1.Treatment Principles and Paradigm of Diabetic Microvascular Complications Responding Specifically to Traditional Chinese Medicine
Anzhu WANG ; Xing HANG ; Lili ZHANG ; Xiaorong ZHU ; Dantao PENG ; Ying FAN ; Min ZHANG ; Wenliang LYU ; Guoliang ZHANG ; Xiai WU ; Jia MI ; Jiaxing TIAN ; Wei ZHANG ; Han WANG ; Yuan XU ; .LI PINGPING ; Zhenyu WANG ; Ying ZHANG ; Dongmei SUN ; Yi HE ; Mei MO ; Xiaoxiao ZHANG ; Linhua ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(5):272-279
To explore the advantages of traditional Chinese medicine (TCM) and integrative TCM-Western medicine approaches in the treatment of diabetic microvascular complications (DMC), refine key pathophysiological insights and treatment principles, and promote academic innovation and strategic research planning in the prevention and treatment of DMC. The 38th session of the Expert Salon on Diseases Responding Specifically to Traditional Chinese Medicine, hosted by the China Association of Chinese Medicine, was held in Beijing, 2024. Experts in TCM, Western medicine, and interdisciplinary fields convened to conduct a systematic discussion on the pathogenesis, diagnostic and treatment challenges, and mechanism research related to DMC, ultimately forming a consensus on key directions. Four major research recommendations were proposed. The first is addressing clinical bottlenecks in the prevention and control of DMC by optimizing TCM-based evidence evaluation systems. The second is refining TCM core pathogenesis across DMC stages and establishing corresponding "disease-pattern-time" framework. The third is innovating mechanism research strategies to facilitate a shift from holistic regulation to targeted intervention in TCM. The fourth is advancing interdisciplinary collaboration to enhance the role of TCM in new drug development, research prioritization, and guideline formulation. TCM and integrative approaches offer distinct advantages in managing DMC. With a focus on the diseases responding specifically to TCM, strengthening evidence-based support and mechanism interpretation and promoting the integration of clinical care and research innovation will provide strong momentum for the modernization of TCM and the advancement of national health strategies.
2.Progress of research on drug therapies for SARS-CoV-2 variants infections
Jiayi ZHANG ; Xiaodong HUANG ; Weidong LI ; Xiaowen HAN ; Zhenyu YIN ; Lei GAO ; Ewetse Paul MASWIKITI ; Bin MA ; Ying ZHANG ; Hao CHEN
Chinese Journal of Nosocomiology 2025;35(10):1577-1583
Thousands of variant gene sequences of SARS-CoV-2 have been emerged since the COVID-19 epidemic broke out in Dec.2019.Alpha(B.1.1.7),Beta(B.1.351),Gamma(P.1),Delta(B.1.617.2)and Omicron(B.1.1.529)were the most representative variants.With the continuous emergence of new variants,the predomi-nant strain in the global pandemic as of Jan.2025 is the Omicron BA.2.86-derived mutant,JN.1.The effectiveness of drugs against Omicron variants remains a key research focus in the treatment of SARS-CoV-2 infections.The infectiousness and pathogenicity of the variants altered remarkably due to mutations in the genome on S protein of the mutant strains,and these emerging variants are more likely to evade immunity and were more infectious than the previous prevalent variants.During the process of combating with the constantly emerging novel variants,drugs showed various effects on treatment of diseases caused by different variants.New drugs and treatment coun-termeasures are constantly updated with the prevalence of various variants.The current status of research on pres-ent drugs for treatment of SARS-CoV-2 and the therapeutic effects on emerging variants are reviewed in the article so as to provide reference for prevention and treatment of the upcoming evolved variants.
