单绒毛膜双羊膜囊三胎妊娠围生期管理及结局分析

目的探讨单绒毛膜双羊膜囊(MCDA)三胎妊娠的围生期管理及其围生结局。 方法采用回顾性分析方法,收集2012年1月至2017年9月于四川大学华西第二医院产科分娩的4例MCDA三胎妊娠孕妇的一般临床资料,包括孕妇年龄、产妇类型、受孕情况、产前检查情况,并收集其妊娠结局,包括分娩方式、围生儿结局及围生儿死亡率。同时,于4例MCDA三胎妊娠孕妇分娩后,进行胎盘及脐带检查,以进一步明确MCDA诊断及脐带缠绕情况。 结果本组4例MCDA三胎妊娠孕妇的年龄为20～28岁,均为自然受孕的初产妇。其中,在本院接受定期产前检查的孕妇为2例(No.1、No.2孕妇),MCDA三胎诊断时,其孕龄分别为13^＋4、18^＋5孕周,并且分别于32^＋3、32^＋5孕周时采取剖宫产术分别分娩3例女活婴,共计6例女活婴,随访结果显示这6例新生儿均生长发育良好。另外2例孕妇(No.3、No.4孕妇)均因未足月胎膜早破(PPROM),分别于孕龄为28、21^＋3孕周时急诊转入本院。这2例孕妇孕期均未接受正规产前检查,均于产时确诊为MCDA三胎妊娠。其中,No.3孕妇因母体因素于孕龄为28^＋3孕周时采取剖宫产术终止妊娠,娩出3例男活胎,这3例新生儿分别于出生后6 d(1例)、23 d(2例)死亡。No.4孕妇于孕龄为21^＋3孕周时发生PPROM,1例胎儿入院前流产死亡(单独羊膜囊内胎儿),入院后另外2例胎儿随即流产死亡(1例合并唇腭裂、1例为无心畸胎)。本组MCDA三胎妊娠孕妇的围生儿死亡率为11.1%(1/9)。对本组4例MCDA三胎妊娠孕妇进行产后胎盘及脐带检查的结果均证实MCDA三胎的诊断,而且No.1、2、3孕妇三胎中处于同一羊膜囊内的双胎,均存在脐带缠绕、打结。 结论MCDA三胎妊娠十分罕见,为取得较好的围生结局,对其围生期管理宜早期诊断、定期规律产前检查、严密监护,完善产前保健,并与孕妇本人及其家属进行充分的病情沟通。     

湖北某特殊学校52例耳聋患儿耳聋基因检测结果分析

目的 对某特殊学校耳聋患者进行聋病易感基因GJB2、GJB3、SLC26A4和线粒体DNA4(mtDNA)个基因13个位点的筛查,并与该地区正常儿童进行比对,了解其突变基因与位点。方法 2017年3-9月采集52例耳聋患儿与1 131例正常儿童的外周血,提取基因组DNA,应用遗传性耳聋基因芯片检测试剂盒对GJB2、SLC26A4、mtDNA及GJB3基因的13个突变位点进行检测。结果 52例耳聋学生中18例(34.63%)突变携带者,携带不同突变基因。GJB2基因突变13例(25.00%),其中纯合突变3例(5.77%),单杂合突变6例(11.54%),复合杂合突变4例(7.69%)。SLC26A4基因突变3例(5.77％),其中纯合突变2例(3.85%),单杂合突变1例(1.92％);mtDNA基因突变2例(3.85％),均为1555A>G均质突变;未检测到GJB3基因突变。而1 131例正常儿童中125例(11.05%)突变携带者,携带不同突变基因。GJB2基因突变79例(6.99%),SLC26A4基因突变35例(3.09％),mtDNA基因突变11例(0.97％),未检测到GJB3基因突变。耳聋患儿与正常儿童耳聋基因检测分布差异有统计学意义(χ²=25.98,P<0.001)。结论 该聋哑学校耳聋突变热点基因以GJB2和SLC26A4为主,且GJB2 235delC(19.23％)是最常见突变位点,耳聋基因检测为减少出生缺陷提供了依据。     

