Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.

Objective To investigate the protective mechanism of ergothioneine against oxidative stress and inflammatory damage in vascular dementia(VaD)neurons through activation of the nuclear factor erythroid 2-related factor 2/heme oxygenase-1(Nrf2/HO-1)signaling pathway.Methods A total of 15 VaD patients(VaD group)admitted in our hospital from December 2023 to April 2024 were prospectively recruited,and another 15 healthy individuals taking physical examination during same period were subjected and served as health group.Then,plasma ergothioneine levels in the two groups were quantified by liquid chromatography-tandem mass spectrometry(LC-MS/MS).In in vitro experiments,hippocampal neurons were isolated from neonatal rats,and then divided into control,oxygen-glucose deprivation model,ergothioneine,and ergothioneine+ML385 groups.The expression levels of key molecules of Nrf2/HO-1 signaling pathway,oxidative stress markers,inflammatory cytokines,and apoptosis-related proteins were detected with RT-qPCR and Western blotting.Results The VaD patients exhibited significantly reduced plasma ergothioneine level(694.71±106.87 vs 1268.84±152.87)and down-regulated mRNA levels of Nrf2(0.49±0.14 vs 1.00±0.17),HO-1(0.35±0.23 vs 1.00±0.14)and NQO1(0.39±0.16 vs 1.00±0.12)than the health group(P＜0.05,P＜0.01).Compared with the control group,the model group showed significant increases in inflammatory factor levels.Ergothioneine treatment resulted in significant decreases in malondialdehyde and reactive oxygen species contents,and neuronal apoptosis rate.The ergothioneine+ML385 group showed a significant increase in hippocampal neuronal apoptotic rate,when compared with the ergothionein group.Conclusion Ergothioneine protects VaD neurons against oxidative stress and inflammatory damage by activating the Nrf2/HO-1 signaling pathway.

Objective To investigate the impacts of percutaneous endoscopic interlaminar discectomy(PEID)on pain level and lumbar function in patients with lumbar disc herniation(LDH).Methods From January 2022 to August 2023,84 patients were diagnosed with L4/5 LDH based on clinical data and imaging information were selected as the study subjects.And they were assigned into 42 cases in experimental group and 42 cases in traditional groups complying with treatment methods.The traditional group underwent traditional open approach treatment,while the experimental group underwent PEID.The surgical indicators(including hospitalization time,surgical time,bed rest time,and intraoperative fluoroscopy frequency),the levels of interleukin-6(IL-6)and tumor necrosis factor-α(TNF-α)were compared between the two groups,the visual analogue scale(VAS)score and Oswestry disability index(ODI)were used to quantify the pain level of waist and lower limbs and lumbar function,and the excellent and good rate of clinical satisfaction and the incidence of complications were compared.Results The hospitalization time and bed rest time of the experimental group were obviously shorter than those of the traditional group,while the fluoroscopy frequency was less than that of the traditional group,and surgical time was longer than that of the traditional group,the differences were statistically significant(P＜0.05).After treatment,the pain VAS score and ODI of waist and lower limbs,the IL-6,and TNF-α in the two groups were lower than those before treatment,the experimental group was lower than the traditional group,the differences were statistically significant(P＜0.05).The excellent and good rate of the experimental group and the traditional group were 88.10％and 83.33％,respectively,with no statistically significant difference(P＞0.05).There was no statistically significant difference in the total incidence of complications between the two groups(P＞0.05).Conclusion PEID surgery can effectively alleviate nerve compression,alleviate pain of waist and lower limbs,promote the recovering of lumbar function,and facilitate postoperative recovery in LDH patients.

