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71.
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by the clinical triad of life-threatening progressive cardiomyopathy with conduction defect, early onset joint contractures and slow progressive muscle weakness in scapulo-humero-peroneal distribution. Cardiomyopathy in EDMD is usually noticed after the second to third decade of life, and becomes worse with age. Permanent auricular paralysis occurs frequently and is considered a hallmark of EDMD cardiomyopathy. Cardiac involvement may also occur in female carriers. In autopsy cases, enlargement of the atria with remarkable thinning have been observed. Identification of the gene responsible for X-linked EDMD (X-EDMD) and the protein product, emerin, provided a diagnostic clue for EDMD. Since the emerin gene is rather small, the entire sequence can easily be surveyed. Western blot and immunohistochemistry show an absence of emerin in muscle and skin tissues and oral exfoliating cells in male patients with X-EDMD, and a reduction of the protein content with a mosaic expression pattern in female carriers. Emerin anchors at the inner nuclear membrane of cardiac, skeletal and smooth muscles, and interacts with lamins and nucleoplasm, thereby possibly maintaining the mechanical stability of the nuclear membrane of muscle cells that shows rigorous contraction/relaxation. More recently, positive emerin staining at the cardiac demosomes and fasciae adherentes was noticed in addition to the specific localization at the inner nuclear membrane. This localization implies a physiological role for the protein in cardiac conduction. 相似文献
72.
Komine Y Tanaka NK Yano R Takai S Yuasa S Shiroishi T Tsuchiya K Yamamori T 《Brain research. Molecular brain research》1999,66(1-2):1-13
We have characterized a novel type of non-coding RNA which consists of tandem repeats of similar sequences, approximately 0.9 kb in size. This RNA, termed Bsr (brain specific repetitive) RNA, is encoded at a single locus (6 q31-->q32) in the rat genome, where 100 to 150 copies of the 0.9 kb sequences are repeated in tandem. Bsr RNA is preferentially expressed in the rat central nervous system (CNS), especially in phylogenetically old structures, such as the pareo- and archicortex, amygdala, thalamus and hypothalamus. In the developing brains, Bsr RNA is expressed in the subsets of differentiating cells but not in proliferating cells. Despite the finding that Bsr RNA appears to be conserved only among the Rattus species, the specific expression pattern of Bsr RNA suggests that it might have some role in the rat CNS. 相似文献
73.
Prevalence of microalbuminuria and relationship to the risk of cardiovascular disease in the Japanese population 总被引:3,自引:0,他引:3
Tomura S Kawada K Saito K Lin YL Endou K Hirano C Yanagi H Tsuchiya S Shiba K 《American journal of nephrology》1999,19(1):13-20
The prevalence of microalbuminuria and its relationship to cardiovascular disease risk factors were examined in subjects participating in an annual physical and laboratory examination program. The urinary albumin concentration and the urinary albumin/creatinine ratio were determined in morning urine specimens. A turbidimetric immunoassay was used for the measurement of urinary albumin. Of the 731 subjects, 41 (5.6%) who were weakly positive or positive on a routine dipstick test for protein were excluded from the final analysis of data. Microalbuminuria was present in 14.5% of the men, in 12.4% of the women, and in 13.2% of the entire subject population when defined as a urinary albumin concentration of 30-299 microgram/ml. The prevalence of microalbuminuria was significantly higher in subjects with a high normal blood pressure (15.0%) or hypertension (26.2%) as compared with normotensive subjects (6.5%). Subjects with impaired glucose tolerance (24.3%) or hyperglycemic subjects (50.0%) had a significantly higher prevalence of microalbuminuria than normoglycemic subjects (11.3%). The prevalence of microalbuminuria was significantly higher in subjects with left ventricular hypertrophy (47.1%) as compared with those with normal electrocardiograms (11.3%). A good correlation was observed between urinary albumin concentration and albumin/creatinine ratio, and both showed a significant positive correlation with age, systolic and diastolic blood pressures, and fasting plasma glucose, total serum protein, albumin, and triglyceride levels, but not with angiotensin-converting enzyme activity. Multiple regression analysis demonstrated that both the urinary albumin concentration and the albumin/creatinine ratio show a significant positive correlation with systolic blood pressure and fasting plasma glucose. The prevalence of microalbuminuria was about 13% in this Japanese cohort, and the systolic blood pressure and the fasting plasma glucose level were demonstrated as independent risk indicators for both urinary microalbumin level and urinary microalbumin/creatinine ratio. 相似文献
74.
Tsubota S Tsuchiya H Shinokawa Y Tomita K Minato H 《The Journal of bone and joint surgery. British volume》1999,81(1):125-129
We carried out limb lengthening in rabbits and then transplanted osteoblast-like cells derived from the tibial periosteum to the centres of distracted callus immediately after distraction had been terminated. Two weeks later the transaxial area ratio at the centre of the distracted callus and the bone mineral density (BMD) were significantly higher in the transplanted group, by 21% and 42%, respectively, than in the non-injected group or the group injected with physiological saline (p < 0.05). Callus BMD as a percentage of density in uninvolved bone was also significantly higher in the transplanted group (p < 0.05) than in the other two groups, by 27% and 20% in the second and fourth weeks, respectively (p < 0.05). Mechanically, the callus in the transplanted group tended to be stronger as shown by the three-point bending test although the difference in fracture strength was not statistically significant. Our results show that transplantation of osteoblast-like cells promotes maturity of the distracted callus as observed at the second and fourth weeks after lengthening. The method appears promising as a means of shortening the consolidation period of callus distraction and decreasing complications during limb lengthening with an external fixator. 相似文献
75.