全身亚低温治疗对缺氧缺血性脑病新生儿内环境的影响

目的 观察全身亚低温治疗新生儿缺氧缺血性脑病(hypoxic ischemic encephalopathy,HIE)对内环境的影响,为临床治疗提供参考依据。 方法 将本院收治的29例HIE患儿随机分为治疗组(15例)和对照组(14例),对照组采用常规治疗,治疗组在常规治疗的基础上结合全身亚低温治疗。所有患儿于入院后0、72 h检测血电解质、肝功能、肾功能和心肌酶谱、血气分析。 结果 两组患儿入院时两组患儿血电解质、肝肾心功能、PH值及BE浓度差异均无统计学意义。入院后72 h治疗组Ca²⁺、Na⁺浓度均高于对照组,CK-MB浓度低于对照组,差异有统计学意义(P<0.05);两组患儿Cl^-、K⁺、ALT、AST、BUN、Cr、BE浓度及PH值比较差异均无统计学意义(P>0.05)。 结论 亚低温治疗能改善患儿的低钙血症、低钠血症,未加重肝肾功能损害、酸碱平衡紊乱,且可能对受损心肌有一定的保护作用。     

尿源性脓毒症患儿的临床特点分析

目的探讨尿源性脓毒症患儿的临床特点。 方法选择2017年1月至2018年6月，在四川大学华西第二医院住院治疗的51例尿源性脓毒症患儿为研究对象，并纳入研究组。按照1∶2的比例，采用Microsoft Excel 2016随机抽取功能，抽取同期在本院住院治疗的102例非尿源性脓毒症患儿纳入对照组。收集2组患儿的一般临床资料、实验室检查指标、脏器功能损害及预后情况。采用独立样本t检验，对2组患儿的血小板计数(PLT)、纤维蛋白原(Fib)和红细胞沉降率(ESR)等进行统计学分析。采用Mann-Whitney U秩和检验，对2组患儿的白细胞计数(WBC)、血红蛋白(Hb)、丙氨酸转移酶(ALT)、天冬氨酸氨基转移酶(AST)、白蛋白、总胆红素(TB)、乳酸脱氢酶(LDH)、肌酐、血尿素氮(BUN)、血糖、D-二聚体(DDI)、纤维蛋白原降解物(FDP)、N端脑钠肽(NTBNP)、肌钙蛋白I (cTnI)、血清pH值与乳酸，以及血清Na^＋、K^＋、Ca^2＋及Cl^－等进行统计分析。采用χ²检验或者连续性校正χ²检验，对2组患儿的性别构成比、儿科重症监护病房(PICU)转入率、病死率等计数资料进行统计分析。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。2组患儿性别构成比比较，差异无统计学意义(P>0.05)。 结果①研究组患儿中位年龄为6个月(4～12个月)，小于对照组的10个月(5～24个月)，差异有统计学意义(Z＝－2.660，P＝0.008)。②研究组患儿的WBC及CRP水平分别为17.4×10⁹/L[(11.8～26.6)×10⁹/L]和120 mg/L(87～160 mg/L)，均明显高于对照组的12.0×10⁹/L[(5.0～17.6)×10⁹/L]和48 mg/L(20～135 mg/L)，2组比较，差异均有统计学意义(Z＝－4.145、－4.465，P均<0.001)。研究组患儿WBC>15×10⁹/L及CRP>40 mg/L所占比例，分别为62.7%(32/51)和90.2%(46/51)，均高于对照组的38.2%(39/102)和55.9%(57/102)，组间比较，差异均有统计学意义(χ²＝8.212、18.197，P＝0.004、<0.001)。③研究组患儿的PLT、血清Ca^2＋、Fib和pH值分别为(344.1±148.7)×10⁹/L，2.36 mmol/L (2.29～2.49 mmol/L)，(492.0±185.1)mg/dL和7.4(7.4～7.5)，均高于对照组的(271.2±147.5)×10⁹/L，2.21 mmol/L (0.08～2.39 mmol/L)，(346.0±165.8)mg/dL和7.4(7.3～7.4)，组间比较，差异均有统计学意义(t＝—2.871，P＝0.005；Z＝－4.002，P＝0.992；t＝－3.639，P<0.001；Z＝－2.108，P＝0.035)。研究组患儿的AST、LDH、DDI和cTnI水平分别为35.0 U/L(25.8～44.2 U/L)，534.5 U/L(471.5～649.5 U/L)，1.1 mg/L(0.5～2.2 mg/L)，0.01 μg/L(0.01～0.01 μg/L)，均低于对照组的46.5 U/L(46.0～87.2 U/L)，673.0 U/L(535.0～1 106.0 U/L)，2.5 mg/L(1.2～4.0 mg/L)和0.01 μg/L(0.01～0.04 μg/L)，组间比较，差异均有统计学意义(Z＝－4.130、3.851、－2.175、－3.716，P均<0.05)。④研究组患儿中，需要呼吸支持治疗、动脉血氧分压(PaO₂)/吸入氧气分数(FiO₂)<300 mmHg、部分凝血活酶时间(APTT)延长>10 s、PLT<150×10⁹/L、cTnI升高、AST>100 U/L、有神经系统症状者、血清Ca^2＋<2.1 mmol/L所占比例，分别为11.8%(6/51)、3.9%(2/51)、8.0%(2/25)、7.8%(4/51)、3.7%(1/27)、6.0%(3/50)、29.4%(15/51)、6.1%(3/49)，均低于对照组的47.1%(48/102)、27.5%(28/102)、35.3%(24/68)、20.6%(21/102)、34.4%(22/64)、25.5%(26/102)、61.8(63/102)和27.6%(27/98)，2组比较，差异均有统计学意义(χ²＝18.545、11.941、6.761、4.040、9.458、8.255、14.241、9.235，P均<0.05)。⑤研究组51例患儿中，49例(96.1%，49/51)尿常规检查结果可见不同数量白细胞及脓细胞，另外2例患儿多次尿常规及尿培养试验均无异常，但是腹部CT检查结果提示肾脓肿。⑥研究组患儿PICU转入率和病死率，均显著低于对照组，并且差异均有统计学意义(χ²＝17.480、6.142，P均<0.05)。 结论尿源性脓毒症患儿常伴明显白细胞及CRP升高，脏器功能损害较轻，总体预后较好。对伴有明显炎症指标升高，而脏器损害较轻的尿源性脓毒症患儿，可完善清洁中段小便分析，必要时进行尿培养试验及泌尿道超声、CT等检查，对确定感染源有重大意义。     

