1.Correlation between myopia progression and visual performance in children
Lu YU ; Tingnan HUANG ; Yimeng QU ; Pei CHEN ; Ying WANG ; Dan LYU ; Liqin ZHOU ; Zheng WANG
International Eye Science 2024;24(5):778-783
		                        		
		                        			
		                        			 The incidence of myopia among Chinese adolescents is progressively rising, indicating a distinct trend toward younger age onset.This paper aims to comprehensively review the impact of various visual performance on myopia and its progression, with a specific emphasis on accommodative function, convergence function, and ocular position. A meticulous exploration of accommodation function, encompassing accommodative amplitude, accommodative facility, accommodative response, positive relative accommodation, and negative relative accommodation, has been undertaken to elucidate its contributory role in myopia progression. Concurrently, an exhaustive analysis of convergence function has been conducted including esotropia and exotropia, convergence insufficiency and convergence excess, fusional function vergence, divergence insufficiency, and excess, providing a nuanced understanding of convergence's implications for myopia advancement. Furthermore, the influence of ocular position on myopia progression, along with other factors affecting perceptual ocular position and intermittent exotropia, is discussed. The primary objective of this article is to unveil the multifaceted visual performance influencing myopia and its progression, elucidating the paramount significance of accommodative function, convergence function, and ocular position in this context. 
		                        		
		                        		
		                        		
		                        	
2.A Pedigree Study of Hereditary Auditory Neuropathy with Optic Atrophy
Pei DONG ; Limin SUO ; Lei ZHANG ; Min HE ; Wei JIA ; Tong LI ; Linjing FAN ; Qingfeng LI ; Jie YANG ; Ling JIN ; Dan LI ; Jinmei XUE ; Changqing ZHAO ; Yaxi ZHANG ; Jianxiong DUAN
Journal of Audiology and Speech Pathology 2024;32(2):107-111
		                        		
		                        			
		                        			Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G>A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G>A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G>A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.
		                        		
		                        		
		                        		
		                        	
3.Expression of TFDP2 in placentas of women with preeclampsia and its effect on apoptosis of trophoblast cells
Chenrui CAO ; Dan LIU ; Zhiyin WANG ; Guangfeng ZHAO ; Zhongrui PEI ; Yali HU
Chinese Journal of Perinatal Medicine 2024;27(2):133-142
		                        		
		                        			
		                        			Objective:To investigate the expression level of transcription factor dimerization partner 2 (TFDP2) in the placentas of women with preeclampsia, and analyze its effect on the apoptosis of trophoblast cells.Methods:Placental tissues from thirty puerperae with preeclampsia who gave birth by cesarean section in Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School between January 2018 and December 2022 (preeclampsia group) and 30 healthy puerperae undergoing cesarean section during the same period (control group) were retrospectively selected. Immunohistochemistry was used to localize TFDP2 in the placental tissues. Real-time quantitative-polymerase chain reaction (qRT-PCR) and Western blot were used to detect the differences in expression of TFDP2 at mRNA and protein levels in placental tissues between the two groups. Forskolin-exposed BeWo cells were transfected with small interfering RNA (siRNA) to knockdown TFDP2 and the changes in the expression of apoptosis-related indicators, B cell lymphoma 2 (Bcl2) and Bcl2 associated X (Bax), at protein and mRNA levels were analyzed by Western blot and qRT-PCR, respectively. Besides, the change in the apoptosis level of BeWo cells was detected using terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL) staining and flow cytometry. Downstream signaling pathways were analyzed to understand the involved molecular mechanisms. Two independent samples t-test, Wilcoxon rank-sum test, and Chi-square test were used for statistical analysis. Results:TFDP2 was mostly localized in the syncytiotrophoblasts and the extravillous trophoblasts in the normal placentas. TFDP2 expression in the syncytiotrophoblasts was lower in the preeclampsia group than in the control group at both mRNA (0.722±0.239 vs. 1.000±0.348, t=3.61, P=0.001) and protein (0.728±0.185 vs. 1.000±0.206, t=2.41, P=0.037) levels. Comparing the group without knockdown of TFDP2, the knockdown of TFDP2 in BeWo cells elevated the Bax/Bcl2 ratio (mRNA: 1.755±0.452 vs. 1.000±0.279, t=3.48, P=0.006; protein: 3.206±0.922 vs. 1.000±0.290, t=3.95, P=0.017), and increased cell apoptosis both in number and ratio (TUNEL staining: 4.556±1.740 vs. 2.444±1.130, t=3.05, P=0.008; flow cytometry: 21.37%±1.66% vs. 12.61%±0.38%, t=8.92, P=0.001). Furthermore, following TFDP2 knockdown, a decrease in the phosphorylation activity of catalytic subunit of protein kinase A (PKAc) at the Thr197 site was observed in the cytoplasm of BeWo cells (0.466±0.035 vs. 1.000±0.075, t=11.19, P<0.001) and a reduction in the expression of β-catenin in the cell nucleus was also detected (0.250±0.093 vs. 1.000±0.269, t=4.57, P=0.010). Conclusion:The expression of TFDP2 decreased significantly in the placentas of patients with preeclampsia, which may promote the apoptosis of syncytiotrophoblasts by inhibiting the PKAc/β-catenin signaling pathway.
		                        		
