先天性胆管扩张症血清微量元素的检测及分析

微量元素与人类健康的关系十分密切。微量元素在临床医学和预防医学领域的重要作用正越来越引起人们的关注。我们于１９８９年１１月至１９９６年１０月对６６例先天性胆管扩张症患儿血清铜、锌、铁、钙、镁含量进行了测量,现报告如下。１　资料与方法１１　研究对象　６６例先天性胆管扩张症患儿,男１６例,女５０例,年龄４３天至１４岁,平均４６岁。４例行外引流术,１７例行囊肿切除和肝总管十二指肠吻合术,４５例行囊肿切除肝总管空肠Ｒｏｕｘ－Ｙ吻合术。１２　研究方法　６６例患儿术前及术后１周（梗阻解除,胆红素浓度明…     

Mycoplasma hominis endocarditis in a child with a complex congenital heart defect

We report a case of a 4-year-old girl with a complex congenital heart defect who developed Mycoplasma endocarditis after surgical repair. This is the first reported case of Mycoplasma endocarditis in a child and suggests consideration of this organism as a cause of culture-negative endocarditis.     

Magnetocardiographic localization of ventricular pre-excitation in a child with a congenital heart defect

Magnetocardiographic mapping was performed on a 2-year-old boy who suffered from the Wolff-Parkinson-White syndrome in association with a complex congenital heart defect. The pre-excitation site was determined noninvasively from the measured cardiac magnetic fields. The location was in the same anatomic region as found by intraoperative epicardial mapping. This result shows that magnetocardiography can be helpful for determining an accessory pathway also in patients with grossly abnormal cardiac anatomy.     

Pre-sternal mass with a congenital sternal defect: a rare presentation

Anterior chest wall and anterior mediastinal infections are very rare in children with no predisposing thoracic surgery. Congenital sternal defects occur as a result of incomplete ossification of the sternal bone, and show a wide range of severity. We present the case of a 15-month-old boy who presented to the A&E department with an anterior chest-wall mass. After investigation, it was found to be an infective mass, with extension into the anterior mediastinum, through a previously undiagnosed 5 mm congenital sternal defect identified peri-operatively. After antibiotic therapy and surgical management the patient made complete recovery with no recurrence or complications within 6 months of review.     

孕期重金属元素和微量元素水平与子代先天性心脏病相关性的前瞻性队列研究北大核心CSCD

目的探讨孕期重金属元素和微量元素水平与子代先天性心脏病(简称先心病)的相关性,并建立孕期重金属元素和微量元素水平与子代先心病发生概率的预测模型。方法基于2010~2012年在甘肃省妇幼保健院开展的前瞻性出生队列研究,采用巢式病例对照研究方法,对14359名孕妇进行随访观察,以随访观察期内其子代确诊先心病的97名孕妇为先心病组,从队列人群中以1∶2的比例匹配194名子代未患先心病的孕妇为对照组。采用电感耦合等离子体质谱测定孕母孕20~24周时血液样本和胎儿脐血样本中的重金属元素和微量元素水平。采用多因素logistic回归分析评估重金属元素和微量元素水平与子代先心病之间的关联,并构建孕期重金属元素和微量元素水平与子代先心病发生概率的列线图预测模型。结果与对照组相比,先心病组孕妇血液样本中铝(aluminium,Al)、钠(natrium,Na)、钙(calcium,Ca)、钛(titanium,Ti)、硒(selenium,Se)、锶(strontium,Sr)、锡(stannum,Sn)、锑(stibium,Sb)、钡(barium,Ba)、钍(thorium,Th)水平较高,差异有统计学意义(P<0.05);先心病组脐血样本中Al、锌(zinc,Zn)、镁(magnesium,Mg)、钾(kalium,K)、Ca、Ti、铬(chromium,Cr)、铜(copper,Cu)、砷(arsenic,As)、Se、Sr、银(argentum,Ag)、镉(cadmium,Cd)、Sn、铅(plumbum,Pb)水平显著高于对照组(P<0.05)。多因素logistic回归分析显示,孕妇血液样本中Sb水平升高,其子代患先心病的风险显著增加(^(a)OR=4.81,P=0.004);而在脐血样本中,高浓度水平的Al(^(a)OR=4.22,P=0.013)、Mg(^(a)OR=8.00,P=0.014)、Pb(^(a)OR=3.82,P=0.049)与先心病的发生风险增加存在关联。孕期重金属元素和微量元素水平与子代先心病的预测模型中纳入的变量有:孕妇血Al、Th、Sb水平和脐血Al、Mg、Pb水平,绘制的列线图预测模型的校正曲线趋近于理想曲线。结论孕期Al、Th、Sb、Mg、Pb水平升高提示子代罹患先心病的风险增加,联合以上指标构建的列线图预测模型可以预测子代先心病的发生概率。     

