Browsing by Author "Amaral, C"
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- A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: a Case-Control StudyPublication . Gaspar, L; Gonçalves, C; Fonseca, F; Carvalho, D; Cortez, L; Palha, A; Barros, I; Nobre, E; Duarte, J; Amaral, C; Bugalho, MJ; Marques, O; Pereira, B; Lemos, MThe majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population. Genotype and allele frequencies were determined in 570 cases and in 546 controls. The CDK8 rs17083838 minor allele (A allele) was significantly associated with sporadic pituitary adenomas, under an additive (odds ratio (OR) 1.73, 95% confidence interval (CI) 1.19-2.50, p = 0.004) and dominant (OR 1.82, 95% CI 1.24-2.68, p = 0.002) inheritance model. The NEBL rs2359536 and PCDH15 rs10763170 variants were not associated with the overall risk for the disease, although a borderline significant association was observed between the PCDH15 rs10763170 minor allele (T allele) and somatotrophinomas (dominant model, OR 1.55, 95% CI 1.02-2.35, p = 0.035). These findings suggest that the CDK8 rs17083838 variant, and possibly the PCDH15 rs10763170 variant, may increase susceptibility to sporadic pituitary adenomas in the Portuguese population.
- Estenose Intra-Stent na Artéria Femoral Superficial: Soluções Actuais Para um Problema CrescentePublication . Rodrigues, H; Bastos Gonçalves, F; Alves, G; Amaral, C; Rodrigues, G; Abreu, R; Quintas, A; Oliveira, N; Ferreira, E; Albuquerque e Castro, J; Mota Capitão, LOs últimos anos de tratamento da doença arterial obstrutiva periférica na artéria femoral superficial observaram uma mudança de paradigma, da cirurgia clássica para a endovascular, o que se traduziu na utilização progressiva de stents metálicos para a manutenção da permeabilidade a longo prazo. Apesar dos avanços tecnológicos, a restenose intra-stent é uma das principais limitações do tratamento endovascular, com um tratamento complexo e não consensual, traduzindo a escassez de resultados obtidos ou a sua manutenção no tempo. Os autores procuraram recolher os dados mais recentes sobre este tipo de patologia e as principais opções disponíveis para o seu tratamento.
- Inhibition of Fucosylation in Human Invasive Ductal Carcinoma Reduces E-Selectin Ligand Expression, Cell Proliferation, and ERK1/2 and p38 MAPK ActivationPublication . Carrascal, M; Silva, M; Ramalho, J; Pen, C; Martins, M; Pascoal, C; Amaral, C; Serrano, I; Oliveira, MJ; Sackstein, R; Videira, PBreast cancer tissue overexpresses fucosylated glycans, such as sialyl-Lewis X/A (sLeX/A ), and α-1,3/4-fucosyltransferases (FUTs) in relation to increased disease progression and metastasis. These glycans in tumor circulating cells mediate binding to vascular E-selectin, initiating tumor extravasation. However, their role in breast carcinogenesis is still unknown. Here, we aimed to define the contribution of the fucosylated structures, including sLeX/A , to cell adhesion, cell signaling, and cell proliferation in invasive ductal carcinomas (IDC), the most frequent type of breast cancer. We first analyzed expression of E-selectin ligands in IDC tissue and established primary cell cultures from the tissue. We observed strong reactivity with E-selectin and anti-sLeX/A antibodies in both IDC tissue and cell lines, and expression of α-1,3/4 FUTs FUT4, FUT5, FUT6, FUT10, and FUT11. To further assess the role of fucosylation in IDC biology, we immortalized a primary IDC cell line with human telomerase reverse transcriptase to create the 'CF1_T cell line'. Treatment with 2-fluorofucose (2-FF), a fucosylation inhibitor, completely abrogated its sLeX/A expression and dramatically reduced adherence of CF1_T cells to E-selectin under hemodynamic flow conditions. In addition, 2-FF-treated CF1_T cells showed a reduced migratory ability, as well as decreased cell proliferation rate. Notably, 2-FF treatment lowered the growth factor expression of CF1_T cells, prominently for FGF2, vascular endothelial growth factor, and transforming growth factor beta, and negatively affected activation of signal-regulating protein kinases 1 and 2 and p38 mitogen-activated protein kinase signaling pathways. These data indicate that fucosylation licenses several malignant features of IDC, such as cell adhesion, migration, proliferation, and growth factor expression, contributing to tumor progression.
- Lesões Traumáticas Iatrogénicas das Veias Femorais no Decurso da Cirurgia de VarizesPublication . Albino, JP; Meireles, N; Martins, J; Silva Castro, J; Duarte, J; Gonçalves, A; Amaral, C; Bettencourt, V; Gonçalves, D; Mota Capitão, L; Carvalho, STraumatic lesions of the femoral veins during varicose veins surgery are very uncommon and they raise several therapeutic difficulties. They occur in 1/1000 cases of varicose veins operated. The authors describe four cases of lesions of this type that were seen and treated for the last six years, probably because there was an increase in the number of varicose veins operated on in the Lisbon area. The authors discuss the surgical options and they concluded that these complications can be minimized with good anatomical and surgical skills, specially of the saphenous-femoral and saphenous-popliteal junctions.
- A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal DysplasiaPublication . Hu, Y; Chen, I; Almeida, S; Tiziani, V; Amaral, C; Gowrishankar, K; Passos-Bueno, MR; Reichenberger, ECraniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR)form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.
- O Papel do Enfermeiro no Contexto da DoaçãoPublication . Amaral, C
- Síndrome de Churg-Strauss, Aneurismas Femorais Venosos e Tromboembolismo PulmonarPublication . Meireles, N; Ferreira, E; Silva Castro, J; Amaral, C; Sobrinho, G; Franca, T; Albino, JP; Carvalho, CSOBJECTIVE: Venous aneurysms of the lower limbs are rare. When they involve the deep venous system, they can be associated with deep venous thrombosis and pulmonary embolism. The authors report the case of a 63-year-old women evaluated by duplex imaging and venography, in the context of a pulmonary embolism, and detected bilateral large aneurysms of the femoral veins (5 cm in the right femoral vein and 4 cm in the left femoral vein). The aneurysms were located at the bifurcation of the common femoral vein with the superficial and profound veins. METHOD: The right aneurysm was partially thrombosed. The patient was asymptomatic in the lower-limb extremities. After a period of anticoagulation, the authors proceeded to surgically excise the right aneurysm and replaced the venous system using a polytetrafluoroethylene (PTFE) graft with the construction of an a-v fistula. RESULT: The patient had no complications in the postoperative period and her 8-month follow-up examination revealed no symptoms, not even leg edema. The duplex scan showed patency of the graft. She continued with oral anticoagulation. The histologic examination revealed an eosinophilic inflammatory reaction of the vein wall, compatible with the diagnosis of Churg-Strauss syndrome. CONCLUSION: The authors conclude that they have probably described the first case in the international literature of a venous aneurysm with a Churg-Strauss syndrome and pulmonary embolism.