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1.
J. Savige L. Amos Frank Ierino H. G. Mack R. C. Andrew Symons P. Hughes 《Ophthalmic genetics》2016,37(4):369-376
Background: Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations. This study describes the retinal abnormalities in dense deposit disease and, for the first time, atypical haemolytic uremic syndrome. It also reviews our understanding of drusen pathogenesis and their relevance for glomerular disease. Methods: Six individuals with dense deposit disease and one with atypical haemolytic uremic syndrome were studied from 2 to 40 years after presentation. Five had renal transplants. All four who had genetic testing had CFH mutations. Individuals underwent ophthalmological review and retinal photography, and in some cases, optical coherence tomography, and further tests of retinal function. Results: All subjects with dense deposit disease had impaired night vision and retinal drusen or whitish-yellow deposits. Retinal atrophy, pigmentation, and hemorrhage were common. In late disease, peripheral vision was restricted, central vision was distorted, and there were scotoma from sub-retinal choroidal neovascular membranes and atypical serous retinopathy. Drusen were present but less prominent in the young person with atypical uremic syndrome due to a heterozygous CFH mutation. Conclusions: Drusen are common in forms of C3 glomerulopathy caused by compound heterozygous or heterozygous CFH mutations. They are useful diagnostically but also impair vision. Drusen have an identical composition to glomerular deposits. They are also identical to the drusen of age-related macular degeneration, and may respond to the same treatments. Individuals with a C3 glomerulopathy should be assessed ophthalmologically at diagnosis, and monitored regularly for vision-threatening complications. 相似文献
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Expression of the neurofilament protein NF-H in L cells. 总被引:1,自引:0,他引:1
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Thin slices of teleost retina continue to grow in culture 总被引:2,自引:0,他引:2
Thin slices of differentiated fish retinas were maintained up to 5 days in culture conditions where they exhibited properties essentially identical to those found in retinas of intact animals. Retinal slices were prepared by embedding eyecups from young fish in agarose and sectioning them on a vibratome. Phenotypic integrity of specific cell types was maintained, as demonstrated by specific antibody staining patterns. Stem cells in the retinal margin and presumptive rod progenitor cells in the outer nuclear layer continued to proliferate in vitro, just as they do in vivo. Some of these cells differentiated in vitro as demonstrated by labelling both cell division and cell phenotype. After several days in culture, some regeneration-like responses were observed, such as growth of neurites and swelling of cell bodies in the ganglion cell layer. This retinal slice preparation appears to offer a unique opportunity for studying the interactions among developing retinal cells. 相似文献
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Introduction
Although ependymoma is the third most common pediatric brain tumor, we know little about the genetic/epigenetic basis of its initiation, maintenance, or progression. This is due in part to the heterogeneity of the disease, as well as the small sample size of the cohorts analyzed in most studies. 相似文献7.
Strahlentherapie und Onkologie - Several randomized trials have demonstrated that men with localized prostate cancer benefit from the use of short-term neoadjuvant androgen deprivation therapy... 相似文献
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M B Patterson J L Mack M M Neundorfer R J Martin K A Smyth P J Whitehouse 《Alzheimer disease and associated disorders》1992,6(3):145-163
Assessment of activities of daily living (ADL) in Alzheimer disease (AD) is critical in establishing the diagnosis, monitoring disease progression, evaluating the efficacy of treatment interventions, and determining the need for health and social services. The proper method to measure ADL depends on the purposes to which the scale is to be put. Existing ADL scales differ as to the type of behaviors assessed, the nature of the observations made, and the manner in which the observations are quantified. These scales were not specifically designed to evaluate changes in the nature and extent of the broad spectrum of functional difficulties seen in individuals with AD. We describe the Cleveland Scale for Activities of Daily Living (CSADL), an informant-based instrument designed to expand upon the capacity of existing physical and instrumental ADL scales by assessing both premorbid and current component acts (e.g., initiation versus implementation) of daily living functions. 相似文献
10.
Simon Vinitski Carlos Gonzalez Feroze Mohamed Tad Iwanaga Robert L. Knobler Kamil Khalili John Mack 《Magnetic resonance in medicine》1997,37(3):457-469
Our aim was to develop an accurate multispectral tissue segmentation method based on 3D feature maps. We utilized proton density (PD), T2-weighted fast spin-echo (FSE), and T1-weighted spin-echo images as inputs for segmentation. Phantom constructs, cadaver brains, an animal brain tumor model and both normal human brains and those from patients with either multiple sclerosis (MS) or primary brain tumors were analyzed with this technique. Initially, misregistration, RF inhomogeneity and image noise problems were addressed. Next, a qualified observer identified samples representing the tissues of interest. Finally, k-nearest neighbor algorithm (k-NN) was utilized to create a stack of color-coded segmented images. The inclusion of T1 based images, as a third input, produced significant improvement in the delineation of tissues. In MS, our 3D technique was found to be far superior to that based on any combination of 2D feature maps (P < 0.001). We identified at least two distinctly different classes of lesions within the same MS plaque, representing different stages of the disease process. Further, we obtained the regional distribution of MS lesion burden and followed its changes over time. Neuropsychological aberrations were the clinical counterpart of the structural changes detected in segmentation. We could also delineate the margins of benign brain tumors. In malignant tumors, up to four abnormal tissues were identified: 1) a solid tumor core, 2) a cystic component, 3) edema in the white matter, and 4) areas of necrosis and hemorrhage. Subsequent neurosurgical exploration confirmed the distribution of tissues as predicted by this analysis. 相似文献