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91.
Jo EK Kumaki S Wei D Tsuchiya S Kanegane H Song CH Noh HY Kim YO Kim SY Chung HY Kim YH Kook H 《Journal of Korean medical science》2004,19(1):123-126
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21. A 13-month-old boy with recurrent infections who had reduced serum immunoglobulin levels and decreased numbers of CD3, CD16/56 cells was evaluated for gamma c chain gene mutation and protein expression. The patient had a C-to-T point mutation at nucleotide position 690, one of the hot spots, resulting in a single amino acid substitution of cysteine for arginine (R226C), as determined by direct sequencing and PCR-RFLP. The patient's mother was a heterozygous carrier. Percutaneous umbilical cord blood sampling was performed at the 6-month of gestation in a subsequent pregnancy. As the immunophenotype of the fetus showed an identical pattern, the pregnancy was terminated and genetic analysis of the abortus confirmed recurrence. This is the first report of the molecular diagnosis of X-SCID in Korea. Genetic analysis of the gamma c chain gene is useful for definite diagnosis and genetic counseling for X-SCID. 相似文献
92.
Yuxiang Ma Daxian Zhang Teruyuki Kawabata Takahiro Kiriu Shinya Toyokuni Koji Uchida Shigeru Okada 《Pathology international》1997,47(4):203-208
The copper and Iron status in the liver of non-tumor bearing Long-Evans Cinnamon (LEC) rats (average age 17 months) was investigated. A direct quantitation of loosely-bound copper and iron was also investigated by using a chelating agent, nitrilotriacetic acid (NTA-chelatable free copper and iron). Besides the total copper and iron contents, the level of NTA-chelatable free copper was also higher in LEC rats than In LEA rats (P<0.05). But for the free iron level there was no signiflcant difference between the two rat groups (P>0.05). The formation of thiobarbituric acid-reactive substances was higher In LEC rats than In LEA rats (P<0.01). The 4–hydroxy-2–nonenal (HNE)-modified proteins were also clearly demonstrated in LEC rat liver. The copper and iron which produced the most important effect In the process of oxidative damage in LEC rats could not be distinguished. Even though free copper, which could induce free radical injuries, was increased in LEC rats, neither tumor-induction nor preneo-plastic lesions in the experimental LEC rats were observed. Therefore it is speculated that the elevation of a free iron is another important factor. Copper and iron, both important translation metals In the body, may participate In the Induction of DNA damage and oncogenesls 相似文献
93.
Kanji Ohiwa Takayuki Harada Shigeru Morikawa Teruhisa Nakamura 《Pathology international》1994,44(8):635-644
The distribution of carcinoembryonic antigen (CEA) in human gastric adenocarcinoma cell lines (HPE-GAC-3 cells and HPE-GAC-2 cells) was determined immunohistochemically by indirect peroxidase-labeled antibody method at the light and electron microscopic levels. In GAC-3 cells that proliferated as non-adherent single cells, CEA was located in the perinuclear spaces, the endoplasmic reticulum, Golgi apparatus, vesicles, multivesicular body (MVB) and entire plasma membrane. Membrane CEA was shown to be internalized into MVB in GAC-3 cells. In GAC-2 cells that form an acinus, CEA was predominantly present along the microvilli of the lumina) surface and in glycocalyceal bodies, the vesicles which bud from the microvilli into the lumen. These results suggest that in poorly differentiated cancer cells CEA is transported over the entire cell surface, retained on the membrane and accumulated Into the cell by way of the MVB, but in well differentiated cancer cells the newly synthesized CEA is rapidly and predominantly transported to the luminal surface and rapidly released from the membrane into the lumen by way of the glycocalyceal body. 相似文献
94.
