目的 探讨新生儿雷诺现象的临床特点、诊疗及预后.方法 选取2016年1月至2018年12月陕西省人民医院新生儿重症监护病房收治的雷诺现象患儿临床资料进行回顾性分析.结果 纳入雷诺现象新生儿11例,男8例,女3例;早产儿9例,足月儿2例;胎龄为28+2～40+2周,平均胎龄32+3周;入院体重为990～4200g,平均1963g;发病时间为生后14min至144h,平均46.0h.新生儿主要表现为手、足第2～4指(趾)或肢体末端发花、发绀、苍白,多数为单侧,少数为双侧;随着病情进展出现发花、发绀与苍白交替出现,并伴有局部水肿.患儿均有动脉穿刺病史;呼吸困难4例;凝血功能不同程度异常6例;临床败血症4例(白细胞计数和降钙素原及C反应蛋白(CRP)明显升高4例,血培养阳性1例).采用肝素钠乳膏及多磺酸粘多糖乳膏交替外涂并按摩局部、酚妥拉明或硫酸镁热敷,体位性治疗,多巴胺、罂粟碱改善血管循环治疗;对凝血异常患儿予以伊诺肝素,病情严重者应用血浆,感染指标高时予以抗生素等综合治疗方法 .1例患儿发生手指末端干性坏死脱落,其余患儿治愈.结论 新生儿雷诺现象发病较早,早期症状不典型,如能采取措施减少在血管侧枝循环不良部位穿刺、严密观察病情,尽早发现异常、早期治疗可避免后遗症的发生.

目的 探讨自噬作用在早产儿视网膜病变大鼠病情进展中的调控作用及相关机制.方法 20只SD大鼠随机选取10只孕鼠正常分娩,不做任何特殊处理,待其顺利分娩后选取20只足胎龄幼鼠进行下一步实验;另取10只孕鼠采用脂多糖(LPS)制备早产模型,诱导孕鼠早产,取20只早产幼鼠.将所得幼鼠平均分为正常分娩+空气组、正常分娩+视网膜病变组、早产+空气组、早产+视网膜病变组,每组各10只.对比分析各组大鼠视网膜无血管区和新生血管区面积大小、视网膜血管内皮生长因子(VEGF)和胰岛素样生长因子1(IGF-1)表达水平以及白细胞介素-1β(IL-1β)和白细胞介素-6(IL-6)含量;同时检测幼鼠视网膜组织中自噬小体数量、自噬相关蛋白和Akt、p-Akt、mTOR、p-mTOR蛋白表达水平.结果 相较于正常分娩+空气组,正常分娩+视网膜病变组、早产+空气组、早产+视网膜病变组血管区和新生血管区面积、VEGF和IGF-1 mRNA表达水平、IL-1β和IL-6含量和P62、Akt、p-Akt、mTOR、p-mTOR蛋白表达水平均有所上调,自噬小体数量和自噬相关蛋白Beclin-1、LC3-Ⅱ和ATG5表达水平则有所下降,尤其是以早产+视网膜病变组最为显著(P<0.05).结论 早产儿视网膜病变大鼠病情进展与视网膜组织自噬活性降低有关,且作用机制可能通过Akt-mTOR信号通路调控自噬相关蛋白表达而实现.

