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

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

Analysing and visualising areal crime data. A case study of residential burglary in San Francisco, USA

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

Caso Sério: Elaboração de uma colecção literária de crime real

Trabalho de Projecto apresentado para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Edição de Texto

Spatial analysis of crime evolution in Portugal between 1995 and 2013

The main objective of this survey was to perform descriptive analysis of crime evolution in Portugal between 1995 and 2013. The main focus of this survey was to analyse spatial crime evolution patterns in Portuguese NUTS III regions. Most important crime types have been included into analysis. The main idea was to uncover relation between local patterns and global crime evolution; to define regions which have contributed to global crime evolution of some specific crime types and to define how they have contributed. There were many statistical reports and scientific papers which have analysed some particular crime types, but one global spatial-temporal analysis has not been found. Principal Component Analysis and multidimensional descriptive data analysis technique STATIS have been the base of the analysis. The results of this survey has shown that strong spatial and temporal crime patterns exist. It was possible to describe global crime evolution patterns and to define crime evolution patterns in NUTS III regions. It was possible to define three to four groups of crimes where each group shows similar spatial crime dynamics.

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.