Background Kawasaki disease is a pediatric acute systemic vasculitis that specifically involves the coronary arteries. Timely initiation of immunoglobulin plus aspirin is necessary for diminishing the incidence of coronary artery abnormalities (CAAs). The optimal dose of aspirin, however, remains controversial. The trial aims to evaluate if low -dose aspirin is noninferior to moderate -dose in reducing the risk of CAAs during the initial treatment of Kawasaki disease. Methods This is a multi -center, prospective, randomized, open -label, blinded endpoint, noninferiority trial to be conducted in China. The planned study duration is from 2023 to 2026. Data will be analyzed according to intention -to -treat principles. Participants are children and adolescents under the age of 18 with Kawasaki disease, recruited from the inpatient units. A sample size of 1,346 participants will provide 80% power with a one-sided significance level of 0.025. Qualifying children will be randomized (1:1) to receive either intravenous immunoglobulin (2 g/kg) plus oral moderate -dose aspirin (30-50 mg kg -1 d -1 ) until the patient is afebrile for at least 48 hours, or immunoglobulin plus low -dose aspirin (3-5 mg kg -1 d -1 ) as initial treatment. The primary outcome will be the occurrence of CAAs at 8 weeks after immunoglobulin infusion. Independent blinded pediatric cardiologists will assess the primary endpoint using echocardiography. Conclusions There is a shortage of consensus on the dose of aspirin therapy for Kawasaki disease due to the lack of evidence. The results of our randomized trial will provide more concrete evidence for the efficacy and adverse events of lowor moderate -dose aspirin in the acute phase of Kawasaki disease.

Background: Ginsenoside Rc has been known for its promising protective effects against myocardial injury, including inflam-mation, apoptosis, oxidative stress, and related pathways. However, the underlying molecular mechanisms behind these effects still need to be explored. The purpose of this study was to explore the therapeutic effect of Ginsenoside Rc on acute myocardial infarction (MI) and the molecular mechanism behind it.Methods: MI mouse model and oxygen-glucose deprivation (OGD) cardiomyocyte injury model were established and Ginseno-side Rc was treated. Troponin I3 (TNNI3)/C-reactive protein (CRP) expression was altered by plasmid transfection or lentiviral vector injection. Myocardial histopathological changes were evaluated by hematoxylin-eosin (HE) staining and terminal de-oxynucleotidyl transferase-mediated dNTP nick end labeling (TUNEL) staining. The changes in inflammatory cytokines in cells and tissues were evaluated by enzyme-linked immunosorbent assay (ELISA). Commercial kits were used for the assessment of creatine kinase-MB (CK-MB) and lactic dehydrogenase (LDH). Western blot was used to analyze cleaved caspase-3 protein ex-pression in cells and tissues. The apoptosis rate of cardiomyocytes was measured by flow cytometry. The interaction between TNNI3 and CRP was detected by co-immunoprecipitation (CO-IP) assay.Results: TNNI3/CRP expression was abnormally high in MI, and Ginsenoside Rc decreased their relative expression (p < 0.05). Ginsenoside Rc administration reduced inflammation and apoptosis in MI mice and OGD-injured cardiomyocytes (p < 0.05). Ginsenoside Rc administration or TNNI3 knockdown improved the myocardial tissue injury in MI mice (p < 0.05). The thera-peutic effect of Ginsenoside Rc on myocardial injury in MI mice was weakened by overexpressing TNNI3 (p < 0.05). Similarly, its therapeutic effect on OGD cardiomyocyte injury was also weakened by enhancing TNNI3 and CRP (p < 0.05). TNNI3 and CRP also interacted in cardiomyocytes.Conclusions: Ginsenoside Rc improves MI-induced cardiomyocyte apoptosis and inflammation by inhibiting the TNNI3/CRP axis. The study shows that Ginsenoside Rc can serve as a potential drug for the future treatment of MI.

