1.(Meta)transcriptomic Insights into the Role of Ticks in Poxvirus Evolution and Transmission: A Multicontinental Analysis.
Yu Xi WANG ; Jing Jing HU ; Jing Jing HOU ; Xiao Jie YUAN ; Wei Jie CHEN ; Yan Jiao LI ; Qi le GAO ; Yue PAN ; Shui Ping LU ; Qi CHEN ; Si Ru HU ; Zhong Jun SHAO ; Cheng Long XIONG
Biomedical and Environmental Sciences 2025;38(9):1058-1070
OBJECTIVE:
Poxviruses are zoonotic pathogens that infect humans, mammals, vertebrates, and arthropods. However, the specific role of ticks in transmission and evolution of these viruses remains unclear.
METHODS:
Transcriptomic and metatranscriptomic raw data from 329 sampling pools of seven tick species across five continents were mined to assess the diversity and abundance of poxviruses. Chordopoxviral sequences were assembled and subjected to phylogenetic analysis to trace the origins of the unblasted fragments within these sequences.
RESULTS:
Fifty-eight poxvirus species, representing two subfamilies and 20 genera, were identified, with 212 poxviral sequences assembled. A substantial proportion of AT-rich fragments were detected in the assembled poxviral genomes. These genomic sequences contained fragments originating from rodents, archaea, and arthropods.
CONCLUSION
Our findings indicate that ticks play a significant role in the transmission and evolution of poxviruses. These viruses demonstrate the capacity to modulate virulence and adaptability through horizontal gene transfer, gene recombination, and gene mutations, thereby promoting co-existence and co-evolution with their hosts. This study advances understanding of the ecological dynamics of poxvirus transmission and evolution and highlights the potential role of ticks as vectors and vessels in these processes.
Animals
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Poxviridae/physiology*
;
Ticks/virology*
;
Phylogeny
;
Transcriptome
;
Evolution, Molecular
;
Poxviridae Infections/virology*
;
Genome, Viral
2.Clinical trial of daglizin in the treatment of patients with acute myocardial infarction complicated with type 2 diabetes
Wei LIN ; Shang-Quan XIONG ; Ping ZHAN ; Li ZHAO ; Cui-Yun LI ; Chao LIN ; Fei-Ning LIN ; Ting WANG
The Chinese Journal of Clinical Pharmacology 2024;40(20):2924-2928
Objective To observe the influence of dapagliflozin tablets on myocardial enzymes,mitral valve blood flow and major adverse cardiovascular events(MACE)in patients with acute myocardial infarction(AMI)complicated with type 2 diabetes mellitus(T2DM)after interventional therapy.Methods AMI patients with T2DM were divided into control group and treatment group by cohort method.The control group was given aspirin tablets 300 mg and ticagrelor 180 mg orally,qd,until the day of interventional treatment.After interventional therapy,aspirin tablets 100 mg,qd,oral ticagrelor tablets 90 mg each time,once in the morning and once in the evening.On the basis of the treatment in the control group,the patients in the treatment group were given dapagliflozin tablets 5-10 mg,qd,every morning after admission.After 3 months of continuous treatment,the clinical efficacy,blood glucose control effect[fasting plasma glucose(FPG),2 hour postprandial blood glucose(2 h PG)],myocardial enzymes indicators[creatine kinase(CK),creatine kinase isoenzyme-MB(CK-MB)],ventricular remodeling indicators[left ventricular ejection fraction(LVEF),left ventricular end systolic diameter(LVESD)],adverse drug reactions and MACE were compared between the two groups.Results There were 55 cases in the control group and 59 cases in the treatment group.After treatment,the total effective rates of the treatment group and the control group were 88.14%(52 cases/59 cases)and 72.73%(40 cases/55 cases),respectively,the difference was statistically significant(P<0.05).After treatment,the FPG of the treatment group and the control group were(7.29±0.71)and(7.81±0.75)mmol·L-1,respectively;the 2 h PG were(8.66±1.33)and(9.59±1.38)mmol·L-1,respectively;the CK were(145.68±29.82)and(163.68±42.16)U·L-1,respectively;the CK-MB were(8.21±2.37)and(10.33±3.08)U·L-1,respectively;the LVEF were(57.63±8.74)%and(51.41±6.49)%,respectively;LVESD were(33.26±5.33)and(39.51±5.38)mm,respectively.The above indexes in the treatment group were significantly different from those in the control group(all P<0.05).During the treatment,the adverse drug reactions in the treatment group mainly included nausea and vomiting,diarrhea,constipation.The adverse drug reactions in the control group mainly included hypoglycemia,diarrhea,headache.The total incidence of adverse drug reactions in the treatment group and the control group was 6.68%(4 cases/59 cases)and 9.09%(5 cases/55 cases),respectively,and the difference was not statistically significant(P>0.05).After 3 months of follow-up,the total incidence of MACE in the treatment group and the control group was 5.08%and 18.18%,respectively,the difference was statistically significant(P<0.05).Conclusion Dapagliflozin has a significant efficacy in the treatment of AMI patients with T2DM,and it can enhance the effect of blood glucose control,reduce the myocardial injury,inhibit the ventricular remodeling,and reduce the risk of MACE,with high safety.
