61 documents found, page 1 of 7
Hipercolesterolemia familiar homozigótica em Portugal: caracterização de casos ...
Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Aguiar, Patrício; Amaro, Mário; Bruges, Margarida; Ferreira, SofiaHipercolesterolemia Familiar (FH) é uma condição autossómica semidominante causada por variantes patogénicas ou provavelmente patogénicas nos genes LDLR, APOB e PCSK9. A FH pode apresentar-se na forma monoalélica (FH heterozigótica) ou bialélica (FH homozigótica). A forma homozigótica é mais rara e com fenótipo mais grave. Indivíduos com FH homozigótica geralmente apresentam hipercolesterolemia severa (LDL>400m...
Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on ...
Marques, Lúcia; Lipari Pinto, Patrícia; Loureiro Cadilha, Hugo; Janeiro, Patrícia; Gaspar, AnaGlutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces. We present the case of an infant with macrocephaly since birth, diagnosed with glutaric aciduria type 1 through newborn screening, who exhibited accelerated cephalic growth during follow-up. At eight months of age, cranial magnetic resonance imaging...
The All4Children project to assess the initial implementation of the Integrated...
Baptista, Joana; Grangeia, Helena; Negrão, Mariana; Camilo, Cláudia; Ornelas, Sandra; Nogueira, Sandra; Pastor, Isabel; Gaspar, Ana; Soares, IsabelBackground: The All4Children project addresses the urgent need to transition from institutionalization to family-based care for out-of-home children in Portugal. Despite evidence highlighting the detrimental effects of institutionalization, only a small percentage of children (less than 4%) are currently placed in family foster care in the country. In response to European directives for deinstitutionalization, ...
Doenças mitocondriais na era da sequenciação de nova geração: estudo de 450 doe...
Nogueira, Célia; Pereira, Cristina; Silva, Lisbeth; Laranjeira, Mateus; Lopes, Altina; Neiva, Raquel; Rodrigues, Esmeralda; Campos, TeresaAs doenças mitocondriais (DM) são doenças raras, clínica e geneticamente heterogéneas, de difícil diagnóstico, para as quais não existe uma terapia eficaz. O desenvolvimento da tecnologia de sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular deste grupo de doenças, permitindo a identificação de novos genes associados a estas patologias. Nesta nova era genética, através da utilização da tecn...
Major determinants of primary non function from kidney donation after Maastrich...
Gaspar, Ana; Gama, Madalena; Nobre De Jesus, Gustavo; Querido, Sara; Damas, Juliana; Oliveira, João; Neves, Marta; Santana, Alice; Ribeiro, João MiguelPurpose: Organ shortage greatly limits treatment of patients with end-stage chronic kidney. Maastricht type 2 donation after circulatory death (DCD) has been shown to have similar results in long term outcomes in kidney transplantation, when compared with brain dead donation. Our main goal was to assess Maastricht type 2 DCD and evaluate factors that impact on early graft function. Methods: A retrospective stud...
Leukocyte Imbalances in Mucopolysaccharidoses Patients
Lopes, Nuno; Maia, Maria L.; Pereira, Cátia S.; Mondragão-Rodrigues, Inês; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, PatrícioMucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate storage in the lysosomes. In MPS VI, there is dermatan s...
Regulação emocional e competências sociais em crianças e jovens institucionaliz...
Pinto, Tânia; Gaspar, Ana; Fernandes, Rosina; Martins, Emília; Mendes, FranciscoRisk situations in childhood and youth are often characterized by the failure in meeting physical and socio-emotional needs with an impact on children and young people development. Institutionalization emerges as a measure of promotion and protection, with a fundamental role in promoting emotional regulation and the development of social skills. This quantitative, non-experimental and exploratory study aimed to...
Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health ...
Lipari Pinto, Patrícia; Florindo, Cristina; Janeiro, Patrícia; Santos, Rita Loureiro; Mexia, Sandra; Rocha, Hugo; Tavares de Almeida, IsabelThe early diagnosis of and intervention in vitamin B12 deficiency in exclusively breastfed infants by mothers with low vitamin B12 is crucial in preventing possible irreversible neurologic damage, megaloblastic anemia, and failure to thrive. We assess the usefulness of the early detection of asymptomatic B12 deficiency related to acquired conditions and highlight the importance of monitoring serum vitamin B12 l...
Familial chylomicronemia syndrome in Portugal
Alves, Ana Catarina; Miranda, Beatriz; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, RuteFamilial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, andliapemiaretinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL)....
Combining an HA + CU (II) site-targeted copper-based product with a pruning wou...
Reis, Pedro; Gaspar, Ana; Alves, Artur; Fontaine, Florence; Rego, CecíliaThe genus Lasiodiplodia has been reported from several grape growing regions and is considered as one of the fastest wood colonizers, causing Botryosphaeria dieback. The aim of this study was to (i) evaluate the efficacy of Esquive®, a biocontrol agent, on vineyard pruning wound protection, applied single or, in a combined protection strategy with a new site-targeted copper-based treatment (LC2017), and (ii) co...