This is a report of a patient with late-onset multiple sclerosis at age 82 years. The lesion involved was located on the spinal cord. Multiple sclerosis mainly affects young adults, making late onset of multiple sclerosis a rarity, particularly for cases after age 80 years. Common characteristics of late-onset multiple sclerosis reported in other publications are predominant involvement of the spinal cord and a progressively worsening course with a serious prognosis. In this case, magnetic resonance imaging revealed a large area of high signal intensity in the cervical and upper thoracic spinal cord on T2-weighted images. An increased immunoglobulin G level in cerebrospinal fluid also played a diagnostic role in ruling out cervical spondylotic myelopathy. Spontaneous improvement occurred 2 months after the onset. Unlike other patient described in the literature, the clinical course of this man was not as bleak. 相似文献
76.
Takashi Ueno Akira Tangoku Shigefumi Yoshino Toshihiro Abe Hideto Hayashi Hiroaki Toshimitsu Kiichiro Hashimoto Tomomitsu Satoh Atsunori Oga Tomoko Furuya Masaaki Oka Kohsuke Sasaki 《Clinical cancer research》2003,9(14):5137-5141
PURPOSE: Selection of appropriate protocols for treatment of superficial esophageal squamous cell carcinoma (SESCC) is dependent on lymph node metastasis status. Therefore, it is important to know whether lymph node metastasis is present before treatment. EXPERIMENTAL DESIGN: In this study, we examined the relation between DNA sequence copy number aberrations detected by comparative genomic hybridization and lymph node metastasis in 26 surgically resected SESCCs (training samples). We then assessed whether the genetic information is predictive for nodal status in biopsy specimens from eight newly enrolled patients with SESCC (blinded samples). RESULTS: Pathological examination revealed that 17 of 26 training samples (65.4%) did not have associated lymph node metastasis. Gains of 8q24 and/or 20q12-qter were observed in 12, including all (nine of nine) with nodal metastasis. Fourteen training samples did not have gain of either 8q24 or 20q12-qter. Of the blinded samples, two showed no gain of 8q24 or 20q12-qter, and as anticipated the postoperative pathological examination revealed no nodal metastasis. The remaining six blinded samples had gains of 8q24 and/or 20q12-qter, and lymph node metastasis was detected by postoperative examination in four of these tumors. CONCLUSIONS: Absence of gains of 8q24 and/or 20q12-qter appears to be associated with absence of lymph node metastasis in patients with SESCC; therefore, less invasive surgery can be chosen. 相似文献
77.
Hashiba T Noguchi S Tsuchiya F Takeda M Masuda M Kubota Y Hosaka M 《Urologia internationalis》2000,64(4):209-212
We developed a serum-free coculture model of benign prostatic hyperplasia (BPH) to clarify whether stromal cells stimulate growth of epithelial cells from BPH tissues. Epithelial and stromal cells from freshly isolated BPH tissue were cultured separately in defined serum-free WAJC 404/RPMI 1640 medium supplemented with insulin, transferrin, selenium, hydrocortisone, bovine serum albumin, epidermal growth factor, basic fibroblast growth factor and keratinocyte growth factor. (3)H-Tdr incorporation into epithelial cells and stromal cells was used as a measure of proliferation. When epithelial cells were cocultured with stromal cells, (3)H-Tdr incorporation into epithelial cells was increased in comparison to that in epithelial cells cultured alone. Dihydrotestosterone significantly increased this effect. It is likely that the in vitro coculture model reported here will be useful for isolating and understanding stromal cell-derived paracrine growth factor(s). 相似文献
78.
Pre- and postcontrast FLAIR MR imaging in the diagnosis of intracranial meningeal pathology 总被引:2,自引:0,他引:2
PURPOSE: Few reports address the use of fluid-attenuated inversion-recovery (FLAIR) images of the brain in the diagnosis of extraaxial lesions. Our purpose was to assess the value of FLAIR images, including postcontrast ones, in the diagnosis of intracranial meningeal diseases. METHODS: We reviewed precontrast (n=24) and postcontrast (n=20) FLAIR images obtained from 25 patients with infectious meningitis (n=13), carcinomatous meningitis or dissemination of primary brain tumor (n=7), dural metastasis (n=3), and others (n=2) in comparison with fast spin-echo T2-weighted and postcontrast T1-weighted images. RESULTS: In lesion detectability, precontrast FLAIR images were significantly superior to fast spin-echo T2-weighted images but inferior to postcontrast T1-weighted images. There was no significant difference between postcontrast T1-weighted and FLAIR images. CONCLUSION: Precontrast FLAIR images can substitute for conventional fast spin-echo T2-weighted images. Postcontrast FLAIR images have diagnostic potential equivalent to conventional postcontrast T1-weighted images. 相似文献
79.
80.
PURPOSE: Our purpose was to describe the MR findings of influenza encephalopathy and assess the value of diffusion-weighted imaging for its diagnosis. METHOD: We examined a total of five patients diagnosed as having influenza encephalopathy or encephalitis by MRI, including diffusion-weighted imaging. We analyzed the conventional images and compared them with diffusion-weighted images. RESULTS: Abnormally hyperintense lesions of varying extent and location were noted on T2-weighted and fluid-attenuated inversion recovery images in the cortex and adjacent white matter in every case. They showed no contrast enhancement. Diffusion-weighted imaging demonstrated the lesions as areas of restricted proton diffusion more clearly than conventional imaging. CONCLUSION: Influenza encephalopathy is depicted as areas of T2 elongation having a rather nonspecific distribution. Diffusion-weighted imaging can demonstrate the lesions sensitively and serve as a valuable adjunct to conventional MRI. 相似文献