4,241 research outputs found
The Epidemiology of Stargardt Disease in the United Kingdom
The authors thank the British Ophthalmological Surveillance Unit (BOSU) for the support received, as well as Mr Barnaby Foot, research coordinator for BOSU, for his help and advice on this project. The authors thank the following ophthalmologists who assisted with data collection for this study: N. Acharya, S. Anwar, V. Bansal, P.N. Bishop, D. Byles, J.S. Chawla, A. Churchill, M. Clarke, B. Dhillon, M. Ekstein, S. George, J. Gillian, J.T. Gillow, D. Gilmour, R. Gray, P.T.S. Gregory, R. Gupta, S.P. Kelly, I.C. Lloyd, A. Lotery, M. McKibbin, R. MacLaren, G. Menon, A.T. Moore, A. Mulvihill, Y. Osoba, R. Pilling, H. Porooshani, A. Raghu Ram, T. Rimmer, I. Russell-Eggitt, M. Sarhan, R. Savides, S. Shafquat, A. Smith, A. Tekriwal, P. Tesha, P. Watts.Peer reviewedPublisher PD
Land use change in the river basins of the Great Barrier Reef, 1860 to 2019: a foundation for understanding environmental history across the catchment to reef continuum
Land use in the catchments draining to the Great Barrier Reef lagoon has changed considerably since the introduction of livestock grazing, various crops, mining and urban development. Together these changes have resulted in increased pollutant loads and impaired coastal water quality. This study compiled records to produce annual time-series since 1860 of human population, livestock numbers and agricultural areas at the scale of surface drainage river basins, natural resource management regions and the whole Great Barrier Reef catchment area. Cattle and several crops have experienced progressive expansion interspersed by declines associated with droughts and diseases. Land uses which have experienced all time maxima since the year 2000 include cattle numbers and the areas of sugar cane, bananas and cotton. A Burdekin Basin case study shows that sediment loads initially increased with the introduction of livestock and mining, remained elevated with agricultural development, and declined slightly with the Burdekin Falls Dam construction
Refining fine sediment source identification through integration of spatial modelling, concentration monitoring and source tracing: A case study in the Great Barrier Reef catchments
Excess fine sediment delivery is a major contributor to the declining health of the Great Barrier Reef and identifying the
dominant source areas of fine sediment has been critical to prioritising erosion remediation programs. The Bowen
River catchment within the Burdekin Basin has been recognised as a major contributor and hence received considerable
research investment over the last two decades. This study adopts a novel approach to integrate three independently
derived sediment budgets produced from a catchment scale sediment budget model (Dynamic SedNet),
targeted tributary water quality monitoring and geochemical sediment source tracing to refine and map the sediment
source zones within the Bowen catchment. A four year study of water quality monitoring combined with modelled discharge
estimates and geochemical source tracing both identified that the Little Bowen River and Rosella Creek were
the largest sources of sediment in the Bowen River catchment. Both data sets contradicted initial synoptic sediment
budget model predictions due to inadequate representation of hillslope and gully erosion. Recent improvements in
model inputs have resulted in predictions that are consistent with the field data and are of finer resolution within
the identified source areas. Priorities for further investigation of erosion processes are also revealed. Examining the
benefits and limitations of each method indicates that these are complimentary methods which can effectively be used as multiple lines of evidence. An integrated dataset such as this provides a higher level of certainty in the prediction
of fine sediment sources than a single line of evidence dataset or model. The use of high quality, integrated
datasets to inform catchment management prioritisation will provide greater confidence for decision makers when
investing in catchment management
Fine-suspended sediment and water budgets for a large, seasonally dry tropical catchment: Burdekin River catchment, Queensland, Australia
