1.Development of couples′ communication quality scale for gynecological cancer patients and its reliability and validity
Xiaoxin CHEN ; Yingju LI ; Hanfei SUN ; Xiaoxiang XU ; Tianyi WANG ; Min LI
Chinese Journal of Practical Nursing 2023;39(2):132-137
Objective:To develop couples′ communication quality scale for gynecological cancer patients and test its reliability and validity in accordance with Chinese cultural background.Methods:The scale was initially formed by literature review and Delphi expert consultation. From May to November in 2021, the scale was initially formed by literature review and Delphi expert consultation. A cross-sectional survey of 360 gynecologic cancer patients in Qilu Hospital, Shandong University was conducted from May to August 2021 using a convenience sampling method, and after pretesting, item analysis and exploratory factor analysis were used to screen the scale items. After the formal scale was formed, 385 gynecological cancer patients from Qilu Hospital, Shandong University were conveniently selected for formal testing from September to November 2021, and the reliability and validity of the scale was tested.Results:The formal couples′ communication quality scale for gynecological cancer patients was composed of 34 items from 5 dimensions of "self-disclosure", "perceived response", "stress coping", "normal creation" and "constructive action", with a cumulative variance contribution rate of 68.181%. The Cronbach α coefficient of the scale was 0.949, the split-half reliability coefficient was 0.766, the retest reliability coefficient was 0.898, and the criterion validity coefficient was 0.696. The model′s χ2/ df was 1.778, root mean square error of approximation was 0.047, comparative fit index was 0.956, incremental fix index was 0.956, Tucker-Lewis index was 0.952, normal of fit index was 0.905. Conclusions:The scale can be used to evaluate the quality of couples′ communication among gynecological cancer patients in Chinese context with good reliability and validity.
2.Characterization of an IDS pathogenic variant in a family with mucopolysaccharidosis type Ⅱ
Hanfei YU ; Qian QIN ; Jie WU ; Xueyuan JIA ; Wei JI ; Xuelong ZHANG ; Lidan XU ; Kexian DONG ; Rongwei GUAN ; Hao WANG ; Wenjing SUN
Chinese Journal of Endocrinology and Metabolism 2023;39(4):345-352
Objective:To identify the genetic variation in a mucopolysaccharidosis type Ⅱ(MPS Ⅱ)family, and conduct a functional study of iduronate-2-sulfatase(IDS): c.323A>C.Methods:A five-generation MPS Ⅱ family of 83 individuals including 4 patients from northern China was collected. Urine mucopolysaccharide and Alder-Reilly body were tested to assist the clinical diagnosis of MPS Ⅱ. IDS enzyme activity was detected on core family members. By the whole exome sequencing of a MPS Ⅱ patient in this family and bioinformatics analysis, the variant was screened and further identified by PCR-Sanger sequencing. Finally, to validate the function of the variant in vitro, the wild-type IDS overexpression plasmid(pCMV-hIDS-WT)and the IDS overexpression plasmid carrying the mutation site(pCMV-hIDS-c.323A>C)were transfected into COS-7 cells and the IDS activity was detected. Results:The proband(Ⅳ3)and Ⅳ4 were diagnosed as MPS Ⅱ by urine mucopolysaccharide, Alder-Reilly body, and IDS enzyme activity tests. Ⅳ3, Ⅳ4, Ⅲ19, and Ⅲ32 were determined to carry IDS: c.323A>C missense variant through the whole-exome sequencing, and diagnosed as MPS Ⅱ. Meanwhile, Ⅱ2, Ⅱ4, Ⅱ8, Ⅱ12, Ⅱ14, Ⅲ5, Ⅲ7, Ⅳ14 in the MPS Ⅱ family carried IDS: c.323A>C missense variant, and were excluded as MPS Ⅱ. The in vitro experiment in COS-7 cells showed that the missense mutation led to a significant decrease in IDS enzyme activity. Conclusion:The variant IDS: c.323A>C: p.Y108S significantly decreases the activity of IDS enzyme in vivo and in vitro, and it is identified as a pathogenic variant for MPS Ⅱ.