儿童先天性脊柱侧凸合并泌尿系畸形临床分析

目的了解儿童先天性脊柱侧凸合并泌尿系畸形的发生情况,分析并总结其临床特点。方法回顾性分析本院2005年12月至2016年6月收治的75例第一诊断为先天性脊柱侧凸患儿的临床资料,其中男性40例,女性35例,平均首诊年龄4岁5个月。结果 75例患儿中,先天性脊柱侧凸合并肾脏畸形50例(孤立肾22例,异位肾9例,马蹄肾7例,重肾8例,异位融合3例,分支状肾盂1例),隐睾8例,尿道下裂9例,其他泌尿系异常10例(4例泌尿系结石,1例双侧输尿管囊肿,2例双肾积水,1例神经源性膀胱,1例脐尿管囊肿,1例遗尿)。首次住院前仅4例完成尿道下裂修复手术,l例接受输尿管切开取石手术。所有病例行脊柱矫形手术时均未对泌尿系畸形进行手术干预。本组病例脊柱侧凸矫正顺利,效果满意。脊柱矫形术后随访3个月至10年1个月,平均6年3个月。结论先天性脊柱侧凸合并泌尿系畸形较常见,细致的体格检查、腹部B超,结合脊柱CT筛查能尽早发现,针对性随访及处理泌尿系畸形,改善患儿远期预后。     

小儿先天性H型气管食管瘘的诊断与治疗

目的总结先天性H型气管食管瘘的诊治经验。方法收集本院近10年来收治的8例先天性H型气管食管瘘患儿临床资料,其中男性5例,女性3例,通过食管造影确诊5例,胸部CT±气道重建确诊1例,纤维支气管镜确诊1例,瘘管切断缝合术6例。结果 8例均手术治疗痊愈,1例术后第4天出现气胸、纵隔气肿,经保守治疗痊愈。随访3个月至9年,1例术后1个月复发,经再次手术治疗痊愈。结论先天性H型气管食管瘘诊断困难,对临床表现可疑者可通过多种检查方式获得诊断,瘘管切断缝合术可取得良好的治疗效果。     

Segmentation and volumetric analysis of the caudate nucleus in Alzheimer's disease

Objectives

A quantitative volumetric analysis of caudate nucleus can provide valuable information in early diagnosis and prognosis of patients with Alzheimer's diseases (AD). Purpose of the study is to estimate the volume of segmented caudate nucleus from MR images and to correlate the variation in the segmented volume with respect to the total brain volume. We have also tried to evaluate the caudate nucleus atrophy with the age related atrophy of white matter (WM), gray matter (GM) and cerebrospinal fluid (CSF) in a group of Alzheimer's disease patients.

Methods

3D fast low angle shot (3D FLASH) brain MR images of 15 AD patients, 15 normal volunteers and 15 patients who had normally diagnosed MR images were included in the study. Brain tissue and caudate nuclei were segmented using the statistical parametric mapping package and a semi-automatic tool, respectively and the volumes were estimated. Volume of segmented caudate nucleus is correlated with respect to the total brain volume. Further, the caudate nucleus atrophy is estimated with the age related atrophy of WM, GM and CSF in a group of AD patients.

Results

Significant reduction in the caudate volume of AD patients was observed compared to that of the normal volunteers. Statistical analysis also showed significant variation in the volume of GM and CSF of AD patients. Among the patients who had normal appearing brain, 33% showed significant changes in the caudate volume. We hypothesize that these changes can be considered as an indication of early AD.

Conclusion

The method of volumetric analysis of brain structures is simple and effective way of early diagnosis of neurological disorders like Alzheimer's disease. We have illustrated this with the observed changes in the volume of caudate nucleus in a group of patients. A detailed study with more subjects will be useful in correlating these results for early diagnosis of AD.     

