Resumo Objetivo Avaliar o potencial melhor resultado funcional e controle álgico no tratamento de fraturas patológicas e fixações profiláticas tratadas com haste intramedular associada ao polimetilmetacrilato (PMMA) em comparação com o uso de haste intramedular em lesões tumorais em ossos longos. Métodos De janeiro de 2012 a setembro de 2017, 38 pacientes com 42 lesões patológicas (fraturas ou iminência segundo os critérios de Mirels) foram tratados cirurgicamente. Dezesseis pacientes submetidos a fixação com haste intramedular bloqueada foram alocados ao grupo controle e 22 pacientes com lesões patológicas foram alocados para tratamento com haste intramedular associada ao PMMA. No pósoperatório, foi realizada a submissão dos pacientes ao escore da Musculoskeletal Tumor Society (MSTS, na sigla em inglês) e à avaliação radiográfica do tratamento realizado, assim como à avaliação de intercorrências e complicações relacionadas ao tratamento. Resultados A avaliação através do questionário MSTS demonstrou melhor resultado funcional do grupo associado com PMMA quando comparado com o grupo controle, o qual obteve uma pontuação média de 16,375 em um máximo de 30 pontos (54,6%), enquanto o grupo em estudo com associação do PMMA obteve uma média de 22,36 pontos (74,5%). O procedimento mostrou-se seguro, taxas de complicações e gravidade semelhantes e sem diferença estatística quando comparado com o tratamento padrão. Conclusão A estabilização de lesões tumorais com fixação associada ao PMMA demonstrou reabilitação precoce e melhora na qualidade de vida, permitindo rápida recuperação funcional. A utilização do PMMA apresenta vantagens como diminuição do sangramento e da necrose tumoral e maior estabilidade mecânica.

Abstract Objective To evaluate the better potential and functional results in pain control in the treatment of pathological fractures and prophylactic fixation with an intramedullary nail associated with polymethylmethacrylate, compared with the utilization of an intramedullary nail in long bone tumor lesions. Methods From January 2012 to September 2017, 38 patients with 42 pathological lesions (fractures or impending fractures according to the Mirels criteria) were treated surgically. Sixteen patients allocated to the control group underwent a locked intramedullary nail fixation, and 22 patients with pathological lesions were allocated to treatment with an intramedullary nail associated with polymethylmethacrylate. Postoperatively, the patients were submitted to the Musculoskeletal Tumor Society (MSTS) rating scale, radiographic assessment, and to the assessment of events and complications related to the treatment. Results The evaluation using the MSTS questionnaire showed better functional results in the group associated with polymethylmethacrylate, in comparison with the control group, which obtained an average score of 16.375 out of a maximum of 30 points (54.6%). The group studied with association with polymethylmethacrylate obtained a mean of 22.36 points (74.5%). The procedure proved to be safe, with similar complication and severity rates, and with no statistical difference in comparison with the standard treatment. Conclusion Stabilization of tumor lesions with an internal fixation associated with the polymethylmethacrylate demonstrated early rehabilitation and improved the quality of life, allowing rapid functional recovery. The use of polymethylmethacrylate has advantages such as reduced bleeding, tumor necrosis and higher mechanical stability.

Abstract Background: Inflammation is a major component of the response to tissue injury caused by myocardial infarction. High-sensitivity C-reactive protein (hs-CRP) levels might be a simple marker of the severity of this inflammatory response, providing prognostic information. Objective: To associate hs-CRP level on admission and other clinical characteristics with in-hospital mortality of patients with acute ST-segment elevation myocardial infarction (STEMI). Methods: A retrospective cohort study of patients admitted with STEMI was carried out. Patients were analyzed regarding clinical characteristics, reperfusion therapy, hs-CRP on admission and outcomes. Continuous variables were analyzed by non-parametric Mann-Whitney U test and categorical variables by chi-square test. A p value of < 0.05 was considered statistically significant. Results: Of the 118 patients analyzed, 20 died during hospitalization. Higher levels of hs-CRP (p = 0.001) and older ages (p = 0.003) were observed among those patients who died. Logistic regression showed that a one unit increase in hs-CRP increased the risk of death by 15% (p = 0.0017), after adjustment for established risk factors. Similarly, each one-year increase in age increases the risk of death by 6.6% (p = 0.003). Conclusion: Our results demonstrate a strong association between hs-CRP obtained on admission and in-hospital mortality after STEMI. It suggests that hs-CRP can be a marker of inflammatory response to myocardial ischemia, providing prognostic information regarding the risk of death.

