1.Value of 18F-FDG PET/CT in predicting sentinel lymph node metastasis in breast cancer
Dan-dan CHEN ; Yun-long LOU ; Zheng LIN
Chinese Journal of Current Advances in General Surgery 2025;28(9):697-701
Objective:A model for predicting sentinel lymph node metastasis was established based on positron emission tomography(PET)-related metabolic parameters and clinicopathological characteristics.Methods:A retro-spective analysis was conducted on 211 patients diagnosed with breast cancer through surgical pathology from January 2016 to March 2023 in Meizhou People's Hospital,who underwent whole-body PET/CT examinations prior to surgery.Clinical,pathological,and PET-related metabolic parameters were collected.The study analyzed the association be-tween clinicopathological characteristics of the primary breast cancer lesion,PET metabolic parameters,and sentinel lymph node metastasis.A logistic regression predictive model was constructed using Broussonetia papyrifera.Results:Breast cancer primary lesion PET-suspicious axillary lymph nodes,vascular tumor thrombus,estrogen receptor(ER),and progesterone receptor(PR)showed statistically significant differences between the two groups(all P<0.05),while maxi-mum tumor diameter,SUVmax tumor location,maximum standardized uptake value(SUVmax),metabolic tumor volume(MTV),total lesion glycolysis(TLG),tumor location,number of lesions,pathological type,histological grade,neural inva-sion,Homo sapiens epidermal growth factor receptor 2(HER-2),and nuclear-associated antigen Ki-67(Ki-67)showed no statistically significant differences between the two groups(all P>0.05).Parameters with P<0.05 in the univariate analysis were subjected to multivariate logistic regression analysis,and the logistic regression model was established as Logit(P)=-0.437×vascular tumor thrombus+4.685×suspicious axillary lymph node metastasis.The predictive model AUC was 0.738(P<0.001,95%CI:0.664~0.812),with sensitivity and specificity of 63.4%and 74.4%,respectively.Con-clusion:PET findings of the primary breast cancer lesion regarding suspicious axillary lymph node metastasis,vascular tumor thrombus,ER and PR are associated with sentinel lymph node metastasis.The predictive model established based on PET-detected suspicious axillary lymph node metastasis and vascular tumor thrombus in primary breast cancer lesions has certain value in predicting sentinel lymph node metastasis,potentially providing a non-invasive examination modality for clinical practice.
2.Terms Related to The Study of Biomacromolecular Condensates
Ke RUAN ; Xiao-Feng FANG ; Dan LI ; Pi-Long LI ; Yi LIN ; Zheng WANG ; Yun-Yu SHI ; Ming-Jie ZHANG ; Hong ZHANG ; Cong LIU
Progress in Biochemistry and Biophysics 2025;52(4):1027-1035
Biomolecular condensates are formed through phase separation of biomacromolecules such as proteins and RNAs. These condensates exhibit liquid-like properties that can futher transition into more stable material states. They form complex internal structures via multivalent weak interactions, enabling precise spatiotemporal regulations. However, the use of inconsistent and non-standardized terminology has become increasingly problematic, hindering academic exchange and the dissemination of scientific knowledge. Therefore, it is necessary to discuss the terminology related to biomolecular condensates in order to clarify concepts, promote interdisciplinary cooperation, enhance research efficiency, and support the healthy development of this field.
3.Value of 18F-FDG PET/CT in predicting sentinel lymph node metastasis in breast cancer
Dan-dan CHEN ; Yun-long LOU ; Zheng LIN
Chinese Journal of Current Advances in General Surgery 2025;28(9):697-701
Objective:A model for predicting sentinel lymph node metastasis was established based on positron emission tomography(PET)-related metabolic parameters and clinicopathological characteristics.Methods:A retro-spective analysis was conducted on 211 patients diagnosed with breast cancer through surgical pathology from January 2016 to March 2023 in Meizhou People's Hospital,who underwent whole-body PET/CT examinations prior to surgery.Clinical,pathological,and PET-related metabolic parameters were collected.The study analyzed the association be-tween clinicopathological characteristics of the primary breast cancer lesion,PET metabolic parameters,and sentinel lymph node metastasis.A logistic regression predictive model was constructed using Broussonetia papyrifera.Results:Breast cancer primary lesion PET-suspicious axillary lymph nodes,vascular tumor thrombus,estrogen receptor(ER),and progesterone receptor(PR)showed statistically significant differences between the two groups(all P<0.05),while maxi-mum tumor diameter,SUVmax tumor location,maximum standardized uptake value(SUVmax),metabolic tumor volume(MTV),total lesion glycolysis(TLG),tumor location,number of lesions,pathological type,histological grade,neural inva-sion,Homo sapiens epidermal growth factor receptor 2(HER-2),and nuclear-associated antigen Ki-67(Ki-67)showed no statistically significant differences between the two groups(all P>0.05).Parameters with P<0.05 in the univariate analysis were subjected to multivariate logistic regression analysis,and the logistic regression model was established as Logit(P)=-0.437×vascular tumor thrombus+4.685×suspicious axillary lymph node metastasis.The predictive model AUC was 0.738(P<0.001,95%CI:0.664~0.812),with sensitivity and specificity of 63.4%and 74.4%,respectively.Con-clusion:PET findings of the primary breast cancer lesion regarding suspicious axillary lymph node metastasis,vascular tumor thrombus,ER and PR are associated with sentinel lymph node metastasis.The predictive model established based on PET-detected suspicious axillary lymph node metastasis and vascular tumor thrombus in primary breast cancer lesions has certain value in predicting sentinel lymph node metastasis,potentially providing a non-invasive examination modality for clinical practice.
