1.Outcomes of transcatheter transseptal mitral valve-in-valve replacement using Edward's SAPIEN 3 in high surgical risk patients-a multicenter study in China
Xiang CHEN ; Bin WANG ; Yi-wei XU ; Xiao-ping PENG ; Fan QIAO ; Xiang-wen LIANG ; Ke HAN ; Xiao-fei JIANG ; Xiang MA ; Wen-yi YANG ; Guo-sheng FU ; Mao-long SU ; Yan WANG
Chinese Journal of Interventional Cardiology 2025;33(2):79-86
Objective To evaluate the safety and efficacy of valve-in-valve transcatheter mitral valve replacement(ViV-TMVR)in patients with bioprosthetic valve degeneration who are at high surgical risk.Methods This study is a multi-center,retrospective cohort analysis of 20 consecutive patients who underwent transseptal ViV-TMVR using the Edwards SAPIEN 3 transcatheter heart valve(THV).The primary endpoints include technical success and procedural success,both defined according to the Mitral Valve Academic Research Consortium(MVARC)criteria,as well as mortality and functional change assessed based on New York Heart Association(NYHA)classification at 30-days and six months post-procedure.Clinical follow-up assessments are conducted at 30-days and six months.Results From February 2021 to October 2022,a total of 20 patients with symptoms of bioprosthetic valve degeneration were enrolled across nine sites in China.The patients had a mean age of(73.5±5.5)years,with 85.0%being females and 70.0%classified as NYHA class Ⅲ/Ⅳ.The study achieved a 100.0%technical success rate and a 90.0%procedural success rate finally.All patients remained alive during the 30-day follow-up period.However,six months post-intervention,two patients(10.0%)were re-hospitalized due to heart failure,and sadly,one of them(5.0%)died.None of the patients reported any adverse events related to ViV-TMVR during the follow-up period.Notably,there was a significant improvement in NYHA class compared to baseline(P=0.0004)at six-month follow-ups.Conclusions The transseptal ViV-TMVR technique proved to be highly successful and was associated with significant improvement in NYHA class function.These findings strongly suggest that it serves as a safe and efficient treatment alternative for high-risk patients suffering from bioprosthetic valve degeneration.
2.Outcomes of transcatheter transseptal mitral valve-in-valve replacement using Edward's SAPIEN 3 in high surgical risk patients-a multicenter study in China
Xiang CHEN ; Bin WANG ; Yi-wei XU ; Xiao-ping PENG ; Fan QIAO ; Xiang-wen LIANG ; Ke HAN ; Xiao-fei JIANG ; Xiang MA ; Wen-yi YANG ; Guo-sheng FU ; Mao-long SU ; Yan WANG
Chinese Journal of Interventional Cardiology 2025;33(2):79-86
Objective To evaluate the safety and efficacy of valve-in-valve transcatheter mitral valve replacement(ViV-TMVR)in patients with bioprosthetic valve degeneration who are at high surgical risk.Methods This study is a multi-center,retrospective cohort analysis of 20 consecutive patients who underwent transseptal ViV-TMVR using the Edwards SAPIEN 3 transcatheter heart valve(THV).The primary endpoints include technical success and procedural success,both defined according to the Mitral Valve Academic Research Consortium(MVARC)criteria,as well as mortality and functional change assessed based on New York Heart Association(NYHA)classification at 30-days and six months post-procedure.Clinical follow-up assessments are conducted at 30-days and six months.Results From February 2021 to October 2022,a total of 20 patients with symptoms of bioprosthetic valve degeneration were enrolled across nine sites in China.The patients had a mean age of(73.5±5.5)years,with 85.0%being females and 70.0%classified as NYHA class Ⅲ/Ⅳ.The study achieved a 100.0%technical success rate and a 90.0%procedural success rate finally.All patients remained alive during the 30-day follow-up period.However,six months post-intervention,two patients(10.0%)were re-hospitalized due to heart failure,and sadly,one of them(5.0%)died.None of the patients reported any adverse events related to ViV-TMVR during the follow-up period.Notably,there was a significant improvement in NYHA class compared to baseline(P=0.0004)at six-month follow-ups.Conclusions The transseptal ViV-TMVR technique proved to be highly successful and was associated with significant improvement in NYHA class function.These findings strongly suggest that it serves as a safe and efficient treatment alternative for high-risk patients suffering from bioprosthetic valve degeneration.
