425 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
Isolation and characterisation of Heterorhabditis spp. (Nematoda: Heterorhabditidae) from Hungary, Estonia and Denmark
Targeted surveys were conducted for the entomopathogenic nematode Heterorhabditis in areas of Denmark, Estonia and Hungary. Isolateswere identiŽ ed by IEF, PCR and cross-fertilitytests as belonging to three distinct taxonomic groups: H. bacteriophora, the north-west European (NWE) type of H. megidis and the Irish type of Heterorhabditis. The Irish and NWE types of Heterorhabditis were both present in Denmark (at six and four sites, respectively),while only the NWE type was recovered in Estonia. H. bacteriophora was the dominant heterorhabditididentiŽ ed in Hungary (ten sites), but the Irish typewas also detected at two sites. This is the Ž rst report of the Irish type of Heterorhabditis on continental Europe. Co-occurrence of two Heterorhabditis types at a single site was noted in Denmark (Irish and NWE) and in Hungary (Irish and H. bacteriophora). Heterorhabditiswas recovered at 38.5% of sites (n = 26) in Denmark (north coast of Sjælland), 27.3% of the coastal sites (n = 22) in Estonia, and 32.6% of sites (n = 46) in Hungary
Collaborative Action Research for Middle Grades Improvement
Technology’s rapid evolution applies constant pressure to educational organizations, suggesting a need to continually re-envision schools for the digital age. Yet educators often struggle to understand the growing chasm between students’ out-of-school and in-school technology lives. This gap is particularly noticeable during the middle grades years, when home technology use increases dramatically. The purpose of this research was to examine the experiences of teachers and students engaged in collaborative action research for middle school improvement in technology-rich settings. We begin by outlining our theoretical framework, emphasizing Fletcher’s Ladder of Student Involvement. We then describe our case-study design and methods. Findings are organized by action research components and a discussion of key themes follows. Finally, we consider the implications of this stud
A prospective audit comparing Optos Widefield imaging to fundus examination for von Hippel-Lindau retinal screening
Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant multisystem disorder caused by germline mutations at chromosome 3p25-26 in the VHLtumour suppressor gene. Retinal manifestations include capillary haemangiomas that develop in up to 80% of gene carriers. Lifelong retinal surveillance involves yearly assessment usually by fundoscopy and often as part of a VHL multidisciplinary clinic. Optos ultra-widefield retinal imaging is now becoming more widely used in virtual retinal screening clinics. We aimed to assess discrepancies in the pickup rate of angioma and angiomatous-associated disease between slit-lamp fundoscopy and Optos ultra-widefield imaging.
Methodology: A total of 49 patients had both Optos ultra-widefield retinal imaging and slit-lamp fundoscopy over 16 months in VHL retinal surveillance clinics at the John Radcliffe Hospital, Oxford, UK. Optos images were analysed for image quality and presence of angioma(s) by a Consultant Ophthalmologist who was masked to the fundoscopy findings. The pickup rate was compared between slit-lamp fundoscopy and Optos imaging.
Results: In total, data on 94 eyes were collected. Of the total Optos retinal images, 12.8% were positive for angiomas compared to 11.7% from the slit-lamp examination. There was a discrepancy of 1.1% (one value) where the Optos image analysis suggested a possible angioma, which was not identified on slit-lamp examination. Optos imaging identified all angiomas in this cohort.
Conclusions: Optos imaging was non-inferior to slit-lamp examination in this sample of 94 eyes. In the current COVID-19 climate, reducing clinician-patient interaction is important. This research supports providing retinal imaging as an acceptable alternative to the yearly slit-lamp fundus examination
Combined central serous chorioretinopathy, hypermetropia, short axial length, chorioretinal folds, enlarged/thickened ocular coats, with varying association of scleral changes (CHAFES)
Purpose: To describe a condition with the following features: chronic central serous chorioretinopathy (CCSC), chorioretinal folds, scleral changes (including any of the following flattened or ‘squared off’ posterior pole, ‘T sign’, or thickened ocular coats), accompanied by a short axial length and hypermetropia in a series of 7 patients.