BACKGROUND:Laparoscopic splenectomy (LS), a treatment for both benign and malignant splenic diseases, can prove technically challenging in patients with massive splenomegaly. In particular, the optimal surgical modality for treating massive splenomegaly in children remains controversial. METHODS:The clinicopathologic data of 289 pediatric patients undergoing splenectomy for massive splenomegaly were studied in a retrospective analysis. Accordingly, the patients were classified into the LS surgery group and open splenectomy (OS) surgery group. In the laparoscopy cohort, they were separated into two subgroups according to the method of surgery: the multi-incision laparoscopic splenectomy (MILS) and the single-incision laparoscopic splenectomy (SILS) surgery groups, respectively. Patient demographics, clinical data, surgery, complications, and postoperative recovery underwent analysis. Concurrently, we compared the risk of adverse laparoscopic splenectomy outcomes utilizing univariable and multivariable logistic regression. RESULTS:The total operation time proved remarkably shorter in the OS group in contrast to the LS group (149.87 ± 61.44 versus 188.20 ± 52.51 min, P < 0.001). Relative to the OS group, the LS group exhibited lowered postoperative pain scores, bowel recovery time, and postoperative hospitalization time (P < 0.001). No remarkable difference existed in post-operation complications or mortality (P > 0.05). Nevertheless, the operation duration was remarkably longer in the SILS surgery group than in the MILS surgery group (200 ± 46.11 versus 171.39 ± 40.30 min, P = 0.02). Meanwhile, the operative duration of MILS and SILS displayed a remarkable positive association with splenic length. Moreover, the operative duration of SILS displayed a remarkable positive association with the age, weight, and height of the sick children. Splenic length proved an independent risk factor of adverse outcomes (P < 0.001, OR 1.378). CONCLUSIONS:For pediatric patients with massive splenomegaly who can tolerate prolonged anesthesia and operative procedures, LS surgery proves the optimal treatment regimen. SILS remains a novel surgery therapy which may be deemed a substitutional surgery approach for treating massive splenomegaly.

Background:Single-incision laparoscopic splenectomy (SILS) remains a challenging procedure because of the technical difficulty. In this prospective study, we aimed to evaluate the efficacy and safety of SILS in children with massive splenomegaly.Methods:Pediatric patients with massive splenomegaly were recruited for SILS in a university-affiliated hospital. The data on patient demographics, clinical features, operative variables, and perioperative outcomes were collected prospectively and analyzed. According to the different surgical instruments, the patients were randomly assigned into two groups: the SILS with straight surgical instrument (SILS-S) group and the SILS with curved surgical instrument (SILS-C) group. A two-group comparative analysis was conducted using perioperative data from the different surgical instrumentation systems.Results:A total of 120 patients were included, of which 103 patients (success group, 85.83%) had complete SILS, the other 17 (failure group, 14.17%) patients were converted to open (n = 4, 3.33%) or multi-incision laparoscopic surgery (n = 13, 10.83%). The major cause for surgical failure is uncontrollable bleeding (n = 14, 82.35%), and age, height, and weight were the risk factors for failure of SILS, but none of the parameters were independent risk factors. The blood loss in the success group was less than that in the failure group, but no significant differences in other operative and outcome indicators. For SILS, the mean (±SD) operative time was 188 (±48.70) minutes, the median intraoperative blood loss (min, max) was 20 (5, 290) ml, the mean (±SD) time of first anal exhaust was 23.9 (±7.73) hours, and the mean (±SD) postoperative hospital stay was 4.72 (±1.03) days. The median pain score was 3 on 1 day, and 1 on 3 days after the operation. Postoperative complications were identified in 8 (7.77%) cases. However, there were no peri-operative deaths in this series. The SILS-C group had a significantly shorter operation time than the SILS-S group (mean ± SD, 172 ± 44.21 vs. 205 ± 47.90 min). There were no significant differences between the two groups in other perioperative data (P < 0.05).Conclusion:SILS is a safe and feasible treatment in pediatric patients with massive splenomegaly, and curved surgical instrumentation has contributed to developing surgical manipulation.

BackgroundKawasaki disease (KD) is a medium vessel vasculitis, of unknown etiology, typically presenting in children younger than 5 years of age. Prolonged fever (at least five days) is a major clinical criterion of KD, while cardiac involvement may occur in up to 25% of patients, generally in the second week of the disease.Case presentationWe describe the case of KD developing in a 3-month infant, with an early occurrence of coronary artery aneurysm after only 3 days of fever, complicated by thrombosis, requiring aggressive treatments.ConclusionsTime of development of cardiac complications can be different in young infants with KD and both diagnostic criteria and treatment indications should be individualized in this class of age.