新生儿化脓性脑膜炎脑脊液酸碱平衡与电解质变化的研究

目的 分析化脓性脑膜炎新生儿脑脊液电解质、酸碱平衡的临床意义。方法 收集521医院新生儿科2013年1月—2017年6月,确诊为化脓性脑膜炎的患儿44例作为观察组,以同时期收治的未患颅内感染性疾病的患儿40例为对照组,对所有患儿进行脑脊液电解质、气体分析测定。观察组临床治愈后再复测。结果 1)观察组治疗前脑脊液PCO₂、HCO^-₃、BE、乳酸(Lac)、Cl^-与对照组相比差异有统计学意义(P＜0.05),而K⁺、Na⁺、Ca²⁺差异无统计学意义(P＞0.05);2)观察组治疗前与临床治愈后脑脊液pH、PCO₂、HCO^-₃、BE、Lac、Cl^-差异有统计学意义(P＜0.05),而K⁺、Na⁺、Ca²⁺差异无统计学意义(P＞0.05);3)观察组脑脊液的pH、PCO₂、Lac同动脉血上述酸碱变量之间存在相关性。结论 化脓性脑膜炎患儿存在脑脊液酸碱失衡及Cl^-的减低,脑脊液气体分析、Cl^-测定可作为诊断、评价治疗效果的直接客观指标。     