		                        		
		                        		
		                        	
4.The significance of hypermethylation level of CDO1 gene and HOXA9 gene in serum in the diagnosis of ovarian cancer
Qiannan HOU ; Yu YUAN ; Yan LI ; Zhaolin GONG ; Qiang ZHANG ; Dan FENG ; Yuanfu GONG ; Linhai WANG ; Pei LIU ; Xiaobing XIE ; Li HE
Chinese Journal of Laboratory Medicine 2024;47(4):401-406
		                        		
		                        			
		                        			Objective:To explore the clinical application and triage management value of using blood circulating cell-free DNA (cfDNA) (cysteine dioxygenase type 1 gene, CDO1, and Homeobox protein A9 gene, HOXA9) hypermethylation level to detect and diagnose ovarian cancer.Methods:A case-control study was conducted on patients who went for surgery at Chengdu Womens and Childrens Central Hospital from November 2022 to October 2023. Blood samples were collected before surgery for evaluation of cancer antigen 125 (CA125), human epididymis protein 4 (HE4), risk of ovarian malignancy algorithm (ROMA) score, and DNA methylation testing. The basic clinical information, biomarkers, and transvaginal ultrasound (TVS) information were collected simultaneously. Information from a total of 151 patients was collected, including 122 cases with benign pathology and 29 ovarian cancer cases. The pathologic diagnosis of ovarian tissue was defined as the gold standard. The multivariate logistic regression analysis was used to identify high-risk factors for ovarian cancer. The clinical efficacy of DNA methylation detection for ovarian cancer was analyzed using the area under curve (AUC).Results:The results showed that the age, menopausal status, CA125 and HE4 detection, ROMA score, positivity rate of CDO1 gene and HOXA9 gene single or combined testing in ovarian cancer patients were higher than those in the benign group and showed significant differences ( P<0.05). Among these detection protocols, the AUC of CDO1 and HOXA9 dual gene methylation testing for ovarian cancer was the highest at 0.936 (95% CI, 0.878-0.994), with 89.7% (95% CI 73.6%-96.4%) sensitivity and 97.5% (95% CI 93.0%-99.2%) specificity, respectively. The positive detection rate of CDO1 and HOXA9 dual gene methylation in early ovarian cancer FOGO I-II stage is 12/14 higher than other tests. Conclusion:Blood cfDNA methylation detection, a simple, non-invasive, and highly sensitive detection method, is superior to the current ovarian cancer testing in the risk assessment and early detection.
		                        		