3.Application study of virtual reality glove and handle in helicopter rescue training
Yihui WANG ; Yan JIANG ; Yuhua ZHOU ; Lei NIE ; Xiaojuan ZHU ; Huiqiu SHENG ; Feng JING ; Enqiang MAO ; Erzhen CHEN
Chinese Journal of Aerospace Medicine 2024;35(1):51-55
Objective:To explore a better virtual reality (VR) aviation rescue training mode and equipment platform by comparing the application of VR gloves and handle.Methods:A control study was used. Forty undergraduate students were enrolled by using cluster sampling method in this study. They were averagely divided into VR glove group and the VR handle group. Both groups were respectively trained with VR glove and VR handle based on an aviation rescue script of the craniocerebral trauma in traffic accident and the training effect was analyzed by comparing the assessments between VR training and reality simulation. The assessment were conducted both by VR and actual operation trainings and the content included operation, evaluation judgment, and total training time consumed. After the training was completed, the students of 2 groups were investigated by questionnaire.Results:In the VR assessment, the training time for the VR handle group [(26.94±2.00) min] was lower than that of the VR glove group [(31.23±2.23) min], and the difference was significant ( t=6.42, P<0.001). In the reality simulation assessment, the operation score of the VR glove group [(37.80±7.08) points] was higher than that of the VR handle group [(30.40±6.07) points], with a significant difference ( t=3.55, P<0.001). There was no significant difference between the scores of VR assessment and reality simulation assessment in the VR glove group. The reality simulation operation score of the VR handle group [(30.40±6.07) points] was lower than the VR operation score [(36.20±8.15) points], and the difference was significant ( t=2.55, P=0.015). The reality simulation operation time [(30.25±1.66) min] was higher than the VR operation time [(26.94±2.00) min], and the difference was significant ( t=5.59, P<0.001).The scores of assessing operation diversity and the integration with reality in VR glove group were higher than that in VR handle group ( Z=-4.00, -2.00, P<0.001,=0.045), but the scores of positioning accuracy and button functions were lower ( Z=-2.30, t=5.70, P=0.022,<0.001). Conclusions:VR technology has some advantages in helicopter aviation rescue training, has a broad prospect. As the VR human-machine data exchange equipment, both gloves and handles could bring good training effect even they have their own disadvantages. It is still necessary to improve VR software and equipment, and promote the quality of air rescue training in multiple aspects.
4.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
5.Application study of virtual reality glove and handle in helicopter rescue training
Yihui WANG ; Yan JIANG ; Yuhua ZHOU ; Lei NIE ; Xiaojuan ZHU ; Huiqiu SHENG ; Feng JING ; Enqiang MAO ; Erzhen CHEN
Chinese Journal of Aerospace Medicine 2024;35(1):51-55
Objective:To explore a better virtual reality (VR) aviation rescue training mode and equipment platform by comparing the application of VR gloves and handle.Methods:A control study was used. Forty undergraduate students were enrolled by using cluster sampling method in this study. They were averagely divided into VR glove group and the VR handle group. Both groups were respectively trained with VR glove and VR handle based on an aviation rescue script of the craniocerebral trauma in traffic accident and the training effect was analyzed by comparing the assessments between VR training and reality simulation. The assessment were conducted both by VR and actual operation trainings and the content included operation, evaluation judgment, and total training time consumed. After the training was completed, the students of 2 groups were investigated by questionnaire.Results:In the VR assessment, the training time for the VR handle group [(26.94±2.00) min] was lower than that of the VR glove group [(31.23±2.23) min], and the difference was significant ( t=6.42, P<0.001). In the reality simulation assessment, the operation score of the VR glove group [(37.80±7.08) points] was higher than that of the VR handle group [(30.40±6.07) points], with a significant difference ( t=3.55, P<0.001). There was no significant difference between the scores of VR assessment and reality simulation assessment in the VR glove group. The reality simulation operation score of the VR handle group [(30.40±6.07) points] was lower than the VR operation score [(36.20±8.15) points], and the difference was significant ( t=2.55, P=0.015). The reality simulation operation time [(30.25±1.66) min] was higher than the VR operation time [(26.94±2.00) min], and the difference was significant ( t=5.59, P<0.001).The scores of assessing operation diversity and the integration with reality in VR glove group were higher than that in VR handle group ( Z=-4.00, -2.00, P<0.001,=0.045), but the scores of positioning accuracy and button functions were lower ( Z=-2.30, t=5.70, P=0.022,<0.001). Conclusions:VR technology has some advantages in helicopter aviation rescue training, has a broad prospect. As the VR human-machine data exchange equipment, both gloves and handles could bring good training effect even they have their own disadvantages. It is still necessary to improve VR software and equipment, and promote the quality of air rescue training in multiple aspects.