佝偻病患儿血清微量元素水平测定及相关分析

目的：人体内某些微量元素与儿童佝偻病的发病密切相关,该文探讨佝偻病患儿体内微量元素(钙、锌、铜、镁、铅)变化及其水平与佝偻病的相互关系。方法：选择46例佝偻病患儿和68例正常儿童采用火焰原子吸收法测定血清钙(Ca)、锌(Zn)、铜(Cu)和镁(Mg),采用石墨炉原子吸收法测定血清铅(Pb)。结果：佝偻病患儿血钙和血锌水平低于正常对照组,血铜和血铅高于正常对照组,差异均有显著性意义;血镁稍高于正常对照组,但两组之间差异无显著性。相关分析显示,佝偻病与血钙和血锌水平呈负相关(r=-0.538,P<0.01;r=-0.316,P<0.05),与血铅水平呈正相关(r=0.253,P<0.05),佝偻病患儿血钙与血锌呈正相关(r=0.523,P<0.01),与血镁、血铅呈负相关(r=-0.231,P<0.05;r=-0.367,P<0.05)。结论：该组检测结果提示低锌和高铅可能参与了佝偻病的发病及骨骼改变;对于佝偻病正规治疗效果不显著者,应注意检查血锌和血铅水平。     

Monomeric calcitonin secretion in infants with congenital hypothyroidism

We have determined CT levels in whole serum (iCT) and by an extraction method (exCT) in 25 infants affected by congenital hypothyroidism (CH)--11 athyreotic and 14 dysgenetic--at age 25 days, before the institution of therapy, and at age 2 years. In hypothyroid patients at age 25 days the iCT and exCT levels were similar to those found in controls of the same age. At age 2 years the iCT and exCT levels decreased in both groups of patients. However, whereas the levels of iCT in hypothyroids were similar to those found in controls of the same age, the levels of exCT were significantly lower in hypothyroids than in controls; moreover they were significantly lower in athyreotic than in dysgenetic patients. At this age, after calcium infusion, exCT levels significantly increased in dysgenetic but not in athyreotic patients. We hypothesize that CT deficiency in CH is due to increased degradation of human CT by the substitutive therapy, which, stimulating proteolytic enzymes, destroys the biologic activity of CT. An extraction procedure improves the sensitivity and specificity of the CT assay and it must be used when CT deficiency is suspected. In addition we suggest that the measurement of exCT levels after Ca infusion might be useful to distinguish dysgenetic from athyreotic patients.     

缺铁性贫血大鼠学习记忆能力的变化及其与脑组织中微量元素的关系

目的　观察缺铁性贫血对大鼠学习记忆能力的影响及其与脑组织中 7种微量元素的关系。方法　应用低铁饮食 (含铁量为 11 9mg/kg的饲料 )建立缺铁性贫血大鼠模型 ,用MG 2型三等分辐射式迷宫检测大鼠的学习记忆能力 ,用三电极等离子体原子发射直读光谱仪测定脑组织中 7种微量元素的含量。结果　缺铁性贫血大鼠在迷宫测验时达标所需反应次数 [(72± 9)次 ]较对照组[(5 0± 9)次 ]显著增加 (P <0 0 1) ;正确反应率 [(5 9± 5 ) % ]较对照组 [(6 6± 9) % ]显著降低 (P <0 0 5 ) ,2 4h后复测仍有相似结果 ,表明缺铁性贫血大鼠学习记忆能力显著降低。脑组织中铁、锌含量[(13 7± 3 5 ) μg/g湿组织、(8 6± 2 1) μg/g湿组织 ]明显低于对照组 [(2 6 1± 2 7) μg/g湿组织、(11 3± 0 9) μg/g湿组织 ,P <0 0 1],锰、镉含量 [(0 5 6± 0 12 ) μg/g湿组织、(0 0 8± 0 0 4) μg/g湿组织 ]明显高于对照组 [(0 46± 0 0 8) μg/g湿组织、(0 0 5± 0 0 1) μg/g湿组织 ,P <0 0 5 ]。 结论　缺铁性贫血大鼠的学习记忆能力降低与其脑组织微量元素的变化有关。     

