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The association of MTHFR and CBS variants with the doubling time and responsiveness to several chemodrugs was analyzed in 26 human cancer xenografts. The tumors homozygous for the absence of insertion (NN) for the CBS 844ins68bp were more chemosensitive than those with insertion (NI) to TS-1 (P=0.0048), suggesting a potential effect of this variant on fluoropyrimidine efficacy. Furthermore, the doubling time of tumors with a variant C allele (AC or CC) in MTHFR-A1298C was significantly longer than that of tumors with a normal allele (AA) (P=0.0008). Twenty-nine cellular proliferation-related genes were associated with MTHFR-A1298C genotyping and with the doubling time. 相似文献
4.
Chieko Nakamura Yoshiharu Kawaguchi Hirokazu Ishihara Hiroshi Sainoh Tomoatsu Kimura 《Journal of orthopaedic science》2004,9(6):629-634
We report two cases of rheumatoid arthritis (RA) with upper thoracic myelopathy and a review of the literature. Clinical data of a 47-year-old woman (case 1) and a 54-year-old woman (case 2) are described. Case 1 showed a transverse-type myelopathy at the T2 segment level of the spinal cord and case 2 had the same type of myelopathy at the T4 segment level. Case 1 had anterior vertebral subluxation of C7 due to marked vertebral collapse and Case 2 had subluxation of T2 with vertebral destruction. These two patients had the mutilating type of RA with multilevel spontaneous fusion in the cervical spine. The lesions in the thoracic spine might be caused by the severe destructive inflammation that is characteristic in mutilating disease. The vertebral collapse might lead to subluxation of the upper thoracic vertebra, resulting in spinal cord compression. Upper thoracic subluxation might be caused by vertebral collapse due to RA and the increased motion as a compensation for decreased mobility caused by spontaneous fusion in the cervical spine. 相似文献
5.
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. 总被引:3,自引:1,他引:2
Nobuki Maki Atsushi Komatsuda Hideki Wakui Hiroshi Ohtani Akihiko Kigawa Namiko Aiba Keiko Hamai Mutsuhito Motegi Akihiko Yamaguchi Hirokazu Imai Ken-ichi Sawada 《Nephrology, dialysis, transplantation》2004,19(7):1761-1766
BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive disorder resulting from inactivating mutations in the thiazide-sensitive Na-Cl co-transporter (NCCT) gene. To date, almost 90 mutations have been identified. It is possible that there is a population-specific distribution of mutations. In this study, we analysed mutations in the NCCT gene of seven Japanese patients with GS. METHODS: Peripheral blood mononuclear cells were isolated from patients with GS, their family members and healthy control subjects. A mutation analysis of the NCCT gene was performed completely by direct automated sequencing of polymerase chain reaction-amplified DNA products. In patients with a deletion or splice site mutation, we undertook cDNA sequence analysis. RESULTS: We identified nine mutations. Five of them [c.185C>T (Thr60Met), c.1712C>T (Ala569Val), c.1930C>T (Arg642Cys), c.2552T>A (Leu849His) and c.1932delC] have been reported in Japanese patients, but not in GS patients from other ethnic groups. The remaining four mutations [c.7A>T (Met1Leu), c.1181_1186+20del26, c.1811_1812delAT and IVS16+1G>A] were novel. In cDNA derived from a patient with c.1181_1186+20del26, a deletion of exon 9 and a frameshift at the start of exon 10 were observed. In cDNA derived from patients with IVS16+1G>A, an additional 96 bp insertion between exons 16 and 17 was observed. Six out of seven patients were compound heterozygotes, and the remaining one carried a single heterozygous mutation. CONCLUSIONS: We found four novel mutations in the NCCT gene in seven Japanese patients with GS. Moreover, our study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations. 相似文献
6.
