ObjectiveTo enhance understanding of the diagnosis and management of dual tachycardia in infant.MethodsA retrospective analysis was conducted on the clinical data and management of a infant with dual tachycardia. A review of the relevant literature was also performed.ResultsA female infant, born 43 min, was transferred to our hospital's NICU via emergency transfer due to “tachycardia lasting over half an hour after premature birth.” To better understand the supraventricular tachycardia an esophageal electrode was inserted, the esophageal electrocardiogram confirmed the diagnosis of dual tachycardia (persistent atrial tachycardia combined with short episodes of ventricular tachycardia).ConclusionThis case provides valuable insight into the diagnosis and management of dual tachycardia in infant. For patients presenting with tachycardia, esophageal electrocardiogram is crucial.

Kawasaki disease (KD) is an acute systemic immune‑mediated vasculitis that can lead to coronary artery lesions. Its etiology remains unclear and may involve immune responses, inflammatory reactions, and vascular endothelial injury mediated by multiple signaling pathways. In recent years, the cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling pathway has attracted widespread attention for its pivotal role in infection, autoimmune diseases, and inflammatory diseases. By activating type I interferons and pro-inflammatory mediators, this pathway participates in the inflammatory cascade. This review summarizes the mechanistic roles of the cGAS-STING pathway in KD and the prospects for clinical application, providing a new perspective for basic research and clinical intervention.

Objectives Coronary artery anomalies are rare both in coronary angiogram and computed tomography angiography. Hypertrophic cardiomyopathy (HCM) is the most frequent inherited cardiac disease. The phenotype of HCM associated with anomalous coronary origin is not commonly seen especially in children.Case presentation We describe a case series of two children with HCM combined right coronary artery (RCA) originated from left coronary sinus. Case 1 was a 9-month-old female with TTN gene heterozygous mutation (p.R16724L) who exhibited cardiac insufficiency. Case 2 was a 12-year-old male with MYBPC3 gene heterozygous mutation (p.R820Q) who only exhibited intermittent chest pain. A total of 7 HCM cases with RCA originated from left coronary sinus have been reported with our literature review. Case 1 is the youngest child patient in our report until now. Moreover, the echocardiogram of case 1 is similar with restrictive cardiomyopathy (RCM) and it demonstrates the progression of HCM to heart failure. So, HCM with TTN gene mutation may exhibit cardiac insufficiency more early. And the gene mutation site of TTN has never been reported in previous HCM cases.Conclusions HCM coexisted with anomalous origin of RCA has different clinical presentation, and it maybe due to different gene mutation.

Polymorphic ventricular tachycardia (VT), particularly in the absence of structural heart disease, has a strong genetic foundation primarily rooted in mutations affecting cardiac ion channels and associated regulatory proteins. Here, we report two patients with polymorphic VT harboring potassium channel subfamily J member 2 (KCNJ2) gene mutations. The first case is a 13-year-old girl presenting with periodic paralysis, polymorphic VT, and a prolonged QT interval. She was sequentially treated with metoprolol, verapamil, amiodarone, moricizine, and mexiletine, along with three radiofrequency catheter ablation sessions, but the therapeutic effect was unsatisfactory. Genetic testing revealed a de novo c.406T > C (p.S136P) variant in the KCNJ2 gene. During a 10-year follow-up period, she never experienced syncope. The second patient is a 5-year-old boy presenting with thumb adduction, polymorphic VT, and a prolonged QT interval. He was treated sequentially with metoprolol and flecainide, and his premature ventricular contraction burden decreased significantly after flecainide therapy. Genetic testing identified a de novo c.652C > T (p.A218T) variant in the KCNJ2 gene. This case report updates our understanding of KCNJ2 gene mutations. Arrhythmias due to KCNJ2 mutations respond poorly to antiarrhythmic drugs, but flecainide may be a promising therapeutic option. Arrhythmias associated with KCNJ2 mutations tend to have a more benign clinical course, but identifying mutation carriers at risk of life-threatening arrhythmias remains challenging.

