1.Different therapeutic methods combined with TACE for primary liver cancer complicated by upper gastrointestinal bleeding:evaluation of clinical efficacy
Liming CAO ; Yongxue ZHANG ; Zhihui LIANG ; Liang LI ; Jinguo CUI ; Weiqiang REN
Journal of Interventional Radiology 2024;33(1):33-37
Objective To compare the clinical efficacy of three different therapies,including transjugular intrahepatic portosystemic shunt(TIPS)treatment,endoscopic treatment and medication treatment,combined with transhepatic arterial chemoembolization(TACE)in treating primary liver cancer complicated by portal hypertension and upper gastrointestinal bleeding.Methods A total of 105 patients with primary liver cancer associated with portal hypertension and upper gastrointestinal bleeding,who were admitted to the No.980 Hospital of PLA Joint Logistics Support Forces of China to receive treatment between January 2014 and June 2020,were enrolled in this study.According to the therapeutic scheme,the patients were divided into TIPS+TACE group(TIPS group,n=25),endoscopy+TACE group(endoscopy group,n=30),and medication+TACE group(medication group,n=50).The clinical efficacy,recurrence rate of bleeding,incidence of hepatic encephalopathy,and survival rate were compared between each other among the three groups.Results The differences in the postoperative 6-month,12-month and 24-month recurrence rates of bleeding between each other among the three groups were statistically significant(all P<0.05).In TIPS group,the portal vein pressure decreased from preoperative(38.47±9.35)mmHg(1 mmHg=0.133 kPa)to postoperative(25.24±5.68)mmHg,the difference was statistically significant(P<0.05).After treatment,the hemoglobin level in the three groups showed varying degrees of elevation,which in the TIPS group and endoscopy group were better than that in the medication group,the differences were statistically significant(P<0.05).In all three groups,the differences in the recurrence rate of bleeding between postoperative 6-month value,12-month value and 24-month value were statistically significant(all P<0.05).The postoperative 6-month,12-month and 24-month recurrence rates of bleeding in the TIPS group were lower than those in the endoscopy group and the medication group,and the differences were statistically significant(P<0.05).The postoperative 12-month and 24-month recurrence rates of bleeding in the TIPS group were lower than those in the endoscopy group,and the differences were statistically significant(P<0.05).The postoperative 12-month and 24-month recurrence rates of bleeding in the endoscopy group were lower than those in the medication group(P<0.05),and the difference in the postoperative 6-month recurrence rate of bleeding between the two groups was not statistically significant(P>0.05).The postoperative 6-month and 12-month incidences of hepatic encephalopathy in the TIPS group were higher than those in the endoscopy group and the medication group,the differences were statistically significant(P<0.05),while the differences in the postoperative 6-month and 12-month incidences of hepatic encephalopathy between the endoscopy group and the medication group were not statistically significant(P>0.05),and the differences in the postoperative 24-month incidence of hepatic encephalopathy between each other among the three groups were not statistically significant(P>0.05).No statistically significant difference in the 6-month mortality existed between TIPS group and endoscopy group(P>0.05),and the 6-month mortality of both TIPS group and endoscopy group was remarkably lower than that of the medication group(P<0.05).The postoperative 12-month mortality and 24-month mortality in TIPS group were lower than those in the endoscopy group and the medication group,and the differences were statistically significant(P<0.05),but the differences in the postoperative 12-month mortality and 24-month mortality between the endoscopy group and the medication group were not statistically significant(P>0.05).Conclusion For primary liver cancer associated with portal hypertension and upper gastrointestinal bleeding,TIPS combined with TACE can effectively control tumor progression and prolong survival.(J Intervent Radiol,2024,32:33-37)
2.Bushen Huoxue Prescription Regulates PINP and β-CTX in Treatment of Femoral Head Necrosis with Syndrome of Liver and Kidney Deficiency
Zijia LIU ; Ying LI ; Pengtao CUI ; Bowen WANG ; Peigang ZHANG ; Wuyue TONG ; Zhihui ZHANG ; Yuju CAO
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(3):81-89