The function of circular RNAs (circRNAs) in gliomas is as yet unknown. The present study explored role of hsa circ 0076931 in glioma. circRNA expression profiles were identified via RNA-seq followed by qRT-PCR validation in three pairs of glioma and normal brain tissues (NBT). The function of hsa circ 0076931 was investigated in vitro using cell lines as well as in vivo using a xenograft tumor. Hsa circ 0076931 was up-regulated by overexpression and an mRNA profile compared with wild-type was identified by RNA-seq. The relationship between miR-6760-3p and hsa circ 0076931 or CCBE1 was confirmed via luciferase re-porter or AGO2-RIP assays. A total of 507 circRNAs were identified in glioma tissues that were differentially expressed compared with that in NBT, and the sequencing data were deposited in BioProject (ID: PRJNA746438). Hsa circ 0007694 and hsa circ 0008016 were memorably increased whereas hsa circ 0076931 and hsa circ 0076948 decreased in glioma compared with those in NBT. Additionally, hsa circ 0076931 expression was negatively cor-related with histological grade. Overexpression of hsa circ 0076931 inhibited proliferation, migration, and invasion while promoting apoptosis of glioma cells. A total of 4383 and 537 aberrantly expressed genes were identified between the hsa circ 0076931-overexpressed and control groups in H4 and U118-MG cells, respectively; the sequencing data were de-posited in BioProject (ID: PRJNA746438). These differentially expressed genes were mainly enriched in cancer-related pathways. In addition, elevated hsa circ 0076931 levels induced the expression of CCBE1 while suppressing miR-6760-3p expression. miR-6760-3p can bind to hsa circ 0076931. The experimental evidence supports using hsa circ 0076931 as a marker for glioma and to help prevent malignant progression. The mechanism might be relevant to miR-6760-3p and CCBE1.

Abstract Objective To investigate the clinical manifestations, laboratory data and coronary artery lesions of refractory Kawasaki disease, and to follow up the patients in the near to medium term. Methods Patients with refractory KD admitted to Guangzhou Women and Children's Medical Center between January 1, 2016 and December 31, 2020 were collected and their clinical data were retrospectively analyzed. Results A total of 42 patients were diagnosed with refractory KD, including 31 (73.81%) and 11 (26.19%) were male and female, respectively, with a median age of 26.7±19.3 (2-99) months. The average time, from onset to diagnosis and IVIG use, was 5.8±0.9 (4-12 ) days, while the fever lasted for 14.8±4.0 (8-34) days. A total of 29 patients exhibited coronary artery disease complications. All patients exhibited persistent or recurrent fever after two doses of IVIG therapy. A total of 41 patients were given a methylprednisolone regimen for up to three consecutive days as follows, while one patient continued to receive IVIG. The diameter of coronary arteries returned to normal 10 patients during the follow-up period, patients with medium and huge tumors exhibited shrunken diameter of coronary arteries, although they were not completely normal. Follow-up observations are still ongoing. Conclusion There is no unified diagnostic criteria and treatment plan for children with refractory KD. For patients that still experience fever after two IVIG treatments, clinicians need to consider the possibility of this type of KD. Development of an effective treatment plan is imperative to shortening fever time and prevention of progressive aggravation of coronary artery disease. Longer follow-up observation is also needed for this group of patients with coronary artery outcomes.

There have been no robust data from clinical trials to guide the clinician in the choice of therapeutic agents for the child with IVIG resistance, the treatment regimen for IVIG resistant patients varies between institutions, and the best option has not yet been established therefore. In this trial, a total of 955 patients with KD were selected and were initially treated with IVIG. (2g/kg), of whom 80 (8.38%) assessed as IVIG resistant were randomly divided into two groups: group A received second IVIG treatment (n = 40), group B received methylprednisolone pulse therapy (MPT, n = 40). The whole fever time, duration of fever after retreatment, hospital days, medical cost, readmission rate, and laboratory examination difference (△) were calculated. CALs outcomes were followed up over two years. Patients in MPT group had shorter fever after retreatment and lower medical costs, more rapid declines in CRP, N%, PLT levels, and more rapid rise in sodium, but had a higher incidence of treatment failure and CALs than the second IVIG treatment group in long-term follow-up. the MPT used to treat IVIG-resistant KD still need to be considered carefully.

