1.Molecular cytogenetic analysis and diagnosis of three fetuses with psu idic(Y)(q11.22) using a combination of multiple techniques.
Xuejiao CHEN ; Meizhen DAI ; Milei ZHU ; Weiwu SHI
Chinese Journal of Medical Genetics 2025;42(3):360-367
OBJECTIVE:
To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods.
METHODS:
A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860).
RESULTS:
Among the 11,000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45,X/46,X,psu idic(Y)(q11.22) mosaicism and one fetus with 46,X,psu idic(Y)(q11.22) were detected. FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. AZF testing revealed complete deletion of the AZFb+AZFc regions in fetus 2 and fetus 3.
CONCLUSION
Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).
Humans
;
Female
;
Pregnancy
;
Prenatal Diagnosis/methods*
;
DNA Copy Number Variations/genetics*
;
Adult
;
Chromosomes, Human, Y/genetics*
;
Karyotyping
;
In Situ Hybridization, Fluorescence
;
Cytogenetic Analysis/methods*
;
Fetus
;
High-Throughput Nucleotide Sequencing
;
Male
2.Molecular cytogenetic analysis and diagnosis of three fetuses with psu idic(Y)(q11.22) using a combination of multiple techniques
Xuejiao CHEN ; Meizhen DAI ; Milei ZHU ; Weiwu SHI
Chinese Journal of Medical Genetics 2025;42(3):360-367
Objective:To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods.Methods:A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860). Results:① Among the 11, 000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45, X/46, X, psu idic(Y)(q11.22) mosaicism and one fetus with 46, X, psu idic(Y)(q11.22) were detected. ② FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. ③ AZF testing revealed complete deletion of the AZFb+ AZFc regions in fetus 2 and fetus 3. Conclusion:Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+ C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).
3.Research status of neoadjuvant therapy for borderline resectable pancreatic ductal adenocarcinoma
Weiwu CHEN ; Yuehong KONG ; Liyuan ZHANG
Cancer Research and Clinic 2025;37(3):232-236
The malignancy of pancreatic cancer is high. Radical resection is the main treatment method for non-metastatic pancreatic ductal adenocarcinoma. Neoadjuvant therapy can improve the surgical resection rate of borderline resectable pancreatic ductal adenocarcinoma (BR-PDAC) and prolong the survival of patients. In recent years, a large number of studies have been conducted on neoadjuvant therapy for pancreatic cancer at home and abroad, including radiotherapy, chemotherapy, immunotherapy and combination therapy. This article mainly reviews the current research status of neoadjuvant therapy for BR-PDAC.
4.Comparison of medial-lateral and lateral-only fixation for pediatric supracondylar humeral fractures:a systematic review and meta-analysis
Zhen CHEN ; Xi CHEN ; Xiaoting LI ; Daxin CHEN ; Weiwu HONG
Chinese Journal of Tissue Engineering Research 2025;29(27):5924-5932
OBJECTIVE:Supracondylar humeral fractures are the most common type of elbow fractures in children.Closed reduction fixation is the preferred treatment for displaced supracondylar humeral fractures.However,there is still disagreement over the choice of the right technology.Therefore,the purpose of this meta-analysis was to evaluate the efficacy of unilateral and bilateral cross-pinning in children with supracondylar humeral fractures,and to provide a reference for clinical treatment.METHODS:A comprehensive search of relevant randomized controlled trials published from inception to January 6,2023 was conducted on PubMed,Embase,Web of Science,and the Cochrane Library to compare the difference between two types of intralateral cross fixation and lateral fixation in children with supracondylar humeral fractures.The main outcome measures were imaging results(Baumann angle loss and carrying angle loss),elbow function results,and common complications(iatrogenic ulnar nerve injury and needle tract infection).RESULTS:(1)A total of 18 studies were included.(2)There was no statistical difference in the imaging results of Baumann angle loss(P=0.47)and carrying angle loss(P=0.47)between the two groups.The proportion of excellent children with joint function recovery score was 70.7%and 74.9%in the lateral fixation group and medial-lateral cross fixation group,with no statistical difference(P=0.12).There was also no statistically significant difference in the incidence of needle tract infection between the two groups(P=0.9),but the risk of iatrogenic ulnar nerve injury was higher in the medial-lateral cross fixation group(P=0.02).(3)However,there was no significant difference in the frequency of ulnar nerve injury in the intralateral cross fixation group when combined exploration with mini-open approach was performed compared with lateral fixation alone(P=0.2).(4)In the Gartland type Ⅲ subgroup,there were no significant differences in joint functional recovery scores(P=0.13),ulnar nerve injury(P=0.13),and needle tract infection(P=0.61).CONCLUSION:The meta-analysis reveals that compared with the lateral fixation technique,the medial-lateral cross fixation method is more likely to cause iatrogenic nerve injury in the forearm,but it also increases the stability of the structure.However,the small incision method combined with the medial-lateral cross fixation seems to reduce the risk of nerve injury in patients.Thus,the therapy of children with displaced supracondylar humeral fractures involves medial-lateral crossing pinning fixation using a mini-open approach as a reliable and secure method.