The Burdekin River catchment (~130,400 km2) is a seasonally dry tropical catchment located in north-east Queensland, Australia. It is the single largest source of suspended sediment to the Great Barrier Reef (GBR). Fine sediments are a threat to ecosystems on the GBR where they contribute to elevated turbidity (reduced light), sedimentation stress, and potential impacts from the associated nutrients. Suspended sediment data collected over a 5 year period were used to construct a catchment-wide sediment source and transport budget. The Bowen River tributary was identified as the major source of end-of-river suspended sediment export, yielding an average of 530 t km−2 yr−1 during the study period. Sediment trapping within a large reservoir (1.86 million ML) and the preferential transport of clays and fine silts downstream of the structure were also examined. The data reveal that the highest clay and fine silt loads—which are of most interest to environmental managers of the GBR—are not always sourced from areas that yield the largest total suspended sediment load (i.e., all size fractions). Our results demonstrate the importance of incorporating particle size into catchment sediment budget studies undertaken to inform management decisions to reduce downstream turbidity and sedimentation. Our data on sediment source, reservoir influence, and subcatchment and catchment yields will improve understandings of sediment dynamics in other tropical catchments, particularly those located in seasonally wet-dry tropical savannah/semiarid climates. The influence of climatic variability (e.g., drought/wetter periods) on annual sediment loads within large seasonally dry tropical catchments is also demonstrated by our data
Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency
Leber congenital amaurosis (LCA) is a severe retinal dystrophy manifesting from early infancy as poor vision or blindness. Loss-of-function mutations in GUCY2D cause LCA1 and are one of the most common causes of LCA, accounting for 20% of all cases. Human GUCY2D and mouse Gucy2e genes encode guanylate cyclase-1 (GC), which is responsible for restoring the dark state in photoreceptors after light exposure. The Glicy2e(-/-) mouse shows partially diminished rod function, but an absence of cone function before degeneration. Although the cones appear morphologically normal, they exhibit mislocalization of proteins involved in phototransduction. In this study we tested the efficacy of an rAAV2/8 vector containing the human rhodopsin kinase promoter and the human GUCY2D gene. Following subretinal delivery of the vector in Glicy2e(-/-) mice, GC1 protein was detected in the rod and cone outer segments, and in transduced areas of retina cone transducin was appropriately localized to cone outer segments. Moreover, we observed a dose-dependent restoration of rod and cone function and an improvement in visual behavior of the treated mice. Most importantly, cone preservation was observed in transduced areas up to 6 months post injection. To date, this is the most effective rescue of the Glicy2e(-/-) mouse model of LCA and we propose that a vector, similar to the one used in this study, could be suitable for use in a clinical trial of gene therapy for LCA1
Generalised deep learning model for semi-automated length measurement of fish in stereo-BRUVS
Assessing the health of fish populations relies on determining the length of fish in sample species subsets, in conjunction with other key ecosystem markers; thereby, inferring overall health of communities. Despite attempts to use artificial intelligence (AI) to measure fish, most measurement remains a manual process, often necessitating fish being removed from the water. Overcoming this limitation and potentially harmful intervention by measuring fish without disturbance in their natural habitat would greatly enhance and expedite the process. Stereo baited remote underwater video systems (stereo-BRUVS) are widely used as a non-invasive, stressless method for manually counting and measuring fish in aquaculture, fisheries and conservation management. However, the application of deep learning (DL) to stereo-BRUVS image processing is showing encouraging progress towards replacing the manual and labour-intensive task of precisely locating the heads and tails of fish with computer-vision-based algorithms. Here, we present a generalised, semi-automated method for measuring the length of fish using DL with near-human accuracy for numerous species of fish. Additionally, we combine the DL method with a highly precise stereo-BRUVS calibration method, which uses calibration cubes to ensure precision within a few millimetres in calculated lengths. In a human versus DL comparison of accuracy, we show that, although DL commonly slightly over-estimates or under-estimates length, with enough repeated measurements, the two values average and converge to the same length, demonstrated by a Pearson correlation coefficient (r) of 0.99 for n=3954 measurement in ‘out-of-sample’ test data. We demonstrate, through the inclusion of visual examples of stereo-BRUVS scenes, the accuracy of this approach. The head-to-tail measurement method presented here builds on, and advances, previously published object detection for stereo-BRUVS. Furthermore, by replacing the manual process of four careful mouse clicks on the screen to precisely locate the head and tail of a fish in two images, with two fast clicks anywhere on that fish in those two images, a significant reduction in image processing and analysis time is expected. By reducing analysis times, more images can be processed; thereby, increasing the amount of data available for environmental reporting and decision making