Objectives: The study is performed to analyze the relationship between immune-related long non-coding RNAs (lncRNAs) and the prognosis of cervical cancer patients. We constructed a prognostic model and explored the immune characteristics of different risk groups.Methods: We downloaded the gene expression profiles and clinical data of 227 patients from The Cancer Genome Atlas database and extracted immune-related lncRNAs. Cox regression analysis was used to pick out the predictive lncRNAs. The risk score of each patient was calculated based on the expression level of lncRNAs and regression coefficient (β), and a prognostic model was constructed. The overall survival (OS) of different risk groups was analyzed and compared by the Kaplan–Meier method. To analyze the distribution of immune-related genes in each group, principal component analysis and Gene set enrichment analysis were carried out. Estimation of STromal and Immune cells in MAlignant Tumors using Expression data was performed to explore the immune microenvironment.Results: Patients were divided into training set and validation set. Five immune-related lncRNAs (H1FX-AS1, AL441992.1, USP30-AS1, AP001527.2, and AL031123.2) were selected for the construction of the prognostic model. Patients in the training set were divided into high-risk group with shorter OS and low-risk group with longer OS (p = 0.004); meanwhile, similar result were found in validation set (p = 0.013), combination set (p < 0.001) and patients with different tumor stages. This model was further confirmed in 56 cervical cancer tissues by Q-PCR. The distribution of immune-related genes was significantly different in each group. In addition, the immune score and the programmed death-ligand 1 expression of the low-risk group was higher.Conclusions: The prognostic model based on immune-related lncRNAs could predict the prognosis and immune status of cervical cancer patients which is conducive to clinical prognosis judgment and individual treatment.

Glioblastoma (GBM) is a highly malignant and aggressive primary brain tumor mostly prevalent in adults and is associated with a very poor prognosis. Moreover, only a few effective treatment regimens are available due to their rapid invasion of the brain parenchyma and resistance to conventional therapy. However, the fast development of cancer immunotherapy and the remarkable survival benefit from immunotherapy in several extracranial tumor types have recently paved the way for numerous interventional studies involving GBM patients. The recent success of checkpoint blockade therapy, targeting immunoinhibitory proteins such as programmed cell death protein-1 and/or cytotoxic T lymphocyte-associated antigen-4, has initiated a paradigm shift in clinical and preclinical investigations, and the use of immunotherapy for solid tumors, which would be a potential breakthrough in the field of drug therapy for the GBM treatment. However clinical trial showed limited benefits for GBM patients. The main reason is drug resistance. This review summarizes the clinical research progress of immune checkpoint molecules and inhibitors, introduces the current research status of immune checkpoint inhibitors in the field of GBM, analyzes the molecular resistance mechanism of checkpoint blockade therapy, proposes corresponding re-sensitive strategies, and describes a reference for the design and development of subsequent clinical studies on immunotherapy for GBM.

Indolent T-cell lymphoproliferative disease of the gastrointestinal tract (indolent GI T-LPD) is a benign neoplasm of CD4(+)or CD8(+)T cells that form primary tumors in the GI tract. Indolent GI T-LPD has recently been provisionally recognized as a distinct entity by the 2016 revision of the WHO classification of lymphoid neoplasms. Appropriate diagnosis of these cases is challenging as they may be misdiagnosed as T cell lymphoma that has an aggressive clinical course. Consequently, aggressive therapeutic approaches were usually chosen to treat these cases with no obvious benefit for most of the patients and potential side effects. Moreover, inflammatory diseases of the GI tract with similar symptoms may lead to misdiagnosis that leads to delays in administration of proper therapeutics against these cases. Therefore, it is of utmost importance to identify prognostic genetic biomarkers at the time of diagnosis for optimal medical care of these patients. TCR clonality analyses may not be useful for distinguishing these benign neoplasms from aggressive gastrointestinal T cell lymphomas; however, molecular genetic tests may prove useful as recurrentSTAT3-JAK2fusions, which may have diagnostic, prognostic or therapeutic value, have recently been identified. However, there is still lack of comprehensive information on the genetic and epigenetic factors associated with pathogenesis of indolent GI T-LPD. In this mini-review, we focus on the so far reported literature on indolent GI T-LPD cases, and discuss future directions for better differential diagnosis, risk stratification, and therapeutic target discovery with a special focus on the genetic and epigenetic alterations.