Yoko Suda Isao Matsuo Shigeru Kuratani & Shinichi Aizawa 《Genes to cells : devoted to molecular & cellular mechanisms》1996,1(11):1031-1044
Background: We previously reported that the homozygous mutation of Otx2 gene, a mouse cognate of the Drosophila head gap gene orthodenticle , causes failure in the development of the rostral head anterior to rhombomere 3, which may correspond to earlier Otx2 expression in cells destined for the anterior mesoendoderm. At the same time, the Otx2 heterozygous mutation displayed a phenotype characterized as otocephaly, probably related to expression in the anterior neuroectoderm at the subsequent pharyngula stage. Defects were characteristic in the most anterior and posterior regions of Otx2 expression where Otx1 , another mouse cognate of orthodenticle , is not or weakly expressed. They were not found in the region where Otx1 is expressed.
Results: In the present work, Otx1 null mutant mice were generated by gene targeting in embryonic stem cells. No defects were apparent in the regionalization of the early embryonic rostral brain. The newborn brain defects were subtle and most likely related to later Otx1 -unique expression. Otx1 and Otx2 double heterozygous mutant brains, however, exhibited marked defects throughout the fore- and midbrains, where defects were not apparent with a single mutation alone.
Conclusions: Otx1 and Otx2 play synergistic roles in the development of the forebrain and midbrain where both genes are expressed. 相似文献
Results: In the present work, Otx1 null mutant mice were generated by gene targeting in embryonic stem cells. No defects were apparent in the regionalization of the early embryonic rostral brain. The newborn brain defects were subtle and most likely related to later Otx1 -unique expression. Otx1 and Otx2 double heterozygous mutant brains, however, exhibited marked defects throughout the fore- and midbrains, where defects were not apparent with a single mutation alone.
Conclusions: Otx1 and Otx2 play synergistic roles in the development of the forebrain and midbrain where both genes are expressed. 相似文献
95.
Summary Seventy-one Caucasian orbits (36 right, 35 left) were studied by dissection. The diameter of the ophthalmic a. (2 mm from the origin) was 1.54 ± 0.04 mm (male) and 1.31 ± 0.05 mm (female). In individual cases, there were no significant differences in vessel diameter between the right and left sides but, differences in vessel diameter between males and females were more commonly observed in the arteries which leave the orbit (extraorbital group), the individual vessels having a larger diameter in males. The incidence of the ophthalmic a. passing in the orbit medially under the optic n. was 18.6%. The lacrimal a. was observed to arise from the ophthalmic a. in only 82.5% of the cases examined, 15.9% of the cases showed the origin to be at the anastomotic branch of the middle meningealThis article is dedicated to Pr Dr Hoepke on occasion of his 100th birthday 相似文献
96.
Protective role of heme oxygenase-1 in renal ischemia 总被引:3,自引:0,他引:3
Oxidative stress, which has been implicated in the pathogenesis of ischemic renal injury, degrades heme proteins, such as cytochrome P450, and causes the elevation in the level of cellular free heme, which can catalyze the formation of reactive oxygen species. Heme oxygenase-1 (HO-1), the rate-limiting enzyme in heme degradation, is induced not only by its substrate, heme, but also by oxidative stress. In various models of oxidative tissue injuries, the induction of HO-1 confers protection on tissues from further damages by removing the prooxidant heme, or by virtue of the antioxidative, antiinflammatory, and/or antiapoptotic actions of one or more of the three products, i.e., carbon monoxide, biliverdin IXalpha, and iron by HO reaction. In contrast, the abrogation of HO-1 induction, or chemical inhibition of HO activity, abolishes its beneficial effect on the protection of tissues from oxidative damages. In this article, we review the protective role of HO-1 in renal ischemic injury, and its potential therapeutic applications. In addition, we summarize recent findings in the regulatory mechanism of ho-1 gene expression. 相似文献
97.
