Percorrer por autor "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.
- European guidelines for the management of tuberculosis screening procedures in migrants: A systematic reviewPublication . Pinheiro, Marina; Valente, Carolina; Cruz, Margarida; Nascimento Moreira, David; Aguiar, Ana; Duarte, RaquelBackground: This systematic review assesses the current available evidence across the WHO European region on the effectiveness and cost-effectiveness of the different approaches used for TB screening and also explores the facilitators and barriers that migrants face during screening programmes. Methods: We conducted an extensive, comprehensive, and systematic literature search across multiple databases, including MEDLINE, Cochrane, Scopus, and ISI Web of Knowledge, without any restrictions on publication date or language. In addition, we reviewed grey literature and reports. The data were meticulously analysed with a focus on screening of TB active disease and infection effectiveness indicators, and cost-effectiveness economic analyses as a primary objective and the comprehension of barriers and facilitators of screening as a secondary objective. Findings: Our review included 43 studies covering over 8 million migrants from 11 countries. The findings demonstrate that while screening uptake was high, coverage varied, and completion rates for preventive treatments were low. Economic analyses supported the high cost-effectiveness of the screening programmes, particularly when integrating both active TB and TBI screening strategies. Interpretation: This review underscores the cost-effectiveness and public health importance of TB screening in migrant populations within Europe. However, the disparities in screening practices highlight the urgent need for standardisation at the European level.
- Expert perspectives on tuberculosis screening procedures for migrantsPublication . Pinheiro, Marina; Moreira, David N.; Aguiar, Ana; Duarte, RaquelObjective: To evaluate the perspectives of tuberculosis experts from different countries regarding national screening procedures. Methods: This was a qualitative descriptive study. Data were collected by using electronic, anonymized surveys with experts in tuberculosis in seven different countries within two World Health Organization regions (Europe and Africa). Thematic analysis was employed. Results: The survey results indicate that there are varied perceptions of and experiences with national guidelines on screening for and treatment of tuberculosis (especially in the population tested), the appropriate timing of screening, types of tests, best practices, barriers, and limitations of the screening. The participants highlighted the importance of integrating health care services into the community to achieve people-centered health care. The study also sheds light on the importance of involving trained nurses and social workers in the screening process and of networks to ensure continuity of care. Conclusions: The overall perceptions of the respondents underscore the importance of standardized screening guidelines. The ongoing collaboration between public health services, the private sector, and the community is essential to reduce tuberculosis transmission, as well as to provide substantial public health and economic benefits.
- A genetic variant in the 3′-UTR of PIWIL4 confers risk for extreme phenotypes of male infertility by altering miR-215 and miR-136 binding affinityPublication . González-Muñoz, Sara; Cerván-Martín, Miriam; Guzmán-Jiménez, Andrea; Rodríguez-Martín, Ana Isabel; Garrido, Nicolás; Castilla, José A.; Gonzalvo, M. Carmen; Clavero, Ana; Molina, Marta; Vilches, Miguel Ángel; Espuch-Oliver, Andrea; Maldonado, Vicente; García-Peña, María Luisa; Galiano-Gutiérrez, Noelia; Santamaría, Esther; González, Cristina; Quintana-Ferraz, Fernando; Gómez, Susana; Amorós, David; Martínez-Granados, Luis; Ortega-González, Yanira; Burgos, Miguel; Pereira-Caetano, Iris; Pinto, Graça S.; Aguiar, Ana; Pereira, Isabel S.; López-Rodrigo, Olga; Bassas, Lluís; Seixas, Susana; Gonçalves, João; Lopes, Alexandra M.; Larriba, Sara; Bossini-Castillo, Lara; Carmona, F. David; Palomino-Morales, Rogelio J.Study question: What is the functional impact of the rs508485 genetic polymorphism, located in the 3'-untranslated region (UTR) region of the PIWIL4 gene, on non-obstructive azoospermia (NOA)? Summary answer: The rs508485 genetic variant contributes to the pathogenesis of extreme patterns of NOA by modulating PIWIL4 expression through microRNA (miRNA) interactions. What is known already: Male infertility represents a significant global health challenge with profound societal and economic consequences. One of the most severe forms of male infertility is NOA, which is characterized by severe spermatogenic failure (SPGF) of idiopathic origin in most cases. Cumulating knowledge increasingly suggests that this idiopathic form of NOA may represent a multifactorial condition involving complex interactions between genetic and environmental factors. The PIWI protein subfamily, particularly PIWIL4, plays a pivotal role in spermatogenesis by processing PIWI-interacting RNAs, which silence retrotransposons to protect genomic integrity. Genetic variations in this gene have been found to be associated with susceptibility to NOA. Study design, size, duration: A case-control study was conducted in a European cohort including 1516 infertile men with SPGF and 2451 fertile controls. Logistic regression and functional assays were employed to investigate the functional role of the rs508485 polymorphism in PIWIL4. Participants/materials, setting, methods: Participants were genotyped for the rs508485 polymorphism. Associations between the polymorphism and NOA phenotypes, including Sertoli cell-only (SCO) syndrome and testicular sperm extraction (TESE) outcomes, were assessed. In silico tools predicted miRNA binding effects, which were subsequently validated using luciferase reporter assays. Main results and the role of chance: The T allele of rs508485 was significantly associated with the SCO phenotype (P = 2.69E-03, OR = 1.34) and unfavourable TESE outcomes (P = 1.09E-03, OR = 1.54). In silico analyses predicted that the rs508485 variant might alter binding sites in the 3'-UTR region of PIWIL4 for different miRNAs, such as hsa-miR-215-3p and hsa-miR-136-3p. Functional validation using luciferase assays confirmed that these miRNAs differentially bind to the T and C alleles of this polymorphism, influencing PIWIL4 regulation. Large scale data: N/A. Limitations, reasons for caution: The study is limited to a single genetic polymorphism and functional assays were performed in vitro. Additional studies are required to validate these findings across diverse populations and explore additional genetic interactions. Wider implications of the findings: These findings highlight the critical role of miRNA regulation in extreme forms of male infertility by influencing the expression of essential spermatogenesis genes, such as PIWIL4. Our study sheds light on the genetic mechanisms underlying spermatogenesis and suggests potential therapeutic targets for NOA.
- 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.
- The Invisible Face of COVID-19Publication . Duarte, Raquel; Aguiar, AnaExtract: The COVID-19 pandemic has left indelible marks on the global landscape, disrupting lives, economies, and health systems. The immediate, visible consequences of the pandemic include overwhelmed healthcare systems, with hospitals stretched beyond capacity, leading to delayed care and strained resources¹,². Staggering mortality rates became a grim hallmark as COVID-19 claimed millions of lives worldwide. Economically, global lockdowns disrupted supply chains, shuttered businesses, and caused massive job losses, plunging countless families into financial insecurity³. The urgency of vaccine development and distribution brought hope and highlighted disparities in access, underscoring systemic inequities between high- and low-income countries. While these visible effects dominated public discourse, they represent only part of the pandemic’s multifaceted impact. A significant portion of its impact remains hidden beneath the surface. These invisible damages, often overshadowed by immediate crises, have profound implications for public health and societal resilience. Understanding these hidden consequences is essential to formulating effective recovery strategies and building resilience against future crises. Addressing both visible and invisible impacts is crucial for constructing a comprehensive narrative of the pandemic’s effects and implementing holistic solutions.
- 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.