冠心病家族史儿童脂质三角的研究

目的：了解有冠心病(CHD)家族史儿童脂质三角［低密度脂蛋白-胆固醇(LDL-C),高密度脂蛋白-胆固醇(HDL-C)和甘油三脂(TG)］有无异常。方法：对83例有冠心病家族史的儿童检测血浆TG,LDL-C和HDL-C浓度,计算LDL-C/HDL-C,以无CHD家族史的健康儿童作为对照。结果：与对照组比较,有CHD家族史的儿童血TG,LDL-C浓度明显增高［(1.46±0.63) mmol/L vs (0.84±0.43) mmol/L,(2.09±1.13) mmol/L vs (0.96±0.87) mmol/L］,HDL-C水平降低［(1.48±0.48) mmol/L vs (1.72±0.53) mmol/L］,LDL-C/HDL-C升高(1.71±1.29 vs 0.96±0.68)(P1.7 mmol/L及LDL-C/HDL-C>2.5的发生率明显增高(20.5% vs 1.2%)(P均0.05)。有早发CHD家族史的儿童血TG,LDL-C水平［(1.86±0.63),(3.12±1.32) mmol/L］高于无早发CHD家族史儿童［(1.34±0.58),(1.79±0.87) mmol/L］及对照组［(0.84±0.43),(0.96±0.87) mmol/L］。有早发CHD家族史者LDL-C/HDL-C(2.85±1.21)高于无早发家族史组(1.37±1.11)和对照组(0.96±0.68)(P均<0.01),HDL-C水平［(1.11±0.26) mmol/L］低于无早发家族史者［(1.59±0.47) mmol/L］和对照组［(1.72±0.53) mmol/L］。脂质三角异常发生率(52.6%)高于无早发家族史组(10.9%)和对照组(1.2%)(P<0.01)。结论：有CHD家族史的儿童存在脂质三角异常,以有早发CHD家族史儿童明显。提示儿童期脂质三角异常与CHD家族史关系密切,有CHD家族史儿童成年后发生CHD的危险性显著增高。     

载脂蛋白E基因多态性对儿童血脂的影响

目的：　研究载脂蛋白E(APOE)基因多态性是否影响了中国学龄儿童的血脂水平。方法：　检测214名本地的两所小学四年级和五年级儿童的血脂,其中男116名,女98名,年龄8～12岁。用多聚酶链反应检测APOE基因型。结果：　APOE的基因型分布为E3/ 3148例 (6 9.2 %) ,E4/ 34 1例 (19.1% ) ,E2 / 32 0例 (9.3% ) ,E4/ 45例 (2 .4% ) ,E 2/4和E2/ 2未检测到;血清总胆固醇和低密度脂蛋白胆固醇及载脂蛋白B按E4>E3>E2的顺序减低,且有统计学意义(P<0.05),高密度脂蛋白胆固醇和载脂蛋白A1,甘油三酯则按上述顺序升高,但均无统计学意义 (P>0.05)。结论：　APOE基因多态性对血脂的影响在中国汉族学龄儿童中存在。     

肥胖儿童载脂蛋白E基因多态性的研究

目的 探讨单纯性肥胖儿童载脂蛋白Ｅ（ＡｏｐＥ）基因多态性的分布及其对血脂、脂蛋白、载脂蛋白的影响。方法 采用改良的聚合酶链式反应－限制性片段长度多态性方法分析肥胖及健康儿童ＡｐｏＥ基因型。结果 肥胖儿童Ａｐｏε４等位基因频率（０．１２２９）较健康儿童（０．０６１８）增高（Ｐ〈０．０５）。ＡｐｏＥ基因多态性影响健康儿童的血脂水平。在单纯性肥胖儿童,ε２,ε３,ε４等位基因携带者的血甘油三酯（ＴＧ）、     

