Whole exome sequencing analysis of 6 children with dilated cardiomyopathy北大核心CSCD

Objective To explore the mutational loci associated with the occurrence of dilated cardiomyopathy (DCM). Methods Six children with DCM and 3 healthy children were recruited through the " Children DCM Susceptibility Gene Research Project" for a prospective study from December 2019 to June 2021. Six patients were aged from 4 months to 14 years, including 5 girls and 1 boy. Three healthy children were aged between 3-13 years, including 2 girls and 1 boy. Whole exome sequencing was performed on the research subjects, and the pathogenic genes were identified by bioinformatics methods. At the same time, the venous blood of the first - degree relatives of the corresponding children was collected, and the region with gene mutations was subjected to next - generation sequencing. Results A total of 4 mutational loci that might be related to DCM were identified. Case 1 was found to have a c. 2011-3C > G mutation in the jounctophiilin - 2 (JPH2) gene. The c. 2011-3 C > G mutation was homozygous (GG) in the child, but heterozygous (CG) in the parents. This child also had a c. G49415A mutation in the titin (TTN) gene. This c. G49415A mutation was homozygous (AA) in the child, but heterozygous (GA) in the parents. Case 4 was found to have a c. G23033A mutation in the TTN gene. The c. G23033A mutation was heterozygous (GA) in both the subject and the father, but a wild type (GG) in the mother. Case 5 was found to have a c. 16975_16978del mutation in the TTN gene. The c. 16975_16978del mutation was heterozygous (TCTTC/T) in the child and the father, but a wild type (TCTTC/TCTTC) in the mother. Conclusions A total of 4 pathogenic gene loci related to the pathogenesis of DCM are identified in this study. The finding enriches the DCM disease gene spectrum and provides targets for the implementation of precision medicine. © 2022 ＣｈｉｎＪＡｐｐｌＣｌｉｎＰｅｄｉａｔ. All rights reserved.     

Changes of B cell - activating factor and a proliferation - inducing ligand in serum of children with Henoch -Schonlein purpura nephritis北大核心CSCD

Objective To investigate the changes of B cell - activating factor (BAFF) and a proliferation -inducing ligand (APRIL) in serum of children with Henoch - Schonlein purpura nephritis (HSPN), and to explore their role in the pathogenesis of children HSPN. Methods A total of 28 children with HSPN who were before treatment were selected in Department of Pediatrics Nephrology and Rheumatology,Shengjing Hospital of China Medical University from November 2017 to August 2018. Sixteen children with Henoch - Schonlein purpura were selected as HSP group, and 20 healthy children were selected as healthy control group. Followed the HSPN guideline to cure the patients for 6-8 weeks. The clinical data were collected. Serum levels of BAFF and APRIL were measured by adopting enzyme -linked immunosorbent assay (ELISA). Results (1) Changes of serum BAFF level: the serum levels of BAFF in HSPN children were significantly lower than those in the HSP group and the healthy control group [HSPN group (0. 652 ± 0.360) |jLg/L,HSP group (1.276 ±0.459) |jig/L, healthy control group (1. 285 ± 0. 299) |jLg/L, F = 17. 519,P = 0.000]. Moreover, the serum levels of BAFF in before treatment were significantly lower than those in after treatment [before treatment (0. 652 ± 0. 360) |JLg/L, after treatment (0. 860 ±0. 262) |JLg/L, P < 0. 05). However, there were no significant di-fferences in the serum levels of BAFF between HSP group and healthy control group (P >0.05). (2)Changes of serum APRIL level: the serum levels of APRIL in HSPN and HSP children were both significantly higher than those in healthy control group,but there were no marked differences between the 2 groups [HSPN group (2.285 ±1.015) |JLg/L, HSP group (2.609 ±1.264) |jig/L, healthy control group (1.677 ±0. 118) |JLg/L,F =3. 647,P =0. 016]. There were no significant differences in the serum levels of APRIL between before treatment and after treatment [before treatment (2. 285 ±1.015) |JLg/L, after treatment (2. 042 ± 0. 695) |Jig/L, P > 0. 05]. (3) Pearson correlation analysis results showed that the serum levels of BAFF were negatively correlated with 24 h urinary protein, urinary microalbumin, and urine red blood cell count (r = -0. 587, -0.608, -0.515,all P <0. 05). The serum levels of APRIL were positively correlated with serum IgA(r = 0. 588,P < 0. 05). Conclusions The level of serum BAFF decreased and APRIL increased in children with HSPN, which was related to the degree of renal involvement. It suggests that BAFF and APRIL may be related to the pathogenesis of HSPN in children. © 2019 Chinese Medical Journals Publishing House Co.Ltd. All rights reserved.     