3.Analysis of influencing factors of early neurological deterioration in patients with acute anterior circulation large-vessel occlusive mild stroke
Hongyang SUN ; Xuhua LI ; Juan ZHOU ; Yunjie LI ; Jincheng WU ; Hongxing HAN ; Xianjun WANG ; Zhenyu ZHAO
Chinese Journal of Cerebrovascular Diseases 2025;22(2):81-88,104
Objective To explore the influencing factors of early neurological deterioration(END)in patients with acute anterior circulation large-vessel occlusive mild stroke who were treated with medications alone within 72 h after onset.Methods Retrospective consecutive data were collected of patients with acute large-vessel occlusive mild stroke who presented to the Advanced Stroke Center of Linyi People's Hospital within 24 h of onset from January 2021 to December 2022.END was defined as an increase of ≥ 4 points in the National Institutes of Health stroke scale(N1HSS)score within 72 h after onset compared to the admission score.Patients were divided into the neurological deterioration group and the stable condition group(NIHSS score did not increase or increased by 1-3 points within 72 h after onset compared to the admission score).Baseline and clinical data of all patients were collected,including sex,age,cerebrovascular disease risk factors(hypertension,diabetes mellitus,hyperlipidemia,coronary heart disease,atrial fibrillation,smoking,alcohol consumption,stroke history),NIHSS score at admission,time from onset to admission,systolic blood pressure at admission,diastolic blood pressure at admission,laboratory test indicators at admission(blood glucose,glycosylated hemoglobin,homocysteine,total cholesterol,triglyceride,low-density lipoprotein cholesterol,high-density lipoprotein cholesterol,neutrophils,lymphocytes and neutrophil-to-lymphocyte ratio),responsible occlusion artery(internal carotid artery,middle cerebral artery,anterior cerebral artery),affected cerebral hemisphere,collateral circulation score,and medications used within 72 h after admission(intravenous thrombolysis+dual antiplatelet therapy,tirofiban+dual antiplatelet therapy,argatroban+dual antiplatelet therapy,argatroban alone,dual antiplatelet therapy alone).Variables with statistically significant differences in univariate analysis were included in multivariate Logistic regression analysis to explore the independent influencing factors for END in patients with acute anterior circulation large-vessel occlusive mild stroke treated with medications alone.Results A total of 208 patients with acute anterior circulation large-vessel occlusive mild stroke were included,with 143 males and 65 females,aged 38-85 years,with an average age of(64±9)years.Among them,86 patients were in the neurological deterioration group and 122 in the stable condition group.(1)There were statistically significant differences between the neurological deterioration group and the stable condition group in terms of history of diabetes mellitus(39.5%[34/86]vs.17.2%[21/122]),smoking history(43.0%[37/86]vs.29.5%[36/122]),left cerebral hemisphere lesion(57.0%[49/86]vs.41.0%[50/122]),collateral circulation score(4[3,5]vs.5[4,5]),time from onset to admission(7.0[3.0,17.0]hvs.4.3[2.0,11.0]h),blood glucose at admission(7.4[5.8,10.0]mmol/L vs.6.7[5.8,7.7]mmol/L),neutrophil-to-lymphocyte ratio(3.8[2.4,5.1]vs.3.0[2.1,4.3]),dual antiplatelet therapy alone(19.8%[17/86]vs.6.6%[8/122]),and argatroban+dual antiplatelet therapy(8.1%[7/86]vs.29.5%[36/122];all P<0.05).There were no statistically significant differences in the results of the remaining univariate analyses(all P>0.05).(2)Multivariate Logistic regression analysis showed that diabetes mellitus(OR,2.674,95%CI 1.121-6.377,P=0.027)and left cerebral hemisphere vessel occlusion(OR,2.030,95%CI I.083-3.806,P=0.027)were independent risk factors for END in acute anterior circulation large-vessel occlusive mild stroke.Argatroban+dual antiplatelet therapy(OR,0.267,95%CI 0.116-0.613,P=0.002)and high collateral circulation score(OR,0.551,95%CI 0.368-0.824,P=0.004)were independent protective factors for END in acute anterior circulation large-vessel occlusive mild stroke.Conclusions Acute anterior circulation large-vessel occlusive mild stroke patients with diabetes mellitus or left cerebral hemisphere lesions are prone to END.The combination of argatroban and dual antiplatelet therapy and good collateral circulation can reduce the risk of END.
4.Progress of research on drug therapies for SARS-CoV-2 variants infections
Jiayi ZHANG ; Xiaodong HUANG ; Weidong LI ; Xiaowen HAN ; Zhenyu YIN ; Lei GAO ; Ewetse Paul MASWIKITI ; Bin MA ; Ying ZHANG ; Hao CHEN
Chinese Journal of Nosocomiology 2025;35(10):1577-1583
Thousands of variant gene sequences of SARS-CoV-2 have been emerged since the COVID-19 epidemic broke out in Dec.2019.Alpha(B.1.1.7),Beta(B.1.351),Gamma(P.1),Delta(B.1.617.2)and Omicron(B.1.1.529)were the most representative variants.With the continuous emergence of new variants,the predomi-nant strain in the global pandemic as of Jan.2025 is the Omicron BA.2.86-derived mutant,JN.1.The effectiveness of drugs against Omicron variants remains a key research focus in the treatment of SARS-CoV-2 infections.The infectiousness and pathogenicity of the variants altered remarkably due to mutations in the genome on S protein of the mutant strains,and these emerging variants are more likely to evade immunity and were more infectious than the previous prevalent variants.During the process of combating with the constantly emerging novel variants,drugs showed various effects on treatment of diseases caused by different variants.New drugs and treatment coun-termeasures are constantly updated with the prevalence of various variants.The current status of research on pres-ent drugs for treatment of SARS-CoV-2 and the therapeutic effects on emerging variants are reviewed in the article so as to provide reference for prevention and treatment of the upcoming evolved variants.
