1.Analysis of clinical phenotype and genotype of PAX2 mutation in Chinese children
Xueqing MA ; Yonghua HE ; Jing YANG ; Rongrong XU ; Siying YANG ; Wenpei LIANG ; Jianhua ZHOU ; Huiqing YUAN ; Liru QIU
Chinese Journal of Nephrology 2024;40(1):24-35
Objective:To analyze and summarize the clinical, genotypic and pathological characteristics of children with PAX2 gene mutation in China, and to provide information for the monitoring, treatment and prognosis of the disease. Methods:It was a case series analysis study. The clinical data of children with PAX2 gene mutation in Pediatric Nephrology Department, Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology from January 2014 to December 2022 were collected, and peripheral blood gene DNA was extracted and sequenced for whole exome sequencing. The clinical, pathological and genotypic characteristics of PAX2 gene variation of children in China were summarized by searching PubMed, Medline, China National Knowledge Infrastructure and Wanfang database and compared with the cases in this single center. Results:Among the 13 children with PAX2 gene mutation, there were 9 males and 4 females, 12 patients with abnormal urine tests, 7 patients with small kidney volume by imaging examination, and 5 patients with renal cysts. The clinical phenotypes were congenital renal and urinary tract malformations in 8 cases, renal coloboma syndrome in 1 case, and hematuria or proteinuria in 3 cases. Five patients underwent renal biopsies, showing focal segmental glomerulosclerosis and C3 glomerulopathy in 1 case, focal segmental glomerulosclerosis in 1 case, thin basement membrane lesion in 1 case, and IgA nephropathy in 2 cases. The genetic testing in 13 children showed 9 de novo mutations and 4 new mutations of c.321G>A, c.213-8C>G, c.63C>A and c.449C>T. There were 2 cases of 76dupG (p.V26Gfs*28) mutant. A total of 51 Chinese children with PAX2 gene mutation were found in the literature search. There were 32 males and 19 females, 8 cases with small kidney volume and 12 cases with renal cysts. The clinical phenotypes were congenital anomalies of kidney and urinary tract in 28 cases, renal coloboma syndrome in 17 cases, and hematuria or proteinuria in 6 cases. Seven patients underwent renal biopsies, including 2 cases with focal segmental glomerulosclerosis, 1 case with minimal lesion, 1 case with mesangial proliferative glomerulonephritis, 1 case with IgA nephropathy, 1 case with membranous nephropathy and a case with focal proliferative sclerosing purpura nephritis combined with glomerular hypertrophy. Thirty-four cases were de novo mutations, and 12 mutations were from the father or mother. The father or mother of 5 children had no clinical manifestations, with normal renal function. There were 11 cases of 76dupG (p.V26Gfs*28) mutant. Conclusions:The clinical phenotypes and genotypes of PAX2 gene variation in Chinese children are diverse. The most common clinical phenotype of PAX2 gene variation is congenital anomalies of kidney and urinary tract. c.76dupG (p.V26Gfs*28) is the most common of PAX2 gene variant.
2.Construction of a hierarchical comprehensive training system for glaucoma microsurgery
Shaodan ZHANG ; Guoxing LI ; Rongrong LE ; Qi ZHANG ; Yuanbo LIANG
Chinese Journal of Medical Education Research 2024;23(10):1331-1336
Glaucoma is the leading cause of irreversible blindness worldwide. The coverage rate and treatment outcome of glaucoma surgery are crucial for the prevention and treatment of glaucoma-related visual function impairment. This article analyzes the problems and challenges for glaucoma microsurgery training in China and introduces the current status of glaucoma surgery training in China and globally, and based on the experience of cataract surgery training platform in Eye Hospital of Wenzhou Medical University, this article also elaborates on the feasibility of constructing a structured hierarchical comprehensive training system for glaucoma microsurgery, including multimedia theoretical training, Dry-lab, surgical simulator, and a combination of Wet-lab laboratory microsurgery practice and clinical practice, in order to provide a reference for the training of glaucoma sturgeons in China.