细胞增殖法检测rhCNTF生物活性方法的建立和验证

建立检测rhCNTF生物活性的TF-1.CN5a.l细胞增殖法(简称细胞增殖法),并用该法检测不同浓度的CNTF1和CNTF2,确定样品的检测范围;不同时间重复检测样品CNTF4,证明细胞检测法的重复性。检测国际标准品CNTF、CNTF3、其它细胞因子及CNTF冻干保护液对TF-1.CN5a.l细胞的增殖效应,验证细胞检测法的专属性。实验结果显示,CNTF的有效检测范围为40～0.001 ng/mL;CNTF4的活性均值为1.42×106IU/mg;rhCNTF、NGF与TF-1.CN5a.1细胞存在明显量效关系,而其它细胞因子则不存在量效关系,但NGF与CNTF是不同性质的细胞因子。细胞增殖法有较好的重复性和专属性,该法能很好地应用于rhCNTF的生物活性测定。     

The neurodegenerative process in a neurotoxic rat model and in patients with Huntington's disease: histopathological parallels and differences

Although Huntington's disease (HD) occurs only in humans, the use of animal models is crucial for HD research. New genetic models may provide novel insights into HD pathogenesis, but their relevance to human HD is problematic, particularly owing to a lower number of typically degenerated and dying striatal neurons and consequent insignificant reactive gliosis. Hence, neurotoxin-induced animal models are widely used for histopathological studies. Unlike in humans, the neurodegenerative process (NDP) of the HD phenotype develops very fast after the application of quinolinic acid (QA). For that reason, we compared three groups of rats in more advanced stages (1–12 months) of the QA lesion with 3 representative HD cases of varying length and grade. The outcomes of our long-term histological study indicate that significant parallels may be drawn between HD autopsies and QA-lesioned rat brains (particularly between post-lesional months 3 and 9) in relation to (1) the progression of morphological changes related to the neuronal degeneration, primarily the rarefaction of neuropil affecting the density as well as the character of synapses, resulting in severe striatal atrophy and (2) the participation of oligodendrocytes in reparative gliosis. Conversely, the development and character of reactive astrogliosis is principally conditioned by the severity of striatal NDP in the context of neuron–glia relationship. Despite the above-described differences, morphological patterns in which the components of striatal parenchyma react to the progression of NDP are similar in both human and rat brains. Our study specifies the possibilities of interpreting the morphological findings gained from the QA-induced animal model of HD in relation to HD post-mortem specimens.     

Copy number aberrations in combined hepatocellular carcinoma and cholangiocarcinoma

Combined hepatocellular carcinoma and cholangiocarcinoma (CHC) is a rare liver cancer which shares unequivocal features of both hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC). A greater awareness of genetic relationship between HCC and CC components is limited. To help characterize this rare liver neoplasm, we described clinicopathologic features and evaluated copy number (CN) changes in this study. A total of 13 cases of CHC were collected. Four paired HCC and CC components from four cases were first subject to genome-wide analysis. Nine target genes were subsequently selected for further analysis using quantitative polymerase chain reaction. The paired HCC and CC components in each case had a concordant trend of CN gain or loss in these nine genes. However, the magnitude of concordant CN gain or loss was different. There were significant differences of CN copies between HCC and CC in each case. We demonstrate genetic divergence between HCC and CC components in CHC.     

44例小儿重复肾的诊治分析

目的探讨小儿重复肾的诊断方法和手术技巧,以提高其诊治水平。方法回顾性分析2006年9月至2011年10月经作者手术治疗的44例重复。肾患儿临床资料,其中男性10例,女性34例,年龄1个月至13岁,平均年龄2．2岁。均采用B超、MRU、IVU等相结合的方法进行诊断。均行重复肾及所属输尿管切除术。结果44例患儿术中诊断与术前相符,均经手术治疗痊愈出院。42例获随访,随访时间7个月至5年,3例出现输尿管残端综合征,经手术切除输尿管残端后治愈。1例术后出现残肾断面漏尿,经肾周引流管流出,术后6d漏尿停止,B超检查无肾周积液,拔除引流管后康复出院。其余患儿恢复良好。结论B超、IVU、MRU等相结合是诊断小儿重复肾畸形的主要方法,可确诊重复肾;CTU、VCU对诊断有补充作用。手术切除重复肾是治疗重度积水、扩张重复。肾的主要方法,尽量低位切除重复输尿管、完全切除重复肾、保护残留。肾肾盏及所属正常输尿管是手术成功的关键。     

