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1.
Kei Kamide Yoshihiro Kokubo Hironori Hanada Junko Nagura Jin Yang Shin Takiuchi Chihiro Tanaka Mariko Banno Yoshikazu Miwa Masayoshi Yoshii Tetsutaro Matayoshi Hisayo Yasuda Takeshi Horio Akira Okayama Hitonobu Tomoike Yuhei Kawano Toshiyuki Miyata 《Hypertension research》2006,29(4):243-252
Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic variations in HDS11B2 are implicated in essential hypertension in Japanese hypertensives and the general population. By sequencing the entire coding region and the promoter region of HDS11B2 in 953 Japanese hypertensives, we identified five missense mutations in 11 patients (L14F, n = 5; R74H, n = 1; R147H, n = 3; T156I, n = 1; R335H, n = 1) and one novel frameshift mutation (4884Gdel, n = 1) in a heterozygous state, in addition to 19 genetic variations. All genetic variations identified were rare, with minor allele frequencies less than 0.005. Four of 12 patients with the missense/frameshift mutations showed renal failure. Four missense mutations, L14F, R74H, R147H, and R335H, were successfully genotyped in the general population, with a sample size of 3,655 individuals (2,175 normotensives and 1,480 hypertensives). Mutations L14F, R74H, R147H, and R335H were identified in hypertensives (n = 6, 8, 3, and 0, respectively) and normotensives (n = 8, 12, 5, and 0, respectively) with a similar frequency, suggesting that these missense mutations may not strongly affect the etiology of essential hypertension. Since the allele frequency of all of the genetic variations identified in this study was rare, an association study was not conducted. Taken together, our results indicate that missense mutations in HSD11B2 do not substantially contribute to essential hypertension in Japanese. 相似文献
2.
3.
Preliminary results of intermittent retrograde cerebral perfusion during proximal aortic arch surgery. 总被引:1,自引:0,他引:1
Shinpei Yoshii Okihiko Akashi Masahiro Kobayashi Atsuo Kojima Samuel J K Abraham Shunya Shindo Yusuke Tada Hiroji Higuchi 《The Japanese Journal of Thoracic and Cardiovascular Surgery》2003,51(11):588-593
OBJECTIVE: Continuous retrograde cerebral perfusion during aortic arch surgery is associated with cerebral edema. In this report, we describe the clinical use of a new type of intermittent retrograde cerebral perfusion. SUBJECTS AND METHODS: Fourteen patients with a Stanford type A dissection were included in this study. With the usual method of retrograde cerebral perfusion, about 2,500 mL venous blood is drained from bicaval cannulae into a hard-shell reservoir, and oxygenated blood is perfused through the superior vena caval cannula. The flow rate is 300 mL/min. After about 15 min, retrograde perfusion is discontinued, and drainage from the bicaval cannulae is restarted. When a bloodless field is necessary, perfusion also is discontinued. RESULTS: Two to seven cycles of intermittent retrograde cerebral perfusion were administered (average, 3.1+/-0.4, mean+/-SD). The total retrograde perfusion time was 36.0+/-1.9 min which was equivalent to 74.8% of the circulatory arrest time. No patient developed edema of the upper body. The time to wake-up was 3 to 14 h (average, 6.5+/-1.0 h). No patient suffered any neurologic complications even though the time of circulatory arrest was greater than 60 min in four cases. Head magnetic resonance imaging or computed tomography was performed in 12 cases, and no evidence of hypoxic brain injury was detected. CONCLUSIONS: Our clinical experience using a moderate amount of intermittent retrograde cerebral perfusion is superior to continuous retrograde cerebral perfusion for protecting the brain during aortic arch surgery. 相似文献
4.
