1.The Genetic Polymorphism and Structural Analysis of 47 Microhaplotypes in a Jiangsu Changshu Chinese Han Population
Kun-Peng PAN ; Yao-Sen FENG ; Wen-Shuai YU ; Zong-Wei LIU ; Yi-Ren YAO ; Jie ZHAO ; Ke-Lai KANG ; Chi ZHANG ; Le WANG ; Jian WU
Progress in Biochemistry and Biophysics 2024;51(2):423-434
ObjectiveTo investigate the genetic polymorphism and structure of 47 autosomal microhaplotypes in the Han population in Changshu City, Jiangsu Province, and to evaluate the forensic efficiencies and forensic parameters. MethodsThe DNA library of unrelated individual samples was prepared according to MHSeqTyper47 kit manual and sequenced on the MiSeq FGx platform. Microhaplotype genotyping and sequencing depth statistics were processed using MHTyper. The genetic information of samples was then evaluated. The fixation index and genetic distance between the Jiangsu Changshu population and the reference populations in the 1000 Genomes Project phase 3 (1KG) were calculated, and forensic parameters were evaluated. ResultsThe fixation index and genetic distance between the Han population in Changshu, Jiangsu, and the CHB (Han Chinese in Beijing, China) reference population in 1KG were the lowest. The effective allele number (Ae) of each locus is also the closest between the two populations. The combined matching probability (CMP) of the Changshu Han population is close to the 5 populations of the East Asian reference super-population in 1KG, which is 1.25×10-36, and the combined probability of exclusion reached 0.999 999 999 964 1. ConclusionThis study reported the genetic polymorphism and allele frequency of 47 microhaplotypes in a Han population in Changshu City, Jiangsu Province. This information provides a data basis for 47 microhaplotypes in forensic applications. In addition, the polymorphism differences between the 1KG reference population and the Han population in Changshu, Jiangsu were compared, and the genetic structure of 47 microhaplotypes in the Han population in Changshu, Jiangsu was revealed. In general, the reference data of the East Asian super-population in 1KG is more in line with the genetic characteristics of Han population in Changshu, Jiangsu.
2.Retrospective cohort analysis of the relationship between correcting abnormal glucose metabolism and controlling the risk of death of digestive system malignant tumors
Yun FAN ; Jie CHI ; Jinyi FAN ; Yinkun WANG ; Xiao ZHENG
Journal of Public Health and Preventive Medicine 2024;35(4):87-90
Objective To investigate the relationship between correcting abnormal glucose metabolism and mortality risk of malignant tumors of digestive system. Methods A retrospective cohort study was conducted. 1308 patients with abnormal glucose metabolism in our hospital from January 2019 were divided into exposed group (n=777) and non-exposed group (n=531) according to the presence or absence of glucose metabolism correction therapy. The patients were retrospectively followed up until December 2022. The incidence of digestive system tumors and the influencing factors of tumors were compared between the two groups. Results There were 31 patients with digestive system tumor and 9 patients died. The incidence of digestive system tumors was lower in the exposed group (3/777) than in the non-exposed group (28/531). The mortality rate in the exposed group (1/777) was lower than that in the non-exposed group (8/531). Cox regression model analysis showed that correcting abnormal glucose metabolism was a protective factor for the risk of death from malignant tumors of the digestive system in patients (HR value<1, P<0.05) ; increased FBG, combined abnormal lipid metabolism, increased pulse pressure difference, family history of malignant tumors, and alcohol consumption were shown as risk factors for the risk of death from malignant tumors of the digestive system in patients (HR values>1, P<0.05). Conclusion Correcting abnormal glucose metabolism is of positive significance in reducing the risk of death from malignant tumors of digestive system. Patients with increased FBG, abnormal lipid metabolism, increased pulse pressure difference, family history of malignant tumors and alcohol consumption should pay special attention to correct abnormal glucose metabolism in time.