4.Clinical characteristics of children on prolonged mechanical ventilation due to different primary diseases
Jun-Zhen ZHU ; Zheng LI ; Li-Dan CUI ; Shi-Yue MEI ; Xiao-Lei LI ; Bing FANG ; Su-Yun QIAN ; Yi-Bing CHENG
Chinese Journal of Contemporary Pediatrics 2024;26(5):481-485
Objective To investigate the differences in clinical characteristics among children on prolonged mechanical ventilation(PMV)due to different primary diseases.Methods A retrospective analysis was performed on the clinical data of 59 pediatric patients requiring PMV from July 2017 to September 2022.According to the primary disease,they were divided into respiratory disease(RD)group,central nervous system(CNS)group,neuromuscular disease(NMD)group,and other disease group.The four groups were compared in terms of general information,treatment,and outcome.Results There were significant differences among the four groups in age,body weight,Pediatric Logistic Organ Dysfunction-2(PELOD-2)score,Pediatric Risk of Mortality Ⅲ(PRISM Ⅲ)score,analgesic and sedative treatment,nutrition supply,rehabilitation treatment,tracheotomy,successful ventilator weaning,and outcomes(P<0.05).Compared with the RD group,the CNS group and the other disease group had a significantly higher age and a significantly higher proportion of children receiving rehabilitation treatment,and the CNS group had a significantly higher proportion of children receiving tracheotomy(P<0.008).Compared with the other disease group,the CNS group and the NMD group had significantly lower PELOD-2 and PRISM Ⅲ scores,and the CNS group had a significantly higher proportion of children with successful ventilator weaning and a significantly higher proportion of children who were improved and discharged(P<0.008).Conclusions There are differences in clinical characteristics among children receiving PMV due to different etiologies.Most children in the RD group have a younger age,and children in the CNS group have a relatively good prognosis.
5.Effects of Shugan Lipi decoction on intestinal flora in non-alcoholic steatohepatitis rats
Yuan-Yuan SHI ; Ya WANG ; Dan GUO ; Hang-Yu ZHONG ; Yun-Jie ZHENG ; Tao ZHANG
The Chinese Journal of Clinical Pharmacology 2024;40(17):2533-2537
Objective To explore the effect of Shugan Lipi decoction on inflammation and intestinal flora,Toll like receptor 4(TLR4),T cell immunoglobulin domain and mucin domain-3(Tim-3)in non-alcoholic steatohepatitis(NASH)rats.Methods The NASH model was established by feeding methionine and choline deficient diet for 4 weeks.SD rats were randomly divided into blank group(intragastric administration with 0.9%NaCl),model group(NASH model,intragastric administration with 0.9%NaCl),and experimental group(NASH model,intragastric administration with 6.18g·kg-1 Shugan Lipi decoction).Illumina sequencing by synthesis method was used to detect the 16S rRNA sequence of rat Intestinal microbiota.Western blot method was used to detect the expression levels of Tim-3 and TLR4 proteins.Enzyme-linked immunosorbent assay was used to detect tumor necrosis factor-α(TNF-α),interleukin(IL)-6 and IL-10 levels in each group of rats.Results After 4 weeks of medication,the relative abundance of Bacteroidetes in the blank,model and experimental groups were(47.96±10.52)%,(42.90±15.01)%and(57.15±10.99)%;the relative abundance of Firmicutes were(49.27±9.99)%,(53.06±11.47)%and(39.99±11.88)%;the relative expression levels of Tim-3 protein were 1.03±0.07,0.24±0.06 and 1.57±0.11;the relative expression levels of TLR4 protein were 1.04±0.11,3.23±0.33 and 0.94±0.27;the levels of TNF-α were(403.03±25.25),(576.87±60.29)and(385.16±37.67)pg·mL-1;the levels of IL-6 were(125.35±14.07),(189.75±34.30)and(113.71±18.35)pg·mL-1;the levels of IL-10 were(123.20±15.96),(66.71±11.94)and(119.54±10.57)pg·mL-1,respectively.The above indexes in the experimental group showed statistically significant differences compared with the model group(P<0.01,P<0.05).Conclusion Shugan Lipi decoction may regulate inflammatory cytokines by affecting intestinal flora and TLR4,Tim-3 protein expression,affect liver inflammatory response,and improve NASH.