3.Diffusion tensor imaging study on the relationship between white matter and cognitive function in children and adolescents with first-episode schizophrenia
Rongrong SHAO ; Yinghui LIANG ; Yanhong XIA ; Sa XIAO ; Yadi LI ; Suqin GUO
Chinese Journal of Behavioral Medicine and Brain Science 2024;33(7):597-602
Objective:To explore the relationship between white matter integrity and cognitive function in first-episode children and adolescents with schizophrenia by diffusion tensor imaging (DTI).Methods:Totally 84 children and adolescents with first-episode schizophrenia who were hospitalized in the Department of Child and Adolescent Psychiatry at the Second Affiliated Hospital of Xinxiang Medical University from September 2017 to June 2021 were selected as the study group, and 35 healthy children and adolescents matched with the study group were selected as the control group. Positive and negative symptom scale (PANSS) was used to assess the patient's mental symptoms. Diffusion tensor imaging (DTI) scans were performed, and the structural integrity of white matter fibers in the brain was measured by tract-based spatial statistics (TBSS), with the indicators including fractional anisotropy (FA). The Chinese version of measurement and treatment research to improve cognition in schizophrenia consensus cognitive battery (MCCB) and the Stroop color-word test were used to evaluate the cognitive function of all subjects. SPSS 26.0 software was used to analyse the data by analysis of variance, independent sample t-test, Mann Whitney U-test and Pearson correlation analysis. Results:(1)The FA values of the right superior longitudinal tract (MNI: x=49, y=-40, z=31) and the left corticospinal tract (MNI: x=-27, y=-22, z=-19) in the study group were higher than those in the control group(both P<0.05). The FA values of the bilateral cingulate gyrus (MNI: x=-7, y=25, z=14; x=20, y=-50, z=25) and the occipital part of the corpus callosum radiation line (MNI: x=-19, y=-50, z=21) in the study group were lower than those in the control group(both P<0.05).(2)The trail making test score of the study group was higher than that of the control group( t=4.344, P<0.01), and the scores of the symbol coding, Hopkins verbal learning test-revised( HVLT-R), brief visuospatial memory test-revised(BVMT-R), word fluency test, number span, maze, Stroop word, Stroop color and Stroop color words were lower than those in the control group( t=-13.041--3.204, all P<0.05). (3) The FA value of right cingulate gyrus (hippocampus) was negatively correlated with the number span ( r=-0.269, P=0.023).The FA value in occipital part of the corpus callosum radiation line was positively correlated with the symbol code ( r=0.237, P=0.047).The FA value of the left lower longitudinal bundle was negatively correlated with the Stroop color and maze ( r=-0.289, -0.275; P=0.010, 0.020).The FA value of the right inferior longitudinal fasciculus was negatively correlated with the score of maze ( r=-0.254, P=0.032). The FA value of occipital part of the corpus callosum radiation line was positively correlated with positive symptom score ( r=0.170, P=0.040). Conclusion:Cognitive dysfunction in children and adolescent with first-episode schizophrenia may be related to abnormal white matter integrity in the brain.
4.Preliminary application of pseudovirus in evaluating the immunogenicity of recombinant poliovirus vaccines and in rat potency tests
Yueyue LIU ; Lifang DU ; Shi CHEN ; Rongrong ZHAO ; Fan ZHENG ; Ling DING ; Zhijing MA ; Jing ZHANG ; Meng MA ; Suhua ZHAO ; Yu LIANG ; Qiming LI ; Yaru QUAN
Chinese Journal of Microbiology and Immunology 2024;44(9):778-783
Objective:To preliminarily investigate the applicability of a poliovirus pseudovirus-based neutralization assay in evaluating the immunogenicity of recombinant poliovirus vaccines and their in vivo potency in rats. Methods:Serum samples from rats immunized with recombinant poliovirus vaccines were tested using both the pseudovirus neutralization assay and the live-virus neutralization assay with Sabin strain. The consistency and correlation of the two methods were analyzed using the Kappa test and Spearman′s rank correlation.Results:For the neutralizing antibodies against typeⅠ, Ⅱ, and Ⅲ polioviruses, the Kappa values for consistency analysis of the two methods were 0.914, 1.000, and 0.751, respectively ( P<0.001), and the correlation coefficients ( R values) were 0.833, 0.927, and 0.859, respectively ( P<0.001). Conclusions:The test results of the two methods are consistent and show a good correlation, indicating that the pseudovirus neutralization assay can be applied to evaluating the immunogenicity of poliovirus vaccines and also can be used in rat potency tests.