Repair of a large congenital frontal bone defect with autologous exchange cranioplasty

The authors report the case of a large idiopathic frontal bone defect and concomitant sagittal synostosis corrected by autologous exchange cranioplasty by using a corticocancellous bone graft and cranial vault expansion. An otherwise healthy, developmentally normal 6-year-old girl presented to our clinic with a large frontal bone defect. The osseous defect was midline and inferior to the coronal sutures, and the underlying dura was slightly tense. She had no signs or symptoms of increased intracranial pressure, and her head circumference and cephalic index were normal. Imaging demonstrated fusion of the sagittal synostosis. The defect was repaired using full-thickness autologous bone harvested from the bilateral parietal regions, which were widened using barrel-stave osteotomies to reduce pressure on the graft site in the setting of sagittal synostosis and mild cranial narrowing. The donor sites were covered with autologous particulate bone graft harvested from the endocortical surface of the grafted segments and the ectocortical surface of the intact parietal bones. The donor and recipient sites healed. Imaging revealed that the particulate bone healed with a thickness similar to the surrounding bone. This bony defect is analogous to parietal foramina and may have a similar etiopathogenesis. The technique of autologous exchange cranioplasty using corticocancellous particulate bone graft provides a simple and reliable method to repair large structural calvarial defects.     

Investigation of the transport of trace elements across barriers in humans: studies of placental and mammary transfer

The barrier function of the human mammary gland for selected trace elements was evaluated by analysing 27 maternal sera and corresponding colostrum samples for 14 trace elements. To investigate the impact of the human placenta at the end of gestation on the transfer of 17 trace elements from the mother to the baby, 29 maternal and corresponding umbilical cord sera (UCS) were studied. The uptake of trace elements from the UCS by the fetus was investigated in nine pairs of arterial and venous UCS. In colostrum, the concentration of Cu was 19%, of Se 47%, of Co 80%, of Mg 146%, of Ca 222%, of Sn 228%, of Mn 275%, of Mo 814%, and of Zn 1470% of that of the maternal sera. For Cd and Pb the corresponding values were 200% and 325%, respectively. These data show that the mammary gland can exert an activating as well as an inhibiting effect on the trace element transfer. A concentration gradient mode of action for the transfer of Li, Mo and Sr could be found. In UCS the concentration of Cu was 20%, of Se 55%, of Co 60%, of Sn 85%, of Mo 100%, of Mg 105%, of Ca 120%, of Zn 148%, and of Mn 150% of that of the maternal sera. The corresponding values for Cd were 66% and for Pb 50%. Conclusions: These findings indicate that the placenta can exhibit an activation or inhibition on transfer as well as a gradient mode of action as for Mo, Cs, Li and Sr. The uptake of essential trace elements from venous UCS by the unborn ranged from 2.5% for Ca to 16.7% for Mo. Both the placenta and the mammary gland can exert an activating, inhibiting or gradient mode of action for selected trace elements, the biological impact of which needs to be further elucidated.     

Molecular defect of spectrin in the family of a child with congenital hemolytic poikilocytic anemia

We present the study of a black family in which the proband suffered from a severe neonatal hemolytic anemia with poikilocytosis. Both the parents, sister's, and brother's proband were clinically normal. The presence of poikilocytes in proband led to a search for a red cell membrane skeleton defect. Owing to recent improvements in the erythrocyte membrane knowledge, it is now possible to approach the diagnosis by means of biochemical evaluation of both parents, even if they are asymptomatic. So, the first time discovery of a spectrin self-association defect in both parents allowed us to suspect double inheritance of this abnormality in the proband. A complete morphological and biochemical evaluation of the family allowed us to propound the diagnosis of heterozygous type I hereditary elliptocytosis (HE) for both parents and the sister and the diagnosis of homozygous type I HE for the proband owing to the following reasons: slight ovalocytosis was present in both parents and the sister; cell deformability ektacytometric studies gave the same profiles of curve as those observed in patients with HE. Defective spectrin dimer self-association found in both parents was also observed in the sister and proband, associated with the same abnormal spectrin digest pattern, namely a decrease in the amount of a 80,000-dalton peptide and a corresponding increase in a 74,000-dalton peptide. However, clinical presentation of the proband was consistent either with hereditary pyropoikilocytosis or homozygous hereditary elliptocytosis; erythrocyte thermal sensitivity studies in the proband could not be conclusive because of the presence of transfused cells. Both these diagnoses are discussed in detail.(ABSTRACT TRUNCATED AT 250 WORDS)     