6.Evaluation of metoprolol standard dosing pathway in Chinese patients with acute coronary syndrome: a prospective multicenter single-arm interventional study.
Xiao-Yun YIN ; Yun-Mei ZHANG ; Ai-Dong SHEN ; Jing-Ping WANG ; Zhe-Xun LIAN ; Yi-Bing SHAO ; Wen-Qi ZHANG ; Shu-Ying ZHANG ; Yang ZHENG ; Kang CHENG ; Biao XU ; Cheng-Xing SHEN ; Rong-Chong HUANG ; Jin-Cheng GUO ; Guo-Sheng FU ; Dong-Kai SHAN ; Dan-Dan LI ; Yun-Dai CHEN
Journal of Geriatric Cardiology 2023;20(4):256-267
OBJECTIVE:
To evaluate the feasibility and tolerability of metoprolol standard dosing pathway (MSDP) in Chinese patients with acute coronary syndrome (ACS).
METHODS:
In this multicenter, prospective, open label, single-arm and interventional study that was conducted from February 2018 to April 2019 in fifteen Chinese hospitals. A total of 998 hospitalized patients aged ≥ 18 years and diagnosed with ACS were included. The MSDP was applied to all eligible ACS patients based on the standard treatment recommended by international guidelines. The primary endpoint was the percentage of patients achieving the target dose at discharge (V2). The secondary endpoints included the heart rate and blood pressure at V2 and four weeks after discharge (V4), and percentage of patients experiencing bradycardia (heart rate < 50 beats/min), hypotension (blood pressure < 90/60 mmHg) and transient cardiac dysfunction at V2 and V4.
RESULTS:
Of the 998 patients, 29.46% of patients achieved the target dose (≥ 95 mg/d) at V2. The total population was divided into two groups: target group (patients achieving the target dose at V2) and non-target group (patients not achieving the target dose at V2). There was significant difference in the reduction of heart rate from baseline to discharge in the two groups (-4.97 ± 11.90 beats/min vs. -2.70 ± 9.47 beats/min, P = 0.034). There was no significant difference in the proportion of bradycardia that occurred in the two groups at V2 (0 vs. 0, P = 1.000) and V4 (0.81% vs. 0.33%, P = 0.715). There was no significant difference in the proportion of hypotension between the two groups at V2 (0.004% vs. 0.004%, P = 1.000) and V4 (0 vs. 0.005%, P = 0.560). No transient cardiac dysfunction occurred in two groups during the study. A total of five adverse events (1.70%) and one serious adverse event (0.34%) were related to the pathway in target group.
CONCLUSIONS
In Chinese ACS patients, the feasibility and tolerability of the MSDP have been proved to be acceptable.
7.To compare the efficacy and incidence of severe hematological adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia.
