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O Síndrome da Morte Súbita, Inesperada e Inexplicada do Lactente (MSIL) em Port...
L., Guimarães; P. M., Pereira; Sousa M. J., Carneiro de; J., Pinheiro; A., Santos; A., Silva; D. N., Vieira; J., SequeirosO síndrome da morte súbita, inesperada e inexplicada do lactente (MSIL) ocorre normalmente entre 1M e 1 A de vida, com um máximo entre os 2 e os 4M, constituindo a principal causa de morte pós-neonatal nos países desenvolvidos.A MSIL ocorre quase sempre no domicílio e constitui em geral um achado isolado numa família, embora ocasionalmente se repita em irmãos. Em Portugal foi já observada uma família com 6 caso...
Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migra...
Quintas, M.; Neto, J.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Sousa, A:; Alonso, I.; Lemos, C.Migraine is a common neurological episodic disorder with a female-to-male prevalence 3- to 4-fold higher, suggesting a possible X-linked genetic component. Our aims were to assess the role of common variants of gammaaminobutyric acid A receptor (GABAAR) genes, located in the X-chromosome, in migraine susceptibility and the possible interaction between them. An association study with 188 unrelated cases and 286 ...
Assessing risk factors for migraine: differences in gender transmission
Lemos, C.; Alonso, I.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.Abstract AIM: Our aim was to assess which specific factors are contributing to an increased risk of migraine in a group of 131 Portuguese families. METHODS: We studied 319 first-degree relatives, using a multilevel approach to account for the dependency among members from the same family. We included in the model relative's gender, the proband's gender and age-at-onset, to evaluate if any of these variables we...
A role for endothelin receptor type A in migraine without aura susceptibility? ...
Lemos, C.; Neto, J.; Pereira-Monteiro, J.; Mendonça, D.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.Abstract BACKGROUND AND PURPOSE: Migraine is a common neurological disabling disorder, and anomalies of vascular function have been implied in its pathophysiology. Several findings point to a possible role of the endothelin receptor type A (EDNRA) in migraine. We aim to assess the involvement of endothelin receptor type A (EDNRA) in migraine susceptibility in a sample of Portuguese migraineurs. METHODS: Three...
BDNF and CGRP interaction: implications in migraine susceptibility
Lemos, C.; Mendonça, D.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.Abstract OBJECTIVES: Migraine pathophysiology involves several pathways. Our aims were to explore a possible role of the brain-derived neurotrophic factor gene (BDNF) in migraine susceptibility; to study, for the first time, the calcitonin gene-related peptide gene (CGRP); and a possible interaction between the two. METHODS: Using a case-control approach, four tagging single nucleotide polymorphisms (SNPs) (r...
Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese st...
Lemos, C.; Pereira-Monteiro, J.; Mendonça, D.; Ramos, E.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.Abstract OBJECTIVE: To confirm syntaxin 1A as a risk factor for migraine, given that syntaxin 1A interacts with several factors in migraine pathophysiology. DESIGN: Case-control approach. SETTING: An outpatient clinic. PARTICIPANTS: In a sample of 188 migraineurs (111 without aura and 77 with aura) and 287 migraine-free controls, 3 tagging SNPs of STX1A (rs3793243, rs941298, and rs6951030) were analyzed. A b...
Familial clustering of migraine: further evidence from a Portuguese study
Lemos, C.; Castro, M.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.Abstract OBJECTIVE: Our aim was to evaluate familial aggregation of migraine in a large group of Portuguese families, and to assess if familial aggregation differs between MA and MO. METHODS: Familial aggregation was evaluated by estimating relative risk (RR) of migraine in 143 first-degree relatives of 50 probands with MA, in 196 first-degree relatives of 94 probands with MO and also in proband's spouses. Pr...
Genomic structure, promoter activity, and developmental expression of the mouse...
Costa, Maria do Carmo; Silva, Joana Gomes da; Miranda, Carlos J.; Sequeiros, Jorge; Santos, Manuela M.; Maciel, P.Machado–Joseph disease (MJD) is a neurodegenerative disorder, caused by the expansion of the (CAG)n tract in the MJD gene. This encodes the protein ataxin-3, of unknown function. The mouse Mjd gene has a structure similar to that of its human counterpart and it also contains a TATA-less promoter. Its 5V flanking region contains conserved putative binding regions for transcription factors Sp1, USF, Arnt, Max, E4...
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