1.Background, design, and preliminary implementation of China prospective multicenter birth cohort
Si ZHOU ; Liping GUAN ; Hanbo ZHANG ; Wenzhi YANG ; Qiaoling GENG ; Niya ZHOU ; Wenrui ZHAO ; Jia LI ; Zhiguang ZHAO ; Xi PU ; Dan ZHENG ; Hua JIN ; Fei HOU ; Jie GAO ; Wendi WANG ; Xiaohua WANG ; Aiju LIU ; Luming SUN ; Jing YI ; Zhang MAO ; Zhixu QIU ; Shuzhen WU ; Dongqun HUANG ; Xiaohang CHEN ; Fengxiang WEI ; Lianshuai ZHENG ; Xiao YANG ; Jianguo ZHANG ; Zhongjun LI ; Qingsong LIU ; Leilei WANG ; Lijian ZHAO ; Hongbo QI
Chinese Journal of Perinatal Medicine 2024;27(9):750-755
China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.
2.Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+ 0" genotype
Shaoying LI ; Jianchun HE ; Wenzhi HE ; Jiajia XIAN ; Lingling HUANG ; Gengye ZHAO ; Xin ZHANG ; Renqian DU ; Liming CHU ; Yueqiang WANG ; Lingyin KONG ; Bo LIANG ; Qing LI
Chinese Journal of Medical Genetics 2024;41(3):294-299
Objective:To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+ 0.Methods:A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus. Subsequently, next-generation sequencing (NGS), molecular tagging linkage analysis, and chromosomal microarray analysis were employed to determine the haplotypes and validate the result of PGT-M on the 11 embryos derived for the couple. Results:The female partner was identified as a carrier of the rare SMN1[2+ 0] variant, and prenatal diagnosis confirmed the fetus to be affected by SMA. Ultimately, PGT-M has successfully selected four embryos free from the pathogenic SMN1 variants and X chromosome deletion. Conclusion:PGT-M can effectively prevent the transmission of rare genetic variants such as the SMA 2+ 0 subtype in the families. Above finding has provided guidance for genetic counseling and family planning for the couple.
3.Clinical effect of upper eyelid lifting combined with orbicularis oculi muscle treatment by subbrow incision for upper eyelid skin relaxation
Yong DONG ; Wenzhi LI ; Huang LIN ; Xinliang CHEN
Chinese Journal of Medical Aesthetics and Cosmetology 2024;30(3):282-285
Objective:To explore the application effect of eyebrow lift combined with periorbital muscle manipulatation in the treatment of upper eyelid skin relaxation.Methods:From February 2017 to June 2022, a total of 52 female patients with upper eyelid skin laxity aged 38-64 (43.2±5.0) years, admitted to the Department of Plastic Surgery and Laser Medicine, Beijing Anzhen Hospital were selected for treatment in eyebrow lift with sub-brow excision, removed excess skin and orbicularis oculi muscle, and cut off part of periorbital muscle, and the orbicularis orbicularis muscle at the lower edge of the incision was suspend and fixed to the periosteum of supraorbital margin.Results:After following up from 6 months to 1 year after surgery, the upper eyelid slack and crow′s feet of 52 patients were improved significantly, no obvious downward movement appeared in the eyebrows, and the surgical effect was satisfied.Conclusions:The treatment of upper eyelid skin relaxation in eyebrow lift combined with periorbital muscle manipulatation can significantly improve the upper eyelid slack and crow′s feet, and it is worthy of clinical application.
4.PCR-based capillary electrophoresis(PCR/CE)for genetic detection of SMN 1 and SMN 2
Shaoying LI ; Jianchun HE ; Gengye ZHAO ; Jiajia XIAN ; Lingling HUANG ; Wenzhi HE ; Xiaoyan MA ; Huimin ZHANG ; Mincong ZHANG ; Qing LI
The Journal of Practical Medicine 2023;39(23):3127-3131
Objective To establish a PCR-based capillary electrophoresis(PCR/CE)to detect Survival Motor Neuron 1(SMN1)and Survival Motor Neuron 2(SMN2)genes and to evaluate its performance.Methods PCR/CE and Multiplex Ligation-dependent Probe Amplification(MLPA)for SMA gene diagnosis were used to blindly test the samples in sync.The performance of PCR/CE was assessed using MLPA results as the standard.Results A total of 336 samples were included in this study,consisting of 50 homozygous deletion types(14.9%),65 heterozygous deletion types(19.3%),and 221 non-deletion types(65.8%).The results of PCR/CE for detect-ing SMN1 and SMN2 copy numbers(0,1,2,3,≥4)were in complete agreement with the results of the MLPA.Conclusions PCR/CE for gene testing related to SMA could accurately detect copy numbers of exon 7 and exon 8 of the SMN1 and SMN2 genes(0,1,2,3,≥4).
