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排序方式: 共有102条查询结果,搜索用时 15 毫秒
1.
James I. Geller MD Joseph G. Pressey MD Malcolm A. Smith MD Rachel A. Kudgus PhD Mariana Cajaiba MD Joel M. Reid PhD David Hall PhD Donald A. Barkauskas PhD Stephen D. Voss MD Steve Y. Cho MD Stacey L. Berg MD Jeffrey S. Dome MD PhD Elizabeth Fox MD Brenda J. Weigel MD 《Cancer》2020,126(24):5303-5310
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Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease. 相似文献
3.
Nicole Seiberlich Felix A Breuer Martin Blaimer Kestutis Barkauskas Peter M Jakob Mark A Griswold 《Magnetic resonance in medicine》2007,58(6):1257-1265
A novel approach that uses the concepts of parallel imaging to grid data sampled along a non-Cartesian trajectory using GRAPPA operator gridding (GROG) is described. GROG shifts any acquired data point to its nearest Cartesian location, thereby converting non-Cartesian to Cartesian data. Unlike other parallel imaging methods, GROG synthesizes the net weight for a shift in any direction from a single basis set of weights along the logical k-space directions. Given the vastly reduced size of the basis set, GROG calibration and reconstruction requires fewer operations and less calibration data than other parallel imaging methods for gridding. Instead of calculating and applying a density compensation function (DCF), GROG requires only local averaging, as the reconstructed points fall upon the Cartesian grid. Simulations are performed to demonstrate that the root mean square error (RMSE) values of images gridded with GROG are similar to those for images gridded using the gold-standard convolution gridding. Finally, GROG is compared to the convolution gridding technique using data sampled along radial, spiral, rosette, and BLADE (a.k.a. periodically rotated overlapping parallel lines with enhanced reconstruction [PROPELLER]) trajectories. 相似文献
4.
SB Grover N Midha M Gupta U Sharma VH Talib 《Journal of Medical Imaging and Radiation Oncology》2005,49(2):175-178
The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal. 相似文献
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Sorin V. Fedeles Jae-Seon So Amol Shrikhande Seung Hun Lee Anna-Rachel Gallagher Christina E. Barkauskas Stefan Somlo Ann-Hwee Lee 《The Journal of clinical investigation》2015,125(5):1955-1967
The HSP40 cochaperone SEC63 is associated with the SEC61 translocon complex in the ER. Mutations in the gene encoding SEC63 cause polycystic liver disease in humans; however, it is not clear how altered SEC63 influences disease manifestations. In mice, loss of SEC63 induces cyst formation both in liver and kidney as the result of reduced polycystin-1 (PC1). Here we report that inactivation of SEC63 induces an unfolded protein response (UPR) pathway that is protective against cyst formation. Specifically, using murine genetic models, we determined that SEC63 deficiency selectively activates the IRE1α-XBP1 branch of UPR and that SEC63 exists in a complex with PC1. Concomitant inactivation of both SEC63 and XBP1 exacerbated the polycystic kidney phenotype in mice by markedly suppressing cleavage at the G protein–coupled receptor proteolysis site (GPS) in PC1. Enforced expression of spliced XBP1 (XBP1s) enhanced GPS cleavage of PC1 in SEC63-deficient cells, and XBP1 overexpression in vivo ameliorated cystic disease in a murine model with reduced PC1 function that is unrelated to SEC63 inactivation. Collectively, the findings show that SEC63 function regulates IRE1α/XBP1 activation, SEC63 and XBP1 are required for GPS cleavage and maturation of PC1, and activation of XBP1 can protect against polycystic disease in the setting of impaired biogenesis of PC1. 相似文献
7.
Pohl JM Sebastian JG Barkauskas VH Breer ML Williams CA Stanhope M Nagelkerk J Rayens MK 《Nursing outlook》2007,55(6):289-295
Academic nurse-managed centers (ANMCs) can be important sites for addressing the tripartite mission of the academy. Yet, limited information about numbers of ANMCs and the schools sponsoring them is available. This paper presents an update on schools of nursing (SONs) operating ANMCs. A survey was sent to 683 deans and directors of baccalaureate and higher-degree SONs, with 565 responding (response rate: 83%). Ninety-two SONs indicated they had one or more ANMCs. The largest percentage of the SONs with ANMCs were classified as doctoral/research-intensive or extensive universities, a proportion much higher than the national percent of SONs in this category. Schools of Nursing were financially supporting centers at a lower percentage of actual costs than was reported in earlier studies, although grants continue to be a major source of funding. Academic nurse-managed centers are likely to be supported by SONs with substantial research, practice, faculty, and student resources. Overall, the national number of ANMCs seems stationary over the past two decades. 相似文献
8.
The purpose of our research is to identify a realistic subset of North American Nursing Diagnosis Association (NANDA), Nursing Outcome Classification (NOC), and Nursing Interventions Classification (NIC) terms specific to the home care (HC) setting. A subset of 89 NOC outcomes were identified for study in HC through a baseline survey. Three research assistants then observed the care of 258 patients to whom the 89 NOC outcomes applied and recorded the associated NANDA and NIC terms. Follow-up surveys and focus groups were conducted with the nurses and research assistants. There were 81 different NANDA and 226 NIC labels used to describe study patients' care. Only 36 of the 89 NOC labels studied were deemed clinically useful for HC. We found that expert opinion about terminology usage before actual experience under practice conditions is unreliable. 相似文献
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