Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China / 中国当代儿科杂志

OBJECTIVES@#To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.@*METHODS@#A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.@*RESULTS@#A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.@*CONCLUSIONS@#This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

Anemia prevalence and its influencing factors for the infants aged 6-23 months in poor areas in Gansu Province / 中华疾病控制杂志

Objective To understand the prevalence of anemia and its influencing factors in infants aged 6 to 24 months in poor areas of Gansu Province, and to provide reference for improving the prevalence of anemia in local children. Methods A multi-stage sampling method was used to conduct a survey on infant and caregivers, in the 12 children nutrition improvement project counties in Gansu Province. T-test and analysis of variance were used to compare the hemoglobin content, the chi-square test was used to compare the prevalence of anemia, and the Logistic regression model was used to analyze the influencing factors. Results Among the 3 188 effective data, the detection rate of anemia was 25.69% (819). The detection rate of anemia among boys and girls was 24.54% and 26.90%, respectively. There was no significant difference in the detection rate of anemia among different sexes ( 2=2.326, P=0.127). The detection rate of anemia between different age groups were statistically significant ( 2=42.339, P<0.001); The results of multivariate analysis showed that children's age, children's ethnic groups, parents' awareness of feeding knowledge, the feeding method of 6 months after birth and the way of taking nutritional packs were associated with anemia (all P<0.05). Conclusions The prevalence of anemia in infants aged 6 to 24 months in poor areas in Gansu Province was relatively high. Strengthening the education of caretakers’ knowledge of guardian feeding and scientific child-rearing, and ensuring the nutrition packages intake can significantly reduce the prevalence of anemia prevalence in poor areas in Gansu Province.