Encontrados 13 documentos, a visualizar página 1 de 2
Fragile X syndrome: intergenerational allele instability and associated phenoty...
Joana, Loureiro; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelFragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. This disease is caused by a (CGG)n expansion in the 5’UTR of the FMR1 gene, which as a result is methylated and gene silenced. Four classes of alleles can be found based on CGG repeat length: normal (5-44), intermediate (45-54), premutation (55-200) and full muta...
Development of applications for domotic systems using object oriented programmi...
Henrique M. F. Vale; José A. C. Duarte; Sidónio M. Brazete; A. Manuel de Oliveira DuarteThis paper describes the development of applications for domotic systems using object oriented programming in C++, made as a final project of Electronic Engineering graduation .During this work, was developed a communications systemto link the apartments and make management ofinformation on the building, using CATV network. Thesoftware that supports the communications and performsthe management of information w...
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...
Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, PaulaThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
FMR1 premutations may be associated with a wider spectrum of phenotypes
Seixas, Ana; Vale, José; Martins, Márcia; Loureiro, Joana; Jorge, Paula; Maques, Isabel; Santos, Rosário; Coutinho, Paula; Margolis, RussellThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
Intellectual Capital in a Seaport Context
Vale, José António; Branco, Manuel; Ribeiro, JoãoThis poster, which is the result of an ongoing PhD thesis project, illustrates how and why the Intellectual Capital (IC) concept can be applied to a seaport. As far as the authors are aware, most of the research in IC has been focused on individual firms. Although some recent papers examine macro-level organizations, such as regions, none exist on seaports. Also, there is a lack of research related to the ways ...
Post-malaria neurologic syndrome.
Matias, Gonçalo; Canas, Nuno; Antunes, Isabel; Vale, JoséThe neurologic symptoms in malaria are usually associated with a severe infection by Plasmodium falciparum. Less frequently, the presence of impaired consciousness, seizures and visual and auditory deficits is related with hypoglycemia (by malaria or quinine) or with the toxicity of anti-malarial drugs. In the last years, it was recognized a rare neurologic complication after the efficient treatment of Plasmodi...
Estudo laboratorial de misturas de solo-cimento para aplicação em Jet Grouting
Valente, Tiago; Correia, A. Gomes; Vale, José Machado do; Barata, J.; Cebola, Duílio; Coelho, SandraNeste artigo é apresentado o estudo laboratorial de formulações de solo-cimento para suporte da realização de colunas teste de Jet Grouting. São apresentados os resultados dos ensaios de caracterização das formulações estudadas, nomeadamente a resistência à compressão simples (450 provetes), módulos de deformabilidade inicial, máximo, tangente e secante a 50% (18 provetes) e a massa volúmica das misturas de sol...
Estudo da cicatrização de suturas na bexiga urinária de ratos com e sem a utili...
Maia,José Maria Ayres; Czeczko,Nicolau Gregori; Ribas Filho,Jurandir Marcondes; Dietz,Ulrich Andreas; Duck,DanielleINTRODUÇÃO: A sutura dos tecidos e sua cicatrização é um dos fundamentos básicos da cirurgia e a procura de substâncias que melhorem este processo é desafio constante. O uso de substâncias retiradas de plantas tem sido testado há muitos anos, contudo sem ainda terem comprovação científica consolidada. OBJETIVO: Comparar as alterações macroscópicas e histológicas proporcionadas pelo uso do extrato bruto da Jatro...
Estudo comparativo da cicatrização de gastrorrafias com e sem o uso do extrato ...
Vale,José de Ribamar; Czeczko,Nicolau Gregori; Aquino,José Ulcijara; Ribas-Filho,Jurandir Marcondes; Bettega,LucianoINTRODUÇÃO:A cicatrização do trato gastrintestinal é de grande importância na história da cirurgia, buscando-se tipos de fios e pontos apropriados e os diversos fatores que a influenciam. O uso de fitoterápicos como aceleradores da cicatrização tem sido feito por muitos anos sendo objetivo atual de pesquisas para a comprovação científica dessas propriedades terapêuticas. OBJETIVO: Avaliar o uso do extrato bruto...
Thyrotoxic periodic paralysis: a case report.
Vale, José; Canas, Nuno; Leal, Alberto; Vilar, HelenaThyrotoxic periodic paralysis (TPP) is characterized by recurrent episodes of muscle weakness and hypokalemia associated with thyroid hyperactivity. Reported predominantly among individuals of Asian descent, TPP is a rare manifestation of hyperthyroidism in western populations. We describe a typical case of TPP in a 33-year-old portuguese male, who presented with acute tetraparesis associated with hypokalemia (...
| Financiadores do RCAAP | |||||||
|
|
|
|
|
|
||