5.Analysis of influencing factors of early neurological deterioration in patients with acute anterior circulation large-vessel occlusive mild stroke
Hongyang SUN ; Xuhua LI ; Juan ZHOU ; Yunjie LI ; Jincheng WU ; Hongxing HAN ; Xianjun WANG ; Zhenyu ZHAO
Chinese Journal of Cerebrovascular Diseases 2025;22(2):81-88,104
Objective To explore the influencing factors of early neurological deterioration(END)in patients with acute anterior circulation large-vessel occlusive mild stroke who were treated with medications alone within 72 h after onset.Methods Retrospective consecutive data were collected of patients with acute large-vessel occlusive mild stroke who presented to the Advanced Stroke Center of Linyi People's Hospital within 24 h of onset from January 2021 to December 2022.END was defined as an increase of ≥ 4 points in the National Institutes of Health stroke scale(N1HSS)score within 72 h after onset compared to the admission score.Patients were divided into the neurological deterioration group and the stable condition group(NIHSS score did not increase or increased by 1-3 points within 72 h after onset compared to the admission score).Baseline and clinical data of all patients were collected,including sex,age,cerebrovascular disease risk factors(hypertension,diabetes mellitus,hyperlipidemia,coronary heart disease,atrial fibrillation,smoking,alcohol consumption,stroke history),NIHSS score at admission,time from onset to admission,systolic blood pressure at admission,diastolic blood pressure at admission,laboratory test indicators at admission(blood glucose,glycosylated hemoglobin,homocysteine,total cholesterol,triglyceride,low-density lipoprotein cholesterol,high-density lipoprotein cholesterol,neutrophils,lymphocytes and neutrophil-to-lymphocyte ratio),responsible occlusion artery(internal carotid artery,middle cerebral artery,anterior cerebral artery),affected cerebral hemisphere,collateral circulation score,and medications used within 72 h after admission(intravenous thrombolysis+dual antiplatelet therapy,tirofiban+dual antiplatelet therapy,argatroban+dual antiplatelet therapy,argatroban alone,dual antiplatelet therapy alone).Variables with statistically significant differences in univariate analysis were included in multivariate Logistic regression analysis to explore the independent influencing factors for END in patients with acute anterior circulation large-vessel occlusive mild stroke treated with medications alone.Results A total of 208 patients with acute anterior circulation large-vessel occlusive mild stroke were included,with 143 males and 65 females,aged 38-85 years,with an average age of(64±9)years.Among them,86 patients were in the neurological deterioration group and 122 in the stable condition group.(1)There were statistically significant differences between the neurological deterioration group and the stable condition group in terms of history of diabetes mellitus(39.5%[34/86]vs.17.2%[21/122]),smoking history(43.0%[37/86]vs.29.5%[36/122]),left cerebral hemisphere lesion(57.0%[49/86]vs.41.0%[50/122]),collateral circulation score(4[3,5]vs.5[4,5]),time from onset to admission(7.0[3.0,17.0]hvs.4.3[2.0,11.0]h),blood glucose at admission(7.4[5.8,10.0]mmol/L vs.6.7[5.8,7.7]mmol/L),neutrophil-to-lymphocyte ratio(3.8[2.4,5.1]vs.3.0[2.1,4.3]),dual antiplatelet therapy alone(19.8%[17/86]vs.6.6%[8/122]),and argatroban+dual antiplatelet therapy(8.1%[7/86]vs.29.5%[36/122];all P<0.05).There were no statistically significant differences in the results of the remaining univariate analyses(all P>0.05).(2)Multivariate Logistic regression analysis showed that diabetes mellitus(OR,2.674,95%CI 1.121-6.377,P=0.027)and left cerebral hemisphere vessel occlusion(OR,2.030,95%CI I.083-3.806,P=0.027)were independent risk factors for END in acute anterior circulation large-vessel occlusive mild stroke.Argatroban+dual antiplatelet therapy(OR,0.267,95%CI 0.116-0.613,P=0.002)and high collateral circulation score(OR,0.551,95%CI 0.368-0.824,P=0.004)were independent protective factors for END in acute anterior circulation large-vessel occlusive mild stroke.Conclusions Acute anterior circulation large-vessel occlusive mild stroke patients with diabetes mellitus or left cerebral hemisphere lesions are prone to END.The combination of argatroban and dual antiplatelet therapy and good collateral circulation can reduce the risk of END.