6.Expert consensus on antiviral therapy of COVID-19
Fujie ZHANG ; Zhuo WANG ; Quanhong WANG ; Qing MAO ; Jinsong BAI ; Hanhui YE ; Jia TIAN ; Tianxin XIANG ; Jihong AN ; Zujiang YU ; Wenjie YANG ; Xingxiang YANG ; Xiaoju ZHANG ; Jie ZHANG ; Lina ZHANG ; Xingwang LI ; Jiabin LI ; Manxiang LI ; Zhiwei LI ; Hourong ZHOU ; Yi SHI ; Xiaoling XU ; Xiaoping TANG ; Hong TANG ; Xixin YAN ; Wenxiang HUANG ; Chaolin HUANG ; Liang DONG ; Baosong XIE ; Jiandong JIANG ; Bin XIONG ; Xuemei WEI ; Jifang SHENG ; Ronghua JIN
Chinese Journal of Clinical Infectious Diseases 2023;16(1):10-20
COVID-19 is caused by a novel coronavirus-severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), which has being spreading around the world, posing a serious threat to human health and lives. Neutralizing antibodies and small molecule inhibitors for virus replication cycle are the main antiviral treatment for novel coronavirus recommended in China. To further promote the rational use of antiviral therapy in clinical practice, the National Center for Infectious Diseases (Beijing Ditan Hospital Capital Medical University and the First Affiliated Hospital, Zhejiang University School of Medicine) invited experts in fields of infectious diseases, respiratory and intensive care to develop an Expert Consensus on Antiviral Therapy of COVID-19 based on the Diagnosis and Treatment Guideline for COVID-19 ( trial version 10) and experiences in the diagnosis and treatment of COVID-19 in China. The consensus is concise, practical and highly operable, hopefully it would improve the understanding of antiviral therapy for clinicians and provide suggestions for standardized medication in treatment of COVID-19.
7.Feasibility of evaluating coronary artery calcium score on virtual non-contrast scan in dual-layer spectral detector CT
Panpan Yang ; Lu Lu ; Mao Sheng ; Ruomei Li ; Ji Zhang ; Yuqi Jiang ; Xinna Zhang ; Wei Deng ; Yuguo Li ; Shutian An ; Ren Zhao ; Yongqiang Yu ; Xiaohu Li
Acta Universitatis Medicinalis Anhui 2023;58(4):692-697
Objective:
To evaluate the accuracy and feasibility of coronary artery calcium score ( CACS) on virtual non-contrast scan ( VNC) images obtained from coronary artery CT angiography ( CCTA) scan with dual -layer spectral detector CT (SDCT) .