5.Exploratory study on noninvasive evaluation of renal histopathology by ultrasonic shear wave elastography
Jinyun PU ; Lei YE ; Yonghua HE ; Rongrong XU ; Siying YANG ; Huiqing YUAN ; Siyuan LIU ; Wenpei LIANG ; Liru QIU
Chinese Journal of Nephrology 2023;39(8):587-594
Objective:To determine a relationship between ultrasound shear wave elastography (SWE) and pathological lessions of renal tissues in children with chronic kidney disease (CKD).Methods:It was a cross-sectional observational study, involving children admitted to the Department of Pediatrics of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from January to December 2021 with definite pathological diagnosis through kidney biopsy. The SWE was used to determine the Young's modulus (elastic modulus) of the cortex and medulla of the upper, middle, and lower poles of the kidney. The renal histopathology was classified or graded. The statistical method was used to analyze the relationship between Young's modulus of the inferior polar cortex (YM cor) and medulla (YM med) of the right kidney and renal pathology. Results:The study included 110 children with definite pathological diagnosis through renal biopsy, aged (10.1±3.4) years old (2-17 years old), with 55 males (50.0%). The body mass index was (20.6±2.4) kg/m 2, and mean arterial pressure was (95±24) mmHg. There were 94 patients (85.4%) with CKD stage 1, 8 patients (7.3%) with CKD stage 2, and 8 patients (7.3%) with CKD stage 3. There was no significant difference of YM cor and YM med in the upper and middle poles of the right kidneys, and YM med in the lower poles of right kidneys in CKD patients with different stages (all P>0.05). Both YM cor [(15.75±3.36) kPa] and YM med [(13.50±2.43) kPa] of CKD stage 3 patients were significantly higher than those of CKD stage 1 patients [(12.94±2.45) kPa, (11.88±2.23) kPa](both P<0.05). There was no significant difference of YM cor and YM med in the lower poles of right kidneys between stage 1 and stage 2 CKD patients (both P>0.05). YM cor[(17.93±3.23) kPa] and YM med [(15.50±1.48) kPa] in patients with crescentic glomerulonephritis were higher than those in patients with focal segmental glomerulosclerosis [(12.71±2.42) kPa, (11.57±2.63) kPa] and mesangial proliferative glomerulonephritis [(12.73±2.04) kPa, (11.48±2.10) kPa](all P<0.05). There was no significant difference of YM cor and YM med between focal segmental glomerulosclerosis and mesangial proliferative glomerulonephritis (both P>0.05). YM cor [(16.30±2.63) kPa] and YM med [(15.54±1.59) kPa] of Lee's Ⅳ grade of IgA nephropathy were higher than those of Lee's Ⅲ grade [(13.32±2.70) kPa, (12.57±2.50) kPa](both P<0.05), while the International Study of Kidney Disease in Children grade of purpura nephritis had no significant correlation with YM cor and YM med (both P>0.05). YM cor [(15.41±2.37) kPa] and YM med [(13.82±2.59) kPa] of interstitial fibrosis/tubular atrophy (T1/T2) group of IgA nephropathy mixed with purpura nephritis were significantly higher than those of T0 group's [(12.99±2.40) kPa, (11.79±2.05) kPa] (both P<0.05). Moreover, crescent formation (C1) group had a higher YM cor [(14.21±2.77) kPa] and YM med [(12.80±2.47) kPa] than those in C0 group [(12.73±2.15) kPa, (11.59±1.97) kPa] (both P<0.05), while YM cor and YM med were unrelated to the mesangial hypercellularity (M), endocapillary cellularity (E), segmental sclerosis or adhesion (S) indicators (all P>0.05). In lupus nephritis patients, YM cor ( r=0.744, P=0.035) and YM med ( r=0.728, P=0.009) were favorably linked with the chronic index, but not with the activity index (both P>0.05). Conclusions:Renal interstitial fibrosis/tubular atrophy and crescentic development are connected with YM cor and YM med at the lower pole of the kidney as measured by SWE. SWE can be used to assess the chronic renal lesions in children with CKD in the early and middle stages. It may develop into a new noninvasive way to assess renal pathology.
