1.Prenatal diagnosis of a fetus with mosaicism ring chromosome 2
Ying ZHOU ; Lingling XU ; Lulu YAN ; Changshui CHEN ; Haibo LI
Chinese Journal of Medical Genetics 2024;41(11):1356-1362
Objective:To explore the genetic basis for a fetus with increased risk for Down syndrome and cardiac anomalies discovered by prenatal ultrasonography.Methods:A pregnant woman presented at the Women and Children′s Hospital of Ningbo University on August 21, 2023 were selected as the study subject. Clinical data were retrospectively analyzed. Maternal peripheral blood sample was collected for non-invasive prenatal testing (NIPT) based on fetal free DNA. Amniotic fluid sample was collected for G-banded chromosomal karyotyping analysis. Trio-whole exome sequencing (WES) was also carried out on the amniotic fluid sample and peripheral blood samples from the couple. Copy number variation (CNV) identified by the WES was validated by real-time fluorescent quantitative PCR (qPCR). Chromosomal karyotyping was also carried out for the couple. This study has been approved by the Medical Ethics Committee of Women and Children′s Hospital of Ningbo University (No. EC2020-048).Results:Ultrasound examination at 22 + 6 gestational weeks had indicated intrauterine growth retardation (IUGR). The fetus was also found to have ventricular septal defect, overriding aorta and pulmonary stenosis. NIPT indicated a low risk for aneuploidy of chromosomes 13, 18 and 21. G-banding analysis revealed that the fetus had a karyotype of 45, XY, -2[5]/46, XY, r(2)(p25q37)[55]. WES has identified a deletion of approximately 1 614.28 kb in the 2p25.3 region, namely seq[hg38]del(2)(p25.3p25.3)chr2: g.10500_1624775del. The same deletion was found in neither parent, suggesting a de novo origin. qPCR results confirmed the expression of target genes in the fetal sample to be significantly reduced, whilst no similar anomaly was found in either parent. Conclusion:The mosaicism ring chromosome 2 probably underlay the IUGR and cardiovascular malformations in this fetus.
2.Epidemic characteristics of mycoplasma pneumoniae infection and drug-resistant gene mutations in hospitalized children aged 0-17 in Ningbo City from 2019 to 2023
Bibo MAO ; Daina CHEN ; Wenbo LU ; Chunyan LIU ; Zhuoling LI ; Changshui CHEN ; Haiyan QIU ; Wenyuan LIU
Chinese Journal of Preventive Medicine 2024;58(7):1035-1040
To analyze the infection and drug-resistant gene 23S rRNA mutations of mycoplasma pneumoniae (Mp) in hospitalized children aged 0-17 in Ningbo City from 2019 to 2023. Throat swabs were collected from hospitalized children with respiratory tract infections in Ningbo University Affiliated Women and Children′s Hospital from 2019 to 2023. They were subjected to real-time fluorescence quantitative polymerase chain reaction detection to analyze Mp infection and drug-resistant gene (23S rRNA) mutations. Intergroup comparisons were made by the Chi-square test or Fisher′s exact probability method. A total of 18 968 hospitalized children were included, with a total positive rate of 30.37% (5 760/18 968). The total positive rate of drug-resistant gene mutations was 82.45% (4 749/5 760). The positive rate of Mp in male children was 29.26%, which was lower than that in female children (31.67%, χ 2=12.948, P<0.001). The positive rate of Mp drug-resistant gene mutations in male children was 82.52%, which was higher than that in female children(82.37%, χ 2=0.021, P=0.885). The positive rates of Mp increased with age ( χ 2=1 722.21, P<0.001). The positive rates of Mp drug-resistant gene mutations also increased with age ( χ 2=13.152, P<0.001). In the four seasons, the total positive rate of Mp in summer and autumn was significantly higher than that in winter and spring ( χ 2=1 085.149, P<0.001). Among them, the Mp positive rates in the summer and autumn of 2019 were as high as 38.26% and 34.49%, while in the summer and autumn of 2020, the Mp positive rates were 2.55% and 1.65%, respectively, which were the lowest in previous years. In the summer and autumn of 2023, the Mp positive rates increased to 47.22% and 51.06%. There was no statistically significant difference in the detection rate of Mp drug-resistant gene mutations among the four seasons. In Conclusion, Mp infection was more prevalent in the summer and autumn in Ningbo city and females and children aged 7-17 were more susceptible. The epidemic of Mp infection in Ningbo occurred in the summer of 2019. After the COVID-19 pandemic in 2020, the positive rate of Mp rapidly decreased and later remained in a low incidence state. After the lifting of restrictive prevention and control measures in 2023, the Mp positive rate returned to an epidemic state. The positive rate of Mp drug-resistant gene (23S rRNA) mutations was relatively high.
