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...
Individualized and multidisciplinary approach of syncope in the elderly: a case...
Correia,Sofia Oliveira; Pereira,Daniel; Ribeiro,RosaSyncope is a frequent reason for emergency room visits. In the elderly, multiple chronic conditions can difficult the diagnosis. In this case, an unexpected association between symptoms and the final diagnosis was a clinical challenge. An 80-year-old Caucasian man presents with syncopal episodes after a cough. Dizziness and visual changes were the only preceding complaints. Structured assessment is needed to fa...
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...
The avirulence of the cultivated PF strain of Trypanosoma cruzi: V - the evalua...
Menezes,Humberto; Ribeiro,RosaAfter vaccination with the live PF strain of Trypanosoma cruzi, 194 blood cultures were performed in 143 mice, 9 dogs, 5 Cebus monkeys and 7 human subjects. Some of these blood cultures were simultaneously done with xenodiagnosis, subinoculation in baby mice and/or culture of viscerae. The trypanosomes isolated from the few positive cases (6,1%) were incapable of infecting baby mice were considered as cases of ...