1.Continuous lumbar drainage improves prognosis in patients with acute hydrocephalus after aneurysmal subarachnoid hemorrhage
Tangmin WEN ; Jun SU ; Jiahe TAN ; Yuanjun XIN ; Xudong CHE ; Yidan LIANG ; Jiewen DENG ; Xiaolin YANG ; Zhaohui HE
Journal of Army Medical University 2024;46(4):384-390
Objective To analyze the influence of drainage volume on prognosis of acute hydrocephalus(AHC)after aneurysmal subarachnoid hemorrhage(aSAH)by continuous lumbar drainage.Methods A retrospective trial was conducted on 82 AHC patients after aSAH admitted to the First Affiliated Hospital of Chongqing Medical University between January 2017 and January 2022.In 6 months after discharge,modified Rankin Scale(mRS)score was used to evaluate the prognostic outcomes.Univariate and multivariate logistic regression analyses were performed on demographic factors,severity of subarachnoid hemorrhage(SAH)at admission,medical history,cerebral vasospasm,and lumbar drainage data.Then a nomogram prediction model was constructed.Results Univariate analysis found that World Federation of Neurosurgical Societies(WFNS)score,Hunt-Hess grade,modified Fisher grade,time for continuous lumbar drainage,shunt dependence,cerebral vasospasm,and drainage volume were factors affecting the prognosis of the patients.Then logistic regression analysis revealed that high WFNS score(OR:3.25,95%CI:1.11~9.48),high modified Fisher grade(OR:3.66,95%CI:1.08~12.35),shunt dependence(OR:15.56,95%CI:1.22~198.57),and cerebral vasospasm(OR:22.24,95%CI:3.08~160.68)were independent predictors for mRS score,while volume of continuous lumbar drainage(OR:0.57,95%CI:0.40~0.82)was an independent protective factor.ROC curve analysis indicated a good predictive performance of the model(AUC=0.898,95%CI:0.935~0.861).Internal validation through Bootstrap method demonstrated excellent discriminatory ability of the model(C-index=0.950,95%CI:0.904~0.996;adjusted C-index:0.934).Conclusion Increased volume of lumbar drainage is an independent protective factor for poor prognosis following aSAH and can improve the prognosis of SAH patients.
2.Nanomaterial-based Therapeutics for Biofilm-generated Bacterial Infections
Zhuo-Jun HE ; Yu-Ying CHEN ; Yang ZHOU ; Gui-Qin DAI ; De-Liang LIU ; Meng-De LIU ; Jian-Hui GAO ; Ze CHEN ; Jia-Yu DENG ; Guang-Yan LIANG ; Li WEI ; Peng-Fei ZHAO ; Hong-Zhou LU ; Ming-Bin ZHENG
Progress in Biochemistry and Biophysics 2024;51(7):1604-1617
Bacterial biofilms gave rise to persistent infections and multi-organ failure, thereby posing a serious threat to human health. Biofilms were formed by cross-linking of hydrophobic extracellular polymeric substances (EPS), such as proteins, polysaccharides, and eDNA, which were synthesized by bacteria themselves after adhesion and colonization on biological surfaces. They had the characteristics of dense structure, high adhesiveness and low drug permeability, and had been found in many human organs or tissues, such as the brain, heart, liver, spleen, lungs, kidneys, gastrointestinal tract, and skeleton. By releasing pro-inflammatory bacterial metabolites including endotoxins, exotoxins and interleukin, biofilms stimulated the body’s immune system to secrete inflammatory factors. These factors triggered local inflammation and chronic infections. Those were the key reason for the failure of traditional clinical drug therapy for infectious diseases.In order to cope with the increasingly severe drug-resistant infections, it was urgent to develop new therapeutic strategies for bacterial-biofilm eradication and anti-bacterial infections. Based on the nanoscale structure and biocompatible activity, nanobiomaterials had the advantages of specific targeting, intelligent delivery, high drug loading and low toxicity, which could realize efficient intervention and precise treatment of drug-resistant