ObjectiveTo describe and explore the therapeutic value of transesophageal atrial pacing (TEAP) for supraventricular tachycardia in newborns.MethodsClinical data from 22 cases (15 males, 7 females) at Shanghai Children's Hospital (2015–2025) were retrospectively analyzed to evaluate the efficacy of TEAP.ResultsSurface ECGs demonstrated paroxysmal SVT and type I atrial flutter in 11 cases respectively, with 8 patients having heart failure. After inserting the esophageal electrode catheter, transesophageal electrocardiography confirmed Atrioventricular Reentrant Tachycardia (AVRT) in 9 of 11 SVT cases; TEAP successfully terminated tachycardia in 7 (77.8% success). In a case, pulse stimulation had not yet been administered, a declining trend in blood pressure was observed, which necessitated electrical cardioversion. Another with short paroxysms post-TEAP was maintained on oral medication. Two cases of atrial tachycardia confirmed by transesophageal electrocardiogram did not respond to TEAP. Among 11 type I atrial flutter cases, TEAP restored sinus rhythm in 9 (81.8% success); one had intermittent short paroxysms and one showed reduced atrioventricular conduction, both switched to oral drugs.ConclusionTEAP is a relatively safe and effective acute treatment for reentrant SVT (AVRT, AFL) when medication cannot promptly and effectively terminate tachycardia, particularly for patients with heart failure.

BACKGROUND:Since 1998, the Shanghai Kawasaki Disease Research Group has systematically conducted four epidemiological surveys on Kawasaki disease (KD) once every 5 years. This study aimed to to analyze the epidemiological trends of KD and the potential impacts of the COVID-19 pandemic in Shanghai from 2018 through 2022. METHODS:Medical records of patients with KD diagnosed from January 2018 through December 2022 were retrospectively analyzed. Data were based on the Shenkang Kawasaki Disease Specific Database established by Shanghai Shenkang Hospital Development Center. Additional data were collected through questionnaires distributed to 48 hospitals providing pediatric medical care via the Shanghai Kawasaki Disease Research Group Network. The primary outcomes were the number and incidence of children with KD. The secondary outcomes included clinical features and changes observed during the COVID-19 pandemic. RESULTS:A total of 5791 cases were enrolled including 3549 permanent residents of Shanghai. The incidence of KD was 61.07 to 94.84 per 100,000 children aged <5 years from 2018 to 2022, with an average annual incidence of 80.7 per 100,000. The incidence decreased compared to the last survey (94.7 per 100,000), with pronounced declines in 2020 (62.74 per 100,000) and 2022 (61.07 per 100,000), which coincided with the implementation of COVID-19 containment measures. The male-to-female ratio was 1.58:1.00. The median age at onset was 25.3 months (interquartile range:14.1, 46.1 months). Of the 3654 cases with treatment information, 3310 were treated with intravenous immunoglobulin (IVIG), of which 317 (9.58%) were IVIG non-response. Out of the 4099 echocardiogram reports, 553 (13.49%) developed coronary artery lesions, and 191 (4.87%) had medium to large coronary artery aneurysms. No deaths were reported in this survey. CONCLUSIONS:The incidence of KD in Shanghai showed a downward trend during 2018-2022 compared to 2013-2017. The containment measures implemented during the COVID-19 pandemic, such as citywide suspension of work and school closures, may have affected the incidence of KD.

