1.Clinical analysis of middle-aged cases of macroencephalic leukoencephalopathy with subcortical cysts
Fengyu WANG ; Jinlong ZOU ; Junkui SHANG ; Shuai CHEN ; Mingrong XIA ; Jiewen ZHANG
Chinese Journal of Neurology 2023;56(11):1294-1298
Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIN: 604004) caused by mutations in the MLC1 gene, is an rare autosomal recessive disorder. More patients are with infancy and young children onset, whereas adult cases are rare. Only 2 patients from 1 family have been reported in domestic adult cases. Now a 58-year-old female MLC patient is reported. The clinical manifestations of the patient included large head circumference, slow responses, walking difficulties, seizures and paroxysmal loss of consciousness. The result of whole exome sequencing revealed a homozygous insertion mutation c.920_943dup in the MLC1 gene. The mutation in this patient has not been reported in the Human Gene Mutation Database.
2.Traditional Chinese Medicine Intervention for Ferroptosis in Treatment of Inflammatory Bowel Disease: A Review
Mingrong SHANG ; Yanan ZHAO ; Xuyang ZHANG ; Huifang CUI ; Yijing ZHAO ; Ming LIU ; Dejie ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(11):245-254
Inflammatory bowel disease (IBD), mainly including ulcerative colitis (UC) and Crohn's disease (CD), is a common chronic inflammatory disease of the gastrointestinal tract, with its incidence increasing year by year. Due to its long treatment duration, difficulty in treatment, prolonged remission, and high costs, it has attracted global attention. Exploring safe, effective, and sustainable treatment regimens has become an urgent global issue. The pathogenesis of IBD is complex, involving intestinal mucosal injury,disturbances in the internal environment, and inflammatory responses. In recent years, research has found that ferroptosis is also one of the important pathogenic factors of IBD. Ferroptosis, as a new form of non-apoptotic cell death, is characterized by iron dependence, lipid peroxidation, and imbalance in the redox system. Studies have shown that inhibiting ferroptosis in intestinal epithelial cells can protect the intestinal mucosa. Targeted intervention in ferroptosis may be a new direction for the treatment of IBD. IBD is mainly treated with drugs, including corticosteroids, aminosalicylates, biologics, and immunomodulators, but drug resistance and adverse reactions are common. Traditional Chinese medicine (TCM) has unique advantages such as low cost, low drug resistance, and fewer side effects, and has accumulated rich experience in the treatment of IBD. Scholars have confirmed that TCM can inhibit ferroptosis, and recent studies have shown that TCM can not only inhibit iron-dependent lipid peroxidation in intestinal cells but also enhance the antioxidant and anti-inflammatory abilities of intestinal mucosa, thus playing a role in the treatment of IBD. Increasing evidence suggests that TCM may treat IBD by interfering with ferroptosis. This article explores the relevance of TCM intervention in ferroptosis and the treatment of IBD, discusses the possible mechanisms of ferroptosis in IBD, and aims to provide a basis for the diagnosis and treatment of IBD.