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1.
Novel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope. 总被引:1,自引:0,他引:1
BACKGROUND: An association between Brugada syndrome and neurally mediated syncope has been described. Although mutations in SCN5A have been identified in Brugada syndrome, the genetic link between Brugada syndrome and neurally mediated syncope has not been determined. OBJECTIVES: The purpose of the study was to clinically and genetically characterize a man with recurrent syncope that originally was diagnosed as neurally mediated syncope at age 8 years but subsequently manifested as Brugada syndrome at age 17 years. METHODS: The proband underwent clinical examination, which included head-up tilt test, sodium channel provocation test, and electrophysiologic study. Genetic screening of SCN5A was performed for the proband and his family members. The biophysical properties of a mutant SCN5A channel in a heterologous expression system were studied using whole-cell, patch clamp technique. RESULTS: The proband showed positive head-up tilt test, coved-type ST elevation recorded from the third intercostal space, and positive pilsicainide provocation test. Ventricular fibrillation was inducible at programmed electrical stimulation, consistent with characteristics of both Brugada syndrome and neurally mediated syncope. A novel nonsense SCN5A mutation (Q55X) was identified in the proband, his mother, and his asymptomatic brother. The heterologously expressed mutant channel was nonfunctional. CONCLUSION: We genetically determined an SCN5A mutation in a patient showing the combined phenotype of neurally mediated syncope and Brugada syndrome. Neurally mediated syncope and Brugada syndrome may share, at least in part, a common pathophysiologic mechanism. 相似文献
2.
H Masuzaki M Iwanishi M Umemiya K Misaki S Sumitomo N Fujimura M Kato S Heki M Kanaoka R Yamamoto 《Nihon Kyōbu Shikkan Gakkai zasshi》1991,29(12):1644-1650
A 33-year-old man with a 6-month history of rhinitis and bronchial asthma was referred to our hospital with polyarthralgia, severe anemia, hypoxemia, mononeuropathy multiplex, and renal insufficiency with hematuria. Marked eosinophilia was observed in his sputum, peripheral blood, and bronchoalveolar lavage fluid (BALF). In addition, his sputum contained many hemosiderin-laden macrophages, indicative of pulmonary hemorrhage. His chest roentgenogram on admission showed diffuse ground grass appearance. High resolution computed tomography (HRCT) demonstrated diffuse high density areas throughout the lung fields and characteristic irregularity and enlargement of the peripheral pulmonary arteries. His general condition rapidly deteriorated, but dramatically improved with oral steroid administration, and his major symptoms disappeared within a few days. Examination of the biopsied lung tissue revealed unequivocal evidence of pulmonary angitis with marked eosinophilic infiltration and perivascular granulomas. Bone marrow biopsy showed hyperplasia of eosinophilic leukocytes in contrast to the low cellularity. Suppression of erythroid hemopoiesis was thought to be the primary cause for his rapidly progressive anemia. Serum anti-GBM antibody titer returned to within the normal range soon after the initiation of steroid therapy. 相似文献
3.
D C Lloyd A A Edwards E J Fitzsimons C D Evans R Railton P Jeffrey T G Williams A D White M Ikeya H Sumitomo 《Occupational and environmental medicine》1994,51(10):713-718
This paper describes the case of an industrial radiographer who was seriously overexposed to gamma radiation. The exact circumstances of this exposure were not established but it was concluded that he was repeatedly irradiated probably to a total average whole body dose of at least 10 Gy over several years. Also, a much larger dose to a hand required its partial amputation. He developed myelodysplasia, which progressed to acute myeloid leukaemia from which he died. Karyotypic examination of the leukaemic blasts showed changes very similar to those associated with secondary leukaemia that may develop after radio or chemotherapy. The paper describes his medical case history, the investigation of his workplace, and the attempts to estimate his radiation dose by chromosomal analysis of blood lymphocytes and electron spin resonance of dental enamel and bone. 相似文献
4.
An immunohistochemical study of bone morphogenetic protein in pleomorphic adenoma of the salivary gland 总被引:4,自引:0,他引:4
Yang Lianjia Jin Yan Nakamine Hitoshi Sumitomo Shinichiro Kamegai Akihide Mori Masahiko 《Virchows Archiv : an international journal of pathology》1993,422(6):439-443
Bone morphogenetic protein (BMP) is a potent induction factor for new bone formation including heterotopic chondro-ossification in soft tissues. The immunohistochemical reaction for BMP was studied in 23 cases of pleomorphic adenoma of salivary gland by using a monoclonal antibody produced by hybridoma technique. Positive BMP immunoreactivity was seen in 87% of tumours. Immunohistochemical expression of BMP was observed in modified myoepithelial cells (88% cases), luminal tumour cells of tubulo-ductal structures (78% cases) and chondroid cells in hyaline tissue (22% cases). The authors concluded that the simultaneous presence of glycosaminoglycans as matrix substance and S-100 protein for calcium signalling are associated with BMP-mediated cellular activity of modified myoepithelial cells in the formation of chondroid structures in pleomorphic adenomas of the salivary glands. 相似文献
5.
Yasuaki Yokoyama Masahiko Okada Hiroshi Sumitomo 《Macromolecular chemistry and physics.》1978,179(5):1393-1396
6.
7.
Yasuaki Yokoyama Masahiko Okada Hiroshi Sumitomo 《Macromolecular chemistry and physics.》1975,176(10):2815-2832
The cationic copolymerization of 1,3-dioxolane ( 1 ) with 5-methyl-2,3-dihydro-2-furanone ( 2 ) which has two functional groups, a carbon-carbon double bond and a lactone ring, was carried out with three triethyloxonium salts (Et3O+Y?, Y?: BF, FeCl and SbCl), with the boron trifluoride ethyl ether complex, and with tin tetrachloride in nitrobenzene, dichloromethane, and toluene at 0°C. On the basis of the NMR analysis of the microstructure of the copolymer, it was revealed that the growing species of 1 attacked exclusively the carbon-carbon double bond of 2 in the cross-propagation from 1 to 2 , regardless of the solvents and initiators used, except when triethyloxonium hexachloroantimonate was used as initiator. With the latter initiator, the ring opening reaction of 2 by the attack of the growing species of 1 occurred competitively with the usual vinyl addition, although the latter mode of reaction was predominant. The ring opening reaction of 2 with this initiator is probably caused by some specific interaction of monomer 2 with the counter anion. 相似文献
8.
Yasuaki Yokoyama Masahiko Okada Hiroshi Sumitomo 《Macromolecular chemistry and physics.》1975,176(12):3537-3550
The copolymerization of 1,3-dioxolane ( 1 ) with 5-methyl-2,3-dihydro-2-furanone ( 2 ) was carried out in dichloromethane and nitrobenzene by use of triethyloxonium hexachloroantimonate, triethyloxonium hexafluoroantimonate, antimony pentachloride, antimony trichloride, and tin tetrachloride as initiators. The microstructures of the copolymers were analysed by means of 1H-NMR, showing that monomer 2 was incorporated into the copolymer chain by the ring-opening reaction as well as by the ?normal”? vinyl addition, when triethyloxonium hexachloroantimonate, triethyloxonium hexafluoroantimonate, and antimony pentachloride were used. On the basis of NMR and IR studies on the complexation of Lewis acids with γ-lactones, it was concluded that the prominent effect of the initiators observed in the copolymerization of 1 with 2 was mainly attributable to the coordination between the initiator and the γ-lactone ring of monomer 2 . 相似文献
9.