先天性心脏病重度肺动脉高压性质的综合评价

目的探讨先天性心脏病（简称先心病）合并重度肺动脉高压患儿器质性肺动脉高压（简称肺高压）的诊断标准。方法３７例经手术治疗后早期肺动脉压力降至正常的患儿作为动力性肺高压组；７例经手术治疗后仍持续性肺动脉高压及６例临床诊断为器质性肺高压而未予手术的共１３例患儿作为器质性肺高压组，对比两组心导管检查血液动力学指标。结果两组肺血管阻力、肺小动脉楔压、肺循环血流量与体循环血流量之比（Ｑｐ／Ｑｓ）及降主动脉血氧饱和度（ＳａＯ２）差异均有显著意义，如按年龄大于２岁、肺动脉阻力＞７２ｋＰａ·ｓ－１·Ｌ－１（９Ｗｏｏｄ单位）、肺小动脉楔压≤１．６ｋＰａ（１２ｍｍＨｇ）、Ｑｐ／Ｑｓ＜２和动脉血氧饱和度＜０．９０作为临床诊断器质性肺高压的指标，则本组动力性肺高压组仅有５．４％的患儿符合上述指标３项或３项以上，而器质性肺高压组所有病例均符合上述指标３项或３项以上。结论先心病合并重度肺动脉高压存在上述５项指标中３项或３项以上，高度提示患儿存在器质性肺动脉高压     

单纯疱疹病毒感染新生儿血液微量元素的变化

目的 探讨单纯疱疹病毒感染的新生儿血液中微量元素含量的变化.方法 采用电感耦合等离子体原子发射光谱ICP-AES法测定单纯疱疹病毒感染的新生儿与健康新生儿血液中微量元素的含量.结果 单纯疱疹病毒感染组血清锌、镁、铁、钙均低于正常,全血铅、血清铜均高于正常.结论 单纯疱疹病毒感染时,新生儿血液微量元素存在一定的失衡,与感染所造成的机体伤害有一定的关系,因此需要及时补充和调理微量元素,对疾病的治疗和恢复有重要意义.     

Chronic hypernatremia from a congenital defect in osmoregulation of thirst and vasopressin

An infant with microcephaly and delayed development was found to have chronic asymptomatic hypernatremia. Computerized brain tomography disclosed dysplasia of the midline structures, septum pellucidum and corpus collosum. Evaluation revealed defective osmoregulation, hypothalamic hypothyroidism, and hypogonadotropinism. He showed no desire to drink at plasma osmolalities over 330 mOsm/kg. His plasma vasopressin levels (less than or equal to 1.4 pg/ml) were inappropriately low relative to his high levels of plasma osmolality (greater than or equal to 310 mOsm/kg), which might be accounted for by either deficient neurohypophyseal vasopressin stores or disturbance of the hypothalamic osmoreceptors governing vasopressin. The first possibility was ruled out by demonstrating normal vasopressin response (167 pg/ml) to nonosmotic (emetic) stimulation. Under baseline conditions, his urine was concentrated up to 747 mOsm/kg and urine volume was low. With water loading, maximal water diuresis developed (urine osmolality 68 mOsm/kg), but his plasma osmolality remained in the hyperosmolar range (312 mOsm/kg). Treatment with a vasopressin analogue, desamino-D-arginine vasopressin, and forced hydration restored plasma osmolality and plasma sodium to normal. These findings indicate a severe defect in the hypothalamic osmoreceptors controlling thirst and vasopressin secretion with normal vasopressin stores and preserved vasopressin responsiveness to nonosmotic stimuli. To our knowledge, this report provides the first documentation of selective osmoreceptor defect in conjunction with congenital dysplasia of midline brain structures.