Background:Paediatric patients who underwent surgery for mitral regurgitation (MR) have a high risk of recurrence or death; however, no prediction tool has been developed to risk-stratify this challenging subpopulation. Methods:In this multicentre cohort study, paediatric patients undergoing surgery for congenital MR in Shanghai Children's Medical Center in January 1st, 2009-December 31st, 2022 were included for analysis while those had a combination with infective endocarditis, anomalous left coronary artery from the pulmonary artery, rheumatic valvular disease, connective tissue disease, or single ventricle were excluded. A Cox regression model predictive of the primary outcome (a composite of mortality or mitral valve [MV] re-operation) was derived and converted to a point-based risk score. This score was externally validated in a cohort of patients undergoing MR surgeries between January 1st, 2009 and December, 31st, 2022 in eight independent hospitals in China. The Harrell's c index and Hosmer-Lemeshow test was used to quantify the discrimination and calibration of the risk score. Findings:In total, 2640 patients (female: 57% [n = 1505]) with a median age of 0.99 (IQR, 0.47-2.60) years were included. The primary outcome occurred in 262 patients (16.6%) over a median of 5.7-year follow-up in the derivation cohort (n = 1581; median age of 1.03 years [IQR, 0.47-2.67]) and in 130 (12.3%) over a median of 7.1-year follow-up in the validation cohort (n = 1059; median age of 0.93 years [IQR, 0.46-2.51]). The score variables included preoperative variables (age, the presence of primary MR, N-terminal pro-brain natriuretic peptide, left ventricular ejection fraction, and left atrium z score), perioperative changes in z scores of LA and left ventricular end-diastolic dimension, and the procedural variable (use of MV annuloplasty or not). This risk score, ranging from -22 to 10, yielded strong discrimination (Harrell's c index: 0.85, 95% CI, 0.83-0.87) and exhibited good calibration of postoperative 10-year primary outcome (Hosmer-Lemeshow; χ2 = 9.85; P = 0.33) in the derivation cohort, which maintained in the validation cohort (Harrell's c index: 0.86, 95% CI, 0.83-0.89; Hosmer-Lemeshow; χ2 = 23.80; P = 0.64). In addition, a simplified stratification of the score model (low-risk: -22 to -5, intermediate risk: -4 to 0, high risk: >0) showed good performances in predicting the primary outcome in both derivation and validation (Ps < 0.001). Interpretation:The scoring system represents a crucial step towards personalised management care for paediatric MR. However, this model has not been applied in clinical practice and require validation in large and diverse cohorts of patients. Further work should aim to incorporate other novel multi-modality metrics to optimise the PRIMARY score. Funding:Chinese National Natural Science Foundation of China, Science and Technology Commission of Shanghai Municipality, Science and Technology Project of Guizhou Province.

BackgroundKawasaki Disease (KD) is an acute systemic vasculitis syndrome predominantly affecting children, with a propensity to induce coronary artery lesions. Aberrant immune activation and cytokines cascade reactions are involved in its pathogenesis. The aim of this study is to investigate the changes in immune cell communication during the course of KD and to identify potential biomarkers.MethodsThe study enrolled seven pediatric patients diagnosed with Kawasaki Disease (KD) between December 2019 and December 2021. Single-cell RNA sequencing (scRNA-seq) technology was utilized to analyze peripheral blood mononuclear cells (PBMCs). Bioinformatics methods including quality control, dimensionality reduction, cell annotation, differential expression analysis, cell communication analysis, and co-expression network analysis were employed for data processing and analysis.ResultsThis study utilized single-cell sequencing technology to uncover the dynamics of immune cell communication during the course of KD, revealing a significant increase in the number of CD14+ monocytes in the early stages of vasculitis, which play a central role in cell-cell communication. SELPLG was identified as a particularly crucial gene in the signal transduction among immune cells. The study also observed various cellular communication patterns of vasculitis at different time points and identified co-expression modules related to ribosomal function, cell proliferation, and immune responses in CD19+ B cells, CD4+ T cells, CD8+ T cells, CD14+ monocytes, and CD16+ monocytes. Notably, the expression of the ITK gene in CD14+ monocytes stood out. Furthermore, MHC-I genes were the most active molecules involved in signal transduction, and the expression of CD40 genes increased with the prolongation of vasculitis duration.ConclusionCD14+ monocytes play a pivotal role in cellular communication during the activation process of KD vasculitis, with SELPLG and ITK as important communication signal genes. These findings provide a novel perspective for the discovery of biomarkers, prediction of disease progression, and the development of targeted treatment strategies for KD.Clinical Trial Registrationhttp://www.medresman.org.cn/pub/cn/proj/projectshow.aspx?proj=7739, identifier ChiCTR, ChiCTR2100044729.