bacterial biofilms. This paper highlighted multiple strategies of biofilms eradication based on nanobiomaterials. For example, nanobiomaterials combined with EPS degrading enzymes could be used for targeted hydrolysis of bacterial biofilms, and effectively increased the drug enrichment within biofilms. By loading quorum sensing inhibitors, nanotechnology was also an effective strategy for eradicating bacterial biofilms and recovering the infectious symptoms. Nanobiomaterials could intervene the bacterial metabolism and break the bacterial survival homeostasis by blocking the uptake of nutrients. Moreover, energy-driven micro-nano robotics had shown excellent performance in active delivery and biofilm eradication. Micro-nano robots could penetrate physiological barriers by exogenous or endogenous driving modes such as by biological or chemical methods, ultrasound, and magnetic field, and deliver drugs to the infection sites accurately. Achieving this using conventional drugs was difficult. Overall, the paper described the biological properties and drug-resistant molecular mechanisms of bacterial biofilms, and highlighted therapeutic strategies from different perspectives by nanobiomaterials, such as dispersing bacterial mature biofilms, blocking quorum sensing, inhibiting bacterial metabolism, and energy driving penetration. In addition, we presented the key challenges still faced by nanobiomaterials in combating bacterial biofilm infections. Firstly, the dense structure of EPS caused biofilms spatial heterogeneity and metabolic heterogeneity, which created exacting requirements for the design, construction and preparation process of nanobiomaterials. Secondly, biofilm disruption carried the risk of spread and infection the pathogenic bacteria, which might lead to other infections. Finally, we emphasized the role of nanobiomaterials in the development trends and translational prospects in biofilm treatment.
3.Drug resistance mutation analysis of HIV-1 among blood donors in Dalian:2011-2020
Xiaohan GUO ; Xuelian DENG ; Xiaochun LIU ; Yingying WANG ; Liang ZANG ; Jun ZHOU
Chinese Journal of Blood Transfusion 2024;37(8):902-907
Objective To study the distribution and trend of HIV-1 drug resistance mutation in Dalian blood donors be-tween 2011 and 2020.Methods The protease-reverse transcriptase(PR-RT)region was sequenced in Dalian blood donors tested HIV-1 positive between 2011 and 2020.Drug resistance mutation(DRM)rate and level of resistance to selected drugs were analyzed by the Stanford HIV Drug Resistance Database.Results DRM were detected in 17.2%(30/174)of samples,while transmitted drug resistance(TDR)was5.7%(10/174).Between2011 and2020,DRM and TDR rates in-creased significantly in 2019 and reached their highest levels in 2020(44.4%and 22.2%,respectively).DRM carriage was associated with people with college degree or above and with local residents(P<0.05).NNRTI DRMs were the most fre-quently detected(12.6%,22/174),followed by PIs(5.7%,10/174),with V179D/E/T and M46I being the main DRMs detected.Only one HIV-1strain(0.57%,1/174)carried a NRTI DRM(L74I).The overall rate of predicted high level re-sistance to antiretroviral drugs was 6.9%(12/174),with the highest proportion of NNRTI resistance(83.3%,10/12).Two samples were classified as highly resistant to EFV and NVP,accounting for 1.1%(2/174).CRF55_01B strains showed a significantly higher DRM rate than strains of other HIV-1 genotypes(P<0.05).Conclusion Between 2011 and 2020,the rate of HIV-1 DRMs in blood donors in Dalian showed a significant upward trend,particularly in 2019-2020,with NNRTI resistance being the most common.The combination of DRMs detection before and after implementation of ART un-der the latest national ART treatment plan would improve the effectiveness of HIV-1 prevention and control locally.