载脂蛋白E基因多态性对新生儿血脂水平的影响

本文检测了４４例足月新生儿脐血血脂水平，并应用ＰＣＲ方法检测了载脂蛋白Ｅ（ａｐｏＥ）基因多态性，结果发现，新生儿ａｐｏＥ基因表型Ｅ３／２，Ｅ３／３，Ｅ４／３频率分别为０．０９１，０．７２７，０．１８２，等位基因ε２，ε３，ε４频率分别为０．０４５，０．８６４，０．０９１，ａｐｏＥ表型间各血脂水平虽无统计学差异，但血清ＴＣ，ＬＤＬ－ｃ，ａｐｏＢ及ａｐｏＢ／Ａ１水平按Ｅ３／２，Ｅ３／３，Ｅ４／３顺序逐     

儿童原发性肾病综合征载脂蛋白E 基因检测及临床意义

目的　研究原发性肾病综合征 (INS)患儿血浆载脂蛋白E(ApoE)基因多态性分布及对血脂代谢的影响。方法　选择 2 0 0 0年 1月至 2 0 0 3年 9月潍坊市人民医院收治的 5 2例INS患儿 ,并选择 6 9名健康儿童作为对照组 ,测定其血清胆固醇 (TC)、甘油三酯 (TG)、高密度脂蛋白 (HDL)、低密度脂蛋白 (LDL)、载脂蛋白AI及载脂蛋白B10 0 (ApoAI,ApoB10 0 )水平 ,用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)检测ApoE基因型。结果　与对照组相比 ,INS患儿血清TC、TG、LDL、HDL、ApoAI和ApoB10 0水平增高 (P <0 0 1) ;其Apoε等位基因频率分布不均 ,ε2、ε3、ε4等位基因携带者的TC、TG、ApoB10 0水平差异有显著性意义 (P <0 0 5 )。与ε3等位基因携带者相比 ,ε2携带者TG水平较高 ,LDL水平较低 (P <0 0 5 ) ;ε4携带者TC水平较高 ,TG水平较低 (P <0 0 5 )。ε2、ε3、ε4等位基因与TC、LDL浓度呈正相关 (P <0 0 5 )。难治性肾病综合征 (RNS)患儿Apoε2等位基因频率较对照组显著增高 (P <0 0 5 )。结论　INS患儿Apoε等位基因频率分布与对照组无差异 ,RNS患儿Apoε2等位基因频率显著增高 ,脂质代谢紊乱持续存在 ,易发生肾脏损害 ,应及早加用降血脂药物治疗。     

健康儿童载脂蛋白E遗传表型测定与血脂水平的关系

目的：探讨健康儿童载脂蛋白E(ApoE)遗传表型分布、等位基因频率分布及ApoE遗传多态性对血脂水平的影响。方法：90例健康儿童禁食12h,采静脉血。采用等电聚焦电泳法测定ApoE遗传表型并推断出其基因型,氧化酶法测定血清胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C),免疫比浊法测定载脂蛋白B(ApoB)、载脂蛋白A I (ApoA I)。结果：健康儿童ApoE等位基因频率的分布按Apoe2,Apoe3和Apoe4顺序依次为 5.55%,86.66%,7.77%。Apoe3等位基因频率最高,Apoe4及Apoe2等位基因频率低。与ApoE3/3表型相比,ApoE4/3表型血TC和LDL-C显著增高(均P<0.05)。ApoE2/3表型血TC和LDL-C平均水平有降低趋势,但未见统计学意义。血TG,HDL-C,ApoB,ApoA I在三组间无显著差异。结论：ApoE遗传多态性对健康儿童血脂水平有影响。Apoe4等位基因可能是高胆固醇血症的遗传易患因子。对健康儿童进行ApoE基因型检测,早期发现冠心病(CHD)高危人群,及时进行干预治疗,具有重要的临床意义。     