6.Study on quantitative evaluation of risk factors and correlation of type 2 diabetes mellitus complicated with metabolic fatty liver disease by instantaneous elastic imaging of liver FibroScan
Zhenyu YANG ; Minna HAN ; Chen ZHAO ; Chang TAN ; Jing CHEN
Chinese Journal of Diabetes 2025;33(2):131-135
Objective To quantitatively measure the liver fat content and liver fibrosis degree in patients with type 2 diabetes mellitus(T2DM)using liver transient elastography(FibroScan)and analyze the risk factors for metabolism-related fatty liver disease(MAFLD).Methods A retrospective analysis was conducted on the clinical data of 258 patients with T2DM admitted to The Department of Endocrinology,Harbin First Hospital from August 2017 to November 2020.The patients were divided into the simple T2DM group(n=41)and the MAFLD(n=217)group based on whether they had MAFLD.Both groups were assessed using the FibroScan 502 system to measure liver fat content(CAP)and liver fibrosis degree(LSM).General information,TC,TG,LDL-C,HDL-C,FPG,HbA1c,FC-P,FIns,and liver function(AST,ALT,GGT)were compared between the two groups.Results BMI,TG,FC-P,FIns,AST,CAP,and LSM were significantly higher in the MAFLD group than in the simple T2DM group(P<0.05).Pearson phase analysis showed that the DM duration,TG,FC-P and LSM were positively correlated with CAP(P<0.05),while TG,AST and CAP were positively correlated with LSM(P<0.05).Logistic regression analysis revealed that BMI,TG,FC-P,CAP,and LSM were risk factors for T2DM combined with MAFLD.Conclusions Elevated BMI,TG,FC-P,CAP,and LSM are risk factors for the onset of T2DM combined with MAFLD.Additionally,TG is a common factor for the increase in CAP and LSM.FibroScan measurement of CAP and LSM values can quantitatively reveal the liver lesion status in patients with T2DM.
7.Clinicopathological features and molecular genetic characteristics of central nerv-ous system high-grade neuroepithelial tumors with BCOR alterations
Ming HAN ; Wanming HU ; Hongjuan ZHANG ; Yingmei WANG ; Danhui ZHAO ; Zhenyu KE ; Zhe WANG ; Yu-qiao XU
Chinese Journal of Clinical and Experimental Pathology 2025;41(9):1156-1162
Purpose To investigate the clinicopathological features,diagnosis,and molecular genetic characteris-tics of central nervous system(CNS)high-grade neuroepithelial tumors with BCOR alterations.Methods Five cases of CNS high-grade neuroepithelial tumors harboring BCOR alterations were collected.Using immunohistochemistry and molecular detection to analyze its clinical and histological characteristics,and review relevant literatures.Results A-mong the 5 patients,3 cases with EP300 ∷ BCOR tumor(male-to-female ratio 2∶1).These tumors were located in supratentorial regions(right temporal lobe,right frontotemporal lobe,and right frontal lobe).The 2 patients with BCOR-ITD tumors were younger,both with tumors located in the left cerebellum.Imaging studies revealed well-defined large mass lesions in all cases.Histologically,all 5 cases tumor exhibited ependymoma-like or oligodendroglioma-like morphology,featuring uniformly oval or round cells.Focal areas showed increased cellular density,nuclear enlarge-ment,and readily identifiable mitotic figures indicative of anaplastic features.A rich capillary network was frequently observed in the stroma.Palisading necrosis,microcystic changes,and microcalcifications were present in 3 cases.Im-munohistochemically,all 5 cases consistently expressed vimentin and CD56,focal Olig-2 positivity,variable S-100 ex-pression,and were uniformly negative for GFAP.BCOR immunostaining was weakly positive in 1 case with an EP300∷ BCOR fusion and strongly positive in 2 cases with BCOR-ITD.NGS identified an EP300 ∷ BCOR fusion in 3 cases,and Sanger sequencing confirmed the ITD in exon 15 of BCOR gene in 2 cases.During a follow-up period of 8 to 77 months,one pediatric patient with a BCOR-ITD tumor died,while the remaining four patients were alive with no evi-dence of recurrence or metastasis.Conclusion BCOR-ITD and EP300 ∷ BCOR fusion tumors are similar in morphology and immunophenotype,and the incidence rate of BCOR fusion tumors may be underestimated.NGS sequencing based on DNA and RNA and DNA methylation spectrum analysis are helpful for accurate diagnosis of this type of tumor.
