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排序方式: 共有589条查询结果,搜索用时 15 毫秒
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Vujic M Bergman A Romanus B Wahlström J Martinsson T 《International journal of molecular medicine》2004,13(1):47-52
Hereditary multiple exostoses (HME) is a well known autosomal dominant hereditary orthopedic disorder. Isolated exostoses, on the other hand, occur as sporadic events or as secondary post-traumatic sequel. The occurrence of solitary exostoses in individuals from pedigrees affected with HME may distort conclusions about carrier status and/or diagnosis. Both conditions are potentially malignant and both are associated with genetic alterations in either EXT1 or EXT2 genes. In this study, we present a seven-generation family from western Sweden consisting of 170 blood relatives, 38 of whom had multiple cartilaginous exostoses, while 8 had isolated exostoses. Linkage analysis aimed to discern one of the known EXT genes demonstrated linkage of the HME phenotype to the EXT2 gene. Subsequent mutation analysis revealed a novel mutation, nt112delAT, in this gene. All carriers of the detected mutation had multiple exostoses, indicating full penetrance. None of the pedigree members with isolated exostoses were carriers of the detected mutation. Two of the mutation carriers developed chondrosarcoma yielding a 5.2% risk of malignant development for this mutation. The detection of this mutation has enabled us to provide appropriate genetic counseling concerning this complex situation. 相似文献
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Miroslav Marek Michael Roman Danica Dosko
ilov Svatopluk Pokorný 《Macromolecular chemistry and physics.》1986,187(10):2337-2344
The polymerization of 3-chloro-2-methyl-1-propene was investigated at temperatures between 0 and ?80°C, using AlCl3 and AlBr3 as initiators. The molecular weights of the resulting oily products depend on the polymerization temperature and varied in the range of the number-average molecular weight M?n = 400–620. The course of polymerization was studied and the characteristic groupings in the oligomeris were identified by means of 1H NMR and 13C NMR spectroscopy. Based on the results the mechanism of partial reactions was discussed to explain the new type of propagation in the cationic polymerization. 相似文献
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Dens fractures are frequently difficult to identify radiographically, particularly when it is only possible to obtain a lateral radiograph of the upper cervical spine. Further, when a dens fracture is identified in lateral projection, it is often difficult to distinguish the "high" (Type II) from the "low" (Type III) fracture. The authors describe an elongated "ring" density superimposed upon the body of the axis in the lateral cervical radiograph which, when horizontally disrupted, indicates a dens fracture and is a specific radiographic sign of the "low" variety. 相似文献
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Gerald M. Rittenberg M.D. Stephen I. Schabel M.D. Ivan Vujic M.D. Hubert C. Meredith M.D. 《Skeletal radiology》1978,2(4):243-244
The angiographic analogue of the sunburst, (right angle) periosteal new bone formation in osteogenic sarcoma is described. The angiographic findings in this tumor and their relationship to the pathologic appearance are discussed. 相似文献
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Benjamin D. Varco-Merth William Brantley Alejandra Marenco Derick D. Duell Devin N. Fachko Brian Richardson Kathleen Busman-Sahay Danica Shao Walter Flores Kathleen Engelman Yoshinori Fukazawa Scott W. Wong Rebecca L. Skalsky Jeremy Smedley Michael K. Axthelm Jeffrey D. Lifson Jacob D. Estes Paul T. Edlefsen Louis J. Picker Cheryl M.A. Cameron Timothy J. Henrich Afam A. Okoye 《The Journal of clinical investigation》2022,132(10)
Proliferation of latently infected CD4+ T cells with replication-competent proviruses is an important mechanism contributing to HIV persistence during antiretroviral therapy (ART). One approach to targeting this latent cell expansion is to inhibit mTOR, a regulatory kinase involved with cell growth, metabolism, and proliferation. Here, we determined the effects of chronic mTOR inhibition with rapamycin with or without T cell activation in SIV-infected rhesus macaques (RMs) on ART. Rapamycin perturbed the expression of multiple genes and signaling pathways important for cellular proliferation and substantially decreased the frequency of proliferating CD4+ memory T cells (TM cells) in blood and tissues. However, levels of cell-associated SIV DNA and SIV RNA were not markedly different between rapamycin-treated RMs and controls during ART. T cell activation with an anti-CD3LALA antibody induced increases in SIV RNA in plasma of RMs on rapamycin, consistent with SIV production. However, upon ART cessation, both rapamycin and CD3LALA–treated and control-treated RMs rebounded in less than 12 days, with no difference in the time to viral rebound or post-ART viral load set points. These results indicate that, while rapamycin can decrease the proliferation of CD4+ TM cells, chronic mTOR inhibition alone or in combination with T cell activation was not sufficient to disrupt the stability of the SIV reservoir. 相似文献
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Successful use of sirolimus for refractory atrial ectopic tachycardia in a child with cardiac rhabdomyoma
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Sanja Ninic MD Marija Kalaba MD Bosiljka Jovicic MD Vladislav Vukomanovic MD PhD Sergej Prijic MD PhD Biljana Vucetic MD Ruzica Kravljanac MD PhD Ana Vujic MD PhD Jovan Kosutic MD PhD 《Annals of noninvasive electrocardiology》2017,22(4)
Cardiac rhabdomyomas are common in tuberous sclerosis. We report a child who developed rhabdomyoma related arrhythmia refractory to antiarrhythmic drug therapy. Reversion of the atrial ectopic tachycardia was achieved with mammalian target of rapamycin pathway (mTOR) inhibitor sirolimus. As per our knowledge, this is the first time that sirolimus has been successfully used in this setting. 相似文献