http://hdl.handle.net/10564/1559 2003-12 Fri, 10 Apr 2026 15:39:13 GMT 2026-04-10T15:39:13Z http://hdl.handle.net/10564/212 タイトル: グリセロールキナーゼ欠損症を伴った先天性副腎低形成の1症例 著者: 村上, 智彦; 上辻, 秀和; 中野, 智巳; 金, 一; 西久保, 敏也; 木里, 頼子; 石川, 直子; 桑原, 勲; 坂上, 哲也; 湧井, 敬子; 福嶋, 義光 抄録: X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency caused by deletion or mutation of the DAX-1 gene and frequent association with hypogonadotropic hypogonadism (HHG). Furthermore, this form can occur as a part of Xp21 contiguous gene syndome together with glycerol kinase deficiency (GKD) and Duchenne muscular dystrophy. We report a 4-year-old boy with X-linked AHC with GKD. He presented a generalized hyperpigmentation at birth and was admitted to our hospital at the age of 0 day because of convulsion attacks. Laboratory finding on admission revealed marked hypoglycemia (0mg/dl), mild metabolic acidosis and normal electrolytes. Endocrinologic examinations showed elevated plasma ACTH concentration (> 3000pg/ml) and plasma renin activity (8.6ng/ml/hr.), low serum concentration of cortisol (1.1μg/dl), aldosterone (33pg/ml), 17α-hydroxyprogesterone (17αOHP) and dehydroepian- drosterone sulfate (DHEA-S). Computed tomography scan of the abdomen did not show an adrenal gland. Serum glycerol level was also elevated. With these findings, we made a diagnosis of AHC with GKD. Genetic analysis by fluorescence in situ hybridization (FISH) revealed the deletion in the Xp21 region including DAX-1 gene in both the patient and his mother. He was treated with the supplement of hydrocortisone and fludrocortisone acetate and showed normal growth and development without any symptom of myopathy at the age of 4 years. Tue, 30 Dec 2003 15:00:00 GMT http://hdl.handle.net/10564/212 2003-12-30T15:00:00Z http://hdl.handle.net/10564/211 タイトル: 多剤耐性遺伝子(MDR1)過剰発現肝細胞癌に対するelectrochemotherapyの有用性に関する基礎的検討 著者: 西脇, 功 抄録: The aim of this study was to investigate the role of electroporation in the treatment of carcinoma expressing multidrug resistance gene 1 (MDR1). The cells stably expressing MDR1 gene (BNL/MDR1-Bulk) and the clone expressing the MDR1 gene at the highest level (BNL/MDR1-Clone) were established by transducing human MDR1 gene into the mouse hepatocellular carcinoma (HCC) cell line, BNLIME.7R.1. The expressions of P-glycoprotein on the cell surface of the established HCC cells, BNL/MDR1-Bulk and BNL/MDR1-Clone, were determined by fluorescence-activated cell sorter (FACS) with the monoclonal antibody MRK16, specific against human P-glycoprotein. BNL/MDR1-Bulk expressed P-glycoprotein on the cell surface at various levels, and BNL/MDR1-Clone expressed it at the highest level. In vitro, BNL/MDR1-Bulk and BNL/MDR1-Clone exhibited approximately 8-fold and 10-fold higher resistance against adriamycin, respectively, 4-fold and 10-fold higher resistance against vinblastin, respectively, and 2-fold and 5-fold higher resistance against mitomycin C, respectively. When these cells were exposed to adriamycin with electroporation in vitro, the chemosensitivities against adriamnycin were increased, reaching the level of the parental cells (BNL/Wild). In the mouse models of subcutaneous tumors produced by inoculation of these cells, electroporation alone or injection of adriamycin at 1/10 of the 50% lethal dosage could not inhibit the growth of the tumor. However, electrochemotherapy consisting of adriamycin injection with electroporation did inhibit tumor growth not only in mice inoculated with the parental HCC cells or BNL/Wild cells, but also in P-glycoprotein presenting mice inoculated with BNL/MDR1-Bulk or BNL/MDR1-Clone. These results indicated that electrochemotherapy has the potential to overcome the tumor resistance related to MDR function in hepatoma cells. Tue, 30 Dec 2003 15:00:00 GMT http://hdl.handle.net/10564/211 2003-12-30T15:00:00Z http://hdl.handle.net/10564/210 タイトル: 小児の感染性胃腸炎における季節性の検討 著者: 松永, 健司; 赤澤, 英樹; 武山, 雅博; 矢本, 陽子; 今津, 美由紀 抄録: Seasonal analyses were conducted in children with pathogen proven infectious gastroenteritis. Between 1998 and 2002, 214 patients were enrolled in this study. Causative agents include rotavirus (n=141), Norwalk virus (n=23), enteric adenovirus (n=6), Salmonella spp. (n=27), Campylobacter jejuni (n=16) and enterohemor- rhagic Escherichia coli (n=1). Of the viral agents, outbreaks of gastroenteritis due to rotavirus occurred most often during late winter and early spring, with a peak in March-April, whereas Norwalk virus infections were prevalent in early winter, attaining the largest number in November- December. Enteric adenovirus (serotype40/41) infections occurred throughout the year. Of the bacterial agents, nontyphoidal Salmonellosis was prevalent in the summer with a peak in August-September, whereas C. jejuni infections were found throughout the year. Seasonal distribution shows a characteristic pattern in each causative agent not only in viral gastroenteritis but also in bacterial enterocolitis; so that seasonal analyses are useful for empiric therapy in children with infectious gastroenteritis. Tue, 30 Dec 2003 15:00:00 GMT http://hdl.handle.net/10564/210 2003-12-30T15:00:00Z http://hdl.handle.net/10564/209 タイトル: 免疫組織染色を用いたα2-HS glycoproteinの臓器分布 著者: 吉田, 裕慈; 高橋, 幸博; 川口, 千晴; 中島, 充; 吉岡, 章 抄録: Alpha2-HS glycoprotein (α2-HS) is a plasma glycoprotein with a molecular weight of 49 kDa and is synthesized in the liver. Although it is generally accepted that α2-HS is involved in bone metabolism, its physiological functions have not been fully elucidated. Hence, in order to clarify the function of α2-HS, its distribution in the body was investigated by immunohistological staining using tissue samples obtained by autopsy. The results showed that, as previously known, α2-HS existed abundantly in the liver and bones, and was also detected in organs such as heart, pancreas, kidney, small intestine and brain, but not in the lung, spleen or adrenal gland. The results of the present study clarify that α2-HS exists in many organs besides the bones, suggesting that α2-HS is a multi-fUnction protein involved not only in bone metabolism, but also in other physiological reactions. Tue, 30 Dec 2003 15:00:00 GMT http://hdl.handle.net/10564/209 2003-12-30T15:00:00Z