Background. PAPA syndrome (MIM #604416) is a rare monogenic autoinflammatory disease genetically transmitted in an autosomal dominant trait that results from missense mutations in the proline-serine-threonine phosphatase-interactive protein 1 (PSTPIP1) gene located on chromosome 15 and is characterized by sterile pyogenic arthritis, pyoderma gangrenosum, and cystic acne. We describe the clinical and molecular findings of two related Brazilian patients with PAPA syndrome. Case Presentation. A 7-year-and-3-month-old boy with nonconsanguineous parents had had recurrent pyoarthritis since the age of 5 years and 8 months. During his last and long hospitalization, the lack of improvement with antibiotics, evidence of increased inflammatory activity, repeated arthrotomies, draining purulent fluid that had negative cultures, and the history of trauma, all on in a clinical background of pyoarthritis, led to the suspicion of an autoinflammatory syndrome. This was confirmed by the good clinical response to corticotherapy. Genetic sequencing confirmed the diagnosis of PAPA syndrome, with the pathogenic mutation c.688 G > A (p. Ala230Thr) in the PSTPIP1 gene present in the patient and in the mother. Conclusions. This case illustrates that in children with recurrent/recalcitrant sterile recurrent pyogenic arthritis/osteomyelitis, the possibility of an underlying immunological condition should be considered. In both, recurrent infections or recurrent inflammation, many genes involved in the inborn errors of immunity can be associated, and a correct and precocious diagnosis is necessary to avoid mobility and mortality. To the best of our knowledge, this is the first report of PAPA syndrome in Brazil.
Os acidentes de trânsito são considerados uma das principais causa de mortalidade e morbidade no Brasil, além de um problema de saúde pública crescente afetando em grande proporção tantos os homens quanto às mulheres. Tal fato provoca impactos emocionais, econômico, sociais e clínicos que afetam a saúde das vítimas. Portanto, o propósito deste estudo foi revisar a literatura sobre a situação das vítimas de acidente de trânsito em Cuiabá -MT, bem como a assistência, recuperação e o impacto psicossocial residual. Foi realizado um levantamento bibliográfico entre o período de 2006 a 2018 nas fontes do Ministério da Saúde, biblioteca virtual da Scielo, Sociedade Brasileira de Ortopedia e Traumatologia e DATASUS. Foram encontrados 150 artigos, que após leitura dos títulos e resumos somente 12 abordavam o tema satisfatoriamente. Foi observado que os acidentes motociclísticos fazem mais vítimas de acidente de trânsito, assim como são frequentes lesões e sequelas decorrentes do acidente. É mais comum mulheres jovens se acidentarem na faixa etária dos 20 anos e nos homens na idade entre 30 a 40 anos. Mais estudos e investimentos devem ser estimulados sobre o tema, principalmente no tocante aos possíveis impactos nas relações sociais, nas atividades básicas de vida diária e consequências psicoemocionais, especialmente em Cuiabá -MT.
Objective: The aim of this study was to assess the prevalence of malnutrition and sarcopenia in elderly patients with low-energy femur fractures. Method: A cross-sectional observational study performed in two public hospitals in Cuiaba-Brazil. Physical examination data were collected from all patients within the first 24 hours after admission. The collection period lasted from May to October 2017. All cases were assessed by SARC-F questionnaire and the nutritional mini-evaluation (NMA). We performed a descriptive and epidemiological analysis for the prevalence of malnutrition and sarcopenia among the patients.Results: One hundred thirty two patients were analyzed, 58.3% males with mean age of 73.6 (ranging from 60-97) years old. Only 19.7% (26) of the patients were considered eutrophic and by the SARC-F questionnaire, 64.4% (85) of the studied population was considered as sarcopenics. Conclusion:The prevalence of malnutrition and sarcopenia is high in elderly patients with a low-energy femur fracture.
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