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排序方式: 共有384条查询结果,搜索用时 15 毫秒
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Stefan J. Cano Anna Mayhew Allan M. Glanzman Kristin J. Krosschell Kathryn J. Swoboda Marion Main Birgit F. Steffensen Carole Brard Franoise Girardot Christine A.M. Payan Eugenio Mercuri Elena Mazzone Bakri Elsheikh Julaine Florence Linda S. Hynan Susan T. Iannaccone Leslie L. Nelson Shree Pandya Michael Rose Charles Scott Reza Sadjadi Mackensie A. Yore Cynthia Joyce John T. Kissel 《Muscle & nerve》2014,49(3):422-430
Introduction: Trial design for SMA depends on meaningful rating scales to assess outcomes. In this study Rasch methodology was applied to 9 motor scales in spinal muscular atrophy (SMA). Methods: Data from all 3 SMA types were provided by research groups for 9 commonly used scales. Rasch methodology assessed the ordering of response option thresholds, tests of fit, spread of item locations, residual correlations, and person separation index. Results: Each scale had good reliability. However, several issues impacting scale validity were identified, including the extent that items defined clinically meaningful constructs and how well each scale measured performance across the SMA spectrum. Conclusions: The sensitivity and potential utility of each SMA scale as outcome measures for trials could be improved by establishing clear definitions of what is measured, reconsidering items that misfit and items whose response categories have reversed thresholds, and adding new items at the extremes of scale ranges. Muscle Nerve 49 :422–430, 2014 相似文献
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Ulla Werlauff A. Højberg R. Firla-Holme B. F. Steffensen J. Vissing 《Quality of life research》2014,23(5):1479-1488
Purpose
The aim of this study was to evaluate whether the fatigue severity scale (FSS) is an appropriate instrument to assess fatigue in patients with spinal muscular atrophy type II (SMA II) and congenital myopathies (CM).Methods
FSS and visual analog scale (VAS) were administered to 33 SMA II- and 72 CM patients. The psychometric properties of the FSS were evaluated by means of classical test theories for each of the disease groups. If abnormal fatigue was present in the disease group, the construct of fatigue was evaluated by means of focus group interviews.Results
Fatigue was rare in SMA II patients, but very frequent in patients with CM. The cut-off score designating abnormal fatigue (FSS score ≥ 4) was exceeded by 10 % of the SMA II patients in contrast to 76 % of the CM patients, of whom 52 % suffered from severe fatigue (FSS score ≥ 5). Focus group interviews demonstrated that fatigue had an adverse effect on motor function, level of energy, social relations, and identity, four themes that could be captured by the FSS. The FSS and VAS were strongly correlated in SMA II patients, but only moderately in CM patients. The psychometric properties indicated that the original FSS with nine items measures more than one construct of fatigue, eliminating the first two items improved scale properties.Conclusion
This study demonstrates that fatigue is characteristic in patients with CM, but not in patients with SMA II, in whom fatigue does not seem to impact daily life. While fatigue in CM and SMA II can be captured by FSS, omitting the first two items of the scale will improve its properties and content validity, along with comprehension of the scale itself. 相似文献16.
Trine R. Larsen Oke Gerke Axel C. P. Diederichsen Jess Lambrechtsen Flemming Hald Steffensen Niels Peter Sand 《Scandinavian journal of clinical and laboratory investigation》2017,77(8):574-581
Cystatin C (CysC) is known to be related to cardiovascular disease (CVD), including the presence and severity of coronary artery disease (CAD) and future clinical events. In this study, the association between CysC levels and (1) coronary artery calcification (CAC) in asymptomatic individuals from the general population as well as (2) different subgroups of patients with suspected or definite acute myocardial infarction (MI) was investigated. CysC levels were measured in serum from asymptomatic individuals as part of a screening study for CAC using non-contrast cardiac CT scan (N?=?1039) as well as in subgroups of hospitalized patients with a suspected MI (N?=?769). CysC was not associated with CAC in asymptomatic individuals after adjusting for relevant risk factors. No difference in CysC levels was observed between patients with type 1?MI (1.07?mg/L) and patients with normal troponin (with or without prior CAD: 1.14 and 1.01?mg/L, respectively). However, patients with type 2?MI and patient subgroups with elevated troponin but without MI had significantly higher CysC levels (1.24, 1.23 and 1.31?mg/L), even after adjusting for other risk factors. CysC was not associated with CAC in middle-aged asymptomatic individuals from the general population. Furthermore, CysC levels were found to be significantly lower in patients with type 1?MI compared to patients with type 2?MI and patients with elevated troponins but without MI. Thus, in two independent and clinically different populations, no association between CysC and coronary atherosclerotic manifestations could be demonstrated. 相似文献
17.
