60 documents found, page 1 of 6
A novel deleterious variant and a founder effect in four new families of MBD4-A...
Querido, Inês; Pinto, Carla; Arinto, Patrícia; Brandão, Andreia; Santos, Catarina; Pinheiro, Manuela; Guerra, Joana; Silva, João; Peixoto, AnaDNA glycosylases play a crucial role in DNA repair mediated by the base excision repair (BER) pathway, and alterations in these enzymes have been associated with hereditary cancer predisposition. Recently, germline biallelic loss-of-function variants in MBD4 were shown to be responsible for a novel autosomal recessive multi-tumor predisposition syndrome, provisionally denominated as MBD4-associated neoplasia sy...
Thoracic Ultrasound in Pediatric Intensive Care: A Valuable Tool for Children w...
Curinha, Filipa; Fernandes, Adriana; Pinto, Carla; Dionísio, Maria TeresaIntroduction: Available scoring systems for managing acute bronchiolitis lack accuracy in predicting severity and prognosis. Thoracic ultrasound may help fill this gap. This study evaluated changes in thoracic ultrasound parameters in children with acute bronchiolitis and their association with disease severity. Diaphragmatic ultrasound parameters were also compared between patients with and without invasive me...
Association between maternal cardiometabolic risk factors and oral health of in...
Pestana, Rebeca Saad; Baptista, Manuel; Magalhães, Inês; Morais, Juliana; Ferreira, Ana Filipa; Marques, Sofia Cameron; Jerónimo, Maria LuísMaternal health conditions during pregnancy influence infant health1-3. Cardiometabolic risk factors (CRFs), such as obesity, hypertension, and gestational diabetes, increase maternal and neonatal complications due to chronic inflammation, which disrupts immune and endocrine adaptation4,5. While the effects of CRFs on infant development are well studied, their impact on oral health remains unclear. Therefore, t...
Breastfeeding and malocclusions: Characterization of a pediatric dentistry popu...
Marques, Sofia Cameron; Baptista, Manuel; Magalhães, Inês; Morais, Juliana; Ferreira, Ana Filipa; Pestana, Rebeca; Jerónimo, Maria Luís; Pinto, CarlaBreastfeeding plays an important role in the development of the craniofacial complex (1,2). However, the role of breastfeeding duration, non-nutritive sucking habits, and the timing of solid food introduction on the development of malocclusions is still in debate (25). Therefore, this study aimed to investigate these associations in a birth cohort. In the ongoing OralBioBorn birth cohort, occlusion of three-yea...
Formação de Equipas enquanto Estratégia de Retenção para Profissionais de Saúde...
Galamba, Sandra; Cerdeira, Raquel Mendes; Vicente, Cátia; Pinto, Carla; Poeira, Ana FilipaEnquadramento: A escassez global de profissionais de saúde torna emergente a sua retenção para garantir uma cobertura de saúde eficaz. A rotatividade externa dos profissionais de saúde constitui um desafio, com potenciais consequências para as organizações, os utentes e os próprios profissionais Objetivo: Verificar se a participação num programa de formação de equipas está associada com a intenção de rotativida...
The role of multi-organ cancer predisposition genes in the risk of inherited an...
Carvajal-Carmona, Luis G.; Pinto, Carla; Pinto, CarlaApproximately 10% of cases with gastric cancer (GC) exhibit familial clustering, however, only 1–3% of cases can be explained by two known hereditary syndromes: Hereditary Diffuse Gastric Cancer (HDGC) caused by CDH1 and CTNNA1 pathogenic germline variants; and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), caused by germline variants in APC 1B promoter. Familial intestinal gastric cancer...
Validação do método para determinação do teor de amónia em águas minerais naturais
Lopes, Ariana; Terroso, Diogo; Carneiro, Inês; Macedo, Inês; Lima, Vítor; Pinto, Carla; Pires, Bruno; Afonso, Andrea Luísa FernandesA validação de métodos laboratoriais é fundamental para assegurar a qualidade dos resultados analíticos antes da sua aplicação na rotina laboratorial. Objetivo: Este estudo centrou-se na validação do método de determinação do ião amónio (NH4⁺) em águas minerais naturais, essencial para garantir a segurança deste tipo de água, dado que a presença deste ião pode indicar contaminação ou decomposição orgânica. Meto...
TGFβ in malignant canine mammary tumors: relation with angiogenesis, immunologi...
Carvalho, Maria Isabel; Carvalho, Ricardo Emanuel Silva; Prada, Justina; Pinto, Carla; Gregório, Hugo; Lobo, Luis; Pires, Isabel; Queiroga, Felisbina L.Transforming growth factor- (TGF) and FoxP3 regulatory T cells (Treg) are involved in human breast carcinogenesis. This topic is not well documented in canine mammary tumors (CMT). In this work, the tumoral TGF expression was assessed by immunohistochemistry in 67 malignant CMT and its correlation to previously determined FoxP3, VEGF, and CD31 markers and other clinicopathologic parameters was evaluated. The hi...
Análise de variantes no gene STK11 e sua influência na resposta à imunoterapia
Bessa, Ana; Pina, Maria; Domigues, Patrícia; Dias, Margarida; Pinto, Carla; Cirnes, Luís; Silva, ReginaIntrodução: A imunoterapia é uma das ferramentas terapêuticas de sucesso usadas no tratamento do cancro de pulmão, contudo alguns doentes apresentam progressão da doença ou morte. O gene Serine/ threonine Kinase 11 (STK11) está descrito como tendo um papel na fisiologia do sistema imune (SI) e que alterações genéticas no mesmo podem influenciar negativamente a resposta dos pacientes à imunoterapia [1]. Objetivo...
Genotype-first approach to identify associations between CDH1 germline variants...
Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre dos Santos; Garrido, Luzia; Castedo, Sérgio; Sousa, SóniaBackground Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier individuals to diffuse gastric and lobular breast cancer. Rare CDH1 missense variants are often classified as variants of unknown significance. We conducted a genotype– phenotype analysis in families carrying rare CDH1 variants, comparing cancer s...