27 documents found, page 1 of 3
Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological W...
Pinto, C; Malaquias, MJ; Miranda, HP; Temudo, T; Silva, E; Ramos, C; Magalhaes, MBackground Neurological Wilson's disease (WD) presentation in the pediatric population is rare, and liver transplantation (LT) in these patients remains controversial. The aim of the present study was to assess the role of brain magnetic resonance imaging (MRI) in predicting reversion of brain lesions and neurological outcomes in pediatric WD patients after LT. Methods Patients with confirmed WD (Leipzig score ...
Subpial Hemorrhage : A Distinctive Neonatal Stroke Pattern
Pinto, C; Cunha, B; Pinto, MM; Conceição, CBackground and purpose: Subpial hemorrhage is a rare form of neonatal stroke, still poorly understood. The aim of this study was to characterize a cohort of term and preterm neonates with subpial hemorrhages and contribute to a better knowledge of this condition. Material and methods: Clinical records and magnetic resonance (MR) imaging data of all neonates with subpial hemorrhage followed at a pediatric hospit...
Generation of Two Paclitaxel-Resistant High-Grade Serous Carcinoma Cell Lines W...
Nunes, M; Silva, PMA; Coelho, R; Pinto, C; Resende, A; Bousbaa, H; Almeida, GM; Ricardo, SDebulking surgery followed by chemotherapy are the standard of care for high-grade serous carcinoma. After an initial good response to treatment, the majority of patients relapse with a chemoresistant profile, leading to a poor overall survival. Chemotherapy regimens used in high-grade serous carcinomas are based in a combination of classical chemotherapeutic drugs, namely, Carboplatin and Paclitaxel. The mecha...
Acid sphingomyelinase deficiency: A clinical and immunological perspective
Pinto, C; Sousa, D; Ghilas, V; Dardis, A; Scarpa, M; Macedo, MFAcid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of varying degrees of sphingomyelin. Lipid storage leads to foam cell infiltration in tissues, and clinical features including hepatosplenomegaly, pulmonary insufficiency and in some cases central nervous system involvement. ASM enzyme replacement...
Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer P...
Peixoto, A; Pinto, P; Guerra, J; Pinheiro, M; Santos, C; Pinto, C; Santos, R; Escudeiro, C; Bartosch, C; Canário, R; Barbosa, A; Gouveia, A; Petiz, ADeleterious variants in the BRCA1/BRCA2 genes and homologous recombination deficiency (HRD) status are considered strong predictors of response to poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi). The introduction of PARPi in clinical practice for the treatment of patients with advanced ovarian cancer imposed changes in the molecular diagnosis of BRCA1/BRCA2 variants. BRCA1/BRCA2 tumor testing by next-gen...
Galactose Epimerase Deficiency: Expanding the Phenotype
Dias-Costa, F; Ferdinandusse, S; Pinto, C; Dias, A; Keldermans, L; Quelhas, D; Matthijs, G; Mooijer, PA; Diogo, L; Jaeken, J; Garcia, PGalactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardi...
Acute liver failure related to inherited metabolic diseases in young children
Dias-Costa, F; Moinho, R; Ferreira, S; Garcia, P; Diogo, L; Gonçalves, I; Pinto, CINTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted t...
Shelf-life extension of watermelon juice preserved by hyperbaric storage at roo...
Pinto, C; Moreira, S.A.; Santos, M.D.; Delgadillo, I.; Saraiva, J.A.; Fidalgo, LilianaThis work reports Hyperbaric Storage (HS) preservation of raw watermelon juice at variable/uncontrolled room temperature (RT,z21 C) for 7 days at 100 MPa and compared it with refrigeration (RF). At the end of storage, there was an increase in microbial counts (total aerobic mesophiles, psychrophiles, and yeasts and moulds) to above 6 log10 CFU/mL for samples stored at atmospheric pressure (RF and RT), while jui...
Urocortina-2 atenua a disfunção ventricular direita e a hipertensão arterial pu...
Adão, R; Mendes-Ferreira, P; Maia-Rocha, C; Santos-Ribeiro, D; Pinto, C; Pimentel, L; Potus, F; Breuils-Bonnet, S; Provencher, S; Bonnet, S
O papel do Microrna-146A na hipertensão arterial pulmonar
Mendes-Ferreira, P; Santos-Ribeiro, D; Maia-Rocha, C; Adão, R; Pimentel, L; Pinto, C; Potus, F; Leite-Moreira, A. F; Provencher, S; Bonnet, S