10 documents found, page 1 of 1
Body composition assessment and nutritional status evaluation in men and women ...
Silva, A. Pereira; Valente, A.; Matos, A.; Gorjão Clara, J. P.; Bicho, M.; Alonso, I.Objectives: To assess body composition, nutritional status and its differences between genders in a sample of Portuguese centenarians. Design: Observational cross-sectional study. Setting: Centenarians recruited in Portugal, able to give informed consent. Participants: A total of 252 subjects, with a median age of 100 years, mostly women (77.8%) who accepted to participate in the study, during the period of 201...
Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset
Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A.OBJECTIVES: Familial amyloid polyneuropathy (FAP ATTRV30M) shows a wide variation in age-at-onset (AO) between clusters, families, and among generations. We will now explore some candidate genes involved in altered disease pathways in order to assess their role as genetic modifiers of AO, using a family-centered approach. METHODS: We analyzed 62 tagging SNPs from nine genes-NGAL,MMP-9,BGN,MEK1,MEK2,ERK1,ERK2,HS...
Body composition assessment and nutritional status evaluation in men and women ...
Silva, Alda Pereira da; Matos, A.; Valente, A.; Gil, A.; Alonso, I.; Ribeiro, R.; Bicho, M.; Clara, J. P. GorjãoOBJECTIVES: To assess body composition, nutritional status and its differences between genders in a sample of Portuguese centenarians. DESIGN: Observational cross-sectional study. SETTING: Centenarians recruited in Portugal, able to give informed consent. PARTICIPANTS: A total of 252 subjects, with a median age of 100 years, mostly women (77.8%) who accepted to participate in the study, during the period of 201...
Monozygotic twin sisters discordant for familial hemiplegic migraine
Barros, J.; Barreto, R.; Brandão, A.; Domingos, J.; Damásio, J.; Ramos, C.; Lemos, C.; Sequeiros, J.; Alonso, I.; Pereira-Monteiro, J.Background: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM). Case presentations: We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related gen...
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 wer...
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 t...
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 back...
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) (rs7...
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine ca...
Alonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeira, J.; Silveira, I.; Coutinho, P.Background: Different mutations in the 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6. Object...