15 documents found, page 1 of 2
Homozygosity for a rare FASTKD2 variant resulting in an adult onset autosomal r...
Gonçalves, Francisco Pereira; Tavares, Isabel; Silva, Roberto; Nunes, Ana Teresa; Pereira, Luciano; Campos, Andreia; Pinto, Joel; Lopes, AnaMitochondrial cytopathies can have kidney involvement in up to half of cases. Their diagnosis is challenging due to phenotypic variability, lack of noninvasive tests to assess mitochondrial dysfunction, and genetic heterogeneity. We report on a young adult male with hypertrophic cardiomyopathy (HCM) and chronic kidney disease (CKD) with subnephrotic proteinuria who presented to the emergency department with kid...
GenEye24: Novel Rapid Screening Test for the Top-3 Leber's Hereditary Optic Neu...
Martins, Sara; Santos, Maria João; Teixeira, Márcia; Diogo, Luisa; Macário, Maria do Carmo; Pedro Marques, João; Fonseca, Pedro; Grazina, ManuelaLeber's Hereditary Optic Neuropathy (LHON) has been mainly (90-95%) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. Ninety-four samples were an...
Identification of a novel mutation in MEF2C gene in an atypical patient with fr...
Adrião, Andreia; Santana, Isabel; Ribeiro, Carolina; Cancela, M. Leonor; Conceição, Natércia; Grazina, ManuelaThe MEF2C gene encodes a transcription factor known to play a crucial role in molecular pathways affecting neuronal development. MEF2C mutations were described as a genetic cause of developmental disease (MRD20), and several reports sustain its involvement in dementia-related conditions, such as Alzheimer's disease and amyotrophic lateral sclerosis. These pathologies and frontotemporal degeneration (FTLD) are t...
MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the ...
Silva, Filipe; Ferreira, Filipa; Faria, Pedro; Sobral, Isa; Rodrigues, Mariana; Pratas, João; Silva, Filipe; Grazina, Manuela; Moura Pereira, JoséPrimary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotype in a group o...
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile
Jacinto, Sandra; Guerreiro, Patrícia; Oliveira, Rita Machado de; Oliveira, Teresa Cunha; Santos, Maria João; Grazina, Manuela; Rego, A. CristinaMutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be...
MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the ...
Silva, Filipe; Ferreira, Filipa; Faria, Pedro; Sobral, Isa; Rodrigues, Mariana; Pratas, João; Silva, João Filipe; Grazina, Manuela; Moura Pereira, JoséIntroduction: Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotyp...
MPV17 mutations are associated with a quiescent energetic metabolic profile
Jacinto, Sandra; Guerreiro, Patrícia; de Oliveira, Rita Machado; Cunha-Oliveira, Teresa; Santos, Maria João; Grazina, Manuela; Rego, Ana CristinaMutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be...
Glutaminemia prognostic significance in critical surgical patients - An analysi...
Costa, Beatriz Pinto; Martins, Paulo; Veríssimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Sousa, Francisco CastroBackground: Glutamine depletion is common in the critically-ill patients. Glutaminemia lower than 420 μmol/l has been considered as an independent predictive factor of mortality, but the indications for exogenous glutamine supplementation remain controversial. This study intends to determine the glutaminemia profi le in critical surgical patients and to investigate its correlation with the severity indexes and ...
Intestinal dysfunction in the critical trauma patients - An early and frequent ...
Costa, Beatriz Pinto; Martins, Paulo; Veríssimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Sousa, Francisco CastroBackground: Small-bowel dysfunction exerts a relevant prognostic impact in the critically ill patients. Citrullinemia has been used in the evaluation of the intestinal function and it is considered an objective parameter of the functional enterocyte mass. Present study proposes to determine the intestinal dysfunction prevalence and the citrullinemia kinetic profi le in severe trauma patients and to investigate ...
Argininemia and plasma arginine bioavailability - predictive factors of mortali...
Costa, Beatriz P.; Martins, Paulo; Veríssimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Sousa, Francisco CastroBackground: Arginine is an amino acid determinant in the metabolic, immune and reparative responses to severe trauma. The present study aims to determine argininemia and plasma arginine bioavailability (PAB) in critical trauma patients and to analyze its correlation with prognosis. Methods: A prospective study of 23 critical trauma patients was undertaken. Aminoacidemias were determined, by ion exchange chromat...