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- Neoplasia maligna com características de adenocarcinoma extrauterino: estudo de caso clínicoPublication . Babo, A.; Silva, J.; Roque, RubenAs neoplasias malignas identificadas em citologia cervicovaginal com características de adenocarcinomas extrauterinos são neoplasias raras e agressivas, frequentemente diagnosticadas em estadios avançados, devido à sua apresentação clínica pouco específica. Este tipo de carcinoma representa um desafio significativo para o diagnóstico, exigindo uma abordagem interdisciplinar. Neste estudo, apresentamos um caso clínico de uma mulher de 75 anos com extensa carcinomatose peritoneal de predomínio infraumbilical. A citologia cervicovaginal em meio líquido revelou uma neoplasia maligna compatível com adenocarcinoma extrauterino, mas a origem exata não pode ser determinada com certeza. O exame histológico do tumor revelou tratar-se de um carcinoma misto com componente de carcinoma seroso de alto grau e um componente de carcinoma de células claras, não fazendo distinção entre ovário/trompa de Falópio/peritoneu ou origem endometrial. Este caso salienta a capacidade de deteção da citologia em neoplasias extrauterinas, enfatizando a importância crítica da integração de técnicas complementares para a caracterização e diagnóstico definitivo destes carcinomas.
- Metastização leptomeníngea de origem ginecológica: o papel decisivo da citologiaPublication . Dias, C.; Lino, I.; Babo, M.; Roque, RubenO exame citopatológico do líquido cefalorraquidiano é um método diagnóstico essencial na avaliação de patologias do sistema nervoso central, sendo fundamental na deteção de disseminação meníngea por neoplasias. O presente caso de estudo refere-se a uma mulher de 34 anos previamente diagnosticada com carcinoma adenoescamoso do colo do útero associado ao vírus do papiloma humano de alto risco, com metastização ganglionar confirmada. Cerca de um ano após histerectomia radical, perante sintomatologia neurológica, foi equacionada a hipótese de leptomeningite carcinomatosa. A análise citológica do líquido cefalorraquidiano revelou a existência de células malignas de morfologia epitelial, confirmada por imunocitoquímica, com imunomarcação positiva para a pancitoqueratina MNF116, a proteína p16 e negativa para CD20. A história oncológica prévia e a morfologia celular, complementada pela avaliação de biomarcadores por testes de imunocitoquímica, permitiram o diagnóstico de metastização leptomeníngea de carcinoma do colo do útero. Este caso evidencia a relevância do exame citológico do líquido cefalorraquidiano que, associado a técnicas complementares, permitiu o diagnóstico de metástases meníngeas de neoplasia de origem ginecológica, entidade rara, mas clinicamente relevante.
- Carcinoma medular da tiroide com neoplasia papilar síncrona: metástase ganglionar inaugural diagnosticada por citologia aspirativaPublication . Araújo, A.; Pires, Carolina; Oliveira, M.; Roque, RubenA citologia aspirativa por agulha fina (CAAF) é um método essencial na caracterização das adenopatias cervicais, permitindo a distinção entre lesões benignas e malignas. O carcinoma medular da tiroide, uma neoplasia neuroendócrina rara, derivada das células C da tiroide, pode apresentar-se inicialmente como metástase ganglionar. Este artigo descreve o caso clínico de uma mulher de 62 anos com adenomegalia supraclavicular, cuja primeira CAAF foi sugestiva de neoplasia epitelial sem origem definida. Posteriormente, realizou nova CAAF, o que suscitou a hipótese de metástase de carcinoma medular da tiroide. A confirmação diagnóstica foi obtida por técnicas de imunocitoquímica (avaliação dos biomarcadores TTF1 e calcitonina). A tiroidectomia total com esvaziamento cervical revelou um carcinoma medular no lobo direito, com invasão vascular, e um microcarcinoma papilar folicular no lobo esquerdo. Este caso consubstancia o papel da citologia na abordagem inicial das adenopatias, evidenciando a importância da CAAF na obtenção de amostras representativas e com preservação morfológica adequada, mesmo sendo um método minimamente invasivo. Aliada a um processamento eficaz e acompanhada por técnicas complementares, revela-se fundamental para um diagnóstico citopatológico exato e para a correta orientação clínica.
