1.Identification of Rare 3.5 kb Deletion in the β-Globin Gene Cluster.
Yun-Hua FAN ; Cui-Lin DUAN ; Sai-Li LUO ; Shi-Jun GE ; Chong-Fei YU ; Jue-Min XI ; Jia-You CHU ; Zhao-Qing YANG
Journal of Experimental Hematology 2025;33(1):175-179
OBJECTIVE:
To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes.
METHODS:
Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology.
RESULTS:
The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype.
CONCLUSION
Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans
;
beta-Globins/genetics*
;
Multigene Family
;
beta-Thalassemia/genetics*
;
Mutation
;
Genotype
;
Sequence Deletion
;
Phenotype
;
Male
;
Female
2.Expert consensus on the diagnosis and treatment of cemental tear.
Ye LIANG ; Hongrui LIU ; Chengjia XIE ; Yang YU ; Jinlong SHAO ; Chunxu LV ; Wenyan KANG ; Fuhua YAN ; Yaping PAN ; Faming CHEN ; Yan XU ; Zuomin WANG ; Yao SUN ; Ang LI ; Lili CHEN ; Qingxian LUAN ; Chuanjiang ZHAO ; Zhengguo CAO ; Yi LIU ; Jiang SUN ; Zhongchen SONG ; Lei ZHAO ; Li LIN ; Peihui DING ; Weilian SUN ; Jun WANG ; Jiang LIN ; Guangxun ZHU ; Qi ZHANG ; Lijun LUO ; Jiayin DENG ; Yihuai PAN ; Jin ZHAO ; Aimei SONG ; Hongmei GUO ; Jin ZHANG ; Pingping CUI ; Song GE ; Rui ZHANG ; Xiuyun REN ; Shengbin HUANG ; Xi WEI ; Lihong QIU ; Jing DENG ; Keqing PAN ; Dandan MA ; Hongyu ZHAO ; Dong CHEN ; Liangjun ZHONG ; Gang DING ; Wu CHEN ; Quanchen XU ; Xiaoyu SUN ; Lingqian DU ; Ling LI ; Yijia WANG ; Xiaoyuan LI ; Qiang CHEN ; Hui WANG ; Zheng ZHANG ; Mengmeng LIU ; Chengfei ZHANG ; Xuedong ZHOU ; Shaohua GE
International Journal of Oral Science 2025;17(1):61-61
Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans
;
Dental Cementum/injuries*
;
Consensus
;
Diagnosis, Differential
;
Cone-Beam Computed Tomography
;
Tooth Fractures/therapy*
3.Separate and Combained Associations of PM 2.5 Exposure and Smoking with Dementia and Cognitive Impairment.
Lu CUI ; Zhi Hui WANG ; Yu Hong LIU ; Lin Lin MA ; Shi Ge QI ; Ran AN ; Xi CHEN ; Hao Yan GUO ; Yu Xiang YAN
Biomedical and Environmental Sciences 2025;38(2):194-205
OBJECTIVE:
The results of limited studies on the relationship between environmental pollution and dementia have been contradictory. We analyzed the combined effects of PM 2.5 and smoking on the prevalence of dementia and cognitive impairment in an elderly community-dwelling Chinese population.
METHODS:
We assessed 24,117 individuals along with the annual average PM 2.5 concentrations from 2012 to 2016. Dementia was confirmed in the baseline survey at a qualified clinical facility, and newly suspected dementia was assessed in 2017, after excluding cases of suspected dementia in 2015. National census data were used to weight the sample data to reflect the entire population in China, with multiple logistic regression performed to analyze the combined effects of PM 2.5 and smoking frequency on dementia and cognitive impairment.
RESULTS:
Individuals exposed to the highest PM 2.5 concentration and smoked daily were at higher risk of dementia than those in the lowest PM 2.5 concentration group ( OR, 1.603; 95% CI [1.626-1.635], P < 0.0001) and in the nonsmoking group ( OR, 1.248; 95% CI [1.244-1.252]; P < 0.0001). Moderate PM 2.5 exposure and occasional smoking together increased the short-term risk of cognitive impairment. High-level PM 2.5 exposure and smoking were associated with an increased risk of dementia, so more efforts are needed to reduce this risk through environmental protection and antismoking campaigns.
CONCLUSION
High-level PM 2.5 exposure and smoking were associated with an increased risk of dementia. Lowering the ambient PM 2.5, and smoking cessation are recommended to promote health.
