29 documents found, page 1 of 3
Mucopolissacaridoses em população pediátrica: resultados de uma abordagem de pr...
Gaspar, Paulo; Neiva, Raquel; Silva, Lisbeth; Diogo, Luísa; Ferreira, Ana Cristina; Miranda, Ana M.; Antunes, Diana; Louro, Pedro; Ribeiro, SaraAs Mucopolissacaridoses (MPSs), constituem um subgrupo das Doenças Lisossomais de Sobrecarga, causadas por deficiências em enzimas lisos somais, que catalisam a degradação dos glicosaminoglicanos. As MPSs têm apresentação multissistémica, heterogénea e consequentemente de diagnóstico difícil. O projeto FIND tem como objetivo alertar os clínicos para sinais e sintomas de risco ao mesmo tempo que disponibiliza um...
X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should ...
Lopes das Neves, Pedro; Durães, João; Monteiro, Isabel; Diogo, Luísa; Macário, Maria do CarmoX-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disease caused by a mutation in gene ABCD1, impairing peroxisomal b-oxidation of very long-chain fatty acids. It has a heterogeneous clinical presentation that may difficult the diagnosis, with three main phenotypes: an Addison syndrome-like phenotype with adrenal insufficiency; a myeloneuropathic form, which progresses as a spastic paraparesis; a cere...
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...
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values ...
Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oona; Espírito Santo, Raquel; Gouveia Silva, Raquel; Soares Cardoso, Sandra; Diogo, LuísaDyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations...
Mitochondrial fatty acid β-oxidation disorders: from disease to lipidomic studi...
Guerra, Inês M. S.; Ferreira, Helena B.; Melo, Tânia; Rocha, Hugo; Moreira, Sónia; Diogo, Luísa; Domingues, Maria Rosário; Moreira, Ana S. P.Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chain (3-hydroxy) FAs (and their carnitine derivatives), respectively. These deregulations are associated with lipotoxicity which affects several organs and potentially leads to l...
Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studi...
Guerra, Inês M.S.; Ferreira, Helena B.; Melo, Tânia; Rocha, Hugo; Moreira, Sónia; Diogo, Luísa; Domingues, Maria Rosário; Moreira, Ana S.P.Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chain (3-hydroxy) FAs (and their carnitine derivatives), respectively. These deregulations are associated with lipotoxicity which affects several organs and potentially leads to l...
Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
Pinto Silva, Catarina; Almeida, Joana; Diogo, Luísa; Nobre, SusanaPhosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients. A six-month-old girl was referred to the emergency department due to severe cytolysis without coagulopathy, found during the investigation of a pyelonephritis. Phy...
Plasma phospholipidomic profile differs between children with phenylketonuria a...
Guerra, Inês M. S.; Diogo, Luísa; Pinho, Marisa; Melo, Tânia; Domingues, Pedro; Domingues, M. Rosário; Moreira, Ana S. P.Phenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In the present study, the plasma phospholipidome of PKU and healthy childr...
Fenilcetonúria em Portugal: 40 anos de rastreio neonatal (1979-2019)
Ferreira, Filipa; Sousa, Luísa Azevedo Carmen; Neiva, Raquel; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; Carmona, Célia; Ramos, Sónia; Bandeira, AnabelaA fenilcetonúria (PKU) é uma doença genética autossómica recessiva, devido a um erro hereditário do metabolismo dos aminoácidos. A PKU caracteriza-se por um aumento de fenilalanina, em resultado de uma deficiência da enzima hepática, fenilalanina hidroxilase (PAH), uma enzima codificada pelo gene PAH. É uma das 26 patologias integradas no painel das doenças rastreadas em Portugal, a partir de sangue colhido em ...
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...