Objective To investigate the safety and efficacy of Warfarin combined with Aspirin in the treatment of multiple medium and giant coronary artery aneurysms in Kawasaki disease(KD).Methods Clinical and followup data of 45 children diagnosed with KD complicated with multiple medium-sized and giant coronary artery aneurysms from April 2014 to December 2018 at Guangzhou Women and Children's Medical Center were collected.These children were divided into 2 groups.A total of 31 cases received regular oral Warfarin combined with Aspirin called experimental group.There were 14 patients treated with oral Aspirin and Clopidogrel called control group.General information,laboratory examination,electrocardiogram,echocardiography,outcome and bleeding complications of the 2 groups were analyzed retrospectively.Results (1) In experimental group,there were 22 patients found thrombosis under echocardiography.The 10 patients' thrombosis disappeared,5 patients' thrombosis reduced,and 2 patients' increased after treatment.In control group,there were 5 cases found thrombosis.The 2 cases' thrombosis reduced and 3 cases' thrombosis increased.The number of thrombosis in experimental group was significantly reduced,and the number of new thrombosis was less than that in control group (x2 =6.454,P ＜ 0.05).(2) The number of coronary artery aneurysms in experimental group increased slowly than that in control group [12.90％ (4/31 cases) vs.14.28％ (2/14 cases)].(3) The number of coronary artery aneurysms in experimental group decreased rapidly than that in control group [23.91％ (11/46 cases)vs.10.00％ (1/10 cases)].(4) The number of cases of tumor retraction in experimental group was more than that in control group [74.19％ (23/31 cases)vs.42.85％ (6/14 cases)].(5) During the followed-up,there was no abnormality in the blood phosphokinase isozyme and troponin,no abnormality in the electrocardiogram and echocardiogram,no ventricular enlargement and abnormal ventricular wall movement,and the ejection fraction value was within the normal range.No active bleeding and no death occurred in the two groups.Conclusions Warfarin combined with Aspirin is very safe and effective in the treatment of KD coronary tumor,it can reduce thrombosis effectively.Compared with oral Aspirin and Clopidogrel,Warfarin combined with Aspirin can reduce the number of multiple medium sized and large coronary artery aneurysms and reduce the diameter of coronary artery aneurysms.

While semaphorins were initially identified as axonal guidance cues for wiring the neural network, it was then recognized their wide relevance in tissue development and homeostasis. Notably, semaphorin activities were also extensively studied in many types of solid tumors; however, their relevance in hematological malignancies is far from understood. In this mini-review, we surveyed the current knowledge about semaphorins and their receptors in leukemias, lymphomas, and multiple myeloma. Noteworthy, current data support a promoting role for Semaphorin 4D and Neuropilin-1 in these tumors, while Semaphorin 3A seems to consistently act as oncosuppressor in leukemias and multiple myeloma. The expression levels and functional activities of SEMA3B, SEMA3F, and Neuropilin-2 have furthermore been investigated in leukemias and lymphoma cells. Herein, we reviewed the state of the art and highlighted some of the open questions to be addressed in the field.

Objective To analyze the treatment and follow-up of congenital coronary artery fistula (CAF) with giant coronary artery aneurysm (GCAA) in children.Methods The clinical data were analyzed retrospectively in 13 patients who were diagnosed as congenital CAF with GCAA between July 2009 and December 2016 in Guangzhou Women and Children's Medical Center.There were 8 boys and 5 girls.The median age was 18 months,ranging from 40 days to 12 years old.The body weight ranged from 3.8 kg to 29.0 kg with a median of 8.8 kg.Fistulas originated from right coronary artery accounted in 8 patients,with 5 from left coronary artery.Fistulas drained into right atrium in 3 patients,right ventricular in 8 patients and left ventricular in 2 patients.Single fistula occurred in 12 patients and multiple fistulas in 1 patient.The diameter of coronary artery aneurysm ranged from 8 mm to 16 mm with a median of 9.2 mm.Results One patient had tachypnea and growth retardation without heart murmur.The other 12 patients were asymptomatic with heart murmurs occasionally found in routine physical examination.One patient underwent fistula ligation without cardiopulmonary bypass (CPB).The remaining 12 cases received fistula correction with beating heart CPB.Direct suture was used in 10 patients and autologous pericardial patch in other 2 patients.Two patients were associated with atrial septal defect (ASD) and underwent repair of ASD concurrently.The coronary artery aneurysm remained original shape without any intervention during the operation.The mean hospital delay was (11.0 ± 2.5) days.Two patients had decreased ejection fraction as low as 38％ within 3 days after the operation,but went up to over 50％ in follow-up 1 month later.Transient T wave change occurred in 7 patients,and another 2 patients showed a residual shunt with size of 1 to 2 millimeters through the fistula without further intervention after the surgical closure.All 13 patients had antiplatelet therapy with 12 taking Aspirin and one taking Dipyridamole.The dosage was 3-5 mg/(kg · d) with duration ranging from 3 days to 13 months with a median of 1 month.During the perioperative period and the follow-up period (3 months to 8 years),all patients were asymptomatically alive.Transthoracic echocardiography showed normal cardiac function.Compared with preoperative status,the diameter of dilated coronary arteries was not changed after the operation.There was no formation of thrombus in the coronary arteries.Electrocardiography showed no ST-T changes or arrhythmia or myocardial ischemia.Conclusions GCAA can be combined with congenital CAF in children,so it needs early operation.The evidence-based intervention of coronary artery aneurysm and usage of anticoagulant and antiplatelet therapy in pediatric patients was still lacking,which needs long-term follow-up.