四川省部分地区43例高苯丙氨酸血症患儿相关基因突变分析

目的 了解四川省部分地区高苯丙氨酸血症(HPA)患儿基因突变情况,构建本地区HPA相关基因突变谱,为患儿基因诊断、产前诊断及遗传咨询提供依据。方法 采用第二代测序技术对43例HPA患儿的PAH、PTS、QDPR、PCBD1、SPR及GCH1基因进行分析。结果 检出PAH基因突变35例,PTS基因突变8例。占前3位的PAH高频突变为p.R243Q、p.R241C及p.Ex6-96A>G,高频突变的区域为第7外显子,包含了28个突变(39.4%)。p.G272V未见报道。PTS基因的高频突变位点为p.P87S、p.Y27Rfs*8、p.D96N及p.V56M,高频突变区域为第5外显子,包含了8个突变(50.0%)。p.T58R未见报道。结论 本研究初步构建了四川省部分地区HPA相关基因的突变谱,在PAH和PTS基因上各发现1个新突变,为本地区HPA患儿的基因诊断和遗传咨询提供了依据。     

新生儿缺血缺氧性脑病细胞免疫功能和生长抑素检测

【目的】 探讨新生儿缺氧缺血性脑病(hypoxic-ischemic encephalopathy,HIE)患儿外周血生长抑素(somatostatin,SS)水平的变化及其与细胞免疫功能的关系。 【方法】 HIE新生儿50例血SS水平及T淋巴细胞亚群、IL-2、sIL-2R和IL-6分别采用放射免疫分析法、APAAP法和双抗体夹心ELISA法进行检测。并分析两者相关性。 【结果】 HIE患儿血SS水平明显高于对照组(P<0.01),其细胞免疫功能显示sIL-2R水平明显升高(P<0.01),而CD3⁺、CD4⁺百分率、CD4⁺/CD8⁺比值、IL-2及IL-6水平明显降低(P均<0.01)。HIE患儿血SS的变化与CD3⁺、CD4⁺百分率、CD4⁺/CD8⁺比值、IL-2及IL-6水平呈显著负相关(P均<0.01),与sIL-2R呈显著正相关(P<0.01)。 【结论】 HIE患儿血SS水平升高与HIE存在密切相关,且其变化与机体细胞免疫功能存在非常明显的相关性。     

四川省部分地区43例高苯丙氨酸血症患儿相关基因突变分析

目的 了解四川省部分地区高苯丙氨酸血症(HPA)患儿基因突变情况,构建本地区HPA相关基因突变谱,为患儿基因诊断、产前诊断及遗传咨询提供依据。方法 采用第二代测序技术对43例HPA患儿的PAH、PTS、QDPR、PCBD1、SPR及GCH1基因进行分析。结果 检出PAH基因突变35例,PTS基因突变8例。占前3位的PAH高频突变为p.R243Q、p.R241C及p.Ex6-96A>G,高频突变的区域为第7外显子,包含了28个突变(39.4%)。p.G272V未见报道。PTS基因的高频突变位点为p.P87S、p.Y27Rfs*8、p.D96N及p.V56M,高频突变区域为第5外显子,包含了8个突变(50.0%)。p.T58R未见报道。结论 本研究初步构建了四川省部分地区HPA相关基因的突变谱,在PAH和PTS基因上各发现1个新突变,为本地区HPA患儿的基因诊断和遗传咨询提供了依据。     

NIPBL基因突变致德朗热综合征临床表现和遗传学研究分析

目的 对我国NIPBL基因突变的德朗热综合征(Cornelia de Lange syndrome, CdLS)1型患儿进行基因型和表现型分析。方法 以知网、万方、PubMed数据库为文献来源,检索建库至2022年9月发表的相关文献。本研究共纳入41例CdLS1型患者,其中1例来自四川省妇幼保健院儿科个案报道,其余40例均来自文献综述。回顾性分析这41例CdLS1型患者的基因型与表现型特征。结果 我国CdLS1型患者临床表现主要为特殊颅面畸形100.0%(41/41)、肢体畸形100.0%(41/41)、智力障碍100.0%(21/21)、矮小症97.1%(33/34),偶有先天性心脏病(5例)、肾囊肿(3例)、隐睾(2例)、腭裂(2例)、癫痫(2例)等表现,尚无合并先天性膈疝病例报道。诊断年龄为生后胎儿期至12岁,产前诊断6.1%(2/33),新生儿期诊断30.3%(10/33)。本研究CdLS1型患儿中移码突变26.8%(11/41)、剪切突变24.4%(10/41)、错义突变22.0%(9/41)、无义突变22.0%(9/41),CdLS1患者基因型与表现型比较结果差异无统计学意...     