Humans
;
Dementia/etiology*
;
Male
;
Aged
;
Female
;
Cognitive Dysfunction/etiology*
;
China/epidemiology*
;
Particulate Matter/analysis*
;
Smoking/epidemiology*
;
Air Pollutants/analysis*
;
Aged, 80 and over
;
Environmental Exposure/adverse effects*
;
Prevalence
;
Middle Aged
4.Body composition and obesity of Ewenki,Daur and Mongolian Buryat
Lu-Ge XI ; Hui-Xin YU ; Yi LIAN ; La-Na YI ; Yuan HAN ; Yong-Lan LI
Acta Anatomica Sinica 2024;55(3):356-362
Objective To analyze the characteristics of adult body composition and obesity status of three ethnic groups:Ewenki,Daur and Mongolian Buryat.Methods The bioelectrical impedance analysis(BIA)was used to measure 18 body composition components in three adults ethnic groups:245(male 124,female 121)Ewenki,207(male 90,female 117)Daur,and 181(male 74,female 107)Mongolian Buryat.The data were processed using Excel 2016 and SPSS 24.0 statistical software.Results The result of correlation analysis showed that visceral fat level was significantly and positively correlated with age(P<0.01).Stature,total body muscle mass,estimated bone mass and trunk muscle mass were all significantly and negatively correlated with age(P<0.01)in males and females of the three ethnic groups.The percent body fat,percent left upper limb fat and percent trunk fat were positively correlated with age in Ewenki males(P<0.05 or P<0.01)and the percent body fat,body mass index(BMI),percent limb fat and percent trunk fat were positively correlated with age in Ewenki females(P<0.05 or P<0.01).Body weight,BMI,percent left upper limb fat,left upper limb muscle mass,bilateral lower limb fat and muscle mass were all negatively correlated with age in Daur males(P<0.05 or P<0.01).Body weight,upper limb muscle mass and left lower limb muscle mass were negatively correlated with age(P<0.05 or P<0.01)in Mongolian Buryat males and percent trunk fat was positively correlated with age(P<0.05)in Mongolian Buryat females.Comparison between ethnic groups showed that most of the body composition index values of the Ewenki and Mongolian Buryat divisions were closest to each other,and the body fat content was higher than that of the Daur.BMI,percent body fat and visceral fat level were all manifested in the Mongolian Buryat Department>Ewenki>Daur.Cluster analysis showed that Ewenki,Daur and Mongolian Buryat were closer to the northern groups and further from the southern groups.Conclusion The Ewenki is most similar to the Mongolian Buryat in body composition characteristics all three ethnic groups has a more serious obesity problem.
5. Expression profiles and regulatory network of microRNA, long non-coding RNA and circular RNA in rat chronic stress depression model based on whole transcriptome technology
Pan MENG ; Jin-Wen GE ; Xi ZHANG ; Xiao-Ye WANG ; Hui YANG ; Jian LIU ; Jin-Wen GE ; Tong-Tong LIU ; Hong-Qing ZHAO ; Yu-Hong WANG ; Rui FANG
Acta Anatomica Sinica 2023;54(4):405-413
[Abstract] Objective To explore the potential pathophysiological mechanism of depression by screening the expression profiles and competing endogenous RNA (ceRNA) regulatory network microRNA(miRNA), long non-coding RNA(lncRNA) and circular RNA (circRNA) in the hippocampus of chronic stress depression rat model. Methods Twelve SD rats were divided into blank group and model group. Chronic mild unpredictability stress (CUMS) was used to construct the rat model of depression. The whole transcriptome analysis was performed on the hippocampus of the rats, and the possible regulatory networks among lncRNA-miRNA-mRNA and circRNA-miRNA-mRNA were explored by bioinformatics method. Results According to the | fold change | ≥1. 5 and P≤0. 05, 29 differentially expressed miRNAs (21 up-regulated and 8 down-regulated), 686 differentially expressed lncRNAs (163 up-regulated and 523 down-regulated) and 8 differentially expressed circRNAs (3 up-regulated and 5 down-regulated) were identified. Gene Ontology (GO) and Kytot Encyclopedia of Genes and Genomes(KEGG) pathway analysis showed that the target genes of miRNAs were mainly enriched in the Golgi apparatus and calcium ion binding process in the cell membrane, the functions of lncRNAs target genes involved nucleic acid binding regulation, cytokine and protein ubiquitination, etc, and the functions of host genes of circRNAs were associated with cellular stimulation response, metabolic process, catalytic activity and other processes. The ceRNA network of lncRNAs and circRNAs showed complex interactions between non-coding RNA (ncRNA) and mRNA related to synaptic plasticity, such as protein Wnt-sa(WNT5a) and collagentype III alpha1(COL8a1) related to axon orientation and laminin A2(LAMA2) related to neurodevelopment. Conclusion The ceRNA network of lncRNA and circRNA shows that the complex interaction betweens ncRNA and mRNA is highly associated with the neuroplasticity, which support the neuroplasticity hypothesis of depression.