小剂量肝素微量泵持续定时静脉注射治疗小儿原发性肾病综合征的临床研究

Objective To explore the efficacy and safety of low-dose heparin in the treament of children with primary nephrotic syndrome (PNS). Methods It was an open and comparative trial. Eightyeight children with PNS in the hypercoagulable state,on the basis of administrating with glucocorticosteroid,were administrated with low-dose heparin that infused by micro pump oriented to time ( group A). Eighty patients only treated with glucocorticosteroid were chosen as control (group B). Results Serum-albumin and activated partial thromboplastin time (APTT) increased,but fibrinogen (Fib) decreased after therapy in the group A,and they all showed significant differences (P ＜ 0. 01 ). Serum-albumin increased after therapy in the group B and there was significant difference (P＜0. 01 ). However,APTT and Fib in the group B showed no significant difference( P ＞ 0. 05 ) between post-treatment and pretherapy. Post-treatment serum-albumin and APTT in the group A were significantly higher than those in group B, and Fib was significantly lower than that in group B ( P ＜ 0. 01 ). The rate of urine protein remission in group A (82/88) was significantly higher than that in group B (63/80). Urine protein remission time and edema disappearance time were significantly shorter in group A than group B ( P ＜ 0. 01 ). APTT of group A at the peak concentration of heparin after therapy was significantly higher than that of pretherapy ( P ＜ 0. 01 ), and the ratio was 2. 38. However, there was no significant difference in APTT at the valley concentration of heparin between post-treatment and pretherapy ( P ＞ 0.05 ). Conclusion Low dose-heparin infused by micro pump oriented to time in the treatment of children with PNS has an obvious anticoagulative effect. It can improve the rate of urine protein remission and shorten edema disappearance time. Meanwhile it is safety ,requires no laboratory monitor and has few drug side effects,thus it deserves further clinical application.     

痉挛型脑性瘫痪患儿下肢H反射量化痉挛的初步研究

Objective To study the changes of H reflex and its dependability to estimate spasticity of lower limbs in spastic cerebral palsy children. Methods Twenty healthy children as control group and 20 spastic cerebral palsy children with spastic lower limbs in various degree as cerebral palsy group. They were all accepted H reflex examination of electromyogrophy in both lower limhs and CSS evaluation. We analyzed the relationship between the changes of H reflex latency and CSS scores. Results In cerebral palsy group,the average H reflex latency was (19.38 ±3.15)ms. Tbe average H reflex amplitude was (3.90 ± 3.15)μV and the average H/M was 34.86 ± 17.80. In control group,the average H reflex latency was (21.15 ± 2.05)ms,the average H reflex amplitude was (2.5 ± 1.46) μV, the average H/M was 13.68 ± 7.14. The latency of H reflex in cerebral palsy group was shorter than that in control group. H reflex amplitude and H/M in cerebral palsy group was higher than that in control group. Both H reflex amplitude and H/M to CSS score of cerebral palsy group were positive with correlation of r1 = 0.554(P1 = 0.011) and r21 = 0.893 (P2 < 0.001),H/M was more related with CSS score than H reflex amplitude.Its linear regression formula was y= -29.314+ 8.384x.Conclusion H reflex of legs in spastic cerebral palsy children was more active than that in contol group. H/M was a good marker to evaluate excitability of spinal neurons.     

