Bernard Soulier syndrome is a rare, congenital platelet bleeding disorder, with autosomal recessive inheritance. It is characterised by macrothrombocytopenia and platelet dysfunction, leading to mucocutaneous bleeding noted in early childhood. This entity poses an important diagnostic challenge, and blood smear and DNA sequencing are paramount for the correct diagnosis. Differential diagnosis includes May-Hegglin anomaly, Glanzmann Thrombasthenia and von Willebrand disease; it is also often misdiagnosed as idiopathic thrombocytopenic purpura. We report a 68-year-old man diagnosed with von Willebrand disease for three decades, admitted with gastrointestinal bleeding, anaemia and severe thrombocytopenia. Replacement with von Willebrand factor did not stop the haemorrhage, suggesting another aetiology for the bleeding disorder. Corticosteroids and intravenous immune globulin were also ineffective. Genetic sequencing showed a homozygous mutation in GP1BA gene, thus establishing the correct diagnosis.

The visual impairment that often leads to blindness causes a higher morbidity rate. The goal of this work is to create a novel biodegradable polymeric implant obtained from coaxial fibers containing the dispersed drug—acetazolamide—in order to achieve sustained drug release and increase patient compliance, which is of the highest importance. Firstly, during this work, uncoated implants were produced by electrospinning, and rolled in the shape of small cylinders that were composed of uniaxial and coaxial fibers with immobilized drug inside. The fibers were composed by PCL (poly ε-caprolactone) and Lutrol F127 (poly (oxyethylene-b-oxypropylene-b-oxyethylene)). The prepared implants exhibited a fast rate of drug release, which led to the preparation of new implants incorporating the same formulation but with an additional coating film prepared by solvent casting and comprising PCL and Lutrol F127 or PCL and Luwax EVA 3 ((poly (ethylene-co-vinyl acetate)). Implants were characterized and in vitro release profiles of acetazolamide were obtained in phosphate buffered saline (PBS) at 37 °C. The release profile of the acetazolamide from coated implant containing Luwax EVA 3 is considerably slower than what was observed in case of coated implants containing Lutrol F127, allowing a sustained release and an innovation relatively to other ocular drug delivery systems.

<p>Objetivo: analisar a trajetória de sujeitos adictos, procurando compreender de que forma percebem o seu percurso no mundo das drogas, tomando por referência central as perceções, representações e significados que atribuem à<br />droga e ao sentido da sua própria vida, antes, durante e após as vivências de adição. Método: pesquisa qualitativa, com base na Teoria Fundamentada nos Dados. Foram entrevistados oito sujeitos internados numa Comunidade<br />Terapêutica de toxicodependência em Portugal, entre os meses de setembro e dezembro de 2016. Resultados: obtiveram-se três grupos de categorias principais: “Evolução do padrão de consumo”, “Trajetória comportamental<br />durante os consumos”, e “Transformação identitária”; uma categoria intermédia “Alteração dos valores morais e sociais; e a categoria nuclear “Identidade adicta”. Conclusão: os sujeitos compreendem a trajetória adicta como um<br />conjunto de mudanças progressivas na sua identidade, fortemente associadas a alterações dos valores morais e sociais. Referem-se à droga como a sua autodestruição, expressando culpa e arrependimento.</p><p><br />Descritores: Adição. Droga. Trajetória de Vida. Identidade. Teoria Fundamentada nos Dados.</p>