Methods :
The data of 197 patients who underwent CCTA scan in hospital were analyzed retrospectively,and 88 patients with CACS >0 were further analyzed. Linear regression analysis of CACS and coronary artery calcium volume ( CACV) of true non-contrast (TNC) images and VNC images ( CACS-TNC, CACS-VNC,CACV-TNC,CACV-VNC) was performed to obtain linear regression equation and correction coefficients λ 1AVG and λ2AVG .CACS-VNC and CACV-VNC were corrected by the corresponding regression equation and recorded as CCACS-VNC and CCACV-VNC,respectively.Spearman correlation coefficient was used for correlation analysis and Bland-Altman plot was used for consistency test.Mann-Whitney U test was used to compare the difference between the two groups.
Results :
For the total coronary artery,there was a strong correlation between CACS- TNC and CACS-VNC (rs = 0. 952,P <0. 001 ,λ 1AVG = 2. 19 ) ,CACV-TNC and CACV-VNC ( rs = 0. 954,P < 0. 001,λ2AVG = 1. 93) .The results of Mann-Whitney U test showed that there was no significant difference between CACS-TNC and CCACS-VNC or between CACV-TNC and CCACV-VNC,and the Bland-Altman plot showed good consistency between CACS-TNC and CCACS-VNC ,CACV-TNC and CCACV-VNC.
Conclusion
VNC images based on SDCT can accurately measure CACS and be used for cardiovascular risk classification,which is expected to replace TNC scan and reduce the radiation dose of patients.
8.Effect of freshening technique on docking site in tibial bone transport management.
Xing TENG ; Lei HUANG ; Sheng-Song YANG ; Tao WANG ; Mao-Qi GONG ; Xie-Yuan JIANG
China Journal of Orthopaedics and Traumatology 2022;35(10):914-920
OBJECTIVE:
To study the effect of freshening technique on docking site in tibial bone transport management.
METHODS:
Retrospective cohort study was conducted about the effect of freshening technique on docking site in 20 cases(15 males and 5 females) treated with tibial bone transport from January of 2014 to December of 2019. The age of patients ranged from 19 to 62 years old, with an average of (42.3±11.5)years old. Seven patients had infectious bone defect and 13 patients had non-infectious. Application of freshening technique immediately after docking included resection of invaginated skin or soft tissue, removal of closed sclerotic bone, re-apposition, increasing the contact, acute compression of freshened docking site and grafting from adjacent medullary or bone debris, followed by post-operative gradual compression.
RESULTS:
The amount of segmented bone defect ranged from 5 to 15 cm, with an average of(9.2±2.9) cm. Time required from osteotomy to contact of butt end ranged from 26 to 243 days, with an average of(109.1±51.1) days. The duration needed from 3 to 7 months with an average of(3.7±1.1) months before reaching radiological healing criterion in docking site. Fourteen out of 15 concurrent fibular osteotomy were united. Consolidation time for distracted callus ranged from 5 to 28 months, with an average of (15.0±6.5) months. Bone healing index(BHI) ranged from 0.8 to 2.8 months/cm, with an average of (1.6±0.5) months. One surgical site infection (5%) in tibial was noted. No refractures were found in follow-up ranged from 12 to 73 months, with an average of(37.6±20.3) months after fixator removal.
CONCLUSION
Freshening technique immediately after docking had advantages of the shorter healing time, avoidance of refracture, and independance of necessity for remote autograft harvest.
Adult
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Female
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Humans
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Male
;
Middle Aged
;
Young Adult
;
Osteotomy
;
Retrospective Studies
;
Tibia/surgery*
;
Tibial Fractures/surgery*
;
Treatment Outcome
;
Ilizarov Technique
;
Osteogenesis, Distraction
9.Efficacy of in-situ full-left/full-right split liver transplantation for adult recipients using the living donor liver transplantation technique:a single-center report of 25 cases.
