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排序方式: 共有1349条查询结果,搜索用时 15 毫秒
71.
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures 总被引:8,自引:0,他引:8
Nakayama J Fu YH Clark AM Nakahara S Hamano K Iwasaki N Matsui A Arinami T Ptácek LJ 《Annals of neurology》2002,52(5):654-657
A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures. The human orthologous gene, MASS1, was mapped to chromosome 5q14, for which we previously have reported significant evidence of linkage to febrile seizures (FEB4). We screened for MASS1 mutations in individuals from 48 families with familial febrile seizures and found 25 DNA alterations. None of nine missense polymorphic alleles was significantly associated with febrile seizures; however, a nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. Our results suggest that a loss-of-function mutation in MASS1 might be responsible for the seizure phenotypes, though it is not likely that MASS1 contributed to the cause of febrile seizures in most of our families. 相似文献
72.
Hamano N Murao K Sakamoto S Wakeno M Nawa T Shingu K 《Masui. The Japanese journal of anesthesiology》2002,51(9):1026-1028
A 42-year-old woman with an Arnold-Chiari abnormality was scheduled for cervical spine surgery. She had severe ankylosing spondylitis, and all her joints from ankles to occipitocervical joint were fixed except hip joints, which had been replaced with artificial joints 20 years before. She could bend her upper body only in a range from -20 to 70 degree from the sitting position. Her posture had been restricted to only sitting for over 20 years, and she complained vertigo when positioned in supine position. The trachea was intubated with an aid of bronchofiberscopy under sedation in sitting position, and then anesthesia was induced with propofol and fentanyl. When she was turned to prone position, nasal bleeding was noticed and the surgery was performed in a modified sitting position. The intra- and post-operative course was uneventful. The present case indicates that long-term restriction only to sitting position modulates circulatory control in response to changing postures, and that preoperative evaluation for appropriate posture for surgery is mandatory. 相似文献
73.
Hamano T Fujiyama J Kawamura Y Hirayama M Ito K Inagaki T Kumano T Mutoh T Kuriyama M 《Journal of the neurological sciences》2002,199(1-2):45-48
We report here the muscle MRI findings in two patients with human T-cell lymphotropic virus type I-associated myelopathy (HAM). It is known that thigh muscles are vulnerable in HAM patients, but detailed information about the affected muscles has not been available. Muscle MRI findings of these patients showed that thigh muscles, especially adductor magnus, and semimembranosus muscles were severely affected, but lower leg muscles were comparatively preserved. In these affected muscles, neurogenic changes were observed by EMG. We concluded that muscle MRI is very useful to estimate the affected muscles in HAM patients. 相似文献
74.
Sugiyama N Hamano S Tanaka M Mochizuki M Nara T 《No to hattatsu. Brain and development》2002,34(6):533-537
We reported the MRI findings and clinical course of two patients with ophthalmoplegic migraine. Both patients presented with unilateral oculomotor nerve palsy. Contrast enhanced MR imaging revealed unilateral enhancement and thickening of the oculomotor nerve in one patient. Prednisolone was effective in both patients, but only could transiently. On the other hand, cyproheptadine hydrochloride could completely prevent recurrent attacks of ophthalmoplegic migraine. Thus, MR imaging with of contrast enhancement is useful in the diagnosis of ophthalmoplegic migraine. Cyproheptadine hydrochloride is better than prednisolone to prevention recurrent attacks and to avoid adverse effects. 相似文献
75.