Methods: The case notes of 7 patients presenting with a combination of CSC, choroidal folds scleral changes and hypermetropia were reviewed as part of a retrospective case series. Corrected visual acuities, serial refraction, colour imaging, fluorescein and indocyanine green angiography findings, together with B-ultrasound scan features were recorded, with axial length measurements as available (
Results: The study included 14 eyes of 7 subjects (2 females and 5 males) with a primary presentation of central vision disturbance. All patients showed signs of previous or current episodes of the following features in at least one eye: CSC (5/7 bilateral); choroidal folds (6/7 bilateral), thickening of ocular coats in the 5 in whom this was measured, at least one scleral abnormality on ultrasound in at least one eye. A short axial length at final appointment was recorded in 13/14 eyes.
Conclusions and relevance: The combination of CCSC with choroidal folds, hypermetropia with apparent shortening of the eyeball associated with one or more scleral abnormalities such as a flattened or ‘squared off ‘appearance of the B ultrasound may be a specific ocular condition. The aetiology of this particular combination of posterior segment manifestations is unknown; the choroid could be the primary focus of disease with secondary involvement of the sclera. Alternatively, the features observed may result from a chronic inflammatory process affecting the sclera with secondary effects on the choroid, retinal pigment epithelium and retina. In our case series, the final vision was not significantly different from vision at presentation
Characterisation of the entomopathogenic nematode Heterorhabditk (Nematoda : Heterorhabditidae) from Ireland and Britain by molecular and cross-breeding techniques,and the occurrence of the genus in these islands
Soil surveys were conducted in Ireland and Britain for Heterorhabditis nematodes. Soil samples taken from sandy locations were baited with Galleria rnellonella larvae. Heterorhabditis was detected at 18/169 sites in Ireland, 21.5 1 sites in the North of Scotland, and 9/20 sites in the South of Wales. All of the positive sites were coastal; the genus was not detected at any of the 40 inland sites sampled. All of the 76 isolates recovered in these surveys were identified, using isoelectric focusing, DNA estriction and cross-breeding methods, as belonging to the Irish Group of Heterorhabditis. No member of the North-West European Group of Heterorhabditis was recovered. However, an isolate recovered by other workers and originating in the south of England was identified as belonging to that group. Members of the Irish Group did not generally interbreed with embers of the "E Group from either England or continental Europe, though fertile infective juveniles resulted in a minority (3/15) of intergroup crosses
Light my elbows: a cycling jacket incorporating electronic yarn
There is a need for illuminated cycle clothing that is comfortable and safe when cycling, and stylish to wear during other activities. It is particularly challenging to integrate lighting within textiles without compromising the drape and comfort of the textile structure. A team of electronics, textiles and fashion specialists was formed to design and make an illuminated jacket for use by cyclists. The jacket incorporates bespoke woven panels that integrate electronic yarns within the pattern. These were designed and made for this project, with fluorescent and retroreflective yarns also included in the weave. LEDs integrated within the electronic yarns illuminate the elbows of the jacket, without causing constraint or adding excess volume. The movement of the jacket elbows during cycling widens the body outline and makes the lighting eye-catching.
The collaboration between electronics and textiles experts overcame challenges including development of electrical circuitry designed specifically to fit into the jacket unobtrusively, without interfering with movement or rucksack straps. Electrical connections were required between the electronic yarns assimilated within the weave. Standard, rigid solder joints would have been difficult to form without damaging the cloth and would have been liable to breakage within the garment structure, so embroidery techniques were used to create flexible, conductive connections.
