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排序方式: 共有3704条查询结果,搜索用时 31 毫秒
41.
A missense mutation in the proteolipid protein gene responsible for Pelizaeus--Merzbacher disease in a Japanese family 总被引:2,自引:0,他引:2
Iwaki Akiko; Muramoto Tamaki; Iwaki Toru; Furumi Hiroyasu; Dario-deLeon Maria L.; Tateishi Jun; Fukumaki Yasuyuki 《Human molecular genetics》1993,2(1):19-22
We investigated the proteolipid protein (PLP) gene of two boysin a Japanese family with PelizaeusMerzbacher disease(PMD), an X-linked neurologic disorder characterized by dysmyelinationin the central nervous system (CNS). The patients showed similarclinical signs from birth and autopsy on the elder brother confirmeda connatal type of PMD. Direct sequencing of the PLP gene andPLP mRNAs from the brain of the PMD patient revealed a G toT transition in exon V of the PLP gene, which leads to a glycineto cystein substitution at residue 220. Allele-specific oligonucleotidehybridization revealed that this mutation was also present inhis brother, but was absent in 100 X chromosomes of normal Japaneseindividuals. Northern blot analysis showed that the mRNA levelsof PLP and myelin basic protein, two major myelin proteins producedby oligodendrocytes, were much reduced in the PMD brain, hence,there was a specific loss of oligodendrocytes. It seems likelythat the substitution is responsible for PMD (connatal type)in this particular family and causes oligodendrocytes deathin the CNS. 相似文献
42.
Kazu Matsumoto Daichi Ishimaru Hiroyasu Ogawa Shingo Komura Katsuji Shimizu Haruhiko Akiyama 《Journal of orthopaedic science》2021,26(3):483-486
BackgroundsExostosin-1 (EXT1) and exostosin-2 (EXT2) cause multiple osteochondromas (MO). In this study, we investigated the correlation between forearm deformity and mutant EXTs in Japanese families with MO.MethodsWe evaluated 112 patients in 71 families with MO. Genomic DNA was isolated from peripheral blood leucocytes. Of these, 28 patients were selected and underwent radiography for their forearms since they had gross forearm deformities. We measured the radial articular angle (RAA), ulna variance (UV), carpal slip (CS), and percentage of radial bowing (%RB) to compare between patients with mutant EXT1 or EXT2 and those with missense or other mutations using Student's t-test.ResultsTwenty-two (78.6%) and 6 (11.4%) out of 28 patients had mutations in EXT1 and EXT2, respectively. Nine (32.1%) and 19 (67.9%) of the 28 patients had missense and other mutations, respectively. The mean age of patients with EXT1 and EXT2 were 25.9 ± 20.3 and 33.5 ± 25.4 years, respectively and those with missense mutation and other mutations were 28.7 ± 27.0 and 24.6 ± 17.0 years, respectively. There were no significant differences in RAA, UV, and RB between patients harbouring mutant EXT1 or EXT2 (RAA, 40.1 ± 8.7 and 31.5 ± 13.9°; UV, ?2.7 ± 5.7 and ?3.1 ± 3.7 mm; %RB, 8.6 ± 1.5 and 8.3 ± 2.0%). CS was significantly greater in patients with mutant EXT1 than that in those with mutant EXT2 (EXT1, 44.1 ± 16.8%; EXT2, 18.6 ± 14.0%). There were no significant differences in RAA, UV, CS and %RB between patients with missense and other mutations.ConclusionsPatients with mutant EXT1 displayed greater CS than patients with mutant EXT2, indicating that patients with MO harbouring EXT1 mutations sustain more severe ulnar drift deformities than those with EXT2 mutations. 相似文献
43.
Torzilli G Takayama T Hui AM Kubota K Harihara Y Makuuchi M 《American journal of surgery》1999,178(4):341-343
Nowadays, resective hepatic surgery should be considered an echo-guided surgical procedure to guarantee that effective anatomical resection is accomplished. We describe a simple and original technique guided by intraoperative ultrasonography (IOUS), called the hooking technique, that enables the ligation sites of the intrahepatic vessels during systematic segmentectomy to be chosen precisely. Together with other IOUS-guided techniques described previously, the hooking technique provides a further guarantee for the successful execution of anatomical and radical liver resection. 相似文献
44.
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46.
Anterior Transhepatic Approach for Isolated Resection of the Caudate Lobe of the Liver 总被引:15,自引:4,他引:11
Junji Yamamoto Tomoo Kosuge Kazuaki Shimada Susumu Yamasaki Tadatoshi Takayama Masatoshi Makuuchi 《World journal of surgery》1999,23(1):97-101
RID=" ID=" <E5>Correspondence to:</E5> J. Yamamoto, M.D. 相似文献
47.