A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development 总被引:1,自引:0,他引:1
Natoli TA Liu J Eremina V Hodgens K Li C Hamano Y Mundel P Kalluri R Miner JH Quaggin SE Kreidberg JA 《Journal of the American Society of Nephrology : JASN》2002,13(8):2058-2067
The Wilms' tumor suppressor gene WT1 encodes a zinc finger protein that is required for urogenital development. In the kidney, WT1 is most highly expressed in glomerular epithelial cells or podocytes, which are an essential component of the filtering system. Human subjects heterozygous for point mutations in the WT1 gene develop renal failure because of the formation of scar tissue within glomeruli. The relationship between WT1 expression in podocytes during development and glomerular scarring is not well understood. In this study, transgenic mice that expressed a mutant form of WT1 in podocytes were derived. The capillaries within transgenic glomeruli were dilated, indicating that WT1 might regulate the expression of growth factors that affect capillary development. Platelet endothelial cell adhesion molecule-1 expression was greatly reduced on glomerular endothelial cells of transgenic kidneys. These results suggest that WT1 controls the expression of growth factors that regulate glomerular capillary development and that abnormal capillary development might lead to glomerular disease. 相似文献
76.
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78.
Hirata K Ikenaga S Ikeda Y Shirasawa B Itoh H Mikamo A Hamano K 《Kyobu geka. The Japanese journal of thoracic surgery》2005,58(6):481-485
We report 2 cases of cardiovascular disease related to end-stage syphilitic infection, which is now relatively rare. A 49-year-old man (case 1), and a 45-year-old man (case 2) were admitted to our hospital for angina pectoris. Cardiac catheterization showed severe aortic regurgitation and left coronary ostial stenosis. Active syphilis was detected in both cases by routine blood examination on admission. Oral ampicillin was started immediately to treat the syphilis; however, during the course of treatment, acute heart failure developed in both patients. We performed emergency aortic valve replacement and coronary artery bypass grafting. Intraoperatively, the orifice of the left coronary artery was almost occluded, and retrograde perfusion of cardioplegia was needed to induce cardiac arrest. Both patients recovered uneventfully. When treating patients with antibiotics for syphilitic disease, it is important to prepare for the possibility of urgent surgery. 相似文献
79.
Hanada S Shirasawa B Harada M Ohnishi H Tomozawa N Hamano K 《Kyobu geka. The Japanese journal of thoracic surgery》2005,58(6):487-490
We report a case with pericardial diverticulum in the mediastinum. A 64-year-old woman visited our hospital because of cough and dyspnea. Chest X-ray showed a smooth-bordered mass in the right superior mediastinum and computed tomography (CT) showed a homogeneous cystic mass in the paratracheal area. During right mini-thoracotomy, a thin-walled cystic lesion was found involving the trachea, the superior vena cava, and the azygos vein. The cyst extended a duct toward the pericardium. We performed total excision and pathological examination confirmed the diagnosis of a pericardial diverticulum. Mini-thoracotomy provides an effective and minimally invasive means of excising the mediastinal mass, relieving symptoms, and allowing pathological examination. 相似文献
80.
Biphasic anti-osteoclastic action of intravenous alendronate therapy in multiple myeloma bone disease 总被引:1,自引:0,他引:1
Kitano M Ogata A Sekiguchi M Hamano T Sano H 《Journal of bone and mineral metabolism》2005,23(1):48-52
Multiple myeloma is a malignancy of plasma cells with osteolytic bone destruction. Bisphosphonates inhibit osteoclast activity and are widely used for the treatment of myeloma bone disease. We analyzed the changes in urinary cross-linked N-telopeptides of collagen (u-NTx) and urinary calcium (u-Ca) after bisphosphonate alendronate therapy in ten patients with myeloma bone disease. In all patients, the levels of u-Ca and u-NTx decreased within a week. After the maximum decrease of u-NTx, u-NTx started increasing in half of the patients. However, this further increase in u-NTx decreased again without any additional therapy. Disease severity and pretreatment u-NTx concentrations did not differ between patients with and without the rebound. Patients who did not have rebound had decreased bone marrow monocytes and decreased serum concentrations of interleukin 18, which is produced by monocytes. Our results suggest that impaired activity of monocytes, which are possible osteoclast precursors, is related to reduced bone destruction in multiple myeloma. 相似文献