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71.
72.
Motohiro Akagi K. Inui Toshinori Nishigaki Takashi Muramatsu Chikara Kokubu L. Fu Hisao Fukushima Itaru Yanagihara Hiroko Tsukamoto Hiroki Kurahashi Shintaro Okada 《Journal of human genetics》1999,44(5):323-326
Fucosidosis is a rare autosomal recessive disorder resulting from a deficiency of α-L-fucosidase. Recently, various mutations
have been reported in this disease, but it is difficult to elucidate the phenotype from the genetic mutations. We report a
patient with chronic infantile type fucosidosis, with a compound heterozygote of a nonsense mutation (W148X, Trp at codon
148 to stop codon) and a large deletion, including all exons. This is the first report of a large deletion demonstrated in
fucosidosis. It is interesting that this patient has a relatively mild clinical course despite the absence of the mRNA. This
case also indicates the difficulty in determining the phenotype from the genotype in fucosidosis.
Received: February 19, 1999 / Accepted: April 16, 1999 相似文献
73.
Kunisaki C Makino H Kosaka T Oshima T Fujii S Takagawa R Kimura J Ono HA Akiyama H Taguri M Morita S Endo I 《Surgical endoscopy》2012,26(3):804-810
Background
The aim of this study was to clarify the technical feasibility and oncological efficacy of laparoscopy-assisted gastrectomy (LAG) for gastric cancer compared with open gastrectomy (OG).Methods
Between April 2002 and March 2008, a series of 623 patients with gastric cancer underwent R0 gastrectomy (314 LAG patients and 309 OG patients). Age, gender, lymph node dissection, and pathological stage were matched by propensity scoring, and 212 patients (106 LAG and 106 OG) were selected for analysis after the exclusion of 40 patients who had proximal gastrectomy. Intraoperative factors, postoperative morbidity, long-term quality of life (QOL), and survival were evaluated. Moreover, these outcomes were also compared between the laparoscopy-assisted total gastrectomy (LATG) and the open total gastrectomy (OTG).Results
There was no significant difference in preoperative characteristics between the two patient groups. Regarding intraoperative characteristics, blood loss was significantly lower in the LAG group (143?ml) than in the OG group (288?ml), while operation time was significantly longer in the LAG group (273?min) than the OG group (231?min). The degree of lymph node dissection and number of retrieved lymph nodes did not differ between the two groups. There were no significant differences in postoperative courses or overall and disease-specific survival (89.8% vs. 83.6%, P?=?0.0886; 100% vs. 95.2%, P?=?0.1073) except time to first flatus and time to use of nonsteroidal anti-inflammatory derivatives between the two groups. Significantly fewer patients felt wound pain in the LAG group 1?year after surgery. Analyses between the LATG and OTG groups showed similar results.Conclusions
LAG for gastric cancer may be both feasible and safe. However, it will be necessary to conduct a well-designed randomized controlled trial comparing short-term and long-term outcomes between LAG and OG in a larger number of patients. 相似文献74.
Clinicopathological features of gastric carcinoma in younger and middle-aged patients: A comparative study 总被引:2,自引:0,他引:2
Chikara Kunisaki M.D. Ph.D. Hirotoshi Akiyama M.D. Ph.D. Masato Nomura M.D. Goro Matsuda M.D. Yuichi Otsuka M.D. Hidetaka Andrew Ono M.D. Ph.D. Ryo Takagawa M.D. Yutaka Nagahori M.D. Ph.D. Masazumi Takahashi M.D. Ph.D. Fumihiko Kito M.D. Ph.D. Hiroshi Shimada M.D. Ph.D. 《Journal of gastrointestinal surgery》2006,10(7):1023-1032
Gastric carcinoma is relatively rare in patients under the age of 40. This study was undertaken to clarify the clinicopathological
characteristics and surgical outcomes of gastric carcinoma in younger patients compared with those of middle-aged patients.