4.Safety and efficacy of domestically produced novel bioabsorbable vascular scaff old in the treatment of complex coronary artery lesions for 3 years
Deng-Shuang ZHOU ; Qiong YOU ; Hai-Liang MO ; Zi-Jun WU ; Yu-Biao LIN ; Lu-Jun CHEN ; Jun-Yu FAN ; Yong-Jian LIN ; Rui-Sheng ZHANG ; Pei-Shan WAN ; Wei-Guo ZHOU ; Keng WU
Chinese Journal of Interventional Cardiology 2024;32(9):509-515
Objective To investigate the safety and efficacy of novel bioabsorbable vascular scaffold(BVS)in the treatment of patients with complex coronary artery disease.Methods This was a retrospective,matched,single-center observational study.45 patients with coronary atherosclerotic cardiopathy received BVS treatment in the cardiovascular medicine department Department of the Affiliated Hospital of Guangdong Medical University from June 2020 to June 2021(BVS),and 45 patients treated with drug-eluting stents(DES)group were selected according to matching study requirements during the same period.Baseline,surgical,and follow-up data were compared between the two groups to evaluate safety and efficacy.The main measures of safety were:surgical time,intraoperative adverse events,etc.,and the end point of efficacy was target lesion failure(TLF),including cardiac death,target vessel myocardial infarction,and ischa-driven target lesion revascularization.Results A total of 90 patients were enrolled in this study,all of whom were followed up for at least 3 years.There were 20 cases of bifurcation lesions and 25 cases of diffuse long lesions in the two groups,and 50 cases of imaging were reviewed among the 90 patients.The proportion of stable coronary heart disease,history of diabetes,history of hypertension,history of smoking,pre-dilated balloon pressure and postoperative diastolic blood pressure in BVS group was higher than that in DES group,and the proportion of family history was lower than that in DES group(all P<0.05).There were no statistically significant differences in the rates of cardiac death,target vessel myocardial infarction,and ischemia-driven revascularization of target lesions between the two groups(all P>0.05).Binary Logistic regression model analysis showed that the diameter stenosis ratio of target lesions was an independent risk factor for intrastent restenosis(OR 2.786,95%CI 1.096-7.081,P=0.031).Conclusions Compared with traditional DES,BVS implantation has consistent safety and efficacy in the treatment of complex coronary artery disease within 3 years.The diameter stenosis ratio of target lesions was an independent risk factor for intrastent restenosis.
5.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.
6.Single posterior osteotomy for the treatment of rigid cervical spine deformities
Xiaoyu CAI ; Tao XU ; Maimaiti MAIERDAN· ; Rui CAO ; Chuanhui XUN ; Weidong LIANG ; Jian ZHANG ; Qiang DENG ; Maimaiti PULATI· ; Jun SHENG ; Ting WANG ; Weibin SHENG
Chinese Journal of Orthopaedics 2024;44(19):1265-1272
Objective:To evaluate the safety and effectiveness of single posterior osteotomy in the correction of rigid cervical spine deformities (CSD) and to explore the indications and key surgical techniques involved.Methods:A retrospective analysis was conducted on the clinical data of 9 patients with rigid CSD who underwent single posterior osteotomy correction between June 2012 and June 2023 in the Department of Spine Surgery at the First Affiliated Hospital of Xinjiang Medical University. The cohort comprised 4 males and 5 females, with a mean age of 19.8±27.2 years (range, 7-48 years). Among these, 5 cases were congenital CSD, 3 were post-tuberculosis deformities, and 1 was iatrogenic. Various coronal and sagittal alignment parameters were measured, including C 1, 2 angle, cervical lordosis (CL), structural scoliosis angle (SSA), structural kyphosis angle (SKA), head tilt (HT), C 2-C 7 sagittal vertical axis (CSVA), sagittal vertical axis (SVA), coronal balance distance (CBD), T 1 slope (T 1S), and the difference between T 1 tilt and cervical lordosis (T 1S-CL). Clinical outcomes were assessed using the neck disability index (NDI), visual analogue scale (VAS), and