5.Comparison of medial-lateral and lateral-only fixation for pediatric supracondylar humeral fractures:a systematic review and meta-analysis
Zhen CHEN ; Xi CHEN ; Xiaoting LI ; Daxin CHEN ; Weiwu HONG
Chinese Journal of Tissue Engineering Research 2025;29(27):5924-5932
OBJECTIVE:Supracondylar humeral fractures are the most common type of elbow fractures in children.Closed reduction fixation is the preferred treatment for displaced supracondylar humeral fractures.However,there is still disagreement over the choice of the right technology.Therefore,the purpose of this meta-analysis was to evaluate the efficacy of unilateral and bilateral cross-pinning in children with supracondylar humeral fractures,and to provide a reference for clinical treatment.METHODS:A comprehensive search of relevant randomized controlled trials published from inception to January 6,2023 was conducted on PubMed,Embase,Web of Science,and the Cochrane Library to compare the difference between two types of intralateral cross fixation and lateral fixation in children with supracondylar humeral fractures.The main outcome measures were imaging results(Baumann angle loss and carrying angle loss),elbow function results,and common complications(iatrogenic ulnar nerve injury and needle tract infection).RESULTS:(1)A total of 18 studies were included.(2)There was no statistical difference in the imaging results of Baumann angle loss(P=0.47)and carrying angle loss(P=0.47)between the two groups.The proportion of excellent children with joint function recovery score was 70.7%and 74.9%in the lateral fixation group and medial-lateral cross fixation group,with no statistical difference(P=0.12).There was also no statistically significant difference in the incidence of needle tract infection between the two groups(P=0.9),but the risk of iatrogenic ulnar nerve injury was higher in the medial-lateral cross fixation group(P=0.02).(3)However,there was no significant difference in the frequency of ulnar nerve injury in the intralateral cross fixation group when combined exploration with mini-open approach was performed compared with lateral fixation alone(P=0.2).(4)In the Gartland type Ⅲ subgroup,there were no significant differences in joint functional recovery scores(P=0.13),ulnar nerve injury(P=0.13),and needle tract infection(P=0.61).CONCLUSION:The meta-analysis reveals that compared with the lateral fixation technique,the medial-lateral cross fixation method is more likely to cause iatrogenic nerve injury in the forearm,but it also increases the stability of the structure.However,the small incision method combined with the medial-lateral cross fixation seems to reduce the risk of nerve injury in patients.Thus,the therapy of children with displaced supracondylar humeral fractures involves medial-lateral crossing pinning fixation using a mini-open approach as a reliable and secure method.
6.Molecular cytogenetic analysis and diagnosis of three fetuses with psu idic(Y)(q11.22) using a combination of multiple techniques
Xuejiao CHEN ; Meizhen DAI ; Milei ZHU ; Weiwu SHI
Chinese Journal of Medical Genetics 2025;42(3):360-367
Objective:To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods.Methods:A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860). Results:① Among the 11, 000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45, X/46, X, psu idic(Y)(q11.22) mosaicism and one fetus with 46, X, psu idic(Y)(q11.22) were detected. ② FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. ③ AZF testing revealed complete deletion of the AZFb+ AZFc regions in fetus 2 and fetus 3. Conclusion:Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+ C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).