Objective To summarize the clinical characteristics of pediatric hypertrophic cardiomyopathy and analyze its etiology for providing guidance for early identification,diagnosis and prognosis.Methods Fifty-two cases of pediatric hypertrophic cardiomyopathy admitted to Guangzhou Women and Children's Medical Center from January 2012 to June 2018 were retrospectively analyzed and summarized from the aspects of age,gender,family history,clinical features,auxiliary examination,etiology,drug efficacy and disease outcome.Results (1) There were 52 cases in this group including 36 males and 16 females.The ages of patients ranged from 15 days to 14 years (with mean age of 27.7 months,median 6.5 months).A total of 34 patients (65.4％) were followed up for 1-78 months (mean 30.6 months).Echocardiography showed 52 cases of left ventricular wall thickening (100％),21 cases of double ventricular hypertrophy (40.4％),18 cases of left ventricular outflow tract obstruction (34.6％),and 18 cases of hepatic enzyme elevation (34.6％).The etiology of 11 cases was clear (21.2％),including 7 cases of type Ⅱ glycogen accumulation,3 cases of Noonan syndrome and 1 case of primary carnation deficiency.No routine heart transplantation was performed at the end of follow-up,and 12 patients (35.3％) died,7 cases of whom died in infancy.Conclusions Children with hypertrophic cardiomyopathy have a relatively young age,so it is necessary to search for the etiology actively,carry out disease risk assessment,and conduct personalized management and treatment.

Introduction Warfarin therapy is recommended in children with giant coronary artery aneurysms (GCAAs) after Kawasaki disease (KD). Large individual variability makes it difficult to predict the warfarin dose. Polymorphisms in the vitamin K expoxide reductase 1 (VKORC1) and cytochrome P4502C9 (CYP2C9) genes have been reported to influence the warfarin dose. We investigated the effects of the VKORC1 and CYP2C9 genotypes on the warfarin dose in pediatric patients with giant CAAs after KD. We attempted to create a dosing algorithm. Materials and methods The clinical and genetic data of patients were documented. VKORC1 (rs 9923231) and CYP2C9 *3 (rs 1057910) were genotyped using TaqMan real-time polymerase chain reaction. A linear regression analysis was performed to evaluate the contribution of clinical and genetic factors to the warfarin maintenance dose. Results Forty-seven patients were enrolled. Patients with the CT or CC genotype of VKORC1 had a relatively higher warfarin dose than did those with the TT genotype (p < 0.05). Three patients with CYP2C9*1/*3 had a lower warfarin dose than did those with the wild CYP2C9*1/*1 genotype, but the difference did not reach significance (p > 0.05). Weight and the VKORC1 genotype predominantly contributed to the warfarin dose, with 33.0% and 11.2% of variability, respectively. The observed warfarin dose was correlated with the predicted dose based on the algorithm used in our study (r = 0.45, p < 0.01). Conclusions Weight and the VKORC1 genotype primarily determined the warfarin dose in Chinese pediatric patients with KD. Further studies are warranted to verify the findings of our study.

