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Objective:To investigate the clinical and genetic characteristics of families with myotonic dystrophy type I.Methods:Two families with myotonic dystrophy type I admitted to Department of Neurology, First Affiliated Hospital of He'nan University of Science and Technology in September and October 2021 were chosen; their clinical data were retrospectively analyzed. The muscle pathological changes were confirmed by electromyography and muscle MRI. Repeat-primed PCR assay was used to detect the number of CTG repeats in the 3' end non-coding region of DMPK gene. Results:Clinical heterogeneity existed among the two families of patients; muscle weakness and muscular atrophy of the skeletal muscle were the main clinical manifestations; limb weakness, axe face, percussion myotonia and myoglobular sign were noted; systemic multi-system symptoms included palpitation and chest tightness, cataracts, gastrointestinal symptoms, fatigue/lethargy, and cognitive impairment. Electromyography showed myotonic potential and myogenic damage. Muscle fatty infiltration and atrophy were noted in muscle MRI, and lesions were predominantly in the gastrocnemius. All patients had abnormal amplification of DMPK gene CTG (number of CTG repeats> 50 or 100). Conclusion:In addition to skeletal muscle involvement, systemic multi-system involvement such as cardiac, eye, respiratory, endocrine, and nervous system should also be noted by clinicians in patients with myotonic dystrophy type I.
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Objective To investigate the predictive factors of symptomatic intracranial hemorrhage(SICH) and the effect on outcomes after mechanical thrombectomy in patients with acute ischemic strokecaused by anterior circulation tandem occlusion. Methods From January 2014 to September 2018, patients with acute ischemic stroke caused by anterior circulation tandem occlusion and treated by endovascular mechanical thrombectomy from the Departments of Neurology in 5 general hospitals (the First Affiliated Hospital of Henan University of Science and Technology, the Affiliated Hospital of Yangzhou University,General Hospital of Eastern Theatre Command of PLA, Yijishan Hospital of Wannan Medical College,Xinqiao Hospital of Army Medical University of PLA) were enrolled retrospectively. SICH was evaluated according to the criteria of Heidelberg Bleeding Classification. The functional outcome was assessed by the modified Rankin Scale score at 90 d after onset, and 0-2 was defined as good outcome. Multivariate logistic regression analysis was used to determine the effect of SICH on the outcome at 90 d and the independent risk factors for SICH. Results A total of 124 patients with acute ischemic stroke caused by anterior circulation tandem occlusion and treated by endovascular mechanical thrombectomy were enrolled in this study. Among them, 19 (15. 3％) had SICH, 60 (48. 4％) had good outcomes, and 28 (22. 6％) died. The incidence of poor outcomes (94. 7％ vs. 43. 8％; χ2 = 16. 708, P < 0. 001 ) and mortality (57. 9％ vs.16. 2％; P < 0. 001 ) in the SICH group were significantly higher than those in the non-SICH group.Multivariate logistic regression analysis showed that SICH was an independent risk factor for poor outcome(odds ratio [OR] 27. 78, 95％ confidence interval [CI] 2. 60-96. 70; P = 0. 006), while larger infarct core(low ASPECT score) was the only independent predictor of SICH (OR 2. 63, 95％ CI 1. 18-5. 88; P =0. 018). Conclusion In patients with acute ischemic stroke caused by anterior circulation tandem occlusion and treated by endovascular mechanical thrombectomy, SICH is associated with poor outcome and higher mortality at 3 months, and larger preoperative infarction core is an independent predictor of SICH.