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目的研究特发性矮小(ISS)中矮小同源盒基因(SHOX基因)缺失和突变及该基因增强调控序列(CNE)9的缺失与表型特征的关系。方法采用微卫星分析、外显子及增强调控序列CNE9测序对2008年7月至2010年07月从重庆医科大学附属儿童医院门诊收集的患者354例ISS患者进行SHOX基因分析,对SHOX基因异常患者的表型指标进行相关统计学分析。结果 354例ISS患者中发现SHOX基因异常37例(10.5%),其中外显子突变3例(8.1%),缺失32例(86.5%),另CNE9缺失2例(5.4%)。SHOX基因异常患者表型改变有体质指数(BMI)、坐高/身高、前臂长/上臂长增加;前臂长/身高、四肢躯干比减小、四肢躯干比小于校正身高等。结论 SHOX基因异常与表型特征指标有某些相关关系。     

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??Objective??To investigate the change of the platelet state and function in acute lymphocytic leukemia. Methods??The changes of platelet indices??PLT??PCT??MPV??PDW????immature platelet fraction??IPF%????immature platelet counts??IPC????granule membrane glycoprotein of platelet ??CD62p?? and PAC-1 were obtained by using automatic blood cell analyzer and whole blood flow cytometry??FCM?? respectively??in children with acute lymphocytic
leukemia??ALL????ALL in first complete remission ??ALL-CR1?? and children undergoing elective surgical procedure??control group??. Results????1??Without addition of platelet agonists ADP??expression of platelet surface activated CD62p and PAC-1 in ALL was higher than that in control group??P??0.05????while expression of platelet surface activated PAC-1 in ALL-CR1 was higher than that in control group??P??0.05????and lower than that in ALL??P??0.05??????2??With addition of platelet agonists ADP??expression of platelet surface activated CD62p and PAC-1 in ALL was lower than that in control group??P??0.05????while expression of platelet surface activated PAC-1 in ALL-CR1 was lower than that in control group??P??0.05????and higher than that in ALL??P??0.05??????3?? PLT??PCT and MPV in ALL was lower than that in control group and ALL-CR1 ??P??0.05??????4?? IPF% in ALL was higher than that in control group and ALL-CR1??P??0.05????and IPC was lower than that in control group and ALL-CR1??P??0.05??. Conclusion??The children who are newly diagnosed with acute lymphocytic leukemia have peripheral platelet reactivity and platelet function defects. Platelet indices and platelet membrane glycoprotein can be used as effective indicators to judge the effect on ALL.     

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??Objective??To investigate the value of serum intestinal fatty acid binding protein??I-FABP?? and serum amyloid A??SAA?? in the diagnosis of necrotizing enterocolitis??NEC??in the newborn. Methods??Fifty-six preterm infants with a confirmed diagnosis of NEC from October 2014 to October 2015 were recruited as case group??stage??26 cases??stage??/??30 cases??. Thirty children diagnosed with non-digestive diseases in the same period were recruited as the control group. Serum levels of I-FABP and SAA were determined by enzyme-linked immunosorbent assay.The diagnostic value of I-FABP and SAA for severe NEC was assessed using the receiver operating characteristic??ROC??curve. Results??Stage??/?? cases in the case group had significantly higher serum I-FABP levels and SAA levels than the control group and Stage??cases??P??0.05??. The area under the ROC curve for serum I-FABP was 0.80??95%CI??0.69-0.92????with the optimal cut-off point of 21.8 μg/L. Under this cut-off point??the sensitivity and specificity were 70.0%and 81.0%??respectively. The area under the ROC curve for SAA was 0.76??95%CI??0.63-0.89????with the optimal cut-off point of 1657.8 μg/L. Under this cut-off point??the sensitivity and specificity were 67.0% and 80.0%??respectively. Conclusion??In newborn infants with NEC??serum I-FABP and SAA l can be used as biomarkers for the diagnosis of severe NEC.     

