Objective:To summarize the clinical manifestations,gene mutation type,treatment,and follow-up results of one admitted infant with biliary cholestatic liver disease caused by ABCB4 gene mutation,so as to improve the un...Objective:To summarize the clinical manifestations,gene mutation type,treatment,and follow-up results of one admitted infant with biliary cholestatic liver disease caused by ABCB4 gene mutation,so as to improve the understanding of this rare disease.Methods:A retrospective analysis was conducted on the clinical manifestations,laboratory examinations,gene mutation type,treatment,and follow-up data of one infant with biliary cholestatic liver disease caused by ABCB4 gene mutation.Results:The patient was a 1 month 23-day old male infant.His main clinical manifestations included dark yellow skin,rash,and pruritus.The disease onset was early,and his serum gamma-glutamyl transpeptidase level was elevated.Genetic analysis revealed two newly identified point mutations in the ABCB4 gene,namely c.1576G>A and c.2596A>G heterozygotes,which were inherited from his father.The infant was cured after treatment with integrated traditional Chinese and Western medicine,and no recurrence was observed during a 6-month follow-up.Conclusion:This study reports a case of biliary cholestatic liver disease caused by ABCB4 gene mutation in an infant,which expands the mutation spectrum of the ABCB4 gene.It also provides a reference for the early diagnosis and treatment of this rare disease using integrated traditional Chinese and Western medicine.展开更多
This research reports a novel heterogeneous Fenton-like catalyst which could freely move through the model sediments and easily seize the pollutants in addition to efficiently catalyze H2O2,well suitable for soil and ...This research reports a novel heterogeneous Fenton-like catalyst which could freely move through the model sediments and easily seize the pollutants in addition to efficiently catalyze H2O2,well suitable for soil and groundwater remediation.Herein,submicron y-Fe2O3/C spheres were synthesized through a facile one-step aerosol-based process.In a series of column tests,these spheres exhibit better transport ability due to their optimal size,conforming to the prediction by the Tufenkji-Elimelech filtration theo ry.Meanwhile,y-Fe2O3/C spheres could act as a strong adsorbent for organic pollutants owing to the presence of carbon,thereby providing a driving force to gather contaminants into their vicinity and facilitating the reaction.In addition,immobilization of y-Fe2O3 nanoparticles into carbon spheres protects iron oxides from aggregation,and thus retains the number of active sites for catalytic decomposition of H2O2.Hence,the system containing the as-prepared y-Fe2O3/C spheres and H2O2 shows the high removal efficiency and degradation efficiency in the remediation of recalcitrant organic contaminants such as methylene blue and sulfamethoxazole.展开更多
基金Key Project of School-Level Fund of Dongguan Polytechnic:“Exploring the Role and Molecular Mechanism of Astragalus membranaceus in Preventing and Treating Bronchopulmonary Dysplasia through Its‘Qi-Invigorating’Function Based on the HMGB1/RAGE/TLR4 Signaling Pathway”(Project No.:2024a07)。
文摘Objective:To summarize the clinical manifestations,gene mutation type,treatment,and follow-up results of one admitted infant with biliary cholestatic liver disease caused by ABCB4 gene mutation,so as to improve the understanding of this rare disease.Methods:A retrospective analysis was conducted on the clinical manifestations,laboratory examinations,gene mutation type,treatment,and follow-up data of one infant with biliary cholestatic liver disease caused by ABCB4 gene mutation.Results:The patient was a 1 month 23-day old male infant.His main clinical manifestations included dark yellow skin,rash,and pruritus.The disease onset was early,and his serum gamma-glutamyl transpeptidase level was elevated.Genetic analysis revealed two newly identified point mutations in the ABCB4 gene,namely c.1576G>A and c.2596A>G heterozygotes,which were inherited from his father.The infant was cured after treatment with integrated traditional Chinese and Western medicine,and no recurrence was observed during a 6-month follow-up.Conclusion:This study reports a case of biliary cholestatic liver disease caused by ABCB4 gene mutation in an infant,which expands the mutation spectrum of the ABCB4 gene.It also provides a reference for the early diagnosis and treatment of this rare disease using integrated traditional Chinese and Western medicine.
基金supported by the National Natural Science Foundation of China(NSFC,Nos.21876022,31400840)the Fundamental Research Funds for the Central Universities(No.DUT16ZD226)PetroChina Innovation Foundation(No.2017D5007-0609)。
文摘This research reports a novel heterogeneous Fenton-like catalyst which could freely move through the model sediments and easily seize the pollutants in addition to efficiently catalyze H2O2,well suitable for soil and groundwater remediation.Herein,submicron y-Fe2O3/C spheres were synthesized through a facile one-step aerosol-based process.In a series of column tests,these spheres exhibit better transport ability due to their optimal size,conforming to the prediction by the Tufenkji-Elimelech filtration theo ry.Meanwhile,y-Fe2O3/C spheres could act as a strong adsorbent for organic pollutants owing to the presence of carbon,thereby providing a driving force to gather contaminants into their vicinity and facilitating the reaction.In addition,immobilization of y-Fe2O3 nanoparticles into carbon spheres protects iron oxides from aggregation,and thus retains the number of active sites for catalytic decomposition of H2O2.Hence,the system containing the as-prepared y-Fe2O3/C spheres and H2O2 shows the high removal efficiency and degradation efficiency in the remediation of recalcitrant organic contaminants such as methylene blue and sulfamethoxazole.
