Objective:To investigate the indications for prenatal diagnosis using copy number variation-sequencing (CNV-seq) and the abnormalities detected by the method.Methods:This retrospective analysis involved 17 994 singleton pregnant women who underwent prenatal CNV-seq at the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2022. These cases were divided into five groups based on the following indications for CNV-seq: abnormal fetal ultrasound findings, high-risk results indicated by non-invasive prenatal testing (NIPT) or Down's syndrome serological screening (Down's screening), adverse pregnancy history, and advanced maternal age. The proportions of cases with the indications for prenatal CNV-seq, the detection rates of abnormalities (numerical abnormalities of chromosomes, pathogenic/likely pathogenic CNV in structural abnormalities) in the five groups, and the distribution of these abnormalities were analyzed. Statistical analysis was performed using Chi-square test. Results:Among the 17 994 pregnant women, the women with abnormal fetal ultrasound findings, high-risk NIPT results, high-risk Down's screening results, adverse pregnancy history, and advanced maternal age accounted for 32.65% (5 875/17 994), 11.90% (2 142/17 994), 31.62% (5 690/17 994), 11.70% (2 105/17 994), and 12.13% (2 182/17 994), respectively. The detection rates of abnormalities in the five groups were 10.60% (623/5 875), 34.64% (742/2 142), 4.69% (267/5 690), 2.99% (63/2 105), and 3.67% (80/2 182), respectively. The overall detection rate of abnormalities was 9.86% (1 775/17 994). The cases with numerical abnormalities of chromosomes accounted for 68.79% (1 221/1 775), trisomy 21 was predominant (49.30%, 602/1 221). Chromosomal structural abnormalities were detected in 31.21% (554/1 775) of the cases with abnormalities, with 57.76% (320/554) harboring pathogenic CNVs and 42.24% (234/554) harboring likely pathogenic CNVs. The detection rate of chromosomal numerical abnormalities was higher than that of structural abnormalities in the abnormal fetal ultrasound group, NIPT high-risk group, and advanced maternal age group [6.81% (400/5 875) vs. 3.80% (223/5 875), χ2=53.10; 27.96% (599/2 142) vs. 6.68% (143/2 142), χ2=338.40; 2.43% (53/2 182) vs. 1.24% (27/2 182), χ2=8.61; all P<0.01]. A total of 416 microdeletions and 255 microduplications were detected in the 554 cases. The top three regions with the highest frequencies in microdeletions were Xp22.31 (12.74%, 53/416), 22q11.21 (7.93%, 33/416), and 17q12 (5.77%, 24/416); in microduplications, they were 22q11.21 (14.90%, 38/255), 17q12 (3.53%, 9/255), and 7q11.23 (3.53%, 9/255). Conclusions:Abnormal fetal ultrasound findings accounted for the highest proportion of prenatal diagnostic indications. The overall detection rate of abnormalities by CNV-seq is relatively high, especially in those with high-risk NIPT results as an indication for prenatal diagnosis. Among the chromosomal structural abnormalities detected in this study, the frequencies of Xp22.31 microdeletion and 22q11.21 microduplication are higher.

Objective To enhance the qualified rate of preoperative bladder filling and improve the experience of embryo transfer by implementing a nursing intervention based on the root cause analysis and plan-do-check-act(RCA-PDCA)cycle.Methods A before-after comparative study was conducted among the patients who received embryo transfer at a Tire-ⅢA specialist hospital between January and April 2024.The patient who received embryo transfer between January and February 2024(n=130)were assigned to the control group with routine nursing.Those who received embryo transfer between March and April 2024 were assigned to the trial group(n=136)with nursing intervention based on RCA-PDCA.The two groups were compared in terms of the qualified rate of bladder filling,endometrial visualisation rate,instrument-assisted transfer rate and level of comfort.Results A total of 126 women in the control group and 131 in the trial group completed the study.The patient in the trial group demonstrated significantly higher qualified rate of bladder filling and endometrial visualisation rate in comparison with those in the control group(70.2％vs.38.1％,81.7％vs.51.6％,respectively).The trial group also had lower rates in both of the instrument-assisted transfer and the incidence of mild pain than those in the control group(2.3％vs.7.9％,32.1％vs.53.2％,respectively;P<0.05).Conclusion RCA-PDCA is effective in improving preoperative bladder filling and endometrial visualisation,reducing instrument-assisted transfer and enhancing preoperative bladder comfort in the women receiving embryo transfer.