ObjectiveTo explore the therapeutic mechanism of Bushen Huoxue prescription from the perspective of bone metabolism by observing the clinical efficacy of this prescription in treating femoral head necrosis (ONFH, syndrome of liver and kidney deficiency) and its influences on bone metabolism indexes: N-terminal propeptide (PINP) and β-collagen degradation product (β-CTX). MethodSixty-six ONFH patients with the syndrome of liver and kidney deficiency in Zhengzhou Traditional Chinese Medicine Hospital of Orthopedics from December 2021 to September 2022 were selected. The patients were randomized into an experimental group and a control group by the parallel control method, with 33 patients in each group. The experimental group received Bushen Huoxue prescription orally, while the control group received Xianlinggubao Capsules orally, with a treatment cycle of 6 months. The visual analogue scale (VAS) score, Harris score, Association Research Circulation Osseous (ARCO) staging, imaging changes, quantitative scores of TCM symptoms, and serum levels of PINP and β-CTX were determined before and after treatment. The occurrence of adverse events and reactions was recorded. ResultThe total response rate in the experimental group was 83.87% (26/31), which was higher than that (68.75%, 22/32) in the control group (Z=-2.096, P<0.05). After treatment, the single and total scores of TCM symptoms, VAS score, and β-CTX level decreased in the two groups (P<0.05). Moreover, the decreases in the scores of hip pain, lower limb mobility, soreness of waist and knees, and lower limb flaccidity, total score of TCM symptoms, VAS score, and β-CTX level in the experimental were larger than those in the control group (P<0.05). After treatment, the imaging results showed no significant improvement in the two groups. The Harris score and PINP level in both groups increased after treatment (P<0.05), and the increases were more obvious in the experimental group than in the control group (P<0.05). No serious adverse event or adverse reaction appeared during the observation period. ConclusionBushen Huoxue prescription can relieve pain and TCM symptoms and improve the hip joint function in treating ONFH patients with the syndrome of liver and kidney deficiency. It can inhibit the development of ONFH, increase PINP, and decrease β-CTX. No obvious side effect appears during the clinical observation period, which shows that Bushen Huoxue prescription has good safety.
3.Clinical application of intravenous dexmedetomidine combined with target-controlled remifentanil in anesthesia of ERCP surgery in older adult patients
Ning CHEN ; Dandan SONG ; Zhihui QIU ; Ming XU ; Bo CUI ; Yugang DIAO
Journal of China Medical University 2024;53(1):39-45
Objective To explore the safety and feasibility of intravenous dexmedetomidine(Dex)combined with targeted infusion of remifentanil in endoscopic retrograde cholangiopancreatography(ERCP)anesthesia in older adult patients.Methods From January to August 2021,98 older adult patients(≥65 years old)undergoing ERCP were randomly divided into TRP and TRD groups.The TRP group was anesthetized with target-controlled infusion of propofol and remifentanil and the TRD group was treated with Dex combined with target-controlled infusion of remifentanil.mean arterial pressure(MAP),heart rate(HR),electrocardiogram(ECG),respiratory rate(RR),pulse oxygen saturation(SpO2),bispectral index(BIS)before anesthesia induction(T0),immediately after induction of anesthesia(T1),endoscopic introduction(T2),duodenal papilla intubation(T3),endoscopy withdrawal(T4)and postoperative awakening(T5)were observed.Arterial blood gas analysis at different time points(T0,every 15 min after anesthesia induction and T5),PaO2,and PaCO2,were recorded at the above mentioned time points;and the remifentanil concentration in target-controlled infusion,operation time,recovery time(from infusion of remifentanil to consciousness recovery),anesthesia recovery time(from consciousness recovery to leaving the operating room),intraoperative body movement,Aldrete scores out of the room,Visual Analogue Scale(VAS)at 60 min after surgery,occurrence of post-operative adverse reactions,as well as the satisfaction of anesthesiologists,endoscopists,and patients were recorded.Results Compared with the TRP group,MAP at T1 and T3,SpO2 and RR at T1,T2,T3,and T4,and BIS at T2,T3,T4,and T5 increased,whereas HR at T1,T2,T3,and T4 decreased;the number of mandibular rests,incidence of hypoxemia,Aldrete score,and satisfaction increased,whereas the VAS score at 60 min after surgery decreased in the TRD group(P<0.05).There were no statistically significant differences in postoperative adverse reactions,PaO2 and PaCO2,target-controlled infusion remifentanil concentration,operation time,recovery time,and anesthesia recovery time between the two groups.Conclusion Compared with the target-controlled infusion of propofol-remifentanil,intravenous infusion of Dex combined with target-controlled infusion of remifentanil can reduce the incidence of hypoxemia in older adult patients during ERCP surgery,and the anesthesia regimen can meet the anesthesia needs of ERCP surgery,which is safe and feasible.
