Encontrados 24 documentos, a visualizar página 1 de 3
Atypical Phenotype in Two Patients with LAMA2 Mutations
Marques, J; Duarte, S; Costa, S; Jacinto, S; Oliveira, J; Oliveira, M; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Calado, E; Evangelista, TCongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
Auditoria à prática profilática e incidência de náuseas e vómitos pós-operatóri...
Mota, A.; Saraiva, A.; Duarte, S.; Pereira, F.; Araújo, M.; Amadeu, E.Introdução: As NVPO são uma das principais queixas dos doentes do pós-operatório. Este trabalho teve como objetivo registar a prática farmacológica para profilaxia de NVPO em cirurgia programada e avaliar a sua eficácia. Metodologia: Incluídos todos os doentes submetidos a cirurgia programada das especialidades de Cirurgia Geral, Urologia e Cirurgia Vascular entre 3 e 21 de Dezembro de 2012. Excluídos se alta...
Determination of ochratoxin A in bread: evaluation of microwave-assisted extrac...
Paíga, Paula; Morais, Simone; Oliva-Teles, Maria Teresa; Correia, Manuela; Delerue-Matos, Cristina; Sousa, Ana M. M.; Gonçalves, Maria PilarAn analytical method using microwave-assisted extraction (MAE) and liquid chromatography (LC) with fluorescence detection (FD) for the determination of ochratoxin A (OTA) in bread samples is described. A 24 orthogonal composite design coupled with response surface methodology was used to study the influence of MAE parameters (extraction time, temperature, solvent volume, and stirring speed) in order to maximize...
A synthetic biology approach to engineer "therapeutic" bacteria
Duarte, S. O. D.; Paulo, J.; Machado, C. D.; Rocha, I.; Mergulhão, Filipe; Rodrigues, L. R.; Monteiro, G. A.The high incidence and mortality of solid tumors like breast cancer makes the development of novel therapeutic agents a high priority. Curcumin, a natural substance from the rhizome of Curcuma longa, has captured the attention of the scientific community. Pre-clinical trials and extensive research has demonstrated its ability to prevent cancer. Indeed, curcumin has been shown to target critical genes involved i...
Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center
Duarte, S; Sequeira, S; Rodrigues, R; Calado, ENeurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism compr...
Analysis of Synaptic Proteins in the Cerebrospinal Fluid as a New Tool in the S...
Duarte, S; Ortez, C; Pérez, A; Artuch, R; García-Cazorla, AAbstract In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiological and diagnostic purposes in investigation of inherited disorders of neurotransmis...
Final state interactions effects on kinetic energy sum spectra in nonmesonic we...
Barbero,C.; Mariano,A.; Duarte,S.B.We analyze the effect of final state interactions (FSI) on coincidence spectra in nonmesonic hypernuclear weak decay, ΛN → nN, as a function of the kinetic energy sum, EnN = En+ E N, both for np and nn events. Adopting a formalism recently developed, the effects of FSI originated from the interaction between the outgoing nucleons and those in the residual core are included analytically in a very simp...
Ochratoxin A exposure assessment of the inhabitants of Lisbon during winter 200...
Duarte, S. C.; Bento, J. M. V.; Pena, A.; Lino, C. M.A survey on the occurrence of ochratoxin A (OTA) in 41 bread samples was carried out in the Portuguese capital, Lisbon. Maize (5) and wheat bread (36) and 43 representative urine samples from the Lisbon region were assayed for OTA levels using immunoaffinity column cleanup (IAC) and HPLC with fluorimetric detection (LC-FD). The percentage of OTA-positive samples was slightly higher for maize bread (80%) than wh...
Estenose da artéria renal em Pediatria - a propósito de um caso clínico
Duarte, S.; Marçal, M.; Antunes, M.; Teixeira, A.; Anjos, R.; Rodrigues, G.A hipertensão renovascular representa 5 a 25% dos casos de hipertensão arterial (HTA) na criança e adolescente. Por ser uma causa tratável de HTA, é importante o diagnóstico atempado e a precocidade do tratamento, reduzindo as complicações decorrentes de uma HTA mantida. Apresenta-se o caso clínico de uma jovem de 16 anos com antecedentes de enxaqueca que recorreu a uma consulta de Pediatria por agravamento das...
Janela Aortopulmonar - Uma Causa Rara de Insuficiência Cardíaca Congestiva em L...
Marçal, M.; Duarte, S.; Mendes, P.; Teixeira, A.; Rodrigues, R.; Abecasis, M.; Anjos, R.; Martins, M.RESUMO A janela aortopulmonar é uma cardiopatia congénita rara, em que se verifica uma comunicação entre a aorta ascendente e a artéria pulmonar, com aparelhos valvulares distintos. Em 50% dos casos coexistem outros defeitos cardíacos. As manifestações clínicas são inespecíficas e geralmente precoces, traduzidas por sinais e sintomas de insuficiência cardíaca, comuns a outras situações de shunt esquerdo-direito...
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