急诊科呼吸困难患儿预后影响因素的临床研究

目的探讨急诊科呼吸困难患儿预后影响因素。 方法采用回顾性分析方法对2013年10月至2014年10月因呼吸困难于四川大学华西第二医院急诊科抢救室救治的364例病历资料完整的患儿进行分析。其中,男性患儿为230例(63.2%),女性为134例(36.8%);年龄为1个月至13岁,中位年龄为7个月。结合小儿死亡危险(PRISM)Ⅲ评分、相关参考文献及急诊科常用生化检测指标,选取性别、年龄、是否进行有创通气、是否合并先天性疾病、是否入住儿科重症监护病房(PICU)、心率、血红蛋白水平、血细胞比容、血Ca^2＋水平、血清白蛋白水平、动脉血pH值、经皮脉搏血氧饱和度(SpO₂)、动脉血氧饱和度(SaO₂)、动脉二氧化碳分压(PaCO₂)、动脉血氧分压(PaO₂)、血乳酸水平及剩余碱水平等共计17个指标,作为可能影响急诊科呼吸困难患儿预后的影响因素。详细记录上述17个指标情况及患儿主要诊断与预后情况。对不同影响因素下急诊科呼吸困难患儿预后不良发生率进行统计学比较。再根据上述比较中有统计学意义的因素,并结合已有研究结果及专业知识,选择影响急诊科呼吸困难患儿预后相关因素进行非条件多因素logistic回归分析。本研究遵循的程序符合四川大学华西第二医院人体试验委员会制定的伦理学标准,得到该委员会批准。 结果①进行有创通气、入住PICU、合并先天性疾病,以及血Ca^2＋水平、SpO₂、PaO₂及剩余碱水平异常患儿的预后不良发生率(38.4%、30.8%、30.8%、23.7%、34.7%、31.7%、23.3%),显著高于未进行有创通气、未入住PICU、未合并先天性疾病,以及血Ca^2＋水平、SpO₂、PaO₂及剩余碱水平正常患儿(13.1%、11.9%、11.9%、12.1%、15.6%、16.4%、13.9%),并且差异均有统计学意义(χ²＝25.161、19.456、19.456、8.255、10.463、5.736、5.338,P<0.05)。不同性别、年龄,以及心率、动脉血pH值、血红蛋白水平、血细胞比容、血清白蛋白水平、SaO₂、PaCO₂及血乳酸水平是否异常患儿的预后不良发生率比较,差异均无统计学意义(P>0.05)。②对急诊科呼吸困难患儿预后影响因素的非条件多因素logistic回归分析结果显示,是否进行有创通气、是否入住PICU、是否合并先天性疾病、血Ca^2＋水平及SpO₂,为影响急诊科呼吸困难患儿预后的独立危险因素(OR＝2.521、2.260、3.867、1.992、2.225,95% CI：1.244～5.109、1.112～4.594、2.122～7.045、1.068～3.719、1.059～4.677,P＝0.010、0.024、0.000、0.030、0.035)。 结论对于急诊科呼吸困难患儿,急诊科医师应高度重视患儿是否合并先天性疾病、是否进行有创通气、是否入住PICU、血Ca^2＋水平及SpO₂等危险因素,这对呼吸困难患儿在急诊科的临床诊治具有指导意义。     