Differential Modulation of Retinal Degeneration by Ccl2 and Cx3cr1 Chemokine Signalling
Microglia and macrophages are recruited to sites of retinal degeneration where local cytokines and chemokines determine protective or neurotoxic microglia responses. Defining the role of Ccl2-Ccr2 and Cx3cl1-Cx3cr1 signalling for retinal pathology is of particular interest because of its potential role in age-related macular degeneration (AMD). Ccl2, Ccr2, and Cx3cr1 signalling defects impair macrophage trafficking, but have, in several conflicting studies, been reported to show different degrees of age-related retinal degeneration. Ccl2/Cx3cr1 double knockout (CCDKO) mice show an early onset retinal degeneration and have been suggested as a model for AMD. In order to understand phenotypic discrepancies in different chemokine knockout lines and to study how defects in Ccl2 and/or Cx3cr1 signalling contribute to the described early onset retinal degeneration, we defined primary and secondary pathological events in CCDKO mice. To control for genetic background variability, we compared the original phenotype with that of single Ccl2, Cx3cr1 and Ccl2/Cx3cr1 double knockout mice obtained from backcrosses of CCDKO with C57Bl/6 mice. We found that the primary pathological event in CCDKO mice develops in the inferior outer nuclear layer independently of light around postnatal day P14. RPE and vascular lesions develop secondarily with increasing penetrance with age and are clinically similar to retinal telangiectasia not to choroidal neovascularisation. Furthermore, we provide evidence that a third autosomal recessive gene causes the degeneration in CCDKO mice and in all affected re-derived lines and subsequently demonstrated co-segregation of the naturally occurring RD8 mutation in the Crb1 gene. By comparing CCDKO mice with re-derived CCl2−/−/Crb1Rd8/RD8, Cx3cr1−/−/Crb1Rd8/RD8 and CCl2−/−/Cx3cr1−/−/Crb1Rd8/RD8 mice, we observed a differential modulation of the retinal phenotype by genetic background and both chemokine signalling pathways. These findings indicate that CCDKO mice are not a model of AMD, but a model for an inherited retinal degeneration that is differentially modulated by Ccl2-Ccr2 and Cx3cl1-Cx3cr1 chemokine signalling
The ontogeny of color: developmental origins of divergent pigmentation in D rosophila americana and D . novamexicana
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/92117/1/ede550.pd
Bridging Alone: Religious Conservatism, Marital Homogamy, and Voluntary Association Membership
This study characterizes social insularity of religiously conservative American married couples by examining patterns of voluntary associationmembership. Constructing a dataset of 3938 marital dyads from the second wave of the National Survey of Families and Households, the author investigates whether conservative religious homogamy encourages membership in religious voluntary groups and discourages membership in secular voluntary groups. Results indicate that couples’ shared affiliation with conservative denominations, paired with beliefs in biblical authority and inerrancy, increases the likelihood of religious group membership for husbands and wives and reduces the likelihood of secular group membership for wives, but not for husbands. The social insularity of conservative religious groups appears to be reinforced by homogamy—particularly by wives who share faith with husbands
Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium–specific 65-kD protein (RPE65) is associated with poor vision at birth and complete loss of vision in early adulthood. We administered to three young adult patients subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human RPE65 promoter. There were no serious adverse events. There was no clinically significant change in visual acuity or in peripheral visual fields on Goldmann perimetry in any of the three patients. We detected no change in retinal responses on electroretinography. One patient had significant improvement in visual function on microperimetry and on dark-adapted perimetry. This patient also showed improvement in a subjective test of visual mobility. These findings provide support for further clinical studies of this experimental approach in other patients with mutant RPE65. (ClinicalTrials.gov number, NCT00643747.)Supported by grants from the U.K. Department of Health, the
British Retinitis Pigmentosa Society, and the Special Trustees of
Moorfields Eye Hospital, and by the Sir Jules Thorn Charitable
Trust, the Wellcome Trust, the European Union (EVI-Genoret
and Clinigene programs), the Medical Research Council, Foundation
Fighting Blindness, Fight for Sight, the Ulverscroft Foundation,
Fighting Blindness (Ireland), Moorfields Eye Hospital,
and Institute of Ophthalmology Biomedical Research Centre for
Ophthalmology, University College London
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