Objective:To investigate the indications for prenatal diagnosis using copy number variation-sequencing (CNV-seq) and the abnormalities detected by the method.Methods:This retrospective analysis involved 17 994 singleton pregnant women who underwent prenatal CNV-seq at the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2022. These cases were divided into five groups based on the following indications for CNV-seq: abnormal fetal ultrasound findings, high-risk results indicated by non-invasive prenatal testing (NIPT) or Down's syndrome serological screening (Down's screening), adverse pregnancy history, and advanced maternal age. The proportions of cases with the indications for prenatal CNV-seq, the detection rates of abnormalities (numerical abnormalities of chromosomes, pathogenic/likely pathogenic CNV in structural abnormalities) in the five groups, and the distribution of these abnormalities were analyzed. Statistical analysis was performed using Chi-square test. Results:Among the 17 994 pregnant women, the women with abnormal fetal ultrasound findings, high-risk NIPT results, high-risk Down's screening results, adverse pregnancy history, and advanced maternal age accounted for 32.65% (5 875/17 994), 11.90% (2 142/17 994), 31.62% (5 690/17 994), 11.70% (2 105/17 994), and 12.13% (2 182/17 994), respectively. The detection rates of abnormalities in the five groups were 10.60% (623/5 875), 34.64% (742/2 142), 4.69% (267/5 690), 2.99% (63/2 105), and 3.67% (80/2 182), respectively. The overall detection rate of abnormalities was 9.86% (1 775/17 994). The cases with numerical abnormalities of chromosomes accounted for 68.79% (1 221/1 775), trisomy 21 was predominant (49.30%, 602/1 221). Chromosomal structural abnormalities were detected in 31.21% (554/1 775) of the cases with abnormalities, with 57.76% (320/554) harboring pathogenic CNVs and 42.24% (234/554) harboring likely pathogenic CNVs. The detection rate of chromosomal numerical abnormalities was higher than that of structural abnormalities in the abnormal fetal ultrasound group, NIPT high-risk group, and advanced maternal age group [6.81% (400/5 875) vs. 3.80% (223/5 875), χ2=53.10; 27.96% (599/2 142) vs. 6.68% (143/2 142), χ2=338.40; 2.43% (53/2 182) vs. 1.24% (27/2 182), χ2=8.61; all P<0.01]. A total of 416 microdeletions and 255 microduplications were detected in the 554 cases. The top three regions with the highest frequencies in microdeletions were Xp22.31 (12.74%, 53/416), 22q11.21 (7.93%, 33/416), and 17q12 (5.77%, 24/416); in microduplications, they were 22q11.21 (14.90%, 38/255), 17q12 (3.53%, 9/255), and 7q11.23 (3.53%, 9/255). Conclusions:Abnormal fetal ultrasound findings accounted for the highest proportion of prenatal diagnostic indications. The overall detection rate of abnormalities by CNV-seq is relatively high, especially in those with high-risk NIPT results as an indication for prenatal diagnosis. Among the chromosomal structural abnormalities detected in this study, the frequencies of Xp22.31 microdeletion and 22q11.21 microduplication are higher.

Objective To enhance the qualified rate of preoperative bladder filling and improve the experience of embryo transfer by implementing a nursing intervention based on the root cause analysis and plan-do-check-act(RCA-PDCA)cycle.Methods A before-after comparative study was conducted among the patients who received embryo transfer at a Tire-ⅢA specialist hospital between January and April 2024.The patient who received embryo transfer between January and February 2024(n=130)were assigned to the control group with routine nursing.Those who received embryo transfer between March and April 2024 were assigned to the trial group(n=136)with nursing intervention based on RCA-PDCA.The two groups were compared in terms of the qualified rate of bladder filling,endometrial visualisation rate,instrument-assisted transfer rate and level of comfort.Results A total of 126 women in the control group and 131 in the trial group completed the study.The patient in the trial group demonstrated significantly higher qualified rate of bladder filling and endometrial visualisation rate in comparison with those in the control group(70.2％vs.38.1％,81.7％vs.51.6％,respectively).The trial group also had lower rates in both of the instrument-assisted transfer and the incidence of mild pain than those in the control group(2.3％vs.7.9％,32.1％vs.53.2％,respectively;P<0.05).Conclusion RCA-PDCA is effective in improving preoperative bladder filling and endometrial visualisation,reducing instrument-assisted transfer and enhancing preoperative bladder comfort in the women receiving embryo transfer.

