1.A case of 46, XY disorders of sexual development caused by the heterozygous mutation of DHX37 gene
Yu YANG ; Hui HUANG ; Tieniu WU ; Li YANG ; Liling XIE ; Xia SHUAI ; Ka CHEN ; Xiangyu XIONG
Chinese Journal of Applied Clinical Pediatrics 2022;37(18):1413-1415
A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
2.Investigation and analysis on anxiety and depression of 183 medical staffs during the epidemic period of the COVID-19
Qi LI ; Jin WEI ; Qi WU ; Naxin ZHANG ; Tieniu ZHAO
Chinese Journal of Industrial Hygiene and Occupational Diseases 2020;38(12):908-911
Objective:To evaluate the degree of anxiety and depression of medical staff during the epidemic period of the COVID-19, and to provide theoretical basis for the pertinence psychological intervention timely.Methods:The investigation about the psychological status of 183 medical staffs on duty during the epidemic period was conducted using Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) from 18th to 20th February, 2020, who came from Tianjin and other provinces. The respondents were divided into first-line and non-first-line groups according to their jobs, and local and non-local groups according to their work places, respectively. The data was collected by "Star Questionnaires" using the mobile terminal, and the statistical analysis was carried out to compare whether there were differences in depression and anxiety among medical staff of different groups.Results:The total SAS score (48.96±9.21) and SDS score (56.69±7.57) of all medical staff were higher than those of the national norm SAS (33.80±5.90) and SDS (41.88±10.57) from 1158 individuals ( P<0.01) . Among 183 medical staff, the anxiety was found in 87 individuals and the rate of anxiety was 47.5%. The depression was found in 134 individuals and its rate was 73.2%. The anxiety combined with depression was found in 69 individuals and its rate was 37.7%. The scores of SAS and SDS of first-line group were (49.40±9.77) and (55.76±6.86) , respectively. And those of non-first-line group were (48.69±8.87) and (57.29±7.96) . They were higher than those of the national norm, and the differences were both statistically significant ( P<0.01) , but there was no difference between the first-line group and non-first-line group. The scores of SAS and SDS of local group were (48.23±9.04) and (56.76±7.05) , while those of non-local group were (50.63±9.45) and (56.54±8.71) , respectively. The differences were statistically significant ( P<0.01) , compared with the national norm respectively. But there was no difference between the local group and non-local group. No matter which classification criteria were used, there was no statistically significant difference in the severity distribution of anxiety and depression among different groups ( P>0.05) . Conclusion:The anxiety and depression exist obviously among the medical staff during the epidemic period of the COVID-19, and the psychological intervention should be taken out in time.
3.Investigation and analysis on anxiety and depression of 183 medical staffs during the epidemic period of the COVID-19
Qi LI ; Jin WEI ; Qi WU ; Naxin ZHANG ; Tieniu ZHAO
Chinese Journal of Industrial Hygiene and Occupational Diseases 2020;38(12):908-911
Objective:To evaluate the degree of anxiety and depression of medical staff during the epidemic period of the COVID-19, and to provide theoretical basis for the pertinence psychological intervention timely.Methods:The investigation about the psychological status of 183 medical staffs on duty during the epidemic period was conducted using Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) from 18th to 20th February, 2020, who came from Tianjin and other provinces. The respondents were divided into first-line and non-first-line groups according to their jobs, and local and non-local groups according to their work places, respectively. The data was collected by "Star Questionnaires" using the mobile terminal, and the statistical analysis was carried out to compare whether there were differences in depression and anxiety among medical staff of different groups.Results:The total SAS score (48.96±9.21) and SDS score (56.69±7.57) of all medical staff were higher than those of the national norm SAS (33.80±5.90) and SDS (41.88±10.57) from 1158 individuals ( P<0.01) . Among 183 medical staff, the anxiety was found in 87 individuals and the rate of anxiety was 47.5%. The depression was found in 134 individuals and its rate was 73.2%. The anxiety combined with depression was found in 69 individuals and its rate was 37.7%. The scores of SAS and SDS of first-line group were (49.40±9.77) and (55.76±6.86) , respectively. And those of non-first-line group were (48.69±8.87) and (57.29±7.96) . They were higher than those of the national norm, and the differences were both statistically significant ( P<0.01) , but there was no difference between the first-line group and non-first-line group. The scores of SAS and SDS of local group were (48.23±9.04) and (56.76±7.05) , while those of non-local group were (50.63±9.45) and (56.54±8.71) , respectively. The differences were statistically significant ( P<0.01) , compared with the national norm respectively. But there was no difference between the local group and non-local group. No matter which classification criteria were used, there was no statistically significant difference in the severity distribution of anxiety and depression among different groups ( P>0.05) . Conclusion:The anxiety and depression exist obviously among the medical staff during the epidemic period of the COVID-19, and the psychological intervention should be taken out in time.