Objective:To explore clinical features, gene detection results, diagnosis and treatment of neonatal Marfan syndrome (MFS) caused by de novo mutation of fibrinogen (FBN)1 gene.Methods:A child who was hospitalized in the Department of Neonatology of Shaanxi Provincial People′s Hospital on March 8, 2018 and was diagnosed as neonatal MFS caused by de novo mutation of FBN1 gene, aged 10 hours after birth. At the same time, the related literatures of children with FBN1 gene mutation in domestic databases were searched and reviewed. This study was in line with the World Medical Association Declaration of Helsinki revised in 2013 and informed contents were obtained from all patients′ guardians.Results:① Medical history: the child was a female and was found to have an abnormal appearance and blue lips after birth, and was given oxygen by nasal cannula. The skin of the whole body was dry and flabby, the ears were slightly large, the ear position was low, the limbs were slender, the upper limbs were flexion and could not be fully straightened, the muscle strength of both wrists were poor, the hands were claw-like and palm-like. Both feet are overly toe-flexed. Grade Ⅱ-Ⅲ/6 systolic murmur could be heard in the precordial region. Color Doppler echocardiography showed patent ductus arteriosus, slightly enlarged whole heart and widened internal diameter of aortic sinus. ②Gene detection results: the heterozygous mutation of c. 3241t>C at chr15-48780406 was a de novo mutation, resulting in the change of amino acid p. Cys1081Arg (cysteine>arginine). This mutation leads to neonatal onset, and this mutation has not been reported in Human Gene Mutation Database Professional (HGMDpro). ③ Literature review results: literature review of 9 neonatal MFS cases were retrieved. Ten cases were genetically tested for de novo mutations in FNB1 gene, all of which were located in the " neonatal region" of exons 24 to 33 of the FBN1 gene. All 10 children had skeletal abnormalities of the extremities, 8 had cardiac abnormalities, 5 had ocular abnormalities, 4 had loose skin, poor elasticity, and little subcutaneous fat, and 1 had hydronephrosis.Conclusions:De novo mutation site of FBN1 gene: c. 3241t>C heterozygous mutation at chromosome chr15-48780406. It provides a new idea for clinical diagnosis of MFS, especially for neonatal MFS.

Objective To study the clinical manifestations,imaging features,treatment and outcome of umbilical venous catheters/peripherally inserted central venous catheters (UVC/PICC) associated pericardial effusion (PCE) and cardiac tamponade (CT) in neonates.Method Clinical data of cases with UVC/PICC associated PCE/CT that were found in neonatal intensive care unit of five hospitals in Shanxi province from January 2017 to December 2018 were extracted and retrospectively reviewed.Result In total,there were 632 cases received UVC/PICC insertions in 5 hospitals.7 cases of which were identified as PCE (1.0％) on echocardiography during the period of catheter indwelling,among which 5 cases suffered from PCE complicated CT (0.7％).7 cases with PCE included 6 premature infants and 1 full term infants with mean gestational age (32.6 ± 3.8) weeks and mean birth weight 1 550 (1 200,3 960) g.The mean age of PICC/UVC insertion was 14 h (1 ～ 19 h),the mean age of PCE/CT developed was 69 h (13 ～104 h) after insertion.The most common presentations included apnea/respiratory distress (7 cases),cyanosis/desaturation (7 cases),tachycardia (3 cases),bradycardia/asystole (5 cases).UVC/PICC tip ectopic was found in 6 cases after the symptoms of PCE emerged (4 cases at T6-T7 and 1 case at T12 vertebra level on chest X-ray,and 1 case at right atrium on echocardiogram).UVC/PICC tip was normal in 1 case (tip at T7-T8 vertebra level on chest X-ray).5 cases recovered after removal of catheter,pericardiocentesis and drainage of effusion;1 case recovered after removal of UVC without pericardiocentesis;1 case underwent pericardiocentesis,continued infusion for 5 h after extubated the UVC into inferior vena cava,then deceased.Conclusion UVC/PICC tip ectopic is the main cause of UVC/PICC associated PCE/CT.Immediate bedside echocardiography should be performed to any patient with UVC/PICC indwelling,who develops sudden unexplained apnea/respiratory distress,cyanosis,tachycardia/bradycardia/asystole.Timely removal of catheter and pericardiocentesis drainage may be life-saving.