Background:Kawasaki Disease (KD) is a vasculitis syndrome featured with a high and persistent fever in children. It is the leading cause of coronary artery lesions (CALs) for children in developed countries. Methods:Single-cell RNA sequencing analyses were performed for the peripheral blood mononuclear cells from three KD non-CAL patients before/after IVIG treatment (KD BT and KD AT), three KD CAL patients before IVIG treatment (CAL BT), and three KD CAL patients after IVIG treatment (CAL AT). Results:Overall expression analyses show immunoglobulin and adaptive immunity related genes are commonly upregulated in CAL BT and AT patients while antimicrobial and innate immunity related genes are commonly downregulated in them. Pseudo-time analyses demonstrate that CAL BT patients have a disorganized cell development trajectory with multiple overlapped cell linages and CAL AT patients have a dysregulated B cell developmental trajectory featured with a mixed monocyte and B lineage. In gene branch pseudo-time analyses, the repressed expression of SPI1 and MT2A are found in CAL BT patients, which is similar to their expression patterns in KD BT patients; while the early elevated expression of SPI1 and MT2A could partly explain the dysregulated B cell development in CAL AT patients. Cell communication analyses demonstrates that CAL BT patients have the lower number of inferred cell-to-cell interactions and the weakest interaction strength among four groups, whereas CD14 monocytes in CAL AT and KD BT patients have strong cell-to-cell interaction strength which may contribute to CAL or KD pathogenesis. In the monocytes of CAL patients, MCH-II is a significantly increased signal and RESISTIN is a significantly decreased signal compared to non-CAL counterpart. Conclusions:Our results suggest that MCH-II is a bad signal for indicating CAL development while RESISTIN is a good signal for protecting from CAL development.

Background:Pulmonary arterial hypertension (PAH) is a severe pulmonary vascular disease causing right heart failure. Idiopathic PAH (IPAH), a type of PAH with unknown causes, has a particularly poor prognosis. Current targeted therapies are insufficient, highlighting the need for new therapeutic targets and biomarkers. This study aims to identify potential metabolic biomarkers and dysregulated pathways for the diagnosis and treatment of IPAH through integrated metabolomic and transcriptomic analyses. Methods:This study enrolled PAH patients [2023-2024] and collected pretreatment blood samples, using healthy children as controls. RNA sequencing analyzed gene expression in peripheral blood mononuclear cells (PBMCs), and liquid chromatography-mass spectrometry (LC-MS) detected blood metabolites. Metabolites were identified via multiple databases, and bioinformatics analyses [principal component analysis (PCA), partial least squares discriminant analysis (PLS-DA)] explored PAH's molecular mechanisms. Results:In PAH patients, 1,629 differentially expressed genes (DEGs) were found, with 802 upregulated and 827 downregulated genes, enriched in cell cycle regulation, stress response, and mitochondrial dysfunction. Metabolomics showed 30 upregulated and 29 downregulated metabolites, mainly in amino acid and energy metabolism. Key genes like LDHB and IRS2, and metabolites such as glucose and L-glutamine, are closely linked to PAH's pathology, especially in glycolysis pathways. Conclusions:The study underscores the intimate connection between transcription factor (e.g., JUNB, ZNF281)-regulated gene expression (e.g., LDHB, IRS2) and metabolite (e.g., glucose, L-glutamine) alterations in PAH, revealing that key genes and metabolites closely tied to the disease's pathology.

Thrombosis is a major complication of coronary artery aneurysms, particularly in patients with Kawasaki disease, yet the biomechanical triggers remain insufficiently understood. This study employs a particle-resolved computational fluid dynamics-discrete phase model framework to quantify the effects of inflammation-induced endothelial roughness and impingement of the upstream flow on platelet-wall collision behavior, a critical initiating step in the formation of thrombuses. Using idealized aneurysm models with parametrically defined surface irregularities and varying inflow orientations, we demonstrate that greater roughness severity markedly amplifies platelet collisions, particularly at protruding surface crests. Furthermore, altered inflow angles induce asymmetrical jet impingement and vortical structures, concentrating platelet impacts within specific aneurysmal regions, consistent with clinical thrombus distribution patterns. Quantitatively, increasing the inflow angle to 90 degrees amplified platelet-wall collisions by 22.5-fold compared to the 0 degrees baseline, while augmenting the inflammatory roughness height from 0.05 to 0.1 mm resulted in a 2.79-fold rise. In contrast, macroscopic geometric parameters, such as aneurysm aspect ratio, exhibit limited influence during the thrombogenic phase. Variations in the macroscopic aneurysm aspect ratio led to negligible changes in collision counts (<8.3%). Collectively, these findings highlight the dominant roles of inflammatory remodeling and hemodynamic disturbances in governing thrombosis risk and suggest their incorporation into future risk stratification strategies for Kawasaki disease associated coronary artery aneurysms.