单纯性肥胖儿童外周血单核细胞载脂蛋白E基因的表达

目的　探讨单纯性肥胖儿童外周血单核细胞载脂蛋白E基因表达及其与血脂、脂蛋白、载脂蛋白的相关关系。方法　采用竞争性逆转录 聚合酶链式反应方法分析 3 2例单纯性肥胖儿童和 3 2例正常健康儿童外周血单核细胞的载脂蛋白E基因表达。结果　载脂蛋白E基因能在儿童外周血单核细胞表达 ,与健康儿童比较 ,单纯性肥胖儿童外周血单核细胞载脂蛋白E基因表达水平显著下调 (P <0 0 1) ,重度肥胖儿童尤其明显 ,载脂蛋白E基因表达水平与肥胖度呈负相关 (P <0 0 5)。肥胖儿童存在明显的血脂代谢紊乱 ,载脂蛋白E基因表达水平与低密度脂蛋白 胆固醇呈负相关 ,与血载脂蛋白E浓度呈正相关 (P <0 0 5) ,与血总胆固醇、甘油三酯、高密度脂蛋白 胆固醇、脂蛋白 (a)、载脂蛋白AⅠ水平无明显相关 (P >0 0 5)。结论　单纯性肥胖儿童外周血单核细胞载脂蛋白E基因表达水平明显下调 ,并与肥胖程度及血脂代谢异常相关联 ,提示载脂蛋白E基因表达变化可能与肥胖的发生发展及肥胖的心血管病变相关联     

载脂蛋白E基因多态性与原发性肾病综合征脂质代谢紊乱的关系

目的研究原发性肾病综合征(PNS)患儿载脂蛋白E(apoE)主要等位基因和基因型的分布规律,探讨apoE基因多态性与PNS脂质代谢紊乱的关系。方法检测PNS患儿46例和正常小儿39例血清总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、apoA1、apoB和apoA1/B,同时用聚合酶链反应-单链构象多态性(PCR-SSCP)结合测序的方法确定apoE基因型,并根据平衡法计算出各等位基因频率。结果1.肾病组TC、TG、HDL-C、LDL-C、apoB、apoA1/B均明显高于对照组(P均<0.01);2.肾病组apoE2/2频率显著高于对照组(χ2=4.50 P<0.05);3.肾病组不同基因型和等位基因各项血脂指标均未见明显差异。结论PNS患儿存在明显脂质代谢紊乱,apoE2/2频率显著增高,apoE基因多态性对PNS患儿血脂水平未见明显影响。     

肥胖儿童脂代谢及血压与ACE基因多态性的临床研究

目的 探讨血管紧张素转换酶(ACE)基因第16内含子的插入/缺失(I/D)多态性和D等位基因频率在健康及单纯型肥胖儿童中的分布及ACE基因多态性对肥胖儿童的血压、脂质代谢及体脂分布的影响.方法 常规酚一氯仿法抽提基因组DNA,用聚合酶链式反应一限制性片断长度多态性(PCR-RFLP)琼脂糖凝胶电泳法分析105例单纯性肥胖儿童及98例健康儿童ACE基因的基因型及等位基因频率并测定两组儿童血清三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDLC)、低密度脂蛋白胆固醇(LDLC)浓度,并测定两组儿童血压、身高和体质量,按公式计算其体质指数(BMI).结果 检出3种ACE基因第16内含子的基因型D/D、D/I、I/I.与健康儿童相比,单纯性肥胖儿童具有较高的D/D基因型频率(27.5%)及D等位基因频率(43.75%).D/D型儿童与D/I型和I/I型儿童相比具有较高水平血TG、TC、LDL-C及收缩压、舒张压、BMI和较低水平的血HDL-C.结论 健康及单纯性肥胖儿童ACE基因存在多态性,且ACE基因多态性对健康儿童及肥胖儿童的血脂代谢、体脂分布及血压均有影响.     