8.Study on quantitative evaluation of risk factors and correlation of type 2 diabetes mellitus complicated with metabolic fatty liver disease by instantaneous elastic imaging of liver FibroScan
Zhenyu YANG ; Minna HAN ; Chen ZHAO ; Chang TAN ; Jing CHEN
Chinese Journal of Diabetes 2025;33(2):131-135
Objective To quantitatively measure the liver fat content and liver fibrosis degree in patients with type 2 diabetes mellitus(T2DM)using liver transient elastography(FibroScan)and analyze the risk factors for metabolism-related fatty liver disease(MAFLD).Methods A retrospective analysis was conducted on the clinical data of 258 patients with T2DM admitted to The Department of Endocrinology,Harbin First Hospital from August 2017 to November 2020.The patients were divided into the simple T2DM group(n=41)and the MAFLD(n=217)group based on whether they had MAFLD.Both groups were assessed using the FibroScan 502 system to measure liver fat content(CAP)and liver fibrosis degree(LSM).General information,TC,TG,LDL-C,HDL-C,FPG,HbA1c,FC-P,FIns,and liver function(AST,ALT,GGT)were compared between the two groups.Results BMI,TG,FC-P,FIns,AST,CAP,and LSM were significantly higher in the MAFLD group than in the simple T2DM group(P<0.05).Pearson phase analysis showed that the DM duration,TG,FC-P and LSM were positively correlated with CAP(P<0.05),while TG,AST and CAP were positively correlated with LSM(P<0.05).Logistic regression analysis revealed that BMI,TG,FC-P,CAP,and LSM were risk factors for T2DM combined with MAFLD.Conclusions Elevated BMI,TG,FC-P,CAP,and LSM are risk factors for the onset of T2DM combined with MAFLD.Additionally,TG is a common factor for the increase in CAP and LSM.FibroScan measurement of CAP and LSM values can quantitatively reveal the liver lesion status in patients with T2DM.
9.Exploring on Mechanism of Forsythiae Fructus-Lonicerae Japonicae Flos in Treatment of Acute Lung Injury Based on Serum Metabolomics
Wanshun CHANG ; Kang LI ; Zhaohua CHEN ; Yuqing HAN ; Yanwen CHEN ; Yanhui ZHU ; Zhenyu CHENG ; Haiying HUANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(24):117-125
ObjectiveTo investigate the mechanism of Forsythiae Fructus-Lonicerae Japonicae Flos(FF) in the treatment of acute lung injury(ALI) by investigating the effects of FF on serum metabolomics of rats with ALI. MethodsThirty male SD rats were acclimated for 1 week, and 6 rats were randomly selected as the blank group. The other 24 rats were injected with lipopolysaccharide(LPS) solution by tracheal drip to establish an ALI model. After successful model establishment, the rats were randomly divided into the model group, the FF low-dose group(3.0 g·kg-1), the FF high-dose group(6.0 g·kg-1), and the dexamethasone group(5 mg·kg-1), with six rats in each group. The FF low- and high-dose groups and the dexamethasone group were received daily oral administration of the corresponding drug solution, and the blank group and the model group were gavaged with an equal amount of saline, treatment was administered continuously for 3 d. The pathological conditions of rat lung tissues were evaluated by hematoxylin-eosin(HE) staining, wet/dry mass ratio(W/D) of the lung tissues, and protein concentration in rat bronchoalveolar lavage fluid(BALF). Metabolomic analysis of rat serum was performed by ultra-performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS), combined with multivariate statistical analysis, the potential biomarkers of FF in treating ALI were screened by variable importance in the projection(VIP) value>1, P<0.05 from t-test, and log2fold change(FC)>1 or log2FC<-1. Kyoto Encyclopedia of Genes and Genomes(KEGG) database combined with MetaboAnalyst were used for pathway analysis of the screened differential metabolites. The protein expression levels of sphingosine-1-phosphate(S1P), phosphatidylinositol 3-kinase(PI3K), protein kinase B1(Akt1), and phosphorylated Akt1(p-Akt1) were examined by Western bolt. The expression levels of interleukin(IL)-6, IL-1β, and tumor necrosis factor(TNF)-α in BALF were detected by enzyme-linked immunosorbent assay(ELISA). ResultsCompared with the blank group, rats in the model group showed ALI pathological features such as alveolar lumen dilatation, interstitial hemorrhage and massive inflammatory