Background:Kawasaki disease (KD), an acute vasculitis syndrome affecting children under 5 years, lacks specific biological markers for diagnosis. This study explores immune cell activation in KD patients during early vasculitis symptoms to identify potential diagnostic markers and guide intravenous immunoglobulin (IVIG) therapy timing. Methods:The study included single-cell sequencing (SCS) from 10 patients, comprising seven with KD and three controls, as well as flow cytometry and polymerase chain reaction (PCR) validation from 277 patients. This included 95 children with KD and controls consisting of 12 healthy children and 170 children with febrile illnesses. Children with KD were divided into early vasculitis group and late vasculitis group based on whether the symptoms of vasculitis were less than or more than three days. peripheral blood mononuclear cells (PBMCs) were sequenced using the 10× Genomics platform, and flow cytometry and quantitative PCR (qPCR) verified changes in gene expression and cell proportions. Results:KD patients showed higher CD19+ B cells, particularly in the late vasculitis group. Pre-treatment CD19+ B cells were elevated and normalized post-IVIG treatment. Flow cytometry validation confirmed the increase in CD19+ B cells before IVIG treatment, which decreased to normal levels post-treatment, aligning with the SCS results. The study identified a total of 1,680 differentially expressed genes (DEGs) involved in B cell activation and immune responses, with core genes like IFITM1, CD55, FCER1G, and others down-regulated in the late vasculitis group. Time-series analysis revealed genes with high expression in early vasculitis that down-regulated over time, including S100A8, S100A9, and S100A12 which were further validated using qPCR, showing higher expression in the early stage of KD compared to healthy controls. Conclusions:This study highlights the close relationship between the number of immune cells and gene expression changes with the duration of vasculitis in KD, providing new insights into the pathophysiological mechanisms of the disease and potential prognostic indicators for clinical treatment.

BackgroundKawasaki disease (KD) is an acute systemic vasculitis that can lead to acquired heart disease in children mostly from in developed countries. The previous research showed that B cells in KD patients underwent a profound change in both the cell numbers and types after intravenous immunoglobulin (IVIG) therapy.MethodsWe performed the single-cell RNA-sequencing for the peripheral blood mononuclear cells (PBMCs) from three febrile patients and three KD patients to investigate the possible mechanism underlying B cell developmental dysfunction in KD. The pseudo-time analysis was employed to study the developmental trajectories of the PBMCs in febrile control and KD patients.ResultsOverall single-cell expression profiles show that the biological processes of immunity, B cell activation pathway and their related biological entities are repressed in KD patients before IVIG treatment compared to febrile patient and KD patients after IVIG treatment. The differentially expressed gene analyses further demonstrate that B cell signaling pathway is downregulated in B cells and plasma blast cells of KD patients before treatment while cell cycle genes and MYC gene are upregulated in dendritic cells (DCs) and hematopoietic stem and progenitor cells (HSPCs) of KD patients before treatment. The biological process of immune response is upregulated in the HSPCs of KD patients before treatment in our dataset while the biological process of inflammatory response is upregulated in the HSPCs of KD patients before treatment in GSE168732 dataset. Single-cell trajectory analyses demonstrate that KD patients before treatment have a shortened developmental path in which B cells and T cells are failed to differentiate into separate lineages. HSPD1 and HSPE1 genes show an elevated expression level in the early cell development stage of KD patients before treatment accompanied with the repression of MYC, SPI1, MT2A and UBE2C genes. Our analyses of all B cells from KD patients before treatment show most of B cells are arrested in a transitional state with an ill developmental path compared with febrile patients and KD patients after treatment.ConclusionOur results indicate that the immune premature HSPCs accompanied with the abnormal expression dynamics of cell cycle and SPI1 genes are the mechanism underlying B cell developmental dysfunction in KD patients.

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiomyopathy, which is one of the most common reasons for cardiac arrest in children or adolescents. It is characterized by ventricular hypertrophy (usually left ventricle), small ventricular cavity, and reduced ventricular diastolic compliance found by echocardiography in the absence of abnormal load (such as hypertension or aortic stenosis). HCM is usually caused by mutations in genes encoding sarcomere or sarcomere-related genes. Whole exome sequencing (WES) is performed to identify probable causative genes. Through WES, we identified LIM domain-binding protein 3 (LDB3) mutations (R547Q and P323S) respectively in an 11-year-old HCM girl and a 6-year-old HCM boy. Neural network analyses showed that the LDB3 (R547Q and P323S) mutation decreased its protein stability, with confidence scores of −0.9211 and −0.8967. The STRUM server also confirmed that the mutation decreased its protein stability. Thus, LDB3 mutation may be associated with heritable HCM. To our knowledge, this is the first time to report LDB3 heterozygous variants (R547Q and P323S) responsible for heritable HCM.