目的:探讨中国汉族人群中药物基因CYP4F2和CYP3A4基因多态性的分布情况.方法:收集2015年5月至2016年5月在广州市妇女儿童医疗中心就诊的汉族儿童1311例为研究对象,其中男855例、女456例,包括川崎病694例、非川崎病617例.收集外周静脉血进行CYP4F2 rs2108622、CYP3A4 rs2242480基因PCR扩增和序列分析.采用Hardy-Weinberg平衡进行总体样本的等位基因分布频率检测.分析性别与上述基因的基因型分布的关系;按疾病类型进行分组,分析疾病类型与上述基因的基因型和等位基因分布的关系.结果:纳入本研究的汉族儿童1311例,基因检测显示CYP4F2 rs2108622的CC、CT、TT基因型频率分别为59.57％(n=781)、35.39％(n=464)和5.04％(n=66),其中最小T等位基因频率为22.7％;CYP3A4 rs2242480的CC、CT、TT基因型频率分别为51.26％(n=672)、40.43％(n=530)和8.31％(n=109),其中最小T等位基因频率为28.5％..按性别分组,上述基因的基因型分布组间比较差异均无统计学意义(均P>0.05).按疾病类型分为川崎病组(n=694)和对照组(n=617),川崎病组与对照组CYP3A4 rs2242480基因型分布差异有统计学意义(P<0.05),而等位基因分布差异无统计学意义(P>0.05);川崎病组与对照组CYP4F2 rs2108622基因型及等位基因分布差异均无统计学意义(均P>0.05).结论:中国汉族儿童华法林药物基因CYP4F2 rs2108622以野生型为主,而CYP3A4 rs2242480以变异型为主,包括纯合变异和杂合变异.

目的 探讨小儿缩窄性心包炎的临床及病理学特征。 方法 对广州医科大学附属广州市妇女儿童医疗中心2003年1月至2015年12月诊断为缩窄性心包炎患儿的临床资料及病理学检查结果进行回顾性分析。 结果 缩窄性心包炎患儿共15例，年龄1岁4个月～14岁，平均6岁。病程2周～36个月。临床表现主要有腹胀(11例)、水肿(9例)、气促(7例)、腹痛(7例)、乏力(5例)、咳嗽(3例)、尿少(1例)等。心脏彩超检查提示双心房扩大7例，三尖瓣反流6例，二尖瓣反流5例，心包膜增厚4例，下腔静脉增宽3例，右心房内实质性占位性病变1例；心脏CT发现心包增厚10例，心包钙化4例。经外科手术治疗10例，手术方式为心包剥脱术，1例曾因疑诊缩窄性心包炎行心包开窗术。10例手术患儿总住院时间11～57 d，平均29 d；术后重症监护病房住院时间3～10 d，平均5.5 d；术后恢复顺利，无死亡病例。术后心包病理学检查结果均为非特异性炎症，表现为纤维结缔组织增生、玻璃样变、小血管增生、淤血及出血、纤维素渗出或沉积、淋巴细胞或中性粒细胞浸润及钙化灶。随访1～2年，除1例因复发再次手术，其余患儿心功能均改善，临床症状消失，生长发育恢复正常。 结论 小儿缩窄性心包炎临床症状不典型，超声心动图检查阳性率低，心脏CT诊断符合率高，病理学多为非特异性炎症，心包剥脱术是主要治疗手段，对于疑诊病例，心包开窗术不失为一种可取的过渡性治疗。

目的 评估VKORC1基因多态性对川崎病(KD)患儿华法林稳定剂量的影响.方法 对临床诊断KD巨大冠状动脉瘤(GCAA)、口服稳定剂量华法林≥2个月,同时期INR稳定在2.0～2.5≥2个月的患儿在华法林使用前或后行CYP2C9?2(rs1799853)、CYP2C9?3(rs1057910)和VKORC1(rs9923231)基因多态性检测,评估VKORC1基因多态性、调整华法林剂量时的年龄、体重、身高、体表面积与华法林稳定剂量的相关性.评估KD患儿华法林稳定剂量的主要影响因素,随访观察应用华法林后出现的不良反应.结果 42例进入本文分析,其中男35例,女7例,年龄为0.5～6.7岁,稳定华法林剂量为(1.47±0.45)mg·d-1,经体重矫正后稳定华法林剂量为(0.11±0.033)mg·kg-1·d-1.VKORC1 CT型6例、TT型36例,经体重矫正后华法林稳定剂量分别为(0.16±0.043)、(0.10±0.021)mg·kg-1·d-1,差异有统计学意义(P<0.05).检测基因之后用药比检测之前用药达稳态时间缩短(P<0.05).多元回归分析显示,经体重矫正华法林稳态剂量(mg·kg-1·d-1)=0.039+0.061×VKORC1 rs9923231基因型(1 if TT,2 if CT),R2为43.8％,华法林VKORC1 rs9923231基因型可解释6个月至7岁KD患儿华法林稳定剂量个体差异的43.8％.未经体重矫正华法林稳态剂量(mg·d-1)=-0.407+0.088×体重+0.580×VKORC1 rs9923231基因型(1if TT,2 if CT),体重和VKORC1 rs9923231基因型的R2分别为43.7％和19.5％,根据最佳回归模型得到的华法林稳定剂量预测公式可解释6个月至7岁川崎病儿童华法林稳定剂量个体差异的63.2％,其中VKORC1基因多态性、体重的贡献分别是19.5％和43.7％.因能解释更多华法林稳态剂量的个体差异,未经体重矫正华法林稳态剂量预测公式优于经体重矫正稳态剂量预测公式.结论 VKORC1 rs9923231基因型是影响6个月至7岁KD并发CAA患儿华法林稳定剂量的遗传因素之一,体重是华法林稳定剂量的主要影响因素.对于常规剂量INR易超标伴出血或不能达到目标INR的患儿,药物基因筛查有助于快速、有效指导用药,减少出血的并发症.