Liver X receptors downregulate 11beta-hydroxysteroid dehydrogenase type 1 expression and activity 总被引:13,自引:0,他引:13
11Beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD-1) converts inactive corticosteroids into biologically active corticosteroids, thereby regulating the local concentration of active glucocorticoids, such as cortisol. 11beta-HSD-1 is particularly expressed in adipocytes and liver and appears to be causally linked to the development of type 2 diabetes and the metabolic syndrome. Liver X receptor (LXR)-alpha and -beta are nuclear oxysterol receptors whose key role in lipid metabolic regulation has recently been established. In this study, we show that treatment of adipocytes derived from 3T3-L1 cells and mouse embryonic fibroblasts in vitro with synthetic or natural LXR agonists decreases mRNA expression of 11beta-HSD-1 by approximately 50%, paralleled by a significant decline in 11beta-HSD-1 enzyme activity. Downregulation of 11beta-HSD-1 mRNA by LXRs started after a lag period of 8 h and required ongoing protein synthesis. Moreover, long-term per os treatment with a synthetic LXR agonist downregulated 11beta-HSD-1 mRNA levels by approximately 50% in brown adipose tissue and liver of wild-type but not of LXRalpha(-/-)beta(-/-) mice and was paralleled by downregulation of hepatic PEPCK expression. In conclusion, LXR ligands could mediate beneficial metabolic effects in insulin resistance syndromes including type 2 diabetes by interfering with peripheral glucocorticoid activation. 相似文献
18.
Karina Dahl Steffensen Marianne Waldstr?m Dorte Aalund Olsen Thomas Corydon Karen Axelgaard Lorentzen Hans J?rgen Knudsen Ulla Jeppesen Ivan Brandslund Anders Jakobsen 《Clinical cancer research》2008,14(11):3278-3282
PURPOSE: Dysfunction of the epidermal growth factor (EGF) complex is essential to the growth and development of many human tumors. Overexpression of the EGF receptor (EGFR) is a characteristic finding in a considerable number of solid tumors and often signalizes poor prognosis. There is a major disagreement among researchers about both the frequency and possible clinical importance of EGFR overexpression in ovarian cancer. The type III variant of EGFR (EGFRvIII) is a mutant with a deletion. Contrary to the wild-type, it is constitutively active. EGFRvIII has not been found in normal tissue, and consequently, it is an attractive tumor-specific candidate for molecular targeted treatment. The literature dealing with this mutation in ovarian cancer has been very sparse. EXPERIMENTAL DESIGN: Tissue from 225 patients who underwent surgery for a pelvic mass was collected consecutively. The samples included 99 ovarian/peritoneal/tuba cancers, 17 ovarian borderline tumors, 66 benign ovarian tumors, 15 other cancer types, 24 normal ovarian biopsies, and 4 miscellaneous. The presence of EGFRvIII was investigated both by PCR analyses for EGFRvIII gene expression and with protein analysis by Western blots. RESULTS: None of the tissue samples was positive for the EGFRvIII mutation neither at the mRNA level nor at the protein level. CONCLUSIONS: The EGFRvIII mutation seems to be very rare in ovarian tissue. Our data indicate that EGFRvIII is not a part of the malignant phenotype in ovarian cancer and should not be pursued as a therapeutic target for treatment of this disease. 相似文献
19.
Scanning electron microscopy of aberrant crypt foci in rat colon 总被引:2,自引:0,他引:2
Paulsen Jan Erik; Steffensen Inger-Lise; Namork Ellen; Alexander Jan 《Carcinogenesis》1994,15(10):2371-2373
The surface of the colon mucosa of 1,2-dimethylhydrazinetreatedF344 rats was examined with the scanning electron microscope.A detailed examination of the mucosal topography revealed fociwith one to several aberrant crypts. These were seen as structureselevated from the background mucosa. The shape of the luminalopenings of the aberrant crypts varied from elongated or tortuousto circular. However, we found no ultrastructural variationsbetween the different aberrant crypt foci (ACF) or between theACF and the background mucosa. There was no direct relationshipbetween the size of ACF and the number of aberrant crypts perfocus, which may be explained by the mechanism of crypt fission;in two aberrant crypts we discovered the formation of a transverseepithelial septum, dividing the large crypt into two smallercrypts. The gross morphology of the ACF observed by scanningelectron microscopy and light microscopy was in principle thesame. 相似文献
20.