1.HOTAIR rs920778 single nucleotide polymorphism is associated with breast cancer susceptibility and HER2-targeted therapy resistance in Chinese population.
Mingliang ZHANG ; Feifan SUN ; Zhuoqi HAN ; Yue GAO ; Yi LUO
Journal of Southern Medical University 2025;45(10):2270-2276
OBJECTIVES:
To investigate the association of HOTAIR gene rs920778 single nucleotide polymorphism (SNP) with breast cancer susceptibility and response to HER2-targeted therapy in a Chinese population.
METHODS:
TaqMan probe-based real-time quantitative PCR was used for genotyping of the rs920778 locus (chr12:54,376,218) in peripheral blood genomic DNA from 287 breast cancer patients and 260 healthy individuals from northern Anhui Province. The genotype (GG, GT and TT) and allele (G/T) distribution frequencies were compared between the two groups to evaluate their association with breast cancer risk. Multivariate logistic regression analysis was conducted to assess the relationship between SNP at this locus and aggressive clinicopathological features (including tumor size, lymph node metastasis, ER/PR/HER2 status, and molecular subtypes) of breast cancer. For the HER2-positive subgroup, the association between rs920778 genotype and responses to dual-targeted therapy (trastuzumab [6 mg/kg q3w]+pertuzumab [420 mg q3w] + docetaxel [75 mg/m²]) was analyzed. The primary endpoints included pathological complete response rate (pCR), objective response rate (ORR), and progression-free survival (PFS).
RESULTS:
The TT genotype of rs920778 was associated with a significantly increased breast cancer susceptibility (OR=1.54, 95% CI: 1.09-2.19; P=0.017), an advanced tumor stage (P<0.001), lymph node metastasis (P<0.001), and the triple-negative subtype (P<0.001). In HER2-positive patients, TT genotype carriers had a markedly reduced objective response rate to dual HER2-targeted therapy (33.3% vs 89.3%, P=0.001) and a lower pathological complete response rate after neoadjuvant therapy (P=0.018).
CONCLUSIONS
The TT genotype of HOTAIR rs920778 serves as an independent risk factor for breast cancer susceptibility and aggressive progression in Chinese population and may predict the resistance to HER2-targeted therapies, suggesting its potential as a prognostic biomarker for precision oncology.
Adult
;
Aged
;
Female
;
Humans
;
Middle Aged
;
Breast Neoplasms/drug therapy*
;
Case-Control Studies
;
China
;
Drug Resistance, Neoplasm/genetics*
;
Genetic Predisposition to Disease
;
Genotype
;
Polymorphism, Single Nucleotide
;
Receptor, ErbB-2
;
RNA, Long Noncoding/genetics*
;
East Asian People/genetics*
2.Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome (version 2024)
Junyu WANG ; Hai JIN ; Danfeng ZHANG ; Rutong YU ; Mingkun YU ; Yijie MA ; Yue MA ; Ning WANG ; Chunhong WANG ; Chunhui WANG ; Qing WANG ; Xinyu WANG ; Xinjun WANG ; Hengli TIAN ; Xinhua TIAN ; Yijun BAO ; Hua FENG ; Wa DA ; Liquan LYU ; Haijun REN ; Jinfang LIU ; Guodong LIU ; Chunhui LIU ; Junwen GUAN ; Rongcai JIANG ; Yiming LI ; Lihong LI ; Zhenxing LI ; Jinglian LI ; Jun YANG ; Chaohua YANG ; Xiao BU ; Xuehai WU ; Li BIE ; Binghui QIU ; Yongming ZHANG ; Qingjiu ZHANG ; Bo ZHANG ; Xiangtong ZHANG ; Rongbin CHEN ; Chao LIN ; Hu JIN ; Weiming ZHENG ; Mingliang ZHAO ; Liang ZHAO ; Rong HU ; Jixin DUAN ; Jiemin YAO ; Hechun XIA ; Ye GU ; Tao QIAN ; Suokai QIAN ; Tao XU ; Guoyi GAO ; Xiaoping TANG ; Qibing HUANG ; Rong FU ; Jun KANG ; Guobiao LIANG ; Kaiwei HAN ; Zhenmin HAN ; Shuo HAN ; Jun PU ; Lijun HENG ; Junji WEI ; Lijun HOU
Chinese Journal of Trauma 2024;40(5):385-396
Traumatic supraorbital fissure syndrome (TSOFS) is a symptom complex caused by nerve entrapment in the supraorbital fissure after skull base trauma. If the compressed cranial nerve in the supraorbital fissure is not decompressed surgically, ptosis, diplopia and eye movement disorder may exist for a long time and seriously affect the patients′ quality of life. Since its overall incidence is not high, it is not familiarized with the majority of neurosurgeons and some TSOFS may be complicated with skull base vascular injury. If the supraorbital fissure surgery is performed without treatment of vascular injury, it may cause massive hemorrhage, and disability and even life-threatening in severe cases. At present, there is no consensus or guideline on the diagnosis and treatment of TSOFS that can be referred to both domestically and internationally. To