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Purpose: Fundus albipunctatus is an inherited cause of congenital stationary night blindness. The objective of this report is to describe structural changes occurring in a macular phenotype of a novel RDH5 mutation producing fundus albipunctatus using high-resolution in vivo imaging. A 62-year-old male with longstanding night blindness underwent imaging and genetic evaluation. High-resolution images of the photoreceptor mosaic were compared to those of a healthy subject. Results of a comprehensive ophthalmic evaluation and genetic testing with imaging including fundus photography, spectral-domain optical coherence tomography (OCT), fluorescein angiography (FA), OCT angiography (OCT-A), and adaptive optics scanning light ophthalmoscopy (AOSLO) are described. Observations: The patient presented with visual acuity of 20/25 in both eyes and longstanding poor dark adaptation. Anterior segment examination was unremarkable. Fundoscopy revealed well circumscribed bilateral perifoveal mottling and atrophy in both eyes. Discrete white-yellow flecks were present beyond the vascular arcades extending to the far periphery. Genetic testing revealed a novel compound heterozygous RDH5 mutation (c.388C > T, p.Gln130*; c.665T > C, p.Leu222Pro). OCT demonstrated perifoveal photoreceptor and outer retinal irregularities, which corresponded to a window defect with late staining on FA. OCT-A demonstrated normal retinal vasculature with patchy areas of non-perfusion in the choriocapillaris. Macular abnormalities in both eyes were imaged using AOSLO to assess cone and rod photoreceptor architecture. While clinical features are consistent with a primary rod disorder, confocal AOSLO showed a paucity of normal cones with a small spared central island in both eyes. Rods appeared larger and more irregular throughout the macula. Non-confocal split detection AOSLO imaging revealed the presence of cone inner segments in dark regions of confocal imaging, indicating some degree of photoreceptor preservation. Conclusions and Importance: The AOSLO imaging of this particular macular phenotype of fundus albipunctatus demonstrates some of the structural photoreceptor abnormalities that occur in this condition, adding insight to the variable presentation of RDH5 retinopathy. The presence of preserved inner segment architecture suggests the possibility that gene therapy could play a future role in treating this condition.

In a prior study on electronic cigarette (EC) refill fluids, Cinnamon Ceylon was the most cytotoxic of 36 products tested. The purpose of the current study was to determine if high cytotoxicity is a general feature of cinnamon-flavored EC refill fluids and to identify the toxicant(s) in Cinnamon Ceylon. Eight cinnamon-flavored refill fluids, which were screened using the MTT assay, varied in their cytotoxicity with most being cytotoxic. Human embryonic stem cells were generally more sensitive than human adult pulmonary fibroblasts. Most products were highly volatile and produced vapors that impaired survival of cells in adjacent wells. Cinnamaldehyde (CAD), 2-methoxycinnamaldehyde (2MOCA), dipropylene glycol, and vanillin were identified in the cinnamon-flavored refill fluids using gas chromatography–mass spectrometry and high-pressure liquid chromatography (HPLC). When authentic standards of each chemical were tested using the MTT assay, only CAD and 2MOCA were highly cytotoxic. The amount of each chemical in the refill fluids was quantified using HPLC, and cytotoxicity correlated with the amount of CAD/product. Duplicate bottles of the same product were similar, but varied in their concentrations of 2MOCA. These data show that the cinnamon flavorings in refill fluids are linked to cytotoxicity, which could adversely affect EC users.

