Objective:To analyze the clinical characteristics and treatment outcomes of children with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) antibody-mediated necrotizing myopathy, and to explore early identification and management strategies to provide reference for clinical diagnosis and treatment.Methods:A retrospective analysis was conducted on the clinical data and treatment outcomes of 10 pediatric patients with anti-HMGCR antibody-mediated necrotizing myopathy admitted to the Department of Rheumatology, Children′s Hospital of Fudan University from December 2020 to December 2024. Statistical description was performed using SPSS 22.0.Results:Among the 10 patients, the male-to-female ratio was 1:4, the age of onset was (7.2±4.0) years, and the disease duration at diagnosis was (22.2±19.6) months. None had a history of statin exposure. Six patients presented with muscle weakness, and4 were diagnosed due to asymptomatic elevation of creatine kinase (CK); 4 had dermatomyositis-like rashes. All patients showed significantly elevated CK levels [median 3 291(1 969, 8 776)U/L] and underwent muscle biopsy. Histopathological findings revealed myofiber degeneration, necrosis, and regeneration in all cases, with inflammatory infiltration in 9 cases, MHC-Ⅰ positivity in all, and C5b-9 positivity in 9 cases. The median follow-up duration was (15.7±6.3) months. At the last follow-up, muscle strength was normal or nearly normal, and the CK median value had decreased to 977.5 (211.0, 3 536.0) U/L.Conclusion:For patients with suspected idiopathic inflammatory myopathy and significantly elevated CK, muscle-specific antibody testing-including anti-HMGCR-and muscle biopsy should be performed promptly regardless of the presence of skin rash, to ensure accurate diagnosis and guide treatment, thereby avoiding misdiagnosis or missed diagnosis.

Background and Aims:Coactivator-associated arginine methyltransferase 1(CARM1)is involved in the regulation of RNA and protein processing.Recent studies have revealed its crucial role in tumorigenesis and cancer progression.However,the correlation between CARM1 expression,pan-cancer prognosis,and the immune microenvironment remains unclear.This study was conducted to investigate the relationship between CARM1 expression and pan-cancer prognosis,immune microenvironment,and its potential biological mechanisms using bioinformatics approaches.Methods:Using the TCGA,GTEx,and HPA databases,the expression pattern of CARM1 in various cancers and its prognostic relevance were analyzed.The correlation between CARM1 expression and the tumor microenvironment,as well as immune checkpoint genes,were analyzed using TCGA data.The PPI network of CARM1-interacting genes was constructed using the STRING database.GSEA was performed to investigate the potential biological mechanisms of CARM1 in pan-cancer.Results:Compared to normal tissues,CARM1 was upregulated in most tumor tissues,and its expression was associated with prognosis in multiple cancers.CARM1 expression was correlated with immune cell infiltration and immune checkpoint gene expression.Enrichment analysis suggested that CARM1 might alter the biological function of urinary system tumors by affecting ribosome biogenesis.Additionally,it may influence the biological functions of digestive system tumors by modulating arginine biosynthesis,DNA replication,and the cell cycle.Conclusion:CARM1 is aberrantly expressed in tumor tissues and may serve as a prognostic biomarker for multiple cancers.It is associated with the tumor microenvironment and immune checkpoint gene expression in pan-cancer and may contribute to tumorigenesis through multiple biological pathways,making it a potential therapeutic target for pan-cancer treatment.

Background and Aims:Coactivator-associated arginine methyltransferase 1(CARM1)is involved in the regulation of RNA and protein processing.Recent studies have revealed its crucial role in tumorigenesis and cancer progression.However,the correlation between CARM1 expression,pan-cancer prognosis,and the immune microenvironment remains unclear.This study was conducted to investigate the relationship between CARM1 expression and pan-cancer prognosis,immune microenvironment,and its potential biological mechanisms using bioinformatics approaches.Methods:Using the TCGA,GTEx,and HPA databases,the expression pattern of CARM1 in various cancers and its prognostic relevance were analyzed.The correlation between CARM1 expression and the tumor microenvironment,as well as immune checkpoint genes,were analyzed using TCGA data.The PPI network of CARM1-interacting genes was constructed using the STRING database.GSEA was performed to investigate the potential biological mechanisms of CARM1 in pan-cancer.Results:Compared to normal tissues,CARM1 was upregulated in most tumor tissues,and its expression was associated with prognosis in multiple cancers.CARM1 expression was correlated with immune cell infiltration and immune checkpoint gene expression.Enrichment analysis suggested that CARM1 might alter the biological function of urinary system tumors by affecting ribosome biogenesis.Additionally,it may influence the biological functions of digestive system tumors by modulating arginine biosynthesis,DNA replication,and the cell cycle.Conclusion:CARM1 is aberrantly expressed in tumor tissues and may serve as a prognostic biomarker for multiple cancers.It is associated with the tumor microenvironment and immune checkpoint gene expression in pan-cancer and may contribute to tumorigenesis through multiple biological pathways,making it a potential therapeutic target for pan-cancer treatment.

Objective:To analyze the clinical characteristics and treatment outcomes of children with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) antibody-mediated necrotizing myopathy, and to explore early identification and management strategies to provide reference for clinical diagnosis and treatment.Methods:A retrospective analysis was conducted on the clinical data and treatment outcomes of 10 pediatric patients with anti-HMGCR antibody-mediated necrotizing myopathy admitted to the Department of Rheumatology, Children′s Hospital of Fudan University from December 2020 to December 2024. Statistical description was performed using SPSS 22.0.Results:Among the 10 patients, the male-to-female ratio was 1:4, the age of onset was (7.2±4.0) years, and the disease duration at diagnosis was (22.2±19.6) months. None had a history of statin exposure. Six patients presented with muscle weakness, and4 were diagnosed due to asymptomatic elevation of creatine kinase (CK); 4 had dermatomyositis-like rashes. All patients showed significantly elevated CK levels [median 3 291(1 969, 8 776)U/L] and underwent muscle biopsy. Histopathological findings revealed myofiber degeneration, necrosis, and regeneration in all cases, with inflammatory infiltration in 9 cases, MHC-Ⅰ positivity in all, and C5b-9 positivity in 9 cases. The median follow-up duration was (15.7±6.3) months. At the last follow-up, muscle strength was normal or nearly normal, and the CK median value had decreased to 977.5 (211.0, 3 536.0) U/L.Conclusion:For patients with suspected idiopathic inflammatory myopathy and significantly elevated CK, muscle-specific antibody testing-including anti-HMGCR-and muscle biopsy should be performed promptly regardless of the presence of skin rash, to ensure accurate diagnosis and guide treatment, thereby avoiding misdiagnosis or missed diagnosis.