3.Adults Ischium Age Estimation Based on Deep Learning and 3D CT Reconstruction
Huai-Han ZHANG ; Yong-Jie CAO ; Ji ZHANG ; Jian XIONG ; Ji-Wei MA ; Xiao-Tong YANG ; Ping HUANG ; Yong-Gang MA
Journal of Forensic Medicine 2024;40(2):154-163
Objective To develop a deep learning model for automated age estimation based on 3D CT reconstructed images of Han population in western China,and evaluate its feasibility and reliability.Methods The retrospective pelvic CT imaging data of 1 200 samples(600 males and 600 females)aged 20.0 to 80.0 years in western China were collected and reconstructed into 3D virtual bone models.The images of the ischial tuberosity feature region were extracted to create sex-specific and left/right site-specific sample libraries.Using the ResNet34 model,500 samples of different sexes were randomly selected as training and verification set,the remaining samples were used as testing set.Initialization and transfer learning were used to train images that distinguish sex and left/right site.Mean absolute error(MAE)and root mean square error(RMSE)were used as primary indicators to evaluate the model.Results Prediction results varied between sexes,with bilateral models outperformed left/right unilateral ones,and transfer learning models showed superior performance over initial models.In the prediction results of bilateral transfer learning models,the male MAE was 7.74 years and RMSE was 9.73 years,the female MAE was 6.27 years and RMSE was 7.82 years,and the mixed sexes MAE was 6.64 years and RMSE was 8.43 years.Conclusion The skeletal age estimation model,utilizing is-chial tuberosity images of Han population in western China and employing the ResNet34 combined with transfer learning,can effectively estimate adult ischium age.
4.Bibliometric Analysis of Forensic Human Remains Identification Literature from 1991 to 2022
Ji-Wei MA ; Ping HUANG ; Ji ZHANG ; Hai-Xing YU ; Yong-Jie CAO ; Xiao-Tong YANG ; Jian XIONG ; Huai-Han ZHANG ; Yong CANG ; Ge-Fei SHI ; Li-Qin CHEN
Journal of Forensic Medicine 2024;40(3):245-253
Objective To describe the current state of research and future research hotspots through a metrological analysis of the literature in the field of forensic anthropological remains identification re-search.Methods The data retrieved and extracted from the Web of Science Core Collection (WoSCC),the core database of the Web of Science information service platform (hereinafter referred to as "WoS"),was used to analyze the trends and topic changes in research on forensic identification of human re-mains from 1991 to 2022.Network visualisation of publication trends,countries (regions),institutions,authors and topics related to the identification of remains in forensic anthropology was analysed using python 3.9.2 and Gephi 0.10.Results A total of 873 papers written in English in the field of forensic anthropological remains identification research were obtained.The journal with the largest number of publications was Forensic Science International (164 articles).The country (region) with the largest number of published papers was China (90 articles).Katholieke Univ Leuven (Netherlands,21 articles) was the institution with the largest number of publications.Topic analysis revealed that the focus of forensic anthropological remains identification research was sex estimation and age estimation,and the most commonly studied remains were teeth.Conclusion The volume of publications in the field of forensic anthropological remains identification research has a distinct phasing.However,the scope of both international and domestic collaborations remains limited.Traditionally,human remains identifica-tion has primarily relied on key areas such as the pelvis,skull,and teeth.Looking ahead,future re-search will likely focus on the more accurate and efficient identification of multiple skeletal remains through the use of machine learning and deep learning techniques.
