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81.
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients 总被引:5,自引:0,他引:5
Tazawa Y Kobayashi K Abukawa D Nagata I Maisawa S Sumazaki R Iizuka T Hosoda Y Okamoto M Murakami J Kaji S Tabata A Lu YB Sakamoto O Matsui A Kanzaki S Takada G Saheki T Iinuma K Ohura T 《Molecular genetics and metabolism》2004,83(3):213-219
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin K-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future. 相似文献
82.
83.
Okamoto N Toribe Y Nakajima T Okinaga T Kurosawa K Nonaka I Shimokawa O Matsumoto N 《Journal of human genetics》2002,47(10):0556-0559
Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation,
and characteristic craniofacial dysmorphism. Muscle hypotonia and delayed motor development are almost constant features of
the syndrome. We report a 4-year-old Japanese girl with 1p36 deletion syndrome whose muscle pathology showed congenital fiber
type disproportion (CFTD) myopathy. This is the first case report of 1p36 deletion associated with CFTD. This association
may indicate that one of the CFTD loci is located at 1p36. Ski proto-oncogene −/− mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome.
Because fluorescent in situ hybridization analysis revealed that the human SKI gene is deleted in our patient, some genes in 1p36, including SKI proto-oncogene, may be involved in muscle hypotonia and delayed motor development in this syndrome.
Received: March 4, 2002 / Accepted: July 7, 2002 相似文献
84.
Administration of superantigens protects mice from lethal Listeria monocytogenes infection by enhancing cytotoxic T cells 下载免费PDF全文
Superantigens stimulate T-cell-receptor Vbeta-selective T-cell proliferation accompanying the release of cytokines, which may eventually protect the host from microbial infections. We investigated here whether superantigens can rescue the host from lethal bacterial infection. Mice were pretreated with Staphylococcus aureus enterotoxin B (SEB) 1 and 2 days before bacterial infection, and the mortality of infected mice was assessed. SEB pretreatment protected mice from lethal infection with Listeria monocytogenes but not from lethal infection with Streptococcus pyogenes. This enhanced protection was also observed upon pretreatment with recombinant streptococcal pyrogenic exotoxin A. Furthermore, L. monocytogenes-specific delayed-type hypersensitivity (DTH) due to type 1 helper T (Th1) cells and the cytotoxicity of CD8(+) T cells were significantly enhanced after SEB administration and bacterial infection. Depletion of either CD4(+) T cells or CD8(+) T cells in SEB-pretreated mice completely abolished this protection. This phenomenon was ascribed to the elimination of L. monocytogenes-specific CD8(+) cytotoxic T lymphocytes (CTL). It was found that CD4(+) T cells contributed to the induction of the CTL populations. Furthermore, SEB pretreatment of heat-killed L. monocytogenes-immunized mice enhanced the protection from challenge of L. monocytogenes. Taken together, these results indicated that administrations of superantigens protected mice from infection with L. monocytogenes, which was dependent on the enhanced L. monocytogenes-specific CTL activity in the presence of CD4(+) T cells, and superantigens exhibited adjuvant activity in the immunization against intracellular pathogens. 相似文献
85.
S Okamoto Y Tanaka H F DeLuca Y Kobayashi N Ikekawa 《The American journal of physiology》1983,244(2):E159-E163
The biological activity of 24,24-difluoro-1,25-dihydroxyvitamin D3 was compared with 1,25-dihydroxyvitamin D3 in the rat. The 24,24-difluoro-1,25-dihydroxyvitamin D3 has a potency of approximately 5-10 times that of 1,25-dihydroxyvitamin D3 in the known in vivo vitamin D responsive systems. These systems include intestinal calcium transport, bone calcium mobilization, calcification of epiphyseal plate cartilage, and elevation of plasma calcium and phosphorus concentrations. Thus, 24,24-difluoro-1,25-dihydroxyvitamin D3 is the first known analogue with higher potency than 1,25-dihydroxyvitamin D3 in vivo. 相似文献
86.
Comparative morphology of endodermal sinus tumor (Teilum) to human yolk sac and a proposal of endodermal cell tumor 总被引:1,自引:0,他引:1
T Okamoto 《Acta pathologica japonica》1983,33(1):1-14
Histological criteria of 8 pure and typical endodermal sinus tumor (EST) were compared with the morphological features of 8 human yolk sacs from 5 to 13 weeks of pregnancy. No common features were found with regard to endodermal sinus structure (ESS) and clear-cell entoblastic pattern (CCEP), but magma reticulare (MR) and eosinophilic hyaline globules (EHG) were detected as common findings. As to the morphology and synthesis of alpha-fetoprotein (AFP), some tumor cells with eosinophilic-granular cytoplasm lining ESS had similarity to the endodermal cell of human yolk sac. Histological features of EST mimicked the morphological structure of endodermal sinus in rodent yolk sac. Pathological study on an ovarian and a gastric adenocarcinoma with high level of AFP concentration demonstrated two cell patterns with eosinophilic-granular and clear cytoplasm showing analogousness to the endodermal cell of human yolk sac. It was suggested that these tumors showed a selective differentiation to the endodermal cell of human yolk sac and might be called ECT. Further study clarified that ovarian embryonal carcinoma or teratocarcinoma with higher AFP concentration had vitelline component of EST or ECT or both. 相似文献
87.