目的 探讨早产儿与足月儿败血症病原菌分布特点及耐药规律,为临床合理用药 、降低新生儿败血症死亡率提供理论依据.方法 收集2014年1月1日至2016年12月31日确诊为败血症的新生儿临床资料,将这些新生儿分为早产儿败血症组(127例,简称早产儿组)与足月儿败血症组(41例,简称足月儿组),比较两组的构成比 、病死率 、病原菌分布及耐药率差异.结果 早产儿败血症占同期住院早产儿的4.43％(127/2861),显著高于足月儿组1.34％(41/3057)(χ2=51.42,P<0.05);早产儿组与足月儿组病死率比较无明显差异(5.51％vs.7.32％,P>0.05).检出引起败血症前五位病原菌依次为肺炎克雷伯菌 、大肠埃希菌 、表皮葡萄球菌 、光滑假丝酵母菌 、高里氏假丝酵母菌.革兰阴性菌检出率最高(57.74％),真菌检出率最低(19.64％).早产儿组真菌检出率高于足月儿组(25.2％vs.2.4％,P=0.001),足月儿组革兰阳性菌检出率高于早产儿组(34.2％vs.18.9％,χ2=4.12,P<0.05).葡萄球菌 、肺炎克雷伯菌 、大肠埃希菌的产酶率在早产儿组与足月儿组中均较高(分别为92.9％vs.70.0％ 、64.7％vs.53.3％ 、30％vs.44.4％),耐药率也较高,两组比较均无统计学差异(均P>0.05).利奈唑胺 、万古霉素 、替考拉宁 、达托霉素 、阿米卡星 、美罗培南尚未发现耐药菌株.结论 定期分析早产儿与足月儿败血症病原菌分布差异及耐药规律,可为临床合理用药,减少耐药菌株产生,降低新生儿败血症死亡率提供一定的依据.

目的:观察牛肺表面活性剂联合氨溴索治疗早产儿呼吸窘迫综合征(NRDS)的临床疗效.方法:选择2012年1月至2014年12月在陕西省人民医院确诊并接受治疗的NRDS早产儿62例,随机分为对照组32例和观察组30例.两组均给予相同的综合治疗,对照组在综合治疗基础上给予注射用牛肺表面活性剂70 ～ 100 mg/kg气管内滴入,观察组给予注射用牛肺表面活性剂(剂量同上)联合静脉滴注氨溴索7.5 mg/kg治疗,比较两组患儿治疗前后的机械通气参数与血气指标的变化,并比较两组患儿机械通气时间、吸入氧浓度(FiO2)及住院时间.结果:两组治疗前及治疗后血二氧化碳分压(PaCO2)、氧分压(PaO2)、血氧饱和度(SpO2)和pH组内比较差异均有统计学意义(P＜0.05);治疗1h、24h后两组患儿血PaCO2 、PaO2 、SpO2和pH比较差异无统计学意义(P＞0.05).治疗后24h观察组FiO2低于对照组(P＜0.05).两组患儿上机时间及住院时间比较差异无统计学意义(P＞0.05).观察组撤机后氧疗时间较对照组缩短(P＜0.05).结论:牛肺表面活性剂联合氨溴索治疗早产儿RDS可以尽早降低呼吸治疗中吸入氧浓度及撤机后氧疗时间,从而对早产儿的NRDS治疗起到积极作用.

目的 探讨新生儿深部真菌感染的临床表现、病原菌、药物敏感性以及抗真菌治疗效果.方法 回顾性分析2011-01～ 2014-12陕西省人民医院新生儿科收治的新生儿深部真菌感染患儿的临床资料.结果 新生儿真菌败血症的发病率为0.23％,其易感人群为胎龄(31.29±3.61)周、出生体质量为(1478±593.1)g的早产儿.发病时均有反应差、喂养不耐受等表现;实验室检查可有外周血白细胞计数异常,血小板下降,超敏C反应蛋白和降钙素不同程度升高.常见病原菌为光滑假丝酵母菌.真菌败血症治愈率为75％;平均抗真菌治疗为25 d.结论 新生儿真菌败血症病原菌以光滑假丝酵母菌为主,对氟康唑敏感性较高;早期、足疗程抗真菌治疗预后效果较好,治愈率高.