Carbohydrate intake, serum lipids and apolipoprotein E phenotype show association in children

Aim:  To study the association between carbohydrate intake and serum lipids in children, and influence of apolipoprotein E phenotype (apoE) on the association.
Subjects/methods:  A total of 644 children from a prospective, randomized atherosclerosis prevention trial (STRIP) participated in this longitudinal study at age 5 (n = 644), 7 (n = 585) and 9 (n = 550) years. ApoE phenotype, fasting triglyceride, total, low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol concentrations and 4-day food records were analysed.
Results:  An increase in the total carbohydrate intake by 1 E% (percentage of total daily energy intake) associated with a decrease in HDL cholesterol by 0.006 mmol/L (p < 0.001) when adjusted for saturated, monounsaturated and polyunsaturated fatty acid, age, gender, body mass index and STRIP study group. The inverse association between total carbohydrate intake and HDL cholesterol was evident in children with apoE3 (p < 0.001) or apoE4 (p < 0.001), but not in those with apoE2 (p = 0.78). An increase in total carbohydrate intake by 1 E% increased triglycerides by 0.02 mmol/L (p < 0.001) independently of apoE phenotype, while 1 E% increase in sucrose intake increased triglycerides by 0.01 mmol/L (p < 0.001).
Conclusion:  Carbohydrate intake has a relatively small effect on serum lipids in children. Children with the apoE3 or E4 but not with E2 phenotype show reduction in HDL cholesterol with increasing carbohydrate intake indicating that genetic and environmental factors interact with children's lipoprotein metabolism.     

Visibility of the origin and proximal course of coronary arteries on non-ECG-gated heart CT in patients with congenital heart disease

Background: There is little information on the ability of non-ECG-gated cardiac CT to demonstrate the coronary arteries of children. Objective: To evaluate the visibility of the origin and proximal course of coronary arteries on non-ECG-gated cardiac CT, in which the coronary artery was not of primary diagnostic concern, in children with congenital heart disease. Materials and methods: From December 2002 to March 2004, 126 cardiac CT examinations from 104 children (median age 11 months; age range 1 day to 15 years) were evaluated. All patients had ventriculo-arterial concordance and no malformations of the great arteries; those with coronary artery anomalies were excluded. Contrast-enhanced 16-slice spiral CT was performed without ECG-gating and multiplanar images for coronary arteries were obtained. The visibility of coronary artery origins was graded on a three-point scale, while nine segments of the arteries were graded on a four-point scale. CT images in which it was possible to trace the coronary arteries were considered diagnostic. The visibility of each whole coronary artery and the origins and proximal four segments of coronary arteries were calculated. The visibility of coronary arteries was also correlated with patient age. Results: The percentage of CT images of diagnostic quality was 49.3% for the whole coronary artery and 81.7% for the origins and proximal four segments. There was a significant positive correlation between the visibility of coronary arteries and age. Conclusions: Non-ECG-gated cardiac CT, in which the coronary artery is not of primary diagnostic concern, is frequently able to visualize the origin and proximal course of coronary arteries and may be helpful in detecting coronary artery anomalies in children with congenital heart disease.     

前列地尔对先天性心脏病合并重度肺动脉高压的治疗作用

目的观察前列地尔脂微球载体制剂(LipoPGE1,商品名:凯时)对高肺血流性先天性心脏病(先心病)患儿的肺循环和体循环压力及阻力的影响作用。方法将50例先心病合并重度肺动脉高压的患儿随机设为治疗组(25例),于右心导管检查术中直接静脉推注凯时及对照组(25例),推注立其丁,观察肺动脉(PA)、主动脉(AO)、肺毛细血管(PW)压力,以及肺循环阻力、体循环阻力和心率的改变。结果凯时能有效降低PA压力(P<0.001),对AO压力和心率影响不明显;而立其丁在降低PA压力的同时,也使AO压力下降,并明显加快心率(P均<0.001)。结论对于先心病合并肺动脉高压的患儿,凯时可能是一种比较理想的选择性降低PA压力的制剂。     

