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61.
Muroya K Hasegawa T Ito Y Nagai T Isotani H Iwata Y Yamamoto K Fujimoto S Seishu S Fukushima Y Hasegawa Y Ogata T 《Journal of medical genetics》2001,38(6):374-380
We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255). Fluorescence in situ hybridisation and microsatellite analyses showed heterozygous gross deletions including GATA3 in four families. Sequence analysis showed heterozygous novel mutations in three families: a missense mutation within the first zinc finger domain at exon 4 (T823A, W275R), an unusual mutation at exon 4 (900insAA plus 901insCCT or C901AACCCT) resulting in a premature stop at codon 357 with loss of the second zinc finger domain, and a nonsense mutation at exon 6 (C1099T, R367X). No GATA3 abnormalities were identified in the remaining two families. The triad of HDR syndrome was variably manifested by patients with GATA3 abnormalities. The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.
Keywords: GATA3; HDR syndrome; phenotypic spectrum; mutation analysis 相似文献
Keywords: GATA3; HDR syndrome; phenotypic spectrum; mutation analysis 相似文献
62.
Comparison of blood-free medium (cyclodextrin solid medium) with Bordet-Gengou medium for clinical isolation of Bordetella pertussis. 总被引:2,自引:2,他引:2
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T Aoyama Y Murase T Iwata A Imaizumi Y Suzuki Y Sato 《Journal of clinical microbiology》1986,23(6):1046-1048
Cyclodextrin solid medium (CSM) developed by us was evaluated to be a suitable synthetic medium for the clinical isolation of Bordetella pertussis when compared with Bordet-Gengou (BG) medium. The addition of 5 micrograms of cephalexin (CEX) per ml to CSM not only supported the good growth of B. pertussis but also sufficiently suppressed the growth of nasopharyngeal flora. During period 1 of this study, nasopharyngeal specimens from 60 patients with clinical pertussis were inoculated on CSM supplemented with 5 micrograms of CEX per ml. The isolation rate was 70% (42 of 60). To confirm the efficacy of CSM, another study was performed. During period 2 of this study, nasopharyngeal specimens were cultured on both CSM and BG medium, each with 5 micrograms of CEX per ml. The comparative isolation rates were 100% (40 of 40 specimens from 29 patients) on CSM with 5 micrograms of CEX and 65% (26 out of 40) on BG medium with 5 micrograms of CEX. The excellent efficacy of CSM as measured by the isolation rate was thought to be due to the poor nutrition of this medium for the growth of nasopharyngeal bacteria. CSM retained its efficacy in clinical isolations even after 3 months of storage in a refrigerator. These data led us to conclude that CSM with 5 micrograms of CEX was much better than BG medium with 5 micrograms of CEX, determined by both the isolation rate and preservativity considerations, and that CSM with 5 micrograms of CEX per ml can be successfully used instead of BG medium as a medium for the clinical isolation of B. pertussis. 相似文献
63.
Yoshio Hiasa Noriyuki Ito Masato Ohshima Tomoyoshi Ohmori Asao Seki Toshikazu Tatsumi Hiromu Yokoi Chikayoshi Iwata Yoshio Murata Nobuyuki Ito † 《Pathology international》1978,28(4):637-644
Light and electron microscopic studies have been made on an anaplastic giant-cell tumor that developed in a woman 8 years after an operation on the thyroid for papillary carcinoma. Many giant cells were observed in the anaplastic tumor tissue, but no follicles. Numerous tightly-packed mitochondria and abundant ribosomes were present, but there were no desmosomes. The basement membrane was not distinct. 相似文献
64.
Agarose for a bioartificial pancreas. 总被引:8,自引:0,他引:8
H Iwata T Takagi H Amemiya H Shimizu K Yamashita K Kobayashi T Akutsu 《Journal of biomedical materials research》1992,26(7):967-977
Islets were encapsulated into 5% concentration agarose microbeads. The effect of microencapsulation on islet allograft survivals was determined using a streptozotocin-induced diabetic (STZ) mouse and a nonobese diabetic (NOD) mouse as recipients. All five STZ BALB/c mice receiving microencapsulated islets (C57BL/6) maintained normoglycemia indefinitely. When NOD mice were used as recipients of the bioartificial pancreas, four of five grafts (islets from C3H/He) functioned for more than 80 d. Two of five NOD mice maintained normoglycemia until animals were sacrificed at 102 and 192 postoperative d. Microbeads made of commercially available agarose can effectively prolong alloislets functioning in the STZ-diabetic mouse and even in the NOD mouse (animal model of human type I diabetes) without the use of any immunosuppressive drug. 相似文献
65.