Scoliosis Research Society-22 questionnaire (SRS-22). Results:The average operation time was 273.9±76.1 min, with an average blood loss of 472.2±128.8 ml. All 9 patients were followed up for an average of 45.2±41.8 months (range, 12-116 months). A total of 7 patients underwent single-segment osteotomies (C 3, C 6 and C 7: 1 case each; C 5: 4 cases), and 2 patients underwent double-segment osteotomies (C 2 and C 7, C 3 and C 4). Four cases involved pedicle subtraction osteotomy (PSO), while 7 cases required vertebral column resection. The upper instrumented vertebra (UIV) was located at the occiput in 1 case and in the cervical spine in 8 cases. The lower instrumented vertebra (LIV) was located in the upper thoracic spine in 6 cases and in the cervical spine in 3 cases, with 2 of the latter cases having both UIV and LIV in the cervical spine. The average number of fused segments was 7.6±4.4 segments (range, 2-12 segments). All patients achieved successful bone fusion within an average of 8.8±3.2 months (range, 6-12 months). Preoperatively, the mean values for CL, SSA, SKA, HT, and CBD were 19.8° (17.2°, 30.5°), 27.4°(23.3°, 30.4°), 28.4°(25.6°, 30.1°), 9.0°(6.2°, 12.3°), and 18.5(12.3, 23.6) mm, respectively. Postoperative improvements were noted with values of -11.1°(-8.8°, -14.4°), 1.3°(0.8°, 1.6°), -11.1°(-8.6°, -14.5°), 1.6°(0.5°, 2.2°), and 9.4 (4.8-13.5) mm, respectively. At the final follow-up, these parameters were maintained, with values of -11.0°(-8.8°, -14.3°), 1.2°(0.8°, 1.5°), -11.0° (-8.6°, -14.3°), 1.5°(0.5°, 2.2°), and 9.4(4.8, 13.4) mm, respectively. Statistically significant improvements were observed between preoperative and postoperative measurements ( P<0.05), except for C 1, 2 angle, CSVA, SVA, T 1S, and T 1S-CL ( P>0.05). NDI and SRS-22 scores showed significant improvements postoperatively ( P<0.05), while VAS scores did not show a significant change ( P>0.05). Postoperative complications included transient nerve injury in two patients, one case of right central retinal artery occlusion, and one case of vertebral artery injury. Conclusion:This study confirms the safety and efficacy of single posterior osteotomy for treating rigid CSD of various etiologies. Standard PSO or modified techniques are effective for correcting cervical kyphosis, while hemivertebra resection and concave-side distraction are recommended for congenital scoliosis or kyphoscoliosis.
7.Experience in Diagnosis and Treatment of Oculomotor Nerve Palsy based on Channel Pattern Differentiation
Tao ZHU ; Xingyou DENG ; Yanping GUO ; Song LI ; Jun LIANG ; Yunli DIAN ; Lijun HUANG ; Jing SHI ; Yiping LIN
Journal of Traditional Chinese Medicine 2023;64(22):2372-2376
It is believed that the basic pathogenesis of oculomotor nerve paralysis (ONP) is qi and blood depletion and channel obstruction. Taking channel pattern differentiation as the core, it is recommended to use acupuncture mainly based on location, syndrome and channel deficiency-excess differentiation. Location and channel tropism differentiation mainly follows the principle of “where the channels and collaterals pass, the main treatment can reach”, and commonly uses acupuncture points on Dumai (督脉), the hand Shaoyang (少阳) Sanjiao (三焦) channel, the hand Taiyang (太阳) small intestine channel, three yang channels of the foot, the hand Shaoyin (少阴) heart channel, the foot Jueyin (厥阴) liver channel, and others, and combines scalp acupuncture with electro-acupuncture to enhance channel stimulation. Pattern and channel tropism differentiation is to differentiate the entered channel according to clinical symptoms and zang-fu patterns. The differentiation of deficiency-excess should be payed attention to, and the principle of “supplementing the deficiency, and draining the excess” should be followed. The supplementing and draining method should be used rationally by considering the differences in the supplementing and draining acupoints themselves, as well as the actual condition of the patients. Simultaneously, it is suggested to combine manipulation and stimulation amount and effect in clinical practice.
