Glutaric aciduria type I

Summary Serial CT findings in an infant with glutaric aciduria type I (GA-I) are reported. The major CT features were dilatation of the insular cisterns, regression of the temporal lobes, with bat wings dilatation of the Sylvian fissures and hypodensity of the lenticular nuclei. CT changes preceded the onset of symptoms by 3 months. An improvement in the temporal lobe atrophy was seen after a period of treatment, coinciding with marked clinical improvement. A peculiar feature was the presence of external hydrocephalus, which diverted the attention from manifestations of the primary disease and thus consitituted a diagnostic pitfall. The delineation and recognition of the characteristic radiologic manifestations of GA-I are essential for allowing an adequate radiologist/clinican interaction in diagnosing this inborn error of metabolism.     

Diagnosis of cerebral Whipple's disease by cerebrospinal fluid cytology

Summary In a case of Whipple's disease the diagnosis was made by careful cytologic evaluation of the cerebrospinal fluid (CSF), identifying Sieracki cells. A basal granuloma invaded the hypothalamus, diencephalon, and rostral parts of the brainstem. An exploration in the initial stage led to misdiagnosis as a granular cell tumor. Diagnosis was then confirmed by intestinal biopsy.

---

Zusammenfassung Es wird über einen Fall mit Morbus Whipple berichtet, der bei sorgfältiger Untersuchung des Liquor cerebrospinalis durch den Nachweis von Sieracki-Zellen diagnostiziert wurde. Die Exploration eines basalen Granuloms, das in den Hypothalamus, das Diencephalon und die rostralen Anteile des Hirnstamms eingewachsen war, hatte im Frühstadium zur Fehlinterpretation eines Granularzelltumors geführt. Die Diagnose wurde schließlich durch Dünndarmbiopsie bestätigt.

     

Alteration of basal ganglia evoked responses by reserpine and L-Dopa

The effects of reserpine and L-Dopa on basal ganglia evoked potentials were investigated in cats. The caudate response resulting from substantia nigra stimulation and the substantia nigra response elicited by globus pallidus stimulation were increased at several hours after the systemic administration of reserpine. L-Dopa in the presence of dopa decarboxylase inhibition (MK-486) depressed these responses and reversed the effect of reserpine at 0.5 h after administration. Reserpine did not reverse the L-Dopa effect. Reserpine and L-Dopa caused no significant change in responses between other basal ganglia structures. These data give evidence that the basal ganglia are major sites for reserpine and L-Dopa action.     

MRI in tick-borne encephalitis

The tick-borne encephalitis (TBE) virus gives rise to epidemic encephalitis. Mild forms usually manifest as influenza-like episodes or are clinically silent. MRI is usually normal in TBE. We describe severe TBE in a patient who presented with fever and altered mental status after a tick bite and a specific antibody response to TBE. MRI revealed pronounced signal abnormalities in the basal ganglia and thalamus, without contrast enhancement. These findings coincide well with neuropathological studies of severe nerve cell degeneration with inflammatory cell infiltrates, neuronophagia and reactive astrocytosis in the deep grey matter. We review the literature and discuss the relevant differential diagnosis. Received: 10 November 1999/Accepted: 4 February 2000     

Chronological changes in nonhaemorrhagic brain Infarcts with short T1 in the cerebellum and basal ganglia

Our purpose was to investigate nonhaemorrhagic infarcts with a short T1 in the cerebellum and basal ganglia. We carried out repeat MRI on 12 patients with infarcts in the cerebellum or basal ganglia with a short T1. Cerebellar cortical lesions showed high signal on T1-weighted spin-echo images beginning at 2 weeks, which became prominent from 3 weeks to 2 months, and persisted for as long as 14 months after the ictus. The basal ganglia lesions demonstrated slightly high signal from a week after the ictus, which became more intense thereafter. Signal intensity began to fade gradually after 2 months. High signal could be seen at the periphery until 5 months, and then disappeared, while low or isointense signal, seen in the central portion from day 20, persisted thereafter. Received: 1 February 1999 Accepted: 13 September 1999     

儿科加强医疗病房全身炎症反应综合征和多器官功能不全综合征的临床分析

目的应用新概念———全身炎症反应综合征（ＳＩＲＳ）和多器官功能不全综合征（ＭＯＤＳ）认识多器官功能衰竭（ＭＯＦ）。方法回顾性总结分析１９９５年１月～１９９７年１２月我院儿科加强监护病房收治的危重患儿，根据Ｈａｙｄｅｎ修订的ＳＩＲＳ诊断标准和全国小儿急诊学组拟定的ＭＯＦ诊断标准进行临床分析。结果全组３０４例患儿，符合ＳＩＲＳ标准２５２例，占８２．９％．原发病有感染性疾病和非感染性疾病。在ＳＩＲＳ和ＭＯＤＳ病程发展过程中部分患儿出现一过性肝、肾、胃肠道和脑等器官功能受损的表现，最终进展为ＭＯＤＳ共６５例，占２５．８％。ＭＯＤＳ的病死率为４３．１％（２８／６５）。发生ＭＯＤＳ的高危因素为入院危重评分＜７５分，明显高代谢反应和合并Ｃ反应蛋白，而与年龄无明显关系。结论ＳＩＲＳ和ＭＯＤＳ是小儿加强医疗病房中常见病症，病死率较高。ＳＩＲＳ和急诊学组制定的ＭＯＦ诊断标准简单实用，但应根据美国胸科协会和危重病医学会倡议将ＭＯＦ更名为ＭＯＤＳ。ＳＩＲＳ和ＭＯＤＳ进展至器官功能衰竭前存在器官功能受损的表现，应予高度重视并早期干预。     