improve the understanding of TSOFS among clinical physicians and establish standardized diagnosis and treatment plans, the Skull Base Trauma Group of the Neurorepair Professional Committee of the Chinese Medical Doctor Association, Neurotrauma Group of the Neurosurgery Branch of the Chinese Medical Association, Neurotrauma Group of the Traumatology Branch of the Chinese Medical Association, and Editorial Committee of Chinese Journal of Trauma organized relevant experts to formulate Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome ( version 2024) based on evidence of evidence-based medicine and clinical experience of diagnosis and treatment. This consensus puts forward 12 recommendations on the diagnosis, classification, treatment, efficacy evaluation and follow-up of TSOFS, aiming to provide references for neurosurgeons from hospitals of all levels to standardize the diagnosis and treatment of TSOFS.
3.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
4.Contamination status and molecular typing of Legionella pneumophila in artificial water environment in Shanghai hospitals from 2019 to 2020
Jiaying GAO ; Lingyue YUAN ; Yanxin CHEN ; Yong CHEN ; Jiayuan LUO ; Mingliang CHEN ; Min CHEN
Journal of Environmental and Occupational Medicine 2023;40(7):823-829
Background The incidence of Legionnaires' disease is increasing globally and artificial water environment is becoming a common source of outbreaks. Molecular typing techniques can help prevent and control Legionella. Objective To understand the molecular epidemiological characteristics of Legionella pneumophila in artificial water environment of Shanghai hospitals, and provide a scientific basis for the prevention and control of Legionnaires' disease. Methods Water samples were collected from artificial water environment in 14 hospitals from May to October each year from 2019 to 2020 in Shanghai. A total of 984 water samples were collected from 8 Grade-A tertiary hospitals and 6 non-Grade-A tertiary hospitals, including 312 samples of cooling water, 72 samples of chilled water, and 600 samples of tap water. The water samples were isolated and serotyped for Legionella pneumophila and preserved, and the positive rate of Legionella pneumophila in the samples was used as an indicator of contamination. The preserved strains were resuscitated and 81 surviving strains were obtained for pulsed field gel electrophoresis (PFGE) typing analysis. Results A total of 124 Legionella pneumophila positive water samples were detected, with a positive rate of 12.60%. The positive rate was higher in the Grade-A tertiary hospitals (16.54%, 87/526) than in the non-Grade-A tertiary hospitals (8.08%, 37/458) (χ2=15.91, P<0.001). The positive rate of cooling water (23.40%) was the highest among different types of water samples, and the difference was statistically significant (χ2=61.19, P<0.001). The difference in positive rate of tap water was statistically significant among different hospital departments (χ2=11.37, P<0.05). The positive rate in 2019 (15.06%) was higher than that in 2020 (9.84%) (χ2=6.23, P<0.05). From May to October, August had the highest annual average positive rate (16.46%) and October had the lowest (8.54%), but the difference in positive rates among months was not statistically significant (χ2=5.39, P=0.37). The difference in positive rate among districts was statistically significant (χ2=24.88, P<0.001). A total of 131 strains of Legionella pneumophila were isolated, with serotype 1 (80.15%, 105/131) predominating. Among the 81 surviving strains of Legionella pneumophila subjected to PFGE typing, the band-based similarity coefficients ranged from 41.30% to 100%. Among the 29 PFGE band types (S1-S29) recorded, each band type included 1-10 strains, and S28 was the dominant band type. Four clusters (I-IV) of PFGE band types were identified, accounting for 66.67% (54/81) of all strains and containing 13 band types. Conclusion Legionella pneumophila contamination is present in the artificial water environment of hospitals in Shanghai from 2019 to 2020, and the contamination in tap water deserves attention. The detected serotype of Legionella pneumophila is predominantly type 1, and PFGE typing reveals the presence of genetic polymorphism. Therefore, the monitoring and control of Legionella pneumophila in hospital artificial water environment should be strengthened.