3.Experts consensus on standard items of the cohort construction and quality control of temporomandibular joint diseases (2024)
Min HU ; Chi YANG ; Huawei LIU ; Haixia LU ; Chen YAO ; Qiufei XIE ; Yongjin CHEN ; Kaiyuan FU ; Bing FANG ; Songsong ZHU ; Qing ZHOU ; Zhiye CHEN ; Yaomin ZHU ; Qingbin ZHANG ; Ying YAN ; Xing LONG ; Zhiyong LI ; Yehua GAN ; Shibin YU ; Yuxing BAI ; Yi ZHANG ; Yanyi WANG ; Jie LEI ; Yong CHENG ; Changkui LIU ; Ye CAO ; Dongmei HE ; Ning WEN ; Shanyong ZHANG ; Minjie CHEN ; Guoliang JIAO ; Xinhua LIU ; Hua JIANG ; Yang HE ; Pei SHEN ; Haitao HUANG ; Yongfeng LI ; Jisi ZHENG ; Jing GUO ; Lisheng ZHAO ; Laiqing XU
Chinese Journal of Stomatology 2024;59(10):977-987
Temporomandibular joint (TMJ) diseases are common clinical conditions. The number of patients with TMJ diseases is large, and the etiology, epidemiology, disease spectrum, and treatment of the disease remain controversial and unknown. To understand and master the current situation of the occurrence, development and prevention of TMJ diseases, as well as to identify the patterns in etiology, incidence, drug sensitivity, and prognosis is crucial for alleviating patients′suffering.This will facilitate in-depth medical research, effective disease prevention measures, and the formulation of corresponding health policies. Cohort construction and research has an irreplaceable role in precise disease prevention and significant improvement in diagnosis and treatment levels. Large-scale cohort studies are needed to explore the relationship between potential risk factors and outcomes of TMJ diseases, and to observe disease prognoses through long-term follw-ups. The consensus aims to establish a standard conceptual frame work for a cohort study on patients with TMJ disease while providing ideas for cohort data standards to this condition. TMJ disease cohort data consists of both common data standards applicable to all specific disease cohorts as well as disease-specific data standards. Common data were available for each specific disease cohort. By integrating different cohort research resources, standard problems or study variables can be unified. Long-term follow-up can be performed using consistent definitions and criteria across different projects for better core data collection. It is hoped that this consensus will be facilitate the development cohort studies of TMJ diseases.
4.Surgical management of urinary tract mesh/sling exposure after pelvic floor recon-struction:a single center experience
Shuai XU ; Jie ZHANG ; Chi ZHANG ; Liao PENG ; Deyi LUO
Journal of Modern Urology 2024;29(8):691-695
Objective To investigate surgical methods and long-term treatment outcomes of urinary mesh/sling urinary tract exposure after pelvic floor reconstruction.Methods A retrospective analysis was performed for 9 patients admitted to the Department of Urology,West China Hospital of Sichuan University during Nov.2011 and Sep.2020 due to urinary tract exposure to mesh or sling after pelvic floor reconstruction.Results The median age of the 9 patients was 53(39-73)years and the median body mass index was 23.0(19.5-27.3).Six patients underwent transvaginal mesh implantation for pelvic organ prolapse,and the remaining 3 patients underwent mid-urethral sling(MUS)surgery due to urinary incontinence.Of the 6 patients who experienced mesh exposure after transvaginal mesh implantation,3 underwent transvaginal mesh removal,and the remaining 3 cystoscopic holmium laser ablation.Among patients who experienced mesh exposure after mid-urethral sling,2 patients underwent transurethral removal and 1 cystoscopic holmium laser ablation.The median follow-up was 69(16-121)months.At the last follow-up,none of the patients had mesh/sling exposure.Conclusion Both transvaginal and transurethral mesh/sling removal are effective surgical methods for the treatment of urinary tract mesh/sling exposure after pelvic floor reconstruction.