7.Research status of neoadjuvant therapy for borderline resectable pancreatic ductal adenocarcinoma
Weiwu CHEN ; Yuehong KONG ; Liyuan ZHANG
Cancer Research and Clinic 2025;37(3):232-236
The malignancy of pancreatic cancer is high. Radical resection is the main treatment method for non-metastatic pancreatic ductal adenocarcinoma. Neoadjuvant therapy can improve the surgical resection rate of borderline resectable pancreatic ductal adenocarcinoma (BR-PDAC) and prolong the survival of patients. In recent years, a large number of studies have been conducted on neoadjuvant therapy for pancreatic cancer at home and abroad, including radiotherapy, chemotherapy, immunotherapy and combination therapy. This article mainly reviews the current research status of neoadjuvant therapy for BR-PDAC.
8.Induction factors of hypotension during cesarean section for perilous placenta previa under combined spinal-epidural anesthesia and construction of a nomogram prediction model
Weiwu LIU ; Weilan ZENG ; Xiuying XU ; Shuqiang ZHOU ; Miao LIANG ; Limei LIU ; Heng CHEN
Journal of Clinical Medicine in Practice 2024;28(20):66-71
Objective To investigate the induction factors of hypotension during cesarean section for perilous placenta previa under combined spinal-epidural anesthesia (CSEA) and to construct a nomogram prediction model. Methods A total of 130 parturients who underwent cesarean section for perilous placenta previa under CSEA from January 2020 to December 2023 in Yulin Maternity and Child Healthcare Hospital were selected as study subjects. A self-designed general information questionnaire was used to investigate the basic information and the occurrence of hypotension of the subjects. According to the occurrence of intraoperative hypotension, the patients were divided into hypotension group (47 cases) and non-hypotension group (83 cases). Univariate analysis was performed on the general information of the two groups, and multivariate Logistic regression analysis was used to explore the induction factors of intraoperative hypotension. Results Univariate analysis showed that there were statistically significant differences in body mass index, anesthesia level, presence of multiple pregnancy, preoperative systolic blood pressure, operative time, and the occurrence of Bezold-Jarisch reflex between the two groups (
9.Efficacy and safety of Shugan Jieyu capsule combined with mosapride in the treatment of functional dyspepsia: a multicenter, randomized, double-blind, placebo-controlled trial
Ping XU ; Biyu WU ; Bin ZHAO ; Weiwu SHI ; Xuefeng ZHANG ; Shujun LIU ; Lina MENG ; Caihua WANG ; Rongyuan QIU ; Jie WU ; Xuanping XIA ; Xiujuan YAN ; Shengliang CHEN
Chinese Journal of Digestion 2024;44(10):671-678
Objective:To evaluate the efficacy and safety of mosapride citrate dispersible tablet (MP) combined with Shugan Jieyu capsule (SGJY) in the treatment of functional dyspepsia (FD).Methods:From April 2018 to January 2019, FD patients from 10 hospitals including Renji Hospital, Shanghai Jiaotong University School of Medicine, Luohe Hospital of Traditional Chinese Medicine, the Second Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Handan Hospital of Traditional Chinese Medicine and Nanshi Hospital of Nanyang were selected for a randomized, double-blind, placebo-controlled trial. The patient health questionnaire-9 (PHQ-9) and generalized anxiety disorder-7 (GAD-7) were used to assess depression and anxiety in FD patients, respectively. According to the random number table method, 200 FD patients who met the inclusion criteria were randomly divided into