Juvenile Parkinson disease caused by parkin mutations: large deletions and pathogenic mechanisms

Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina

Electronic books

Este documento de trabalho visa apresentar o conceito de electronic book e discutir questões relacionadas com este novo género de publicação e sua aceitação pelo mercado, as vantagens, alguns desafios e principais dificuldades enfrentadas pelos produtores. Com o desenvolvimento das novas tecnologias, emergem novas expectativas em relação às potencialidades do ambiente digital ao que se verifica no meio impresso: custos reduzidos, facilitando a replicação de cópias e a quase livre e imediata distribuição de cópias no mundo inteiro através da Internet.

Marketing plan for Snack Books

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

A private library in the Mateus Palace (Vila Real). The D. Luís António de Sousa Botelho Mourão (1722-1798) Books Collection

Fundação para a Ciência e Tecnologia no âmbito de Bolsa de Doutoramento (SFRH/BD/86280/2012)

Susceptibility and prognostic factors in portuguese patients with juvenile idiopathic arthritis

ABSTRACT: Objectives: This study aimed to confirm whether 15 single nucleotide polymorphisms (SNPs) of selected genes are also associated with susceptibility for Juvenile idiopathic Arthritis (JIA) in thePortuguese population. Methods: Our study was conducted on Reuma.pt, the Rheumatic Diseases Portuguese Register, which includes patients with JIA receiving biological therapies and synthetic Disease Modifying Anti Rheumatic Drugs (DMARDs) since June 2001. Fifteen SNPs were investigated using Taqman® SNP genotyping assays in 291 Portuguese patients with JIA and 300 ethnically matched healthy controls. Results: Prior to Bonferroni correction for multiple testing, significant genotype association between one SNP and overall group of JIA was observed (PTPN22 rs2476601). In subgroup analysis, associations between six SNPs and the subgroup of patients with rheumatoid factor (RF)-positive Polyarticular (PTPN2 rs7234029), Extended oligoarticular (PTPN22 rs2476601), Systemic (PTPRC rs10919563, ANGPT1 rs7151781 and TNF rs361525) and Psoriatic JIA (IL2RA/CD25 rs2104286) were found. After Bonferroni correction for multiple testing, 3 genotype associations remained significant in the subgroup of patients with RF-positive polyarticular JIA (PTPN2 rs7234029 [corrected P 0.026]), extended oligoarticular (PTPN22 rs2476601 [corrected P 0.026]) and systemic JIA (ANGPT1 rs7151781 [corrected P 0.039]). Conclusion: Our results provide additional evidence for an association between polymorphisms in genes PTPN2, PTPN22 and ANGPT1 and the risk of RF-positive polyarticular, extended oligoarticular and systemic JIA, respectively, in a Portuguese population.

Portugal (1928-1968) : Um Filme de J. Leitão de Barros

Apoio financeiro da FCT e do FSE no âmbito do III Quadro Comunitário de Apoio