S Yoshii T Fuzii T Saitoh R Yamamoto N Ishida Y Hosoi M Tahara 《Nihon Hinyōkika Gakkai zasshi. The japanese journal of urology》1992,83(3):374-382
Thirty-five patients with benign prostatic hyperplasia (age range: 45-88 years; average: 67.5 years) underwent local thermotherapy with prostathermer. Clinical therapeutic effect was evaluated in 30 of the 35 patients: 2 patients interrupting from therapy and 3 receiving pretherapeutic indwelling catheters were not included. A total of 6 treatments (2 per week) were performed, each lasting for 60 minutes. As for subjective improvement, improvement of nocturia was noted in 70.0% of all patients and sense of residual urine in 70.7%. Post-therapeutic nocturnal and daytime decreases in urination frequency were statistically significant (p less than 0.01). Objective improvement in residual urine volume occurred in 19 of the 30 cases, and elevation in uroflowmetric maximal flow rate following therapy was statistically significant (p less than 0.05). Among complications ascribable to catheter insertion were urethral bleeding (3 cases), epididymitis (1 case) and pyuria (1 case). Therapeutic result based primarily on subjective symptoms and partly on objective findings was fairly good in 17 cases (about 57%), and slightly good in 25 cases (about 83%). In conclusion, this therapy seems to be useful in the treatment of benign prostatic hyperplasia. 相似文献
5.
Late Effects of Childhood Acute Leukemia and Its Treatment 总被引:1,自引:0,他引:1
Masao Yamamoto M.D. Yoshitaka Fukunaga M.D. Ichiroh Tsukimoto M.D. Fumio Bessho M.D. Jun-ichi Akatsuka M.D. Ryohta Hosoya M.D. Shinpei Nakazawa M.D. Minoru Sakurai M.D. Kazuhiro Ueda M.D. Sumio Miyazaki M.D. Masaru Yokoyama M.D. Hideo Mugishima M.D. Kohzoh Nishimura M.D. 《Pediatrics international》1991,33(4):573-588
Late effects of childhood acute leukemia and its treatment were studied in 766 patients (684 ALL, 73 ANLL, and 9 others) in Japan who had remained in remission for more than 1 year after their first complete remission. Delayed adverse sequelae involve a wide variety of organs and their functions. Short stature was present in 2.61%, obesity in 3.79%, abnormalities of growth hormone secretion in 1.5%, delayed secondary sex characteristics in 1.5% of males and 0.6% of females, motor disturbances in 1.17%, sensory disturbances in 0.91%, intellectual and learning disabilities in 2.48%, abnormal findings in routine neurologic examinations in 1.31%, EEG abnormalities in 4.30%, brain CT abnormalities in 5.09% and cardiac dysfunction in 1.07%. Various other disorders were seen in 20 patients. Many of these delayed adverse sequelae are caused by or related to central nervous system prophylaxis and systemic combination chemotherapy. The results suggest that it is needed to improve therapeutic methods through the stratification of patients by risk factors and detailed analysis of prognostic factors. Moreover it is important to render medical and psychosocial support to long-term survivors of childhood leukemia through interactions between the patient, parents and medical staff. 相似文献
6.
Satoko Kobori Fumihito Yoshii Hirohide Takahashi Shigeharu Takagi Kei Funakoshi 《Clinical neurology》2007,47(1):53-55
We report a patient who developed overlapping symptoms of ophthalmoplegia and oropharyngeal palsy after Campylobacter jejuni infection. A 15-year-old man had diarrhea and fever, and developed dysarthria, diplopia and ptosis two weeks later. He did not show ataxia, weakness or abnormal tendon reflexes in the extremities during the clinical course. In the acute phase of the disease, we found significant elevation of anti-GQlb and anti-GTla IgG antibodies in the serum, and high-dose intravenous immunoglobulin therapy remarkably ameliorated the symptoms. Our patient was atypical of Fisher syndrome or pharyngeal-cervical-brachial (PCB) weakness, and this is the first case of multiple cranial neuropathy associated with C. jejuni infection. 相似文献
7.