痉挛型脑性瘫痪患儿下肢H反射量化痉挛的初步研究

Objective To study the changes of H reflex and its dependability to estimate spasticity of lower limbs in spastic cerebral palsy children. Methods Twenty healthy children as control group and 20 spastic cerebral palsy children with spastic lower limbs in various degree as cerebral palsy group. They were all accepted H reflex examination of electromyogrophy in both lower limhs and CSS evaluation. We analyzed the relationship between the changes of H reflex latency and CSS scores. Results In cerebral palsy group,the average H reflex latency was (19.38 ±3.15)ms. Tbe average H reflex amplitude was (3.90 ± 3.15)μV and the average H/M was 34.86 ± 17.80. In control group,the average H reflex latency was (21.15 ± 2.05)ms,the average H reflex amplitude was (2.5 ± 1.46) μV, the average H/M was 13.68 ± 7.14. The latency of H reflex in cerebral palsy group was shorter than that in control group. H reflex amplitude and H/M in cerebral palsy group was higher than that in control group. Both H reflex amplitude and H/M to CSS score of cerebral palsy group were positive with correlation of r1 = 0.554(P1 = 0.011) and r21 = 0.893 (P2 < 0.001),H/M was more related with CSS score than H reflex amplitude.Its linear regression formula was y= -29.314+ 8.384x.Conclusion H reflex of legs in spastic cerebral palsy children was more active than that in contol group. H/M was a good marker to evaluate excitability of spinal neurons.     

肺保护性通气策略在儿童急性呼吸窘迫综合征中的应用价值

Objective To assess the effect of lung protective ventilation on outcome of children with acute respiratory distress syndrome(ARDS).Methods Between January 1999 and December 2007,43 children with ARDS were enrolled from PICU of Shanghai Children's Medical Center and assigned to the protective-ventilation group(group A) or the conventional-ventilation group(group B).The patients in group A (from January 2004 to December 2007)received lower tidal volume(6～7 ml/kg) and high levels of positive end-expiratory pressure(PEEP),and optimal oxygenation was achieved by adjusting FiO2 and PEEP.The patients in group B(from January 1999 to December 2003) received relatively higher tidal volume(8～12 mL/kg) with lower PEEP(2～6 cm H2O),and optimal oxygenation was achieved by adjusting FiO2.Tidal volume,PEEP,arterial blood gas,mortality and the number of ventilator-free days were compared between the two groups.Results Since protective ventilation was adopted after 2004,tidal volume was significantly lower in group A[(7.09±1.66)ml/kg]as compared with that in group B[(9.82±2.31) ml/kg](P=0.001).PEEP was significantly higher in group A[(7.15±2.08) cm H2O]as compared with that of group B[(5.40 + 1.84) cm H2O](P=0.021).The mortality was 30.3% in group A and 60.0% in group B.The number of ventilator-free days were(10.88±8.84) d in group A and(8.40±10.86) d in group B.Although mortality was lower and number of ventilator-free days was greater in group A,no significant differences were found between the two groups(P＞0.05).Conclusion Lung protective ventilation may improve the outcome for pediatric patients with ARDS,however,larger trials are required before a definite conclusion can be reached.     

肺保护性通气策略在儿童急性呼吸窘迫综合征中的应用价值

Objective To assess the effect of lung protective ventilation on outcome of children with acute respiratory distress syndrome(ARDS).Methods Between January 1999 and December 2007,43 children with ARDS were enrolled from PICU of Shanghai Children's Medical Center and assigned to the protective-ventilation group(group A) or the conventional-ventilation group(group B).The patients in group A (from January 2004 to December 2007)received lower tidal volume(6～7 ml/kg) and high levels of positive end-expiratory pressure(PEEP),and optimal oxygenation was achieved by adjusting FiO2 and PEEP.The patients in group B(from January 1999 to December 2003) received relatively higher tidal volume(8～12 mL/kg) with lower PEEP(2～6 cm H2O),and optimal oxygenation was achieved by adjusting FiO2.Tidal volume,PEEP,arterial blood gas,mortality and the number of ventilator-free days were compared between the two groups.Results Since protective ventilation was adopted after 2004,tidal volume was significantly lower in group A[(7.09±1.66)ml/kg]as compared with that in group B[(9.82±2.31) ml/kg](P=0.001).PEEP was significantly higher in group A[(7.15±2.08) cm H2O]as compared with that of group B[(5.40 + 1.84) cm H2O](P=0.021).The mortality was 30.3% in group A and 60.0% in group B.The number of ventilator-free days were(10.88±8.84) d in group A and(8.40±10.86) d in group B.Although mortality was lower and number of ventilator-free days was greater in group A,no significant differences were found between the two groups(P＞0.05).Conclusion Lung protective ventilation may improve the outcome for pediatric patients with ARDS,however,larger trials are required before a definite conclusion can be reached.     