3.Epidemic characteristics of mycoplasma pneumoniae infection and drug-resistant gene mutations in hospitalized children aged 0-17 in Ningbo City from 2019 to 2023
Bibo MAO ; Daina CHEN ; Wenbo LU ; Chunyan LIU ; Zhuoling LI ; Changshui CHEN ; Haiyan QIU ; Wenyuan LIU
Chinese Journal of Preventive Medicine 2024;58(7):1035-1040
To analyze the infection and drug-resistant gene 23S rRNA mutations of mycoplasma pneumoniae (Mp) in hospitalized children aged 0-17 in Ningbo City from 2019 to 2023. Throat swabs were collected from hospitalized children with respiratory tract infections in Ningbo University Affiliated Women and Children′s Hospital from 2019 to 2023. They were subjected to real-time fluorescence quantitative polymerase chain reaction detection to analyze Mp infection and drug-resistant gene (23S rRNA) mutations. Intergroup comparisons were made by the Chi-square test or Fisher′s exact probability method. A total of 18 968 hospitalized children were included, with a total positive rate of 30.37% (5 760/18 968). The total positive rate of drug-resistant gene mutations was 82.45% (4 749/5 760). The positive rate of Mp in male children was 29.26%, which was lower than that in female children (31.67%, χ 2=12.948, P<0.001). The positive rate of Mp drug-resistant gene mutations in male children was 82.52%, which was higher than that in female children(82.37%, χ 2=0.021, P=0.885). The positive rates of Mp increased with age ( χ 2=1 722.21, P<0.001). The positive rates of Mp drug-resistant gene mutations also increased with age ( χ 2=13.152, P<0.001). In the four seasons, the total positive rate of Mp in summer and autumn was significantly higher than that in winter and spring ( χ 2=1 085.149, P<0.001). Among them, the Mp positive rates in the summer and autumn of 2019 were as high as 38.26% and 34.49%, while in the summer and autumn of 2020, the Mp positive rates were 2.55% and 1.65%, respectively, which were the lowest in previous years. In the summer and autumn of 2023, the Mp positive rates increased to 47.22% and 51.06%. There was no statistically significant difference in the detection rate of Mp drug-resistant gene mutations among the four seasons. In Conclusion, Mp infection was more prevalent in the summer and autumn in Ningbo city and females and children aged 7-17 were more susceptible. The epidemic of Mp infection in Ningbo occurred in the summer of 2019. After the COVID-19 pandemic in 2020, the positive rate of Mp rapidly decreased and later remained in a low incidence state. After the lifting of restrictive prevention and control measures in 2023, the Mp positive rate returned to an epidemic state. The positive rate of Mp drug-resistant gene (23S rRNA) mutations was relatively high.
4.Effects of problem-based learning versus lecture-based learning in teaching of rehabilitation medicine in China: a Meta-analysis
Li ZHANG ; Zhanbo ZHAO ; Changshui WENG
Chinese Journal of Medical Education Research 2018;17(4):349-355
Objective To compare problem-based learning (PBL) versus lecture-based learning (LBL) in the teaching of rehabilitation medicine in China.Methods All Chinese articles on PBL and LBL in teaching of rehabilitation medicine courses indexed in CBMdisc,Wanfang database,CNKI database,and Google academic search published prior to October 2017 were included.The methodological quality of the selected studies was assessed with'Cochrane Quality Evaluation Standard'.Meta analyses were performed using RevMan 5.3.Results After exclusion of non-eligible citations,a total of 18 documents involving 1943 subjects were satisfied the criteria and were included in this review.Meta-analyses revealed that PBL had a significant improvements on theoretical knowledge examination scores (MD=9.26,95%CI=5.24 to 13.29),practical skills examination scores (MD=12.11,95%CI=5.17 to 19.06),performance excellent rate (RR=3.90,95%CI=2.10 to 7.26),and patient satisfaction rate (RR=8.98,95%CI=4.23 to 19.07) (P<0.05) among students compared with LBL in teaching of rehabilitation.Conclusion In this meta analysis,PBL is superior to LBL and worthy popularizing in teaching of rehabilitation.
