Membranous lipodystrophy

Summary The case is described of a 35-year-old housewife diagnosed as having membranous lipodystrophy (as described by Nasu et al. in 1970 and called lipomembranous polycystic osteodysplasia by Hakola in 1972). The main symptom of this patient was a slowly progressive dementia. Skeletal symptoms were not seen. The computerized tomogram of the brain showed calcification of bilateral basal ganglia and the plain roentgenograms of the bones revealed cystic radiolucent areas at the distal end of the bones of the patient's extremities. Histological examination of the curetted material from the right talus revealed a membranocystic pattern. The fatty tissue curetted from the cyst of the talus and the lysosomal enzymes of the white blood cells were biochemically normal. A possible relationship between this disease entity and connective disorders is considered.     

Evolution of changes in neuronal activity in the subthalamic nucleus of rats with unilateral lesion of the substantia nigra assessed by metabolic and electrophysiological measurements

Cellular expression of cytochrome oxidase subunit I (COI) mRNA has recently been used as a metabolic marker for neuronal activity to study the functional changes in the subthalamic nucleus (STN) in parkinsonism. The previous experimental studies have been performed when the pathological state was stabilized at a maximal level. In order to determine the evolution of changes in neuronal activity in the STN after nigrostriatal denervation, we analysed by in situ hybridization the cellular expression of COI mRNA in the subthalamic neurons at different times, from 6 h to 14 days, after unilateral intranigral microinjection of 6-hydroxydopamine (6-OHDA) in rats. In parallel, the time-dependent changes of the unit neuronal activity of subthalamic neurons have been recorded. Levels of COI mRNA increased by 41% in subthalamic neurons from 24 h after 6-OHDA intoxication, to 14 days (+26%). Similarly, electrical activity started to increase slightly 24 h after lesion (+20%) and remained significantly higher at 14 days after the lesion (+189%). Changes in neuronal mean discharge rate were associated with changes in the pattern of spiking activity, from a regular firing pattern to an irregular one with a high bursting activity. These results show that: (i) the hyperactivity of the STN represents a very early phenomenon in the physiopathology of parkinsonian syndromes; and (ii) that changes in COI mRNA expression slightly precede changes in electrical neuronal activity.     

Combined lesions of cholinergic and serotonergic neurons in the rat brain using 192 IgG-saporin and 5,7-dihydroxytryptamine: neurochemical and behavioural characterization

This study assessed behavioural and neurochemical effects of i.c.v. injections of both the cholinergic toxin 192 IgG-saporin (2 microgram) and the serotonergic toxin 5,7-dihydroxytryptamine (5,7-DHT; 150 microgram) in Long-Evans female rats. Dependent behavioural variables were locomotor activity, forced T-maze alternation, beam walking, Morris water-maze (working and reference memory) and radial-maze performances. After killing by microwave irradiation, the concentrations of acetylcholine, monoamines and 5-hydroxyindoleacetic acid (5-HIAA) were measured in the hippocampus, frontoparietal cortex and striatum. 192 IgG-saporin reduced the concentration of acetylcholine by approximately 40% in the frontoparietal cortex and hippocampus, but had no effect in the striatum. 5,7-DHT lesions reduced the concentration of serotonin by 60% in the frontoparietal cortex and 80% in the hippocampus and striatum. Noradrenaline was unchanged in all structures except the ventral hippocampus where it was slightly increased in rats given 192 IgG-saporin. Cholinergic lesions induced severe motor deficits but had no other effect. Serotonergic lesions produced diurnal and nocturnal hyperactivity but had no other effect. Rats with combined lesions were more active than those with only serotonergic lesions, showed motor dysfunctions similar to those found in rats with cholinergic lesions alone, and exhibited impaired performances in the T-maze alternation test, the water-maze working memory test and the radial-maze. Taken together and although cholinergic lesions were not maximal, these data show that 192 IgG-saporin and 5,7-DHT lesions can be combined to selectively damage cholinergic and serotonergic neurons, and confirm that cholinergic-serotonergic interactions play an important role in some aspects of memory, particularly in spatial working memory.     

基底节钙化与急性偏瘫综合征的关系

目的 探讨基底节钙化(BGC)与小儿急性偏瘫综合征(AHS)发病的关系。方法 对34例AHS病例有关，临床资料进行回顾性分析、总结。结果 39．4％AHS患儿有BGC，其中79．8％发病前10d内有明确轻微头部外伤史。临床表现为不同程度的一侧急性偏瘫，部分有惊厥发作，但无意识障碍，颅内压增高不明显。CT扫描显示在一侧或双侧基底节区点或片状钙化，其附近存在类圆形点或片状低密度灶。结论 BGC与外伤后AHS的发生有一定关系，故对年龄小于3岁、外伤后近期有偏瘫或惊厥发作患儿，应注意有BGC的可能。     

Sperm number and condition affect the number of basal cells and their expression of macrophage antigen in the murine epididymis

Unilateral ligation of the mid-corpus epididymis, the proximal vas deferens and imposition of an abdominal temperature for 6 days as well as bilateral castration for 3, 6 or 14 days, resulted in a change in epithelial composition of the adult murine epididymis with regard to the number and antigen expression of basal cells. There were fewer basal cells per tubule cross-section with fewer expressing F4/80 antigen when spermatozoa were absent from the proximal lumen following short-term castration. Conversely, more basal cells with more of them demonstrating macrophage antigen expression were evident when more or damaged spermatozoa were in the proximal lumen after corpus ligation and exposure to abdominal temperature or in the cauda after long-term withdrawal of androgen support. By contrast, ligation of the vas deferens did not lead to tubule distension, and hence sperm accumulation, and did not alter the basal cell population in the cauda epididymis. The data suggest that epididymal basal cells respond in number and macrophage antigen expression to the presence of sperm autoantigens in the lumen with little dependence on circulating androgens. These changes may represent responses to minimise the interaction of sperm autoantigens with the immune system and the risk of immunological infertility.     

Gorlin's syndrome: Diffuse appendicular skeletal involvement with scintigraphic correlation

Gorlin's syndrome (also known as basal cell nevus syndrome, Gorlin?Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal‐cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking skeletal abnormalities. We present the interesting case of a 45‐year‐old woman who was informed that she had fibrous dysplasia of the extremity at another institution before extensive radiological work‐up showed a diffuse skeletal process. The skeletal abnormalities, in conjunction with the patient's history of multiple basal cell carcinomas, is consistent with the diagnosis of Gorlin's syndrome. We describe this unusual case of striking radiological and scintigraphic findings in a patient with Gorlin's syndrome.     

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。     

Two children with xeroderma pigmentosum developing two different types of malignancies simultaneously

Patients with xeroderma pigmentosum (XP) are highly sensitive to ultraviolet radiation and prone to develop multiple skin malignancies. We report two children under 6 years of age with XP who each developed two histologically different types of malignancies simultaneously. We conclude that it is of importance to be aware of the possibility of multiple malignancies of different types, even in young children. Accepted: 16 December 1996     

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.