肺保护性通气策略在儿童急性呼吸窘迫综合征中的应用价值

Objective To assess the effect of lung protective ventilation on outcome of children with acute respiratory distress syndrome(ARDS).Methods Between January 1999 and December 2007,43 children with ARDS were enrolled from PICU of Shanghai Children's Medical Center and assigned to the protective-ventilation group(group A) or the conventional-ventilation group(group B).The patients in group A (from January 2004 to December 2007)received lower tidal volume(6～7 ml/kg) and high levels of positive end-expiratory pressure(PEEP),and optimal oxygenation was achieved by adjusting FiO2 and PEEP.The patients in group B(from January 1999 to December 2003) received relatively higher tidal volume(8～12 mL/kg) with lower PEEP(2～6 cm H2O),and optimal oxygenation was achieved by adjusting FiO2.Tidal volume,PEEP,arterial blood gas,mortality and the number of ventilator-free days were compared between the two groups.Results Since protective ventilation was adopted after 2004,tidal volume was significantly lower in group A[(7.09±1.66)ml/kg]as compared with that in group B[(9.82±2.31) ml/kg](P=0.001).PEEP was significantly higher in group A[(7.15±2.08) cm H2O]as compared with that of group B[(5.40 + 1.84) cm H2O](P=0.021).The mortality was 30.3% in group A and 60.0% in group B.The number of ventilator-free days were(10.88±8.84) d in group A and(8.40±10.86) d in group B.Although mortality was lower and number of ventilator-free days was greater in group A,no significant differences were found between the two groups(P＞0.05).Conclusion Lung protective ventilation may improve the outcome for pediatric patients with ARDS,however,larger trials are required before a definite conclusion can be reached.     

肺保护性通气策略在儿童急性呼吸窘迫综合征中的应用价值

Objective To assess the effect of lung protective ventilation on outcome of children with acute respiratory distress syndrome(ARDS).Methods Between January 1999 and December 2007,43 children with ARDS were enrolled from PICU of Shanghai Children's Medical Center and assigned to the protective-ventilation group(group A) or the conventional-ventilation group(group B).The patients in group A (from January 2004 to December 2007)received lower tidal volume(6～7 ml/kg) and high levels of positive end-expiratory pressure(PEEP),and optimal oxygenation was achieved by adjusting FiO2 and PEEP.The patients in group B(from January 1999 to December 2003) received relatively higher tidal volume(8～12 mL/kg) with lower PEEP(2～6 cm H2O),and optimal oxygenation was achieved by adjusting FiO2.Tidal volume,PEEP,arterial blood gas,mortality and the number of ventilator-free days were compared between the two groups.Results Since protective ventilation was adopted after 2004,tidal volume was significantly lower in group A[(7.09±1.66)ml/kg]as compared with that in group B[(9.82±2.31) ml/kg](P=0.001).PEEP was significantly higher in group A[(7.15±2.08) cm H2O]as compared with that of group B[(5.40 + 1.84) cm H2O](P=0.021).The mortality was 30.3% in group A and 60.0% in group B.The number of ventilator-free days were(10.88±8.84) d in group A and(8.40±10.86) d in group B.Although mortality was lower and number of ventilator-free days was greater in group A,no significant differences were found between the two groups(P＞0.05).Conclusion Lung protective ventilation may improve the outcome for pediatric patients with ARDS,however,larger trials are required before a definite conclusion can be reached.     