Objective To investigate the impacts of percutaneous endoscopic interlaminar discectomy(PEID)on pain level and lumbar function in patients with lumbar disc herniation(LDH).Methods From January 2022 to August 2023,84 patients were diagnosed with L4/5 LDH based on clinical data and imaging information were selected as the study subjects.And they were assigned into 42 cases in experimental group and 42 cases in traditional groups complying with treatment methods.The traditional group underwent traditional open approach treatment,while the experimental group underwent PEID.The surgical indicators(including hospitalization time,surgical time,bed rest time,and intraoperative fluoroscopy frequency),the levels of interleukin-6(IL-6)and tumor necrosis factor-α(TNF-α)were compared between the two groups,the visual analogue scale(VAS)score and Oswestry disability index(ODI)were used to quantify the pain level of waist and lower limbs and lumbar function,and the excellent and good rate of clinical satisfaction and the incidence of complications were compared.Results The hospitalization time and bed rest time of the experimental group were obviously shorter than those of the traditional group,while the fluoroscopy frequency was less than that of the traditional group,and surgical time was longer than that of the traditional group,the differences were statistically significant(P＜0.05).After treatment,the pain VAS score and ODI of waist and lower limbs,the IL-6,and TNF-α in the two groups were lower than those before treatment,the experimental group was lower than the traditional group,the differences were statistically significant(P＜0.05).The excellent and good rate of the experimental group and the traditional group were 88.10％and 83.33％,respectively,with no statistically significant difference(P＞0.05).There was no statistically significant difference in the total incidence of complications between the two groups(P＞0.05).Conclusion PEID surgery can effectively alleviate nerve compression,alleviate pain of waist and lower limbs,promote the recovering of lumbar function,and facilitate postoperative recovery in LDH patients.

Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.

Objective To investigate the protective mechanism of ergothioneine against oxidative stress and inflammatory damage in vascular dementia(VaD)neurons through activation of the nuclear factor erythroid 2-related factor 2/heme oxygenase-1(Nrf2/HO-1)signaling pathway.Methods A total of 15 VaD patients(VaD group)admitted in our hospital from December 2023 to April 2024 were prospectively recruited,and another 15 healthy individuals taking physical examination during same period were subjected and served as health group.Then,plasma ergothioneine levels in the two groups were quantified by liquid chromatography-tandem mass spectrometry(LC-MS/MS).In in vitro experiments,hippocampal neurons were isolated from neonatal rats,and then divided into control,oxygen-glucose deprivation model,ergothioneine,and ergothioneine+ML385 groups.The expression levels of key molecules of Nrf2/HO-1 signaling pathway,oxidative stress markers,inflammatory cytokines,and apoptosis-related proteins were detected with RT-qPCR and Western blotting.Results The VaD patients exhibited significantly reduced plasma ergothioneine level(694.71±106.87 vs 1268.84±152.87)and down-regulated mRNA levels of Nrf2(0.49±0.14 vs 1.00±0.17),HO-1(0.35±0.23 vs 1.00±0.14)and NQO1(0.39±0.16 vs 1.00±0.12)than the health group(P＜0.05,P＜0.01).Compared with the control group,the model group showed significant increases in inflammatory factor levels.Ergothioneine treatment resulted in significant decreases in malondialdehyde and reactive oxygen species contents,and neuronal apoptosis rate.The ergothioneine+ML385 group showed a significant increase in hippocampal neuronal apoptotic rate,when compared with the ergothionein group.Conclusion Ergothioneine protects VaD neurons against oxidative stress and inflammatory damage by activating the Nrf2/HO-1 signaling pathway.

