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- Iron Refractory Iron Deficiency Anemia in dizygotic twins due to a novel TMPRSS6 gene mutation in addition to polymorphisms associated with high susceptibility to develop ferropenic anemiaPublication . Pinto, Joana; Nobre de Jesus, Gustavo; Palma Anselmo, Mónica; Gonçalves, Lúcia; Brás, Daniela; Madeira Lopes, João; Meneses, João; Victorino, Rui; Faustino, PaulaIron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy. After exclusion of gastrointestinal etiologies, IRIDA diagnosis was suspected and a novel mutation in the TMPRSS6 gene was identified. It was found in intron 11 (c.1396+4A>T) and seems to affect the gene expression. In addition, 3 polymorphisms already associated with a higher risk of developing iron deficiency anemia were also found (D521D, V736A, and Y739Y). Our case reports an undescribed mutation causingIRIDA and supports the hypothesis that this clinical syndrome may be more common than previously thought and its genetics more heterogeneous than initially described.
- Tuberculosis across the seas: CPLP-TB - a joint effort in cataloguing mycobacterium tuberculosis genetic diversity in the lusophone spacePublication . Perdigão, João; Silva, Carla; Diniz, Jaciara; Pereira, Catarina; Machado, Diana; Ramos, Jorge; da Silva, Fernanda; Brum, Clarice; Reis, Ana J.; Macedo, Maíra; Scaini, João L.; Silva, Ana B; Esteves, Leonardo; Macedo, Rita; Clemente, Sofia; Coelho, Elizabeth; Viegas, Sofia; Rabna, Paulo; Rodrigues, Amabélia; Taveira, Nuno; Jordao, Luisa; Couto, Isabel; von Groll, Andrea; Dalla-Costa, Elis R.; Rossetti, Maria Lúcia; da Silva, Pedro E. A.; Viveiros, Miguel; Portugal, IsabelThe Community of Portuguese Language Speaking Countries (CPLP) comprises nine countries across four continents, accounting for 7.2% of the world’s land area, and where tuberculosis (TB) is still a cause of public health concern. A marked variation in TB incidence (23 to 551 cases per 100 000 habitants) can be observed across the different member-states and, despite of this, a considerable gap in the knowledge on the Mycobacterium tuberculosis population structure and country-level geospatial distribution still exists. To address this we have gathered a comprehensive set of molecular and phenotypic drug susceptibility data on approximately 1150 different clinical isolates, from different partners, across 5 distinct portuguesespeaking countries. This initial dataset comprises molecular genotypic data obtained by either 12, 15 or 24-loci Mycobacterial Interspersed Repetitive Unit – Variable Number of Tandem repeat (MIRU-VNTR) and/or Spoligotyping. The complete dataset therefore includes M. tuberculosis clinical isolates from Portugal (n≈370), Angola (n≈80), Guinea-Bissau (n≈13), Mozambique (n≈14) and Brazil (n≈680). To make this data available to the scientific community and public health authorities we have developed CPLP-TB, an online database coupled with webbased tools that enable exploratory data analysis. This new tool specifically directed at CPLP countries include advanced data analysis capability together with graphical visualization tools (e.g. dendrogram and choropleth mapping). As a public health tool, it is expected to contribute for a deeper knowledge on the combined population structure and strain circulation between countries, thus enabling the assessment of strain specific trends in a broader macroepidemiological context. Furthermore, this new tool provides a new framework for interlaboratory cooperation on TB molecular epidemiology.
- Cooperação com os Países de Língua Portuguesa (Moçambique) - Unidade de Avaliação Externa da Qualidade do Instituto Nacional de Saúde (Portugal)Publication . Faria, Ana PaulaApresentação da Unidade de Avaliação Externa da Qualidade do Instituto Nacional de Saúde (Portugal), no âmbito da Cooperação com os Países de Língua Portuguesa (Moçambique).