Hepatitis after sevoflurane exposure in an infant suffering from primary hyperoxaluria type 1

An 11-mo-old child with primary hyperoxaluria was scheduled for a nephroureteromia procedure. Anesthesia was induced and maintained with sevoflurane. Two days after the operation, a hepatomegaly was diagnosed, and a considerable increase in liver enzymes was observed. These pathologic findings disappeared without treatment within 7 days. In a subsequent operation 2 wk later, general anesthesia was performed (sevoflurane was avoided). After the second operation, no pathologic findings could be detected. Nothing in this patient's disease or the conduct of the anesthesia suggested a cause for the injury other than an idiosyncratic response to sevoflurane.     

Familial hypomagnesemia-hypercalciuria in 2 siblings

Familial hypomagnesemia-hypercalciuria with nephrocalcinosis and renal insufficiency in childhood is a rarely described disease. Two siblings of consanguineous Tunesian parents (first cousins), a 2-year-old boy and a 4-year-old girl presented with renal insufficiency and severe bilateral nephrocalcinosis. Both were found to have decreased serum and intracellular magnesium concentrations, increased urinary excretion of magnesium and calcium, mild glomerular and severe tubular proteinuria and low citrate excretion in urine. Pathological biochemical findings and the severity of nephrocalcinosis of the boy compared to findings of the sister were strongly marked, Histology of the boy's kidney showed severe medullary nephrocalcinosis, tubular atrophy, focal lymphoplasmacellulary infiltration, focal cortical fibrosis, immature glomerula, segmental and global glomerulosclerosis. Subsequent mutation analysis revealed a homozygous frameshift mutation in the gene paracellin-1 in both affected individuals. Therapy consisted of sodium bicarbonate, cholecalciferol, calcitriol, hydrochlorothiazide, citrate salts and oral magnesium administration. Hypercalciuria decreased in both children by therapy with thiazide diuretics, but hypomagnesemia was unresponsive to magnesium administration. After a 32-month follow-up the boy commenced hemodialysis at the age of 5 years, whereas his sister showed no decline in renal function.     

Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids

We report biochemical data on a child with MSUD who underwent peritoneal dialysis for severe metabolic imbalance. In confirmation of earlier data, the BCKA/BCAA ratios in blood had been found to be fairly stable in this patient during long-term dietary therapy.The child became comatose at comparatively low levels of leucine and KICA (ca. 2 mM each). At this time the blood/cerebrospinal fluid ratio for BCAA's and BCKA's was markedly diminished. During peritoneal dialysis, peritoneal clearance was highest for KIVA, but less for MEVA and BCAA's (40–50% or urea clearance), and least for the allegedly most toxic metabolite, KICA. The differences for BCKA's may be due to their differential protein binding. Given these individual differences, 1.8 to 8.7 initial plasma volumes were cleared in 14h with 24.21 of dialysis fluid. In the same time, urinary excretion of BCAA's and BCKA's was much less efficient.The data are discussed with regard to the pathobiochemical significance of high tissue levels of branched chain acids. A quantitative comparison between peritoneal dialysis and exchange transfusion is not yet possible.Abbreviations BCAA's branched-chain -amino acids - BCKA's branched-chain -keto acids - KICA -keto-isocaproic acid - KIVA -keto-isovalerio acid - MEVA -keto--methyl-n-valeric acid - MSUD maple syrup urine disease With support of the Landesamt für Forschung des Ministeriums für Wissenschaft und Forschung des Landes Nordrhein-Westfalen. U.L. was supported by Deutsche Forschungsgemeinschaft, Bad Godesberg, G.F.R. (DFG La 201, Schwerpunkt Biochemische Humangenetik and SFB 33 Nervensystem und biologische Information)     

Prospective electrocardiography-triggered CT angiography of the great thoracic vessels in infants and toddlers with congenital heart disease: feasibility and image quality

PurposeTo investigate feasibility and image quality and to calculate radiation dose estimates for computed tomography angiography (CTA) of the great thoracic vessels in infants and toddlers with congenital heart disease (CHD) using end-systolic prospective electrocardiography-triggered sequential dual-source data acquisition.MethodsThis study was institutional review board approved; informed consent was obtained. Twenty children (age 1.2 ± 1.1 years) underwent 22 prospective ECG-triggered sequential dual-source CTA examinations (Somatom Definition, Siemens) with tube current (250 mAs/rot) centered at 250 ms past the R-peak in the cardiac cycle (end-systole). Tube voltage was set to 80 kV. Image quality was evaluated by two readers independently using a four-point grading scale (4 = excellent, 1 = non-diagnostic). Radiation dose estimates were calculated from the dose-length-product (DLP).ResultsAll CT images showed diagnostic image quality (mean score 3.67 ± 0.67, κ = 0.85). Stair-step artifacts were present in one and breathing artifacts in 4 patients, with neither impairing diagnostic image quality. Mean heart rate (bpm) was 107.6 ± 12.1 (76–130), mean heart rate variability (bpm) was 2.5 ± 2.0 (1–9). Mean scan length (mm) was 90.7 ± 22.7 (50–134). Mean estimated effective dose was 0.32 ± 0.11 mSv.ConclusionProspective ECG-triggered sequential dual source CTA is feasible in infants and toddlers with CHD, thereby allowing almost motion-free imaging of the great thoracic vessels with the benefit of a low radiation dose.     

