enhance the positive aspects of restrictive measures and related policies.
- Avaliação da Frequência de Microdelecções AZF e alterações do cariótipo na OligospermiaPublication . Pereira, Isabel; Barros, Joana; Aguiar, Ana; Sousa, Sandra; Nunes, Joaquim; Rodrigues, Cátia; Soares, Ana Paula; Pereira-Caetano, Iris; Gonçalves, João; Calhaz Jorge, CarlosA infertilidade masculina é uma entidade complexa que afecta um número importante de homens, permanecendo a sua etiologia desconhecida em muitas situações. Alterações do cariótipo podem contribuir para diminuir a quantidade e qualidade dos espermatozóides. A elucidação de eventual base genética subjacente pode ajudar a determinar a razão da alteração espermática e abrir novas perspectivas para tratamentos eficazes. A região AZF (azoospermia factor) do cromossoma Y contém genes essenciais para a espermatogénese.
- AZF midrodeletions screening in infertile men of the Portuguese populationPublication . Pereira, Iris; Silva, Júlia; Correia, Sónia; Pinto, Maria Graça; Rangel, Ricardo; Aguiar, Ana; Nunes, Joaquim; Calhaz Jorge, Carlos; Gonçalves, JoãoAnalysis of genetic conditions associated with male infertility is, at present days, restricted to chromosome analysis, AZF Y-chromosome microdeletions screening, and to patients with hypogonadotrophic hypogonadism or with congenital absence of the vas deferens. Among different populations AZF microdeletions can explain 10-15% of the infertile phenotype of azoospermic men and 2-5% of oligozoospermic men. Here we present the results of AZF deletions screening performed in a selected group of infertile Portuguese men with idiopathic non-obstructive azoospermia or with oligozoospermia (men with other causes of male infertility, endocrinological alterations, varicocele, criptorquidism, professional risk factors, autosomal chromosomal abnormalities, were excluded for this study). Analysis was performed by Multiplex-PCR using specific STS for the three AZF regions. Microdeletion breakpoints were confirmed using a second multiplex-PCR. We analysed 865 infertile men (270 azospermic and 595 oligozoospermic with [spermatozoa]<5x106/mL) and 300 DNA samples obtained from fertile men of the Portuguese population. While AZF microdeletions were found in 27 azoospermic (10.0%) and in 22 oligozoospermic men (3.7%), in fertile men no microdeletions were detected.Our results demonstrate that AZF microdeletions are frequent among males with the infertile phenotype described above. The regions absent have prognostic value for the clinical decision and patients treatment. Genetic counselling is recommended to all patients with AZFdel. AZFcdel will be obligatorily transmitted to all male offspring by ICSI, which will seriously impair their fertility.
- Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertilityPublication . Cerván-Martín, Miriam; Tüttelmann, Frank; Lopes, Alexandra M.; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Lujan, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; Castilla, José A.; Carmen Gonzalvo, M.; Clavero, Ana; Maldonado, Vicente; Vicente, F. Javier; González-Muñoz, Sara; Guzmán-Jiménez, Andrea; Burgos, Miguel; Jiménez, Rafael; Pacheco, Alberto; González, Cristina; Gómez, Susana; Amorós, David; Aguilar, Jesus; Quintana, Fernando; Calhaz-Jorge, Carlos; Aguiar, Ana; Nunes, Joaquim; Sousa, Sandra; Pereira, Isabel; Pinto, Maria Graça; Correia, Sónia; Sánchez-Curbelo, Josvany; López-Rodrigo, Olga; Martín, Javier; Pereira-Caetano, Iris; Marques, Patricia I.; Carvalho, Filipa; Barros, Alberto; Gromoll, Jörg; Bassas, Lluís; Seixas, Susana; Gonçalves, João; Larriba, Sara; Kliesch, Sabine; Palomino-Morales, Rogelio J.; Carmona, F. DavidWe conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRβ1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.
- Intronic variation of the SOHLH2 gene confers risk to male reproductive impairmentPublication . Cerván-Martín, Miriam; Suazo-Sánchez, M. Irene; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; Castilla, José A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Maldonado, Vicente; Burgos, Miguel; Barrionuevo, Francisco J.; Jiménez, Rafael; Sánchez-Curbelo, Josvany; López-Rodrigo, Olga; Peraza, M. Fernanda; Pereira-Caetano, Iris; Marques, Patricia I.; Carvalho, Filipa; Barros, Alberto; Bassas, Lluís; Seixas, Susana; Gonçalves, João; Larriba, Sara; Lopes, Alexandra M.; Palomino-Morales, Rogelio J.; Carmona, F. David; Calhaz-Jorge, Carlos; Aguiar, Ana; Nunes, Joaquim; Sousa, Sandra; Graça Pinto, Maria; Correia, Sónia; Pacheco, Alberto; González, Cristina; Gómez, Susana; Amorós, David; Aguilar, Jesús; Quintana, FernandoObjective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic association study. Setting: Not applicable. Patient(s): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls from Spain and Portugal. Intervention(s): None. Main outcome measure(s): Genomic DNA extraction from peripheral blood mononuclear cells, genotyping of the SOHLH2 polymorphisms rs1328626 and rs6563386 using the TaqMan allelic discrimination technology, case-control association analyses using logistic regression models, and exploration of functional annotations in publicly available databases. Result(s): Evidence of association was observed for both rs6563386 with SO and rs1328626 with unsuccessful sperm retrieval after testicular sperm extraction (TESE-) in the context of NOA. A dominant effect of the minor alleles was suggested in both associations, either when the subset of patients with the manifestation were compared against the control group (rs6563386/SO: P=.021, odds ratio [OR] = 0.51; rs1328626/TESE-: P=.066, OR = 1.46) or against the group of patients without the manifestation (rs6563386/SO: P=.014, OR = 0.46; rs1328626/TESE-: P=.012, OR = 2.43). The haplotype tests suggested a combined effect of both polymorphisms. In silico analyses evidenced that this effect could be due to alteration of the isoform population. Conclusion(s): Our data suggest that intronic variation of SOHLH2 is associated with spermatogenic failure. The genetic effect is likely caused by different haplotypes of rs6563386 and rs1328626, which may predispose to SO or TESE- depending on the specific allelic combination.
