1.Clinical progress on Menkes disease
International Journal of Pediatrics 2024;51(5):326-330
Menkes disease is a rare and fatal progressive neurodegenerative disease associated with copper deficiency due to inactivation of the ATP7A copper transporter protein,which typically presents with severe neurodegeneration and connective tissue abnormalities and has an extremely poor prognosis.Menkes disease is not easily recognized early in the neonatal period due to its lack of neonatal specificity,and copper replacement therapy is less effective in children with frequent convulsions and neurodevelopmental regressions.Therefore,early diagnosis and timely implementation of copper replacement therapy are important for improving the prognosis of children with Menkes disease.This article reviews the progress of research on the etiology,pathophysiological mechanism,histologic features,main clinical manifestations,auxiliary examinations,treatment,prognosis and genetic counseling of Menkes disease,with the aim of improving clinicians' understanding of this disease.
2.Role of TRPV1 in Cardiovascular Disease and the Related Progress of Traditional Chinese Medicine Research
Hongying LYU ; Mingshuang HOU ; Guanjun JIA ; Yushun KOU ; Mengyao LI ; Yongxiang LI ; Jing XU ; Qianqian CHEN ; Zhengjie TENG ; Lin YI
Chinese Journal of Modern Applied Pharmacy 2024;41(4):556-566
Transient receptor potential vanilloid-1(TRPV1) channel is a non-selective ligand-gated cationic channel with multiple activation mechanisms in the transient receptor potential subfamily. In recent years, a large number of studies have found that TRPV1 plays an important role in the field of cardiovascular diseases such as hypertension and atherosclerosis. With the in-depth study of traditional Chinese medicine, it has been found that Chinese medicine monomers and their active components can activate or inhibit TRPV1 channels, which has certain potential in the study of cardiovascular diseases. In this paper, the role of TRPV1 channel in cardiovascular diseases and the research progress of traditional Chinese medicine prevention and treatment of cardiovascular diseases based on TRPV1 channel are reviewed, in order to provide new ideas for prevention and treatment of cardiovascular system diseases.