8.Dissection of Cellular Communication between Human Primary Osteoblasts and Bone Marrow Mesenchymal Stem Cells in Osteoarthritis at Single-Cell Resolution
Ying LIU ; Yan CHEN ; Xiao-Hua LI ; Chong CAO ; Hui-Xi ZHANG ; Cui ZHOU ; Yu CHEN ; Yun GONG ; Jun-Xiao YANG ; Liang CHENG ; Xiang-Ding CHEN ; Hui SHEN ; Hong-Mei XIAO ; Li-Jun TAN ; Hong-Wen DENG
International Journal of Stem Cells 2023;16(3):342-355
Background and Objectives:
Osteoblasts are derived from bone marrow mesenchymal stem cells (BMMSCs) and playimportant role in bone remodeling. While our previous studies have investigated the cell subtypes and heterogeneity in osteoblasts and BMMSCs separately, cell-to-cell communications between osteoblasts and BMMSCs in vivo in humans have not been characterized. The aim of this study was to investigate the cellular communication between human primary osteoblasts and bone marrow mesenchymal stem cells.
Methods:
and Results: To investigate the cell-to-cell communications between osteoblasts and BMMSCs and identifynew cell subtypes, we performed a systematic integration analysis with our single-cell RNA sequencing (scRNA-seq) transcriptomes data from BMMSCs and osteoblasts. We successfully identified a novel preosteoblasts subtype which highly expressed ATF3, CCL2, CXCL2 and IRF1. Biological functional annotations of the transcriptomes suggested that the novel preosteoblasts subtype may inhibit osteoblasts differentiation, maintain cells to a less differentiated status and recruit osteoclasts. Ligand-receptor interaction analysis showed strong interaction between mature osteoblasts and BMMSCs. Meanwhile, we found FZD1 was highly expressed in BMMSCs of osteogenic differentiation direction. WIF1 and SFRP4, which were highly expressed in mature osteoblasts were reported to inhibit osteogenic differentiation. We speculated that WIF1 and sFRP4 expressed in mature osteoblasts inhibited the binding of FZD1 to Wnt ligand in BMMSCs, thereby further inhibiting osteogenic differentiation of BMMSCs.
Conclusions
Our study provided a more systematic and comprehensive understanding of the heterogeneity of osteogenic cells. At the single cell level, this study provided insights into the cell-to-cell communications between BMMSCs and osteoblasts and mature osteoblasts may mediate negative feedback regulation of osteogenesis process.
9.Implementation and revision of the Measures for the Management of Radiation Workers’ Occupational Health
Shiyue CUI ; Yinping SU ; Fengling ZHAO ; Zhiwei XING ; Li LIANG ; Juan YAN ; Yuanyuan ZHANG ; Bo WANG ; Jianxiang LIU ; Changsong HOU ; Erdong CHEN ; Jun DENG ; Quanfu SUN
Chinese Journal of Radiological Health 2023;32(3):335-340
Since the implementation of the Measures for the Management of Radiation Workers’ Occupational Health in November 2007, it has played an extremely important role in protecting the occupational health of radiation workers. There are more than 700 000 radiation workers in about 100 000 workplaces with potential radiation exposure, as well as a large number of miners exposed to high levels of radon. As the radiation health monitoring project suggests, measures of occupational health management such as personal dose monitoring and occupational health examination of radiation workers have been widely implemented and achieved good results in the protection of radiation workers. However, the risks of chromosomal aberration and specific turbidity of the eye lens of radiation workers have increased in high-risk positions such as interventional radiology, nuclear medicine, and industrial flaw detection. The control of high radon exposure in miners needs to be strengthened. It is necessary to adapt to the new situation in view of new challenges and actively promote the revision of the Measures for the Management of Radiation Workers’ Occupational Health, so as to further improve the occupational health management of radiation workers in China.
10.Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations.
Guang Yu ZHANG ; Zhi Jun CAI ; Xiao Li ZHANG ; Lei YANG ; Yi Zhe LI ; Liang Kui WEI ; Yang Ping ZHANG ; Ping Ping CHANG ; Deng Na ZHU
Chinese Journal of Pediatrics 2023;61(4):339-344
Objective: To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations. Methods: Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data. Results: Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316_317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient. Conclusions: Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.
Female
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Humans
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Infant
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Male
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Benserazide/therapeutic use*
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Dystonia/genetics*
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Hypokinesia/drug therapy*
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Levodopa/pharmacology*
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Muscle Hypotonia
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Retrospective Studies
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Tyrosine 3-Monooxygenase/genetics*

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