Maternal vitamin D status during pregnancy and child outcomes

OBJECTIVE: To investigate whether exposure to high maternal concentrations of 25(OH)-vitamin D in pregnancy poses any risk to the child. DESIGN: Prospective study. SETTING: Princess Anne Maternity Hospital, Southampton, UK. SUBJECTS: A group of 596 pregnant women were recruited. A total of 466 (78%) children were examined at birth, 440 (74%) at age 9 months and 178 (30%) at age 9 years. METHODS: Maternal 25 (OH)-vitamin D concentrations were measured in late pregnancy. Anthropometry of the child was recorded at birth, 9 months and 9 years. At 9 months, atopic eczema was assessed. At 9 years, children had an echocardiogram and a dual energy x-ray absorptiometry scan, blood pressure, arterial compliance and carotid intima-media thickness were measured and intelligence and psychological function assessed. RESULTS: There were no associations between maternal 25(OH)-vitamin D concentrations and the child's body size or measures of the child's intelligence, psychological health or cardiovascular system. Children whose mothers had a 25(OH)-vitamin D concentration in pregnancy >75 nmol/l had an increased risk of eczema on examination at 9 months (OR 3.26, 95% CI 1.15-9.29, P=0.025) and asthma at age 9 years (OR 5.40, 95% CI, 1.09-26.65, P=0.038) compared to children whose mothers had a concentration of <30 nmol/l. CONCLUSION: Exposure to maternal concentrations of 25(OH)-vitamin D in pregnancy in excess of 75 nmol/l does not appear to influence the child's intelligence, psychological health or cardiovascular system; there could be an increased risk of atopic disorders, but this needs confirmation in other studies.     

肥胖儿童食欲调节因子基因启动子区DNA甲基化探讨

目的 探讨肥胖儿童瘦素、瘦素受体及促阿片-黑素细胞皮质素原(proopiomelanocortin,POMC)基因启动子区CpG位点的甲基化改变。方法 选取北京酒仙桥地区45例4~6岁单纯性肥胖儿童及按性别、年龄1∶1 配对的45例正常儿童为研究对象。利用外周血提取基因组DNA,然后应用亚硫酸盐修饰直接测序法(BSP)和半巢式PCR检测儿童瘦素基因启动子区(324 bp,-228到+96)25个CpG位点、瘦素受体基因启动子区(271 bp,-411到-141)20个CpG位点及POMC基因启动子区(275 bp,-341到-67)18个CpG位点的甲基化状态;同时采用酶联免疫分析测定血浆瘦素含量。结果 单纯性肥胖儿童血浆瘦素含量(21.24±4.02) μg/L显著高于正常儿童(2.95±0.53) μg/L。肥胖儿童瘦素基因启动子区CpG位点的平均甲基化程度(0.43±0.13)显著低于正常儿童(0.52±0.15);对该启动子区单个CpG位点比较发现,9个位点的甲基化程度在肥胖组低于对照组。瘦素受体基因启动子区各CpG位点在两组儿童中均呈现完全去甲基化状态。POMC基因启动子区各CpG位点甲基化程度在肥胖与正常儿童之间均未见显著差异。结论 肥胖儿童瘦素基因启动子区CpG位点存在甲基化改变,可能与瘦素表达增加、瘦素抵抗发生有关。     

Iron status of inner-city elementary school children: lack of correlation between anemia and iron deficiency

The iron status of 103 inner-city third and fourth graders was evaluated. These children had significantly lower hemoglobin concentrations and significantly higher serum ferritin concentrations than values previously reported. Mean erythrocyte protoporphyrin concentrations agree with previous results whereas mean corpuscular volume was significantly lower than in some previous studies. Though 11 children (10.7%) were anemic, only 1 anemic child had another abnormal measure of iron status. Three children (2.9%) had a low serum ferritin concentration along with another abnormal measure of iron status. Four children (3.9%) had at least two abnormal measurements of iron status without an elevated blood lead concentration. These results agree with recent observations of decreasing rates of anemia in preschool children. The poor utility of hemoglobin measures to identify iron-deficient children suggests the need for alternate screening methods, and the relatively high serum ferritin concentration suggests a trend of rising iron stores in school-age children.     

