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61.
We report a family with inner ear lateral semicircular canal (LSC) malformation and external and middle ear abnormalities. The family had no history of known syndromes or toxic exposures. Distinct phenotypic manifestations were found in three family members. A young girl exhibited bilateral LSC malformation with a right-sided preauricular tag, a mildly deformed auricle, a stenotic external auditory canal, and a constricted middle ear cavity. She had moderate conductive hearing loss in the right ear but normal hearing in the left ear. Her younger brother exhibited right-sided LSC malformation, microtia, external auditory canal atresia, a malformed middle ear cavity, and abnormal auditory ossicles. He had severe mixed hearing loss in his right ear. Their mother exhibited left-sided LSC malformation without external and middle ear abnormalities, and the hearing was normal in her left ear. None of the three cases had vestibular symptoms, and their results of balance tests were appropriate for the corresponding ages. In contrast, significantly decreased LSC function was revealed by caloric tests in an ear with LSC malformation. Previously, LSC malformation may have been underdiagnosed in patients presenting with external and middle ear abnormalities and their relatives, since this malformation is frequently associated with normal hearing and balance or conductive hearing loss only. To our knowledge, this condition has not been described previously. This condition supports a genetic basis for the combination of LSC malformation and external and middle ear abnormalities and may represent an autosomal dominant condition with variable expressivity. 相似文献
62.
Takada D Emi M Ezura Y Nobe Y Kawamura K Iino Y Katayama Y Xin Y Wu LL Larringa-Shum S Stephenson SH Hunt SC Hopkins PN 《Journal of human genetics》2002,47(12):0656-0664
63.
An Epstein-Barr virus-producer line Akata: Establishment of the cell line and analysis of viral DNA 总被引:10,自引:0,他引:10
Kenzo Takada Kenichi Horinouchi Yasushi Ono Takao Aya Toyoro Osato Motoo Takahashi Shinichi Hayasaka 《Virus genes》1991,5(2):147-156
An Epstein-Barr virus (EBV)-producer line, designated Akata, was established from a Japanese patient with Burkitt's lymphoma. The Akata line possessed the Burkitt's-type chromosome translocation, t(8q-; 14q+), and was derived from the tumor cell. Akata cells produced a large quantity of transforming virus upon treatment of cells with anti-immunoglobulin antibodies (Takada, 1984). Southern blot analysis of viral DNA indicated that the Akata EBV is nondefective and more representative of wild-type viruses. Akata cells should be useful as a source of EBV. 相似文献
64.
65.
Thalamic projections to the putamen (Put) in the cat were studied by the retrograde horseradish peroxidase method. Major thalamic projections to the Put originate from the midline and intralaminar nuclear regions including the centre médian-parafascicular complex (CM-Pf). The other thalamic projections to the Put arise mainly from the suprageniculate nucleus (Sg), magnocellular division of the medial geniculate nucleus (MGm), caudomedial part of the lateroposterior nucleus (LP) and ventrolateral part of the ventromedial nucleus (VM). The VM projects to the rostral Put, while the posterior thalamic regions (Sg, MGm, LP) project to the caudal Put. 相似文献
66.
67.
Polymorphisms and the differential antiviral activity of the chicken Mx gene 总被引:29,自引:0,他引:29
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Ko JH Jin HK Asano A Takada A Ninomiya A Kida H Hokiyama H Ohara M Tsuzuki M Nishibori M Mizutani M Watanabe T 《Genome research》2002,12(4):595-601
The nucleotide sequence of chicken Mx cDNA was reported earlier using the White Leghorn breed in Germany, but it showed no enhanced resistance to viruses. In this study, the nucleotide sequences of chicken Mx cDNA were determined in many breeds. A total of 25 nucleotide substitutions, of which 14 were deduced to cause amino acid exchanges, were detected, suggesting that the chicken Mx gene is very polymorphic. Transfected cell clones expressing chicken Mx mRNA were established after the Mx cDNA was constructed with an expression vector and introduced into mouse 3T3 cells, and the Mx genes from some breeds were demonstrated to confer positive antiviral responses to influenza virus and vesicular stomatitis virus. On the basis of the comparison among the antiviral activities associated with many Mx variations, a specific amino acid substitution at position 631 (Ser to Asn) was considered to determine the antivirally positive or negative Mx gene. Thus, a single amino acid substitution influences the antiviral activity of Mx in domesticated chickens. 相似文献
68.