SGJY+ MP group and placebo+ MP group, with 100 patients in each group, and all the patients were given oral MP. The patients of the SGJY+ MP group and the placebo+ MP group were given oral SGJY or placebo on the basis of MP, respectively. The patients of both groups were treated continuously for 6 weeks. Total FD symptom scores, PHQ-9 and GAD-7 scores, as well as efficiency and safety were evaluated after treatment. Independent samples t-test and chi-square test were used for statistical analysis. Results:A total of 193 patients were included into the full analysis set with 94 cases in the SGJY+ MP group and 99 cases in the placebo+ MP group. A total of 183 patients completed the 6-week trial, including 89 cases in the SGJY+ MP group and 94 cases in the placebo+ MP group. A total of 198 patients were included in the safety analysis set, including 99 cases in the SGJY+ MP group and 99 cases in the placebo+ MP group.After treatment, the total FD symptom scores of the SGJY+ MP group and the placebo+ MP group were both lower than those of baseline before treatment (3.71±3.06 vs. 11.79±5.18 and 4.17±3.69 vs. 11.19±5.05), and the differences were both statistically significant ( t=-24.87 and -23.27, both P<0.001). The efficacy of the SGJY+ MP group was higher than that of the placebo+ MP group (86.5%, 77/89 vs. 74.5%, 70/94), and the difference was statistically significant ( χ2=4.69, P=0.030). The efficacy of patients with moderate-to-severe anxiety and depression in the SGJY+ MP group was both higher than that of patients in the placebo+ MP group (10/10 vs. 3/7, 85.0%, 17/20 vs. 8/14), and the differences were statistically significant ( χ2=5.66 and 5.33, P=0.017 and 0.010). The efficacy of patients with postprandial distress syndrome (PDS) subtype in the SGJY+ MP group was higher than that of patients in the placebo+ MP group (93.0%, 53/57 vs. 76.5%, 39/51), and the difference was statistically significant (χ 2=5.82, P=0.016). The PHQ-9 scores of patients with depression in both SGJY+ MP and placebo+ MP groups were lower than those at baseline before treatment (3.63±2.76 vs. 7.87±2.24 and 3.35±2.51 vs. 7.63±2.25), and the differences were statistically significant ( t=-14.88 and -15.87, both P<0.001). There was no significant difference in proportion of depressed patients with a ≥50% reduction in PHQ-9 scores from baseline value between the SGJY+ MP group and the placebo+ MP group (60.2%, 50/83 vs. 62.8%, 54/86; χ2=0.05, P=0.825). The GAD-7 scores of anxious patients both the SGJY+ MP group and the placebo+ MP group were lower than the baseline value before treatment (3.27±2.57 vs. 7.09±2.08 and 3.86±2.49 vs. 6.84±1.66), and the differences were statistically significant ( t=-13.30 and -11.47, both P<0.001). The proportion of anxious patients with a ≥50% reduction in GAD-7 scores from baseline in the SGJY+ MP group was higher than that of the placebo+ MP group (54.4%, 43/79 vs. 36.5%, 27/74), and the difference was statistically significant ( χ2=4.53, P=0.033). There were no serious adverse events in both the SGJY+ MP group and the placebo+ MP group during the treatment. There were no significant differences in the incidence of adverse events and adverse reactions during the treatment between the SGJY+ MP group and the placebo+ MP group (7.1%, 7/99 vs. 5.1%, 5/99, and 3.0%, 3/99 vs. 3.0%, 3/99, respectively; both P>0.05). Conclusion:SGTY can safely and effectively improve the efficacy of the prokinetic drugs in the treatment of FD symptoms, especially in FD patients with PDS subtype or with moderate-to-severe anxiety and with depression.