5.Relationship between childhood maltreatment and insomnia in middle school students: a moderated mediation model
Yingxu SONG ; Jian WEN ; Junlin WU ; Shuwen WEN ; Menghan HAO ; Junlin QIU ; Wenzhi HE ; Guoping HUANG
Sichuan Mental Health 2023;36(2):156-161
ObjectiveTo clarify the relationship between childhood maltreatment and insomnia in middle school students, and to explore the mediating role of post-traumatic stress disorder (PTSD) symptoms and the moderating role of mental resilience involvement. MethodsFrom April to May 2021, a total of 3 412 students in 3 middle schools in a city in western China were selected using convenient sampling method, and all students were assessed by Childhood Trauma Questionnaire (CTQ), Post Traumatic Stress Disorder Scale (PCL), Insomnia Severity Index (ISI) and mental resilience scale. The moderated mediating effect analysis was conducted using Process v3.4. ResultsAmong the middle school students, CTQ scores were positively correlated with PCL and ISI scores (r=0.540, 0.320, P<0.05), and the scores of CTQ, PCL and ISI were negatively correlated with the score of mental resilience scale (r=-0.049, -0.193, -0.132, P<0.05). PTSD symptoms exhibited a partial mediating effect on the relationship between general childhood maltreatment and insomnia (β=0.161, P<0.05), accounting for 80.5% of the total effect. ConclusionAmong the middle school students, the relationship between childhood maltreatment and insomnia is partially mediated via PTSD symptoms, and mental resilience exerts a moderating role between childhood maltreatment and PTSD symptoms.
6.A novel biological sources consistency evaluation method reveals high level of biodiversity within wild natural medicine: A case study of Amynthas earthworms as "Guang Dilong".
Zhimei XING ; Han GAO ; Dan WANG ; Ye SHANG ; Tenukeguli TULIEBIEKE ; Jibao JIANG ; Chunxiao LI ; Hong WANG ; Zhenguo LI ; Lifu JIA ; Yongsheng WU ; Dandan WANG ; Wenzhi YANG ; Yanxu CHANG ; Xiaoying ZHANG ; Liuwei XU ; Chao JIANG ; Luqi HUANG ; Xiaoxuan TIAN
Acta Pharmaceutica Sinica B 2023;13(4):1755-1770
For wild natural medicine, unanticipated biodiversity as species or varieties with similar morphological characteristics and sympatric distribution may co-exist in a single batch of medical materials, which affects the efficacy and safety of clinical medication. DNA barcoding as an effective species identification tool is limited by its low sample throughput nature. In this study, combining DNA mini-barcode, DNA metabarcoding and species delimitation method, a novel biological sources consistency evaluation strategy was proposed, and high level of interspecific and intraspecific variations were observed and validated among 5376 Amynthas samples from 19 sampling points regarded as "Guang Dilong" and 25 batches of proprietary Chinese medicines. Besides Amynthas aspergillum as the authentic source, 8 other Molecular Operational Taxonomic Units (MOTUs) were elucidated. Significantly, even the subgroups within A. aspergillum revealed here differ significantly on chemical compositions and biological activity. Fortunately, this biodiversity could be controlled when the collection was limited to designated areas, as proved by 2796 "decoction pieces" samples. This batch biological identification method should be introduced as a novel concept regarding natural medicine quality control, and to offer guidelines for in-situ conservation and breeding bases construction of wild natural medicine.
