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61.
Akagi M Inui K Nakajima S Shima M Nishigaki T Muramatsu T Kokubu C Tsukamoto H Sakai N Okada S 《Journal of human genetics》2000,45(1):60-62
Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare autosomal recessive disorder characterized
by hepatorenal glycogen accumulation, Fanconi nephropathy, and impaired utilization of glucose and galactose. Recently, this
disease was elucidated to link mutations in the glucose transporter 2 (GLUT2) gene. Only three mutations in three FBS families have been reported. Therefore, it is important to elucidate mutations in
the GLUT2 gene in FBS by answering the question of whether the syndrome is a single gene disease. In this report, we describe two patients
in two unrelated families clinically diagnosed with FBS. No mutation in the entire protein coding region of the GLUT2 gene was detected in patient 1, which suggested that no mutation existed in the GLUT 2 gene, or that some mutations had affected the expression of the GLUT 2 gene. In patient 2, a novel homozygous nonsense mutation (W420X, Trp at codon 420 to stop codon) was detected. These results
support the correlation between GLTU2 gene mutation and FBS syndrome. However, many patients must be analyzed to determine whether other genes are involved in
FBS.
Received: July 16, 1999 / Accepted: September 3, 1999 相似文献
62.
63.
Yamamoto-Fukuda T Aoki D Hishikawa Y Kobayashi T Takahashi H Koji T 《Laboratory investigation; a journal of technical methods and pathology》2003,83(1):123-136
Middle-ear cholesteatoma is characterized by enhanced proliferation of epithelial cells and granular tissue formation. However, the molecular mechanism underlying these pathological changes is largely unknown. Keratinocyte growth factor (KGF) is a mesenchymal cell-derived paracrine growth factor that specifically stimulates epithelial cell proliferation. In the present study, we investigated the possible involvement of KGF and its receptor, KGFR, in the pathogenesis of cholesteatoma using in situ hybridization and immunohistochemistry, respectively. We examined 56 cholesteatoma specimens, and 8 normal skin areas as control. KGF and KGFR expression was examined by immunohistochemistry using rabbit anti-human KGF and anti-human KGFR polyclonal antisera raised in our laboratories against synthetic peptides corresponding to parts of human KGF and KGFR, respectively. KGF protein and mRNA were detected exclusively in stromal fibroblasts and infiltrating T lymphocytes in 80% of cholesteatoma cases, whereas KGFR protein and mRNA were localized in the epithelium in 72% of cases. Assessment of the proliferative activity of cholesteatoma using the labeling index for Ki-67 showed a significantly higher Ki-67 labeling index (66%) in KGF+/KGFR+ cases than other cases. There was a significant correlation between KGF+/KGFR+ expression and recurrence. Our results indicate the possible involvement of both KGF and KGFR in enhanced epithelial cell proliferative activity and recurrence of cholesteatoma. 相似文献
64.
Human vascular smooth muscle cells and endothelial cells lack catalase activity and are susceptible to hydrogen peroxide 总被引:5,自引:0,他引:5
5Cr release as lytic and cell detachment as nonlytic injury were employed to estimate neutrophil-mediated injury of cultured human vascular smooth muscle cells and endothelial cells. The reagents hydrogen peroxide or hypoxanthine-xanthine oxidase produced dose-dependent killing and nonlytic cell detachment, which were specifically inhibited by catalase but not by superoxide dismutase. The concentration of hydrogen peroxide or xanthine oxidase to induce cell detachment was less than lytic dose, suggesting that cell detachment was a much more sensitive assay of injury. Neutrophil-mediated cell lysis averaged 15% at most and was mostly dependent on hydrogen peroxide, while neutrophil-mediated cell detachment was nearly 100% and its dependency on hydrogen peroxide varied from 46% to 60%. These results suggest that vascular smooth muscle cells and endothelial cells in neutrophil-mediated events are destroyed by a hydrogen peroxide-dependent process, mainly via a nonlytic cell detachment mechanism. There was no striking difference of sensitivity to hydrogen peroxide between vascular smooth muscle cells and endothelial cells. Vascular smooth muscle ceils and endothelial cells contained fairly high concentrations of superoxide dismutase, but not catalase, activity. The sensitivity of these cells to hydrogen peroxide but not to superoxide may arise from the fact that these cells lack intracellular catalase activity. The injury of vascular cells, which constitute important components of blood vessels, may lead to vascular injury and subsequent tissue damage. 相似文献
65.