Research on the National Spherical Torus Experiment, NSTX, targets physics understanding needed for extrapolation to a steady-state ST Fusion Nuclear Science Facility, pilot plant, or DEMO. The unique ST operational space is leveraged to test physics theories for next-step tokamak operation, including ITER. Present research also examines implications for the coming device upgrade, NSTX-U. An energy confinement time, τE, scaling unified for varied wall conditions exhibits a strong improvement of BTτE with decreased electron collisionality, accentuated by lithium (Li) wall conditioning. This result is consistent with nonlinear microtearing simulations that match the experimental electron diffusivity quantitatively and predict reduced electron heat transport at lower collisionality. Beam-emission spectroscopy measurements in the steep gradient region of the pedestal indicate the poloidal correlation length of turbulence of about ten ion gyroradii increases at higher electron density gradient and lower Ti gradient, consistent with turbulence caused by trapped electron instabilities. Density fluctuations in the pedestal top region indicate ion-scale microturbulence compatible with ion temperature gradient and/or kinetic ballooning mode instabilities. Plasma characteristics change nearly continuously with increasing Li evaporation and edge localized modes (ELMs) stabilize due to edge density gradient alteration. Global mode stability studies show stabilizing resonant kinetic effects are enhanced at lower collisionality, but in stark contrast have almost no dependence on collisionality when the plasma is off-resonance. Combined resistive wall mode radial and poloidal field sensor feedback was used to control n = 1 perturbations and improve stability. The disruption probability due to unstable resistive wall modes (RWMs) was surprisingly reduced at very high βN/li > 10 consistent with low frequency magnetohydrodynamic spectroscopy measurements of mode stability. Greater instability seen at intermediate βN is consistent with decreased kinetic RWM stabilization. A model-based RWM state-space controller produced long-pulse discharges exceeding βN = 6.4 and βN/li = 13. Precursor analysis shows 96.3% of disruptions can be predicted with 10 ms warning and a false positive rate of only 2.8%. Disruption halo currents rotate toroidally and can have significant toroidal asymmetry. Global kinks cause measured fast ion redistribution, with full-orbit calculations showing redistribution from the core outward and towards V∥/V = 1 where destabilizing compressional Alfvén eigenmode resonances are expected. Applied 3D fields altered global Alfvén eigenmode characteristics. High-harmonic fast-wave (HHFW) power couples to field lines across the entire width of the scrape-off layer, showing the importance of the inclusion of this phenomenon in designing future RF systems. The snowflake divertor configuration enhanced by radiative detachment showed large reductions in both steady-state and ELM heat fluxes (ELMing peak values down from 19 MW m-2 to less than 1.5 MW m-2). Toroidal asymmetry of heat deposition was observed during ELMs or by 3D fields. The heating power required for accessing H-mode decreased by 30% as the triangularity was decreased by moving the X-point to larger radius, consistent with calculations of the dependence of E × B shear in the edge region on ion heat flux and X-point radius. Co-axial helicity injection reduced the inductive start-up flux, with plasmas ramped to 1 MA requiring 35% less inductive flux. Non-inductive current fraction (NICF) up to 65% is reached experimentally with neutral beam injection at plasma current Ip = 0.7 MA and between 70-100% with HHFW application at Ip = 0.3 MA. NSTX-U scenario development calculations project 100% NICF for a large range of 0.6 < Ip (MA) < 1.35. © 2013 IAEA, Vienna.

ObjectivesTo examine interocular asymmetry of foveal avascular zone (FAZ) and parafoveal capillary density metrics in sickle cell retinopathy (SCR) using optical coherence tomography angiography (OCT-A).MethodsThis cross-sectional, retrospective study evaluated SCR patients and unaffected controls who underwent 3x3mm macular OCT-A imaging using a spectral domain-OCT system. FAZ (area, perimeter, and acircularity index) and parafoveal capillary density metrics were computed for both eyes of each participant. In unaffected controls, interocular difference in FAZ and parafoveal capillary density metrics were evaluated using Bland-Altman plots. SCR patients with interocular difference outside the upper 97.5% and lower 2.5% limits of agreement from controls were defined as having interocular asymmetry. Area under receiver operating characteristic curve (AROC) was also performed to determine the ability of the absolute interocular difference to differentiate between subjects with SCR-including non-proliferative SCR (NP-SCR) and proliferative SCR (P-SCR)-and unaffected controls.ResultsThirty-one patients with SCR (21 NP-SCR and 10 P-SCR) and 14 race-matched and age-matched controls were included for analysis. Interocular asymmetry was seen for all FAZ and parafoveal capillary density metrics in NP-SCR and P-SCR subjects. SCR subjects showed greater disease severity in the left-eye for FAZ and parafoveal capillary density metrics.ConclusionsNP-SCR and P-SCR patients demonstrated quantifiable interocular asymmetry in FAZ and parafoveal capillary density metrics compared to unaffected subjects, with left-eye predominance in disease severity.