4 documents found, page 1 of 1
Osteogénese Imperfeita Em Adultos: A Experiência de um Centro Hospitalar
Martins,Rute Sousa; Baptista,Patrícia; Rocha,Sara; Guimas,Arlindo; Ribeiro,RosaResumo Introdução: A osteogénese imperfeita (OI) é uma doença genética rara caraterizada principalmente pela fragilidade óssea, podendo ter uma série de manifestações sistémicas. A sua gestão implica uma abordagem multidisciplinar. Os autores pretendem descrever as caraterísticas de uma população adulta com OI e avaliar o tratamento usado. Material e Métodos: Estudo observacional e retrospetivo com base nos dad...
Acute hyperammonemic encephalopathy - an indication for an extracorporeal depur...
Silva,Filipa; Tavares,Joana; Castro,Ana; Guimas,Arlindo; Freitas,Cristina; Pimentel,João Pedro; Cabrita,AntónioABSTRACT Introduction: Ammonia is a resultant molecule from the protein metabolism that can be neurotoxic when present in high concentrations, causing brain edema and encephalopathy. Extracorporeal blood purification technique (EBPT) can play a role in reducing both ammonia and urea blood levels. However, there are no specific guidelines for its use in hyperammonemia, due to its low incidence and scarce literat...
Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Lo...
Barbosa,Catarina Sousa; Almeida,Manuela F.; Sousa,Cátia; Rocha,Sara; Guimas,Arlindo; Ribeiro,Rosa; Martins,Esmeralda; Bandeira,AnabelaAbstract In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-201...
Diffuse plane xanthomatosis associated with monoclonal gammopathy
Rosmaninho,Aristóteles; Fernandes,Iolanda; Guimas,Arlindo; Amorim,Isabel; Selores,ManuelaDiffuse plane normolipemic xanthomatosis (DPNX) is a rare, non-inherited disease that is often associated with systemic diseases, mainly malignant hematological (especially multiple myeloma) or lymph proliferative disorders. The DPNX can precede the appearance of such conditions by several years, so careful follow-up and periodic laboratory examinations are recommended even for patients that seemed to have no u...