目的 评估超重/肥胖儿童的自主神经功能情况.方法 通过研究动态心电图的心率变异性(HRV)及心率减速力(DC)指标,平板运动试验的运动当量、达峰值心率(HRmax)的运动时间、运动终止后第一分钟心率恢复(HRR 1)、恢复至静息心率时间、静息期收缩压、运动峰值收缩压及运动恢复期第三分钟收缩压指标来评估肥胖儿童的自主神经功能.结果 肥胖组儿童31例,男23例、女8例,平均年龄(10.4±2.6)岁;超重组69例,男35例、女34例,平均年龄(10.9±2.7)岁;对照组100例,男57例、女43例,平均年龄(10.2±2.7)岁.超重、肥胖与对照组三组儿童之间正常RR间期标准(SDNN)、相邻RR间期差值的均方根(RMSSD)、5 min均值标准差(SDANN)、NN 50占所有NN间期个数的百分数(pNN 50)、低频功率(LF)/高频功率(HF)、心率减速力(DC)值的差异均有统计学意义(P<0.05).超重、肥胖与对照组三组儿童之间达HRmax运动时间、运动当量、HRR 1/HRmax、恢复至静息心率时间、静息期收缩压、运动峰值收缩压、恢复期第三分钟收缩压/峰值收缩压的差异均有统计学意义(P<0.05).结论 超重/肥胖儿童存在心脏自主神经功能紊乱,尤其迷走神经功能的受损,需要引起足够重视,积极干预,预防心血管事件的发生.

Abstract Objectives: To investigate mRNA and long non-coding RNA (lncRNA) expression profiles in monocrotaline (MCT)- mice. Materials and Methods: Lung tissues (Control-Vehicle, MCT-Vehicle, and MCT-C75) were examined by high-throughput sequencing (HTS). Aberrantly expressed mRNAs and lncRNAs were analysed by bioinformatics. Cell proliferation and cell cycle analysis were performed to detect the potential protective effects of C75, an inhibitor of fatty acid synthase. The signal pathways associated with inflammatory responses were verified by RT-PCR. Results: RNA sequencing data reveals 285 differentially expressed genes (DEGs) and 147 lncRNAs in the MCT-Vehicle group compared to the control group. After five-week of C75 treatment, 514 DEGs and 84 lncRNAs are aberrant compared to the MCT-Vehicle group. Analysis of DEGs and lncRNA target genes reveals that they were enriched in pathways related to cell cycle, cell division, and vascular smooth muscle contraction that contributes to the PAH pathological process. Subsequently, the expression of eight DEGs and three lncRNAs is verified using RT-PCR. Differentially expressed lncRNAs (ENSMUSG00000110393.2, Gm38850, ENSMUSG00000100465.1, ENSMUSG00000110399.1) may associate in PAH pathogenesis as suggested by co-expression network analysis. C75 can protect against MCT-induced PAH through its anti-inflammatory and anti-proliferation. Conclusions: These DEGs and lncRNAs can be considered as novel candidate regulators of PAH pathogenesis. We propose that C75 treatment can partially reverse PAH pathogenesis through modulating cell cycle, cell proliferation, and anti-inflammatory.