Allergic conjunctivitis is the most common type of allergic eye disease, and the incidence in children and adolescents is increasing year by year. Drug therapy can only relieve some symptoms and only in a short period, while allergen immunotherapy is currently a therapy that can significantly improve the symptoms of chronic allergy and the course of the disease. This method has been used abroad for many years but has yet to be reported in China. The author reviews the effective mechanism and clinical efficiency of allergen immunotherapy and provides a reference for the further clinical application in China.

Objective:To investigate the clinical and genetic characteristics of children with 45, X/46, XY mosaicism.Methods:The retrospective study included 20 children diagnosed with 45, X/46, XY and 45, X/46, X,+mar mosaicism in the First Affiliated Hospital of Zhengzhou University from 2018 to 2022. The clinical features, gonadal pathology, treatment and follow-up were summarized. Genetic tests were performed by SRY gene test, azoospermia factor region (AZF) deletion test, copy number variation-sequencing (CNV-seq). Age at first diagnosis was compared between boys and girls using independent sample t-test. Results:The 20 patients included 3 boys and 17 girls, and the age at first diagnosis were (7.6±5.5) years, it is (2.1±1.9) years in boys, (8.7±5.4) years in girls, significantly younger for boys ( t=-3.86, P=0.004). The chief complaint was external genitalia malformation for boys, and short stature (13 cases) and dysplastic external genital for girls (4 cases). Five girls presented with features of Turner syndrome. The gonadal phenotypes included mixed gonadal dysplasia (MGD, 6 cases), complete gonadal dysplasia (CGD, 10 cases), unilateral ovotestis (2 cases), possible ovaries (1 case) and undetermined gonad (1 case). One female with dysplastic genital was reassigned to male, and the gender of the remaining cases remained unchanged. Seven females were treated with recombinant human growth hormone. The height increased by (17±7) cm during the (2.9±1.2) years follow-up. No gonadal malignancy was observed. The karyotype was 45, X/46, XY in 16 cases, and 45, X/46, X,+mar in 4 cases. All of the 4 marker chromosomes were derived from Y chromosome confirmed by CNV-seq. SRY gene was detected in all 20 patients genome, and AZF deletion was found in 7 girls. Conclusions:45, X/46, XY mosaicism presented with dysplastic external genital or female with remarkable short stature. Gonadal phenotypes included MGD, CGD and ovotestis. AZF microdeletions were found in the majority of female cases.

The contents recorded in the rotation registration manual is not only the quantitative indicators for evaluating the quality of residency training, but also the important basis for training assessment and issuance of training certificates. In order to solve the problems of data authenticity, information delay, and repeated entry in the rotation registration manual for residency training, Shanghai East Hospital, Tongji University, launched a project to dock the electronic rotation registration manual with the hospital information system. Through the establishment of the project team, the development of working mechanisms, and the implementation of the project, data analysis was used for process reformation and system optimization, so as to continuously improve management efficiency and medical safety while solving problems and form a set of implementation system with reference significance in practice.

Objective:To investigate the effect of water intake on bladder filling time before embryo transfer.Methods:A total of 189 patients were collected from February to June 2023 who were to undergo embryo transfer in Guangdong Women and Children Hospital. The patients were divided into group A ( n=61), group B ( n=64) and group C ( n=64) using a random number table and they were respectively given 300 mL, 500 mL and 700 mL water to drink. Abdominal ultrasound was performed every 15 min, a total of 1-5 times, from 45 min after drinking water until the bladder filling. The bladder filling time and bladder volume were collected. Kaplan-Meier method was used to compare the difference of bladder filling time among the three groups. The multivariate Cox regression was used to analyze factors of bladder filling time. Results:The cumulative bladder filling rates of group A, group B and group C at 105 min after drinking water were 57.4% (35/61), 90.6% (58/64) and 98.4% (63/64), respectively, and the median survival time (95% CI) of bladder filling was 105.0 (89.9-120.1) min, 60.0 (55.4-64.7) min and 60.0 (55.4-64.6) min, respectively. Pairwise comparison of Kaplan-Meier analysis revealed that the bladder filling time of group A was longer than that of group B and group C ( P<0.001), and there was no statistically significant difference between group B and group C ( P>0.05). The results of age-stratification analysis showed that the bladder filling time of younger patients in group A [90.0 (75.2-104.8) min] was longer than that in group B [60.0 (55.8-64.2) min, P<0.001] and group C [60.0 (55.1-64.8) min, P<0.001], and there was no statistical significance between group B and group C ( P>0.05); the bladder filling time of older patients in group C [60.0 (59.1-70.9) min] was shorter than that in group A [105.0 (89.9-120.1) min, P<0.001] and group B [75.0 (64.3-85.7) min, P=0.027], there was no statistical significance between group A and group B ( P>0.05). Multivariate Cox regression analysis showed that taking group A as reference, the hazard ratio ( HR, 95% CI) of groups B and C were 2.71 (1.78-4.21) and 3.23 (2.10-4.96), both P<0.001. The HR (95% CI) of the elderly patients was 0.69 (0.49-0.99), P=0.044. Conclusion:Water intake and age are independent factors affecting bladder filling time in embryo transfer patients. Patients are recommended to drink 500 mL of water 75 min before embryo transfer and appropriately increase the amount of water or extend the bladder preparation time after drinking water for elderly patients.