5.Effect of LncRNAuc.48+on CGRP-mediated trigeminal neuralgi
Meng-Xia TAN ; Rao-Ping WU ; Ai-Xia ZHANG ; Yun GAO ; Wei XIONG
Chinese Pharmacological Bulletin 2024;40(10):1866-1871
Aim To investigate how the long non-cod-ing RNA uc.48+(lncRNA uc.48+)affected calci-tonin gene-related peptide(CGRP)in the trigeminal ganglion(TG)of rats with trigeminal neuralgia(TN)and its potential mechanism.Methods Chronic con-striction injury of the infraorbital nerve(CCI-ION)in rats was used to create the animal model for trigeminal neuralgia.After modeling,uc.48+siRNA was injec-ted locally via the infraorbital foramen to knock down lncRNA uc.48+,and uc.48+plasmid was transfect-ed into normal rats to over-express lncRNA uc.48+.The face mechanical pain threshold(MWT)of each group was measured by behavioral test,and the content and changes of CGRP in rat TG were observed using qPCR and protein blotting.The change in serum in-flammatory cytokine 1L-1β was determined using ELISA.Results The MWT in TN rats treated with the uc.48+siRNA increased significantly,but the protein and mRNA levels of CGRP in TG decreased significantly(P<0.01),and the level of 1L-1β de-creased as well(P<0.01).In addition,the MWT of normal rats transfected with uc.48+plasmid was sig-nificantly diminished,and the mRNA and protein lev-els of CGRP in TG were markedly elevated(P<0.01),as were the levels of 1L-1β(P<0.01),compared to normal rats.Conclusions Knocking out uc.48+in TN rats reduces pain,while overexpressing uc.48+exacerbates pain transmission in trigeminal neuralgia.The mechanism by which uc.48+small in-terference inhibits trigeminal neural pathology pain may be through decreasing CGRP expression in TG of rats with TN,therefore ameliorating mechanical pain sensi-tivity.
6.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.
7.Application of China-made Toumai? Robot in laparoscopic radical prostatectomy
Zhi-Feng WEI ; Yu-Hao CHEN ; Ze-Peng ZHU ; Qi JIANG ; Yu XIONG ; Feng-Feng LU ; Zhen-Qian SONG ; Bin JIANG ; Xiao-Feng ZHU ; Tian-Hao FENG ; Xiao-Feng XU ; Gang YANG ; Wu WEI ; Ai-Bing YAO ; Jing-Ping GE
National Journal of Andrology 2024;30(8):696-700
Objective:To evaluate the safety and efficiency of China-made Toumai Robot-assisted laparoscopic radical prosta-tectomy(LRP).Methods:This study included 40 cases of PCa treated from January 2023 to May 2023 by robot-assisted LRP with preservation of the bladder neck and maximal functional urethral length,15 cases with the assistance of Toumai Robot(the TMR group)and the other 25 with the assistance of da Vinci Robot as controls(the DVR group).We recorded the docking time,laparo-scopic surgery time,vesico-urethral anastomosis time,intraoperative blood loss and postoperative urinary continence,and compared them between the two groups.Results:Operations were successfully completed in all the cases.No statistically significant differ-ences were observed between the TMR and DVR groups in the docking time(6 min vs 5 min,P>0.05)or intraoperative blood loss(200 ml vs 150 ml,P>0.05).The TMR group,compared with the DVR group,showed a significantly longer median laparoscopic surgery time(146 min vs 130 min,P<0.05)and median vesico-urethral anastomosis time(19 min vs 16 min,P<0.05).There were no statistically significant differences between the TMR and DVR groups in the rates of urinary continence recovery immediately af-ter surgery(60.0%[9/15]vs 64.0%[16/25],P>0.05)or at 1 month(80.0%[12/15])vs(76.0%[19/25],P>0.05),3 months(93.3%[14/15])vs(92.0%[23/25],P>0.05)and 6 months postoperatively(100%[15/15])vs(96%[24/25],P>0.05).Conclusion:China-made Toumai? Robot surgical system is safe and reliable for laparoscopic radical prosta-tectomy,with satisfactory postoperative recovery of urinary continence.