Hiroyasu Ishikura Yasunari Uedono Kazunobu Yamagami Takashi Arai Naoshi Takeyama Takaya Tanaka 《Surgery today》1996,26(9):694-699
We examined the effects of recombinant human granulocyte colony-stimulating factor (rhG-CSF) and cefmetazole sodium on survival, neutrophil count, and neutrophil function in rats with peritonitis produced by cecal ligation and puncture. Rats with peritonitis received either rhG-CSF (50 or 100 g/kg) with or without cefmetazole (50 mg/kg) for 3 days, cefmetazole alone, or no treatment and were evaluated as controls. The mortality rate of all treated rats was significantly lower than that of the untreated rats. The survival rate was 57.1% for the rats given both rhG-CSF and cefmetazole, but there was no significant improvement of survival as compared with cefmetazole therapy alone. Treatment with rhG-CSF at 100 |Gmg/kg caused the circulating neutrophil count to increase significantly. The phagocytic activity for latex beads and neutrophil H2O2 production showed a greater enhancement by phorbol myristate acetate (PMA) in the untreated rats, thus indicating that neutrophils from treated rats were more activated. These findings show that rhG-CSF can improve survival and neutrophil function in rats with peritonitis, while combined therapy with cefmetazole was also found to be beneficial. 相似文献
48.
Bitoh H 《Journal of anesthesia》1992,6(3):247-254
Oxygen free radicals (OFRs) have been reported to play pivotal roles in the pathogenesis of cell damage induced by ischemia and reperfusion. The efficacy of recombinant human superoxide dismutase (rh-SOD) in the treatment of circulatory disorders after reperfusion of the splanchnic area was investigated in rats. All rats died within 3 hours after release of 60-min superior mesenteric artery occlusion (SMAO) when no treatment was given. Animals which received rh-SOD, 2mg·100g–1BW, at reperfusion followed by a continuous infusion of rh-SOD 0.67mg·100g–1BW·hr–1, exhibited prolonged survival times compared with no treatment rats (231 ± 35min and 149 ± 43min, respectively). Mean blood pressure in rats treated with rh-SOD was higher than in controls after reperfusion, and was concomitant with improvement in splanchnic perfusion. The results suggest excessive activity of OFRs in reperfused organs and a possible scavenging effect of rh-SOD as a means of eliminating them.(Bitoh H: Recombinant human-type SOD attenuates circulatory disorders after reperfusion of splanchnic organs in rats. J Anesth 6: 247–254, 1992) 相似文献
49.
Akio Kanetoshi Eiji Katsura Hiroshi Ogawa Tohru Ohyama Hiroyasu Kaneshima Toshiaki Miura 《Archives of environmental contamination and toxicology》1992,23(1):91-98
Acute toxicity of 2,4,4-trichloro-2-hydroxydiphenyl ether (Irgasan® DP300) (I) and its three chlorinated derivatives, 2,3,4,4-tetrachloro-2-hydroxydiphenyl ether (II), 2,4,4,5-tetrachloro-2-hydroxydiphenyl ether (III) and 2,3,4,4,5-pentachloro-2-hydroxydiphenyl ether (IV), in mice were examined by intraperitoneal injection. The LD50 values of Irgasan DP300, II, III and IV were 1,090, 710, 650 and 430 mg/kg, respectively.The percutaneous absorptions of these tritiated compounds were also examined by the application on the backs of mice. The radioactivities in most tissues reached to the maximal levels at 12 h or 18 h after dosing, which corresponded to 11–76% of the maximal levels given by the oral administration (Kanetoshi et al. 1988a). These results show the high percutaneous absorbability of Irgasan DP300 and its chlorinated derivatives.The intraperitoneal administrations of III and IV to rats induced hepatic microsomal aminopyrine N-demethylase and aniline 4-hydroxylase activities similarly to phenobarbital. These chlorinated derivatives also increased cytochrome P-450 content, and the activities of aminopyrine N-demethylase and N-methylaniline N-demethylase in hepatic microsomes from mice. The extents of the increases were similar to those by phenobarbital and 3-methylcholanthrene. 相似文献
50.
T Kosuge M Makuuchi T Takayama J Yamamoto T Kinoshita H Ozaki 《AJR. American journal of roentgenology》1991,156(1):69-72
Thickening of the root of the superior mesenteric artery (SMA) was studied by using preoperative sonography in 23 patients with pancreatic cancer and in 10 healthy control subjects. Of the 23 with cancer, 11 had neoplastic involvement of the SMA and 12 did not. Prominent thickening of the area around the SMA with (six patients) or without (five patients) decreased echogenicity compared with the adjacent retropancreatic connective tissue was observed in patients with involvement of the SMA, a finding called the "cuff sign." Mean thickness of the periarterial area in the cancer patients with and without involvement of the SMA and in control subjects were 8.5 mm, 4.0 mm, and 2.9 mm, respectively. With an upper limit of normal of 7.0 mm for the thickness of the SMA, the sensitivity, specificity, and overall accuracy of this sign in the evaluation of involvement of the SMA were 91%, 100%, and 96%, respectively. Decreased echogenicity of the periarterial area was not observed in patients without involvement of the SMA or in control subjects. Our results show that sonographic evidence of periarterial thickening of the root of the SMA (cuff sign), especially with decreased echogenicity, is a reliable finding of tumor infiltration of the SMA in patients with pancreatic carcinoma. 相似文献