Objective:To describe the clinical manifestations, genetic mutation site, diagnosis, and treatment of a patient with multisystem proteinopathy type 1 (MSP1) caused by valosin-containing protein ( VCP) gene mutation, and to improve clinicians′ understanding of this disease. Methods:A retrospective analysis was performed on clinical and genetic data from a confirmed VCP gene missense mutation-associated MSP1 case diagnosed at the Department of Neurology, Affiliated Zhongda Hospital, School of Medicine, Southeast University in January 2024. A 12-month follow-up and systematic literature review were performed for comprehensive analysis. Results:The 53-year-old male patient presented with progressive limb weakness over 7 months. Neurological examination demonstrated tongue fasciculations, asymmetric proximal muscle weakness in all four limbs, left patellar hyperreflexia, positive right Chaddock sign, and bilateral Hoffmann signs. Electrophysiological studies demonstrated extensive neurogenic damage. Lower-limb muscle magnetic resonance imaging (MRI) showed selective fatty infiltration in specific muscle groups. Biceps brachii biopsy pathology revealed rimmed vacuoles and grouped atrophy of typeⅡfibers. Immunofluorescence confirmed aberrant aggregation of VCP within atrophic myofibers, showing co-localization with p62 and transactive response DNA binding protein 43 (TDP-43). Whole-genome sequencing identified a heterozygous c.463C>T (p.Arg155Cys) missense mutation in exon 5 of the VCP gene, classified as a likely pathogenic mutation according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The patient was diagnosed with MSP1 with amyotrophic lateral sclerosis and inclusion body myopathy as the main clinical manifestation based on clinical manifestations, electrophysiology, imaging, histopathology, and genetic findings. After 12 months of riluzole therapy, disease progression remained relatively slow. Literature review identified 67 relevant articles, revealing 87 VCP mutation genotypes and 19 clinical phenotypes. Conclusions:MSP1 is a genetically and phenotypically heterogeneous spectrum of multisystem degenerative disorders. This case represents the first reported VCP-related MSP1 in China, characterized by amyotrophic lateral sclerosis combined with inclusion body myopathy. Riluzole treatment demonstrates slowed disease progression over 1 year.

Objective:To describe the clinical manifestations, genetic mutation site, diagnosis, and treatment of a patient with multisystem proteinopathy type 1 (MSP1) caused by valosin-containing protein ( VCP) gene mutation, and to improve clinicians′ understanding of this disease. Methods:A retrospective analysis was performed on clinical and genetic data from a confirmed VCP gene missense mutation-associated MSP1 case diagnosed at the Department of Neurology, Affiliated Zhongda Hospital, School of Medicine, Southeast University in January 2024. A 12-month follow-up and systematic literature review were performed for comprehensive analysis. Results:The 53-year-old male patient presented with progressive limb weakness over 7 months. Neurological examination demonstrated tongue fasciculations, asymmetric proximal muscle weakness in all four limbs, left patellar hyperreflexia, positive right Chaddock sign, and bilateral Hoffmann signs. Electrophysiological studies demonstrated extensive neurogenic damage. Lower-limb muscle magnetic resonance imaging (MRI) showed selective fatty infiltration in specific muscle groups. Biceps brachii biopsy pathology revealed rimmed vacuoles and grouped atrophy of typeⅡfibers. Immunofluorescence confirmed aberrant aggregation of VCP within atrophic myofibers, showing co-localization with p62 and transactive response DNA binding protein 43 (TDP-43). Whole-genome sequencing identified a heterozygous c.463C>T (p.Arg155Cys) missense mutation in exon 5 of the VCP gene, classified as a likely pathogenic mutation according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The patient was diagnosed with MSP1 with amyotrophic lateral sclerosis and inclusion body myopathy as the main clinical manifestation based on clinical manifestations, electrophysiology, imaging, histopathology, and genetic findings. After 12 months of riluzole therapy, disease progression remained relatively slow. Literature review identified 67 relevant articles, revealing 87 VCP mutation genotypes and 19 clinical phenotypes. Conclusions:MSP1 is a genetically and phenotypically heterogeneous spectrum of multisystem degenerative disorders. This case represents the first reported VCP-related MSP1 in China, characterized by amyotrophic lateral sclerosis combined with inclusion body myopathy. Riluzole treatment demonstrates slowed disease progression over 1 year.

OBJECTIVE：To evaluate the benefit and risk of tirofiban in the treatment of acute coronary syndrome （ACS），and to provide evidence-based reference for clinical drug selection and decision. METHODS ：Retrieved from domestic and foreign database as PubMed ，the Cochrane Library ，CNKI and Wanfang database ，during the establishment of database to Apr. 2020，two researcher independently screened the literature based on inclusion and exclusion criteria and extracted the data. After the quality evaluation of the included literatures ，based on rapid health technology assessment ，the extracted results were classifiedly evaluated and comprehensively analyzed. RESULTS ：A total of 13 researches of systematic review/Meta-analysis and 1 research of pharmacoeconomics were included. Compared with placebo ，tirofiban could significantly reduce all-cause mortality [OR ＝0.68， 95％CI（0.54，0.86），P＝0.000 1] and the incidence of major adverse cardiac events （MACE）in patients with ACS [RR ＝0.24， 95％CI（0.14，0.40），P＜0.01]，and increased the incidence of TIMI 3 [OR＝5.73，95％CI（2.99.10.97），P＜0.01]. Tirofiban and eptifibatide had similar therapeutic efficacy in the treatment of ACS ，but tirofiban significantly increased the risk of TIMI small bleeding in patients with ACS [RR ＝0.61，95％CI（0.38，0.98），P＝0.04]. For ACS patients with non-ST elevation （NSTE-ACS）， compared with placbo ，tirofiban significantly reduced the incidence of MACE [RR ＝0.76，95％ CI（0.61，0.96），P＝0.018]，but significantly increased the risk of bleeding [OR ＝1.49，95％CI（1.12，1.98），P＝0.006]，while there was no significant difference in its effects on the all-cause mortality of NSTE-ACS patients （P＞0.05）. For STEMI patients ，compared with placebo ，tirofiban significantly reduced the all-cause mortality [RR＝0.61，95％CI（0.35，1.05），P＝0.007] and the incidence of MACE [RR ＝0.63，95％ CI（0.44，0.90），P＝0.007]. When combined with liposuction ，tirofiban also significantly reduced the incidence of MACE [RR ＝ 2.05，95％CI（1.71，2.46），P＜0.01]，and significantly increased the incidence of TIMI 3 [OR＝3.18，95％ CI（2.4，4.22），P＜ 0.01]，but there was no significant difference in its effects on bleeding risk （P＞0.05）. The included pharmacoeconomic study showed that patients treated with bivalutine could get 10.07 QALYs，patients treated with heparin combined with tirofiban could get 9.98 QALYs，and the incremental cost-effectiveness ratio bivalutine compared to the latter one was 28 575.77 yuan/QALYs，which was lower than 3 times of the per capita GDP of some cities. CONCLUSIONS ：Tirofiban has good efficacy in the treatment of ACS，but it can increase the risk of bleeding than eptifibatide and placebo. Domestic bivalirudin treating for ACS has a cost-effectiveness advantage over tirofiban combined with heparin.