5.Effects of transcranial magnetic stimulation on the cognitive ability of patients with cognitive impairment after cerebral venous thrombosis
Gang LI ; Liuyi LI ; Jia SONG ; Mi PANG ; Mingming MA ; Changshui XU ; Jiewen ZHANG
Chinese Journal of Physical Medicine and Rehabilitation 2017;39(5):327-331
Objective To explore any effect of repetitive transcranial magnetic stimulation (rTMS) on the cognitive ability of patients suffering from cognitive impairment after cerebral venous thrombosis (CVT).Methods Forty-three CVT patients with cognitive impairment were recruited and randomly assigned into an rTMS group (n =23) or a control group (n=20).Both groups received routine drug therapy and cognitive function training,while the rTMS group was additionally given rTMS.The treatment lasted 4 weeks.The Montreal cognitive assessment (MoCA),the Hamilton depression scale (HAMD),the modified auditory Barthel Index (MBI) and event-related potential P300 were used to test both groups before and after the treatment.Results After the treatment the average MoCA and MBI scores of both groups had increased significantly,while their average HAMD scores had decreased significantly compared to before the treatment.For both groups,the P300 latency had shortened significantly and the amplitude increased significantly after the treatment.The improvement in all of these indicators was significantly greater in the rTMS group than in the control group.Conclusion Supplementing drug therapy with rTMS can significantly improve the cognitive ability of CVT patients and is worth applying in clinical practice.
6.Expression of CD10 in tumor-associated fibroblast of cancerized or recurrent colorectal adenomas.
Jiangjiang ZHENG ; Yin ZHU ; Changshui LI ; Yinya LI ; Qianqian NIE ; Ziling ZHU ; Hong DENG
Journal of Zhejiang University. Medical sciences 2016;45(4):335-341
To investigate the expression of CD10 in tumor-associated fibroblasts (TAF) in colorectal adenomas and its relation to cancerization and recurrence of adenoma.Tissue samples of low-grade adenoma (=50), high-grade adenoma (=50) and colorectal adenocarcinoma (=50) were collected, and tissue samples at the distal margin of corresponding colorectal lesions were taken as controls. The expression of CD10 in the stromal TAFs, and the expressions of β-catenin, Ki-67, p53 and CyclinD1 in tumor cells were detected by immunohistochemistry (Envision). The correlation of CD10 expression in stromal TAFs with the expressions of β-catenin, Ki-67, p53 and CyclinD1 in tumor cells was analyzed by Spearmen. One hundred samples of low-grade colorectal adenoma were collected, including 57 non-recurrent cases and 43 recurrent cases (16 cases of recurrent adenoma and 27 cases of recurrent adenocarcinoma); the expression of stromal TAF CD10 were determined and compared among groups.There was no TAF in normal colorectal mucosa. The expression rates of TAF CD10 in low-grade adenoma, high-grade adenoma and colorectal adenocarcinoma were 22%, 50% and 78%, respectively (all<0.05). The expression of Ki-67 and β-catenin in low-grade adenoma, high-grade adenoma, colorectal adenocarcinoma was on a rising trend (all<0.01). The expression of CyclinD1 in high-grade adenoma was higher than that in colorectal adenocarcinoma and low-grade adenoma (all>0.05). The expression of p53 in colorectal adenocarcinoma and high-grade adenoma was higher than that in low grade adenoma (all<0.01). The expression of TAF CD10 was correlated with the expression of p53, Ki-67 and β-catenin-nucleus(=0.264、0.307、0.320, all<0.01),but not correlated with CyclinD1 and β-catenin-membrane (=0.012、-0.073, all>0.05). The TAF CD10 level was significantly higher in low-grade adenoma with recurrence than that in those without recurrence (<0.05).The expression of CD10 in recurrent colorectal adenocarcinoma was higher than that in recurrent adenoma (<0.05).The expression of TAF CD10 is increased gradually in the process of adenoma-cancer, indicating that it may play an important role in the canceration of adenoma. Adenomas with high expression of CD10 TAF are likely to be recurrent and cancerized, and detection of TAF CD10 combined with p53, Ki-67 and β-catenin may be of value in predicting canceration or recurrence of colorectal adenoma.