6.Experts consensus on the procedure of dental operative microscope in endodontics and operative dentistry.
Bin LIU ; Xuedong ZHOU ; Lin YUE ; Benxiang HOU ; Qing YU ; Bing FAN ; Xi WEI ; Lihong QIU ; Zhengwei HUANG ; Wenwei XIA ; Zhe SUN ; Hanguo WANG ; Liuyan MENG ; Bin PENG ; Chen ZHANG ; Shuli DENG ; Zhaojie LU ; Deqin YANG ; Tiezhou HOU ; Qianzhou JIANG ; Xiaoli XIE ; Xuejun LIU ; Jiyao LI ; Zuhua WANG ; Haipeng LYU ; Ming XUE ; Jiuyu GE ; Yi DU ; Jin ZHAO ; Jingping LIANG
International Journal of Oral Science 2023;15(1):43-43
The dental operative microscope has been widely employed in the field of dentistry, particularly in endodontics and operative dentistry, resulting in significant advancements in the effectiveness of root canal therapy, endodontic surgery, and dental restoration. However, the improper use of this microscope continues to be common in clinical settings, primarily due to operators' insufficient understanding and proficiency in both the features and established operating procedures of this equipment. In October 2019, Professor Jingping Liang, Vice Chairman of the Society of Cariology and Endodontology, Chinese Stomatological Association, organized a consensus meeting with Chinese experts in endodontics and operative dentistry. The objective of this meeting was to establish a standard operation procedure for the dental operative microscope. Subsequently, a consensus was reached and officially issued. Over the span of about four years, the content of this consensus has been further developed and improved through practical experience.
Humans
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Dentistry, Operative
;
Consensus
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Endodontics
;
Root Canal Therapy
;
Dental Care
7.Species and population density of malaria vector Anopheles in Sichuan Province from 2011 to 2021
Xi GONG ; Xiaohong WU ; Fang HUO ; Tao YU ; Li GE ; Yang LIU ; Li LI
Chinese Journal of Schistosomiasis Control 2023;35(6):565-572
Objective To investigate the distribution of malaria vector Anopheles in Sichuan Province from 2011 to 2021, so as to provide the scientific evidence for improving the surveillance of malaria vector Anopheles and preventing re-establishment of imported malaria in Sichuan Province. Methods The density and species of Anopheles mosquitoes were investigated using human-bait trapping and light trapping techniques in malaria vector surveillance sites of Sichuan Province from 2011 to 2021. The number, population and density of captured Anopheles mosquitoes were collected and descriptively analyzed, and the geographical distribution map of malaria vectors was plotted using the software ArcGIS 10.7 in Sichuan Province. Results A total of 152 243 Anopheles mosquitoes were captured in malaria vector surveillance sites of Sichuan Province from 2011 to 2021, including 150 987 An. sinensis (99.18%) and 1 256 An. anthropophagus (0.82%), and no other Anopheles species were captured. The annual densities of An. sinensis and An. anthropophagus were 0.64 to 1.27 mosquitoes/(person-hour) and 0 to 0.07 mosquitoes/(person-hour) by the human-bait trapping technique, and 6.46 to 26.50 mosquitoes/(light-night) and 0 to 0.82 mosquitoes/(light-night) by the light trapping technique in malaria vector surveillance sites of Sichuan Province from 2011 to 2021. A relatively higher density of An. anthropophagus was seen in Renshou County, Jianyang City, Weiyuan County and Mabian Yi Autonomous County [> 0.40 mosquitoes/(person-hour)] by the human-bait trapping technique, and in Cuiping District and Gaoxian County in Yibin City [> 1.00 mosquito/(light-night)] by the light trapping technique in Sichuan Province from 2011 to 2018, with no An. anthropophagus captured from 2019 to 2021, and a relatively higher density of An. sinensis was detected in Emeishan City, Lushan County, Luojiang District, Tongchuan District and Zhaohua District [> 4.00 mosquitoes/(person-hour)] by the human-bait trapping technique, and in Huili County, Yuexi County, Dechang County, Langzhong City, Pingchang County and Xuanhan County [> 40.00 mosquitoes/(light-night)] by the light trapping technique in Sichuan Province from 2011 to 2021. Conclusions Malaria vectors were still widespread in Sichuan Province from 2011 to 2021, and An. sinensis was the dominant species of malaria vectors. There is still a risk of local re-establishment of imported malaria in Sichuan Province, and it is needed to continue to improve the surveillance of imported malaria cases and malaria vectors.
