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11.
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
12.
Hiroyuki Ishizu Masatoshi Takahashi Yukifumi Kondo Akihiko Kataoka Takashi Nakamura Kuniaki Okada Hiroyuki Masuko Yasunori Nishida Hideaki Ogawa Ryoji Yokoyama Yutaka Kimura 《Surgery today》1997,27(3):285-287
Magnetic resonance cholangiopancreatography (MRCP) was performed in 35 patients to evaluate the feasibility of its use as a postsurgical imaging technique after resection of the pancreas. The surgical procedures performed were: pancreatoduodenectomy in 22 patients, segmental pancreatectomy in 1, distal pancreatectomy in 7, and pyroluspreserving pancreatoduodenectomy in 5. The pancreatic duct was shown in its entirety in 24 of the 35 patients (68.6%) and was partially visualized in 8 patients (22.9%), but the intrahepatic and extrahepatic bile ducts were visualized completely in all patients. Furthermore, MRCP was able to demonstrate lesions in 3 of 6 patients who had shown clinical evidence of recurrence. The visualization of the pancreatic and bile duct system was satisfactory despite anatomical changes brought about by resection of the pancreas. Thus, we conclude that MRCP is an appropriate follow-up screening test for patients with suspected abnormalities of the biliary and pancreatic duct system. 相似文献
13.
Akihiko Usui Fumihiko Murakami Hideki Ooshima Yasuhiro Tomita Katsuhiko Yoshida Michiaki Hibi Mitsuo Kawamura Mitsuya Muras 《Artificial organs》1997,21(7):772-778
Abstract: Cardiopulmonary support (CPS) requires durability of the oxygenator. The life span of the oxygenator is affected by various clinical factors, including patient condition, perfusion condition, and equipment usage. Predictors for the durability of oxygenators were evaluated clinically in this study. Thirty-two patients, who had undergone CPS during the last 3 years in our institute were assigned to this study. Fifty oxygenators had been used (Capiox SX in 19, CB Maxima in 23, and AL-6000 in 8). Significant predictors for the durability of oxygenators were evaluated by nonparametric survival analysis and proportional hazards regression analysis. Univariate regression analysis revealed 6 significant predictors for the life span of oxygenators. These were the oxygenator type, type of centrifugal pump, acidosis with blood pH less than 7.35, base excess less than -5, blood glutamic-oxaloacetic transaminase (GOT) levels greater than 1,000 IU, and blood lactate dehydrogenase (LDH) levels greater than 3,000 IU. After multivariate analysis, there remained only 2 significant predictors. An oxygenator used with a noncoated CPS system (Capiox SX with Capiox EBS) proved to have a significantly shorter life span than one used with a heparin-coated system (CB Maxima or AL-6000 with CB BP-80) (hazards ratio, 3.588, p = 0.0065). Patient conditions, which revealed acidosis with less than -5 of base excess, significantly shortened the life of the oxygenator (hazards ratio, 3.595, p = 0.0188). 相似文献
14.
Akihiko Hashi Tsutomu Yuminamochi Shin-Ichi Murata Hideki Iwamoto Tsuyoshi Honda Kazuhiko Hoshi 《International journal of gynecological pathology》2003,22(4):374-377
Wilms tumor gene (WT-1) expression has been reported in many human cancers, including most ovarian and peritoneal serous carcinomas, but has not been studied in carcinomas of the fallopian tube. In this study, the authors evaluated the immunohistochemical expression of WT-1 in serous carcinomas of the fallopian tube and compared their reactivity with that of ovarian, peritoneal, and endometrial serous carcinomas. All primary serous carcinomas of the fallopian tube (13 cases), ovaries (25 cases), and peritoneum (3 cases) were reactive with the WT-1 antibody, whereas all five primary endometrial serous carcinomas were nonreactive. WT-1 reactivity in an unknown primary serous carcinoma is therefore suggestive of an extrauterine site. The marked difference in WT-1 staining raises the possibility of genetic differences between serous carcinomas arising in the endometrium compared with those arising in the ovaries, fallopian tubes, and peritoneum. 相似文献
15.