Adenocarcinoma
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chemistry
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genetics
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Adenoma
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chemistry
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genetics
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Biomarkers, Tumor
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analysis
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Cancer-Associated Fibroblasts
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chemistry
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Carcinogenesis
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chemistry
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Colorectal Neoplasms
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chemistry
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genetics
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Cyclin D1
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analysis
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Disease Progression
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Humans
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Immunohistochemistry
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Ki-67 Antigen
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analysis
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Neoplasm Grading
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Neoplasm Recurrence, Local
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chemistry
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Neprilysin
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analysis
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Predictive Value of Tests
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Tumor Suppressor Protein p53
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analysis
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beta Catenin
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analysis
7.Correlation between liver stiffness measured by shear-wave elasticity imaging and pathological grades and stages of chronic hepatitis B
Suya MA ; Guojun LI ; Yiqi YU ; Ping XU ; Lingfei ZHU ; Xiaohong XIE ; Mingyue WU ; Guilan ZOU ; Changshui LI ; Ming ZHAO
Chinese Journal of Infectious Diseases 2015;(9):513-517
Objective To investigate the correlation between Young′s elastic modulus (EI) using shear wave elastography (SWE) and liver pathology .Methods Liver biopsy was performed on 231 patients with chronic hepatitis B (CHB) under supersonic guidance ,and SWE with EI of liver was obtained concurrently .The correlation between measured liver stiffness and pathology was analyzed by using the liver pathology as golden standards .One‐way analysis of variance and Spearman rank correlation analysis were performed for the comparison between groups and correlation between two variables , respectively .Receiver operating characteristic (ROC) curve was used to explore the predictive value of shear modulus for the liver inflammation grades and fibrosis stages .Results The EI medians of different liver inflammation grades were 6 .78 kPa (G1) ,7 .30 kPa (G2) ,9 .93 kPa (G3) and 14 .93 kPa (G4) , respectively ,which were statistically different (H=55 .19 ,P<0 .01) .And EI medians of various fibrosis stages were 6 .62 kPa (S0 -S1) ,7 .15 kPa (S2) ,9 .78 kPa (S3) and 14 .62 kPa (S4) ,respectively , which were also significantly different (H=62 .14 ,P<0 .01) .EI was positively correlated with both liver inflammation grades (r=0 .454 6 ,P<0 .01) and liver fibrosis stages (r=0 .505 6 ,P<0 .01) .The areas under the ROC for G≥2 ,G≥3 and G=4 were 0 .68 (95% CI:0 .61 -0 .75) ,0 .77 (95% CI:0 .70 -0 .84) and 0 .85 (95% CI:0 .77-0 .92) ,respectively .The areas under the ROC for S≥2 ,S≥3 and S=4 w ere 0 .73 (95% C I:0 .66 -0 .79 ) ,0 .78 (95% C I:0 .72 -0 .85 ) and 0 .83 (95% C I:0 .75 -0 .91 ) , respectively .Conclusion The EI measured by SWE is correlated with liver pathology of CHB patients , which may be used to dynamically monitor the progress of liver fibrosis .
8.Advance in Whole-body Vibration in Aging Adults (review)
Chinese Journal of Rehabilitation Theory and Practice 2015;21(2):163-167
Whole-body vibration (WBV) training is a kind of new technology on the practice of rehabilitation medicine and is used to improve muscle strength, mobility, balance, osteoporosis, sarcopenia, metabolic syndrome and osteoarthritis in aging adults. The definition, safety, effectiveness, and biomechanics of WBV training were reviewed in this paper.


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