过敏性紫癜患儿血浆纤维蛋白原水平及基因多态性的研究

目的 探讨过敏性紫癜(HSP)患儿血浆纤维蛋白原水平及β纤维蛋白原基因FGB-455G/A、-148C/T、-448G/A基因多态性的相关性.方法 采集528例HSP患儿及180例健康儿童末梢血标本,应用PCR限制性片段长度多态性(FGB-RFLP)技术,检测FGB-455G/A、-148C/T、-448G/A基因型,并检测158例HSP患儿和100例健康儿童的血浆纤维蛋白原水平.结果 HSP患儿FGB-455G/A位点的GG型和-448G/A位点的GG型出现频率比健康儿童明显增高,差异有统计学意义(P ＜ 0.01).HSP患儿FGB-455G/A位点的G等位基因、-148C/T 位点的C等位基因、-448G/A位点的G等位基因出现频率较健康儿童明显增高,差异有统计学意义 (P ＜ 0.05).FGB-455G/A位点GG基因型发生HSP的相对危险性(OR)为2.39(95%CI,1.66 ～ 3.39);HSP患儿的血浆纤维蛋白原水平较健康儿童明显增高,差异有统计学意义(P ＜ 0.01);FGB-455G/A位点GG基因型HSP患儿的纤维蛋白原水平明显高于AG + AA基因型,差异有统计学意义(P ＜ 0.05).结论 HSP发病可能与β纤维蛋白原FGB-455G/A和-488A/G基因多态性及其水平相关;FGB-455A/G位点GG基因型可能是HSP的危险基因.     

儿童单纯性肥胖与纤维蛋白原及其Bβ-148C/T基因多态性的关系研究

探讨儿童单纯性肥胖与纤维蛋白原（Fg）及其Bβ-148C/T基因多态性的关系, 为儿童单纯性肥胖的防治提供理论依据。方法　选取2004年6月至2007年9月华北煤炭医学院附属医院单纯性肥胖儿童及正常对照组儿童各106例,抽取空腹静脉血5 mL,测定Fg水平和分子功能;采用聚合酶链反应及限制性酶切方法对Fg Bβ-148C/T位点的基因型进行测定。结果　单纯性肥胖儿童血浆Fg水平及分子功能明显高于健康对照组（ P < 0.05） , 儿童单纯性肥胖T等位基因频率明显高于健康对照组 （P < 0.05） ,而且儿童单纯性肥胖组CT与TT基因型个体的血浆Fg水平及Fg单体聚合速度（FMPV）明显高于CC基因型组（P < 0.05）。结论　儿童肥胖能引起血浆Fg水平增高,分子功能增强,FgBβ-148C/T基因多态性通过影响Fg水平及单体聚合速率可能为儿童单纯性肥胖的一个累效基因。     

儿童外伤性脑梗死与蛋白S基因多态性的关系

目的 探讨儿童外伤性脑梗死发生发展与蛋白S基因多态性的关系.方法 应用聚合酶链反应(PCR)和限制性酶切片段长度多态性(RFLP)技术对61例外伤性脑梗死患儿蛋白S基因A2148G多态性进行分析.结果 蛋白S基因型与等位基因频率分别为:GG基因型57.38%、GA基因型37.70%、AA基因型6.55%,G等位基因76.23%、A等位基因23.77%;外伤性脑梗死患儿GG基因型和G等位基因频率明显高于对照组,差异有统计学意义(P ＜ 0.05);蛋白S GG基因型发生外伤性脑梗死的相对危险高,OR值为3.14.结论 蛋白S GG基因型可能是儿童外伤性脑梗死的易感基因型.开展儿童外伤性脑梗死与蛋白S基因多态性关系的研究对于探讨儿童外伤性脑梗死的发病机制,寻找儿童外伤性脑梗死的保护基因和易感基因及预防和及时治疗儿童外伤性脑梗死有重要意义.     

