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61.
Yoshimitsu Fukushima Keiko Wakui Toshiro Nishida Yasuo Ueoka 《American journal of medical genetics. Part A》1991,40(4):485-487
We report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and 4p15.2 [46, XY,t(3;4)(q23;p15.2)de novo]. Possible assignment of this autosomal dominant disorder is discussed. A 3q23 band is a more preferable gene locus of the blepharophi mosis sequence, based on the comparison of clinical manifestations between 4p- and 3q-syndromes. 相似文献
62.
Toshio Nishimura Keizo Tsuruhara Keiko Naito Junko Hirohara Sotokichi Morii 《Pathology international》1989,39(5):281-288
To examine the effect of colchicine on ethionine induced fatty liver, adult female rats were starved overnight and then injected i.p. with 1 g kg ethionine at 11th hour of fasting; then a half of the rats were also injected i.p. with 2.5 mg kg colchicine twice at 3 and 6 h after the single administration of ethionine. Similarly, fasted control rats were injected i.p. with vehicle alone at the above times. All of the rats were sacrificed after a 20 h fast, and the hepatocytes in periportal areas were observed ultra-structurally. In addition, total lipids in the liver tissue were extracted and determined biochemically. Although similar significant increases of triglyceride were observed in the liver tissue of all ethionine-injected rats, the hapatocytes in the group treated with both chemicals had fewer cytoplasmic fat globules (CFG) than those in the group treated with ethionine only. On the other hand, the diameters of markedly increased membrane-bound lipid particles (MLP) in the double treated group were distributed mainly in the range 0.2–0.4 μm, compared with those (0.1-0.2 μm) in the other groups. These findings indicate that colchicine inhibits the development of CFG in ethionine injured hapatocytes. Acta Pathol Jpn 39: 281∼288, 1989. 相似文献
63.
Tadashi Terada Yasuni Nakanuma Takeo Matsubara Tetsuo Suematsu 《Pathology international》1988,38(10):1345-1351
The pathology of a rare case of primary diffuse angiosarcoma of the pericardium is reported. Grossly, the heart was entirely encased by the pericardial tumor, and the myocardium was only superficially invaded by the tumor. The tumor tissue extended directly to the mediastinum, where the great vessels were embedded in the tumor. A few minute distant metastases were found only in the bilateral lungs and pulmonary hilar lymph nodes. Microscopically, the tumor tissue was composed of malignant cells forming vascular channels admixed with solid areas. Histo- and immunohistochemically, no mesothelial characteristics were evident. Factor VHI-related antigen and Ulex'europaeus I lectin were positive, implying that the tumor was of vascular origin. Grossly, and in part microscopically, this case resembled malignant diffuse mesothelioma, indicating that pericardial angiosarcoma may sometimes mimick malignant mesothelioma. ACTA PATHOL JPN 38: 1345-1351, 1988. 相似文献
64.
Keiko Yamamoto‐Shimojima Taichi Imaizumi Hiroyuki Akagawa Hitoshi Kanno Toshiyuki Yamamoto 《American journal of medical genetics. Part A》2020,182(3):521-526
Primrose syndrome is a congenital malformation syndrome characterized by intellectual disability, developmental delay, progressive muscle wasting, and ear lobe calcification. Mutations in the ZBTB20 gene have been established as being accountable for this syndrome. In this study, a novel de novo ZBTB20 mutation, NM_001164342.2:c.1945C>T (p.Leu649Phe), has been identified through whole exome sequencing (WES) in a female patient presenting a typical Primrose phenotype. Because the present patient exhibited recurrent otitis media, detailed immunological examinations were performed in this study and subnormal immunoglobulin levels were firstly identified in a Primrose patient. Anatomical anomaly of the inner ear has never been reported in this patient and WES data did not include any relevant variants causally linked with the immunologic defect. Thus, there is a possibility of a relation between an unclassified immunodeficiency with selective IgG2 deficiency and Primrose syndrome and this may be the reason of recurrent otitis media frequently observed in Primrose patients. Because subnormal levels of IgG2 in this patient might be caused by an unrelated and still uncharacterized genetic cause, further studies are required to prove the causal link between aberrant ZBTB20 function and immunodeficiency. 相似文献
65.
66.
We describe seven cases of invasive fibrous tumors of the trachea and major bronchi with distinctive histologies and patterns of growth. The tumors are composed of proliferating fibroblasts and have moderate nuclear pleomorphism and low mitotic activity. The tumors bear some resemblance to inflammatory pseudotumor of the lung, fibrous histiocytoma, and fibromatosis, but differ from each of these entities. The tumors are neoplastic and invade down to or between plates of cartilage. Because of their proximal location, these tumors are usually amenable to sleeve resection. Recurrence is possible. Metastasis has not occurred. Distinction from more malignant mesenchymal tumors of the trachea and bronchus will prevent unnecessarily radical surgery. 相似文献
67.
