Browsing by Issue Date, starting with "2024-03"
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- Cyto-Histological Profile of MicroRNAs as Diagnostic Biomarkers in Differentiated Thyroid CarcinomasPublication . Matos, ML; Pinto, M; Alves, M; Canberk, S; Gonçalves, A; Bugalho, MJ; Papoila, AL; Soares, PIntroduction: The repertoire of microRNAs (miRNAs) in thyroid carcinomas starts to be elucidated. Among differentiated thyroid carcinomas (DTCs), papillary thyroid carcinoma (PTC) is the most frequent. The assessment of miRNAs expression may contribute to refine the pre-surgical diagnosis in order to obtain a personalized and more effective treatment for patients. Aims: This study aims to evaluate (1) the miRNAs in a series of DTCs, and their association with the presence of selected genetic mutations in order to improve diagnosis and predict the biologic behavior of DTC/PTC. (2) The reliability of molecular tests in Ultrasound-guided Fine Needle Aspiration Cytology (US-FNAC) for a more precise preoperative diagnosis. Material and methods: This series includes 176 samples (98 cytology and 78 histology samples) obtained from 106 patients submitted to surgery, including 13 benign lesions (controls) and 93 DTCs (cases). The microRNA expression was assessed for miR-146b, miR-221, miR-222, and miR-15a through quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR). The results were analyzed by the 2-ΔΔCT method, using miR16 as an endogenous control. Regarding PTC diagnosis, the discriminative ability of miRNAs expression was assessed by the area under the Receiver Operating Characteristic Curve (AUC). In PTCs, the association of miRNAs expression, clinicopathological features, and genetic mutations (BRAF, RAS, and TERTp) was evaluated. Results/discussion: All the analyzed miRNAs presented a tendency to be overexpressed in DTCs/PTCs when compared with benign lesions, both in cytology and histology samples. In cytology, miRNAs expression levels were higher in malignant tumors than in benign tumors. In histology, the discriminative abilities regarding PTC diagnosis were as follows: miR-146b (AUC 0.94, 95% CI 0.87-1), miR-221 (AUC 0.79, 95% CI 0.68-0.9), miR-222 (AUC 0.76, 95% CI 0.63-0.89), and miR-15a (AUC 0.85, 95% CI 0.74-0.97). miR-146b showed 89% sensitivity (se) and 87% specificity (sp); miR-221 se = 68.4, sp = 90; miR-222 se = 73, sp = 70; and mi-R15a se = 72, sp = 80. MicroRNAs were associated with worst-prognosis clinicopathological characteristics in PTCs (p < 0.05), particularly for miR-222. Our data reveal a significant association between higher expression levels of miR-146b, miR-221, and miR-222 in the presence of the BRAF mutation (p < 0.001) and miR-146b (p = 0.016) and miR-221 (p = 0.010) with the RAS mutation, suggesting an interplay of these mutations with miRNAs expression. Despite this study having a relatively small sample size, overexpression of miRNAs in cytology may contribute to a more precise preoperative diagnosis. The miRNAs presented a good discriminative ability in PTC diagnosis. The association between the miRNAs expression profile and genetic alterations can be advantageous for an accurate diagnosis of DTCs/PTCs in FNAC.
- When the Stomach Takes a Vacation: The Unseen Battles of GastroparesisPublication . Sousa, B; Rodrigues, T; Ribeiro, JGastroparesis is a syndrome characterised by delayed gastric emptying that is usually idiopathic, diabetic, or iatrogenic. This underdiagnosed disease has a substantial influence on the quality of life of its patients. We present the case of an 86-year-old man with dementia, benign prostatic hyperplasia, and gastroesophageal reflux disease who developed symptoms of gastroparesis during a lengthy hospital stay. Computed tomography (CT) and upper digestive endoscopy demonstrated gastric distention and pyloric stenosis. Despite cautious treatment and eventual pyloric dilation, the patient died from aspiration due to refractory respiratory failure. This example emphasises the need for early detection and thorough examination of gastroparesis to optimise patient outcomes and reduce morbidity and mortality.
- Gorham-Stout Syndrome: a Rare Cause of Osteolytic Lesions.Publication . Santos, Mariana; Conceição, Carla
- Mapping the Landscape: Simulation Centers in Portugal.Publication . Silva, Bruno Miguel; Norte, Gustavo; Lito, Pedro; Garcia, PedroIntroduction: Simulation-based training has emerged as a vital component of healthcare education. This study aims to characterize Portuguese simulation centers concerning their geographic distribution and key features, providing stakeholders with valuable insights to inform strategic decisions. Methods: A cross-sectional survey-based study was conducted over two years (2021-2023) to investigate the geographical dispersion and characteristics of simulation centers in Portugal. Descriptive statistics and thematic analysis were used to analyze data. Results: Twenty-three Portuguese simulation centers were included. Major urban areas and coastal regions bring together 20 simulation centers (86.96%). A large percentage (71.93%) of centers were affiliated with academic institutions, while five centers (21.74%) were clinically affiliated. Emergency care, Anesthesiology and Intensive Medicine, Pediatrics, and Gynecology and Obstetrics were identified as the national key areas of intervention. Discussion: Significant geographical disparity raises concerns about unequal access to professional training opportunities using simulation. Centers should be encouraged to incorporate developing technologies and innovative pedagogical methodologies and to expand their training repertoire into relatively uncharted territories. Conclusion: Several issues have been identified within the national simulation network. Stakeholders and policymakers should prioritize equitable access, bolster the prevalence of clinical affiliated centers, foster innovation, and facilitate strategic coordination.
- Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.Publication . Rebelo, Mafalda; Francisco, Telma; Perry da Câmara, Rosário; Pereira, Andreia; Iraneta, Amets; Amorim, Marta; Paiva Lopes, Maria João; Lopes da Silva, Rita; Cordeiro, Ana IsabelIntroduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.