我国胫骨远端骨折经MIPPO与切开复位内固定治疗的系统评价

目的：系统评价我国小切口复位内固定术（MIPPO）与切开复位内固定治疗胫骨远端骨折的疗效与安全性。方法计算机检索中国知网（CNKI：2003年9月-2013年5月）、万方数据库（2003年9月-2013年5月）、维普数据库（2003年9月-2013年5月）,中国生物医学数据库及超星电子图书。手工检索国内近五年来发表于《中华骨科杂志》、《中国矫形外科杂志》及《临床骨科杂志》等各骨科杂志及相关杂志的相关文献。收集所有相关 MIPPO与切开复位内固定治疗胫骨远端骨折的随机对照试验及半随机对照试验,采用 Cochrane协作网提供的软件 RevMan5．0进行系统评价。结果共纳入12篇随机对照试验及半随机对照试验,共733例患者,纳入研究质量评价结果为 B级10篇,C级2篇。系统评价结果显示,与切开复位内固定组相比,MIPPO 组术中失血量少[SMD＝-4．46,95％CI（-5．87,-3．05）,P ＜0．05];骨折愈合时间短[SMD＝-1．54,95％CI（-2．02,-1．06）,P＜0．05];术后优良率高[RR＝1．22,95％CI（1．13,1．32）,P ＜0．05],但两组手术时间比较差异无统计学意义。结论采用 MIPPO术治疗胫骨远端骨折具有明显的优势,值得临床推广。但由于该系统评价尚存在一定的局限性,故需要大量严格的、大样本量的、多中心性的,并且采用正确的随机、盲法、分配隐藏以及对失访与退出的患者进行正确的意向性分析（ITT分析）等文献研究来进一步论证。     

Mannose binding lectin and C3 act as recognition molecules for infectious agents in the vagina

In our study we examined the early complement components in patients with bacterial vaginosis (BV), vulvovaginal candidiasis (VVC) and in healthy controls. The levels of C1q, mannose-binding lectin (MBL) and C3 were measured by ELISA in the cervicovaginal lavage (CVL) from gynaecological patients and controls. No significant differences were observed in the levels of these proteins in the three study groups. Immunofluorescence analysis of the clue cells and Candida hyphae from BV and VVC patients for surface-bound complement components showed the presence of C3, while C1q was undetectable. MBL was revealed on clue cells but not on Candida. Binding of MBL to Candida, grown or cytocentrifuged from the CVL of VVC patients, was found to be pH dependent and occurred between pH 4.5 and pH 5.5. In conclusion, we demonstrated that MBL and C3 present in the vaginal cavity act as recognition molecules for infectious agents that colonize the cervicovaginal mucosa. Our finding that MBL, but not C1q, binds to bacteria and fungi in vagina suggests that the lectin and classical pathways of complement activation may play a different role in immune defence in the female genital tract.     

再发性低血糖对幼鼠脑内GLUT1及GLUT3表达的影响

目的观察再发性低血糖后脑内葡萄糖转运蛋白1(glucose transporter 1,GLUT1)及葡萄糖转运蛋白3(GLUT3)表达的变化,从而探讨无症状低血糖的发生机制。方法将80只15日龄野生型小鼠随机分为正常对照组及低血糖组,每组40只。低血糖组给予正规胰岛素腹腔注射3次,每次剂量为5U/kg,对照组注射等体积生理盐水。两组分别在最后1次注射后12、24、48及72 h处死小鼠取脑组织(每组每时间点10只),应用免疫组化方法观察小鼠脑内GLUT1及GLUT3表达的变化。结果低血糖后脑内微血管上GLUT1表达有增加趋势,皮质增加高于海马,72 h皮质GLUT1表达显著高于对照组;低血糖后48、72 h皮质及海马GLUT3表达均显著高于相应对照组。结论再发性低血糖后脑内GLUT1及GLUT3适应性增高,这种适应既能节省神经元的能量代谢,但也能削减神经元对低血糖的反应。