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目的评价胶囊内镜检查在儿科应用的有效性和安全性。方法对2007年9月至2010年12月福建医科大学附属漳州市医院28例临床疑诊小肠疾病的患儿进行胶囊内镜检查。观察胶囊内镜通过胃的平均时间、通过小肠的平均时间、成功率和失败率、小肠病变检出率及患儿的耐受性和并发症。结果 28例患儿均成功吞服胶囊内镜并完整排出,检查过程患儿耐受良好。胶囊内镜通过胃的时间20～280min(中位数64min),通过小肠的时间93～380min(中位数255min),检出病变20例(20/28,71.43%)。结论对疑诊小肠疾病,胶囊内镜检查是的一种有效和安全的方法。     

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??Objective To investigate the effect and safety of single dose of dezocine for anesthesia in children with cyanotic complex congenital heart disease on cardiac catheterization??and compare it with ketamine. Methods Sixty-four children with cyanotic complex congenital heart disease undergoing cardiac catheterization??under 6 years old?? between January 2014 and April 2015 in the First Hospital of Tsinghua University were randomly divided into intravenous dezocine??0.2 mg/kg?? group ??group D??n = 32?? and intravenous ketamine??2.0 mg/kg?? group ??group L??n = 32?? as soon as arriving at OR. All patients were inserted the laryngeal mask??LMA??after the same intravenous induction and the initial end-tidal concentration of sevoflurane was 2.0% to 2.5%. The time to lose consciousness??T1????mask assisted ventilation time??T2????anesthesia recovery time??T3????and such adverse reactions as airway spasm??respiratory depression??dysphoria??pain??nausea and vomiting were recorded. Results T1 of group D was significantly longer than that of group L??P??0.05??. T3 of group D was significantly shorter than that of group L??P??0.05??. The cases whose drop of SPO2 during induction and after extubation was greater than 20% and who needed suction more than twice in group D were fewer than in group L??P??0.05??. Conclusion Single dose dezocine of 0.2 mg/kg can be safely used in children with cyanotic complex congenital heart disease on cardiac catheterization??providing satisfactory sedation and analgesia??and the incidence of airway adverse reaction is lower than that of ketamine.     

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目的比较3种不同预测成年身高(PAH)的方法(B-P法、TW3法和曲线法)对特发性矮小症(ISS)患儿的预测价值。方法 1999—2002年上海交通大学医学院附属瑞金医院儿内科就诊的ISS患儿32例,其中男25例,女7例;就诊时平均年龄(11.9±1.9)岁;均未接受任何药物助长治疗,平均年龄对应身高标准差分值(HtSDSCA)为-2.62±0.63,进行终身高随访。采用Greulich-Pyle图谱法(G-P法)和TW3-RUS法评价骨龄成熟程度,并作对应骨龄预测成年身高(PAH)。通过单因素方差分析和直线相关分析,比较不同方法预测效率及其影响因素。结果 G-P法和TW3法评判ISS患儿BA差异有统计学意义(t=4.33,P<0.01)。B-P法、TW3法和曲线法所得PAH间差异无统计学意义(F=0.24,P>0.05);B-P法、TW3法及曲线法预测值与实际终身高(FAH)均呈正相关(r=0.892、0.740、0.821,P<0.01)。在BA<10岁的男性患儿中,3种预测方法所得PAH值与FAH差值间的方差分析差异无统计学意义(P>0.05),但TW3法的预测偏差较另两种方法大。G-P图谱粗读骨龄平均为(9.93±2.25)岁,与细读骨龄(10.55±2.23)岁间差异有统计学意义(P<0.01),其对应骨龄的B-P法预测成年身高两者差异存在统计学意义(P<0.01)。结论 3种不同预测成年身高方法(B-P法、TW3法和曲线法)均能适用于ISS的临床诊治及随访,其中B-P法和曲线法预测效率相似,且略优于TW3法。但在临床应用中还需注意用于评价骨龄的G-P法的仔细比较,以免影响预测。过小骨龄者须谨慎使用TW3法。     