The surgical results from 131 younger patients (aged ⩽40 years) and 918 middle-aged patients (aged 55–65 years) were compared
retrospectively. Female gender, undifferentiated tumor type and lymphatic invasion were significantly more common in the younger
patients. Survival time did not differ between the two groups. The depth of tumor invasion was the only prognostic factor
in younger patients, whereas macroscopic appearance, tumor diameter, depth of invasion, lymph node metastasis, and venous
invasion were all significant prognostic factors in middle-aged patients. Peritoneal recurrence was significantly more common
in younger patients. A family history of gastric adenocarcinoma was observed in 25.9% of younger patients, but this did not
affect survival outcomes. As depth of invasion affects prognosis independently, and peritoneal metastasis is the predominant
pattern of recurrence, it is essential to establish an optimal prophylactic treatment for peritoneal metastasis to improve
surgical outcomes in younger patients with advanced gastric cancer. 相似文献
75.
Long-term outcome for surgically treated cervical spondylotic radiculopathy and myelopathy 总被引:3,自引:0,他引:3
Long-term follow-up results were examined to verify the efficacy of anterior osteophytectomy for cervical spondylotic myelopathy and radiculopathy, in particular the outcome for patients with developmentally narrow cervical canals and patients with associated ossification of the posterior longitudinal ligament (OPLL). One hundred thirty-nine patients who had undergone anterior osteophytectomy with interbody fusion between 1976 and 1990 were followed up for 1 to 22.5 years (mean 11.4 years). Overall results evaluated by the neurosurgical cervical spine scale scoring and grading showed significant improvement in both improvement score (2.7 +/- 2.3) and improvement rate (52.3 +/- 45.7%). Lower extremity motor function improved in 66.1% of patients, upper extremity motor function in 82.0%, and sensory/pain function in 70.5%. Improvement ranged from one to three grades. Severely affected patients showed good recovery. Outcome for patients with narrow cervical canals (41 patients, 29.5%) did not differ significantly from that for patients with normal canals (98, 70.5%). Patients with associated OPLL (32 patients, 23.0%) had approximately the same outcomes as those with only spondylosis (107, 77.0%). Fifteen patients (10.8%) underwent reoperation because of myelopathy due to disc degeneration adjacent to the fused level (11 patients) or OPLL (4 patients). Anterior osteophytectomy with interbody fusion can achieve good outcomes in patients with cervical spondylotic myelopathy and radiculopathy, regardless of the size of the spinal canal and association with OPLL. 相似文献
76.
Shinichi Hasegawa MD Takaki Yoshikawa MD PhD Yasushi Rino MD Takashi Oshima MD PhD Toru Aoyama MD Tsutomu Hayashi MD Tsutomu Sato MD Norio Yukawa MD Yoichi Kameda MD PhD Takeshi Sasaki MD PhD Hidetaka Ono MD PhD Kazuhito Tsuchida MD Haruhiko Cho MD Chikara Kunisaki MD PhD Munetaka Masuda MD PhD Akira Tsuburaya MD 《Annals of surgical oncology》2013,20(13):4252-4259
Objective
The purpose of this study was to clarify the priority of nodal dissection in Siewert types II and III adenocarcinoma of the esophagogastric junction (AEG).Methods
The priority of nodal dissection was evaluated based on the therapeutic value index calculated by multiplying of the frequency of metastasis to each station and the 5-year survival rate of patients with metastasis to that station.Results
A total of 176 patients (95 type II and 81 type III) were examined. Among the lymph nodes that had a metastatic incidence exceeding 10 %, the stations showing the first to fourth highest index were the paracardial and lesser curvature nodes (Nos. 1, 2, and 3) and the node at the root of the left gastric artery (No. 7) in the total cohort, as well as in each type. The next station was the lower thoracic paraesophageal lymph node (No. 110), followed by the nodes along the proximal splenic artery (No. 11p) in type II, whereas it was the nodes along the proximal splenic artery (No. 11p) followed by the para-aortic nodes (No. 16a2), the nodes at the celiac artery (No. 9), and the nodes around the splenic hilum (No. 10) in type III.Conclusions
These results suggest that the highest priority nodal stations to be dissected were the paracardial and lesser curvature nodes (Nos. 1, 2, and 3) and the nodes at the root of the left gastric artery (No. 7), regardless of the Siewert subtype, but the subsequent priority was different depending on the subtype. 相似文献77.