- Monitoring pesticide residues in greenhouse tomato by combining acetonitrile-based extraction with dispersive liquid–liquid microextraction followed by gas-chromatography–mass spectrometryPublication . Melo, Armindo; C. Cunha, Sara; Mansilha, Catarina; Aguiar, Ana; Pinho, Olívia; Ferreira, Isabel M.P.L.V.O.A multiclass and multiresidue method for pesticide analysis in tomato was validated. Extraction and preconcentration of the pesticide residues from acetonitrile extracts was performed by using dispersive liquid–liquid microextraction (DLLME) technique, followed by gas chromatography–mass detection. DLLME was performed using carbon tetrachloride as extractive solvent and acetonitrile extract as dispersive solvent, in order to increase enrichment factor of the extraction procedure. Validation parameters indicated the suitability of the method for routine analyses of thirty pesticides in a large number of samples. In general, pesticide recoveries ranged between 70% and 110% and repeatability ranged between 1% and 20%. The proposed method was applied to the monitoring of pesticides in tomatoes grown during winter in greenhouses. Among the compounds considered in this work, cyprodinil was found in tomato at concentrations of 0.33 mg/kg, other pesticides like azoxystrobin, fenhexanid, tolyfluanid, k-cyhalothrin and trifloxystrobin were also detected, but, not quantified.
- Pesquisa de microdeleções AZF em homens inférteis na população portuguesaPublication . Pereira-Caetano, Iris; Silva, Júlia; Correia, Sónia; Pinto, Maria Graça; Rangel, Ricardo; Aguiar, Ana; Nunes, Joaquim; Calhaz, Carlos; Gonçalves, JoãoA infertilidade conjugal, definida como a incapacidade de conceção de um casal ao fim de um ano de relações sexuais desprotegidas, afeta 10 a 15% dos casais em idade reprodutiva, sendo que as causas masculinas constituem 30 a 40% das causas de infertilidade dos casais. Etiologicamente, a infertilidade masculina pode ter origem genética e não genética. De entre as causas genéticas mais frequentes destacam-se as alterações numéricas ou estruturais dos cromossomas, as mutações no gene CFTR e as microdeleções do cromossoma Y. No braço longo do cromossoma Y, em Yq11.2, localizam-se três regiões AZF (Azoospermia factor), AZFa, AZFb e AZFc, fundamentais para a fertilidade masculina uma vez que possuem múltiplos genes com expressão testicular implicados nas diferentes etapas da espermatogénese (1,2). As microdeleções do Y podem abranger uma ou mais destas regiões, e dependendo da região AZF delecionada ou ausente, a fertilidade pode ser mais ou menos afetada, observando-se diferentes padrões histológicos testiculares, que vão desde o síndrome de só-células-de-sertoli (deleção de AZFa), a paragem de maturação dos gâmetas durante a meiose (deleção AZFb) e a hipoespermatogénese (deleção de AZFc). Estas microdeleções representam a segunda causa genética mais frequente de falha espermatogénica em homens inférteis a seguir ao síndrome de klinefelter (cariotipo 47,XXY). O diagnóstico molecular das microdeleções AZF no cromossoma Y é um teste genético recomendado por rotina em homens inférteis que apresentem oligozoospermia grave (<5x106 espermatozoides/ml de sémen ejaculado) ou azoospermia secretora de causa desconhecida.
- Vegetables production in NW Portugal, agriculture practices and groundwater qualityPublication . Aguiar, Ana; Melo, Armindo; Mansilha, Catarina; Ferreira, IsabelIn NW of Portugal, the region between Esposende and Vila do Conde was established into a unique system called masseiras; masseiras are small fields that were created at the beginning of XX century by removing sand from dunes. Since the 80’s sand between closed masseiras has been removed giving way for larger fields, the “enlarged masseira with greenhouses”. This region is part of vulnerable zone nº1 (VZ1). Nowadays, the masseiras have almost disappeared; they had been replaced by “enlarged masseiras with plastic greenhouses” exploited by a new generation of growers. As water quality is an indicator of agriculture practices, 8 wells were selected and water samples were collected on four dates from September 2009 to May 2010. Laboratorial analysis was performed on nitrates and 28 pesticides. The results confirm that water in VZ1 is contaminated with nitrates (as it was expected) and also with pesticides. The water was contaminated in both dug wells and drilled wells all year round. Masseiras’ wells have more nitrates than greenhouses’ wells, probably due to poor agricultural practices used by growers who still employ high quantities of fertilizers and water. Pesticides detected in water samples include some that have been sprayed in the field and others that have not. Some forbidden substances were found. Our results confirm that, in VZ1, there is a diffusion contamination, which origin is unknown. In this communication, we put in picture the history of masseiras fields: how masseiras fields have been created and how they have disappeared; what trends exist in pest management strategies and the use of fertilizers, pesticides and water resources. These results reinforce the need to change the agricultural system in this region of traditional vegetable production.