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??Objective??To explore the effect of group training of parents’ behavioral management skills in the treatment of preschoolers’ externalizing problem behaviors. Methods??The two kindergartens in Shenzhen were screened with Child Behavior Scale Chinese scale??CBSC???? each kindergarten was selected as externalizing problem behaviors intervention group??15 person?? and the control group??10 person??. The parent of the intervention group had 8 sessions of group training sessions about behavioral management skills?? and no intervention was given to the control group. Compare the CBSC scores in two groups before and after the intervention?? and the satisfaction of parents was investigated. Results??There were 23 effective data in intervention group and 18 in control group. After the parents received the group training?? their children’s attention scores??12.30±5.30????restlessness scores??10.96±4.76????and the externalizing problem scores??24.13±8.65??were significantly lower than before???16.13±5.35??????13.35±4.16??????30.78±5.81????P??0.05??. The aggression score was significantly lower than before???0.87±0.87?? vs. ??2.67±2.95????P??0.05??. The satisfaction survey showed that 100% of the parents were satisfied with the training??with 73.91% of the parents who thought the training helped a lot. Conclusion??Parent behavioral management skills group training is an effective and feasible way to treat the externalizing problem behaviors in preschool children. Further improvement and exploration of standardized parental training methods can help to meet the needs of children’s psychological clinical and health care development??and the demand for health service of children.     

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目的 了解昆明地区呼吸道合胞病毒(RSV)在小儿急性下呼吸道感染中的发生率和临床特征.方法 对昆明市儿童医院2006年4月至2007年4月临床诊断为急性下呼吸道感染的住院患儿1112例行痰间接免役荧光法检测呼吸道合胞病毒抗原.结果 1112例标本中,阳性276例,阳性率24.82%,其中男190例(17.09%),女86例(7.73%),男女发病比例为2.21∶1.全年均可检出RSV,发生率最高的是10～12月份(30.15%),最低的是4～6月份(10.93%).RSV感染多见于3岁以下,尤以6个月以下患儿感染率最高(36.22%).结论 呼吸道合胞病毒是引起昆明地区小儿急性下呼吸道感染的主要病原,特别是婴幼儿感染率最高.     

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??Objective??To detect pathogenic genes of short stature with unknown etiology by a targeted next generation sequencing panel to analyze the correlation between genotypes and clinical phenotypes. Methods??A total of 77 children diagnosed with unexplained short stature were enrolled for the study. These children were treated in Ruijin Hospital of Shanghai Jiao Tong University from 2007 to 2015. To search for genetic variation in 187 candidate genes which were associated with growth?? we constructed a targeted next generation sequencing panel encompassing the coding regions of 187 genes. According to ACMG Guidelines??the sites of variation were determined. Sanger sequencing was used to verify the suspected pathogenic genes variation. The relationship between genotype and clinical phenotype was analyzed. Results??Including 5 pathogenic variants?? one likely pathogenic variant and one variant of uncertain significance?? we identified 7 heterozygous variants of 7 cases in 77 cases of short stature with unknown etiology. A pathogenic variant p.D2407fs of ACAN gene was found in a case with advanced bone age. There were 3 reported pathogenic variants?? including p.A72G?? p.I282V and p.P491S of PTPN11 gene?? which were diagnosed as Noonan syndrome. A case carrying known pathogenic variant COL2A1??p.R904C?? was diagnosed as Stickler syndrome. We still got one likely pathogenic variant COMP??p.D401N???? which could cause multiple epiphyseal dysplasia. There was a familial short stature of delayed bone age carrying a variant??p.S289Y?? of uncertain significance??in which the genotype was in accordance with the clinical phenotype. Conclusion??The ACAN gene defection is associated with the idiopathic short stature with advanced bone age. The likely pathogenic variant COMP??p.D401N?? may cause multiple epiphyseal dysplasia. The newly-found heterozygous varians??p.S289Y?? of GHSR gene may result in short stature??which needs further function verification.     

小于胎龄儿新生儿期ghrelin水平与生长轴关系的研究

目的通过比较小于胎龄儿（SGA）与适于胎龄儿（AGA）新生儿早期血ghrelin水平和代谢促生长轴各因素的差别和相关性,探索ghrelin在SGA发病机制中的作用。方法通过配对对17例SGA和17例AGA的血清ghrelin、IGF-1、生长激素、胰岛素、血糖浓度进行比较并分析其差异的意义。结果与AGA组相比,SGA组血ghrelin水平显著升高（P〈0．05）,血IGF-1、胰岛素水平显著下降（P〈0．05）,血生长激素和血糖水平差异无统计学意义。结论与AGA相比,SGA新生儿有高ghrelin血症。SGA新生儿的高血ghrenlin水平伴随其低下的出生体重、身长、血IGF-1、胰岛素水平,在一定程度上反映了其宫内营养不良状况。ghrelin作为胰岛素的反调节激素,SGA的ghrelin高分泌可能是宫内能量负平衡所致低胰岛素、低IGF-1状态反馈和／或重整性调控的结果。     

