Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.

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.

Decompressive craniectomy versus conservative treatment: limits and possibilities in malignant stroke.

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.

Decompressive craniectomy versus conservative treatment: limits and possibilities in malignant stroke / Craniectomia descompressiva versus tratamento conservador: limites e possibilidades no AVC maligno

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.

RESUMO Introdução: O infarto maligno da artéria cerebral média (ACM) ocorre em um subgrupo de pacientes com acidente vascular cerebral (AVC) isquêmico e a craniectomia descompressiva (CD) precoce é um de seus tratamentos. Objetivo: Investigar o desfecho funcional de pacientes com acidente vascular cerebral isquêmico maligno submetidos à craniectomia descompressiva em um centro de emergência neurológica do nordeste do Brasil. Métodos: Nesta coorte prospectiva, os pacientes foram divididos em dois grupos: aqueles submetidos a tratamento cirúrgico com craniectomia descompressiva (CD) e aqueles que mantiveram tratamento conservador (TC) padrão. A funcionalidade foi avaliada por meio da Escala de Rankin modificada (ERm) ao final de seis meses de seguimento. Resultados: Evidenciou-se desfecho favorável (ERm≤3) em 37,5% dos pacientes craniectomizados e em 29,4% dos pacientes não craniectomizados (p=0,42). A mortalidade foi menor no grupo de pacientes que se submeteram a tratamento cirúrgico (25%) do que entre aqueles tratados conservadoramente (52,8%), porém sem significância estatística. Por outro lado, a proporção de pacientes com incapacidade moderada a grave (ERm 4‒5) foi maior no grupo cirúrgico (37,5%) do que no grupo não cirúrgico (17,7%). Conclusão: Em valores absolutos, percebeu-se superioridade na eficácia do tratamento cirúrgico sobre o conservador, mostrando que a redução de mortalidade se dá à custa de aumento da incapacidade funcional.

Protocolos assistenciais para a redução de mortalidade por Sepse: revisão integrativa / Assistance protocols for reducing sepsis mortality: integrative review / Protocolos asistenciales para lareducción de mortalidad por sepse: revisión integrativa

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.(AU)

Objective: To identify in the scientific literature whether the use of care protocols for identification and early treatment of sepsis reduces mortality in hospital institutions. Method: integrative review conducted through the following databases: SCOPUS, CINAHL, LILACS and Medline with final sample of 27 articles. Results: Although a variety of protocols are in place, most studies (n = 16) support one another, suggesting that care protocols for early identification and treatment of sepsis and septic shock reduce mortality. Conclusion: Results suggest that protocols decrease mortality. of patients with sepsis and septic shock.(AU)

Objetivo: identificar en la literatura científica si el uso de protocolos de atención para la identificación y el tratamiento temprano de la sepsis reduce la mortalidad en las instituciones hospitalarias. Método: revisión integradora realizada a través de las siguientes bases de datos: SCOPUS, CINAHL, LILACS y Medline con muestra final de 27 artículos. Resultados: aunque existen varios protocolos, la mayoría de los estudios (n = 16) se apoyan entre sí, lo que sugiere que los protocolos de atención para la identificación temprana y el tratamiento de la sepsis y el shock séptico reducen la mortalidad. Conclusión: Los resultados sugieren que los protocolos disminuyen la mortalidad. de pacientes con sepsis y shock séptico.(AU)