The illuminated jacket provides a working prototype, demonstrating the potential for further collaborative ventures in which electronics are integrated into garments that are stylish, functional and ‘wearable’. Further interdisciplinary research will include the development of additional wearable prototypes that enhance safety and wellbeing, whilst addressing the recycling of the textiles and garments, including the safe separation and disposal of electronic yarn and other components that provide electrical functionality
Serum vascular endothelial growth factor levels in the IVAN trial; relationships with drug, dosing and systemic serious adverse events:Serum VEGF associations with drug, dosing and systemic SAEs
Purpose: To describe serum vascular endothelial growth factor (sVEGF) in patients with neovascular age-related macular degeneration (nAMD) receiving anti-VEGF agents and associations between sVEGF and systemic serious adverse events (SSAEs). Design: Exploratory analyses of a randomized controlled trial that enrolled 610 participants with nAMD and compared 2 anti-VEGF antibodies, ranibizumab and bevacizumab, and 2 treatment regimens, monthly vs. discontinuous, with 2 years’ follow-up. Participants: Adults aged 50+ years with treatment-naïve nAMD and a visual acuity of ≥25 letters (Snellen equivalent 20/320) in the affected eye. Methods: Intravitreal injection of anti-VEGF antibodies. Main Outcome Measures: sVEGF and occurrence of SSAE, with particular interest in arteriothromboembolic events (ATE) and immunologically mediated events (IME). Results: On average, sVEGF (measured at months 0, 1, 11, 12, 23, and 24) decreased from a geometric mean of 168 pg/mL at baseline to 64 pg/mL at month 24. The decrease was greater with bevacizumab than with ranibizumab and was dependent on time since last treatment; at month 24 sVEGF was 11% lower with bevacizumab if treated ≥3 months previously, 51% lower if treated 2 months previously, and 76% lower if treated the previous month, compared with ranibizumab. The hazard of experiencing an ATE increased with age (hazard ratio [HR] = 2.01; 95% confidence interval [CI] = 1.32–3.05; P = 0.001) and higher sVEGF (HR = 1.16; 95% CI = 1.03–1.30, per 100 unit rise in sVEGF; P = 0.013). There was no association between sVEGF and the hazard of an IME (HR = 1.01; 95% CI = 0.76–1.33; P = 0.942); however, the hazard of an IME was significantly increased by treatment with bevacizumab compared with ranibizumab (HR = 3.53; 95% CI = 1.35–9.22; P = 0.010). The hazard of an “other SSAE” (not categorized as ATE or IME) increased with age (HR 1.51, 95% CI 1.14–2.01, P = 0.005) and decreased if an injection had been administered within the previous month (HR = 0.68; 95% CI = 0.45–1.03; P = 0.069). Conclusions: The decrease in sVEGF is greater with bevacizumab than with ranibizumab, but this difference is eliminated when treatment is withheld for 3 months. Higher sVEGF increased the hazard of an ATE and bevacizumab increases the hazard of an IME compared with ranibizumab.</p
The TSC1-2 tumor suppressor controls insulin–PI3K signaling via regulation of IRS proteins
Insulin-like growth factors elicit many responses through activation of phosphoinositide 3-OH kinase (PI3K). The tuberous sclerosis complex (TSC1-2) suppresses cell growth by negatively regulating a protein kinase, p70S6K (S6K1), which generally requires PI3K signals for its activation. Here, we show that TSC1-2 is required for insulin signaling to PI3K. TSC1-2 maintains insulin signaling to PI3K by restraining the activity of S6K, which when activated inactivates insulin receptor substrate (IRS) function, via repression of IRS-1 gene expression and via direct phosphorylation of IRS-1. Our results argue that the low malignant potential of tumors arising from TSC1-2 dysfunction may be explained by the failure of TSC mutant cells to activate PI3K and its downstream effectors
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
AbstractMitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with mitochondrial myopathy 13 years later. She had a stroke with restricted diffusion change in the basal ganglia and internal capsule at age 44 years. Molecular genetic testing identified a previously-reported pathogenic, heteroplasmic mutation in the mitochondrial-encoded transfer RNA tryptophan (MT-TW) gene which based on family studies was likely to have arisen de novo in our patient. Interestingly, we documented an increase in the mutant mtDNA heteroplasmy level in her second biopsy (72% compared to 56%), reflecting the progression of clinical disease
- …