Pure titanium and titanium alloys are potential materials for the fabrication of cast dental appliances. One important factor in producing sound castings is the capacity of the metal to fill the mold. This study used a wedge-shaped mold to compare the mold filling of titanium with that of conventional dental casting alloys. The metals used were CP Ti, Ti-6Al-7Nb, Ti-6Al-4V, Ti with 1 and 4wt% Cu and ADA Type III gold alloy and an Ni-Cr alloy. The castings were cut into four pieces parallel to the triangular surface. Mold filling was evaluated as the distance between the tip of the cast wedge and theoretical tip of the triangle. The mold filling of the gold alloy was superior compared to all the metals tested, while the mold filling of the Ni-Cr alloy was the worst. There were no statistical differences at the 30 degrees marginal angle for all the cast titanium metals. At the sharper 15 degrees angle, CP Ti and Ti-6Al-7Nb was superior to both the Ti-Cu alloys. Although the mold filling of titanium was inferior compared to the gold alloy, the data justify the use of titanium for the production of dental appliances. 相似文献
69.
Polymorphism in RANTES chemokine promoter affects extent of sarcoidosis in a Japanese population 总被引:3,自引:0,他引:3
Takada T Suzuki E Ishida T Moriyama H Ooi H Hasegawa T Tsukuda H Gejyo F 《Tissue antigens》2001,58(5):293-298
RANTES, a member of C-C chemokine, is known to be produced at sites of granulomatous reactions in the lung of sarcoidosis. RANTES is a potent eosinophil and lymphocyte attractant with particular preference for CD45RO+ T cells and eosinophils. Polymorphism of the RANTES promoter has recently been shown to be related to allergic and infectious diseases; atopic dermatitis, asthma, and polymyalgia rheumatica. Considering that this might affect sarcoidosis, we studied polymorphism of the RANTES gene in 114 patients with sarcoidosis and 136 healthy control subjects. Their genotypes were determined using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Although no difference in the genotype distribution between healthy control subjects and sarcoidosis patients was identified, the difference in the frequencies of the patients with three or more organ involvement was significant (P<0.01) with the frequency of those in AA genotype being elevated (P<0.05). BAL findings in 48 out of 114 patients who underwent bronchoscopy were reviewed. The CD4/8 ratio of lymphocytes in bronchoalveolar lavage fluid in the patients with AA genotype was significantly increased (P<0.05). From the results, we suggest that in RANTES gene polymorphism the homozygous A allele might be a genetic risk factor for extent disease of sarcoidosis. 相似文献
70.
MML(Medical Markup Language)是一套不同医疗设施间的数据交换规格。于1995年在日本被开发。MML从版本2.21开始使用XML(eXtensible Markup Language)作为标记语言。而最新版本3.0又遵循HL7Clincal Document Architecture(CDA),包含14模块和36个数据定义表格。目前在中国,还没有一个使用XML来结构整个病历内容的规格。鉴于MML的柔韧性,我们制作了一个基于3.0版本的汉化版。日本与中国虽然诊疗流程、病历记录的内容等都很相似,但是也有一些,比如民族的表现、中医诊断分类,医师资格分类等都是日本不存在的或者分类不同的信息。另外,因为国情不同,医疗保险制度也完全不同。为了使MML能在中国的医院适用,我们追加和更改了12个数据定义表格,并重新制作了医疗保险信息模块。MML汉化版不止是一个对原规格的翻译和说明,它还考虑了本地的需要。因此,使用MML汉化版在中国的医疗设施间进行医疗数据交换已经成为可能。 相似文献