cell infiltration, and the protein concentration in BALF and W/D of the lung tissues were significantly elevated(P<0.01). Compared with the model group, the low- and high-dose groups of FF as well as the dexamethasone group exhibited reduced pulmonary bronchial hemorrhage in rats, and the protein concentration in BALF and W/D were significantly decreased(P<0.05), and the lung injury was significantly alleviated. Analysis of rat serum metabolomics revealed that FF downregulated 38 biomarkers. Pathway enrichment analysis showed that FF primarily exerted therapeutic effects through 7 key metabolic pathways, including arginine biosynthesis, sphingomyelin metabolism, alanine, aspartate and glutamate metabolism, taurine and hypotaurine metabolism, α-linolenic acid metabolism, niacin and nicotinamide metabolism, and retinol metabolism. The results of Western bolt and ELISA showed that, compared with the blank group, the model group exhibited significantly elevated expression levels of S1P, PI3K, Akt1 and p-Akt1 proteins in the lung tissues, as well as increased expression levels of IL-6, IL-1β and TNF-α in BALF(P<0.01). Compared with the model group, the expression levels of the aforementioned indicators were significantly downregulated in the low- and high-dose FF groups as well as the dexamethasone group(P<0.05, P<0.01). ConclusionFF may play a role in ALI by regulating amino acid metabolism and lipid metabolism, and its mechanism may be related to the inhibition of S1P/PI3K/Akt1 signaling pathway to attenuate the inflammatory response caused by ALI.
10.Analysis of 21 cases of Barth syndrome in children
Yanyan XIAO ; Wen YU ; Wenhong DING ; Zhenyu LYU ; Zhiyuan WANG ; Ziwei LIU ; Ling HAN
Chinese Journal of Pediatrics 2025;63(3):278-282
Objective:To investigate the clinical manifestations, treatment, and outcomes of Barth syndrome (BTHS).Methods:A retrospective analysis was conducted on 21 pediatric patients diagnosed with BTHS between January 2010 and December 2023 at Beijing Children′s Hospital, Beijing Anzhen Hospital, and Beijing JingDu Children′s Hospital. Clinical data including gender, age at onset, initial symptoms, clinical manifestations, personal history, family genetic history, and laboratory tests (neutrophil count, echocardiography, electrocardiogram and genetic testing) were reviewed.Results:All the 21 patients were male, with the age of onset at 4.1 (1.1, 9.3) months. Main clinical manifestations included heart failure (18 cases), neutropenia (16 cases), respiratory symptoms (15 cases), 3-methylpentenediuria (7 cases),develop retardation (8 cases), gastrointestinal symptoms (7 cases), fatigue and anorexia (6 cases), and recurrent infection (2 cases). Electrocardiogram abnormalities included ST changes (18 cases), flattened T wave and low voltage of limb leads (2 cases), and abnormal Q waves in lead Ⅰ and avL (1 case). Echocardiographic features showed increased trabeculation, interventricular septum and left ventricular wall thickening, and left ventricular enlargement with reduced ejection fraction. Genetic testing identified TAZ gene variations in all 21 patients: 11 missense mutations, 2 nonsense mutations, 2 frameshift mutations, 2 whole code mutations, 2 exon deletions, 1 splicing mutation, and 1 synonymous mutation. Fifteen mutations were maternally inherited, 2 were de novo, and 4 lacked verified variant origin.In terms of treatment, all 18 patients with heart failure received routine heart failure treatment, of whom 11 patients also received intravenous immunoglobulin and corticosteroids. After the follow-up of 91.0 (75.5, 109.5) months, 15 of the 18 patients showed restoration of cardiac function after 4.5 (3.0, 9.8) months of treatment, with one case of significant improvement, while 2 cases suddenly died.Conclusions:BTHS predominantly affects males with early onset, mainly characterized by abnormal cardiac structure and function, along with clinical features including fatigue, delayed growth and development, and neutropenia. Early diagnosis and intervention, including heart failure treatment, intravenous immunoglobulin, and corticosteroids, can lead to significant improvement in cardiac function, though sudden death remains a risk.

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