PURPOSE:Kawasaki disease (KD) is an acute systemic vasculitis mainly found in the medium-sized arteries, especially the coronary arteries. Immune system is involved in the pathogenesis of acute KD in children, but the functional differences in the immune system between healthy children and KD patients remain unclear.PATIENTS AND METHODS:A total of 190 KD patients and 119 healthy controls were recruited for the next-generation sequencing of 512 targeted genes from 4 immune-related pathways. Subsequently, the peripheral blood mononuclear cells (PBMCs) were isolated. RNA sequencing of the LPS treated PBMCs from additional 20 KD patients and 20 healthy controls was used to examine the differentially expressed genes (DEGs). Then, an expression quantitative trait locus (eQTL) analysis combined with previously analyzed RNA data were used to examine the DEGs. Finally, the serum levels of 13 cytokines were detected before and after LPS treatment in 40 samples to confirm the findings from eQTL analysis.RESULTS:A total of 319 significant eQTL were found, and both eQTL analysis and RNA sequencing showed some DEGs were involved in the connective tissue disorders and inflammatory diseases. DEGs that function to negatively regulate immunity were closely related to the pathogenesis of KD. In addition, the serum levels of IL-10 (an inflammatory and immunosuppressive factor) and SCD25 (an important immunosuppressant) reduced significantly in the KD patients.CONCLUSION:Our study shows the expression of factors responsible for the negative control of innate immunity is altered, which plays an important role in the etiology of KD.

Fetal arrhythmias (FA) are common cardiac disorders in clinics of obstetrics and pediatric cardiology. Approximately 10% FA could persist or even progress, which may result in secondary organ injury, such as fetal heart failure, fetal premature delivery or even fetal demise. Based on accurate prenatal diagnosis of FA, reasonable classification and timely intervention for severely affected fetuses could improve prognosis of FA, which has great medical and sociological significance. Despite much progress have been achieved in field of prenatal management of FA in foreign countries, there are a few relevant studies in China. Moreover, there are great differences in prenatal management strategies for FA among different medical centers. In order to improve understanding of perinatal management of FA for obstetricians and pediatricians, standardize the intervention indications and treatment strategies, and promote the benign development of prenatal intervention for FA in China, experts from the Fetal and Perinatal Heart Disease Cooperation Team of Pediatric Cardiovascular Group of Chinese Pediatric Society, Chinese Medial Association put forward the Expert Guidance on Prenatal Treatment and Management for Fetal Arrhythmia after full discussion on prenatal intervention indications, treatment strategies as well as details of medicines selections according to the latest research progresses and current domestic situations. However, relevant clinical studies are limited to single-center, retrospective, and small sample size studies and the conclusions differed among different studies. Furthermore, only a minority of data were from China. Therefore, the evidences level are not so high. With further development of prenatal intervention for FA, the release of data from several multiple-centers, prospective and randomized controlled clinical studies, and with joint efforts of domestic clinicians, the content of this guidance will continue to be update and improved, and it will also be more in line with the actual domestic clinical practice needs, to achieve the goal of promoting continuous improvement of prenatal treatment and management of FA.

TECRL, first reported in a Sudanese family with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 2016. TECRL, is an endoplasmic reticulum (ER) protein preferentially expressed in the heart, playing a role in cardiomyocyte calcium homeostasis. Using Sendaivirus-mediated reprogramming, we generated an induced pluripotent stem cell (iPSC) line from the CPVT patient’s peripheral blood mononuclear cell. The iPSC exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three layers in vitro. Additionally, the iPSC line maintained a normal karyotype, retained the pathogenic TECRL mutation, and the cell resource facilitated a platform to explore the CPVT mechanisms related to TECRL mutations.

目的 分析介入封堵和外科修补治疗儿童膜周型室间隔缺损(pmVSD)后常见并发症情况,为临床上个体化优选治疗方案提供依据.方法 回顾性分析2014年6月至2020年4月期间住院治疗的pmVSD患儿的临床资料.根据最终采取的手术方式分为介入组和修补组,分析比较两组患儿术后常见并发症情况及随访资料.结果 最终入选499例患儿.介入组284例,男130例、女154例,中位年龄42.0(33.0～56.0)月;修补组215例,男100例、女115例,中位年龄40.0(30.0～60.0)月.两组之间术后1周内残余分流,主动脉瓣、二尖瓣和三尖瓣反流发生率的差异无统计学意义(P>0.05).修补组术后1周内新发心律失常、完全性及不完全性右束支传导阻滞的发生率均高于介入组,差异有统计学意义(P<0.05).至随访终点时间,两组患儿的残余分流、瓣膜反流及传导阻滞情况均明显改善,两组间差异均无统计学意义(P>0.05).结论 介入封堵和外科修补治疗儿童膜周部室间隔缺损同样有效,且介入治疗创伤小、并发症少,是一个不错的选择.