Retinal disease in the C3 glomerulopathies and the risk of impaired vision

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.     

Thin slices of teleost retina continue to grow in culture

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.     

The genetic and epigenetic basis of ependymoma

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.     

Dose Escalated External Beam Radiotherapy versus Neoadjuvant Androgen Deprivation Therapy and Conventional Dose External Beam Radiotherapy for Clinically Localized Prostate Cancer: Do we Need Both?

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...     

Assessment of functional ability in Alzheimer disease: a review and a preliminary report on the Cleveland Scale for Activities of Daily Living.

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.