Objective:To investigate the effect of water intake on bladder filling time before embryo transfer.Methods:A total of 189 patients were collected from February to June 2023 who were to undergo embryo transfer in Guangdong Women and Children Hospital. The patients were divided into group A ( n=61), group B ( n=64) and group C ( n=64) using a random number table and they were respectively given 300 mL, 500 mL and 700 mL water to drink. Abdominal ultrasound was performed every 15 min, a total of 1-5 times, from 45 min after drinking water until the bladder filling. The bladder filling time and bladder volume were collected. Kaplan-Meier method was used to compare the difference of bladder filling time among the three groups. The multivariate Cox regression was used to analyze factors of bladder filling time. Results:The cumulative bladder filling rates of group A, group B and group C at 105 min after drinking water were 57.4% (35/61), 90.6% (58/64) and 98.4% (63/64), respectively, and the median survival time (95% CI) of bladder filling was 105.0 (89.9-120.1) min, 60.0 (55.4-64.7) min and 60.0 (55.4-64.6) min, respectively. Pairwise comparison of Kaplan-Meier analysis revealed that the bladder filling time of group A was longer than that of group B and group C ( P<0.001), and there was no statistically significant difference between group B and group C ( P>0.05). The results of age-stratification analysis showed that the bladder filling time of younger patients in group A [90.0 (75.2-104.8) min] was longer than that in group B [60.0 (55.8-64.2) min, P<0.001] and group C [60.0 (55.1-64.8) min, P<0.001], and there was no statistical significance between group B and group C ( P>0.05); the bladder filling time of older patients in group C [60.0 (59.1-70.9) min] was shorter than that in group A [105.0 (89.9-120.1) min, P<0.001] and group B [75.0 (64.3-85.7) min, P=0.027], there was no statistical significance between group A and group B ( P>0.05). Multivariate Cox regression analysis showed that taking group A as reference, the hazard ratio ( HR, 95% CI) of groups B and C were 2.71 (1.78-4.21) and 3.23 (2.10-4.96), both P<0.001. The HR (95% CI) of the elderly patients was 0.69 (0.49-0.99), P=0.044. Conclusion:Water intake and age are independent factors affecting bladder filling time in embryo transfer patients. Patients are recommended to drink 500 mL of water 75 min before embryo transfer and appropriately increase the amount of water or extend the bladder preparation time after drinking water for elderly patients.

OBJECTIVE: To explore the genetic basis for a rare case with Disorder of sex development. METHODS: Clinical data of the patient was collected. Chromosomal karyotyping, SRY gene testing, whole exome sequencing (WES), low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and whole genome sequencing (WGS) were carried out. RESULTS: The patient, a 14-year-old female, had manifested short stature and dysplasia of second sex characteristics. She was found to have a 46,XY karyotype and positive for the SRY gene. No pathogenic variant was found by WES, except a duplication at Yp11.32q12. The result of CNV-seq was 47,XYY. FISH has confirmed mosaicism for a dicentric Y chromosome. A 23.66 Mb duplication on Yp11.32q11.223 and a 5.16 Mb deletion on Yq11.223q11.23 were found by WGS. The breakpoint was mapped at chrY: 23656267. The patient's karyotype was ultimately determined as 46,X,psu idic(Y)(q11.223)/46,X,del(Y)(q11.223). CONCLUSION The combination of multiple methods has facilitated clarification of the genetic etiology in this patient, which has provided a reference for the clinical diagnosis and treatment.
Female ; Humans ; Adolescent ; DNA Copy Number Variations ; In Situ Hybridization, Fluorescence ; Y Chromosome ; Sexual Development ; Mosaicism