先天性马蹄内翻足合并同侧小腿远端环状束带的治疗

目的 探讨先天性马蹄内翻足合并小腿环状束带的治疗方法。方法对7例患儿共12足进行手术治疗，马蹄内翻足的矫冶均采用改良Turco手术，根据环状束带的严重程度确定手术方法。结果Ⅰ期手术治疗4例共7足，5足临床效果满意；伤口皮肤裂开2足，并且出现足畸形反弹。分期手术3例共5足．1例双足畸形先行马蹄内翻足矫冶，结果出现束带部位伤口裂开，足的矫正效果回弹；另3足先行环状束带松解，2足临床效果满意，1足尚未行Ⅱ期马蹄内翻足矫治。结论对于Ⅰ型和Ⅱ型环状束带可Ⅰ期手术冶疗，手术后应进行高压氧治疗；Ⅲ型环状束带应该分期手术，先进行环状束带松解，再进行马蹄内翻足矫治。     

尿液AQP2在先天性肾积水患儿中的检测和意义

目的研究单侧先天性肾盂输尿管连接处梗阻（pyeloureteric junction obstruction，PUJO）肾积水患儿尿液水通道蛋白2（Aquaporins-2，AQP2）测定在肾脏浓缩功能评价中的意义。方法选取12例正常儿童，26例单侧先天性PUJO肾积水患儿，其中轻度14例，重度12例，均经彩超、静脉。肾盂造影证实，并排除其它泌尿系统疾病；在严格设定条件下，收集正常对照组术前和梗阻解除术后第3天患肾24h尿液，同时收集术中。肾盂尿液，测定尿渗透压，并用酶联免疫吸附法（ELISA）测定尿液中AQP2。结果与正常对照组比较，积水组术中尿液AQP2和尿渗透压明显下降（P〈0．05），且重度积水组术中尿液AQP2与轻度积水组相比，明显降低（P〈0．05），但重度积水组和轻度积水组术中尿渗透压相比无显著差异（P〉0．05）；梗阻解除后，轻、重度积水组术中尿液AQP2与术后第3天相比，无显著差异（P〉0．05），而术后第3天两组尿渗透压却明显下降／P〈0．05），术后第3天重度积水组与轻度积水组尿液AQP2和尿渗透压相比较，显著下降（P〈0．05）；正常对照组与轻、重度积水组术后第3天尿液AQP2和尿渗透压之间存在一定相关性。结论小儿单侧先天性PUJO尿液AQP2和尿渗透压较正常对照组显著降低，且二者之间存在一定相关性。尿液中AQP2下降可能和尿液浓缩功能改变有关。     

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.     

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。     

The prefrontal cortico-oculomotor trajectories in the monkey: A possible explanation for the effects of stimulation/lesion experiments on eye movement

Prefrontal corticofugal systems, as studied with anterograde HRP histochemistry, revealed projections to preoculomotor and oculomotor centers in the diencephalon and brainstem which may underlie direct cortical influence on eye movement. Because of the location of these preoculomotor trajectories, stimulation and lesion experiments affecting ocular motility may be explained by having involved prefrontal projections which have their origin in sulcus principalis or prearcuate area 8 (frontal eye field) cortex.     

Reduced duration of a visual motion aftereffect in congenital nystagmus

Congenital nystagmus (CN) is a primarily horizontal, involuntary, conjugate eye movement which can be observed soon after birth or during the first half-year of life. Individuals with CN rarely complain of oscillopsia. Using a motion aftereffect (MAE), we investigated if individuals with CN have abnormalities in motion perception and if any such abnormality could be due to nystagmus or to compensatory mechanisms to avoid oscillopsia. In task A, patients (n= 10) and control subjects (n= 10) indicated the direction, duration and relative velocity of MAEs. The subjects binocularly viewed a high contrast, grey scale grating (0.23 cyc/deg; visual angle: 18.3 deg) moving upward or downward at 1, 3, and 6 deg/sec for 60 sec. Vertical optokinetic nystagmus (OKN) was monitored. In task B, patients (n=8) and control subjects (n=8) viewed similar spatial frequency gratings (visual angle: 40.7 degs; 0.5, 0.2, 0.08 cyc/deg) which moved at 4, 10, and 16 deg/sec for 60 sec. In task C, five control subjects, with induced vestibular nystagmus, viewed a grating (0.2 cyc/deg; visual acuity: 28.5 deg), moving upward for 40 sec. In all three tasks, after adaptation with the moving grating, subjects viewed the then static grating and reported the duration and direction of the MAE. One CN patient and eight control subjects reported MABs at all three test velocities in task A. When patients exhibited OKN, the gain was close to one, as in the control group. In task B, seven of the eight patients and all of the control subjects had MABs at the faster adaptation velocities. CN patients had less MAEs at an adaptation velocity of 4 deg/sec and when MAEs were observed, the duration of the illusory motion was reduced by approximately 48%. Control subjects, with induced vestibular nystagmus, reported MAEs at 4 deg/sec (task C). These findings indicate that nystagmus cannot be the only factor accounting for the suppression of motion perception and suggest that compensatory mechanisms used to avoid oscillopsia contribute to the differences found between the groups. This revised version was published online in July 2006 with corrections to the Cover Date.     

先天性胆管扩张症并发症的处理探讨

目的探讨先天性胆管扩张症并发症的预防和处理，提高治愈率。方法同顾性分析22例小儿胆管扩张症严重并发症的原因及防治措施，包括术前并发症11例，术中并发症4例，术后并发症7例。结果手术18例，其他治疗4例。7例治愈，10例好转，待再做根治术，5例死亡、结论早期诊断、及时恰当的治疗，是防范胆管扩张症并发症和手术成功的关键。     

Correlates of lithium response in psychotic-affective syndromes

We examined clinical and biochemical predictors of lithium response in 17 schizoaffective patients as well as the effect of lithium treatment upon several aminergic systems in this group. Ten patients were rated improved by the addition of lithium to the treatment regimen. No clinical predictors reached significance although DSM-III diagnosis and family history showed trends. Pretreatment plasma GABA was higher in the responders to lithium as compared to the nonresponders. Lithium tended to increase CSF HVA, CSF GABA, and plasma cAMP and to decrease plasma GABA. Lithium had little effect upon CSF 5HIAA, CSF cAMP, or plasma HVA.