微创经皮肾镜取石术治疗先天性多囊肾结石

【目的】探讨微创经皮肾镜取石术（mPCNL）治疗先天性多囊肾结石的操作技巧及临床应用价值。【方法】多囊肾结石患者21例,均由肾输尿管与膀胱平片（KUB）加经静脉尿路造影（IVU）及CT确诊。单发肾盂结石13例,多发、复杂结石8例（其中鹿角形结石6例）。采用蛛网膜下腔、硬膜外联合阻滞麻醉应用m-PCNI．术治疗,输尿管硬镜下钬激光碎石。【结果】21例均经一次穿刺成功建立通道,平均手术时间80（40～150）min。术中平均出血20（5～40）mL,均未输血。结石一期取净17例（80．1％）,3例经二期取净,1例有0．3cm×0．4cm残石。随访6～24个月,20例结石取净者未见结石复发,1例残石患者结石体积无明显变化。【结论】m—PCNL治疗多囊肾结石效果明显、操作安全、创伤较小,术后并发症少。     

全反式维生素A对Nitrofen诱导的肺发育不良的影响

目的研究全反式维生素A（RA）对Nitrofen诱导的肺发育不良的影响,探讨其对Nitrofen诱导肺发育不良的作用。方法选取正常喂养孕鼠为对照组,以Nitrofen喂养为Nitrofen组,制作胎鼠肺发育不良动物模型,依据胎鼠肺胚芽培养基中是否外源性添加RA,将24份胎鼠肺标本分为对照组、对照＋RA组、Nitrofen组和Nitrofen＋RA组（各6例）。采用图像分析方法分析各组肺胚芽的发育参数面积和周长。结果①对照组与对照＋RA组肺胚芽发育明显比Nitrofen组和Nitrofen＋RA组成熟,培养96h后,可见肺胚芽发育并增殖;Nitrofen组肺胚芽发育差,培养72h后肺胚芽逐渐出现发育停止和坏死;Nitrofen＋RA组肺胚芽发育明显改善。②培养96h后,对照组与对照＋RA组相比,肺面积（2．535±0．423）mm2vs（2．088±0．622）mm2,周长（6．544±0．710）mm vs（6．593±1．133）mm,差异均无统计学意义（P〉0．05）;Nitrofen＋RA组肺面积比Nitrofen组明显增多,为（1．867±0．032）mm2vs（1．053±0．033）mm2,差异有统计学意义（P〈0．05）,而周长比较,无统计学意义（P=0．53）,为（6．237±0．581）mmvs（4．862±0．458）mm;对照组和对照＋RA组分别与Nitrofen组相比,肺面积及周长均有统计学意义（P〈0．05）。结论在胚胎发育早期Nitrofen可导致肺发育不良,RA能明显改善Nitrofen诱导的肺发育不良。     

先天性胆管扩张症患者血清酶分析

目的探讨先天性胆管扩张症的血清酶变化。方法抽取43例先天性胆管扩张症患者的静脉血化验总胆红素、丙氨酸氨基转移酶、天门冬氨酸氨基转移酶、碱性磷酸酶、r-谷氨酰转移酶。结果病人静脉血的总胆红素、丙氨酸氨基转移酶、天门冬氨酸氨基转移酶、碱性磷酸酶、卜谷氨酰转移酶的平均值均高于正常值。3岁以下组的总胆红素、r-谷氨酰转移酶明显高于3岁以上组（P〈0．05）,3岁以下组的丙氨酸氨基转移酶、天门冬氨酸氨基转移酶、碱性磷酸酶也高于3岁以上组,但无统计学意义（P〉0．05）。结论先天性胆管扩张症的血清酶谱均高于正常值,表明肝脏有损害,3岁以下组的肝损害大于3岁以上组。