1.Research progress of glycosylation disorder epilepsy associated with ALG13 mutation
Anhong LIU ; Jing ZHANG ; Shuxiang LI ; Xin QIAN ; Yang XIA ; Peng GAO
The Journal of Practical Medicine 2025;41(8):1091-1096
Epilepsy(EP)is a group of chronic neurological disorders characterized by abnormal discharges of brain neurons.Howeve,approximately one-third of patients exhibit obvious drug resistance,and studies have confirmed the critical role of genetic factors.The ALG13 gene encodes a subunit of uridine diphosphate N-acetylglucosamine(UDP-GlcNAc)transferase,and its mutations can lead to congenital disorders of glycosylation(CDGs).Patients with such mutations frequently present with epileptic seizures,indicating a strong association between ALG13 genetic variants,glycosylation defects,and epilepsy.This review systematically integrates,for the first time,the structural and functional aspects of the ALG13 gene,as well as the evidence of the association between its mutations and epilepsy,and the potential mechanisms of action.Through a multi-dimensional analysis,it provides important clinical guidance for in-depth exploration of the relationship between the ALG13 gene and epilepsy,the development of precise diagnosis,and the research and development of targeted drugs.
2.Research progress of glycosylation disorder epilepsy associated with ALG13 mutation
Anhong LIU ; Jing ZHANG ; Shuxiang LI ; Xin QIAN ; Yang XIA ; Peng GAO
The Journal of Practical Medicine 2025;41(8):1091-1096
Epilepsy(EP)is a group of chronic neurological disorders characterized by abnormal discharges of brain neurons.Howeve,approximately one-third of patients exhibit obvious drug resistance,and studies have confirmed the critical role of genetic factors.The ALG13 gene encodes a subunit of uridine diphosphate N-acetylglucosamine(UDP-GlcNAc)transferase,and its mutations can lead to congenital disorders of glycosylation(CDGs).Patients with such mutations frequently present with epileptic seizures,indicating a strong association between ALG13 genetic variants,glycosylation defects,and epilepsy.This review systematically integrates,for the first time,the structural and functional aspects of the ALG13 gene,as well as the evidence of the association between its mutations and epilepsy,and the potential mechanisms of action.Through a multi-dimensional analysis,it provides important clinical guidance for in-depth exploration of the relationship between the ALG13 gene and epilepsy,the development of precise diagnosis,and the research and development of targeted drugs.
3.Research status on element selection of medical magnesium alloy
Anhong LIU ; Mengmeng CAI ; Xiao HAN ; Zhanhui WANG
Chinese Journal of Tissue Engineering Research 2024;28(5):777-782
BACKGROUND:Due to natural degradation,excellent biocompatibility and good mechanical properties,magnesium alloy has become a very valuable implant material in the biomedical field.However,the rapid degradation rate of magnesium alloy limits its further development and application. OBJECTIVE:To review the principle of the degradation of magnesium and its alloys in a physiological environment.The current research status of alloying elements selection is mainly introduced from the aspects of the safety of elements and their influence on the properties of magnesium and its alloys. METHODS:The articles were searched by using the databases of CNKI,PubMed,Web of Science and Elsevier.The key words were"magnesium(alloy),metal name(such as:bismuth(Bi),aluminum(Al)),corrosion,biocompatibility,metal toxicity,scaffold(stent)/screw"in Chinese and English.The search period was from 2013 to 2023.As a result,70 articles were applied for analysis after reading the contents of the articles. RESULTS AND CONCLUSION:Magnesium alloy has been widely studied in the medical field.Although some products have been applied in clinical practice,the high degradation rate of magnesium alloy in the human environment is still the main limitation of large-scale clinical application.The focus of future development is to control its corrosion rate.Alloying is a kind of method to improve the corrosion resistance of magnesium alloys,and various properties can also be improved by adding different alloy components.However,simple alloying cannot satisfy the pursuit of diversified properties of magnesium alloys.To develop multifunctional magnesium alloy products with excellent performance,it is necessary to combine various optimization methods,such as alloying and surface modification,to make up for the shortcomings of their respective methods in the future.In addition,the alloy structure updating with preparation process improvement is combined to enhance the properties of magnesium alloy.

Result Analysis
Print
Save
E-mail