Sheng Dong WU ; Jing HUANG ; Jiong Ze FANG ; Chang Jiang LU ; Gao Qing WANG ; Ke WANG ; Sheng YE ; Wei JIANG ; Hong Da ZHU ; Yang Ke HU ; Shu Qi MAO ; Cai De LU
Chinese Journal of Surgery 2022;60(10):906-914
Objective: To evaluate the efficacy of in-situ full size split liver transplantation(fSLT) for adult recipients using the living donor liver transplantation(LDLT) technique and to compare the characteristics of the left hemiliver graft (LHG) and the right hemiliver graft(RHG)transplantation. Methods: Deceased donor and recipient data of 25 consecutive cases of fSLT at Department of Hepatopancreatobiliary Surgery, Ningbo Medical Center Lihuili Hospital from March to December 2021 was retrieved and the patients divided into two groups:LHG group and RHG group. Among the 13 donors,11 were male and 2 were female,aged (M(IQR))38(19) years(range: 25 to 56 years),with height of 168(5) cm(range:160 to 175 cm) and weight of 65(9) kg(range: 50 to 75 kg). The median age of the 25 recipients was 52(14) years(range:35 to 71 years),17 were male and 8 were female,15 had primary liver cancer and 10 had benign end-stage liver disease,model for end-stage liver disease score was 10(9) points(range:7 to 23 points). Of the 25 recipients,10 recipients had previously undergone hepatobiliary surgery. The follow-up period was to January 2022. Demographic,clinicopathological,surgical outcomes and postoperative complications were evaluated and compared between the two groups. Continuous quantitative data were compared using Mann-Whitney U test. Classification data were expressed as frequencies,and were compared between groups using χ2 test or Fisher exact probability method. Results: Using LDLT technique,in-situ full-left/full-right liver splitting was performed and 13 viable pairs of hemiliver grafts were harvested with acquisition time of 230(53) minutes(range:125 to 352 minutes) and blood loss of 250(100) ml(range:150 to 1 000 ml). A total of 25 hemiliver grafts(13 LHG and 12 RHG) were allocated to patients listed for liver transplantation in our center by China Organ Transplant Response System. In the LHG group(13 cases),there were more females and more patients with benign end-stage liver disease than in the RHG group(12 cases)(P<0.05). The body weight and graft weight of recipients in the LHG group were lower than that in RHG group(both P<0.05). There were no significant differences in other baseline data between the two groups(all P>0.05). The graft to recipient weight ratio(GRWR) was 1.2(0.4)%(range:0.7% to 1.9%) for 25 recipients,1.1(0.5)%(range:0.7% to 1.6%)for the LHG group and 1.3(0.5)%(range:0.9% to 1.9%)for the RHG group. There was no significant difference between the two groups (P>0.05). Sharing patterns of hepatic vessels and the common bile duct are as follows:all the trunk of middle hepatic vein were allocated to the LHG group. The proportion of celiac trunk,main portal vein and common bile duct assigned to LHG and RHG was 10∶3 (P=0.009), 9∶4 (P>0.05) and 4∶9 (P=0.027),respectively. The vena cava of 12 donors in early stage retained in LHG and that of last one was shared between LHG and RHG (P<0.01). The median cold ischemia time of 25 hemiliver grafts was 240(90) minutes(range:138 to 420 minutes). For the total of 25 fSLT,the median anhepatic phase was 50(16) minutes(range:31 to 98 minutes) and the operation time was 474(138)minutes(range:294 to 680 minutes) with blood loss of 800(640) ml(range:200 to 5 000 ml). There were no significant differences in all of operation data between two groups. In the LHG group,3 patients with GRWR≤0.8% had postoperative small-for-size syndrome which improved after treatment. Postoperative Clavien-Dindo grade≥Ⅲ complications were observed in 6 cases(24.0%),4 cases(4/13) in the LHG group and 2 cases(2/12) in the RHG group,respectively. The difference was not statistically significant. Among them,5 cases improved after re-operation and intervention,1 case in LHG group died of secondary infection 2 weeks after operation,and the mortality was 4.0%. Analysis of serious postoperative complications and death has suggested that conventional caval interposition should not be used for LHG transplantation. Conclusion: Relying on accurate donor-recipient evaluation and the apply of LDLT technique,the morbidity and mortality of in-situ fSLT in adults is acceptable.