心率及血压变异系数对可疑直立不耐受患儿快速识别的临床价值

目的探讨心率及血压变异系数在可疑直立不耐受(OI)患儿快速识别中的临床应用价值。方法回顾性研究。选取2015年1月至2020年1月山东大学齐鲁医院儿科诊治的379例因OI症状入院患儿为病例组;选取20名无晕厥及晕厥先兆症状的门诊健康查体儿童为无症状对照组。病例组根据直立试验及直立倾斜试验(HUTT)结果分为HUTT阴性组、血管迷走性晕厥(VVS)组、体位性心动过速综合征(POTS)组、POTS合并VVS组。分析所有入组儿童试验过程中的血压及心率数据, 分别计算各组研究对象卧立位及卧立倾斜位收缩压变异系数(SBPCV)、舒张压变异系数(DBPCV)及心率变异系数(HRCV)。5组研究对象各项指标的组间比较采用Kruskal-Wallis检验, 组间两两比较采用Dunnett′s T3法;5组内卧立位与卧立倾斜位变异系数比较采用配对样本t检验。通过受试者工作特征(ROC)曲线对卧立位心率及血压变异系数的预测价值进行评估。结果 379例患儿中, HUTT阴性组79例、VVS组208例、POTS组52例、POTS合并VVS组40例, 无症状对照组20名。无症状对照组、HUTT阴性组、VVS组、...     

CPAP 在先天性心脏病合并重症肺炎心功能不全患儿中的应用

目的探讨持续正压通气(CPAP)在先天性心脏病合并重症肺炎心功能不全患儿中的作用。方法回顾分析130例先天性心脏病合并重症肺炎心功能不全的住院患儿的临床资料。根据治疗措施,将患儿分为CPAP组和对照组,分析治疗前及治疗后2、6、24小时呼吸频率(RR)、心率(HR)、治疗后左室射血分数(EF)的差异。结果 CPAP组58例、对照组72例,两组的性别、年龄、体质量、主要临床症状、重要体征、影像学表现、治疗前血气指标、RR、HR及心功能不全治疗措施的差异均无统计学意义(P均0.05)。治疗后2、6、24小时,两组RR和HR均较治疗前下降,差异有统计学意义(P均0.05);治疗后2、6、24小时,CPAP组的RR和HR均低于对照组,差异有统计学意义(P均0.05)。42例患儿治疗前后监测心功能(CPAP组17例、对照组25例);治疗前,两组EF差异无统计学意义(P0.05),治疗后CPAP组的EF较对照组升高,差异有统计学意义(P0.05)。结论 CPAP可改善先天性心脏病合并重症肺炎心功能不全患儿临床症状、缩短住院时间,对心功能可能也有一定改善作用。     

Risk factors for coronary heart disease in children and young adults

This review covers two ongoing studies in Finland: the Cardiovascular Risk in Young Finns study, which started in 1978, and the Special Turku Coronary Risk Factor Intervention Project for Children (STRIP), which started in 1989. In the cross-sectional Cardiovascular Risk in Young Finns study, cardiovascular risk factors were first assessed in 1980 in 3596 children and adolescents covering ages between 3 and 18 y at 3-y intervals. The latest follow-up examination was performed in 2001, when risk factors and early markers of atherosclerosis in carotid and brachial arteries were examined in 2264 subjects from the original cohorts, now covering ages from 24 to 39 y. The results clearly show that an individual's coronary heart disease (CHD) risk factor profile is regulated by early lifestyle-related factors and that exposure to risk factors in childhood induces changes in arteries that contribute to the development of atherosclerosis in adulthood. In the STRIP study, 1062 infants were randomized into an intervention group ( n = 540; low-saturated-fat, low-cholesterol diet) or a control group ( n = 522) at 7 mo of age. Fat, saturated fat and cholesterol intakes have been lower, while the polyunsaturated to saturated fat ratio has been higher in the intervention children than in the control children throughout the ongoing trial. During the first 7 y of life, serum cholesterol concentration was 0.2–0.3 mmol/l lower in the intervention boys than in the control boys, but the difference was negligible in girls. Neurological development of the intervention children at age 5 y was at least as good as that of the control children. Counselling had no effect on children's growth.