4.Identification of undifferentiated and differentiated gastric cancer under endoscope based on Kyoto classification score
Chao LI ; Lihong CUI ; Xiaohui WANG ; Lan YU ; Wei WANG ; Xinyao LIU ; Xiaowei LI ; Zhihui YAN
China Journal of Endoscopy 2024;30(7):71-76
Objective To explore the value of the Kyoto classification score in differentiating undifferentiated gastric cancer from differentiated gastric cancer,and establish a predictive scoring system for differentiating undifferentiated gastric cancer under endoscope.Methods 183 gastric cancer patients were retrospectively analyzed.According to pathology,95 patients were included in the differentiated group and 88 were included in the undifferentiated group.The age,gender and Kyoto classification score of patients in the two groups were compared,and the factors associated with undifferentiated gastric cancer were screened by binary Logistic regression analysis.The predictive scoring system for undifferentiated gastric cancer was established based on the obtained odds ratio(O(R))values,and the receiver operator characteristic curve(ROC curve)was drawn.Results Compared with differentiated group,the total scores of Kyoto classification,atrophy,intestinal metaplasia and diffuse redness were lower in undifferentiated group(P<0.01).Under the age of 55(P<0.05),female(P<0.05),and C1 atrophy or no atrophy(P<0.01)were independently associated with undifferentiated gastric cancer.The area under the curve(AUC)of predictive scoring system for undifferentiated gastric cancer was 0.881(95%CI:0.828~0.934),and the sensitivity and specificity were 80.70%and 90.50%at the optimal cut-off value.Conclusion There are differences in Kyoto classification scores between undifferentiated and differentiated gastric cancer patients.The predictive scoring system of undifferentiated gastric cancer established by us has certain value in distinguishing undifferentiated gastric cancer under endoscope.
5.Medication law of Traditional Chinese Medicine patent compounds in the treatment of Alzheimer disease based on data mining
Shanshan LI ; Min ZHAO ; Jiangyan SUN ; Jie ZHANG ; Yuanyuan YAN ; Zhihui CUI ; Menglong SHI
International Journal of Traditional Chinese Medicine 2023;45(2):220-226
Objective:To analyze the medication law of Traditional Chinese Medicine (TCM) patent compounds for Alzheimer disease (AD) by using data mining method.Methods:The TCM compounds for the treatment of AD in the patent database were screened, and the frequency, clustering and association analysis were carried out with the help of TCM inheritance calculation platform, SPSS Statistics 21.0 and SPSS Modeler 18.0 software. The medication law was analyzed.Results:A total of 220 patent compounds were included, involving 361 kinds of Chinese materia medica; the top 10 high-frequency drugs were Acori Tatarinowii Rhizoma, Polygalae Radix, Ginseng Radix et Rhizoma, Chuanxiong Rhizoma, Astragali Radix, Lycii Fructus, Poria, Rehmanniae Radix PraeparataAngelicae Sinensis Radix, Salviae Miltiorrhizae Radix et Rhizoma; the most frequently used drugs were drugs for tonifying deficiency and promoting blood circulation to remove blood stasis; most of their properties belonged to warm, mild and cold; the tastes were mainly sweet, bitter and pungent; the meridians belonged to the five internal organs. 16 items of association data (4 combinations of two items and 12 combinations of three items) were obtained by association rule analysis, and the strongest correlation group was " Acori Tatarinowii Rhizoma- Polygalae Radix" and " Acori Tatarinowii Rhizoma- Chuanxiong Rhizoma- Polygalae Radix". Cluster analysis showed four prescription combinations and three pairs of drug compatibility, including the addition and subtraction structure of Kaixin Powder, Zuogui Pill, Bazhen decoction and so on. Conclusion:The core treatment principle of TCM patent compound treatment of AD is regulating and tonifying the five internal organs to treat its root, resolving phlegm and removing blood stasis to treat the symptoms, which accords with the theoretical basis of TCM in the treatment of AD, and can provide reference for clinical practice and new drug research and development.
