BACKGROUND AND PURPOSE: The Medical Physics Division of the Portuguese Physics Society (DFM_SPF) in collaboration with the IAEA, carried out a national auditing project in radiotherapy, between September 2011 and April 2012. The objective of this audit was to ensure the optimal usage of treatment planning systems. The national results are presented in this paper. MATERIAL AND METHODS: The audit methodology simu...
A Unidade de Nefrologia do Serviço de Pediatria do Hospital de Santa Maria, diferenciada desde 1975, iniciou o seu programa de transplantação renal pediátrica em Setembro de 1995, Propomo-nos analisar a actividade desenvolvida em termos de movimento» resultados, evolução e complicações, e ponderar alguns aspectos relevantes de um programa nacional de transplantação renal pediátrico, com o objectivo de optimiza...
BACKGROUND AND PURPOSE: The Medical Physics Division of the Portuguese Physics Society (DFM_SPF) in collaboration with the IAEA, carried out a national auditing project in radiotherapy, between September 2011 and April 2012. The objective of this audit was to ensure the optimal usage of treatment planning systems. The national results are presented in this paper. MATERIAL AND METHODS: The audit methodology simu...
BACKGROUND AND PURPOSE: The Medical Physics Division of the Portuguese Physics Society (DFM_SPF) in collaboration with the IAEA, carried out a national auditing project in radiotherapy, between September 2011 and April 2012. The objective of this audit was to ensure the optimal usage of treatment planning systems. The national results are presented in this paper. MATERIAL AND METHODS: The audit methodology simu...
A paralisia periódica tireotóxica (PPT) é caracterizada por episódios recorrentes de fraqueza muscular e hipocaliémia associados a hiperactividade tiroideia. Descrita maioritariamente em indivíduos de origem asiática, a PPT é, na população ocidental, uma manifestação rara de hipertiroidismo. É descrito um caso típico de PPT num homem português de 33 anos, observado por tetraparésia aguda associada a hipokaliémi...
Huntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic t...
BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood. OBJECTIVE: To examine the...
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