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Hemophilia B is a coagulation disorder characterized by a deficiency of clotting factor IX. Women are often heterozygous carriers of the disease, however if their clotting factor levels are less than 60%, they may have an increased bleeding tendency. This is even higher if levels are under 40%. We present a case of a 14-year-old female, with mild hemophilia B (hemophilia B carrier with factor IX level < 40%) wh...
A presente investigação foi desenvolvida com vista a melhorar a compreensão sobre os aspetos do desenvolvimento socioemocional e sobre o conceito SEL (Social emotional learning) - Aprendizagem socioemocional, em crianças em idade Pré-Escolar. Também de algum modo contribuir para a melhoria das estratégias e práticas pedagógicas ajustadas, utilizadas pelas educadoras de infância no que diz respeito às emoções, à...
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia usually unresponsive to oral iron intake and partially responsive to parenteral iron treatment. This disease is the result of mutations in TMPRSS6 gene, encoding Matriptase-2, a transmembrane serine protease that plays a key role in down-regulating hepcidin, allowing iron bioavailability for erythropoiesis. Once TMPRSS6 is mutat...
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. The disease originates from mutations in TMPRSS6 gene, encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin. Once TMPRSS6 is mutated, the corresponding protein is absent or inac...
Mental nerve neuropathy is a peripheral sensory neuropathy, characterized by acute numbness of the chin area. It is a rare entity with diverse aetiology including, among others, local odontogenic causes and malignancy. In rare cases, it might be associated with sickle cell disease, due to the combined presence of hyperviscosity and the sinuous course of the mental nerve and artery through the mental foramen. Th...