Morphological and immunohistochemical studies of the lungs and bronchus-associated lymphoid tissue in a rat model of chronic pulmonary infection with Pseudomonas aeruginosa.
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Pseudomonas aeruginosa is one of the most frequently encountered bacterial pathogens in patients with chronic pulmonary infections, including cystic fibrosis and diffuse panbronchiolitis. Bronchus-associated lymphoid tissue (BALT), noted frequently in patients with cystic fibrosis and diffuse panbronchiolitis, is considered to play an important role in the local immunologic defense mechanisms in the respiratory tract. To investigate the role of BALT in chronic pulmonary infections, we developed an animal model for chronic pulmonary infection and studied the morphological and immunohistochemical characteristics of BALT. Experimental pneumonia was produced in rats by intratracheal inoculation of P. aeruginosa enmeshed in agar beads. The histological changes corresponded to those occurring in chronic bronchiolitis. Immunohistochemically, surface immunoglobulin M-positive (sIgM+) cells and sIgA+ cells were recognized in the inflamed bronchial walls from day 4, and sIgG+ cells were recognized from day 14, W3/25+ cells exceeded OX8+ cells in number until day 14. In the BALT, there was a massive accumulation of lymphocytes in the lymphatics and high endothelial venules. The development of germinal centers was accompanied by increased numbers of sIgM+ and sIgA+ cells. W3/25+ cells exceeded OX8+ cells in number in the BALT until day 14. On the other hand, OX8+ cells were predominant in comparison with W3/25+ cells at day 21, and then both sIgM+ and sIgA+ cells and inflammatory changes in the lung decreased at day 28. These findings suggest that BALT regulates the local immune responses against chronic pulmonary infection due to P. aeruginosa. 相似文献
66.
Comparison among performances of a ligase chain reaction-based assay and two enzyme immunoassays in detecting Chlamydia trachomatis in urine specimens from men with nongonococcal urethritis. 总被引:3,自引:0,他引:3
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T Deguchi M Yasuda M Uno K Tada H Iwata H Komeda S Maeda V Latila I Saito Y Kawada 《Journal of clinical microbiology》1996,34(7):1708-1710
We evaluated the performances of a ligase chain reaction (LCR)-based assay and two enzyme immunoassays (Chlamydiazyme and IDEIA) in the detection of Chlamydia trachomatis in urine specimens. We compared the results of testing urine specimens by these assays with those of urethral swab culture by examining samples from 131 men with nongonococcal urethritis. Discrepant results were analyzed by testing urethral swab specimens for C. trachomatis by a PCR-based assay. After the resolution of discrepant results, the sensitivity of urethral swab culture was 85.3%, whereas those of the LCR assay, Chlamydiazyme, and IDEIA with urine specimens were 94.1, 82.4, and 94.1%, respectively. The LCR assay and IDEIA were more sensitive than was urethral swab culture. In addition, the LCR assay, with a sensitivity equal to that of IDEIA, was more specific. Overall, the LCR assay proved to be superior to the enzyme immunoassays in detecting C. trachomatis in urine specimens. Testing urine specimens by LCR assay should be a helpful alternative method for diagnosing C. trachomatis urethral infection in men with nongonococcal urethritis. 相似文献
67.
K Hayashi Y Ohtsuki H Sonobe J Iwata M Furihata T Hikita T Kishino T Akagi 《Acta medica Okayama》1991,45(1):49-53
We present a case of pre-elastofibroma-like lesion, a kind of elastic-producing fibrous tumor. The small colonic polyp, which was found in a 49-year-old asymptomatic man in association with a large colonic adenoma, showed submucosal nodular deposits of fine granular or fibrillar eosinophilic materials with interspersed fibroblastic cells. Elastic stain revealed these deposits to consist mainly of dark gray granular or partially fibrillar dense elastinophilic materials, most of which were digested with elastase. This stromal lesion somewhat resembled a pre-elastofibroma. Therefore, pre-elastofibroma-like lesions should be kept in mind as a possible origin of colonic polyp. 相似文献
68.
