Estimation of the collective dose in the Portuguese population due to medical procedures in 2010.

In a wide range of medical fields, technological advancements have led to an increase in the average collective dose in national populations worldwide. Periodic estimations of the average collective population dose due to medical exposure is, therefore of utmost importance, and is now mandatory in countries within the European Union (article 12 of EURATOM directive 97/43). Presented in this work is a report on the estimation of the collective dose in the Portuguese population due to nuclear medicine diagnostic procedures and the Top 20 diagnostic radiology examinations, which represent the 20 exams that contribute the most to the total collective dose in diagnostic radiology and interventional procedures in Europe. This work involved the collaboration of a multidisciplinary taskforce comprising representatives of all major Portuguese stakeholders (universities, research institutions, public and private healthcare providers, administrative services of the National Healthcare System, scientific and professional associations and private service providers). This allowed us to gather a comprehensive amount of data necessary for a robust estimation of the collective effective dose to the Portuguese population. The methodology used for data collection and dose estimation was based on European Commission recommendations, as this work was performed in the framework of the European wide Dose Datamed II project. This is the first study estimating the collective dose for the population in Portugal, considering such a wide national coverage and range of procedures and consisting of important baseline reference data. The taskforce intends to continue developing periodic collective dose estimations in the future. The estimated annual average effective dose for the Portuguese population was of 0.080±0.017 mSv caput(-1) for nuclear medicine exams and of 0.96±0.68 mSv caput(-1) for the Top 20 diagnostic radiology exams.

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

Maple syrup urine disease (MSUD) is an autosomal recessive disorder, caused by the defective function of the branched-chain alpha-ketoacid dehydrogenase complex (BCKD). BCKD is a mitochondrial complex, encoded by four nuclear genes (BCKDHA, BCKDHB, DBT and DLD), involved in the metabolism of branched-chain amino acids (BCAAs). Since the MSUD mutational spectrum has not been previously assessed in Portugal, in this study we present the molecular characterization of 30 MSUD Portuguese patients. Seventeen putative mutations have been identified (six in BCKDHA, five in BCKDHB and six in DBT); seven of them are here described for the first time. The most common mutation identified was a C deletion in BCKDHA gene (c.117delC; p.R40GfsX23), already reported in the Spanish population. Interestingly, it was found in all patients of a Gypsy community from South of the country, so a founder effect is probably responsible for the high incidence of the disease in this community. Structural models of MSUD missense mutations have been performed to understand their pathogenic effect, in order to elucidate and often to predict the severity of a mutation clinical consequence.