7.Construction and effectiveness evaluation of a combined diet and exercise program for puerperal women with Yin-deficiency constitution based on traditional Chinese medicine constitution identification
Shiying CAI ; Jue LI ; Jie LI ; Min CHEN ; Ling CHEN ; Shijie HUANG ; Zhiyuan TIAN ; Wenzhi CAI
Chinese Journal of Modern Nursing 2023;29(16):2145-2151
Objective:To construct a combined diet and exercise program for puerperal women with Yin-deficiency constitution based on traditional Chinese medicine (TCM) constitution identification, and evaluate the effect of this program.Methods:This study was guided by the complex intervention development framework of the UK Research Council, and based on the TCM constitution identification, and determined the combined diet and exercise program for puerperal women with Yin-deficiency constitution based on TCM constitution identification through literature review, case analysis, group discussion, and Delphi method. From October to December 2022, convenience sampling was used to select 76 delivery women with Yin-deficiency constitution who delivered at Shenzhen Hospital of Southern Medical University as the research subject. According to the delivery time, the delivery women were divided into a control group ( n=37) and an experimental group ( n=39). The control group adopted routine postpartum nursing. On this basis, the experimental group implemented the combined diet and exercise program for puerperal women with Yin-deficiency constitution based on TCM constitution identification. We compared the Yin-deficiency constitution score, duration of lochia, and incidence of puerperium complications between two groups of delivery women before and after intervention. Results:The final constructed program included 6 primary indicators, 20 secondary indicators, and 50 tertiary indicators. In the two rounds of consultation, the positivity coefficients of experts were all 100%, the authority coefficients of experts were 0.827 and 0.843, and the Kendall harmony coefficients were 0.419 and 0.502, respectively with a statistical difference ( P<0.01). After intervention, the score of Yin-deficiency constitution, duration of lochia, and incidence of puerperium complications in the experimental group were lower than those in the control group, and the differences were statistically significant ( P<0.05) . Conclusions:The combined diet and exercise program for puerperal women with Yin-deficiency constitution based on TCM constitution identification is scientific, comprehensive, and feasible, which can provide reference for future development of TCM constitution management during the puerperium.
8.Comparative analysis of blood components distribution in 24 domestic prefecture-level blood stations
Cheng PENG ; Guanlin HU ; Li LI ; Zhenxing WANG ; Jinghan ZHANG ; Yugen CHENG ; Liping HUANG ; Qiuhong MUO ; Yang LIU ; Wenzhi WANG ; Haining WANG ; Hao LI ; Youhua SHEN ; Xiaojuan YANG ; Guoqian YANG ; Ling WU ; Feng YAN ; Ning LI ; Jing LIU ; Lin BAO ; Mengshang ZHANG ; Jing CUI ; Zhujun FU ; Helong GUO ; Shutao PANG
Chinese Journal of Blood Transfusion 2022;35(9):942-946
【Objective】 To understand the current situation of blood components distribution in domestic prefecture-level blood stations through analyzing the components distribution data of 24 prefecture-level blood stations in China. 【Methods】 The data of components distribution of 24 blood stations from 2017 to 2020 as well as the data of blood deployment of 24 blood stations from 2019 to 2020 were collected and analyzed. 【Results】 From 2017 to 2020, positive annual growth in red blood cells, plasma and cryoprecipitate was observed in 22, 19 and 15 out of the 24 blood stations, and the annual growth median rate of above three components was 5.24%, 3.80% and 3.25%, respectively. Among the 24 prefecture-level blood stations, 23 carried out the preparation of cryoprecipitate. 【Conclusion】 The distribution of red blood cells, cryoprecipitate and plasma in prefecture-level blood stations is increasing year by year. However, there is a overstock of plasma, and most blood stations need blood employment.
9.Mediating effect of insomnia in the relationship between childhood trauma and suicide risk in middle school students
Wenzhi HE ; Jian WEN ; Yao WANG ; Junlin WU ; Shuwen WEN ; Hudan CHEN ; Junlin QIU ; Yingxu SONG ; Lijun LIANG ; Guoping HUANG
Chinese Journal of Behavioral Medicine and Brain Science 2022;31(4):359-365
Objective:To explore the mediating role of insomnia between childhood trauma and suicide risk in middle school students.Methods:Childhood trauma questionnaire(CTQ), insomnia severity index(ISI) and suicidal behaviors questionnaire-revised(SBQ-R) were used to investigate 3 442 middle school students.According to the total score of the SBQ-R, those who scored less than or equal to 6 were divided into low suicide risk group, and those who scored more than or equal to 7 were divided into high suicide risk group.In this study, there were 2 168 students in the low suicide risk group and 1 274 students in the high suicide risk group.SPSSAU 21.0 online statistical software was used for common method deviation test, descriptive statistics, variance analysis and correlation analysis, and structural equation model was constructed, and Bootstrap method was used for mediation effect test.Results:(1) There were statistically significant differences between the high suicide risk group and the low suicide risk group in terms of grade and gender( χ2=11.144, 83.737, both P<0.05), and there were statistically significant differences in the types of childhood trauma and the severity of insomnia( χ2=292.211, 333.998, both P<0.05). (2) The total score of childhood trauma in the high suicide risk group (43.92±10.50) was higher than that in the low suicide risk group (37.74±6.93) ( F=351.78, P<0.01), and the score of insomnia in the high suicide risk group (10.66±5.54) was higher than that in the low suicide risk group (7.04±4.76) ( F=379.25, P<0.01). (3)The total score of childhood trauma was positively correlated with the score of suicide risk ( r=0.415, P<0.01), and the total score of childhood trauma was positively correlated with the score of insomnia ( r=0.306, P<0.01), and the score of insomnia was significantly positively correlated with the score of suicide risk ( r=0.399, P<0.01). After controlling for demographic data, anxiety and depression, the correlation was still significant ( P<0.01). (4) Path analysis and mediation test showed that childhood trauma had a positive effect on insomnia ( β=0.30, P<0.01), insomnia had a positive effect on suicide risk ( β=0.29, P<0.01), and childhood trauma had a positive effect on suicide risk ( β=0.33, P<0.01). The mediating effect of insomnia accounted for 21.21% of the total effect.After controlling for demographic data, anxiety and depression, the mediating effect accounted for 10.66% of the total effect. Conclusion:Childhood trauma and insomnia have a significant impact on the suicide risk among middle school students.Insomnia plays a partial mediating role between childhood trauma and middle school students' suicide risk.Timely management of the sleep disturbances of traumatized individuals can reduce the suicide risk among middle school students.