M. Yamada Y. Kaku K. Nakamura M. Yoshii Y. Yamamoto A. Miyazaki H. Tsunemitsu M. Narita 《Transboundary and Emerging Diseases》2007,54(10):571-574
Porcine teschovirus (PTV) antigens were detected by a streptavidin‐biotin complex method in formalin‐fixed paraffin‐embedded tissues of 3‐week‐old pigs that had been inoculated intravenously with PTV Talfan strain. PTV antigens were detected in cytoplasm of nerve cells, glial cells and endothelial cells in the cerebellar nuclei, the grey matter of the midbrain, pons and medulla oblongata and the ventral horn of the spinal cord and of ganglion cells in the spinal ganglion corresponding to those lesions characterized as non‐suppurative encephalomyelitis and ganglionitis. The results of this study suggest that nerve cells of the brain stem and spinal cord and ganglion cells of the spinal ganglion permit PTV replication and represent the main target cell population of PTV. This is the first study to demonstrate PTV antigen by immunohistochemistry in formalin‐fixed paraffin‐embedded tissue specimens from pigs infected with PTV. 相似文献
8.
Regulation of macrophage phagocytosis of syngeneic erythrocytes by T-cell subsets from NZB mice: differential effects of T cells from young and old mice.
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The regulation of syngeneic erythrophagocytosis (EP) by macrophages (M phi) harvested from young and old NZB mice was examined by spectrophotometric assay and morphological observation. Peritoneal exudate M phi from young NZB mice weakly ingested syngeneic red blood cells (RBC). T cells derived from old NZB mice accelerated ingestion of RBC by young M phi. On the contrary, T cells from young NZB mice suppressed EP by young T cells appeared clearly when they were added to M phi derived from old mice, which ingested syngeneic RBC actively without help by old NZB T cells. Namely, such an active EP by old M phi was completely suppressed when they were incubated with young T cells. Simultaneous addition of both young and old T cells to either young or old NZB M phi with RBC suppressed the EP. Pretreatment of young T cells with anti-Lyt 1.2 antibody and complement (C) made the suppressive activity prominent, and preincubation with anti-Lyt 2.2 and C eliminated the suppressive activity, but gave rise to the enhancing activity. Young T-cell homogenates added to younger or old M phi together with RBC did not reveal suppressive activity for EP, and on the contrary facilitating activity appeared predominantly. Young and old T-cell homogenates added together to young M phi did not suppress EP. The largest of T-cell-factor accelerating EP was M phi, but not RBC. M phi with active EP belong to Ia-bearing subpopulations. 相似文献
9.
A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population 总被引:3,自引:0,他引:3
Shioji K Nishioka J Naraba H Kokubo Y Mannami T Inamoto N Kamide K Takiuchi S Yoshii M Miwa Y Kawano Y Miyata T Miyazaki S Goto Y Nonogi H Tago N Iwai N 《Journal of human genetics》2004,49(3):141-147
To investigate the effects of polymorphisms in the ATP-binding cassette transporter A1 (ABCA1) gene on the high-density lipoprotein cholesterol (HDL-C) level and the incidence of myocardial infarction (MI), we performed association studies. Sequence analysis identified 14 polymorphisms in the promoter region of ABCA1. After considering linkage disequilibrium, three polymorphisms in the promoter region and 11 polymorphisms from the JSNP database were determined in 1,880 subjects recruited from the Suita Study, representing the general population in Japan. We evaluated the association between the ABCA1 genotype and HDL-C level adjusted not only for standard factors, but also for genetic factors including ApoA1 and ApoE genotypes. Of the 14 polymorphisms tested, the G(–273)C (P=0.0074), C(–297)T (P=0.0195), and IMS-JST071749
(P=0.0093) polymorphisms were significantly associated with the HDL-C level in the Suita population. We could reconfirm that the G(–273)C genotype was influential in another set of subjects (P=0.0310, n=743). However, the distribution of the ABCA1 G(–273)C
genotype in subjects with MI (n=598) was not different from that in the control population (n=801). These results indicate that ABCA1 G(–273)C
has a significant effect on the HDL-C level in the general Japanese population, but not on the incidence of MI. 相似文献
10.