25 documents found, page 1 of 3
Vismodegib for Treatment of Periocular Basal Cell Carcinoma – 6-Year Experience...
Xavier, C; Lopes, E; Bexiga, C; Moura, C; Gouveia, E; Duarte, AFBackground: The treatment of advanced periocular basal cell carcinomas becomes a challenge as surgery may involve highly mutilating procedures. Vismodegib is the first selective hedgehog inhibitor approved for the treatment of locally advanced tumors or metastatic disease. Objective: Analyze the results of treatment with vismodegib for advanced periocular basal cell carcinomas in a real-life setting of a refere...
GJB2: Frequency of the less common variants in a sample of the Portuguese popul...
Reis, CS; Santos, AC; Barros, H; Fernandes, S; Moura, CIntroduction: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients. Material and Methods: In order to select the less common GJB2 variants, ...
Visceral dissemination of mucocutaneous leishmaniasis in a kidney transplant re...
Marques, N; Bustorff, M; Cordeiro-da-Silva, A; Pinto, AI; Santarém, N; Ferreira, F; Nunes, A; Cerqueira, A; Rocha, A; Ferreira, I; Tavares, I; Santos, JIntracellular protozoan of the genus Leishmania, endemic in the Mediterranean basin, are the cause of cutaneous (CL), mucocutaneous (MCL), and visceral leishmaniasis (VL). A 75-year-old woman was admitted nine years after a second kidney transplant (KT), due to persistent pancytopenia and fever. She presented edema and erythema of the nose in the last two years and an exophytic nodular lesion located on the lef...
Gender differences in the effect of adiposity on markers of cardiovascular risk...
Leal, DA; Correia-Costa, L; Moura, C; Mota, C; Correia-Costa, A; Areias, JC; Guerra, A; Afonso, AC; Azevedo, AINTRODUCTION: In the last years, evidence has started to emerge on the presence of cardiometabolic differences between genders before puberty. This study aims to evaluate if the association between obesity and markers of cardiovascular risk is different between genders in 8 to 9-year-olds. METHODS: Cross sectional study of 315 children (167 boys) aged 8-9 years old, followed in the birth cohort Generation XXI (...
High-throughput sequencing identifies 3 novel susceptibility genes for heredita...
Campos, C; Fragoso, S; Luís, R; Pinto, F; Brito, C; Esteves, S; Pataco, M; Santos, S; Machado, P; Vicente, JB; Rosa, JC; Cavaco, BM; Moura, C; Pojo, MCutaneous melanoma is one of the most aggressive human cancers due to its high invasiveness. Germline mutations in high-risk melanoma susceptibility genes have been associated with development hereditary melanoma; however, most genetic culprits remain elusive. To unravel novel susceptibility genes for hereditary melanoma, we performed whole exome sequencing (WES) on eight patients with multiple primary melanoma...
Darier Disease: First Molecular Study of a Portuguese Family
Almeida, A; Lobo, ML; Moura, C; Rivera, IBackground: Darier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (ATP2A2) gene, which encodes an ATPase responsible for pumping Ca2+ from the cytosol to the lumen of the ER....
Spectrum of CFTR gene sequence variants in a northern Portugal population
Grangeia, A.; Alves, S.; Gonçalves, L; Gregório, I; Santos, AC; Barros, H; Barros, A; Carvalho, F; Moura, CIn Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibros...
Neurocognitive profiles in adolescents and young adults with congenital heart d...
Areias, ME; Peixoto, B; Santos, I; Cruz, L; Regadas, A; Pinheiro, C; Monteiro, H; Araújo, S; Carvalho, T; Miranda, J; Moura, C; Soares, J; Viana, VictorIntroduction and Objectives: The objectives of this study were to assess the neuropsychological performance (NP) of adolescents and young adults with congenital heart disease (CHD), comparing them with a group of healthy controls, to determine whether there are different neurocognitive phenotypes in CHD, and to identify their relation to sociodemographic, neonatal, clinical and psychological adjustment variable...
Spectrum of CFTR gene sequence variants in a northern Portugal population
Grangeia, A; Alves, S; Gonçalves, L; Gregório, I; Santos, AC; Barros, H; Barros, A; Carvalho, F; Moura, CIn Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibros...
Association of myeloperoxidase levels with cardiometabolic factors and renal fu...
Costa, L; Sousa, T; Morato, M; Cosme, D; Afonso, J; Moura, C; Mota, C; Areias, JC; Guerra, A; Schaefer, F; Afonso, AC; Barros, H; Albino-Teixeira, AINTRODUCTION: Myeloperoxidase (MPO), an enzyme linking obesity and cardiovascular (CV) risk in adults, has rarely been studied in young children and no studies assessed its association with renal function. We sought to explore a possible association between serum MPO levels, obesity, CV risk factors and renal function in prepubertal children. MATERIALS/METHODS: Cross-sectional evaluation of 309 children aged 8-...