Mitochondrial cytochrome b genes (cyt b) of 40 strains of Cryptococcus neoformans were partially sequenced to determine the genetic relations. With the exception of the type strain of C. neoformans var. neoformans, all strains contained introns in their sequences. Analysis of 386 bp of coding sequence from each strain under investigation revealed a total of 27 (6.99%) variable nucleotide sites and categorized isolates of C. neoformans into nine cyt b types. C. neoformans var. gattii included cyt b types I to V, and C. neoformans var. neoformans comprised types VI to IX. cyt b types were correlated with serotypes. All strains with cyt b types I, IV, and V were serotype B. All other strains except IFM 5878 (serotype B) with cyt b types II and III were serotype C. Serotype D strains had cyt b types VI and IX, and serotype A strains were cyt b type VIII. Of four serotype AD strains, one was cyt b type VII and the remaining three were type VIII. The phylogenetic tree based on deduced amino acid sequences divided the strains only into C. neoformans var. neoformans and C. neoformans var. gattii. These results indicate that cyt b sequences are effective for DNA typing as well as phylogenetic analysis of C. neoformans. 相似文献
66.
67.
Nakabo S Torii Y Itota T Ishikawa K Miyazaki K Suzuki K Yoshiyama M 《Biomaterials》2002,23(16):3503-3508
We previously demonstrated that fluoride release from resins could be regulated by the polysiloxane coating of the fluoride additives. The present study investigated the effects of regulated fluoride release from resin on enamel demineralization in vitro. Bovine enamel cavities were restored with bis-GMA/TEGDMA resins containing 50 wt% NaF powders treated with or without gamma-methacryloxypropyltrimethoxysilane. Specimens were immersed in distilled water that was changed daily to measure the amount of fluoride released over 40 days, and thereafter subjected to pH-cycling. Microradiographic observations were performed to determine total mineral loss (AZ) and lesion depth (Ld) on the enamel. In addition, fluorine distribution was analyzed using EPMA. The resin containing untreated NaF exhibited high-rate and short-term fluoride release, whereas the resin containing treated NaF released low concentrations of fluoride over a longer period. The former showed high fluorine uptake in the adjacent enamel. In contrast, the latter showed high fluorine uptake not only in the adjacent enamel, but also in a wider area of enamel surface. The latter also showed lower AZ and Ld values in the surrounding enamel, indicating a high inhibitory effect on caries formation. Therefore, it is suggested that regulated fluoride release from the resin based on polysiloxane coating is effective in preventing caries formation. 相似文献
68.
Esophageal ulceration triggers expression of hypoxia-inducible factor-1 alpha and activates vascular endothelial growth factor gene: implications for angiogenesis and ulcer healing 下载免费PDF全文
Baatar D Jones MK Tsugawa K Pai R Moon WS Koh GY Kim I Kitano S Tarnawski AS 《The American journal of pathology》2002,161(4):1449-1457
69.
Incidence and characterization of age related amyloid deposits in the human anterior pituitary gland
Takatoshi Tashima Tetsuyuki Kitamoto Jun Tateishi Koji Ogomori Hiroyuki Nakagaki 《Virchows Archiv : an international journal of pathology》1988,412(4):323-327
Summary To identify amyloid deposits in the anterior pituitary gland, we have immunohistochemical, histochemical and alkaline Congo red staining. The anti-human P component reacted positively with these amyloid deposits, while antisera against prealbumin, AA type amyloid fibril protein and various anterior pituitary hormones were negative. A combination of Congo red and anti-human P component staining was most sensitive and reliable for detection of amyloid in the anterior pituitary glands of 300 randomly autopsied patients. Amyloid deposits increased in parallel with the age of the patients, however, they appeared earlier and more frequently than heretofore reported. Deposition of amyloid was seen initially in the 3rd decade and the positivity rate of amyloid deposits was 73% in the 5th decade. The histochemical characteristics of these pituitary amyloid deposits differed from those of cerebral and systemic deposits, particularly those found in the amyloid of senile systemic amyloidosis.This study was supported in part by a grant from the Fundation for Advancement of Clinical Medicine and Ministry of Health and Welfare of Japan 相似文献
70.
MML(Medical Markup Language)是一套不同医疗设施间的数据交换规格。于1995年在日本被开发。MML从版本2.21开始使用XML(eXtensible Markup Language)作为标记语言。而最新版本3.0又遵循HL7Clincal Document Architecture(CDA),包含14模块和36个数据定义表格。目前在中国,还没有一个使用XML来结构整个病历内容的规格。鉴于MML的柔韧性,我们制作了一个基于3.0版本的汉化版。日本与中国虽然诊疗流程、病历记录的内容等都很相似,但是也有一些,比如民族的表现、中医诊断分类,医师资格分类等都是日本不存在的或者分类不同的信息。另外,因为国情不同,医疗保险制度也完全不同。为了使MML能在中国的医院适用,我们追加和更改了12个数据定义表格,并重新制作了医疗保险信息模块。MML汉化版不止是一个对原规格的翻译和说明,它还考虑了本地的需要。因此,使用MML汉化版在中国的医疗设施间进行医疗数据交换已经成为可能。 相似文献