Objective:To compare the short-term efficacy of laparoscopic sleeve gastrectomy (LSG) combined with sharp His angle reconstruction (LSG-His) versus traditional LSG.Methods:In this retrospective cohort study we collected clinical data of patients with obesity who had undergone LSG or LSG-His in the Department of General Surgery, Beijing Chaoyang Hospital, Capital Medical University, from January to June 2022. After excluding patients with incomplete follow-up data and those with hiatal hernia, 83 obese patients, of which 39 who had undergone LSG (LSG group) and 44 who had undergone LSG-His (LSG-His group), were included in the study. The basic steps in LSG-His are the same as in conventional LSG. After continuous suturing of the gastric staple line, one stitch is placed between the proximal side of the gastric greater curvature staple line and the proximal side of the gastric fundus posterior wall with the left diaphragm, and another stitch between the right side of the gastric fundus and the esophagus, reconstructing the sharp His angle. Clinical data, postoperative complications, and follow-up data on weight loss and gastroesophageal reflux disease (GERD) symptoms 1-, 3-, 6-, and 12-months post-discharge were compared between the two groups. GERD symptoms were assessed using the Gastroesophageal Reflux Disease Questionnaire and Reflux Diagnostic Questionnaire.Results:There were no significant differences between the two groups in baseline characteristics, length of hospital stay, hospitalization costs, intraoperative bleeding, postoperative nausea and vomiting, dysphagia, or postoperative complications (all P>0.05). Compared with the LSG group, the LSG-His group had significantly longer operative times (92 [80, 100] minutes vs. 80 [70, 100] minutes, U=2.227, P=0.026), higher postoperative 24-hour pain scores (5.2±1.8 vs. 4.3±1.9, t=-2.065, P=0.041), and higher rates of morphine use (70.5% [31/44] vs. 46.2% [18/39], χ2=4.519, P=0.025). The incidence of new-onset GERD 12 months postoperatively was significantly lower in the LSG-His than the LSG group (10.7% [3/28] vs. 61.3% [19/31], χ2=14.00, P<0.001). According to changes in Gastroesophageal Reflux Disease Questionnaire and Reflux Diagnostic Questionnaire scores, the LSG-His group also had significantly lower rates of exacerbation of GERD (2/16 vs. 5/8, χ2=4.27, P=0.021) and higher rates of GERD remission (12/16 vs. 2/8, χ2=3.62, P=0.032) than did the LSG group. Additionally, excess weight loss rates were significantly higher in the LSG-His group at 3 months [(54.7± 18.7)% vs. (46.5±15.0)% , t=-2.166, P=0.033], 6 months [(73.8±24.7)% vs. (64.0±19.1)% , t=-2.018, P=0.047], and 12 months [(82.9±26.7)% vs. (72.2±19.3)%, t=-2.063, P=0.042] than in the LSG group. Conclusion:Compared with LSG, LSG-His is safe and feasible and achieves better short-term control of postoperative GERD and more effective weight loss. Further large-scale, long-term, prospective studies are needed to confirm the long-term efficacy of LSG-His.

Objective:To compare the short-term efficacy of laparoscopic sleeve gastrectomy (LSG) combined with sharp His angle reconstruction (LSG-His) versus traditional LSG.Methods:In this retrospective cohort study we collected clinical data of patients with obesity who had undergone LSG or LSG-His in the Department of General Surgery, Beijing Chaoyang Hospital, Capital Medical University, from January to June 2022. After excluding patients with incomplete follow-up data and those with hiatal hernia, 83 obese patients, of which 39 who had undergone LSG (LSG group) and 44 who had undergone LSG-His (LSG-His group), were included in the study. The basic steps in LSG-His are the same as in conventional LSG. After continuous suturing of the gastric staple line, one stitch is placed between the proximal side of the gastric greater curvature staple line and the proximal side of the gastric fundus posterior wall with the left diaphragm, and another stitch between the right side of the gastric fundus and the esophagus, reconstructing the sharp His angle. Clinical data, postoperative complications, and follow-up data on weight loss and gastroesophageal reflux disease (GERD) symptoms 1-, 3-, 6-, and 12-months post-discharge were compared between the two groups. GERD symptoms were assessed using the Gastroesophageal Reflux Disease Questionnaire and Reflux Diagnostic Questionnaire.Results:There were no significant differences between the two groups in baseline characteristics, length of hospital stay, hospitalization costs, intraoperative bleeding, postoperative nausea and vomiting, dysphagia, or postoperative complications (all P>0.05). Compared with the LSG group, the LSG-His group had significantly longer operative times (92 [80, 100] minutes vs. 80 [70, 100] minutes, U=2.227, P=0.026), higher postoperative 24-hour pain scores (5.2±1.8 vs. 4.3±1.9, t=-2.065, P=0.041), and higher rates of morphine use (70.5% [31/44] vs. 46.2% [18/39], χ2=4.519, P=0.025). The incidence of new-onset GERD 12 months postoperatively was significantly lower in the LSG-His than the LSG group (10.7% [3/28] vs. 61.3% [19/31], χ2=14.00, P<0.001). According to changes in Gastroesophageal Reflux Disease Questionnaire and Reflux Diagnostic Questionnaire scores, the LSG-His group also had significantly lower rates of exacerbation of GERD (2/16 vs. 5/8, χ2=4.27, P=0.021) and higher rates of GERD remission (12/16 vs. 2/8, χ2=3.62, P=0.032) than did the LSG group. Additionally, excess weight loss rates were significantly higher in the LSG-His group at 3 months [(54.7± 18.7)% vs. (46.5±15.0)% , t=-2.166, P=0.033], 6 months [(73.8±24.7)% vs. (64.0±19.1)% , t=-2.018, P=0.047], and 12 months [(82.9±26.7)% vs. (72.2±19.3)%, t=-2.063, P=0.042] than in the LSG group. Conclusion:Compared with LSG, LSG-His is safe and feasible and achieves better short-term control of postoperative GERD and more effective weight loss. Further large-scale, long-term, prospective studies are needed to confirm the long-term efficacy of LSG-His.