RESUMO Introdução: A pseudoporfiria é uma fotodermatose rara com características semelhantes às da porfiria cutânea tardia, sem, no entanto, apresentar anormalidades no metabolismo da porfirina. Sua etiologia está relacionada a doença renal crônica, radiação ultravioleta e determinados medicamentos. O objetivo do presente trabalho é descrever um caso de pseudoporfiria relacionada a furosemida em paciente portador de doença renal crônica. Descrição do caso: Paciente masculino, 76 anos, com doença renal crônica estágio 4 e em uso contínuo de furosemida, apresentou lesões ulceradas com eritema periférico e crosta hemática central nas pernas. Por suspeita de infecção de pele, foi iniciado tratamento com quinolona e sulfato de neomicina, sem melhora. Foi realizada então biópsia da lesão, com exame histopatológico demonstrando achados compatíveis com porfiria, sem, no entanto, o paciente apresentar níveis elevados de porfirinas. Foi então estabelecido o diagnóstico de pseudoporfiria induzida por furosemida, com suspensão de medicação , e houve melhora significativa das lesões. Discussão: Há poucos casos de pseudoporfiria descritos, mas acredita-se que essa condição seja subdiagnosticada, principalmente em pacientes com doença renal crônica. Tanto achados clínicos quanto histopatológicos se assemelham muito à porfiria, diferenciando desta por níveis normais de porfirina no plasma, na urina ou nas fezes. Conclusões: Embora as lesões sejam majoritariamente benignas, podem aumentar a morbimortalidade desses pacientes, por isso um diagnóstico adequado e tratamento precoce são de extrema importância.

ABSTRACT Introduction: Pseudoporphyria is a rare photodermatosis with characteristics similar to those of porphyria cutanea tarda, without, however, presenting abnormalities in porphyrin metabolism. Its etiology is related to chronic kidney disease, ultraviolet radiation and certain medications. The aim of the present study is to describe a case of furosemide-related pseudoporphyria in a patient with chronic kidney disease. Case description: A 76-year-old male patient with stage 4 chronic kidney disease and in continuous use of furosemide presented ulcerated lesions with peripheral erythema and central hematic crust in the legs. On a skin infection suspicion, treatment with quinolone and neomycin sulfate was initiated, without improvement. A biopsy of the lesion was performed, with histopathological examination demonstrating findings compatible with porphyria, although the patient did not present high porphyrin levels. The diagnosis of furosemide-induced pseudoporphyria was then established, with medication suspension, and there was a significant improvement of the lesions. Discussion: There are few cases of pseudoporphyria described, but it is believed that this condition is underdiagnosed, especially in patients with chronic kidney disease. Both clinical and histopathological findings closely resemble porphyria, differentiating it from normal levels of porphyrin in plasma, urine, or feces. Conclusions: Although the lesions are mostly benign, they may increase the morbidity and mortality of these patients, so a proper diagnosis and early treatment are extremely important.

RESUMO A doença relacionada ao MYH9 é um distúrbio autossômico dominante causado por mutações no gene MYH9 que codifica a cadeia pesada da miosina não muscular IIA no cromossomo 22q12. Ela é caracterizada por macrotrombocitopenia congênita, tendência a sangramento, perda auditiva e catarata. A nefropatia ocorre em aproximadamente 30% dos pacientes. O presente artigo relata o caso de um paciente com doença relacionada ao MYH9 portador de mutação missense de novo no exon 1 do gene MYH9 [c.287C > T; p.Ser(TCG)96(TTG)Leu]. Com a exceção de catarata, o paciente apresentou todas as manifestações fenotípicas da doença. As alterações renais incluíram micro-hematúria, proteinúria nefrótica (até 7,5 g/24h) e perda rápida da função renal. O declínio anual da taxa de filtração glomerular foi de 20 mL/min/1,73 m2 durante cinco anos. Foi receitado bloqueio do sistema renina-angiotensina, a única terapia recomendada para retardar a progressão dessa nefropatia. Embora a doença relacionada ao MYH9 seja uma causa rara de glomerulopatia e doença renal terminal, a conscientização sobre distúrbios genéticos renais raros é essencial para garantir o diagnóstico preciso e o manejo adequado dos pacientes com tal doença órfã.

ABSTRACT MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.