Shigeru Amano Fumitada Hazama Hiromi Kubagawa Kachio Tasaka Hideyuki Haebara Yoshihiro Hamashima 《Pathology international》1980,30(5):681-694
Systemic pathological alterations were studied in thirty-seven autopsied patients with Kawasaki disease. Systemic vasculitis was the most characteristic pathological finding and was present in all the patients. In addition to the vasculitis, there was a high incidence of inflammatory lesions in various organs and tissues: in the heart, endocarditis, myocarditis, and pericarditis; in the digestive system, stomatitis, sialoduct-adenitis, catarrhal enteritis, hepatitis, cholangitis, pancreatitis, and pancreas ductitis; in the respiratory system, bronchitis and segmental interstitial pneumonia; in the urinary system, focal interstitial nephritis, cystitis, and prostatitis; in the nervous system, aseptic leptomeningitis, choriomeningitis, ganglionitis, and neuritis; in the hematopoietic system, lymphadenitis, splenitis, and thymitis. Dermatitis, panniculitis or myositis were also observed in some patients. Therefore, Kawasaki disease is a systemic inflammatory disease which mainly affects the cardiovascular system. These systemic inflammatory lesions are considered to correspond to the variegated clinical manifestaitions. The relationship between Kawasaki disease and infantile polyarteritis nodosa (IPN) were discussed, based on the clinicopathological characteristics. 相似文献
98.
Extranodal formation of lymphoid follicles was morphologically studied in experimental bronchopneumonia. Control gnotobiotic mice had no peribronchial lymphoid follicles and only lymphatic vessels were traced from the terminal bronchiolar region toward larger bronchi. During the week after intranasal inoculation of mycoplasma pulmonis, lymphoid follicles developed in the terminal portion of the lymphatics by the accumulation of small lymphocytes. A loose network of mesenchymal cells and early infiltration of macrophages, following stromal edema, seemed to play an important role in the early accumulation of lymphocytes. Blastic transformation was seen frequently in the center of the accumulated lymphocytes. Two weeks after inoculation plasma cells emerged conspicuously in the periphery of the lymphoid follicles, and the acute phase of bronchopneumonia began to subside. Typical germinal centers with tingible body macrophages and dendritic reticulum cells developed when the bronchitis persisted in a chronical manner. 相似文献
99.
Hiroyuki Kageyama Yoko Hayashi Shigeharu Harada Yasushi Kai Nobutami Kasai Yoshio Okamoto Koichi Hatada 《Macromolecular chemistry and physics.》1985,186(1):203-214
The molecular structures of 1,1-diphenylethyl methacrylate (1,1-DPEMA) and triphenylmethyl methacrylate (TrMA) were determined by means of X-ray diffraction. 1,1-DPEMA: monoclinic, space group P21/a,a = 9,666(6), b = 19,94(2), c = 8,132(6) Å, β = 104,49(7)°, and Z = 4; TrMA: monoclinic, space group P21/n, a = 17,349(3), b = 9,487(2), c = 11,254(2) Å, β = 102,30(2)°, and Z = 4. Both structures were solved by the direct method and refined by the block-diagonal least-squares procedure to R = 0,175 and 0,056 for non-zero reflections, respectively. In both molecules, conformations about the C(1)? C(2) and C(1)? O(1) bonds are all synperiplanar and one of the two or three phenyl groups attached to the C(5) atom is in trans to the O(2). 相似文献
100.
Hisao Yamaguchi Junya Fukuda Kensuke Baba Hiroshi Takeuchi Keizo Kageyama 《Pathology international》1972,22(3):427-440
The vascular structures in the lymph node and their relation to fluid exchange have been reported in previous communications and it was considered that the morphological changes of the vascular structures were closely correlated with the functional development of lymph nodes as an antibody forming organ. In order to clarify the localization of the given antigen and newly formed antibody in relation to the morphological structure of lymph nodes, the popliteal lymph nodes of rabbits were studied by immuno-fluorescent techniques.
The antibody was found in the pavement arrangement (solid) of reticulum tissue which was formed by the expel of lymphocytes in the cortical mass and by the morphofunctional alterations of the reticulum cells. The given antigen and newly formed antibody were never detected in the follicles throughout the period of this experiment. ACTA PATH. JAP. 22:427–440, 1972. 相似文献
The antibody was found in the pavement arrangement (solid) of reticulum tissue which was formed by the expel of lymphocytes in the cortical mass and by the morphofunctional alterations of the reticulum cells. The given antigen and newly formed antibody were never detected in the follicles throughout the period of this experiment. ACTA PATH. JAP. 22:427–440, 1972. 相似文献