Adult
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Aged
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End Stage Liver Disease/surgery*
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Female
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Humans
;
Liver/surgery*
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Liver Transplantation/methods*
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Living Donors
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Male
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Middle Aged
;
Postoperative Complications
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Retrospective Studies
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Severity of Illness Index
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Treatment Outcome
10.Phenotypes and ATP7B gene variants in 316 children with Wilson disease.
Zhi Kun LU ; Jing CHENG ; Si Min LI ; Yun Ting LIN ; Wen ZHANG ; Xiu Zhen LI ; Hui Ying SHENG ; Xiao Jian MAO ; Hui Fen MEI ; Rui Dan ZHENG ; Cui Li LIANG ; Min Yan JIANG ; Yong Lan HUANG ; Li LIU ; Chun Hua ZENG
Chinese Journal of Pediatrics 2022;60(4):317-322
Objectives: To summarize the clinical phenotypes and the variation spectrum of ATP7B gene in Chinese children with Wilson's disease (WD) and to investigate their significance for early diagnosis. Methods: Retrospective analysis was performed on the clinical data of 316 children diagnosed as WD in Guangzhou Women and Children's Medical Center during the period from January 2010 to June 2021. The general situations, clinical manifestations, lab test results, imaging examinations, and ATP7B gene variant characteristics were collected. The patients were divided into asymptomatic WD group and symptomatic WD group based on the presence or absence of clinical symptoms at the time that WD diagnosis was made. The χ2 test, t test or Mann-Whitney U test were used to compare the differences between groups. Results: Among the 316 children with WD, 199 were males and 117 were females, with the age of 5.4 (4.0, 7.6) years at diagnosis; 261 cases (82.6%) were asymptomatic with the age of 4.9 (3.9, 6.4) years; whereas 55 cases (17.4%) were symptomatic with the age of 9.6 (7.3, 12.0) years. The main symptoms invloved liver, kidney, nervous system, or skin damage. Of all the patients, 95.9% (303/316) had abnormal liver function at diagnosis; 98.1% (310/316) had the serum ceruloplasmin lever lower than 200 mg/L; 97.7% (302/309) had 24-hour urine copper content exceeding 40 μg; only 7.4% (23/310) had positive corneal K-F rings, 8.2% (23/281) had abnormal MRI signals in the lenticular nucleus, and all of them had symptoms of damage in liver, kidney or nervous system. Compared with the group of symptomatic WD, asymptomatic group had higher levels of serum alanine aminotransferase and lower levels ceruloplasmin and 24-hour urine copper [(208±137) vs. (72±78) U/L, (55±47) vs. (69±48) mg/L, 103 (72, 153) vs. 492 (230, 1 432) μg; t=9.98, -1.98, Z=-4.89, all P<0.001]. Among the 314 patients completing genetic sequencing, a total of 107 mutations in ATP7B gene were detected, of which 10 are novel variants, and 3 cases (1.0%) had large heterozygous deletion (exons 10 to exon 11) in ATP7B gene. The percentage of missense mutation in asymptomatic WD children was significantly higher than that in symptomatic WD (81.5% (422/518) vs. 69.1% (76/110), χ²=8.47, P<0.05). WD patients carrying homozygous variant of c.2 333G>T had significantly low levels of ceruloplasmin than those not carrying this variant ((23±5) vs. (61±48) mg/L, t=-2.34, P<0.001). Conclusions: The elevation of serum ALT is an important clue for early diagnosis of WD in children, while serum ceruloplasmin and 24-hour urine copper content are specific markers for early diagnosis of WD. In order to confirm the diagnosis of WD, it is necessary to combine the Sanger sequencing with multiplex ligation-dependent probe amplification or other testing technologies.
Ceruloplasmin/metabolism*
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Child
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Child, Preschool
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Copper/metabolism*
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Copper-Transporting ATPases/genetics*
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Female
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Hepatolenticular Degeneration/genetics*
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Humans
;
Male
;
Mutation
;
Phenotype
;
Retrospective Studies


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