Toru Hasegawa Akihiko Inufusa Yoshiyuki Imai Yoshihiro Mikawa Tae-Hong Lim Howard S An 《The spine journal》2005,5(3):239-243
BACKGROUND CONTEXT: In patients with spinal osteoporosis, the early achievement and maintenance of a biological bond between the pedicle screw and bone is important to avoid screw loosening complications. There are few reports of in vivo investigations involving biomechanical and histological evaluations in the osteoporotic spine. PURPOSE: To evaluate the effect of hydroxyapatite (HA)-coating on the pedicle screw in the osteoporotic lumbar spine and to investigate the relationship between resistance against the screw pull-out force and bone mineral density (BMD) of the vertebral body. STUDY DESIGN/SETTING: Mechanical and pathological investigations in the lumbar spine. METHODS: Two 24-month-old female beagle dogs were fed a calcium-free dog chow for 6 months after ovariectomy (OVX). BMD (in g/cm2) was measured by dual energy X-ray absorptiometry at pre-OVX and 6 months after OVX. Pedicle screws were placed from L1 to L6 at 6 months after OVX. Twenty-four pure titanium cortical screws (Synthes, #401-114) were used as pedicle screws (Ti-PS). Of these, 12 screws had HA-coating (HA-PS). The HA-PS screws were inserted into the right pedicles and the Ti-PS were inserted into the left pedicles. Ten days after this procedure, the lumbar spines were removed en bloc for screw pull-out testing and histological evaluation. RESULTS: The mean BMD value of the lumbar vertebrae 6 months after the OVX was 0.549+/-0.087 g/cm2, which was significantly less than the pre-OVX mean BMD of 0.603+/-0.092 g/cm2 (p < 0.001). The mean resistance against the pull-out force for the HA-PS was significantly greater at 165.6+/-26.5N than in the Ti-PS (103.1+/-30.2N, p < .001). The histological sections in the HA-PS clearly revealed new bone bonding with the apatite coating but only fibrous tissue bonding in the Ti-PS. CONCLUSIONS: The results of this study showed that the resistance to the pull-out force of HA-PS is 1.6 times that of Ti-PS. Furthermore, HA-PS has superior biological bonding to the surrounding bone, as early as 10 days after surgery in this osteoporotic spine model. Thus, in patients with osteoporosis, coating of the pedicle screw with HA may provide better stability and bonding between the pedicle screw and bone in the early postoperative period. 相似文献
16.
Akihiko Suto Akira Tsuyuki Nobuyoshi Hiraoka Yasuhiro Hosoda Kiyoshi Kikuchi Yasuo Fujishir 《Surgery today》1994,24(10):915-917
A case of cystadenocarcinoma of the appendix with a large cystic lesion is reported. A 49-year-old man undergoing a routine ultrasonic scan was incidentally found to have an abdominal mass measuring some 30 cm in size. The clinical presentation was asymptomatic, and the patient underwent a laparotomy without ascertaining a diagnosis preoperatively. The lesion, which derived from the appendix, was removed and was found to be cystic and contained huge amounts of mucin. The histological findings revealed a well-differentiated cystadenocarcinoma of the appendix, and immunohistochemical staining of the epithelium and mucinous implants in the mass demonstrated a positive reaction for carcinogenic antigens, including carcinoembryonic antigen and carbohydrate antigen. 相似文献
17.