Kazuko Sukegawa Shunji Tomatsu Toshiyuki Fukao Hideki Iwata Xiang-Qian Song Yukiji Yamada Seiji Fukuda Kouji Isogai Tadao Orii 《Human mutation》1995,6(2):136-143
Mucopolysaccharidosis type II (Hunter disease) is a lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. Varied clinical phenotypes of this disease have been described. To identify mutations in individual patients and to examine possible correlations between mutations and clinical phenotypes, we analyzed the iduronate-2-sulfatase gene in Japanese patients with different clinical phenotypes. Five missense mutations, S333L (severe), R468Q (severe), R468L (severe), W337R (intermediate), R48P (mild), and three nonsense mutations, W345X (severe), R443X (intermediate), Q531X (mild), were identified by the RT-PCR method. Transient expression in the enzyme-deficient fibroblasts revealed that all five missense mutant enzymes were synthesized as the normal-size precursor (73 kD), and the nonsense mutant enzymes were synthesized as truncated ones (W345X:54 kD, R443X:59 kD, and Q531X:69 kD), although stable mature enzymes (45–56 kD) were not detected by Western blot analysis. Further more, expression of the eight mutant cDNAs resulted in severe reductions of iduronate-2-sulfatase enzyme activity in comparison with a normal cDNA. © 1995 Wiley-Liss, Inc. 相似文献
69.
Treatment of persistent sleep-wake schedule disorders in adolescents with methylcobalamin (vitamin B12). 总被引:1,自引:2,他引:1
Two adolescent patients suffering from persistent sleep-wake schedule disorders appear to have responded to treatment with vitamin B12 (methylcobalamin). A 15-year-old girl with delayed sleep phase syndrome (DSPS) and a 17-year-old boy with hypernychthemeral syndrome complained of not being able to attend school despite many trials of medication. The improvement of the sleep-wake rhythm disorders appeared immediately after the administration of high doses (3,000 micrograms/day) of methylcobalamin. Neither patient showed any laboratory or clinical evidence of vitamin B12 deficiency or hypothyroidism (which can cause B12 deficiency). Serum concentrations of vitamin B12 during treatment were in the high range of normal or above normal. The duration of the sleep period of the DSPS patient decreased gradually from 10 hours to 7 hours, and the time of sleep onset advanced from 2 a.m. to midnight. The period of the sleep-wake cycle of the hypernychthemeral patient was 24.6 hours before treatment and 24.0 hours after treatment. The relationship between the circadian basis of these disorders and vitamin B12 and its metabolites is discussed. 相似文献
70.
Abeta-degrading endopeptidase,neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology 总被引:5,自引:0,他引:5
Fukami S Watanabe K Iwata N Haraoka J Lu B Gerard NP Gerard C Fraser P Westaway D St George-Hyslop P Saido TC 《Neuroscience research》2002,43(1):39-56
Metabolism of amyloid-beta peptide (Abeta) is closely associated with the pathology and etiology of Alzheimer's disease (AD). Since neprilysin is the only rate-limiting catabolic peptidase proven by reverse genetics to participate in Abeta metabolism in vivo, we performed detailed immunohistochemical analysis of neprilysin in mouse brain using neprilysin-deficient mice as a negative control. The aim was to assess, at both the cellular and subcellular levels, where Abeta undergoes neprilysin-dependent degradation in the brain and how neprilysin localization relates to Abeta pathology in amyloid precursor protein (APP)-transgenic mice. In hippocampus, neprilysin was present in the stratum pyramidale and stratum lacunosum-moleculare of the CA1-3 fields and the molecular layer of the dentate gyrus. Confocal double immunofluorescence analyses revealed the subcellular localization of neprilysin along axons and at synapses. This observation suggests that after synthesis in the soma, neprilysin, a type II membrane-associated protein, is axonally transported to the terminals, where Abeta degradation is likely to take place. Among various cell types, GABAergic and metabotropic glutamate 2/3 receptor-positive neurons but not catecholaminergic or cholinergic neurons, expressed neprilysin in hippocampus and neocortex, implying the presence of a cell type-specific mechanism that regulates neprilysin gene expression. As expected, Abeta deposition correlated inversely with neprilysin expression in TgCRND8 APP-transgenic mice. These observations not only support the notion that neprilysin functions as a major Abeta-degrading enzyme in the brain but also suggest that down-regulation of neprilysin activity, which may be caused by aging, is likely to elevate local concentrations of Abeta at and around neuronal synapses. 相似文献