Journal of the Chinese Medical Association : JCMA
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Case Reports
Identification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a variety of clinical findings. Variants in the TSC complex subunit 1 gene (TSC1) or the TSC complex subunit 2 gene (TSC2) are responsible for TSC. ⋯ The study expanding the disease-causing variant spectrum, suggests that whole-exome sequencing combined with Sanger sequencing may be a method for TSC diagnosis and differential diagnosis, and may facilitate the development of genetic counseling and targeted gene therapy for this disease.
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Clinical and radiological outcomes of endovascular thrombectomy (EVT) are related to etiologies of large vessel occlusion (LVO) in acute stroke. However, preprocedural computed tomography angiography (CTA) or CT perfusion imaging can hardly distinguish embolic occlusion from atherosclerotic occlusion. We hypothesized that quantitative multiphase CTA (mCTA) of LVO may predict occlusion types and thrombectomy outcome. ⋯ The mCTA-based quantitative radiodensities of acute LVO provides preprocedural predictive values of DSA-determined occlusion types and thrombectomy outcomes.
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Stent patency after carotid angioplasty and stenting (CAS) correlates not only with stroke prevention but also with improvements in cognition and quality of life by positively influencing cerebral perfusion. The long-term outcomes of CAS after more than 5 years have still not been well described. This retrospective study was designed to evaluate the stent patency and significant restenosis (SR) after CAS with more than 5 years of follow-up. ⋯ Both HNRT and left-sided carotid stenosis were predictors of SR after CAS in more than 5 years of long-term follow-up. Restenosis-free survival was significantly shorter in patients with prior HNRT than in patients without previous irradiation treatment. We suggest close follow-up and aggressive medical treatment for patients with prior HNRT and left-sided carotid stenosis undergoing CAS.
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Randomized Controlled Trial Comparative Study
Omeprazole versus famotidine for the prevention of gastroduodenal injury in high-risk users of low-dose aspirin - a randomized controlled trial.
Low-dose aspirin is widely used in the prevention of cardiovascular diseases. However, the use of aspirin is associated with an increased risk of gastrointestinal injury. ⋯ Proton pump inhibitor was superior to histamine-2 receptor antagonist in the prevention of gastroduodenal mucosal breaks in high-risk users of low-dose aspirin, and smoking was an independent risk factor for developing gastroduodenal mucosal breaks.