56 documents found, page 1 of 6
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Po...
Rodrigues, Diogo; Marcão, Ana; Lopes, Lurdes; Ventura, Ana; Faria, Teresa; Ferrão, Anabela; Gonçalves, Carolina; Kjöllerström, Paula; Castro, AnaThe Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts...
Congenital Sideroblastic Anemia and Iron Overload in Older Age
Gradim , Mariana; Ferreira, FátimaN/A; N/A
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and ...
Brito Avô, Luís; Pereira, Luísa; Oliveira, Anabela; Ferreira, Filipa; Filipe, Paulo; Coelho Rodrigues, Inês; Couto, Eduarda; Ferreira, FátimaAcute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical man...
Clima criativo em sala de aula: Estudo exploratório com alunos do ensino básico
Morais, Maria de Fátima; Martins, Fernanda; Ferreira, FátimaUm clima criativo é um conceito frequentemente abordado na literatura e pode ser uma forma intencional de promover a criatividade, nomeadamente em contexto educativo. Proporcionar este clima criativo é fundamental desde o início do percurso escolar. Por seu lado, as representações, não sendo competências, podem condicionar atitudes e comportamentos, sendo relevante a sua avaliação, inclusivamente no âmbito da c...
Linkage of typically cytosolic peroxidases to erythrocyte membrane - A possible...
Rocha, Susana; Rocha-Pereira, Petronila; Cleto, Maria Esmeralda Da Silva; Ferreira, Fátima; Belo, Luís; Santos-Silva, AliceHereditary Spherocytosis (HS) is a non-immune hemolytic anemia associated to oxidative stress (OS), namely to the linkage of cytosolic antioxidant enzymes to the erythrocyte membrane. Our aims were to evaluate erythrocyte OS changes and the membrane linkage of peroxiredoxin 2 (Prx2), glutathione peroxidase (GPx) and catalase (CAT) in unsplenectomized (unspl) and splenectomized (spl) HS patients and to search fo...
Burnout e Estratégias de Coping nos Médicos de Medicina Geral e Familiar dos Cu...
Sousa-Ferreira, Teresa; Freitas, Catarina; Rocha, Hugo; Moreira, Tânia; Marques, João; Correia, Raquel; Ferreira, FátimaIntrodução: O burnout é um estado de exaustão física, emocional e mental, causado pelo envolvimento duradouro em situações de elevada exigência emocional, no local de trabalho. Os médicos têm uma das profissões consideradas mais stressantes, sendo que os Médicos de Medicina Geral e Familiar (MGF) são dos que estão em maior risco de burnout. As estratégias de coping adotadas são cruciais para a transição de níve...
Refractory Thrombocytopenia in Children: A Case Report
Ferreira, Sofia Helena; Carvalho, Ana Catarina; Rocha, Teresa; Ferreira, Fátima; Brito, Iva.; .
Child’s food consumption and physical exercise: results from a Portuguese descr...
Marques, Goreti; Festas, Constança; Fernandes, Carla Sílvia; Simões, Daniela; Ferreira, Fátima; Pinto, Sara; Jorge, Áurea; Ferreira, GustavoAims: To describe food consumption in Portuguese primary school children, to analyze the influence of food consumption on the body mass index (BMI), and to analyze the relationship between physical exercise and the child's food consumption. Method: A quantitative, descriptive, exploratory, and cross-sectional study was conducted in 2 primary schools of the north of Portugal (n = 109 child). The use of a food re...
Ketogenic diet for refractory childhood epilepsy: beyond seizures control, the ...
Romão Luz, Inês; Pereira, Cristina; Garcia, Paula; Ferreira, Fátima; Faria, Ana; Macedo, Cristiane; Diogo, Luisa; Robalo, ConceiçãoKetogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three months, on epilepsy control, behaviour and awareness. The secondary aims were to evaluate the variation in the number of antiepileptic drugs, reasons for discontinuing the diet and adverse ...
Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the ...
Romão Luz, Inês; Pereira, Cristina; Garcia, Paula; Ferreira, Fátima; Faria, Ana; Macedo, Cristiane; Diogo, Luísa; Robalo, ConceiçãoIntroduction: Ketogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three months, on epilepsy control, behaviour and awareness. The secondary aims were to evaluate the variation in the number of antiepileptic drugs, reasons for discontinuing the die...