Glomerular expression of cell-cycle-regulatory proteins in human crescentic glomerulonephritis 总被引:4,自引:0,他引:4
Kosaku Nitta Shigeru Horita Kazuho Honda Keiko Uchida Teruo Watanabe Hiroshi Nihei M. Nagata 《Virchows Archiv : an international journal of pathology》1999,435(4):422-427
To elucidate the mechanism underlying crescentic formation, we assessed the phenotypic characterization and cell-cycle protein expression in human crescentic glomerulonephritis (CRGN). Kidney tissue specimens taken from CRGN patients (10 patients with pauci-immune type rapidly progressive glomerulonephritis (RPGN), 2 patients with Henoch-Schönlein purpura nephritis, and 1 patient with IgA nephropathy) were examined immunohistochemically. Most of the cellular components of the crescents expressed cytokeratin, whereas few cells expressed PHM-5. CD68-positive cells were minor components of cellular crescents, indicating that the major principal cellular component of the crescents is made up of cells with the parietal glomerular epithelial cell (PEC) phenotype. Additionally, serial section analysis revealed that Ki-67-positive cells in the crescents were frequently cyclin-A positive and Bcl-2 positive, but seldom cyclin-B1 positive. Moreover, the expression of cyclin-dependent kinase inhibitor p27Kip1 was low in the cellular crescents, despite being exclusively positive in podocytes within the same section. We concluded that the major component of the cellular crescents is made up of PECs and that apparent expression of cyclins and Bcl-2 and restrained expression of p27Kip1 may be synergistically associated with the development of cellular crescents in human CRGN. 相似文献
68.
69.
Toshiyasu Shimizu Keiko Sasaki Michio Kato Hideyuki Arimitsu Sadayuki Ochi Naoko Shigemori Eddy Bagus Wasito Takashi Yokochi Takao Tsuji 《Clinical and Vaccine Immunology : CVI》2005,12(1):157-164
We examined the activation of intraperitoneal T cells in BALB/c mice by the Escherichia coli enterotoxin B subunit, which induced a specific Th2 type of T-cell response to intraperitoneally coadministered bovine immunoglobulin G. The numbers of both γδ and αβ T cells increased significantly after intraperitoneal administration of the B subunit in a time-dependent manner; these numbers were not affected by the B-subunit G33D mutant, which is defective in GM1 ganglioside-binding ability. Early after administration a small number of γδ T cells produced either interleukin-4 (IL-4) or gamma interferon, while late after administration primarily IL-10-producing γδ T cells were detected. γδ T cells induced by the B subunit did not express a characteristic V gene over the time course of the study. The induction of γδ T cells did not occur in athymic nu/nu mice but could be induced upon transplantation of fetal AKR thymus-like αβ T cells. γδ T cells in athymic nu/nu mice with a fetal thymic graft predominantly expressed the donor Thy-1.1 antigen but not the host Thy-1.2 antigen. The induction of these T cells, however, could not be restored by coadministration of the B subunit with peritoneal cells from normal mice. These results suggest that the B subunit activates intraperitoneal γδ and αβ T cells in a manner dependent upon its ability to bind to GM1 ganglioside. γδ T cells induced by the B subunit are Th2-type cells derived from the thymus. These γδ T cells may be functionally involved in specific Th2 responses to the B subunit, which possibly acts as an adjuvant through the influence of αβ T cells. 相似文献
70.
Intending to clarify the true Incidence of Invasive lobular carcinoma of the breast In Japanese women as well as the frequency of unilateral multlcentriclty, 362 cases of clinically defined monocentrlc breast cancer without pre-operative biopsy (previously fine needle aspiration or needle biopsy were routinely carried out for every case) were examined by whole mammary gland serial sectioning. On the basis of pathology and the World Health Organization classification of breast tumors, each case was assigned to one of two main histologlc types: Invasive lobular carcinoma (ILC) or Invasive ductal carcinoma (IDC). Invasive lobular carcinoma was further separated into classic and variant types by employing previously published criteria. Twenty-one cases of ILC (5.8%) were diagnosed, which Is more than In most previous Japanese studies. Unilateral multicentric breast carcinoma was detected In 9.5% of ILC and 16.1% of IDC (the difference was found not significant). Microscopically, ILC tumors were found to be, on average, larger than IDC. Patients with classic type ILC tended to be younger than those with variant type or IDC. Estrogen receptor expression was found more frequently In variant type ILC than in classic type. These results suggest that the incidence of invasive lobular carcinoma of the breast In Japanese women is low and that unilateral multicentricity Is not significantly higher in ILC than in IDC. 相似文献