- The potential of DNA methylation as a biomarker for age-related macular degeneration: a systematic reviewPublication . Ghannai, Salema; Ribeiro, Edna; Pereira, Bruno; Brito, Miguel; Camacho, PedroAge-related macular degeneration (AMD) is a multifactorial disease influenced by genetic and environmental factors, yet its pathogenesis remains incompletely understood. DNA methylation, increasingly recognized as a disease indicator, has been linked to AMD and may represent a promising biomarker or therapeutic target. This systematic review, conducted according to PRISMA 2020 guidelines, analyzed 13 studies addressing DNA methylation in AMD populations (2012-2025). Results revealed that 25% reported hypermethylation, 8% hypomethylation, and 41% both patterns, while 15% found no significant differences. Notably, one study described downregulation of DNA methyltransferases in advanced stages compared with early or intermediate AMD. Despite the limited evidence, findings support the relevance of methylation in AMD prognosis and therapy. Further research with robust methodologies is essential to clarify the role of epigenetic mechanisms in disease progression and to explore their potential for guiding targeted therapeutic strategies
- The comet assay as a tool in human biomonitoring exposure to anaesthetic gases: a systematic review and meta-analysisPublication . Gajski, Goran; Haveric, Anja; Møller, Peter; Azqueta, Amaya; Giovannelli, Lisa; Gerić, Marko; Stopper, Helga; Bankoglu, Ezgi Eyluel; Collins, Andrew; Ladeira, CarinaAnaesthetic gases are agents used to induce and maintain general anaesthesia during surgical procedures. Common examples include sevoflurane, isoflurane, and desflurane, which act by depressing the central nervous system to produce unconsciousness and analgesia. These gases are administered through a vaporiser and inhaled via a mask or endotracheal tube. While effective, they can contribute to environmental pollution and increase the risk of occupational exposure. Medical personnel working in operating or post-operative facilities are unavoidably exposed to anaesthetic gases. Several adverse health effects have been associated with anaesthetic gas exposure; therefore, this review aims to summarise findings on DNA strand breaks, assessed by the comet assay in leucocytes of exposed medical workers. Standardised mean differences (SMDs) have been calculated by random effects models. The meta-analysis included 16 studies. Of these, 11 showed statistically significant increased levels of DNA strand breaks, whereas another five studies showed no significant effect. Overall, there is an increased level of DNA strand breaks in exposed subjects in unadjusted analysis (SMD = 1.17, 95 % confidence interval: 0.71, 1.62) as well as analysis adjusted for missing studies by the trim-and-fill method (SMD = 0.53, 95 % confidence interval: −0.14, 1.21). In conclusion, this systematic review and meta-analysis demonstrate that exposure to anaesthetic gases in an occupational setting induces primary DNA damage in human leucocytes, warranting further research to minimise any adverse effects on exposed medical personnel. Besides, the relevance of the use of the comet assay in assessing DNA damage in human biomonitoring studies is proven.
- Diaphragm ultrasonography during respiratory manoeuvresPublication . Leote, João; Costa, Carolina; Ferreira, Edgar; Parxotamo, André; Batista, Maria; Loução, Ricardo; Gonzalez, Filipe; Bacariza, Jacobo; Dias, Maria Hermínia Monteiro BritesThis study aimed to describe diaphragm ultrasonography (DU) during mouth occlusion pressure (P0.1) and maximal inspiratory pressure (MIP) in healthy participants. Four participants performed: (i) neurophysiological tests and then (ii) simultaneous DU with P0.1 and MIP. Diaphragm excursion was 2.37 cm (median) during tidal volume of 0.74 L. Additionally, a median diaphragm excursion of 1.25 cm was associated with a median P0.1 of 1.39 cm H2O, while a median diaphragm excursion of 3.10 cm was associated with a median MIP of 125.88 cm H2O. DU showed a hold-back movement during P0.1 and a plateau during MIP, providing novel insights into diaphragm movement with potential clinical practice implications.
- Impact of epigallocatechinn-3-gallate on Staphylococcus aureus molecular profilePublication . Inácio, Raquel; Ribeiro, Edna; Calado, Cecília R. C.The discovery of new antimicrobial compounds is critical for the control of severe nosocomial infections, as those associated with methicillin-sensitive (MSSA) and resistant (MRSA) Staphylococcus aureus strains. In order to enhance new therapeutic approaches, it is crucial to develop new platforms to screen innovative compounds. Here, we evaluated how Fourier Transform Infra-Red (FTIR)-spectroscopy enables the prediction of antibiotic resistance and monitors the impact of epigallocatechin-3-gallate (EGCG) on the metabolism of MRSA and MSSA strains. Data showed that EGCG impacts the bacteria's metabolism, and that MRSA strains are more sensitive to EGCG. The high sensitivity of the technique also enabled us to discriminate the impact of EGCG concentrations, i.e., between 25 and 50, and between 50 and 100μg/ml. On the other hand, EGCG's impact on cellular molecular composition was lower than the differences between MSSA and MRSA strains. Furthermore, it was possible to predict these strains' resistance towards the antibiotics methicillin, amoxicillin, imipenem, and gentamicin. Since the spectra were acquired in a rapid, simple, economic, and high-throughput mode, this methodology may strongly promote the surveillance of nosocomial infection caused by S. aureus, and to screen new antimicrobial compounds.
