Browsing by Author "Oliveira, C"
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- Adult abdominal Burkitt lymphoma with isolated peritoneal involvementPublication . Oliveira, C; Matos, H; Serra, P; Catarino, R; Estevão, ABurkitt lymphoma is a fast-growing high grade B-cell neoplasm that rarely affects adults. Three clinical variants are described in the World Health Organization classification: endemic, sporadic, and immunodeficiency-associated. The non-endemic form typically presents as an abdominal mass in children. Symptoms usually occur due to mass effect or direct intestinal involvement. We describe a very unusual presentation of a sporadic Burkitt lymphoma case in a 61-year-old male with diffuse peritoneal and omental involvement, without lymphadenopathies, mimicking peritoneal carcinomatosis.
- Alterações de redes cerebrais funcionais em pacientes com disfunção eréctil psicogénica: um estudo de ressonância magnética funcionalPublication . Antunes, H; Rolo, F; Sousa, L; Tavares da Silva, E; Cera, N; Carvalho, J; Quinta-Gomes, A; Pereira, R; Oliveira, C; Castelhano, J; Janssen, E; Figueiredo, A; Castelo-Branco, N; Nobre, P
- Endometrial Cancer Spheres Show Cancer Stem Cells Phenotype and Preference for Oxidative MetabolismPublication . Carvalho, MJ; Laranjo, M; Abrantes, AM; Casalta-Lopes, J; Sarmento-Santos, D; Costa, T; Serambeque, B; Almeida, N; Gonçalves, T; Mamede, C; Encarnação, J; Oliveira, R; Paiva, A; de Carvalho, R; Botelho, F; Oliveira, CThis study aimed to characterize endometrial cancer regarding cancer stem cells (CSC) markers, regulatory and differentiation pathways, tumorigenicity and glucose metabolism. Endometrial cancer cell line ECC1 was submitted to sphere forming protocols. The first spheres generation (ES1) was cultured in adherent conditions (G1). This procedure was repeated and was obtained generations of spheres (ES1, ES2 and ES3) and spheres-derived cells in adherent conditions (G1, G2 and G3). Populations were characterized regarding CD133, CD24, CD44, aldehyde dehydrogenase (ALDH), hormonal receptors, HER2, P53 and β-catenin, fluorine-18 fluorodeoxyglucose ([18F]FDG) uptake and metabolism by NMR spectroscopy. An heterotopic model evaluated differential tumor growth. The spheres self-renewal was higher in ES3. The putative CSC markers CD133, CD44 and ALDH expression were higher in spheres. The expression of estrogen receptor (ER)α and P53 decreased in spheres, ERβ and progesterone receptor had no significant changes and β-catenin showed a tendency to increase. There was a higher 18F-FDG uptake in spheres, which also showed a lower lactate production and an oxidative cytosol status. The tumorigenesis in vivo showed an earlier growth of tumours derived from ES3. Endometrial spheres presented self-renewal and differentiation capacity, expressed CSC markers and an undifferentiated phenotype, showing preference for oxidative metabolism.
- Estimation of the collective ionizing dose in the Portuguese population for the years 2011 and 2012, due to nuclear medicine examsPublication . Costa, F; Teles, P; Nogueira, A; Barreto, A; Santos, A I; Carvalho, A; Martins, B; Oliveira, C; Gaspar, C; Barros, C; Neves, D; Costa, D; Rodrigues, E; Godinho, F; Alves, F; Cardoso, G; Cantinho, G; Conde, I; Vale, J; Santos, J; Isidoro, J; Pereira, J; Salgado, L; Rézio, M; Vieira, M; Simãozinho, P; Almeida, P; Castro, R; Parafita, R; Pintão, S; Lúcio, T; Reis, T; Vaz, PIn 2009-2010 a Portuguese consortium was created to implement the methodologies proposed by the Dose Datamed II (DDM2) project, aiming to collect data from diagnostic X-ray and nuclear medicine (NM) procedures, in order to determine the most frequently prescribed exams and the associated ionizing radiation doses for the Portuguese population. The current study is the continuation of this work, although it focuses only on NM exams for the years 2011 and 2012.
- Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGSPublication . Fidalgo, T; Salvado, R; Corrales, I; Pinto, SC; Borràs, N; Oliveira, A; Martinho, P; Ferreira, G; Almeida, H; Oliveira, C; Marques, D; Gonçalves, E; Diniz, MJ; Antunes, M; Tavares, A; Caetano, G; Kjöllerström, P; Maia, R; Sevivas, T; Vidal, F; Ribeiro, LThe diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF. We compared the classical Sanger sequencing approach and NGS to assess the value-added effect on the analysis of the mutation distribution in different types of VWD. Sixty-two different VWF mutations were identified, 27 of which had not been previously described. NGS detected 26 additional mutations, contributing to a broad overview of the mutant alleles present in each VWD type. Twenty-nine probands (48.3 %) had two or more mutations; in addition, mutations with pleiotropic effects were detected, and NGS allowed an appropriate classification for seven of them. Furthermore, the differential diagnosis between VWD 2B and platelet type VWD (n = 1), Bernard-Soulier syndrome and VWD 2B (n = 1), and mild haemophilia A and VWD 2N (n = 2) was possible. NGS provided an efficient laboratory workflow for analysing VWF. These findings in our cohort of Portuguese patients support the proposal that improving VWD diagnosis strategies will enhance clinical and laboratory approaches, allowing to establish the most appropriate treatment for each patient.
- Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGSPublication . Fidalgo, T; Salvado, R; Corrales, I; Pinto, SC; Borràs, N; Oliveira, A; Martinho, P; Ferreira, G; Almeida, H; Oliveira, C; Marques, D; Gonçalves, Elsa; Diniz, MJ; Antunes, M; Tavares, A; Caetano, G; Kjöllerström, P; Maia, R; Sevivas, TS; Vidal, F; Ribeiro, LThe diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF. We compared the classical Sanger sequencing approach and NGS to assess the value-added effect on the analysis of the mutation distribution in different types of VWD. Sixty-two different VWF mutations were identified, 27 of which had not been previously described. NGS detected 26 additional mutations, contributing to a broad overview of the mutant alleles present in each VWD type. Twenty-nine probands (48.3 %) had two or more mutations; in addition, mutations with pleiotropic effects were detected, and NGS allowed an appropriate classification for seven of them. Furthermore, the differential diagnosis between VWD 2B and platelet type VWD (n = 1), Bernard-Soulier syndrome and VWD 2B (n = 1), and mild haemophilia A and VWD 2N (n = 2) was possible. NGS provided an efficient laboratory workflow for analysing VWF. These findings in our cohort of Portuguese patients support the proposal that improving VWD diagnosis strategies will enhance clinical and laboratory approaches, allowing to establish the most appropriate treatment for each patient.
