Objectives To summarize the diagnosis and treatment of cardiomyopathy caused by inborn errors of metabo-lism (IEM). Methods The retrospective study included 11 cases diagnosed as metabolic cardiomyopathy through tandem mass spectrometry, activity of serum enzyme, detection of urine mucopolysaccharide and gene analysis from 2012 to 2013. Six cases were diagnosed as primary carnitine deficiency (PCD). Four cases were diagnosed as glycogen storage disease (GSD) and only 1 case was diagnosed as mucopolysaccharidosis. Six PCD cases received carnitine supplementation and anti-heart failure thera-py and received follow-up for 2-10 months. Other 5 cases received supportive treatment and follow-up. Results Patients with PCD recovered soon after treatment but other 5 cases have died within 5 months. Conclusion IEM is an important cause of chil-dren cardiomyopathy which varied in clinical manifestation, diagnosis, treatment and prognosis of different kinds of metabolic cardiomyopathy. Early diagnosis and treatment could be lifesaving for cardiomyopathy caused by IEM.

Objective To explore the strategy of constructing a scientific management system for antibiotics in a tertiary hospital,and to provide reference to strengthen the management and rational use of antibiotic.Methods Using PDCA management tools to build a scientifically effective antimicrobial drug management system.Evaluation of management quality of antimicrobial stewardship was constructed by 14 indicators of 5 dimensions.The entropy weight TOPSIS method was used to comprehensively evaluate and analyze the changes in various indicators after the implementation of PDCA improvement.Results Based on the entropy weight TOPSIS analysis,the management quality of antibiotics in 2018 was the lowest with the Ci value 0.313 5,and the management quality of antibiotics in 2022 was the highest with the Ci value 0.747 4.The evaluation of antimicrobial stewardship was divided into five dimensions:for the evaluation of antibiotics use density,the Ci value in 2017 was highest;for the evaluation of antibiotics usage rate,the Ci value in 2021 was the highest;for the evaluation of the submission rate before use of antibiotics,the Ci value in 2022 was the highest;for the evaluation of preventive medication for type I incisions,the Ci value was highest in 2022;the evaluation of the cost dimension of antibiotics for hospitalized patients showed the highest Ci value in 2022.The application of PDCA method for antibiotics management had shown an overall improvement trend.Conclusion Based on PDCA method,collaboration through multiple departments for antibiotics management had achieved significant results.The entropy weight TOPSIS method can be used to evaluate the effectiveness of antibiotics management,to provide reference for the direction of hospital antibiotics control and policy formulation.

OBJECTIVETo investigate the mutation and background of SLC22A5 in 6 patients with primary carnitine deficiency (PCD) who only presented as cardiomyopathy.

METHODGenomic DNA were abstracted from the blood of the patients and their parents. Using high-throughput sequencing to determine the mutation site.Using Sanger method to confirm the mutated alleles in PCD patients and detect the corresponding sequences in their patients. Using SIFT and PolyPhen to predict the function of protein for detected missense mutations.

RESULTThree different mutations were identified, including 2 nonsense mutations (R254X and R289X), 1 missense mutation (C113Y), R254X was the most frequently seen mutation. Four patients had compound heterozygous mutations and 2 patients had homozygous mutations. Their parents were found to have heterozygous mutations in corresponding alleles.

CONCLUSIONR254X, R289X and C113Y might be associated with primary carnitine deficiency.

Adolescent ; Base Sequence ; Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genotype ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Hyperammonemia ; genetics ; Infant ; Male ; Muscular Diseases ; genetics ; Mutation ; Organic Cation Transport Proteins ; genetics ; Pedigree ; Solute Carrier Family 22 Member 5