6.Drug therapy and efficacy of heart failure caused by supraventricular tachycardia in infants
Lang CUI ; Lu GAO ; Zhihui ZHAO ; Yue YUAN
Chinese Pediatric Emergency Medicine 2023;30(1):31-34
Objective:To investigate the effect of drug therapy on heart failure caused by supraventricular tachycardia(SVT) in infants.Methods:Fifty-five infants with heart failure caused by SVT, including 24 boys and 31 girls, were treated at Beijing Children′s Hospital of Capital Medical University from January 2014 to December 2021.The drug treatment effects of heart failure caused by SVT were analyzed.Results:The average age of 55 infants at the first diagnosis was 5.8 months(1-11 months). All of them had heart failure, including three cases of atrial flutter, 23 cases of atrial tachycardia(13 cases of disordered atrial tachycardia and ten cases of monomorphic atrial tachycardia), and 29 cases of paroxysmal supraventricular tachycardia.Ultrasonic cardiogram showed that the left ventricular diameter increased and/or left ventricular systolic function decreased.Anti-heart failure therapy was effective in 55 cases(100.0%). Anti-arrhythmic drug therapy: atrial flutter and atrial tachycardia were mainly treated by controlling ventricular rate, digitalis combined with metoprolol was effective in 21 cases(80.8%, 21/26), digitalis alone was effective in four cases(15.4%, 4/26), and sotalol was effective in one case(3.8%, 1/26); paroxysmal supraventricular tachycardia was mainly treated with sinus rhythm conversion.The success rates of conversion were: ATP 20.7%(6/29), ATP combined with digitalis 26.1%(6/23), propafenone combined with digitalis 42.9%(3/7), amiodarone combined with digitalis 60.0%(3/5), and sotalol 92.9%(12/13). During follow-up period for 1 to 12 months, heart failure symptoms of all 55 cases(100.0%) improved, and ultrasonic cardiogram of 53 cases(96.3%)returned to normal.Conclusion:Anti-heart failure and anti-arrhythmic drugs for infants with heart failure caused by SVT need to be selected individually.Atrial tachycardia, especially disordered atrial tachycardia, is sensitive to digitalis.Sotalol can be used to treat refractory SVT.
7.Prevalence of hearing loss among community-dwelling older people in China in 2020
Shige QI ; Yuzhang HUANG ; Menghui DING ; Han ZHANG ; Lu CUI ; Zhihui WANG
Chinese Journal of Geriatrics 2023;42(4):446-452
Objective:To investigate the prevalence of hearing loss among community-dwelling older people aged 60 and over, and also to compare the discrepancies between self-reported hearing loss and hearing loss diagnosed via audiometry.Methods:Subjects were from the Prevention and Intervention on Neurodegenerative Disease for the Elderly in China(PINDEC)project.By using the stratified multi-stage cluster random sampling method, a total of 10 347 residents aged 60 years and over were selected from 12 counties and districts in Liaoning, Henan and Guangdong Provinces and hearing function assessment was performed in 2020 through otoscopy, pure-tone audiometry and questionnaires.Hearing loss(HL)was defined by the World Health Organization criteria.Self-reported hearing loss was assessed by asking participants whether they had difficulty in hearing.The χ2 and Cochran-Armitage trend tests were used to analyze the differences in HL between different groups.The multivariate Logistic regression model was applied to assess factors influencing HL. Results:In 2020, the prevalence of HL among the elderly aged 60 and older in Liaoning, Henan and Guangdong Provinces was 69.8%(95% CI: 68.9%-70.7%). The prevalence of HL in men was higher than that in women, and increased gradually with age.The prevalence of mild HL was 47.2%, and the prevalence of moderate, severe and profound HL were 18.0%, 3.6% and 0.9%, respectively.Multivariate Logistic regression analysis showed that factors positively correlated with HL were aging, male sex, living in rural areas and working in manual labor.Education level was negatively correlated with HL.Of the 7223 participants who were found to have HL, 5106(70.7%)self-reported having good hearing.Those of a younger age, with a higher educational achievement, having a spouse, or with mild HL were more likely to report having good hearing(all P<0.05). Conclusions:Hearing loss is quite prevalent among community-dwelling older people, and there is a large discrepancy in prevalence between self-reported HL and HL diagnosed via audiometry.Screening and comprehensive intervention for hearing loss for the elderly should be strengthened.
