Percorrer por autor "Andrade, Catarina"
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- Animação em sinalização de segurança digitalPublication . Andrade, Catarina; Duarte, Emília; Garcia, ManuelO presente projeto está inserido na área do Design e Cultura Visual, do Design de Multimédia e também na área da Ergonomia, mais especificamente no Design de Avisos de Segurança. Surgiu da necessidade de criar alternativas viáveis para a comunicação de mensagens de aviso, capazes de captar, com maior eficácia, a atenção do utilizador. O estudo, em concreto, foi realizado com o objetivo de alertar os utilizadores do metropolitano, para o perigo de ultrapassar a linha amarela existente no cais. Através do mesmo, concluiu-se que a comunicação de mensagens de segurança, através de avisos digitais, tendo como base a animação, é uma opção eficaz na transmissão de informação de segurança nas estações metropolitanas. Este tipo de avisos destaca-se quer pelo dinamismo, quer pelo maior impacto visual. Através desta investigação, procurou-se compreender a importância da animação, através da análise de conceitos e da forma como esta área se desenvolveu. Na fase experimental, em laboratório, foram desenvolvidas e testadas soluções com o contributo dos utilizadores. Para avaliar o impacto produzido pela animação recorreu-se à realização de questionários e ao uso de Eye-Tracker. Através dos dados obtidos foram desenvolvidas soluções, posteriormente testadas em laboratório, quanto à compreensão, adequação, motivação e legibilidade, entre outros aspetos. Os resultados obtidos sugerem o sucesso das animações digitais na captação de uma mensagem de aviso, mostrando-se eficazes na prevenção de comportamentos de risco.
- Case report : hypomorphic ligase 4 deficiency – a paradigm of immunodysregulationPublication . Andrade, Catarina; Cordeiro, Ana Isabel; Pinto, Marta Valente; Neves, Conceição; Martins, Catarina; Villartay, Jean-Pierre; Neves, João FarelaDNA Ligase 4 is critical to nonhomologous end joining, necessary for V(D)J recombination in T and B cell development. Ligase 4 deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA Ligase 4 gene, that can lead to a wide range of phenotypes. We describe a case of Ligase 4 deficiency causing a type of T-B-NK+ atypical SCID, highlighting the clinical and immunologic manifestations. An eight-year-old female, from São Nicolau Island (Cape Verde), presented at our hospital with a history of recurrent pneumonia and suppurative otitis, multiple skin lesions attributed to fungal and bacterial infections since the age of two, and recurrent diarrhea and growth impairment, beginning at the age of four. The laboratory workup showed almost absent B cells, marked hypogammaglobulinemia, and an impaired response to protein antigens. Flow cytometry revealed normal NK and T cell counts, but with nearly absent naïve T cells and TCR-Va7 expressing T lymphocytes, and reduced proliferative responses to mitogens and antigens. An oligoclonal Vβ repertoire was identified by FACS, and PROMIDISa analysis revealed a skewed TCRa repertoire signature. A 477 PID-related genes NGS panel identified a homozygous R278H mutation in the DNA Ligase 4 gene, previously reported to cause Ligase 4 deficiency. Immunoglobulin replacement and prophylactic therapies were started while waiting for hematopoietic stem cell transplantation. She has experienced fluctuating transaminase levels. The cutaneous biopsy was suggestive of lupus pernio. She has shown recurrent inflammatory signs in her limbs, with documented tenosynovitis on ultrasound. Homozygous R278H in Ligase 4 has been linked to various ranges of manifestations in Ligase 4 deficient patients. In our report, this genotype resulted in T-B-NK+ atypical SCID, that after proper prophylaxis has a predominant autoimmune phenotype.
- Post-varicella vaccination uveitis in a child with nephrotic syndrome receiving immunosuppressive treatment : a case reportPublication . Andrade, Catarina; Cordeiro, Miguel de Almeida; Baptista, Rute Baeta; Nunes, Beatriz Sousa; Garcia, Ana Margarida; Silva, Tiago Milheiro; Pinto, Marta ValentePatients with nephrotic syndrome are at heightened risk of infections due to the underlying disease pathophysiology and the effects of immunosuppressive therapies. Varicella-zoster virus (VZV) infection can cause severe complications in immunocompromised individuals. Concerns about the safety of live attenuated vaccines in this population persist. Emerging vaccination strategies incorporate pre-vaccination risk stratification algorithms based on immunological criteria. We present a case of a five-year-old male with corticosteroid-dependent nephrotic syndrome, in complete remission on mycophenolate mofetil therapy, who received the varicella vaccine after meeting immunocompetence criteria. Fourteen days post-vaccination, he developed scant vesicular lesions, with VZV DNA detected by PCR via swab. By day 16 post-vaccination, he presented with left-eye panuveitis. VZV DNA was also detected in the blood by PCR. Differentiation of VZV vaccine strains from wild-type strains was not possible. Additionally, molecular testing for VZV in the aqueous humor was not performed. However, given the temporal association with varicella vaccination, the detection of VZV in the blood and cutaneous lesions, and most importantly, the immunosuppression of the patient, post-vaccination ocular varicella was assumed even without an epidemiological history of varicella exposure. This case highlights the importance of a thorough immunocompetence assessment before administering live vaccines to immunosuppressed patients, as well as close post-vaccine monitoring and a high index of suspicion for complications to optimize vaccine safety in this vulnerable group. Patients with nephrotic syndrome require vaccination strategies tailored to their individual risk.