8.Mechanism of icariin inhibiting the proliferation of human prostate cancer PC-3 cells:An exploration based on cell metabolomics
Tao WANG ; Wei WANG ; Wen-Jun XIONG ; Zi-Jing ZHANG ; Fei WANG ; Yao-Hui PENG ; Yan CHEN ; Hai-Ping ZENG ; Li-Jie LUO
National Journal of Andrology 2024;30(11):963-973
Objective:To study the mechanism of icariin inhibiting the proliferation of human PCa PC-3 cells based on cell metabolomics technology.Methods:We determined the proliferation activity of human PC-3 cells by methyl thiazolyl tetrazolium(MTT)assay,and compared the proliferation of the PC-3 cells among the control,5-fluorouracil and icariin intervention groups.Using the Bligh Dyer method,we extracted endogenous metabolites from the cells,analyzed the metabolic profile by ultra-high pressure liquid chromatography tandem quadrupole time-of-flight mass spectrometry,identified the differential metabolites by principal component anal-ysis and orthogonal partial least-squares discrimination analysis,and enriched the metabolic pathways based on the MetaboAnalyst data-base.Results:Icariin significantly inhibited the proliferation of human PCa PC-3 cells.A total of 89 differential metabolites were i-dentified,mainly including amino acids,phosphatidylcholine,phosphatidylethanolamine,lysophosphatidylcholine,and lysophosphati-dylethanolamine,all with the tendency to return to the normal level after icariin intervention.Icariin significantly downregulated the metabolic levels of the glycerophospholipid metabolites phosphatidylcholine,phosphatidylethanolamine,lysophosphatidylcholine and ly-sophosphatidylethanolamine,and upregulated those of amino acid metabolites tryptophan,leucine,and proline in the PC-3 cells.Conclusion:Icariin inhibits the proliferation of human PCa PC-3 cells,which may be closely related to its regulatory effect on lipid metabolism(glycerophospholipid metabolism)and amino acid metabolism.
9.Degenerative lumbar spondylolisthesis treated by posterolateral transarticular puncture lumbar interbody fusion under full visual endoscopy.
Liang XIONG ; Hong-Wei ZHAO ; Ming-Yi LUO ; Feng-Ping LIU ; Bin LU ; Yu-Xiang DENG
China Journal of Orthopaedics and Traumatology 2024;37(12):1145-1152
OBJECTIVE:
To explore clinical effect of percutaneous endoscopic posterolateral trans-facet lumbar interbody fusion (PE-PTLIF) in treating degenerative lumbar spondylolisthesis.