5.Effect of RhoC silencing on migration and invasion of oral squamous cell carcinoma
Jie YANG ; Huan LI ; Xin WANG ; Zhenggang CHEN ; Ying WANG ; Quan LI ; Yingjie HUA ; Jing WANG ; Zengpeng CHI
Chinese Journal of Pathophysiology 2024;40(1):47-57
AIM:To explore the expression of RhoC in oral squamous cell carcinoma(OSCC)and its effects on the malignant biological behavior of OSCC cells.METHODS:The UALCAN and K-M plotter databases,alongside tis-sue sample analyses,facilitated understanding RhoC expression in cancer and its links to clinicopathological traits.Two small interfering RNAs(RhoC-siRNA)were constructed according to the RhoC gene sequence.The mRNA and protein ex-pression levels of RhoC in OSCC cells were determined.The protein levels of FAK,p-FAK,MAPK,p-MAPK,matrix me-talloproteinase-2(MMP-2)and MMP-9 were also examined by Western blot.Furthermore,the invasion and migration of OSCC cells were analyzed by Transwell assay and scratch test.Finally,the pulmonary metastasis model of nude mice was established.RESULTS:The results of the databases showed that RhoC was highly expressed in OSCC tissues,which was closely related to pathological stage,pathological grade and lymph node metastasis,but not significantly related to the sur-vival rate of patients.Furthermore,compared with paracancer tissues,the mRNA and protein expression levels of RhoC were increased in OSCC tissues(P<0.01).Silencing of RhoC prominently reduced the migration and invasion of OSCC cells as well as the protein levels of p-FAK,p-MAPK,MMP2 and MMP9(P<0.05).The protein levels of MAPK and FAK were unchanged(P>0.05).The fluorescence intensity of the experimental group was significantly lower than that of the control group,and the results of HE staining showed that the number of lung nodules in the experimental group was sig-nificantly reduced(P<0.05).CONCLUSION:RhoC can effectively influence the migration and invasion of OSCC cells,and its potential mechanism may be related to FAK/MAPK/MMPs signaling pathway.
6.Evaluating the application efficiency of the MHSeqTyper47 kit in kinship identification
Lishuai TAN ; Xin JIN ; Yaosen FENG ; Kelai KANG ; Wenhua MA ; Mingguang LI ; Chi ZHANG ; Jie ZHAO ; Jian YE ; Le WANG
Chinese Journal of Forensic Medicine 2024;39(1):75-81
Objective To investigate the application value of the MHSeqTyper47 kit in kinship identification.Methods Multiplexed amplification and library preparation were performed for DNA samples from 113 related individuals by using the MHSeqTyper47 kit.The libraries were sequenced on a MiSeq FGx sequencer,and the data were analyzed using MHTyper for microhaplotype genotyping.The kinship indexes were calculated to evaluate the application efficiency of this kit in kinship identification and compared with those of the GlobalFilerTM kit.Results For the MHSeqTyper47 kit,the CPI values in trio identification were 1.43× 1011~6.15×1018.The CPI values in duo identification were 1.02× 105~1.53× 1013.The CFSI values in full sibling identification were 7.73×101~2.59×1016.Trios,duos and full siblings could be completely distinguished from unrelated pairs.The combined efficiency of these two kits in 2nd-degree kinship identification was 0.466 2.Conclusion The application value of MHSeqTyper47 kit is relatively higher in the identification of lst-degree kinships.If jointly used with the GlobalFilerrM kit,2nd-degree kinship identification could be achieved in some cases.
