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41.
We describe five new cases of autosomal recessive distal dystrophy (Miyoshi myopathy) and emphasize the distinctive clinical and laboratory features of this unusual muscular dystrophy. Symptoms began at age 15 to 25, the gastrocnemius muscles were selectively involved, and creatine kinase was elevated more than 10 times normal. The EMG showed abundant brief motor units with numerous fibrillations. Dystrophic features without vacuoles were best seen in the biceps femoris muscle. Asymptomatic creatine kinase elevation was present years prior to the development of weakness. The disorder appears to be inherited in an autosomal recessive pattern. Miyoshi myopathy can be distinguished from other distal muscular dystrophies. We propose a new classification for the distal muscular dystrophies. 相似文献
42.
D. M. Reid I. Mackay S. Wilkinson C. Miller D. G. Schuette J. Compston C. Cooper E. Duncan N. Galwey R. Keen B. Langdahl A. McLellan H. Pols A. Uitterlinden J. O’Riordan J. A. H. Wass S. H. Ralston S. T. Bennett 《Osteoporosis international》2006,17(1):125-132
Osteoporosis is a common disease with a strong genetic component characterized by reduced bone mass and an increased risk of fragility fractures. Bone mineral density (BMD) is the most important determinant of osteoporotic fracture risk, but the genes responsible for BMD regulation and fracture are incompletely defined. To enable multi-center studies to examine the genetic influences on BMD there is a requirement to standardize measurements across different manufacturers of bone densitometers, different versions of machines and different normative ranges. This paper describes a method developed to allow near-identical subjects with low age-adjusted BMD (based on Z-scores) to be recruited in 17 centers using 27 different densitometers. Cross-calibration was based on measurements using a European spine phantom circulated to all centers and measured ten times on each individual machine. From theses values an individual exponential curve, based on nominal versus observed BMD, was derived for each machine. As expected, there were large and significant variations in nominal BMD values, not only between scanners from different manufacturers but also between different versions of scanners from the same manufacturer. Hologic scanners tended to underestimate the nominal BMD, while Lunar scanners overestimated the value. Norland scanners gave mixed values over estimating BMD at the lower nominal value (0.5 g/cm2) while underestimating the value at the higher value (1.5 g/cm2). The validity of the exponential equations was tested using hip and spine measurements on 991 non-proband women from a familial osteoporosis study (FAMOS). After cross-calibration there was a considerable reduction in variation between machines. This observation, coupled with the absence of a similar reduction in variation attributable to a linear regression on age, demonstrated the validity of the cross-calibration approach. Use of the cross-calibration curves along with a standard normative range (in the case of this study, the Hologic normative range) allowed age-specific Z-scores to be used as an inclusion criterion in this genetic study, a method that will be useful for other trials where age-specific BMD inclusion criteria are required. 相似文献
43.
44.
Brain and spinal cord hemorrhage in long-term survivors of malignant pediatric brain tumors: a possible late effect of therapy 总被引:1,自引:0,他引:1
Three children with malignant primary CNS tumors treated with craniospinal radiotherapy developed intraparenchymal hemorrhages a median of 5 years following therapy in sites distant from the primary tumor. Radical surgical procedures disclosed fresh and old hematoma, gliosis, and necrosis in all 3 patients and an aggregation of abnormal microscopic blood vessels in two. No tumor was found. All 3 patients remain in long-term (greater than 10 years) continuous remission. 相似文献
45.
46.
Lumbar spondylolysis and spondylolisthesis in college football players. A prospective study 总被引:5,自引:0,他引:5
A prospective study was done on Indiana University freshman football players to determine if the incidence of lumbar spondylolysis and spondylolisthesis followed the pattern of previous studies. Using x-ray film evaluation, 145 freshman players were followed through their careers from 1978 to 1983. As in previous studies, a higher percentage (15.2%) of the defect was found than exists in the general population. However, only 2.4% of these players developed the problem in college, a much lower figure than previously found. Affected team members played a variety of positions. In addition to spondylolysis, some other problems, such as spina bifida occulta, were found. Theories on the cause of spondylolysis and spondylolisthesis are reviewed, and preventive suggestions such as more careful training and weight lifting are presented. 相似文献
47.
48.
Elaine Tilka Miller 《Rehabilitation nursing》2006,31(4):134-135
49.
As the biological width is established around neighboring implants, there is a flattening of the interimplant bone and a change in the position of the soft tissue. As a result, a normal progression of papilla from natural teeth through the adjacent implant area is lost. This presentation describes various techniques and strategies to improve the aesthetic outcome of anterior implant restorations, together with the use of a scalloped implant designed to sustain the interdental bony peaks, and in doing so, maintain the interimplant papillae. 相似文献
50.
In vivo electrochemical methods were employed to study the potassium (K+-evoked release of monoamines from the cerebellum of the chloral hydrate anesthetized rat. K+-evoked releases were elicited using micropipette-Nafion-coated graphite epoxy electrode arrays in the granule/Purkenje cell layer, molecular layer, and white matter. These recorded releases were generally found to be reversible, moderately dose-dependent, and reproducible. However, the temporal dynamics of the releases were different for the cell layer versus molecular layer records. Releases were infrequently observed in cerebellar white matter, an area which is relatively devoid of monoamine containing terminals. The signals recorded from the cell and molecular layers were significantly attenuated by pretreatment with nomifensine, a potent catecholamine reuptake blocker, significantly prolonged the K+-evoked signals observed in both the granule/Purkenje cell and molecular layers. These data, taken together with earlier reports on the electrophysiological responses to activation of cerebellar noradrenergic inputs, support the conjecture that in vivo electrochemical recording methods have the sensitivity and spatial resolution for studies of functional monoamine release from brain regions that have a diffuse or laminated monoamine innervation. 相似文献