川崎病冠状动脉损伤与纤维蛋白原Bβ-148C/T基因多态性的关系

目的：探讨纤维蛋白原Bβ-148C/T基因多态性与川崎病冠状动脉损伤的关系。方法：收集36例川崎病患儿与49例健康对照儿童的空腹静脉血,用辅助血浆纤维蛋白原活性测定系统测定纤维蛋白原水平和纤维蛋白原的分子功能;采用多聚酶链反应,限制性酶切方法对纤维蛋白原Bβ-148C/T位点的基因型进行测定。结果：川崎病儿童冠状动脉扩张组血浆纤维蛋白原水平明显高于非扩张组及健康对照组(P<0.01); 川崎病儿童冠状动脉扩张组T等位基因频率明显高于健康对照组及非扩张组 (P<0.01)。结论：纤维蛋白原β-148基因多态性及血浆纤维蛋白原水平与川崎病患儿冠状动脉扩张有相关性。［中国当代儿科杂志,2010,12（7）：518-520］     

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??Objective To study the change of plasma fibrinogen level and the molecular activity of fibrinogen in children with simple obesity. To explor the relationship between the simple obesity and fibrinogen B??-148C/T gene polymorphism in children and to provide basis for children's simple obesity prevention. Methods A total of 106 children with simple obesity and 106 normal weight children were selected in the Affiliated Hospital of North China Coal Medical College from June 2004 to September 2007.5 mL fast blood sample was taken from each patient. Plasma fibrinogen level and molecular reactivity were measured with Assist Plasm Fibrinogen Activity Assay System. Polymerize chain reaction and restriction enzyme digestion were used to detect the fibrinogen B??-148C/T gene polymorphism genes genotype. Results??The plasma fibrinogen level and the molecular activity of the children with simple obesity were significantly higher than that of the health control group ??P < 0.05??. The allele frequency in the children with simple obesity was higher than that of the health control group??P < 0.05??. The plasma fibrinogen level and the fibrin monomer polymerize velocity of theB??-148 TT+CT was higher than that of the CC type in the children with simple obesity. Conclusion??The simple obesity in children is associated with the high level and the strengthen molecular activity of fibrinogen. The fibrinogen B??-148C/T gene polymorphism may be an accumulative efficiency gene of children with simple obesity by influencing the level and the fibrinogen metamer polymerization velocity.     

热休克蛋白70-2和肿瘤坏死因子α基因多态性与儿童过敏性紫癜相关性研究

目的:观察热休克蛋白70-2（HSP70-2）和TNF-α基因多态性与儿童过敏性紫癜（HSP）的相关性。方法:纳入2008年9月至2009年5月在南京儿童医院诊断为HSP的患儿为HSP组,健康查体儿童为对照组。采用PCR-RFLP法检测两组HSP70-2 基因1267A/G和TNF-α基因-380G/A多态性,并分析其与HSP和肾损害的相关性。结果:HSP组纳入205例,对照组纳入53名。①HSP组和对照组HSP70-2基因1267位点GG基因型频率分别为22.9%和9.4%,差异有统计学意义（χ2=4.764,P<0.05）;非肾损害亚组和肾损害亚组AA、AG、GG基因型频率差异无统计学意义。②HSP组和对照组TNF-α基因-308位点AA基因型频率分别为8.3%和1.9%,差异有统计学意义（χ2=6.447,P<0.05）;A等位基因频率HSP组高于对照组（24.4％ vs 12.3%, χ2=7.241,P<0.05）;非肾损害亚组和肾损害亚组GG、GA、AA基因型和A等位基因频率差异均无统计学意义。结论:HSP70-2基因1267位点GG基因型、TNF-α基因-308位点AA基因型可能是HSP发病的遗传学易感因素,但与肾损害发展可能无明显相关性。     