		                        		
		                        		
		                        	
5.Screening and content determination of differential quality markers in Zingiber officinale mixed and triturated with Schisandra chinensis before and after processing
Pei ZHONG ; Jianglin XUE ; Quan ZHAO ; Chanming LIU ; Xiaojing YAN ; Dan SU ; Yonggui SONG ; Tulin LU ; Wei HUANG
China Pharmacy 2024;35(23):2870-2876
		                        		
		                        			
		                        			OBJECTIVE To screen and quantitatively analyze differential quality markers (Q-Marker) in Zingiber officinale mixed and triturated with Schisandra chinensis (ZMTS) before and after processing. METHODS HPLC fingerprints of before processing [Z. officinale complicated with S. chinensis (ZWS)] and after processing (ZMTS) (10 batches each) were established. The differences of Q-Markers before and after processing were screened by the chemical pattern recognition method and Q-Marker “five principles”, and the contents were determined. RESULTS A total of 14 common peaks were identified in the fingerprints of ZWS, 22 common peaks were identified in the fingerprints of ZMTS, and 8 components were identified. Differential Q-Marker were screened by chemical pattern recognition and Q-Marker “five principles”, i. e. 6-gingerol, schisandrol A schisandrol B, 8-gingerol, 10-gingerol, schisandrin A, schisandrin B, schizandrin C. The average contents of the 8 differential Q-Markers in ZMTS were 229.46, 244.48, 39.96, 44.12, 61.17, 47.82, 100.11 and 9.70 μg/g, respectively. The average contents of the 4 differential Q-Markers (6-gingerol, schisandrol A, schisandrol B, 8-gingerol) in ZWS were 112.58, 19.01, 26.74 and 5.98 μg/g, respectively. CONCLUSIONS In this study, the differential Q-Markers before and after ZMTS processing are screened. The contents of the Q-Markers in ZMTS after processing are higher than those before processing.
		                        		
		                        		
		                        		
		                        	
6.Association between waist circumference and ischemic stroke: a prospective study in adults from Qingdao
Yuhui LI ; Lei LIU ; Dan HU ; Xiaoyan ZHENG ; Jun LYU ; Canqing YU ; Pei PEI ; Haiping DUAN ; Ruqin GAO ; Zengchang PANG ; Xiaocao TIAN ; Dianjianyi SUN
Chinese Journal of Epidemiology 2024;45(2):178-184
		                        		
		                        			
		                        			Objective:To analyze the association between waist circumference (WC) and ischemic stroke (IS).Methods:The data for the present study were from the prospective cohort study of China Kadoorie Biobank in Qingdao. Using baseline information and IS events of the participants, the Cox proportional hazard regression model and restricted cubic spline (RCS) were used to analyze the association between WC and IS.Results:A total of 33 355 participants were included in the study, with 302 008.88 person-years of follow-up. A total of 1 093 new cases of IS were observed. Multivariate Cox proportional hazard regression model analysis showed that compared to the respondents with normal WC (male <85.0 cm, female <80.0 cm), respondents with excessive WC (male ≥85.0 cm, female ≥80.0 cm) had a 78% higher risk of IS incidence [hazard ratio( HR)=1.78, 95% CI: 1.51-2.10], and the risk increased by 72% ( HR=1.72, 95% CI: 1.40-2.12) and 83% ( HR=1.83, 95% CI: 1.40-2.39) in men and women. According to the RCS, the increase in WC and the risk of IS showed an "S" trend of nonlinear dose-response relationship. Conclusions:The risk of IS would increase with the WC. Keeping a normal WC is important for preventing IS.
		                        		
		                        		
		                        		
		                        	
7.Association of solid fuel use for heating and smoking with respiratory diseases: a prospective cohort study
Yang YU ; Xiaocao TIAN ; Hua ZHANG ; Dan HU ; Jun LYU ; Canqing YU ; Pei PEI ; Dianjianyi SUN ; Ruqin GAO ; Zengchang PANG ; Haiping DUAN
Chinese Journal of Epidemiology 2024;45(10):1356-1361
		                        		