Objective To summarize the clinical characteristics,imaging characteristics,treatment and progno-sis of unilateral pulmonary vein atresia (UPVA)in children and to improve the clinician′ s understanding of this disease. Methods The clinical data of 4 cases of UPVA from January 2014 to December 2016 in Department of Cardiology,Guangzhou Women and Children′s Medical Center were retrospectively analyzed,and 50 cases from reviews of PubMed,OVID and Elsevier in the international medical literature database and 4 cases in Wanfang database for the domestic report were reviewed. The clinical characteristics,diagnosis,treatment and prognosis of total of 58 cases were analyzed. Results Four patients,with an average age of 1. 8 years (1. 5 - 2. 7 years),showing congenital UPVA in 3 patients and secondary UPVA in 1 patient. There was 1 case of left upper pulmonary vein atresia,2 cases of left pulmo-nary vein atresia and 1 case of right pulmonary vein atresia. Three cases showed recurrent hemoptysis and recurrent cough occurred in 1 case. Three cases were complicated with congenital heart disease. There was one case underwent bronchial artery embolization,1 case received pulmonary vein left atrium connection,and 2 cases received conservative treatment. All patients had been followed up for 1 - 3 years so far. The patient receiving pulmonary vein left atrium had been completely cured,and the patient receiving bronchial artery embolization showed no occurrence of hemoptysis but still showed recurrent cough hemoptysis. The patient with secondary UPVA had no obvious clinical symptoms,the other 1 case who rejected operation and received conservative treatment still had recurrent pulmonary infection,intermittent hemoptysis. The average age of 54 cases(40 cases with age ≤18 years old)from the literature reports was 13. 76 years (8 days - 43 years)in which 52 cases were diagnosed as congenital UPVA,while 2 cases were secondary UPVA. Twenty - seven cases were right pulmonary vein atresia,22 cases were left pulmonary vein atresia,and 5 cases were other types. There were 94. 4％(51 / 54 cases)of the patients having recurrent cough,pulmonary infection,92. 6％(50 /54 cases)of the patients with exertional dyspnea and polypnea,68. 5％(37 / 54 cases)of the patients with hemoptysis and hematemesis. There were 50. 0％(27 / 54 cases)of UPVA patients who were complicated with heart malformation. Different degrees of pulmonary hypertension were observed in 75. 9％(41 / 54 cases)of children,and 35. 2％(19 / 54 cases)of patients had pulmonary lymphatic dilatation. Pulmonary resection was performed in 25 cases,pulmonary vein left atrium connection was performed in 11 cases,bronchial artery embolization was performed in 7 cases,and conserva-tive treatment was performed in 11 cases. After operation,most of the patients had good prognosis without obvious clini-cal symptoms or mild symptoms. Conclusions In clinical practice,if unexplained hemoptysis,recurrent lower respira-tory tract infection,pulmonary consolidation,pulmonary dysplasia or pulmonary hypertension present,the possibility of UPVA should be considered. Early diagnosis and early bronchial artery embolization,reconstruction of the pulmonary vein and atrial connection and repair of the defect of heart,can improve the symptoms or cure the children and reduce the morta-lity significantly.