- Intervenção transtorácica pulmonar guiada por TC aspirativa por agulha fina e biópsiaPublication . Oliveira, C; Candelária, I; Dias, C; Couto, T; Estevão, A
- Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progressionPublication . Oliveira, C; Sousa, S; Pinheiro, H; Karam, R; Bordeira-Carriço, R; Senz, J; Kaurah, P; Carvalho, J; Pereira, R; Gusmão, L; Wen, X; Cipriano, MA; Yokota, J; Carneiro, F; Huntsman, D; Seruca, RBACKGROUND & AIMS: Hereditary diffuse gastric cancer (HDGC) families carry CDH1 heterozygous germline mutations; their tumors acquire complete CDH1 inactivation through "2nd-hit" mechanisms. Most frequently, this occurs via promoter hypermethylation (epigenetic modification), and less frequently via CDH1 mutations and loss of heterozygosity (LOH). We quantified the different 2nd hits in CDH1 occurring in neoplastic lesions from HDGC patients. METHODS: Samples were collected from 16 primary tumors and 12 metastases from 17 patients among 15 HDGC families; CDH1 mutations, LOH, and promoter hypermethylation were analyzed. E-cadherin protein expression and localization were determined by immunohistochemistry. RESULTS: Somatic CDH1 epigenetic and genetic alterations were detected in lesions from 80% of HDGC families and in 75% of all lesions analyzed (21/28). Of the 28 neoplastic lesions analyzed, promoter hypermethylation was found in 32.1%, LOH in 25%, both alterations in 17.9%, and no alterations in 25%. Half of the CDH1 2nd hits in primary tumors were epigenetic modifications, whereas a significantly greater percentage of 2nd hits in metastases were LOH (58.3%; P = .0274). Different neoplastic lesions from the same patient frequently displayed distinct 2nd-hit mechanisms. Different 2nd-hit mechanisms were also detected in the same tumor sample. CONCLUSION: The 2nd hit in CDH1 frequently occurs via epigenetic changes in HDGC primary tumors and LOH in metastases. Because of the concomitance and heterogeneity of these alterations in neoplastic lesions and the plasticity of hypermethylated promoters during tumor initiation and progression, drugs targeting only epigenetic alterations might not be effective, particularly in patients with metastatic HDGC.
- Transarterial embolisation of a large focal nodular hyperplasia, using microspheres, in a paediatric patientPublication . Oliveira, C; Gil-Agostinho, A; Gonçalves, I; Noruegas, MJBenign liver tumours are uncommon in children, haemangiomas being the most frequent. Focal nodular hyperplasia (FNH) represents about 2% of paediatric liver tumours. In children, as in adults, a conservative approach is generally recommended. However, large lesions (greater than 5 cm) are more frequent in the paediatric age group, and in these cases, as well as in growing lesions, surgical removal may be advised. Transarterial embolisation (TAE) has been a successful alternative option described in older patients, especially in cases where surgical removal is not possible. This minimally invasive procedure may also become an option in the paediatric group. The authors report the case of a boy with a large FNH treated with TAE using microspheres.
- Usefulness of Liver and Spleen Acoustic Radiation Force Impulse (ARFI) for the evaluation of cirrhotic patientsPublication . Barbosa, L; Oliveira, C; Fernandes, A; Marques, M; Pereira, J; Sofia, C; Caseiro-Alves, F; Noruegas, MJObjective: To evaluate the correlation between ARFI and Child-Pugh classification. Secondary Aims: 1) To compare ARFI values (hepatic, splenic and spleno-hepatic index) from cirrhotic to normal population; 2) To correlate biochemical parameters of liver function and ARFI. Materials and Methods: 58 cirrhotic patients (referenced to US for surveillance or to clarify any hepatic decompensation) were included in this prospective study, as well as 38 healthy subjects who underwent ultrasonography for other reasons than hepatic evaluation. All had ARFI liver and spleen evaluation on ACUSON S2000 ARFI equipment. The best cut-off liver and spleen values for the diagnosis of cirrhosis in comparison to the normal subjects were determined using SPSS® v20. Results: Mean liver ARFI values in controls and cirrhotic patients were respectively 1.18 ± 0.22 m/s and 2.93 ± 0.50 m/s. The ROC curve demonstrated an AUC 0.998 and the best cut-off was 1.89. Mean spleen ARFI values in controls and cirrhotic patients were respectively 2.60 ± 0.42 m/s and 3.03 ± 0.71. The ROC curve demonstrated an AUC 0.766 and the best cut-off was 2.73 m/s. The splenohepatic index showed a worse AUC than ARFI liver. A weak correlation was found between the ARFI liver and Child-Pugh. We found no statistically significant differences for spleen ARFI values and Child-Pugh. We found a statistically significant correlation between liver ARFI and bilirubin, ALKP, GGT, AST and AST/ALT ratio; and with spleen ARFI and ALKP and AST/ALT ratio. Conclusion: We showed that there is a tendency of higher levels of liver ARFI values for higher Child-Pugh classification suggesting a definite trend for higher values with more severe disease.