		                        			
		                        			Objective:To investigate the association between solid fuel use for heating, smoking, and respiratory diseases.Methods:This study is based on the Qingdao project of the China Kadoorie Biobank. After screening, 26 165 individuals were included in the study. We employed Cox proportional hazards regression models, stratified by risk age (in 5-year intervals) and sex while adjusting for confounding variables such as occupation and physical activity level to analyze the association between solid fuel use for heating, smoking, and increased risk of respiratory diseases.Results:Among the 26 165 participants, the average age of those using solid fuel for heating was (52.57±10.31) years, with females constituting 58.04% and former/current smokers accounting for 65.38%. The results indicated that both the solid fuel group and the former/current smoking group had a higher risk of respiratory diseases, with hazard ratios ( HR) (95% CI) of 1.21 (1.04-1.41) and 1.41 (1.16-1.71), respectively. For the duration of solid fuel use, the HR (95% CI) for 20 years or more, it was 1.27 (1.07-1.51). The multiplicative interaction term between solid fuel use and smoking was statistically significant. Conclusions:The use of solid fuel for heating and smoking significantly increases the risk of respiratory diseases, and there may be a multiplicative interaction between solid fuel use and smoking.
		                        		
		                        		
		                        		
		                        	
8.Early efficacy of modified suspended fixation with triple plates and double beams for acroxoclavicular dislocation
Dan WEN ; Wenyong FEI ; Pei ZHANG ; Dan GUO ; Yaojia LU ; Hua WANG
Chinese Journal of Orthopaedic Trauma 2024;26(11):964-971
		                        		
		                        			
		                        			Objective:To evaluate the early clinical outcomes of modified suspended fixation with triple plates and double beams through a limited incision in the treatment of acroxoclavicular dislocation.Methods:A retrospective study was conducted to analyze the 23 patients with acromioclavicular dislocation who had been treated at Department of Orthopedics, The People's Hospital of Northern Jiangsu from June 2021 to August 2023 by modified suspended fixation with triple plates and double beams through a limited incision. There were 9 males and 14 females with an age of (52.2±10.6) years. The incision length, operation time, intraoperative bleeding and complications were recorded. The visual analogue scale (VAS) pain score, Constant-Murley shoulder score, American Shoulder and Elbow Surgeons (ASES) score, range of shoulder motion (anterior flexion, abduction, lateral rotation) were recorded and compared between preoperation and the last follow-up. The coracoclavicular distance (CCD), clavicle tract width and coracoid tract width were measured and compared between postoperative day 2 and the last follow-up.Results:The patients were followed up for 12 (12, 16) months. The incision length was 5 (4, 5) cm, the operation time 50 (40, 60) min, and the intraoperative bleeding 30 (20, 30) mL. No such complications occurred as incision infection, fracture, or failure of internal fixation. The VAS pain score, Constant-Murley shoulder score, ASES score, anterior flexion, abduction and lateral rotation of the shoulder at the last follow-up were, respectively, 0 (0, 0) point, (92.8±4.9) points, (90.4±5.7) points, 175 °(170°, 180°), 175°(170°, 175°), and 85°(80°, 85°), significantly improved compared with the preoperative values [6 (5, 6) points, (40.4±7.2) points, (39.3±7.1) points, 85°(80°, 85°), 85°(80°, 90°), and 35°(35°, 40°)] ( P<0.05). The CCD was (6.1±1.3) mm at postoperative day 2 and (7.5±1.7) mm at the last follow-up, showing a significant difference ( P<0.05). Compared with postoperative day 2, the CCD widening at the last follow-up was <4mm in all patients, giving an excellent rate of 100% (23/23). The medial clavicle tract widening and the medial coracoid tract widening at the last follow-up were both <2 mm in all patients, giving an excellent rate of 100% (23/23). The lateral clavicle tract widening at the last follow-up was >2 mm in 2 patients, giving an excellent rate of 91% (21/23). Conclusions:In the treatment of acroxoclavicular dislocation, our modified suspended fixation with triple plates and double beams through a limited incision can lead to reliable reduction fixation and good recovery of shoulder function, showing advantages of short surgical time, easy surgical operation, high safety, and minimal postoperative widening of bone tracts.
		                        		
