Browsing by Author "Tavares, P"
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- Experimental Protocols to Test Aortic Soft Tissues: a Systematic ReviewPublication . Valente, R; Mourato, A; Xavier, J; Sousa, P; Domingues, T; Tavares, P; Avril, S; Tomás, A; Fragata, JExperimental protocols are fundamental for quantifying the mechanical behaviour of soft tissue. These data are crucial for advancing the understanding of soft tissue mechanics, developing and calibrating constitutive models, and informing the development of more accurate and predictive computational simulations and artificial intelligence tools. This paper offers a comprehensive review of experimental tests conducted on soft aortic tissues, employing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology, based on the Scopus, Web of Science, IEEE, Google Scholar and PubMed databases. This study includes a detailed overview of the test method protocols, providing insights into practical methodologies, specimen preparation and full-field measurements. The review also briefly discusses the post-processing methods applied to extract material parameters from experimental data. In particular, the results are analysed and discussed providing representative domains of stress-strain curves for both uniaxial and biaxial tests on human aortic tissue.
- Pancreatite Hereditária na CriançaPublication . Freira, S; Lourenço, T; Cerqueira, R; Tavares, P; Pereira, G; Barata, D; Cabral, JA pancreatite hereditária define-se pela presença de alterações clínicas, bioquímicas ou radiológicas de inflamação pancreática em dois ou mais familiares com pancreatite documentada. Esta é a quarta família descrita na literatura mundial de pancreatite hereditária com mutação c.364C>T (p.R122C) do gene PRSS1. A criança que constitui o caso index teve o primeiro episódio de dor abdominal aos três anos com internamento de dois dias, tendo melhorado com terapêutica analgésica. Um ano mais tarde teve novo episódio de características semelhantes tendo-lhe sido diagnosticada pancreatite. O pai foi sujeito a pancreato-duodenectomia (procedimento de Whipple) aos 27 anos por pancreatite recorrente desde os 19. O avô paterno e os pais deste avô tiveram antecedentes de diabetes mellitus. Foi detectada a mutação em heterozigotia, no exão 3 do gene PRSS1, no caso índex e no pai. É realçada a importância da vigilância a longo prazo nestes doentes, dado o risco de adenocarcinoma pancreático ductal.
- Preoperative Location of Parathyroid Adenomas in Primary Hyperparathyroidism: the Role of Cervical Doppler UltrasoundPublication . Amaral, S; Rego, T; Palha, A; Carrilho, N; Coutinho, JM; Tavares, P; Silva-Nunes, JIntroduction: Parathyroid adenoma is the most frequent cause of primary hyperparathyroidism. In recent years, the preoperative location of parathyroid adenomas allowed minimally invasive surgical techniques that have become preferred over the traditional bilateral neck exploration. The more recent guidelines on this subject highlight the role of nuclear medicine imaging tests. The aim of this study was to review the current role of Doppler ultrasound (US) in assessing the preoperative location of parathyroid adenomas in patients with primary hyperparathyroidism. Material and methods: Retrospective study based on data from patients with primary hyperparathyroidism that underwent parathyroidectomy between January 2013 and January 2022 at the Centro Hospitalar Universitário Lisboa Central. Statistical analysis was performed with IBM SPSS Statistics, version 26.0.0.0®. Results: Parathyroidectomy was performed in 171 patients (77.8% females) with primary hyperparathyroidism. Cervical Doppler ultrasound was the most performed test (64.3%, n = 110) for preoperative location and detected a suspicious lesion in 98 patients (89.1%). The preoperative location of the parathyroid adenomas was assessed through the Doppler ultrasound and was compared with the surgical reports and histological findings; a correct identification was made in 76 patients (77.6%). Doppler ultrasound slightly underestimated the mean adenoma size (18.1 ± 7.7 mm preoperative versus 22 ± 8.4 mm postoperative). Calcium, parathyroid hormone levels, adenoma size and concomitant presence of thyroid nodules did not affect the accuracy of Doppler ultrasound. Conclusion: Doppler ultrasound showed high diagnostic accuracy even in patients with nodular thyroid disease regardless of calcium and parathyroid hormone levels and adenoma size. Furthermore, its safety, affordability and availability should favor its use as first line test in primary hyperparathyroidism to assess the preoperative location of parathyroid adenomas.
- The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature ReviewPublication . Lopes, F; Torres, F; Soares, G; van Karnebeek, CD; Martins, C; Antunes, D; Silva, J; Muttucomaroe, L; Botelho, LF; Sousa, S; Rendeiro, P; Tavares, P; Van Esch, H; Rajcan-Separovic, E; Maciel, PMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.