Comparison of total body chlorine, potassium, and water measurements in children with cystic fibrosis

BACKGROUND: Symptoms of cystic fibrosis (CF) may limit the utility of total body chlorine (TBCl) and total body potassium (TBK) measurements for assessing body fluid compartments of children. OBJECTIVE: This study assessed relations among independent measurements of TBCl, TBK, and total body water (TBW) in children with CF. DESIGN: We compared cross-sectional measurements of TBCl by in vivo neutron activation analysis, TBK by whole-body counting of (40)K, TBW by D(2)O dilution [TBW(D(2)O)], and TBW from TBCl and TBK [TBW(Cl + K)] in 19 prepubertal children (13 boys) aged 7.6-12.5 y who had mild symptoms of CF. Body-composition measurements were compared with data from previous studies of healthy children. RESULTS: Subjects with CF had deficits in TBCl, TBK, TBW, and body weight compared with control reference data (P < 0.05). The ratios (TBCl + TBK)/TBW and TBCl/TBK were not significantly different from control reference values, and plasma chlorine and potassium concentrations were within control reference ranges. The sum of TBCl and TBK correlated with TBW(D(2)O) (r(2) = 0.79, P < 0.001), and TBW(Cl + K) correlated with TBW(D(2)O) (r(2) = 0.78, P < 0.001). TBW(Cl + K) was similar to TBW(D(2)O) (mean +/- SEM: 19.0 +/- 0.5 compared with 19.4 +/- 0.5 L; NS). CONCLUSIONS: Prepubertal children with mild symptoms of CF can develop deficits in TBCl, TBK, and TBW that reflect chronic energy malnutrition. Mild symptoms of CF do not appear to affect normal relations among TBCl, TBK, and TBW. Measurements of TBCl and TBK may be used to assess body fluid compartments in these patients.     

Detection of vitamin A deficiency in Brazilian preschool children using the serum 30-day dose-response test

BACKGROUND: Vitamin A deficiency (VAD) is endemic in Brazil and health professionals have difficulty in recognizing its subclinical form. In addition, serum retinol concentrations do not always represent vitamin A status in the organism. OBJECTIVE: To identify VAD in preschool children by the serum 30-day dose-response test (+S30DR) and to examine its potential as a tool for the assessment of vitamin A status in the community. DESIGN: A prospective transverse study in which blood samples were obtained from 188 preschool children for the determination of serum retinol concentrations and the children were submitted to ocular inspection and anthropometric measurements. Information about the presence of diarrhea and/or fever during the 15 days preceding the study was also obtained. The children received an oral dose of 200,000 IU vitamin A immediately after the first blood collection. A second blood sample was obtained 30-45 days after supplementation in order to determine the +S30DR. RESULTS: In all, 74.5% (140/188; 95% confidence interval: 68.3-80.7%) of the children presented +S30DR values indicative of low hepatic reserves. The mean serum retinol concentration was significantly lower before supplementation (0.92 and 1.65 micromol/l, respectively; P < 0.0001). No child presented xerophthalmia; 3.7% (7/188) of the children were malnourished. The presence of fever and/or diarrhea during the 15 days preceding the first blood collection did not affect the +S30DR value. CONCLUSIONS: The prevalence of VAD in the study group was elevated. +S30DR proved to be a good indicator of subclinical VAD in children from an underdeveloped country.     