Targeted Gene Transfer for Adenocarcinoma Using a Combination of Tumor-specific Antibody and Tissue-specific Promoter

We have developed a highly specific gene transfer method for adenocarcinoma using a monoclonal antibody against tumor-specific antigen coupled with a plasmid containing the carcinoembryonic antigen (CEA)-specific promoter. The chimeric CEA promoter (CC promoter), which contained an enhancer from the immediate early gene of cytomegalovirus and the CEA promoter, achieved 4- to 5-fold higher transgene expression in CEA-producing cells than the original CEA promoter while maintaining CEA specificity. Furthermore, a complex of a monoclonal antibody against Lewis Y antigen (LYA), the CC promoter-containing plasmid and cationic liposomes (DOTAP) achieved specific gene expression in CEA-producing and LYA-positive adenocarcinoma cell lines that was 200-fold more efficient than in CEA-non-producing and LYA-negative cell lines during a short in vitro incubation. This strategy may be applicable for clinical gene therapy.     

ANTI-TUMOR ACTIVITY AND IMMUNE RESPONSES INDUCED BY HUMAN CANCER-ASSOCIATED MUCIN CORE PEPTIDE

ＡＮＴＩＴＵＭＯＲＡＣＴＩＶＩＴＹＡＮＤＩＭＭＵＮＥＲＥＳＰＯＮＳＥＳＩＮＤＵＣＥＤＢＹＨＵＭＡＮＣＡＮＣＥＲＡＳＳＯＣＩＡＴＥＤＭＵＣＩＮＣＯＲＥＰＥＰＴＩＤＥ１ＭａＹｕｎｇｕｏ马运国ＹｕａｎＭｅｉ袁玫ＦｅｉＬｉｈｕａ费丽华ＬｉＬｉ李力Ｃａｎｃ...     

辐射诱导Egr-1调控腺病毒介导Smad 7基因对Lewis肺癌生物学行为影响的在体研究

目的研究射线诱导下Egr-1基因启动子调控腺病毒介导的Smad 7基因在C57BL/6J小鼠Lewis肺癌原发病灶内表达后，对原发灶及远处肺转移发生的影响。方法将Egr-1基因启动子的辐射敏感元件和Smad 7 cDNA包装到复制缺陷型腺病毒内，制备成AD．Egr-Smad 7。接种Lewis肺癌细胞于小鼠右后肢外侧，建立荷瘤小鼠模型，肿瘤直径达0．8～1．0cm时进行实验。小鼠被随机分人空白对照、生理盐水（NS）XCN、AD．Egr-Smad 7对照、单纯照射、NS＋照射、AD．Egr-Smad 7＋照射组（6只／组），分别进行如下研究：（1）隔日记录肿瘤长径及短径，观察肿瘤生长曲线、生长延迟时间及小鼠生存时间；（2）观察肿瘤照射2周时肺转移发生情况；（3）观察肿瘤生长至照射时4倍体积时肺转移发生情况。结果放射线诱导Egr-1基因启动子调控腺病毒介导的Smad7基因在C57BL小鼠Lewis肺癌原发病灶内表达后，有抑制原发肿瘤生长及延长小鼠生存时间的作用（P〈0．05），对肿瘤远处肺转移的发生无明显影响（P〉0．05）。结论放射线诱导AD．Egr-Smad7无促进小鼠Lewis肺癌肿瘤局部病灶发展及远处脏器转移的危险性，并且有抑制原发肿瘤生长及延长生存时间的作用。将AD．Egr-Smad7用于阻断TGF-β信号传导通路，靶向性基因治疗放射性肺纤维化具有一定的安全性。     

人内皮抑素在毕赤酵母中的组成型表达及其活性检测

为获得大量具有生物学活性的重组人内皮抑素(Endostatin),在毕赤酵母中进行组成型表达的研究。将由毕赤酵母偏爱密码子组成的Endostatin cDNA插入组成型载体pGAPZαA中,构建表达载体pGAPZαA-ENDO,并转化到毕赤酵母X-33中。重组菌株在甘油醛-3-磷酸脱氢酶(GAP)启动子的调控作用下,进行组成型表达Endostatin蛋白。重组人Endostatin产量达到102mg/L。Western blot显示:表达蛋白能与兔抗Endostatin的多克隆抗体特异性结合。纯化后的重组Endostatin具有抑制人血管内皮细胞系ECV-304细胞增殖的活性。利用毕赤酵母组成型表达系统能获得大量具有生物活性的Endostatin蛋白。