重庆汉族儿童单核细胞趋化蛋白1基因多态性及表达水平与结核病易感性的关系

目的 分析趋化因子单核细胞趋化蛋白1(MCP-1)启动子区2518基因型频率和等位基因在重庆地区汉族儿童结核病中的分布特点,探讨MCP-1基因启动子区2518A/G多态性、血清MCP-1蛋白表达水平与结核病的相关关系.方法 研究对象为100例儿童结核病、100例成人结核病以及相应的200例健康对照.序列特异性引物PCR(PCR-SSP)技术检测MCP-1基因启动子区2518A/G多态性.ELISA方法测定相应不同基因型患者和对照血清MCP-1水平.结果 (1)总体结核病组2518位点G等位基因频率为58%,明显高于相应的健康对照组(36%)(P<0.01);(2)总体结核病组2518 GG基因型频率为65%,明显高于相应的健康对照组(27%)(P<0.01);(3)MCP-1基因启动子区2518位点GG基因型结核病患病危险性(OR=6,95%CI=3.3～11.0)高于AA基因型(OR=1.0,95%CI=0.243～1.554),且儿童GG基因型患病的危险性(OR=7,95%CI=3.0～16.6)高于成人GG基因型(OR=5.1,95%CI=2.2～12.0);(4)2518 GG基因型的MCP-1水平(124 μl/L)高于AA基因型(23.10 μg/L)和AG基因型(39.96 μg/L),三组比较差异有统计学意义(P<0.01).结核组高于正常组,儿童组高于成人组.结论 在中国重庆地区汉族人中,MCP-1-2518位GG基因型作为结核病可能的危险因素,在儿童结核病的发病中具有较成人更重要的意义.     

IL-13 基因+2044G/A 多态性与儿童哮喘风险和血清IL-13 水平的相关性研究

目的探讨IL-13基因+2044G/A多态性与儿童哮喘发病风险及哮喘儿童血清IL-13水平的关系。方法采用PCR-RFLP和ELISA方法,对90例支气管哮喘患儿(哮喘组)和82例健康儿童(对照组)IL-13基因+2044G/A多态性和血清IL-13水平进行检测,计算基因型、等位基因频率及其所对应的血清IL-13水平。结果哮喘组和对照组IL-13+2044G/A多态性3种基因型的分布差异有统计学意义(P0.001);与GG基因型比较,GA基因型儿童哮喘风险增加3.52倍(95%CI:1.82~6.82),AA基因哮喘风险增加3.71倍(95%CI:1.06~12.97)。哮喘组A等位基因频率为36.1%,高于对照组的18.3%,差异有统计学意义(P0.001)。与G等位基因比较,A等位基因携带儿童哮喘风险增加2.53倍(95%CI:1.53~4.16)。哮喘组患儿血清IL-13水平为151.82(134.33~166.68)ng/L,对照组为79.00(58.74~111.09)ng/L,两组差异有统计学意义(P0.001)。哮喘组GG、GA和AA基因型的血清IL-13水平均分别高于对照组,差异有统计学意义(P均0.01)。哮喘组GG、GA和AA 3种基因型之间血清IL-13水平的差异也有统计学意义(P0.01),其中GA和AA基因型血清IL-13水平高于GG基因型。结论 IL-13基因+2044G/A多态性与支气管哮喘儿童血清IL-13水平具有关联性,且A等位基因可能造成了哮喘儿童血清高IL-13水平,携带A等位基因的儿童哮喘风险增加。     

TNF-α-308G/A和IL-6-174G/C基因多态性与呼吸道合胞病毒毛细支气管炎的相关性

目的：探讨肿瘤坏死因子(TNF)-α-308G/A、白细胞介素(IL)-6-174G/C基因多态性与呼吸道合胞病毒((RSV) 毛细支气管炎易感性的关系。方法：应用聚合酶链反应 限制性酶切片段长度多态性技术（PCR-RFLP）检测150例RSV毛细支气管炎患儿(病例组)和120例正常对照儿童(对照组)TNF-α-308G/A和IL-6-174G/C的基因多态性。结果：①病例组TNF-α-308位点GG、GA、AA基因型频率分别为68.0%、28.0%、4.0%,G、A等位基因型频率分别为82.0%,18.0%;对照组TNF-α-308位点GG,GA,AA基因型频率分别为80.8%,19.2%,0,G、A等位基因型频率分别为90.4%,9.6%;两组基因型及等位基因频率差异有显著性意义,病例组A等位基因的频率明显高于对照组(χ2=5.665,7.726,均P＜0.05);与G等位基因携带者相比,A等位基因携带者患RSV毛细支气管炎的风险增加了2.071倍(OR=2.071, P＜0.05);②病例组和对照组IL-6-174G/C位点均只见GG基因型。结论：TNF-α-308A等位基因与RSV毛细支气管炎的易感性相关,其可能是影响RSV毛细支气管炎发病的一个重要候选基因;温州地区汉族儿童未发现IL-6-174G/C基因多态性。［中国当代儿科杂志,2009,11（10）：821-824］     