Tetsuji Kai Yang Il Kim Hirokazu Kitamura Katsunori Kawano Seigo Kitano 《Journal of Hepato-Biliary-Pancreatic Surgery》1997,4(4):423-430
There is a growing body of evidence that the cytokine, tumor necrosis factor-α (TNF-ga), plays an important role in the development
of hepatic ischemia/reperfusion injury. We found that the immunosuppressants, cyclosporine-A (CsA), azathioprine, and FK506,
have protective effects on such injury. The purpose of the present study was to elucidate mechanisms involved in these beneficial
effects of the immunosuppressant, CsA, on liver injury following cold preservation and transplantation, with special reference
to the suppression of TNF-α release. Rat livers were stored in Euro-Collins solution (EC) at 4°C for 6h and orthotopically
transplanted. The animals allotted to two groups: group A (untreated controls) and group B (CsA pretreatment of recipients).
CsA (10 mg/kg, p.o.) was given for 3 consecutive days preoperatively. CsA pretreatment of the recipients significantly improved
the 2-week survival rate (0/6 for group A, 3/6 for group B;P<0.05) and this was associated with a significant decrease in serum TNF-α levels 2h posttransplantation (group A, 69.8±15.7
pg/ml; group B, 22.8±6.8; mean±SEM;n=12 each;P<0.05) and amelioration of sinusoidal endothelial injury, assessed by electron microscopy. Plasma endotoxin levels following
reperfusion of the grafts were not altered by the CsA therapy. Morphologically, CsA pretreatment of the recipients did not
alter activation of Kupffer cells. CsA pretreatment of the recipient aids in preventing cold preservation/reperfusion injury
of the liver graft, possibly by modulating effects of TNF-α. 相似文献
7.
Akihiro Hosaka M.D. Tetsuro Miyata M.D. Hiroshi Shigematsu M.D. Jun-o Deguchi M.D. Hideo Kimura M.D. Hirokazu Nagawa M.D. Osamu Sato M.D. Takehiko Sakimoto M.D. Tomoyuki Mochizuki M.D. 《Journal of gastrointestinal surgery》2006,10(4):583-585
The vascular type of Ehlers-Danlos syndrome is a genetic disorder of connective tissue and is frequently associated with catastrophic
arterial complications. Its surgical treatment is extremely difficult because of the fragility of vessels. This article describes
three patients with vascular type of Ehlers-Danlos syndrome who developed mesenteric hemorrhage due to spontaneous arterial
rupture. The clinical and molecular characteristics of the disease are briefly reviewed. 相似文献
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Yasuyuki Kato Satoru Miyamoto Hirokazu Minamimura Takumi Ishikawa Kensuke Ohue Yoshihiro Shimizu 《The Japanese Journal of Thoracic and Cardiovascular Surgery》2005,53(1):46-48
In embryology, a persistent connection of the left superior vena cava to the left atrium rarely coexists with a coronary sinus.
We herein report an unusual case of persistent left superior vena cava terminating in a left atrium with normal coronary sinus,
which was revealed at the time of permanent pacemaker implantation after a second operation for recurrent left atrioventricular
valve regurgitation. Because this anomaly had gone undiagnosed at the first operation, we were unable to diagnose it prior
to the second operation, because the preoperative coronary angiogram clearly demonstrated a coronary sinus that was not dilated.
We would have repaired the anomaly using a patch or other procedure had it been diagnosed before the second operation in order
to prevent cyanosis or brain complications secondary to right-to-left shunting. One should always be on guard for this rare
condition. 相似文献
10.
Akihisa Okumura Ikuya Tsuge Tetsuo Kubota Hirokazu Kurahashi Jun Natsume Tamiko Negoro Kazuyoshi Watanabe 《European journal of paediatric neurology》2007,11(6):385-388
We evaluated drug-specific T cell responses in a patient with refractory partial seizures and paroxysmal kinesigenic choreoathetosis successfully treated with clinical desensitization to phenytoin. Drug-induced lymphocyte transformation test before desensitization was negative with a stimulation index of 130%. The frequencies and cytokine-producing phenotypes of phenytoin-specific T cells were examined simultaneously by using a carboxyfluorescein succinimidyl ester (CFSE) dilution assay. Before desensitization, the proportion of CFSElow CD4+ cells in whole CD4+ was 3.09%; 13.6% of CFSElow CD4+ cells were stained with anti-interferon gamma antibody. After desensitization, phenytoin-specific CFSElow CD4+ cells decreased to background level. These results indicate that CFSE dilution assay will be useful for the diagnosis and monitoring of drug hypersensitivity. 相似文献