- From scans to steps: elevating stroke rehabilitation with 3D-printed ankle-foot orthosesPublication . Silva, Rui; Morouço, Pedro; Ricardo, Diogo; Campos, Inês; Alves, Nuno; Veloso, António P.Background: The integration of advanced 3D scanning and additive manufacturing technologies in stroke rehabilitation offers promising advancements in the design and production of ankle-foot orthoses. These technological innovations are progressively recognized for their potential to provide more precise and customized orthotic solutions for individuals with stroke-related impairments. Objectives: The primary aim of this study was to biomechanically test and validate the effectiveness of custom ankle-foot orthoses produced through additive manufacturing technology using data captured by a novel photogrammetric scanning system. The customized orthosis was compared with a standard prefabricated orthosis to assess their relative effectiveness in improving gait dynamics and patient satisfaction in stroke rehabilitation. Methods: Participants with equinovarus deformity, a common consequence of stroke, were fitted with custom ankle-foot orthoses, alongside conventional prefabricated orthoses. The study utilized the Qualisys® motion analysis system for comprehensive biomechanical gait analysis, and the QUEST questionnaire was employed to capture participant feedback on both types of orthoses. Detailed comparisons of gait dynamics were conducted using Statistical Parametric Mapping with each orthosis. Results: The study revealed notable kinematic and kinetic differences between the custom and prefabricated orthoses. The custom orthoses demonstrated superior performance in enhancing gait efficiency, symmetry, and safety. Patient feedback favored the customized orthoses over the prefabricated variants, with higher scores in comfort, fit, and overall effectiveness. Conclusions: This research underscores the effectiveness of custom orthoses produced through additive manufacturing technology for stroke rehabilitation. By offering a comprehensive evaluation of orthotic interventions and establishing a comparative framework, the study serves as a reference point for future research, advocating for a more personalized and evidence-based approach in orthotic design for improving the quality of life of stroke survivors.
- Towards a validation of the standard and enzyme-linked comet assay: a retrospective variability analysisPublication . Møller, Peter; Ladeira, Carina; Ziemann, Christina; Knasmueller, Siegfried; Mišík, Miroslav; Louro, Henriqueta; Silva, Maria João; Olsen, Ann Karin; Azqueta, Amaya; Langie, Sabine A.; Bonassi, Stefano; Dusinska, Maria; Gajski, Goran; Collins, AndrewThe comet assay is one of the most popular tests for genotoxicity in cell cultures, non-animal species, animals, and humans. It has high sensitivity to detect low levels of DNA damage, can be applied to non-proliferating cells, requires relatively few cells, is technically simple, and is low-cost. The Organisation for Economic Co-operation and Development (OECD) adopted in 2016 the in vivo comet assay for measurement of DNA strand breaks in animal tissues. There is a desire to expand the comet assay to genotoxicity testing in cell cultures, including the detection of oxidatively damaged DNA by incubation of gel-embedded nucleoids with DNA repair enzymes, especially formamidopyrimidine DNA glycosylase (Fpg), which converts oxidised purines to DNA breaks. Based on available information in the literature, this review provides a retrospective evaluation of the validation status of this assay, focusing on accuracy and reliability in genotoxicity testing in vitro. Information on accuracy is scarce, although limited evidence suggests levels of Fpg-sensitive sites are similar to those obtained by Fpg-linked alkaline unwinding and alkaline elution assays. Several ring studies have shown that estimated background levels of DNA breaks vary within and between laboratories. However, ring studies indicate good intra- and inter-laboratory reproducibility of the standard assay on ionizing radiation-exposed and the Fpg-linked assay on potassium bromate-exposed cells. Further studies are needed to assess the reproducibility in multiple laboratories using coded samples of non-genotoxins and genotoxins. Nevertheless, the available results indicate the comet assay is a reliable in vitro genotoxicity test.
- Variant calling in genomics: a comparative performance analysis and decision guidePublication . Pinto, Vera; Sousa, Lisete; Silva, Carina; Nejat MahdiehThe accurate detection of genetic variants is critical for advancing genomics research and precision medicine. However, this task remains challenging due to pervasive sequencing errors and complex genomic regions. The choice of variant calling software significantly influences results, creating a need for clear, evidence-based guidance. This study aims to provide a performance evaluation and a clear, evidence-based guide for selecting variant callers by benchmarking seven widely used tools, GATK, FreeBayes, DeepVariant, Samtools, Strelka2, Octopus, and Varscan2, highlighting their algorithmic trade-offs. The well-characterized NA12878 genome from the Genome in a Bottle consortium was analyzed. High-coverage whole-genome sequencing data were processed with each variant caller, and the resulting variant calling files were benchmarked against a gold-standard reference. Performance was assessed using precision, recall, and F1-score on a chromosome 20 subset and on full whole-genome data. The analysis revealed that DeepVariant's deep learning approach achieved the highest precision (0.7869) and F1-score (0.8754) on chromosome 20. For whole-genome analysis, Strelka2 excelled in precision (0.8326), while Octopus demonstrated superior recall (0.9838). FreeBayes exhibited high sensitivity but lower precision, underscoring a key trade-off. There is no universally superior variant caller; the optimal choice depends on the specific research objectives, whether prioritizing precision, recall, or computational efficiency. This study serves as a crucial evidence-based resource for researchers and clinicians, enabling informed tool selection.