一氧化氮和内皮型一氧化氮合成酶与血管迷走性晕厥发病的关系

目的：探讨一氧化氮和内皮型一氧化氮合成酶与儿童血管迷走性晕厥发病的关系。方法：血管迷走性晕厥患儿14例（A组）,其他原因引起晕厥患儿10例（B组）,健康志愿者20例（C组）。于倾斜试验（HUT）前和倾斜不同时间测定A组与B组患儿的血浆一氧化氮（NO）水平,同时对3组儿童进行内皮型一氧化氮合成酶（eNOS）基因G894T多态性检测。结果：①A组患儿出现阳性反应时血浆NO水平较平卧时显著升高（76.7±9.6 vs 90.0±11.4 μmol/L, P<0.05）;②A组患儿在症状好转后血浆NO水平较试验前显著降低（82.7±9.2 vs 61.5±6.9 μmol/L,P<0.01）;③B组患儿倾斜时血浆NO水平较平卧时差异无显著性;④A,B两组患儿的血压、心率变化与NO水平无显著相关性;⑤A组患儿eNOS基因G894T突变型基因频率显著高于B组与C组(42.9% vs 10%, P<0.05)。结论： 倾斜体位时血浆NO水平异常升高可能参与了血浆血管迷走性晕厥的发病机制,而其升高水平可能与eNOS基因G894T多态性表达有关。     

脂联素基因SNP276多态性与儿童青少年肥胖的相关性研究

目的研究脂联素（APM1）基因SNP276 G/T多态性与儿童青少年单纯性肥胖及其代谢指标的相关性。方法以2004至2006年于复旦大学附属儿科医院内分泌门诊就诊的单纯性肥胖或超重儿童青少年分别作为肥胖组和超重组;选择某中学正常体重学生作为正常对照组。分别测量身高和体重,计算体重指数（BMI）。测定血清空腹葡萄糖（FPG）、空腹胰岛素(FIns)、三酰甘油(TG)和总胆固醇(TC)水平。计算胰岛素抵抗指数（HOMA-IR）和胰岛素敏感指数（QUICKI）。抽提外周血基因组DNA,采用Taqman-MGB探针技术检测APM1基因SNP276 G/T多态性,分析不同基因型与代谢指标和BMI间的关联性。 结果肥胖组纳入227例,超重组纳入231例,正常对照组纳入216名。①肥胖+超重组的BMI、FPG、FIns、TG和HOMA-IR均显著高于正常对照组。②基因分布频率符合Hardy-Weinberg平衡。③肥胖组、超重组和正常对照组的G等位基因频率分别为71.4％、72.5％和69.7％,GG基因型频率分别为50.2％、52.4％和45.8％,GT基因型频率分别为42.3％、40.3％和47.7％;各组差异均无统计学意义（P均>0.05）。 ④SNP276 GG、GT和TT基因型的BMI、FPG、FIns、TG、TC、HOMA-IR和QUICKI差异均无统计学意义（P＝0.49~0.99）。⑤肥胖+超重组IFG儿童青少年中GG+GT型有70例,TT型4例;正常对照组IFG儿童青少年中GG+GT型有10例,TT型0例;两组差异无统计学意义（P＝0.45）。结论APM1基因SNP276 G/T多态性与青少年儿童单纯性肥胖及其代谢指标间无显著关联性,提示该SNP位点可能存在种族特异性。