Xiao Shuai ZHANG ; Bing Cheng LIU ; Xin DU ; Yan Li ZHANG ; Na XU ; Xiao Li LIU ; Wei Ming LI ; Hai LIN ; Rong LIANG ; Chun Yan CHEN ; Jian HUANG ; Yun Fan YANG ; Huan Ling ZHU ; Ling PAN ; Xiao Dong WANG ; Gui Hui LI ; Zhuo Gang LIU ; Yan Qing ZHANG ; Zhen Fang LIU ; Jian Da HU ; Chun Shui LIU ; Fei LI ; Wei YANG ; Li MENG ; Yan Qiu HAN ; Li E LIN ; Zhen Yu ZHAO ; Chuan Qing TU ; Cai Feng ZHENG ; Yan Liang BAI ; Ze Ping ZHOU ; Su Ning CHEN ; Hui Ying QIU ; Li Jie YANG ; Xiu Li SUN ; Hui SUN ; Li ZHOU ; Ze Lin LIU ; Dan Yu WANG ; Jian Xin GUO ; Li Ping PANG ; Qing Shu ZENG ; Xiao Hui SUO ; Wei Hua ZHANG ; Yuan Jun ZHENG ; Qian JIANG
Chinese Journal of Hematology 2023;44(9):728-736
Objective: To analyze and compare therapy responses, outcomes, and incidence of severe hematologic adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia (CML) . Methods: Data of patients with chronic phase CML diagnosed between January 2006 and November 2022 from 76 centers, aged ≥18 years, and received initial flumatinib or imatinib therapy within 6 months after diagnosis in China were retrospectively interrogated. Propensity score matching (PSM) analysis was performed to reduce the bias of the initial TKI selection, and the therapy responses and outcomes of patients receiving initial flumatinib or imatinib therapy were compared. Results: A total of 4 833 adult patients with CML receiving initial imatinib (n=4 380) or flumatinib (n=453) therapy were included in the study. In the imatinib cohort, the median follow-up time was 54 [interquartile range (IQR), 31-85] months, and the 7-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.2%, 88.4%, 78.3%, and 63.0%, respectively. The 7-year FFS, PFS, and OS rates were 71.8%, 93.0%, and 96.9%, respectively. With the median follow-up of 18 (IQR, 13-25) months in the flumatinib cohort, the 2-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.4%, 86.5%, 58.4%, and 46.6%, respectively. The 2-year FFS, PFS, and OS rates were 80.1%, 95.0%, and 99.5%, respectively. The PSM analysis indicated that patients receiving initial flumatinib therapy had significantly higher cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) and higher probabilities of FFS than those receiving the initial imatinib therapy (all P<0.001), whereas the PFS (P=0.230) and OS (P=0.268) were comparable between the two cohorts. The incidence of severe hematologic adverse events (grade≥Ⅲ) was comparable in the two cohorts. Conclusion: Patients receiving initial flumatinib therapy had higher cumulative incidences of therapy responses and higher probability of FFS than those receiving initial imatinib therapy, whereas the incidence of severe hematologic adverse events was comparable between the two cohorts.
Adult
;
Humans
;
Adolescent
;
Imatinib Mesylate/adverse effects*
;
Incidence
;
Antineoplastic Agents/adverse effects*
;
Retrospective Studies
;
Pyrimidines/adverse effects*
;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy*
;
Treatment Outcome
;
Benzamides/adverse effects*
;
Leukemia, Myeloid, Chronic-Phase/drug therapy*
;
Aminopyridines/therapeutic use*
;
Protein Kinase Inhibitors/therapeutic use*
8.Effect of Deep Learning-based Contrast-enhanced CT Image Reconstruction on the Image Quality of the Biliary System.
Shi-Tian WANG ; Jia XU ; Xuan WANG ; Yun WANG ; Hua-Dan XUE ; Zheng-Yu JIN
Acta Academiae Medicinae Sinicae 2022;44(4):614-620
Objective To evaluate the effect of a deep learning reconstruction (DLR) method on the visibility of contrast-enhanced CT images of the biliary system by comparing it with different iterative reconstruction algorithms including the adaptive iterative dose reduction 3D (AIDR 3D) algorithm,forward projected model based iterative reconstruction solution (FIRST),and filtered back projection (FBP) algorithm. Methods A total of 30 patients subjected to abdominal contrast-enhanced CT and diagnosed with dilatation of common bile duct or extrahepatic bile duct were retrospectively included in this study.The images of the portal phase were reconstructed via four different algorithms (FBP,AIDR 3D,FIRST,and DLR).Signal to noise ratio (SNR) and contrast to noise ratio (CNR) of the dilated bile duct,liver parenchyma,measurable bile duct lesions,and image noise were compared between the four datasets.In subjective analyses,two radiologists independently scored the image quality (best:4 points,second:3 points;third:2 points;fourth:1 point) of the four datasets based on the noise and image visual quality of the biliary system.The Friedman and the Bonferroni-Dunn post-hoc tests were performed for comparison. Results The DLR images (bile duct:4.42±0.87;liver parenchyma:3.78±1.47) yielded higher CNR than the FBP (bile duct:2.21±1.02,P<0.001;liver parenchyma:1.43±1.29,P<0.001),AIDR 3D (bile duct:2.81±0.91,P=0.024;liver parenchyma:2.39±1.94,P=0.278),and FIRST (bile duct:2.51±1.24,P<0.001;liver parenchyma:2.45±1.81,P=0.003) images.Furthermore,the DLR images had higher SNR (bile duct:1.39±0.85,liver parenchyma:9.75±1.90) than the FBP (bile duct:0.86±0.63,P<0.001;liver parenchyma:3.31±1.12,P<0.001) and FIRST (bile duct:1.01±0.61,P=0.013;liver parenchyma:5.73±1.37,P<0.001) images,and showed lower noise (10.51±3.53) than the FBP(4.10±3.92,P<0.001),AIDR 3D (15.72±2.41,P=0.032),and FIRST (17.20±3.82,P<0.001) images.SNR and CNR showed no significant differences between FIRST and AIDR 3D images (all P>0.05).DLR images [4(4,4)] obtained higher score than FPB [1(1,1),P<0.001],AIDR3D[3 (2,3),P=0.029],and FIRST[2 (2,3),P<0.001] images. Conclusion DLR algorithm improved the subjective and objective quality of the contrast-enhanced CT image of the biliary system.
