Objetivo: identificar na literatura científica se o uso de protocolos assistenciais de identificação e tratamento precoce da sepse reduz a mortalidade em instituições hospitalares. Método: revisão integrativa realizada por meio das seguintes base de dados: SCOPUS, CINAHL, LILACS e Medline com amostra final de 27 artigos. Resultados: embora havendo uma variedade de protocolos implementados, a maioria dos estudos (n=16) corroboram entre si, sugerindo que os protocolos assistenciais para identificação e tratamento precoce de sepse e choque séptico reduzem mortalidade.Conclusão: os resultados sugerem que protocolos diminuem mortalidade de pacientes com sepse e choque séptico.
Background:
Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy of proximal predominance in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case associated with pathogenic mutations on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen’s congenital myotonia.
Case presentation:
We describe a patient with chronic proximal myopathy, very subtle clinical myotonia and electrical myotonia on electromyography (EMG). Serum laboratory analysis disclosure hyperCKemia (CK 1280 mg/dL). A blood smear analysis showed Jordan’s anomaly, a hallmark of NLSD-M. A genetic panel was collected using the NGS technique, which identified two pathogenic variants on genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia, whose association has not been previously described.
Conclusions:
Although uncommon, it is important to remember the possibility of association of pathogenic mutations to explain a specific neuromuscular disease phenotype. The use of a range complementary methods, including myopathy genetic panels, may be essential to diagnostic definition in such cases.
Background
Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen’s congenital myotonia.
Case presentation
We describe a patient with chronic proximal myopathy, subtle clinical myotonia and electrical myotonia on electromyography (EMG). Serum laboratory analysis disclosure hyperCKemia (CK 1280 mg/dL). A blood smear analysis showed Jordan’s anomaly, a hallmark of NLSD-M. A genetic panel was collected using next-generation sequencing (NGS) technique, which identified two pathogenic variants on genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia, whose association has not been previously described.
Conclusions
Although uncommon, it is important to remember the possibility of association of pathogenic variants to explain a specific neuromuscular disease phenotype. The use of a range of complementary methods, including myopathy genetic panels, may be essential to diagnostic definition in such cases.
Ca ptur 1A. Ataxia sensitiva estava presente em 51,9% dos indivíduos com PIDC e ausente em 85,7% dos pacientes do grupo CMT 1A, com significância estatística. Através da a curva ROC, estabelecemos um ponto discriminativo de valor de onda F capaz de diferenciar PIDC de CMT 1A. Assim, para os nervos mediano (S=100% e E=75%) e ulnar (S=92,3% e E=77,3%), respectivamente, valor de latência mínima de Onda F superior a 44,9 ms e 57,7 ms favoreceram o diagnóstico de CMT 1A. Palavras-chave: Polirradiculoneuropatia inflamatória desmielinizante crônica; Doença de Charcot-Marie-Tooth; Onda F
ABSTRACT Background: Malignant infarction of the middle cerebral artery (MCA) occurs in a subgroup of patients with ischemic stroke and early decompressive craniectomy (DC) is one of its treatments. Objective: To investigate the functional outcome of patients with malignant ischemic stroke treated with decompressive craniectomy at a neurological emergency center in Northeastern Brazil. Methods: Prospective cohort study, in which 25 patients were divided into two groups: those undergoing surgical treatment with DC and those who continued to receive standard conservative treatment (CT). Functionality was assessed using the modified Rankin Scale (mRS), at follow-up after six months. Results: A favorable outcome (mRS≤3) was observed in 37.5% of the DC patients and 29.4% of CT patients (p=0.42). Fewer patients who underwent surgical treatment died (25%), compared to those treated conservatively (52.8%); however, with no statistical significance. Nonetheless, the proportion of patients with moderate to severe disability (mRS 4‒5) was higher in the surgical group (37.5%) than in the non-surgical group (17.7%). Conclusion: In absolute values, superiority in the effectiveness of DC over CT was perceived, showing that the reduction in mortality was at the expense of increased disability.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.