Objective:To investigate the effects of applying the "4C" teaching method combined with the Gibbs' reflective cycle to clinical nursing teaching in the department of urology.Methods:A total of 68 nursing students who practiced in the urology department of our hospital were divided using a lottery method into experimental group ( n=35, entering the second and third wards for internship) and control group ( n=33, entering the first and fourth wards). The experimental group was taught using the "4C" teaching method combined with the Gibbs' reflective cycle, including four teaching steps (connection, concept, concrete practice, and conclusion) and regular reflective discussions. The control group received traditional teaching, which covered entrance education, centralized theoretical training, skills demonstration, and exit assessment. At the end of internship, the two groups were compared in terms of self-directed learning ability, nursing competency, and theoretical and practical scores. SPSS 23.0 was used to perform the t test. Results:The self-directed learning scores of the experimental group and the control group were (227.37±12.91) and (207.09±16.27), respectively. The nursing competency scores were (156.66±12.49) and (138.06±17.23), respectively. The experimental group was significantly superior to the control group in self-directed learning ability ( t=5.71, P<0.001), nursing competency ( t=5.12, P<0.001), theoretical score ( t=3.03, P=0.004), and practical score ( t=4.88, P<0.001). Conclusions:The "4C" teaching method combined with the Gibbs' reflective cycle can effectively improve nursing students' self-directed learning ability and nursing competency, and help them better master knowledge and skills.

OBJECTIVE: To analyze the prognosis of fetuses identified with de novo variants of unknown significance (VOUS) by chromosome microarray analysis (CMA). METHODS: A total of 6 826 fetuses who underwent prenatal CMA detection at the Prenatal Diagnosis Center of Drum Tower Hospital from July 2017 to December 2021 were selected as the study subjects. The results of prenatal diagnosis, and outcome of fetuses identified with VOUS of de novo origin were followed up. RESULTS: Among the 6 826 fetuses, 506 have carried VOUS, of which 237 were detected for the parent-of-origin and 24 were found to be de novo. Among the latters, 20 were followed up for 4 to 24 months. Four couples had opted elective abortion, 4 had developed clinical phenotypes after birth, and 12 were normal. CONCLUSION Fetuses with VOUS should be continuously follow-up, in particular those carrying de novo VOUS, in order to clarify their clinical significance.
Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Follow-Up Studies ; Prenatal Diagnosis/methods* ; Chromosomes ; Microarray Analysis/methods* ; Fetus ; Chromosome Aberrations