Yoshimitsu Kuroyanagi DR. ENG DR. SCI DR. MED ; Akihiko Shiraishi MD ; Yoshiteru Shirasaki MD ; Nobuaki Nakakita MD ; Yoshiaki Yasutomi MD ; Yasuo Takano MD ; Nobuyuki Shioya MD FACS 《Wound repair and regeneration》1994,2(2):122-129
A bilaminar wound dressing composed of an outer membrane and an inner three-dimensional matrix of a fabric or a sponge may be considered to constitute an ideal structure that promotes wound healing: the outer membrane prevents body fluid loss, controls water evaporation, and protects the wound surface from bacterial invasion, and the inner matrix encourages adherence by tissue growth into the matrix. Using this concept, we developed a biosynthetic wound dressing with a drug delivery capability. This medicated wound dressing is composed of a spongy sheet of a chitosane derivative and collagen mixture that is laminated to an antimicrobial-impregnated polyurethane membrane. In this study, a gentamycin sulfate-impregnated wound dressing was prepared and evaluated. The antimicrobial efficacy of this wound dressing was examined on an agar plate seeded with Pseudomonas aeruginosa. Also, the cytotoxicity of an antimicrobial released from this wound dressing was examined in an in vitro system with cultured skin substitutes. Both in vitro tests have shown that this wound dressing is capable of suppressing bacterial growth and minimizing cellular damage. In addition, in the treatment of wounds inflicted on rats and rabbits, this wound dressing was shown to be efficacious in covering full-thickness and split-thickness skin defects. Finally, the efficacy of this wound dressing was evaluated in a nonrandomized open-label study of 31 clinical cases. In 31 cases treated with this wound dressing, good or excellent wound healing was achieved. 相似文献
18.
Yoshiyuki Kaneko Tomohiro Nakayama Kosuke Saito Akihiko Morita Ichiro Sato Aya Maruyama Masayoshi Soma Teruyuki Takahashi Naoyuki Sato 《Hypertension research》2006,29(9):665-671
The risk of cerebral infarction (CI) in an individual is dependent on the interplay between genetic risk factors and environmental influences. Binding of thromboxane A2 (TXA2) to its receptor (TP) modulates thrombosis/hemostasis and plays a significant role in the pathogenesis of CI. The aim of the present study was to investigate the relationship between human TP gene single nucleotide polymorphisms (SNPs) and haplotypes and CI in a Japanese population. A genetic association study was performed in 194 CI patients and 365 non-CI subjects by specifically characterizing 6 SNPs in the human TP gene (rs2271875, rs768963, rs2238634, rs11085026, rs4523 and rs4806942). Analysis demonstrated that there were significant differences in the overall distribution of genotypes and dominant or recessive models of rs2271875 and rs768963 between the CI and the non-CI groups. Multiple logistic regression analysis revealed that the C allele of rs768963 was significantly associated with CI (p = 0.029), even after adjusting for confounding factors (odds ratio: 2.41). Further, the C-T-C haplotype of rs768963-rs2238634-rs4806942 was significantly more frequent in the CI group (23.0%) than in the non-CI group (17.7%). These results suggest that specific SNPs and haplotypes may have utility as genetic markers for the risk of CI and that TP or a neighboring gene is associated with the increased susceptibility to CI. 相似文献
19.
Atsushi Takai Yoshihiro Okabe Nobuhiro Aoki Mariko Takada Shuji Yamamoto Naoya Kimoto Mikio Fujita Akihiko Okada Chiharu Kawanami Yukinobu Takimoto Akio Orino 《Nihon Shokakibyo Gakkai zasshi》2007,104(10):1498-1503
A 77-year-old man, who underwent segmental pancreatectomy for intraductal papillary mucinous adenoma in 2001, was referred to our hospital with complaints of hematemesis and melena on January, 2004. Emergency upper gastrointestinal endoscopy showed a pulsating submucosal protrusion in the duodenal bulb, which was identified as a gastroduodenal arterial aneurysm measuring 1.5cm on abdominal CT imaging. Transcatheter arterial embolization of the aneurysm with metallic coils was successfully performed. Periodically repeated endoscopic examination has revealed the coils protruding into the duodenal lumen without any serious complication. 相似文献
20.