Fukuda N Hu WY Teng J Chikara S Nakayama M Kishioka H Kanmatsuse K 《Atherosclerosis》2002,163(2):229-239
Troglitazone, a thiazolizidinedione, has recently been reported to possess anti-arteriosclerotic properties. To evaluate mechanisms underlying the anti-arteriosclerotic effects of troglitazone, we examined the effect of troglitazone on growth, expression of growth factors, and insulin signaling in vascular smooth muscle cells (VSMC) from spontaneously hypertensive rats (SHR) which produce angiotensin II (Ang II) in a homogeneous culture. Troglitazone inhibited basal and serum-stimulated DNA synthesis and inhibited increases in the number of VSMC from SHR and normotensive Wistar-Kyoto (WKY) rats. Its inhibition was greater in VSMC from SHR. Troglitazone abolished DNA synthesis in response to Ang II in VSMC from both rat strains and markedly inhibited DNA synthesis in response to epidermal growth factor (EGF) and platelet-derived growth factor (PDGF)-AA in VSMC from SHR. Troglitazone did not alter the expression of transforming growth factor (TGF)-beta1, PDGF A-chain, or basic fibroblast growth factor (bFGF) mRNAs in VSMC from WKY rats, but it markedly decreased expression of these growth factor mRNAs in VSMC from SHR. Troglitazone markedly decreased basal and Ang II-stimulated expression of extracellular signal-regulated kinase proteins in VSMC from both rat strains. Troglitazone abolished Ang II-induced suppression of phosphatidilinositol 3-kinase (PI3-kinase) activity, insulin receptor substrate-1 (IRS-1) associated tyrosine phosphorylation, and IRS-1 associated p85 levels in VSMC from WKY rats. Basal PI3-kinase activity, tyrosine phosphorylation of IRS-1, and IRS-1 associated p85 levels were lower in VSMC from SHR than in cells from WKY rats. Troglitazone significantly increased PI3-kinase activity, IRS-1 associated tyrosine phosphorylation, and IRS-1 associated p85 levels in VSMC from SHR. These results indicate that troglitazone produce its anti-arteriosclerotic effects through suppression of the action of growth-promoting factors including Ang II, and that troglitazone inhibits Ang II-induced suppression of insulin signaling in VSMC from SHR, suggesting that tissue Ang II may lead to insulin resistance and to arteriosclerosis in hypertension. Troglitazone may be useful in the treatment of insulin resistance as well as of hypertensive vascular diseases. 相似文献
78.
Fukuda N Nakayama M Jian T Satoh C Nakayama T Soma M Izumi Y Kanmatsuse K 《American journal of hypertension》2003,16(2):129-134
Insulin resistance is involved in the pathogenesis of type 2 diabetes, hypertension, and atherosclerosis. Angiotensin (Ang) converting enzyme inhibitors and Ang II type 1 receptor antagonists improve insulin resistance in patients with essential hypertension, which suggest that tissue Ang II is involved in insulin resistance in patients with hypertension. To investigate the participation of tissue Ang II in insulin resistance associated with hypertension, we evaluated the Ang II-generating system in leukocytes and its relation to insulin resistance in patients with essential hypertension. Eighteen patients with essential hypertension participated in this study. Ang II was separated from leukocytes by reversed-phase high-performance liquid chromatography and measured by radioimmunoassay. Insulin resistance was evaluated by determining the steady-state of plasma glucose (SSPG) concentration. The Ang I- and Ang II-generating activities were evaluated in human leukocytes. Human leukocytes have Ang I- and Ang II-generating activities. The Ang II-generating activity was significantly inhibited by pepstatin A. Leukocyte Ang II level does not correlate with BP or plasma Ang II level in patients with essential hypertension. Leukocyte Ang II level strongly correlates with SSPG concentration, and significantly correlates with body mass index and plasma insulin, and with leptin levels in patients with essential hypertension. Leukocyte Ang II may be directly associated with insulin resistance. 相似文献
79.
80.