目的 检测窒息新生儿血清miR-21,miR-210和miR-424的表达水平,为microRNA在新生儿窒息的早期诊断和治疗提供理论依据.方法 运用RT-PCR方法检测62例窒息新生儿血清microRNA的表达水平.根据出生时Apgar评分,分为轻度窒息组45例,重度窒息组17例和30例健康孕妇脐血,以U6snRNA为内参,检测miR-21,miR-210和miR-424在血清中的表达水平.结果 3种microRNA在所有组中均可检测到,与对照组比较,miR 21和miR 210在窒息患儿血清中表达水平上调4.57±0.41和4.18±0.32倍(t=3.02,2.72,P＜0.05),且重度窒息组高于轻度窒息组(t=2.23,2.25,P＜0.05).miR 424表达水平无差异(1.34±0.19,t=0.29,P＞0.05).结论 miR 21和miR-210在窒息患儿血清中表达上调,与病情严重性正相关,检测其在血清中的表达量对新生儿窒息的早期诊断与预后判断具有重要的临床意义.

目的：探讨血气及电解质分析在新生儿窒息诊断中的价值。方法：采用ABL-77血气分析仪，检测82例窒息新生儿的血气pH 值、PaO2、PaCO2、HCO3-、BE值和电解质（K＋、Na＋、Cl-和Ca2＋）。根据Apgar评分将患儿分为：Apgar评分4～7分轻度组59例，Apgar评分＜3分重度组23例，结果：重度窒息组pH值、PaO2、HCO3-低于轻度窒息组，而PaCO2、BE绝对值高于轻度窒息组，差异有统计学意义。血气pH值、PaO2、HCO3-值与新生儿Apgar评分，呈正相关性， PaCO2、BE绝对值与新生儿Apgar评分，呈负相关性。窒息新生儿血清K＋、Na＋、Cl-水平均降低，但轻、重窒息组间无显著性差异。重度窒息患儿血清C a2＋明显低于轻度窒息者，差异有统计学意义。结论：在新生儿窒息诊断中，动脉血气及电解质分析能够弥补传统Apgar评分的不足，对新生儿窒息的早期诊断与预后判断具有重要的临床意义。

目的 探讨心肌酶检测在新生儿窒息诊断中的应用价值.方法 选取陕西省人民医院收治的82例窒息新生儿为研究对象,根据Apgar评分将其分为Apgar 4～7分为轻度组59例,Apgar＜3分为重度组23例,抽取入院后12 h内及治疗后第3天静脉血,并选取30例同期住院无缺氧的新生儿为对照组,采用日立7170用速率法检测血清天门冬氨酸氨基转移酶(AST)、肌酸激酶(CK)、肌酸激酶同工酶(CK-MB)、乳酸脱氢酶(LDH)和α-羟酸脱氢酶(HBDH).结果 重度窒息组AST,CK,CK-MB,LDH和HBDH水平(170.1±32.3 U/L,1 264.5±207.2 U/L,214.5±86.1 U/L,918.5±239.5U/L和747.3士172.5 U/L)高于轻度度窒息组(72.7±20.9 U/L,460.4±164.1 U/L,70.1±26.6 U/L,402.7±107.5 U/L和349.6±122.1 U/L,t值=7.81,15.87,9.95,11.59和10.07,P均＜0.01)高于正常组(33.1±11.8 U/L,201.1±44.8 U/L,23.2±6.5 U/L,181.2±34.9 U/L和198.1±35.4 U/L,t值=5.48,4.97,5.46,6.43和3.89,P均＜0.01),治疗3天后心肌酶水平大幅回落,与治疗前比较差异有统计学意义(t=1.73,P＜0.05).结论 血清心肌酶水平能较及时地反映窒息新生儿缺氧性心肌损伤的程度,及早测定其水平变化,对判断病情,指导治疗有重要临床意义.