5.Mechanical stress and melanoma: a retrospective analysis of 129 cases of plantar melanoma
Qingrong WU ; Xin GAO ; Lixia LU ; Fangfang LI ; Mingliang CHEN ; Shuang ZHAO ; Xiang CHEN ; Juan SU
Chinese Journal of Dermatology 2022;55(10):850-853
Objective:To analyze potential roles of mechanical stress in the formation of plantar melanoma.Methods:A retrospective analysis was conducted on 129 cases of plantar melanoma in Xiangya Hospital, Central South University between 2014 and 2021, and the distribution and clinical characteristics of plantar melanoma were analyzed. The goodness-of-fit test was used to compare the distribution of plantar melanoma between weight-bearing areas (the toes, forefoot, lateral midfoot, heel) and non-weight-bearing areas of the foot (the arch) , while t test, Fisher′s exact test and Wilcoxon rank sum test were used to analyze differences in clinicopathological characteristics of plantar melanoma between weight-bearing areas and non-weight-bearing areas of the foot. Results:Among the 129 patients with plantar melanoma, 66 (51.2%) were males and 63 (48.8%) were females, and their age at onset was 60.6 ± 13.1 years. Plantar melanoma mostly occurred on the heel (65 lesions, 1.31 lesions per square centimeter) , followed by the forefoot (31 lesions, 0.41 lesions per square centimeter) , the bottom of the toes (15 lesions, 0.43 lesions per square centimeter) , lateral midfoot (11 lesions, 0.38 lesions per square centimeter) and the arch of foot (7 lesions, 0.16 lesions per square centimeter) . The goodness-of-fit test showed that melanoma was more prone to occur in the weight-bearing areas than in the non-weight-bearing areas ( χ2 = 66.59, P < 0.001) ; compared with the arch of foot, a higher incidence density was observed in the heel and forefoot ( χ2 = 38.29, 5.23, P < 0.001, = 0.022, respectively) . There were no significant differences in the gender ratio, age and occupation of patients, prevalence rates of left/right foot involvement, Breslow thickness, ulceration status, Clark grades, lymph node metastasis rate, and stages between melanomas in the weight-bearing areas and those in non-weight-bearing areas (all P > 0.05) . Conclusion:Plantar melanoma was more prone to occur in the weight-bearing areas than in the non-weight-bearing areas, suggesting that mechanical stress may be related to the occurrence and development of melanoma.
6.The clinical effect of living kidney transplantation between spouses
Xiang REN ; Baoshan GAO ; Xin LIAN ; Mo CHEN ; Mingliang FENG ; Honglan ZHOU
Chinese Journal of Organ Transplantation 2021;42(5):274-278
Objective:To investigate the clinical effect of spousal kidney transplantation , and to explore the significance in today's society.Methods:We retrospectively collected the relevant clinical data from the transplantation department of the first hospital of jilin university, from October 2009 to December 2018. Receptors who accepted spousal, parental and compatriot donor kidney is respectively obtained.Then the postoperative efficacy of the three groups were compared.Results:The graft survival rates of spousal kidney transplantation were 94.1% at 3 years and 83.7% at 5 years, which were not significantly different from other types of living kidney transplantation ( P=0.260). There was no significant difference in creatinine at each time point within 3 years after operation between three groups. At 3 years and 5 years after operation, there was no significant difference in creatinine between spouse group and sibling group.But the creatinine of spouse group was lower compared with parent group ( P=0.014, 0.038). The incidence of rejection within 1 years after spousal renal transplantation was 25%, which was significantly higher than parent group and sibling group ( P=0.029). Age of donor, gender of recipient, D/R BMI and incidence of AR or not in recipient were independent predictors for 1-year creatinine in living kidney transplantation (correlation coefficient: 0.048、-26.03、-15.95、10.23; P=0.003、<0.001、0.021、0.013). Conclusions:Spousal kidney transplantation has same clinical efficacy compared with other types of living kidney transplantation, which can greatly improve the donor kidney resource.So it worth being further promotion, but compared with other types of living kidney transplantation, we should be more alert to the incidence of rejection reaction, so as to obtain better curative effect.