6.Prevalence of mild visual impairment in type 2 diabetes patients over 50 years old in Funing County: Jiangsu Diabetic Eye Disease Study
Shiyi WANG ; Mei YANG ; Bihong LIU ; Dajun SUN ; Congkai LIANG ; Yaqin SHEN ; Rongrong ZHU
Chinese Journal of Experimental Ophthalmology 2022;40(9):852-858
Objective:To investigate the prevalence and influencing factors of mild visual impairment in type 2 diabetic patients aged ≥50 years living in Funing County, Jiangsu Province.Methods:A population-based cross-sectional study was adopted.Cluster sampling was conducted among diabetic patients aged ≥50 years registered in the Chronic Disease Information Center of Funing County Center for Disease Prevention and Control from March 7th to April 20th, 2019.General information of selected patients was collected.Visual and ocular examinations on site were performed by ophthalmologists and technicians.The International Council of Ophthalmology standard for mild visual impairment, 0.3≤best corrected visual acuity<0.8 was adopted.The influencing factors of mild visual impairment were analyzed by logistic regression.This study protocol was approved by the Ethics Committee of Affiliated Hospital of Nantong University (No.2014-071).Results:Among the included 2 067 patients, 1 909 cases completed the investigation, with a response rate of 92.4%.There were 1 146 patients with mild visual impairment in at least one eye, and the prevalence of mild visual impairment was 60.00%.Among the eyes examined, 1 832 eyes were with mild visual impairment, accounting for 47.98%.Cataract (896/1 632), refractive error (515/1 632) and diabetic retinopathy (166/1 632) were the main causes of mild visual impairment in diabetic patients, accounting for 54.90%, 31.61% and 10.19%, respectively.Aging, female gender, low educational attainment, oral hypoglycemic drugs or subcutaneous insulin injection were risk factors for mild visual impairment in both eyes.Higher educational attainment, more sunshine exposure and exercise were protective factors for mild visual impairment in both eyes.Conclusions:The prevalence of mild visual impairment is relatively high in type 2 diabetic patients.Cataract surgery, correction of refractive error may help to improve mild visual impairment.Strengthening blood glucose control, more physical exercise and outdoor activities may slow the progression of mild visual impairment and prevent it from moderate and severe visual impairment.
7.Spatial distribution analysis of blood donors′ intended donation addresses based on ArcGIS
Jinyan CHEN ; Guiyun XIE ; Rongrong KE ; Xiaoxiao ZHENG ; Yingying XU ; Xiaochun HONG ; Shijie LI ; Huaqin LIANG
Chinese Journal of Blood Transfusion 2022;35(12):1248-1251
【Objective】 To apply the spatial distribution analysis based on ArcGIS software, which has been applied widely in other fields, so as to analyze the intended locations for whole blood donation. 【Methods】 After a random stratified sampling was conducted among blood donors in the 17 donation sites during August 1st, 2021- July 30th, 2022, their intended blood donation locations were collected by an e-questionnaire. Addresses of donors′ intended donation locations were derived for GCJ-02 coordinates form and transformed by pandas module of Python to WGS84 coordinates, which further loaded to ArcGIS Arcmap module using Grouping Analysis for 17 median centers. The addresses of 17 blood donation sites in Guangzhou Blood Center were transformed to WGS84 coordinates and loaded to ArcGIS Arcmap module using the same methods for 3 ring buffer analysis. The criterion for judging whether the two were " matched" was whether the intended blood donation sites were covered by or adjacent to the 3 ring buffer zone of the existing blood donation sites. 【Results】 Of the 17 potential sites obtained from the spatial distribution analysis of 40 523 valid addresses of donors, 8 sites were covered or adjacent to the buffer of the existing donation sites, while the other 9 sites were far away from the existing donation sites. 【Conclusion】 By analyzing the spatial distribution of donors′ intended donation addresses, we can find out the service needs of donors for donating blood conveniently, which can provide basis for further blood donation service optimization.