发病机制及病理生理感染轮状病毒主要生长于小肠的上皮细胞内.胰蛋白酶虽在恒河猴轮状病毒细胞感染中不是必须的,但是在人类轮状病毒感染中却是必须的.胰蛋白酶将VP4分裂为VP5及VP8,VP8是细胞上受体的配体.轮状病毒感染成熟的具有吸附性的小肠上部2/3的上皮绒毛,并在细胞浆中进行轮状病毒RNA的复制及结构和非结构蛋白的合成.

目的:探讨血清降钙素原(PCT),C-反应蛋白(CRP)检测在新生儿全身炎症反应综合征(SIRS)治疗前后水平的变化及临床意义。方法:选取新生儿科收治的符合SIRS诊断标准的患儿80例及对照组30例,SIRS组按出院诊断分为:细菌感染组52例和非细菌感染组28例。应用半定量胶体金免疫色谱检测法,免疫散射比浊法检测入院第1天及治疗后1周患儿血清PCT、CRP、WBC。结果:SIRS患儿血清PCT、CRP水平明显高于对照组。细菌感染组血清PCT水平较非细菌感染组明显升高,两组间CRP、WBC检测差异无统计学意义。治疗后,两组间血清PCT、CRP水平明显下降,与急性期比较差异有显著性。结论:联合检测新生儿SIRS治疗前后血清PCT,CRP水平的变化可作为病因鉴定,病情监测和疗效评价指标。

目的:探讨人免疫球蛋白在川崎病治疗中对心肌损害的影响。及不同给药时间对治疗效果的影响。方法:对确诊为川崎病的患儿与同期患上呼吸道感染的患儿治疗前后血中MMP-9、ES等的变化进行了临床对比研究。结果:川崎病患儿急性期血清MMP9、ES质量与浓度及sCRP、血沉、血小板均较对照组儿童显著增高(P<0.05)。A(早期治疗组)、B(5～7天治疗组)组之间治疗后sCRP、血沉及血小板无统计学差异(P>0.05),MMP9及ES的质量与浓度存在统计学差异(P<0.05)。结论:MMP-9及ES水平与川崎病患儿冠状动脉损害存在相关性,可将其作为川崎病冠脉损害的检测指标。

<正>轮状病毒是导致全球儿童急性重症腹泻的重要原因,小儿轮状病毒性腹泻也是发展中国家小儿死亡的主要疾病。了解该疾病的发病机制、临床特征等情况,有助于降低该病引起的死亡率。

目的 监测感染性腹泻病的病原菌及其耐药性,从而对抗生素的临床应用提出指导.方法 应用肠道病原菌常规分离鉴定、药敏试验技术及临床疗效观察方法 ,对416例儿童细菌性肠炎患儿的病原学、药敏及治疗进行分析.结果 从883例急性感染性腹泻患儿粪便中共分离出致泻性病原菌416株.其中志贺菌属317株,检出率为35.9%;沙门菌属36株,检出率为4.1%;弧菌属30株,检出率为3.4%;气单胞菌属11株,检出率为1.2%;类志贺邻单胞菌属11株,检出率为1.2%;侵袭性大肠杆菌 11株,检出率为1.2%.临床疗效及药敏试验显示,头孢三嗪是治疗感染性腹泻病的高敏感性药物.结论 志贺菌为陕西地区主要的腹泻病原菌,占总菌株的76.2%;头孢三嗪为治疗小儿感染性腹泻病的临床有效治疗药物.