病毒性脑炎患儿脑脊液肿瘤坏死因子和β2微球蛋白检测的临床意义

目的通过检测病毒性脑炎患儿脑脊液中肿瘤坏死因子（TNF—α）和β2微球蛋白（β2-MG）的水平变化,探讨它们在病毒性脑炎发病中的临床意义。方法用放射免疫分析法分别测定36例病毒性脑炎患儿急性期脑脊液TNF—α和62-MG的含量,并对其中18例恢复期（急性期治疗1周后）患儿进行追踪复查,同时以非颅内感染患儿20例作为对照组。结果（1）病毒性脑炎患儿急性期脑脊液TNF—α和G2-MG的含量明显高于对照组（P〈0．01）,并且急性期中重型组其含量显著高于轻型组（P〈0．01）。病毒性脑炎恢复期患儿脑脊液中TNF-α和β2-MG的含量显著低于急性期（P〈0．05）。（2）病毒性脑炎患儿急性期脑脊液中TNF-α和β2-MG呈明显的正相关（r=0．347,P〈0．05）,急性期其含量和病程也呈明显的正相关（r1=0．332,r2=0．311,P〈0．05）。结论TNF-α和β2-MG的含量变化反映了儿童病毒性脑炎时炎性反应、脑损伤的严重程度。对脑脊液中TNF—α和β2-MG的检测有助于判断病毒性脑炎患儿的病情和脑损伤程度,可将其作为早期诊断的参考指标,观察其动态变化有助于指导治疗和判断预后。     

The effect of chelation on blood pressure in lead-exposed children: a randomized study

Studies in children suggest a weak association between blood lead concentration and blood pressure. To understand this better, we tested the strength of the association in children with elevated blood lead concentrations and whether succimer chelation changed blood pressure as it did blood lead. In a randomized clinical trial of 780 children with blood lead concentrations of 20-44 microg/dL at 12-33 months of age, we compared the systolic and diastolic blood pressure in the succimer-treated group and placebo group for up to 5 years of follow-up. We also analyzed the relation of blood lead to blood pressure. Children in the succimer group had lower blood lead concentrations for 9-10 months during and after treatment, but their blood pressure did not differ from those in the placebo group during this period. During 1-5 years of follow-up, children in the succimer group had systolic blood pressure 1.09 (95% confidence interval, 0.27-1.90) mmHg higher than did untreated children in a model with repeated measurements, but the difference in diastolic blood pressure was not statistically significant. No association between blood lead and blood pressure was found. Overall, there is no association between blood lead and blood pressure in these children with moderately high lead exposure, nor does chelation with succimer change blood pressure.     

血清β2-微球蛋白、尿微量白蛋白、血清胱抑素C在高血压病早期肾损害诊断的意义

目的观察β2-微球蛋白、尿微量白蛋白、血清胱抑素C检测在高血压早期肾损害诊断中的临床作用。方法用免疫比浊法检测103例高血压和126例健康体检者的尿微量白蛋白、血β2-微球蛋白、血清胱抑素C水平。对检测结果进行统计学分析。结果（1）高血压患者的尿微量白蛋白、血β2-微球蛋白、血清胱抑素C水平均明显高于正常对照组,差异有统计学意义（P〈0．01）。（2）单项检测尿微量白蛋白、血β2-微球蛋白、血清胱抑素C对高血压早期肾损害有较高的临床价值。其中尿微量白蛋白的检测效果稍佳。（3）三者联合检测高血压早期肾损害的灵敏度为98．91％,特异度为97．92％,诊断符合度为98．76％。结论尿微量白蛋白、血β2-微球蛋白、血清胱抑素C对高血压早期肾损害有较好的相关性。三者联合检测高血压早期肾损害有极高的临床价值。     

No adverse effects of lead on renal function in lead-exposed workers

A cross-sectional study was performed on 165 male lead-exposed workers to clarify the quantitative relationships between less severe exposure to lead and its effects on renal function in 1985. Mean and range of blood lead concentration (Pb-B) were 36.5 micrograms/dl and 6-73 micrograms/dl, respectively. Duration of lead exposure was 0.1 to 26.3 years. No lead-related changes were detected in serum creatinine concentration, beta-2 microglobulin in urine, creatinine clearance, beta-2 microglobulin clearance, and uric acid clearance. Twenty of the 165 workers had been exposed to lead for more than 10 years with mean duration of 21.0 years. Average concentrations of Pb-B in each individual during 1972 to 1984 were 26.1-66.6 micrograms/dl. Renal function indices of these 20 workers were not different from those of remaining lead-exposed workers whose lead exposure duration were 10 years or less. These results suggest that long-term less severe exposure to lead up to 70 micrograms/dl of Pb-B may not cause adverse effects on renal glomerular function and proximal tubular function.