10.Predictive value of 18F-FDG PET/CT for anti-MDA5 antibody and prognosis of dermatomyositis
Jiajin LI ; Yumei CHEN ; Xuesong LIU ; Wenzhi JIA ; Ruixue ZHANG ; Shuxian AN ; Cheng WANG ; Liangrong WAN ; Haiqin BAO ; Yi XIONG ; Gang HUANG ; Jianjun LIU
Chinese Journal of Nuclear Medicine and Molecular Imaging 2022;42(1):17-21
Objective:To assess the imaging characteristics of muscle FDG metabolism, tumor incidence, and pulmonary interstitial changes in patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibody positivity in 18F-FDG PET/CT imaging, and the value of 18F-FDG PET/CT in differentiating anti-MDA5 antibody positive dermatomyositis. Methods:From June 2016 to July 2019, the PET/CT images of 75 patients with dermatomyositis (21 males, 54 females, age (52.3±14.3) years; 34 anti-MDA5 antibody positive and 41 anti-MDA5 antibody negative) and 30 healthy controls (10 males, 20 females; age (53.5±11.8) years) were retrospectively analyzed in Renji Hospital, School of Medicine, Shanghai Jiao Tong University. The SUV max of muscle was measured and the mean of SUV max (mSUV max) was calculated. Statistics of patients with dermatomyositis complicated with neoplastic lesions and the SUV max of pneumonia lesions in patients with dermatomyositis complicated with interstitial pneumonia was determined. Independent sample t test, one-way analysis of variance, Student-Newman-Keuls (SNK) test and χ2 test were used to analyze data. The ROC curve analysis was used to analyze the diagnostic efficacy of mSUV max for the differential diagnosis of anti-MDA5 antibody positive dermatomyositis. Results:The muscle mSUV max of the control group, anti-MDA5 antibody positive and negative groups were 0.39±0.05, 0.66±0.21 and 0.87±0.29 ( F=39.93, P<0.001), respectively. The muscle mSUV max of dermatomyositis patients was increased compared with healthy controls ( q values: 6.76, 12.63, both P<0.001), and the muscle mSUV max of anti-MDA5 antibody negative was higher than positive ( q=5.79, P<0.001). The AUC was 0.74, and the cut-off value of muscle mSUV max was 0.75 with the accuracy of 74.7%(56/75). Of 41 patients with negative anti-MDA5 antibody, there were 6 (14.6%) had malignant tumor, while there was no malignant tumor in patients with positive anti-MDA5 antibody (0/34; χ2=5.41, P=0.020). There were 11 patients (26.8%, 11/41) with anti-MDA5 antibody negative dermatomyositis complicated with interstitial pneumonia and 33 patients (97.1%, 33/34) with anti-MDA5 antibody positive dermatomyositis complicated with interstitial pneumonia ( χ2=37.81, P<0.001). FDG metabolism in anti-MDA5 antibody positive patients was higher than that in anti-MDA5 antibody negative patients (lesion SUV max: 3.65±1.83 and 2.38±1.27; t=2.13, P=0.039). Conclusions:The muscle FDG metabolism of anti-MDA5 antibody positive dermatomyositis patients is higher than that of healthy controls, but lower than that of anti-MDA5 antibody negative patients. The incidence of neoplastic lesions in patients with positive anti-MDA5 antibody is lower than that in patients with negative anti-MDA5 antibody. The proportion and severity of interstitial pneumonia are higher in patients with positive anti-MDA5 antibody than in those with negative anti-MDA5 antibody. 18F-FDG PET/CT has certain value on identifying anti-MDA5 antibody positive dermatomyositis.

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