7.A prospective cohort study of leisure activities and declining intrinsic capacity in older adults
Jie ZHANG ; Ji SHEN ; Yuting KANG ; Chi ZHANG ; Jing PANG ; Hongyu LI ; Hong SHI
Chinese Journal of Geriatrics 2024;43(6):739-744
Objective:To investigate the trajectories of intrinsic capacity in older adults and explore the impact of leisure activities on the decline of intrinsic capacity.Methods:This study is a prospective cohort study conducted in a community in Beijing, China.A convenience sampling method was used to select 284 cases of older adults from November to December 2020.The purpose of the study was to gather information on the general conditions, intrinsic abilities(including cognitive, vitality, motor, psychological, and sensory dimensions), and participation in leisure activities of older adults.A 2.5-year follow-up of the respondents was conducted.Results:A total of 243(85.6%, 243/284)respondents completed the 2.5-year follow-up.The follow-up intrinsic capacity score decreased from a baseline level of 4(3, 4)to 3(3, 4)( Z=-4.667, P<0.001).Among the respondents, 113(46.5%, 113/243)older adults showed a decrease in intrinsic capacity, with more significant decreases observed in the locomotor and psychometric dimensions( χ2=16.953, 23.510, both P<0.001).The number of declines in intrinsic ability was higher in the low group of leisure activities compared to the high group[62.2%(56/90) vs.37.3%(57/153), χ2=14.199, P<0.001].There was a positive correlation between leisure activity scores and the follow-up intrinsic capacity score( r=0.200, P=0.002), as well as with the value of change in the score of intrinsic capacity( r=0.146, P=0.023).The results of Logistic regression analysis indicated that leisure activities( OR=0.644, 95% CI: 0.507 to 0.818, P<0.001), physical leisure activities( OR=0.565, 95% CI: 0.395 to 0.809, P=0.002), and intellectual leisure activities( OR=0.742, 95% CI: 0.555 to 0.992, P=0.044)independently influenced the decline of intrinsic ability in the elderly, even after accounting for demographic information, number of diseases, and type of medicine taken. Conclusions:The decline in intrinsic abilities is a common occurrence among the elderly population.Engaging in leisure activities has been found to be effective in reducing this decline.It is important to emphasize the impact of leisure activities on the overall health of older individuals.
8.Investigating age-related characteristics of gait parameters in community-dwelling older adults during normal walking
Ji SHEN ; Yuting KANG ; Hongyu LI ; Jing PANG ; Jie ZHANG ; Chi ZHANG ; Xue MENG ; Guoqing FAN ; Hong SHI
Chinese Journal of Geriatrics 2024;43(11):1468-1474
Objective:To investigate age-related characteristics of gait parameters in the elderly.Methods:From February 2023 to August 2023, a convenient sampling method was used to investigate the elderly over 60 years old in communities in Beijing.General characteristics and anthropometric data were collected.Gait parameters of the subjects during normal speed walking were measured using a wearable gait analyzer.Comparisons were made of the basic characteristics, physical status and gait parameters in different age groups.Linear regression analysis was used to evaluate the changes of physical status and gait parameters with age, with the 60-69-year-old group as the baseline standard.Results:A total of 670 elderly people were included, including 324(48.4%)aged 60-69 years, 285(42.5%)aged 70-79 years, and 61(9.1%)aged ≥80 years.Linear regression analysis showed that after adjusting for confounding factors, with increasing age, skeletal muscle mass index(SMI)( β=-0.018, 95% CI: -0.029--0.007), calf circumference( β=-0.096, 95% CI: -0.142--0.051), upper limb flexibility( β=-0.200, 95%, 95% CI: -0.355--0.046), lower limb flexibility( β=-0.244, 95% CI: -0.377--0.111), grip strength( β=-0.397, 95% CI: -0.491--0.303), the Short Physical Performance Battery(SPPB)( β=-0.080, 95% CI: -0.100--0.060)decreased( P<0.05), and the gait parameter such as speed( β=-0.010, 95% CI: -0.014--0.007), cadence( β=-0.398, 95% CI: -0.634--0.162), step length/height( β=-0.002, 95% CI: -0.003--0.002), stride length( β=-0.009, 95% CI: -0.011--0.007), swing power( β=-0.009, 95% CI: -0.012--0.006), ground impact( β=-0.020, 95% CI: -0.026--0.014), foot fall( β=-0.050, 95% CI: -0.064--0.036), pre-swing angle( β=-0.545, 95% CI: -0.714--0.377)all decreased( P<0.05), while stride time( β=0.005, 95% CI: 0.001-0.009), single limb support time( β=1.566, 95% CI: 0.499-2.633), terminal double limb support time( β=0.609, 95% CI: 0.084-1.134), swing duration( β=1.288, 95% CI: 0.024-2.552), single step time( β=2.417, 95% CI: 0.462-4.372)and support phase time( β=1.935, 95% CI: 0.421-3.449)all increased( P<0.05). Conclusions:The walking ability tends to decline with age in older people in the community who walk at a normal walking speed.