Abnormal fetal growth: intrauterine growth retardation, small for gestational age, large for gestational age

The two extremes of abnormal fetal growth are restricted growth and excessive growth, both of which originate from alterations in the uterine metabolic milieu. The fetus must adapt to these conditions to survive. In both instances, however, the inciting insult and the subsequent adaptation of the fetus carry long-term health consequences. In some instances, these changes may have generational implications. Counseling and care by pediatricians should be directed at the continuum of age ranges, including the expectant mother, the newborn, the child and adolescent, and future generations.     

Influence of gestational age and intrauterine growth on leptin concentrations in venous cord blood of human newborns

BACKGROUND: The ob gene product leptin is involved in the regulation of body weight and energy expenditure, suggesting a potential role of leptin in embryonal and fetal development and progression of pregnancy. In term infants, leptin concentrations showed a positive correlation with birth weight. We aimed at comparing leptin cord blood levels in AGA (appropriate for gestational age) to SGA (small for gestational age) preterm and term newborns. PATIENTS AND METHODS: Ninety-seven human newborns, 47 females and 50 males, 33 born at term and 64 born before 36 weeks of gestation, were studied prospectively. Leptin concentrations in venous cord blood were determined using a specific RIA (radioimmunoassay). RESULTS: In term newborns, mean gestational age (GA) was 39 weeks (wk) (+/- 0.7 wk) and mean birth weight (BW) was 3316 g (+/- 473 g); in preterm newborns (n = 64), mean GA was 30 wk (+/- 5.0 wk) and mean BW was 1398 g (+/- 505 g). Mean standard deviation score of birth weight (BW SDS) was calculated as - 0.47. Mean leptin concentrations in term newborns differed significantly from those in preterm newborns (9.21 +/- 2.63 ng/ml vs. 1.58 +/- 0.88 ng/ml; p < 0.0001). In preterm and term infants, leptin concentrations showed a linear correlation with BW (r = 0.46; p < 0.0001) and GA (r = 0.48; p < 0.0001), respectively. Leptin levels were best predicted by an exponential regression model with GA (Leptin = exp(- 4.41 + 0.14 x GA); r = 0.61; p < 0.0001). Using multivariate regression analysis (r = 0.57; p < 0.0001), we found significant influences of GA (p < 0.00001) and BW SDS (p < 0.05) on leptin levels. No difference was observed between leptin values in AGA versus SGA preterm infants. CONCLUSION: These data suggest fetal leptin levels to be primarily determined by GA and additionally modulated by growth restriction in term newborns. We found a dramatic increase at weeks 33 to 35 of gestation and no modulation by BW SDS in very preterm infants.     

足月新生儿脐血ghrelin水平与瘦素、生长激素水平关系研究

目的 探讨ghrelin调节胎儿生长发育的可能的作用机制.方法 采用放射免疫法测定78例足月新生儿脐血ghrelin、瘦素、生长激素水平,分析脐血ghrelin、瘦素、生长激素水平与出生体重的关系及脐血ghrelin水平与瘦素、生长激素水平间的关系.结果 小于胎龄儿(SGA)、适于胎龄儿(AGA)、大于胎龄儿(LGA)三组间新生儿脐血ghrelin、瘦素水平差异均有统计学意义(P均<0.01).脐血ghrelin水平与出生体重呈负相关性(r=-0.339,P=0.002),脐血瘦素水平与出生体重呈正相关性(r=0.373,P=0.001),脐血ghrelin水平与瘦素无相关性(P=0.175).脐血生长激素水平与出生体重、脐血ghrelin水平均无相关性(P=0.267,0.059).结论 Ghrelin及瘦素共同调节胎儿生长发育的机制可能与出生后两者的调节机制有所区别,Ghrelin可能并非通过刺激生长激素分泌而发挥调节胎儿生长发育作用.     