10.Efficacy and safety of Shugan Jieyu capsule combined with mosapride in the treatment of functional dyspepsia: a multicenter, randomized, double-blind, placebo-controlled trial
Ping XU ; Biyu WU ; Bin ZHAO ; Weiwu SHI ; Xuefeng ZHANG ; Shujun LIU ; Lina MENG ; Caihua WANG ; Rongyuan QIU ; Jie WU ; Xuanping XIA ; Xiujuan YAN ; Shengliang CHEN
Chinese Journal of Digestion 2024;44(10):671-678
Objective:To evaluate the efficacy and safety of mosapride citrate dispersible tablet (MP) combined with Shugan Jieyu capsule (SGJY) in the treatment of functional dyspepsia (FD).Methods:From April 2018 to January 2019, FD patients from 10 hospitals including Renji Hospital, Shanghai Jiaotong University School of Medicine, Luohe Hospital of Traditional Chinese Medicine, the Second Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Handan Hospital of Traditional Chinese Medicine and Nanshi Hospital of Nanyang were selected for a randomized, double-blind, placebo-controlled trial. The patient health questionnaire-9 (PHQ-9) and generalized anxiety disorder-7 (GAD-7) were used to assess depression and anxiety in FD patients, respectively. According to the random number table method, 200 FD patients who met the inclusion criteria were randomly divided into SGJY+ MP group and placebo+ MP group, with 100 patients in each group, and all the patients were given oral MP. The patients of the SGJY+ MP group and the placebo+ MP group were given oral SGJY or placebo on the basis of MP, respectively. The patients of both groups were treated continuously for 6 weeks. Total FD symptom scores, PHQ-9 and GAD-7 scores, as well as efficiency and safety were evaluated after treatment. Independent samples t-test and chi-square test were used for statistical analysis. Results:A total of 193 patients were included into the full analysis set with 94 cases in the SGJY+ MP group and 99 cases in the placebo+ MP group. A total of 183 patients completed the 6-week trial, including 89 cases in the SGJY+ MP group and 94 cases in the placebo+ MP group. A total of 198 patients were included in the safety analysis set, including 99 cases in the SGJY+ MP group and 99 cases in the placebo+ MP group.After treatment, the total FD symptom scores of the SGJY+ MP group and the placebo+ MP group were both lower than those of baseline before treatment (3.71±3.06 vs. 11.79±5.18 and 4.17±3.69 vs. 11.19±5.05), and the differences were both statistically significant ( t=-24.87 and -23.27, both P<0.001). The efficacy of the SGJY+ MP group was higher than that of the placebo+ MP group (86.5%, 77/89 vs. 74.5%, 70/94), and the difference was statistically significant ( χ2=4.69, P=0.030). The efficacy of patients with moderate-to-severe anxiety and depression in the SGJY+ MP group was both higher than that of patients in the placebo+ MP group (10/10 vs. 3/7, 85.0%, 17/20 vs. 8/14), and the differences were statistically significant ( χ2=5.66 and 5.33, P=0.017 and 0.010). The efficacy of patients with postprandial distress syndrome (PDS) subtype in the SGJY+ MP group was higher than that of patients in the placebo+ MP group (93.0%, 53/57 vs. 76.5%, 39/51), and the difference was statistically significant (χ 2=5.82, P=0.016). The PHQ-9 scores of patients with depression in both SGJY+ MP and placebo+ MP groups were lower than those at baseline before treatment (3.63±2.76 vs. 7.87±2.24 and 3.35±2.51 vs. 7.63±2.25), and the differences were statistically significant ( t=-14.88 and -15.87, both P<0.001). There was no significant difference in proportion of depressed patients with a ≥50% reduction in PHQ-9 scores from baseline value between the SGJY+ MP group and the placebo+ MP group (60.2%, 50/83 vs. 62.8%, 54/86; χ2=0.05, P=0.825). The GAD-7 scores of anxious patients both the SGJY+ MP group and the placebo+ MP group were lower than the baseline value before treatment (3.27±2.57 vs. 7.09±2.08 and 3.86±2.49 vs. 6.84±1.66), and the differences were statistically significant ( t=-13.30 and -11.47, both P<0.001). The proportion of anxious patients with a ≥50% reduction in GAD-7 scores from baseline in the SGJY+ MP group was higher than that of the placebo+ MP group (54.4%, 43/79 vs. 36.5%, 27/74), and the difference was statistically significant ( χ2=4.53, P=0.033). There were no serious adverse events in both the SGJY+ MP group and the placebo+ MP group during the treatment. There were no significant differences in the incidence of adverse events and adverse reactions during the treatment between the SGJY+ MP group and the placebo+ MP group (7.1%, 7/99 vs. 5.1%, 5/99, and 3.0%, 3/99 vs. 3.0%, 3/99, respectively; both P>0.05). Conclusion:SGTY can safely and effectively improve the efficacy of the prokinetic drugs in the treatment of FD symptoms, especially in FD patients with PDS subtype or with moderate-to-severe anxiety and with depression.


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