7.Expert Consensus on Evaluation, Treatment and Rehabilitation of Traumatic Spinal Cord Injury
Jianjun LI ; Mingliang YANG ; Degang YANG ; Feng GAO ; Liangjie DU ; Limin LIAO ; Bohua CHEN ; Fang ZHOU ; Xuesong ZHANG ; Tiansheng SUN ; Baozhong ZHANG ; Xiaopei XIANG ; Lixia CHEN ; Hongjun ZHOU ; Songhuai LIU ; Zhihan SUN ; Ying LIU ; Xuan LIU ; Chunying HU ; Qiuchen HUANG ; Juan WU ; Fubiao HUANG ; Xiaoying ZHANG ; Jun LI ; Liang CHEN ; Hongwei LIU ; Huiming GONG
Chinese Journal of Rehabilitation Theory and Practice 2017;23(3):274-287
Spinal cord injury is a catastrophic injury causing lifelong severe disabilities, and poses a great burden to the individuals, families and society. In order to promote the standardization in treatment of traumatic spinal cord injury, the consensus on the evaluation, treatment and rehabilitation of traumatic spinal cord injury was suggested by experts, who came from authoritative multicenter in China. The expert consensus, which formed a standardization process from the first aid clinical treatment to rehabilitation of spinal cord injury, shall give a better practical guide for clinic and rehabilitation physicians.
8.Research Progress of Two-photon Microscopy in Small Animals in Vivo Imaging (review)
Wenhao ZHANG ; Jianjun LI ; Degang YANG ; Mingliang YANG ; Liangjie DU ; Feng GAO ; Changbin LIU ; Dapeng LI ; Anming HU ; Chang CAI
Chinese Journal of Rehabilitation Theory and Practice 2017;23(1):37-41
Twophoton microscopy is a new technique which combines laser scanning con-focal microscopy and two-photon excitation technique. Two-photon fluorescence microscopy has the advantages of little light damage, small bleaching area, strong penetrability, high resolution, high fluorescence collection efficiency, and high image contrast. It is suitable for dark field imaging and multi-labeled compound measurement, and has been widely used in small animals in vivo optical imaging, such as research for tumour, gene therapy, stem cells, drug development, spinal cord injury, etc.
9.Survey on Awareness of Upper Limb Function Reconstruction in Patients with Cervical Spinal Cord Injury
Jun LI ; Chong WANG ; Liangjie DU ; Hongwei LIU ; Mingliang YANG ; Feng GAO ; Yun GUO ; Liang CHEN ; Degang YANG ; Huiming GONG ; Jianjun LI
Chinese Journal of Rehabilitation Theory and Practice 2017;23(2):217-220
Objective To survey the attitudes and acceptance level of upper limb function reconstruction in patients with cervical spinal cord injury and analyze the related factors. Methods From October, 2013 to June, 2014, a total of 104 patients with cervical spinal cord injury were surveyed with self-designed questionnaire. Results There were 81 valid questionnaires, in which 3 patients (3.7%) heard of upper-extremity reconstructive surgery. The patients longed for upper limb function improvement most. After they had a understanding of the surgery, their willingness improved (P<0.01). No significant difference was found in the satisfaction degree and operation willingness between different hand function groups (P>0.05). The patients focused on the operation cost, the operation risk, recovery time after operation and the satisfaction of assistive devices, however, they were not correlated with the willingness of upper limb function reconstruction (P>0.05). Conclusion There is a clear gap between strong desire for functional improvement of upper limb and surgery awareness. It is important to communicate upper limb among patients with cervical spinal cord injury.
10.Research Progress of MicroRNA in Spinal Cord Injury (review)
Wenhao ZHANG ; Jianjun LI ; Degang YANG ; Pincao GAO ; Mingliang YANG ; Liangjie DU ; Feng GAO ; Fang TANG ; Changbin LIU ; Dapeng LI ; Xin ZHANG ; Jie ZHANG
Chinese Journal of Rehabilitation Theory and Practice 2017;23(6):649-653
MicroRNAs are short non-coding RNAs that regulate and control the translation of target genes, and play an important role in gene expression involved in the development of spinal cord and spinal cord injury, which constitute novel targets for therapeutic intervention to promote repair and regeneration of the spinal cord, also they are the potential biomarkers of spinal cord injury. This article reviewed the mechanism of microRNAs and listed several microRNAs in spinal cord injury area.

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