8.A real-world study of effectiveness and safety of generic and original clopidogrel in the treatment of acute coronary syndrome
Bing LUO ; Xian YANG ; Yixuan LI ; Congling CHEN ; Simin YAN ; Xi LAN ; Xue BAO ; Feng YU ; Weihong GE
China Pharmacy 2023;34(6):724-729
OBJECTIVE To evaluate the clinical effectiveness and safety of domestic generic and imported original clopidogrel for antiplatelet therapy in patients with acute coronary syndrome (ACS). METHODS The clinical data of ACS patients in Nanjing Drum Tower Hospital of China Pharmaceutical University from January 2020 to June 2021 were retrospectively collected by using electronic medical record system, and the patients were divided into original drug group (321 cases) and generic drug group (328 cases) according to the drug use. Both groups were given dual antiplatelet therapy with clopidogrel and aspirin. The effectiveness and safety outcomes of the two groups were followed up for 12 months and compared, the related influential factors were analyzed. RESULTS Major adverse cardiovascular events (MACE) occurred in 16 and 22 patients in original drug group and generic drug group respectively, including nonfatal myocardial infarction (4 and 5 cases), stroke (2 and 4 cases), revascularization (8 and 3 cases), cardiovascular related death (2 and 4 cases), and all-cause death (4 and 6 cases). There were 12 and 7 patients with major bleeding events, 38 and 29 patients with minor bleeding events, and 33 and 21 patients with non-bleeding adverse events. There was no statistically significant difference in the cumulative incidence of related events (P values of Log-Rank tests were all greater than 0.05). Cox regression analysis showed that the use of generic clopidogrel did not increase the risk of MACE and major bleeding events in ACS patients [hazard ratio of 1.305 and 0.416, 95% confidence interval of (0.678, 2.512) and (0.155, 1.117), respectively, P>0.05], and the combination of proton pump inhibitors (PPI) could reduce the risk of major bleeding events [hazard ratio of 0.196, 95% confidence interval of (0.063, 0.611), P<0.05]. CONCLUSIONS Compared with imported original drug, domestic generic clopidogrel has similar clinical effectiveness and good safety. Combined use of PPI may be a beneficial factor to reduce the occurrence of major bleeding events in patients.
10.SUN's abdominal acupuncture for depression after methamphetamine withdrawal: a randomized controlled trial.
Yuan-Zheng SUN ; Yan-Lin LIU ; Xi-Tong ZHAO ; Chen ZHOU ; Yu HAN ; Xiu-Ge YANG ; Peng LI
Chinese Acupuncture & Moxibustion 2022;42(1):18-22
OBJECTIVE:
To compare the clinical effect of SUN 's abdominal acupuncture and conventional acupuncture in the treatment of depression after methamphetamine withdrawal.
METHODS:
A total of 80 female patients with depression after methamphetamine withdrawal were randomly divided into an observation group (40 cases, 1 case dropped off) and a control group (40 cases, 2 cases dropped off). The control group was treated with conventional acupuncture at Baihui (GV 20), Yintang (GV 29), Taichong (LR 3), Shenmen (HT 7), Neiguan (PC 6), Danzhong (GV 17), and the observation group was treated with SUN 's abdominal acupuncture at area 1 of the abdomen and area 8 of the abdomen. Both groups were treated once a day, 30 min each time, 6 days as a course of treatment, 1 day rest between treatment courses, a total of 4 courses of treatment. The scores of withdrawal symptoms, Hamilton depression scale (HAMD), Pittsburgh sleep quality index (PSQI) scale and serum serotonin (5-HT) level were compared between the two groups before and after treatment.
RESULTS:
After treatment, the scores of withdrawal symptoms, HAMD and the various scores and total score of PSQI scale in the two groups were all lower than before treatment (P<0.01), and the scores of withdrawal symptoms, HAMD and the sleep quality, time to fall asleep, sleep time scores and total score of PSQI in the observation group were lower than the control group (P<0.05, P<0.01). After treatment, the serum 5-HT level of the two groups was increased (P<0.01), and that in the observation group was higher than the control group (P<0.05).
CONCLUSION
SUN 's abdominal acupuncture can improve withdrawal symptom, depression and sleep quality, increase serum 5-HT content in treatment of depression after methamphetamine withdrawal, and has better effect than conventional acupuncture.
Abdomen
;
Acupuncture Points
;
Acupuncture Therapy
;
Depression/therapy*
;
Female
;
Humans
;
Methamphetamine/adverse effects*
;
Sleep Quality
;
Substance Withdrawal Syndrome/therapy*
;
Treatment Outcome

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