Shigetoshi Horiguchi Yoshitaka Okamoto Shuji Yonekura Toru Okawa Naoki Kunii Heizaburo Yamamoto Daiju Sakurai Toyoyuki Hanazawa 《Arerugī》2008,57(5):558-561
BACKGROUND: Japanese cedar and cypress pollen share a common antigen. The cedar pollen season is followed by the cypress pollen season. However, both the clinical significance and involvement of cypress pollinosis in the treatment of the cedar pollinosis have not yet been clarified. METHODS: The clinical efficacy of sublingual immunotherapy with cedar pollen extract for cedar pollinosis was evaluated during the cypress pollen dispersal season in Japan. In addition, the change in cypress pollen specific IgE antibodies of the patients with cedar pollinosis was examined before and after the pollen season. RESULTS: Sublingual immunotherapy with cedar pollen extract did not improve the clinical symptoms of the cedar pollinosis patients combined with cypress pollinosis in the cypress pollen season. The cypress pollen specific IgE antibodies were found to demonstrate significant seasonal changes. CONCLUSION: The presence of cypress pollinosis should therefore be taken into consideration when planning the optimal treatment for cedar pollinosis. Sublingual immunotherapy with cedar pollen extract may not be effective for cypress pollinosis. 相似文献
88.
Kazuya Takeda Shuhei Sakakibara Kazuo Yamashita Daisuke Motooka Shota Nakamura Marwa Ali El Hussien Jun Katayama Yohei Maeda Masanobu Nakata Shigeyuki Hamada Daron M. Standley Masaki Hayama Takashi Shikina Hidenori Inohara Hitoshi Kikutani 《The Journal of allergy and clinical immunology》2019,143(3):1163-1175.e15
89.
Takaaki Ohmori Kazuyo Okada Ryo Tabei Keisuke Sugiura Shinji Nabeshima Hiroji Ohoka Masaki Okamoto 《Pathology international》1994,44(4):333-337
A case of primary seminal vesicle carcinoma is reported. The tumor was a CA125-producing adenocarcinoma consisting of fine papillary-tubular, intricate branching or anastomosing glandular structures and was composed of small cuboidal, but occasionally hobnailed, cells with mostly clear, but occasionally granular, cytoplasm. Some tumor cells showed evidence of secretion of seromucinous materials into the interpapillary and cystic space. lmmunohistochemically, almost half of the tumor cells expressed a positive reaction with anti-CAl25, a common serological marker for ovarian epithelial carcinomas; however, no tumor cells expressed any other serological tumor markers such as carcinoem-bryonic antigen, α-fetoprotein, human chorionic gonadotropin, prostatic specific acid phosphatase, or prostatic specific antigen. The patient showed a high level of serological CA125, which fluctuated parallel with the growth, removal and recurrence of the tumor. The morphological and immunohistochemical findings suggested a close relationship between the present tumor and clear cell carcinoma of the ovary, which is thought to be of a Müllerian-Wolfian duct origin. 相似文献
90.
H Kanagawa E Takai F Tsuda A Machida M Kojima A Ishijima T Tanaka H Okamoto Y Miyakawa M Mayumi 《Journal of medical virology》1992,37(4):288-293
Of sera from 1,878 Japanese blood donors who carried hepatitis B surface antigen (HBsAg), 420 were subtyped as adw (22.4%) and 1,443 as adr (76.8%); only 15 (0.8%) contained HBsAg of subtype ayw or ayr. Sera with HBsAg/adr had higher HBsAg titres than those with HBsAg/adw (geometric mean of haemagglutination titre: 10.1 +/- 2.4 vs. 9.7 +/- 2.4, p less than 0.01), and a higher prevalence of hepatitis B e antigen (24% vs. 13%, p less than 0.001). Carriers of HBsAg/adr progressively predominated over those of HBsAg/adw with increasing age. Of sera from 1,863 carriers of HBsAg/adw or HBsAg/adr, 182 (9.8%) contained HBsAg particles with both subtypic determinants in the w/r allele. The presence of w and r determinants on the same particles was ascertained by sandwiching them between monoclonal antibody with the specificity for w and that with the specificity for r. HBsAg particles of compound subtype (adwr) were found more often in sera with hepatitis B e antigen than those without it (145/403 [36.0%] vs. 37/1,460 [2.5%], p less than 0.001). Sera with HBsAg/adwr particles had HBsAg titres higher than those without them (12.4 +/- 1.9 vs. 9.7 +/- 2.3, p less than 0.001). HBsAg/adwr particles arise from phenotypic mixing of the S-gene product of wild-type virus and that of mutants with point mutations for subtypic changes. The results obtained indicated that HBV strains of subtype adr have a higher replicative activity than those of adw, and suggested that mutations in the S gene for subtypic changes would be associated with an active replication of hepatitis B virus. 相似文献