		                        		
		                        		
		                        	
9.Clinical Analysis of Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia in Children
Tian-Dan LI ; Shao-Yan HU ; Zong ZHAI ; Guang-Hua CHEN ; Jun LU ; Hai-Long HE ; Pei-Fang XIAO ; Jie LI ; Yi WANG
Journal of Experimental Hematology 2024;32(1):78-84
		                        		
		                        			
		                        			Objective:To explore the clinical characteristics,molecular characteristics,treatment and prognosis of pediatric Philadelphia chromosome-like acute lymphoblastic leukemia(Ph-like ALL)with a therapeutic target.Methods:A total of 27 patients of Ph-like ALL with targeted drug target were initially diagnosed in Children's Hospital of Soochow University from December 2017 to June 2021.The data of age,gender,white blood cell(WBC)count at initial diagnosis,genetic characteristics,molecular biological changes,chemotherapy regimen,different targeted drugs were given,and minimal residual disease(MRD)on day 19,MRD on day 46,whether hematopoietic stem cell transplantation(HSCT)were retrospective analyed,and the clinical characteristics and treatment effect were summarized.Survival analysis was performed by Kaplan-Meier method.Results:The intensity of chemotherapy was adjusted according to the MRD level during induced remission therapy in 27 patients,10 patients were treated with targeted drugs during treatment,and 3 patients were bridged with HSCT,1 patient died and 2 patients survived.Among the 24 patients who did not receive HSCT,1 patient developed relapse,and achieved complete remission(CR)after treatment with chimeric antigen receptors T cells(CAR-T).The 3-year overall survival,3-year relapse-free survival and 3-year event-free survival rate of 27 patients were(95.5±4.4)%,(95.0±4.9)%and(90.7±6.3)%respectively.Conclusion:Risk stratification chemotherapy based on MRD monitoring can improve the prognosis of Ph-like ALL in children,combined with targeted drugs can achieve complete remission as soon as possible in children whose chemotherapy response is poor,and sequential CAR-T and HSCT can significantly improve the therapeutic effect of Ph-like ALL in children whose MRD is continuously positive during induced remission therapy.
		                        		
		                        		
		                        		
		                        	
10.Prognostic Factors Affecting Recurrence in Peripheral T-Cell Lymphoma Patients with Different HDAC Levels
Ying-Xin LI ; Yi-Dan LI ; Pei WANG ; Hui-Jie JIAO ; Ying LI ; Jing ZHANG ; Xian-Hua YUAN
Journal of Experimental Hematology 2024;32(3):733-741
		                        		
		                        			
		                        			Objective:To analyze the distribution characteristics of prognostic factors affecting recurrence in peripheral T-cell lymphoma(PTCL)patients with different levels of histone deacetylase(HDAC)based on latent class analysis.Methods:112 PTCL patients who were treated in our hospital from September 2012 to September 2019 were selected and divided into recurrence group and non-recurrence group.The clinical data of the two groups of patients were compared.Multivariate logistic regression was used to analyze the risk factors for recurrence.Latent class analysis was used to compare the distribution characteristics of prognostic factors affecting recurrence between the high-risk group and the low-risk group.Results:There were 87 patients(77.68%)in recurrence group and 25 patients(22.32%)in non-recurrence group.The result of multivariate logistic regression showed that ECOG score ≥2,Ann Arbor stage Ⅲ-Ⅳ,IPI score>2,bone marrow involvement,elevated serum β2-microglobulin(β2-MG),short-term efficacy not reaching complete remission(CR)or partial remission(PR),and the high expression of HDAC were all independent risk factors for recurrence in patients with PTCL(P<0.05).The recurrence rate of patients with high HDAC levels was significantly higher than that of patiens with low HDAC levels(P<0.05).The results of cluster analysis showed that the risk of recurrence was obviously clustered,and the patients could be divided into high recurrence risk group(HDAC>5 points)and low recurrence risk group(HDAC≤5 points).The results of latent class analysis showed that patients with multiple risk factors account for a higher proportion in the high recurrence risk group,compared with the low recurrence risk group(P<0.05).Conclusion:There are differences in recurrence rates among PTCL patients with different HDAC levels and in distribution characteristics of risk factors between high recurrence risk and low recurrence risk groups.
		                        		
		                        		
		                        		
		                        	
            
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