8.Relationship between disrupted-in-schizophrinia-1 polymorphism and the abnormal brain structure in childhood and adolescence with schizophrenia
Jinghua GUO ; Zhishuang YI ; Suqin GUO ; Yuling LI ; Yinghui LIANG ; Yanhong XIA ; Rongrong SHAO ; Jie LI
Chinese Journal of Applied Clinical Pediatrics 2020;35(13):1009-1013
Objective:To investigate the relationships of rs4658971 polymorphism of disrupted-in-schizophrinia-1 ( DISC1) gene with schizophrenia in children and adolescents and with the brain structure of such patients. Methods:(1) A total of 577 children and adolescents with schizophrenia were recruited from the Inpatient Department of the Second Affiliated Hospital of Xinxiang Medical University from October 2010 to December 2018, and 516 healthy children were selected as the control group.The rs4658971 polymorphism of DISC1 gene was detected by restriction fragment length polymorphism (PCR-RFLP). The differences of DISC1 genotype and allele frequencies between schizophrenia patients and healthy children were compared by Chi-square test.(2)One hundred and eighteen patients with the first-episode schizophrenia whose illness duration was no more than 12 months and 101 healthy children and adolescents were detected by 3.0T magnetic resonance imaging (MRI). The craniocerebral structures of patients with different DISC1 genotypes were analyzed by covariance with age as the covariant. Results:(1) The rs4658971 genotype frequencies(TT 6.6% vs.5.2%, TC 37.4% vs.38.4%, CC 56.0% vs.56.4%, χ2=0.91, P=0.63) and allele frequencies(C 74.70% vs.75.58%, T 25.30% vs.24.42%, χ2=0.23, P=0.63) of DISC1 gene in children and adolescents with schizophrenia were not significantly different from those in the healthy children.(2) Compared with the control group, the transverse diameter of the third ventricle was significantly enlarged in children and adolescent with schizophrenia [(4.68±1.41) mm vs.(4.06±1.36) mm, F=8.534, P=0.004], while the distance between the anterior feet of the lateral ventricle, the width of the caudate nucleus head and the thickness of the hippocampus were significantly reduced [(30.69±2.51) mm vs.(32.02±2.41) mm, (8.17±1.01) mm vs.(9.22±1.14) mm, (8.93±0.97) mm vs.(9.93±1.14) mm], and the differences were statistically significant( F=15.435, 40.201, 44.650, all P<0.001). The covariance analysis (with age as the covariant) showed that there was significant difference in the width of the caudate nucleus head between patients with CC genotype and those with CT+ TT genotype[(8.73±0.85) mm vs.(7.39±0.61) mm, F=41.376, P<0.001]. Conclusions:There are multiple brain structural changes in children and adolescents with first-episode schizophrenia.T allele carriers of DISC1 gene rs4658971 locus may be related to the reduced width of the caudate nucleus head in patients.
9.The relationship between lung miacrobiome and lung cancer
Weichun LI ; Lingling SU ; Aiping ZHANG ; Rongrong ZHANG ; Yun CAO ; Liang YANG
Journal of Chinese Physician 2020;22(11):1757-1760,f3
The mucosal surfaces of the human body are typically colonized by polymicrobial communities, they exist in the gastrointestinal tract, skin, oral cavity, and genitourinary tract, as well as in anatomical sites previously considered sterile, including the lung. These communities interact with the mucosal immune system to maintain homeostasis in health, emphasizing the important role of " second genome" , which is very important to human health. The human lower respiratory tract also harbor many microbes, the imbalance of microbiome composition maybe critically related with many lung disease. Up to date, researches on microbiome of lung caner is still on the first step. Our review mainly describes the characteristic composition of lung microbiome, and the relationship with diseases, especially with lung cancer. We attempts to provide the basis information for further researches about the relationship between human lung microbiome and lung cancer.
10.An empirical research and countermeasure analysis on medical students' individual career management effectiveness
Xiaoting ZHENG ; Rongrong LIANG ; Huijing TAN ; Yun CHEN ; Yanni XIE ; Xiuhua QIU
Chinese Journal of Medical Education Research 2019;18(2):204-211
Objective To investigate the current situation of medical students' individual career management and its educational status.Methods Self-made questionnaire was used to investigate the present situation of individual career management and education of medical students in a medical college in November 2016.SPSS 20.0 was used for analyzing descriptive statistical analysis,t test and rank test in questionnaire data.From April to May 2017,30 students were randomly selected for interviews to explore the current situation of medical students' individual career management.Result 900 questionnaires were issued and 816 valid questionnaires were collected,and the recovery rate was 90.67%.Whether medical students accept the relevant education had significant difference in their career management ability (P< 0.05),30.15% of the students who received the relevant education (246) had a higher total score of their own career management than those who had not received,which was reflected in social work environment cognition level,participation in extracurricular activities,consideration of graduation and stage goals setting.It is learned from the interview that most medical students lack clear self-awareness and professional goals are vague,and they fail to form a good personal career management atmosphere.Conclusion Individual career management education promotes the cognitive level of social work environment of medical students and then develops their self-awareness.At the same time,it urges medical students to participate in extracurricular activities,to consider the whereabouts after graduation,to set phased goals,and to carry out targeted self-improvement.The comprehensive development of self-cognition and self-improvement finally make the medical students' individual career management ability continuously improved.

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