早产小于胎龄儿生长代谢的临床研究

目的 探讨早产小于胎龄儿（SGA）与适于胎龄儿（AGA）在住院期间生长代谢的差异,为临床对早产SGA进行营养干预提供依据。方法 1 370例早产儿纳入研究,根据胎龄与出生体重的关系分为SGA组（675例）与AGA组（695例）,比较两组早产儿住院期间的一般情况、体格增长及血生化指标等情况。结果 SGA组住院天数长于AGA组（P < 0.05）。与AGA组相比,SGA组出院体重、出院体重Z评分及出院身长均较低,宫外生长迟缓发生率较高（P < 0.05）,头围增长速率大于AGA组。与AGA组相比,SGA组达全肠内喂养时间及需肠外营养时间均较长（P < 0.05）。SGA组入院时白蛋白、前白蛋白、血清磷、出院前总胆汁酸高于AGA组,白蛋白低于AGA组（P < 0.05）。SGA组窒息、新生儿呼吸窘迫综合征、心肌损伤、喂养不耐受、肺炎、败血症、低血糖、低甲状腺素血症的发生率高于AGA组（P < 0.05）。结论 早产SGA住院期间体格发育明显落后于AGA,宫外生长迟缓发生率较高,更易出现并发症。     

无生长追赶小于胎龄儿胰岛素敏感性及垂体-甲状腺轴变化的研究

目的探讨无生长追赶小于胎龄儿(SGA)胰岛素敏感性及垂体-甲状腺轴的变化。方法选择近3年中山大学附属第一医院儿科内分泌专科门诊的青春前期生长迟缓儿童,按性别、年龄、体块指数(BMI)匹配分为两组,即无生长追赶SGA组和矮小适于胎龄儿组(AGA),各24例进行病例对照研究。两组均检测空腹血糖、血清胰岛素及血清TSH、T3、T4,并计算血糖/胰岛素比值(G/I比值)、胰岛素抵抗指数(HOMA-IR)和胰岛β细胞功能(HOMA%)。结果SGA组空腹血糖与AGA组比较无显著性差异,但空腹胰岛素、HOMA-IR、HOMA%均显著高于AGA组(8.0±6.2vs4.4±2.8mU/L,1.8±1.4vs1.0±0.7和183.0±145.9vs70.8±43.6,P均<0.05);SGA组HOMA-IR>3人数显著高于AGA组(7/24vs1/24,P<0.05);G/I比值显著低于AGA组(17.8±15.1vs33.2±28.9,P<0.05)。SGA组血清TSH显著高于AGA组(2.9±0.8vs1.9±0.9mU/L,P<0.01),而血清T3、T4两组比较差异无统计学意义。SGA血清胰岛素、HOMA-IR与出生体重SDS呈负相关(r=-0.547和-0.482,P均<0.05);SGA血清TSH与出生身长SDS呈负相关(r=-0.571,P<0.01)。结论无生长追赶SGA存在胰岛素抵抗和垂体-甲状腺轴的改变,无生长追赶SGA需要长期随访和早期干预,以预防或延缓代谢综合征发生。     

Placental gene expression is related to glucose metabolism and fetal cord blood levels of insulin and insulin-like growth factors in intrauterine growth restriction

Despite the importance of glucose for fetal growth, placental gene expression related to the glycolytic pathway has not been studied. Insulin-like growth factors (IGFs) and insulin are known to play a critical role in fetal growth. In our study, we identified differentially expressed genes related to the glycolytic pathway using oligonucleotide microarray analysis and confirmed these genes with quantitative real-time PCR between uncomplicated pregnancies and pregnancies with intrauterine growth restriction (IUGR). We also compared the concentrations of insulin and IGFs in cord blood between the two groups. Microarray experiments identified increased expression of glycolytic enzyme-related genes, including lactate dehydrogenase C (LDHC), dihydrolipoamide S-acetyltransferase (DLAT), 6 phosphofructo-2-kinase/fructose-2, 6-biphosphatase 2 (PFKFB2), oxoglutarate dehydrogenase, phosphorylase, and insulin-like growth factor (IGF)-II and decreased expression of IGF-I in placentas from pregnancies with IUGR (p < 0.05). There were significantly lower concentrations of glucose, insulin, IGF-1, and IGF-II in the fetal cord blood of pregnancies with IUGR (p < 0.05). Microarray analysis revealed increased expression of enzyme genes related to the tricarboxylic acid cycle pathway in placentas from pregnancies with IUGR; the cause of hypoglycaemia in IUGR is attributed to increased glycolytic pathway activity in placentas from pregnancies with IUGR.