8.Multidisciplinary team strategy for treatment of diabetic foot
Bichen REN ; Yuan FANG ; Xiaomu LI ; Xiaoguang ZHANG ; Shuai JU ; Yunmin CAI ; Xiaohong SHI ; Yong ZHANG ; Jie CUI ; Jing DING ; Yingmei ZHANG ; Yiqun ZHANG ; Zhiqiang LU ; Zhihui DONG ; Weiguo FU
Chinese Journal of General Surgery 2023;38(4):287-291
Objective:To explore the team construction and treatment strategy of the Diabetic Foot-Multidisciplinary Team.Methods:The clinical data of 19 patients with severe ischemic diabetic foot treated by our Diabetic Foot-Multidisciplinary Team Center from Apr 2021 to Mar 2022 were collected, and the overall amputation rate, above-ankle major amputation rate, minor amputation rate and mortality, Diabetic Foot-Multidisciplinary Team consultation discipline participation rate and treatment participation degree were retrospectively analyzed.Results:Nineteen patients (15 males and 4 females) were enrolled, aged 26 to 94 (68.6±14.2). All were with severe ischemic diabetic foot ulcer:Rutherford grade 5 or up and dysfunction in 2 or more organs. Complications included arteriosclerosis obliterans of the lower extremities in 18 cases, heart diseases in 18, hypertension in 15, and renal insufficiencies in 10. The overall amputation rate was 36.8%, major amputation rate in 21.1%, minor amputation rate in 15.8%, and mortality rate was 15.8%. A total of 16 disciplines participated in Diabetic Foot-Multidisciplinary Team; the main participating disciplines were vascular surgery (19 times), endocrinology (12 times), and cardiology (11 times). The main treatment disciplines were vascular surgery (14 times), plastic surgery (3 times), and cardiology (2 times).Conclusion:For the diagnosis and treatment of diabetic foot, it is necessary to set up a multidisciplinary team as early as possible to control the causes of diabetic foot ulcer, prevent the recurrence of diabetic foot ulcer, reduce the mortality and amputation rate, and improve the quality of life of patients.
9.Therapeutic effect of anti-IL-12/IL-23 p40 on experimental autoimmune uveitis and its mechanism
Xuexue CUI ; Zhihui ZHANG ; Lingzi WU ; Yongtao LI ; Shuang CHEN ; Nu CHEN ; Xiaomin ZHANG
Chinese Journal of Experimental Ophthalmology 2022;40(8):707-715
Objective:To explore the therapeutic effect of anti-interleukin (IL)-12/IL-23 p40 antibody on experimental autoimmune uveitis (EAU) and its mechanism.Methods:Sixty-six SPF female C57BL/6N mice aged 6-8 weeks were selected.EAU model was established in 24 mice through immunization with the interphotoreceptor retinoid-binding protein (IRBP) 651-670.The 24 mice were sacrificed before immunization, and on the 3rd, 12th, and 18th day after immunization, with 6 at each time point.Flow cytometry was used to detect the proportion of IL-17A + interferon-γ (IFN-γ) + CD4 + T cells in the spleen, lymph nodes and eyeballs.Another 6 mice were selected to establish EAU model, and fundus images of the mice were taken with a small animal imaging instrument and optical coherence tomography (OCT) 18 days after immunization.The 6 mice were sacrificed after OCT examination and the eyeballs were collected.Hematoxylin-eosin staining was used to observe the retinal inflammation and morphological changes in tissue structure.Flow cytometry was employed to detect the proportion of IL-17A + IFN-γ + CD4 + T cells in lymph nodes.The 6 mice were divided into IL-17A + IFN-γ + highly expressed group and IL-17A + IFN-γ + lowly expressed group according to flow cytometry results, and the retinal injury was compared between the two groups.EAU model was established in another 36 mice, which were divided into anti-IL-12/IL-23 p40 group and IgG group by random number table method, with 18 mice in each group.Anti-IL-12/IL-23 p40 or IgG was injected by tail vein at a 3-day inteval according to grouping.On the 12th and 18th day after immunization, 6 mice were selected from each group to collect lymph nodes and eyeballs, and the proportion of T cell subsets was detected by flow cytometry.Eyeballs of 6 mice in each group were extracted on the 24th day after immunization and retinal damage was observed by hematoxylin-eosin staining.The induced differentiation of CD4 + T cells in vitro was assayed by flow cytometry.The expressions of IL-17 and IFN-γ were detected by enzyme-linked immunosorbent assay (ELISA) after induced differentiation of IL-17A + IFN-γ + CD4 + T cells.The relative expression levels of Th1 transcription factor T-bet and Th17 transcription factor retinoid acid-related orphan nuclear receptor γt (ROR-γt) after induced differentiation of IL-17A + IFN-γ + CD4 + T cells were detected by real-time quantitative PCR.The use and care