METHODS:
The data of 38 patients with degenerative lumbar spondylolisthesis treated with PE-PTLIF from December 2019 to June 2021 were retrospectively analyzed, including 18 males and 20 females, aged from 39 to 75 years old with an average of (60.2±8.9) years old;1 patient with L3,4, 23 patients with L4,5, 14 patients with L5S1;29 patients with degreeⅠand 9 patients with degreeⅡaccording to Meyerding grading. Operative time, intraoperative blood loss, drainage volume, postoperative hospital stay and complcations were observed, visual analogue scale (VAS) was used to evaluate degree of lumbar and leg pain before operation, 3 d and 3, 6 and 12 months after operation, respectively. Oswestry disability index (ODI) was used to evaluate degree of low back pain dysfunction before operation, 3, 6 and 12 months after operation. The modified MacNab standard was used to evaluate clinical efficacy at 12 months after operation. Dural sac cross-sectional area (DSCSA), intervertebral disc height (IDH), lumbar spondylolisthesis rate (SR), lumbar lordosis angle (LL) and segmental lordosis angle (SL) were compared before operation and 12 months after operation. Interbody fusion at 12 months was evaluated according to Bridwell intervertebral fusion standard.
RESULTS:
All patients were followed up for 13 to 28 months with an average of (18.47±4.12) months. The operative time was (181.68±19.34) min, intraoperative blood loss was (152.87±57.03) ml, drainage volume was (48.18±11.43) ml, and postoperative hospital stay was (9.45±2.18) d and 3 patients occurred complications. VAS of lumbar pain before operation, 3 days, 3, 6 and 12 months after operation were (6.68±1.16), (4.32±1.13), (2.18±0.70), (1.89±0.56) and (1.57±0.72), respectively. VAS of leg pain were (6.24±1.42), (2.95±1.09), (1.76±0.71), (1.68±0.74) and (1.26±0.69) respectively. Preoperative and postoperative 3, 6 and 12 months of ODI were (63.21±11.21) %, (25.24±6.46) %, (20.97±6.26) % and (17.73±5.88) %, respectively. Postoperative VAS of lumbar and leg pain and ODI were significantly lower than those of preoperative time points (P<0.05). According to the modified MacNab standard, 23 patients got excellent result, 10 good, 3 fair, and 2 poor at 12 months after operation. Postoperative DSCSA, IDH, SR, LL and SL at 12 months were (128.32±21.95) mm2, (11.19±1.66) mm, (4.44±2.19)%, (49.32±5.63)°, (9.16±1.90)°, respectively, and were improved compared with preoperative [(58.36±18.11) mm2, (8.19±2.06) mm (18.43±4.78) %, (42.38±4.94) ° and (8.06±2.06) °] (P<0.05). Thirty-four patients obtained gradeⅠfusion, 3 patients woth gradⅡfusion and 1 patient with grade Ⅲ fusion at 12 months after operation according to Bridwell intervertebral fusion standard.
CONCLUSION
PE-PTLIF could provide effective method for the treatment of gradeⅠand gradeⅡdegenerative lumbar spondylolisthesis. It has advantages of less bleeding, sufficient decompression, fast postoperative recovery and high fusion rate, which could effectively relieve lumbar and leg pain, restore vertebral space height and improve lumbar sagittal balance. PE-PTLIF is a safe and minimally invasive surgery.
Humans
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Male
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Female
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Spondylolisthesis/surgery*
;
Middle Aged
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Spinal Fusion/methods*
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Lumbar Vertebrae/surgery*
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Aged
;
Adult
;
Retrospective Studies
;
Endoscopy/methods*
10.Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses.
Dan Dan TAN ; Yi Dan LIU ; Yan Bin FAN ; Cui Jie WEI ; Dan Yang SONG ; Hai Po YANG ; Hong PAN ; Wei Li CUI ; Shan Shan MAO ; Xiang Ping XU ; Xiao Li YU ; Bo CUI ; Hui XIONG
Chinese Journal of Pediatrics 2023;61(4):345-350
Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Humans
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Abnormalities, Multiple
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Retrospective Studies
;
Intellectual Disability/genetics*
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Bone Diseases, Developmental/complications*
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Tooth Abnormalities/complications*
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Facies
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Muscular Dystrophy, Duchenne/complications*
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Muscular Atrophy, Spinal/complications*
;
Carrier Proteins
;
Nuclear Proteins

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