Biliary Tract
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Deep Learning
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Humans
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Imaging, Three-Dimensional
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Radiographic Image Interpretation, Computer-Assisted/methods*
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Retrospective Studies
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Tomography, X-Ray Computed/methods*
9.Effect and influence factors of cardiopulmonary resuscitation in children with congenital heart disease in pediatric intensive care unit.
Gang LIU ; Jian Ping CHU ; Jian Li CHEN ; Su Yun QIAN ; Dan Qun JIN ; Xiu Lan LU ; Mei Xian XU ; Yi Bing CHENG ; Zheng Yun SUN ; Hong Jun MIAO ; Jun LI ; Sheng Ying DONG ; Xin DING ; Ying WANG ; Qing CHEN ; Yuan Yuan DUAN ; Jiao Tian HUANG ; Yan Mei GUO ; Xiao Na SHI ; Jun SU ; Yi YIN ; Xiao Wei XIN ; Shao Dong ZHAO ; Zi Xuan LOU ; Jing Hui JIANG ; Jian Sheng ZENG
Chinese Journal of Pediatrics 2022;60(3):197-202
Objective: To investigate the prognostic factors of children with congenital heart disease (CHD) who had undergone cardiopulmonary resuscitation (CPR) in pediatric intensive care unit (PICU) in China. Methods: From November 2017 to October 2018, this retrospective multi-center study was conducted in 11 hospitals in China. It contained data from 281 cases who had undergone CPR and all of the subjects were divided into CHD group and non-CHD group. The general condition, duration of CPR, epinephrine doses during resuscitation, recovery of spontaneous circulation (ROSC), discharge survival rate and pediatric cerebral performance category in viable children at discharge were compared. According to whether malignant arrhythmia is the direct cause of cardiopulmonary arrest or not, children in CHD and non-CHD groups were divided into 2 subgroups: arrhythmia and non-arrhythmia, and the ROSC and survival rate to discharge were compared. Data in both groups were analyzed by t-test, chi-square analysis or ANOVA, and logistic regression were used to analyze the prognostic factors for ROSC and survival to discharge after cardiac arrest (CA). Results: The incidence of CA in PICU was 3.2% (372/11 588), and the implementation rate of CPR was 75.5% (281/372). There were 144 males and 137 females with median age of 32.8 (5.6, 42.7) months in all 281 CPA cases who received CPR. CHD group had 56 cases while non-CHD had 225 cases, with the percentage of 19.9% (56/281) and 80.1% (225/281) respectively. The proportion of female in CHD group was 60.7% (34/56) which was higher than that in non-CHD group (45.8%, 103/225) (χ2=4.00, P=0.045). There were no differences in ROSC and rate of survival to discharge between the two groups (P>0.05). The ROSC rate of children with arthythmid in CHD group was 70.0% (28/40), higher than 6/16 for non-arrhythmic children (χ2=5.06, P=0.024). At discharge, the pediatric cerebral performance category scores (1-3 scores) of CHD and non-CHD child were 50.9% (26/51) and 44.9% (92/205) respectively. Logistic regression analysis indicated that the independent prognostic factors of ROSC and survival to discharge in children with CHD were CPR duration (odds ratio (OR)=0.95, 0.97; 95%CI: 0.92~0.97, 0.95~0.99; both P<0.05) and epinephrine dosage (OR=0.87 and 0.79, 95%CI: 0.76-1.00 and 0.69-0.89, respectively; both P<0.05). Conclusions: There is no difference between CHD and non-CHD children in ROSC and survival rate of survival to discharge was low. The epinephrine dosage and the duration of CPR are related to the ROSC and survival to discharge of children with CHD.
Cardiopulmonary Resuscitation
;
Child
;
Child, Preschool
;
Female
;
Heart Arrest/therapy*
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Heart Defects, Congenital/therapy*
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Humans
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Intensive Care Units, Pediatric
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Male
;
Retrospective Studies
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
;
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
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Male
;
Mutation
;
Phenotype
;
Retrospective Studies

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