João Vasconcelos

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Machado–Joseph disease (MJD) is a late-onset neurodegenerative disorder that presents clinical heterogeneity not completely explained by its causative mutation. MJD is caused by an expansion of a CAG tract at exon 10 of the ATXN3 gene (14q32.1), which encodes for ataxin-3. The main goal of this study was to analyze the occurrence of alternative splicing at(More)
Even though the majority of abdominal aortic aneurysm s(AAAs) are asymptomatic, they can occasionally manifest as a result of adjacent structures involvement. Although the most frequent venous complication of AAA is rupture into the inferior vena cava (IVC), venous compression can infrequently occur. The authors report a particularly rare case of(More)
OBJECTIVE To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD). DESIGN We collected blood samples from 192 patients with MJD and typed the APOE polymorphism. Patients The 192 patients with MJD included 59 from the Azores, 73 from mainland Portugal, and 60 from Brazil. SETTING(More)
The Software Test Program (STP) is a cooperation between Motorola and the Center for Informatics of the Federal University of Pernambuco. It has been conceived with inspiration on the Medical Residency, adjusted to the software development practice. A Software Residency includes the formal teaching of the relevant concepts and deep practice, with(More)
BACKGROUND Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents(More)
Machado–Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)n motif within exon 10 of the ATXN3 gene, located at 14q32.1. The variance in onset of MJD is only partially correlated (∼50–80%)(More)
OBJECTIVE Machado-Joseph disease (MJD) reaches its highest prevalence world-wide in the Azores, thus constituting a public health problem in these islands. The aim of the study was thus to (1) determine the level of knowledge about the disease; (2) estimate the expected level of request for predictive testing, and (3) analyse the intentions of at-risk(More)
BACKGROUND Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation.(More)
BACKGROUND Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal). The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients(More)