of animals followed the ARVO statement and this study protocol was approved by an Ethics Committee of Experimental Animals of Tianjin Medical University Eye Hospital (No.TJYY2019111019). Results:There were significant differences in the proportion of IL-17A + IFN-γ + CD4 + T cells in lymph nodes, spleen and eyeballs between wild-type mice and EAU mice at the 3rd, 12th and 18th day after immunization ( H=9.642, 16.531, 10.385; all at P<0.05). Compared with before immunization, the proportion of IL-17A + IFN-γ + CD4 + T cells was significantly increased in lymph nodes of EAU mice on the 12th day following immunization and was significantly increased in spleen and lymph nodes on day 18 after immunization (all at P<0.05). Severe retinal exudation, retinal detachment, severe inflammatory cell infiltration and extensive retinal folds were detected in IL-17A + IFN-γ + highly expressed mice.Mild retinal edema, focal inflammatory cell infiltration and mild retinal folds were found in IL-17A + IFN-γ + lowly expressed mice.The proportion of CD3 and IL-17A + IFN-γ + CD4 + T cells in the eyeballs of anti-IL-12/IL-23 p40 group was lower than that in IgG group at the 18th day after immunization, and the differences were statistically significant ( t=15.304, 8.080; both at P<0.05). On day 12 after immunization, the percentage of IL-17A + IFN-γ + CD4 + T cells in anti-IL-12/IL-23 p40 group was (0.33±0.18)%, which was significantly lower than (4.83±0.45)% in IgG group ( t=15.974, P<0.001). Compared with IgG group, the percentage of Th1, Th17, IL-17A + IFN-γ + CD4 + T cells and the expression levels of IL-17, IFN-γ, T-bet, ROR-γt in anti-IL-12/IL-23 p40 group were significantly decreased, with statistical significances (all at P<0.05). Conclusions:Anti-IL-12/IL-23 p40 has a therapeutic effect on EAU by inhibiting IL-17A + IFN-γ + CD4 + T cells.
10.Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia in children with CASQ2 variants
Qirui LI ; Yue YUAN ; Lu GAO ; Lang CUI ; Xia YU ; Zhihui ZHAO ; Xiwei XU
Chinese Journal of Applied Clinical Pediatrics 2021;36(13):999-1003
Objective:To summarize the clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia (CPVT) in children caused by CASQ2 gene variants. Methods:The clinical data of 8 children (4 males and females, respectively) with CPVT caused by CASQ2 gene variants admitted to Beijing Children′s Hospital, Capital Medical University from January 2017 to November 2018 were retrospectively analyzed.The targeted next generation sequencing was employed to identify CASQ2 variants and Sanger sequencing was conducted to conform the candidate variants and determine the parental origin. Results:As for 8 children in this study, the average age of onset was 6.4 years, the mean age at diagnosis was 9.4 years, and the average interval from onset to diagnosis was 3 years.Only 2 cases had clearly diagnosis at onset, other 6 cases had a delay to diagnosis and 3 cases of them were diagnosed at other hospitals as having epilepsy and did not respond to anti-epileptic therapy.During physical activity and/or emotional stress, 8 cases presented with recurrent syncope and were able to regain consciousness after a few minutes.They had no a history of sudden cardiac death or family history.There was no abnormality on resting electrocardiogram during the paroxysmal interval in 6 cases and mild sinus bradycardia in 2 cases.Typical bidirectional ventricular tachycardia (VT) and/or polymorphic VT were detected in 8/8 cases and 5/5 cases, respectively, based on Holter electrocardiography and cardiac stress test.The CASQ2 gene variant was found in all children, with 6 cases carrying compound heterozygous variants and 2 cases carrying homozygous variants.A total of 9 different CASQ2 variants were detected in 8 cases, of which 5 had not been previously reported.According to the family-line verification, all of them had a familial variant, with no novel variants.All 8 cases were treated orally with β-blockers, with asymptomatically recurrent episodes, with a mean follow-up of 1.5 years, during which implantable cardioverter defibrillation was performed in 1 case owing to severe sinus bradycardia.There was no death case among them. Conclusions:CPVT with CASQ2 variants is characterized by early onset before preschool age, recurrent syncope after exercise or emotional stress and bidirectional/polymorphic VT.Early diagnosis of CPVT remains challenging due to delayed diagnosis or misdiagnosis.Treatment with β-blockers can achieve favorable effectiveness and safety.Five novel variants in this study would further expand the database of CASQ2 genes.

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