OBJECTIVE:Children with Tourette's syndrome (TS) have a poor treatment compliance due to side effects and inconvenient administration of oral drugs. This study explored the efficacy and safety of clonidine transdermal patch for treating TS in children. METHODS:A total of 119 children with TS were randomly treated with the clonidine transdermal patch (n=65) or with oral haloperidol (n=54). The therapeutic efficacy was assessed based on the results of the Yale Global Tic Severity Scale (YGTSS) 4 weeks after treatment. RESULTS:The clonidine transdermal patch group showed a higher reduction in the overall tic symptom scores (61.5+/-7.5%) than that in the haloperidol group (41.0+/-6.3%; p<0.05). Clonidine transdermal patch treatment was effective in 53 patients (81.5%) and 36 patients (67.5%) showed effective to oral haloperidol (p>0.05). Mild side effects (decrease of blood pressure and dizziness) were observed in 1 patient in the clonidine transdermal patch group. Mild hypermyotonia, drowsiness or lassitude as side effects occurred in 6 patients in the haloperidol group. CONCLUSIONS:Clonidine transdermal patch is effective for the treatment of TS in children and its side effects are mild and rare.

【目的】总结儿童糖原累积症的诊治经验,提高对糖原累积症Ⅰ型的诊治水平。【方法】回顾性分析2002~2007年本院及在北京协和医院进修期间收治的临床诊断Ⅰ型共46例糖原累积症患儿的临床资料。【结果】最常见的临床表现为腹部膨隆、肝大、乏力、生长发育落后、幼稚面容、低血糖抽搐、鼻衄、低血糖、高脂血症、代谢性酸中毒,患儿经用生玉米淀粉治疗,症状得到明显好转。【结论】患儿发现明显肝大、低血糖、酸中毒,肾上腺刺激试验阳性是诊断的主要指征,生玉米淀粉治疗效果明显。强调临床确诊后要及早并长期坚持生玉米淀粉治疗。

目的:研究蒙脱石散剂保留灌肠与口服对比治疗小儿腹泻病的疗效.方法:以一次口服量(每日剂量分为3次)的2倍量溶于5～20mL 0.9%盐水中保留灌肠,每日1～2次作为治疗组.蒙脱石散剂口服(每日量分为3次)作为对照组.两组其余治疗相同.结果:接受蒙脱石散剂保留灌肠组的平均治疗天数明显短于口服组,且无异常副反应发生.结论:蒙脱石散剂保留灌肠对治疗小儿腹泻病疗效优于口服.

目的探讨血清肌钙蛋白I(cTnI)在肺炎支原体(MP)感染患儿心肌损害早期的诊断价值及细胞免疫(红细胞免疫及T细胞亚群)状况,证实其发病存在免疫机制,为早期诊断、有效治疗提供依据.方法对84例疑似心肌损害以MP感染患儿进行cTnI、红细胞免疫及T细胞亚群测定.血清肌钙蛋白I用微粒子化学免疫分析仪测定,红细胞免疫功能测定采用刘景田法,T细胞亚群采用S-P一步法,MP抗体IgM采用固相酶联免疫吸附法(ELISA法).结果感染早期心肌cTnI增高,RBC-C3 b花环率下降,免疫复合物(IC)花环率升高,促进因子(E)活性降低,抑制因子(I)升高,E/I降低,CD3、CD4下降,CD8升高,CD4/CD8下降.结论 MP感染致心肌损害早期血清cTnI升高,其发病机制与免疫损伤有关.

OBJECTIVE:To study the clinical and epidemiological manifestations on abused children, in order to find ways of prevention.METHODS:Retrospective study was carried out clinically and epidemiologically on 86 cases abused children from 1998.1 - 1999.12.RESULTS:The sex ratio (male:female) in the abused children was 0.76:1. Most cases were 3 - 16 years olds. Abuse incidences were most commonly occurred in spring and winter, accounted for 32.56% and 33.72% respectively. Most abuses happened physically (45.34%), predominantly involved skin (30.23%) and parenchyma (11.27%). Mental abuse accounted for 24.41%. 14 cases resulted in death (16.27%). 55 (64%) of the abusers were illiterate or with poor education.CONCLUSION:The abused sites mostly involved skin and parenchyma, but also caused harm to children's mental health, even causing deaths. Most abused children were female and abusers had lower cultural background. Thus, we need to provide a sounding board, to work on child abuse preventin.