9.Integrated Detection Techniques for Forensic DNA and DNA Methylation Markers
Na YI ; Guang-Bin ZHAO ; Ke-Lai KANG ; Yi-Ren YAO ; Ke-Li GUO ; Jie ZHAO ; Chi ZHANG ; Lei MIAO ; Le WANG ; An-Quan JI
Progress in Biochemistry and Biophysics 2024;51(9):2156-2167
DNA genetic markers have always played important roles in individual identification, kinship analysis, ancestry inference and phenotype characterization in the field of forensic medicine. DNA methylation has unique advantages in biological age inference, body fluid identification and prediction of phenotypes. The majority of current studies independently examine DNA and DNA methylation markers using various workflows, and they use various analytical procedures to interpret the biological information these two markers present. Integrated methods detect DNA and DNA methylation markers simultaneously through a single experimental workflow using the same preparation of sample. Therefore, they can effectively reduce consumption of time and cost, streamline experimental procedures, and preserve valuable DNA samples taken from crime scenes. In this paper, the integrated detection approaches of DNA and DNA methylation markers on different detection platforms were reviewed. In order to convert methylation modifications to detectable forms, several options were available for pretreatment of genomic DNA, including digestion with methylation-sensitive restriction enzyme, affinity enrichment of methylated fragments, conversion of methylated or unmethylated cytosine. Multiplexed primers can be designed for DNA markers and converted DNA methylation markers for co-amplification. The schemes of using capillary electrophoresis platform for integrated detection add the pretreatment of genomic DNA on the basis of detecting DNA genetic markers. DNA and DNA methylation markers are then integrated by co-amplification. But the limited number of fluorescent options available and the length of amplicons restrict the type and quantity of markers that can be integrated into a panel. Pyrophosphate sequencing also supports integrated detection of DNA and DNA methylation markers. On this platform, due to the conversion of unmethylated cytosine to thymine after treatment with bisulfite, the methylation level of CpG site can be directly calculated using the peak height ratio of cytosine bases and thymine bases. Therefore, the methylation levels and SNP typing can be simultaneously obtained. However, due to the limited read length of sequencing, the detection of markers with longer amplicons is restricted. It is not conducive to fully interpret the complete information of the target sequence. Next-generation sequencing also supports integrated detection of DNA and DNA methylation markers. A preliminary experimental process including DNA extraction, pretreatment of genomic DNA, co-preparation of DNA and DNA methylation library and co-sequencing, has been formed based on the next-generation sequencing platform. It confirmed the feasibility of next-generation sequencing technology for integrated detection of DNA and DNA methylation markers. In field of biomedicine, various integrated detection schemes and corresponding data analysis approaches of DNA and DNA genetic markers developed based on the above detection process.Co-analysis can simultaneously obtain the genomic genetic and epigenetic information through a single analytic process. These schemes suggest that next-generation sequencing may be an effective method for achieving more accurate and highly integrated detection, helping to explore the potential for application in forensic biological samples. We finally explore the impact of interactions between sites and different pretreatment methods on the integrated detection of DNA and DNA methylation markers, and also propose the challenge of applying third-generation sequencing for integrated detection in forensic samples.
10.Predicting the potential suitable areas of Platycodon grandiflorum in China using the optimized Maxent model
Yu-jie ZHANG ; Han-wen YU ; Zhao-huan ZHENG ; Chao JIANG ; Juan LIU ; Liang-ping ZHA ; Xiu-lian CHI ; Shuang-ying GUI
Acta Pharmaceutica Sinica 2024;59(9):2625-2633
italic>Platycodon grandiflorum (Jacq.) A. DC is one of the most commonly used bulk medicinal herbs. It has important value in the fields of medicine, food and cosmetics, and its market demand is increasing year by year, and it has a good development prospect. In this study, based on 403 distribution records and 8 environmental variables, we used Maxent model to predict the potential distribution of


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