We investigated the natural history of retinal dystrophy owing to variants in the MYO7A gene.PurposeWe investigated the natural history of retinal dystrophy owing to variants in the MYO7A ...gene.Fifty-three patients (mean age, 33.6 ± 16.7 years) with Usher syndrome owing to biallelic, mostly pathogenic, variants in MYO7A underwent baseline and two annual follow-up visits. Best-corrected visual acuity (BCVA), semiautomatic kinetic visual field, full-field electroretinogram, color fundus imaging, microperimetry, spectral-domain optical coherence tomography, and fundus autofluorescence were assessed.MethodsFifty-three patients (mean age, 33.6 ± 16.7 years) with Usher syndrome owing to biallelic, mostly pathogenic, variants in MYO7A underwent baseline and two annual follow-up visits. Best-corrected visual acuity (BCVA), semiautomatic kinetic visual field, full-field electroretinogram, color fundus imaging, microperimetry, spectral-domain optical coherence tomography, and fundus autofluorescence were assessed.At baseline, all patients presented with decreased BCVA (66.4 ± 17.9 Early Treatment Diabetic Retinopathy score and 59.5 ± 21.7 Early Treatment Diabetic Retinopathy score, in the better- and worse-seeing eyes, respectively), restricted semiautomatic kinetic visual field (III4e area, 3365.8 ± 4142.1°2; 4176.4 ± 4400.3°2) and decreased macular sensitivity (9.7 ± 9.9 dB; 9.0 ± 10.2 dB). Spectral-domain optical coherence tomography revealed reduced central macular thickness (259.6 ± 63.0 µm; 250.7 ± 63.3 µm) and narrowed ellipsoid zone band width (2807.5 ± 2374.6 µm; 2615.5 ± 2370.4 µm). Longitudinal analyses (50 patients) showed a significant decrease of BCVA in better-seeing eyes, whereas no changes were observed in worse-seeing eyes for any parameter. BCVA, semiautomatic kinetic visual field (III4e and V4e) and macular sensitivity were related significantly to age at baseline. Hyperautofluorescent foveal patch (16 eyes 31.4%) and abnormal central hypoautofluorescence (9 eyes 17.6%) were significantly associated with worse morphological and functional read-outs compared with the hyperautofluorescent ring pattern (22 eyes 43.1%).ResultsAt baseline, all patients presented with decreased BCVA (66.4 ± 17.9 Early Treatment Diabetic Retinopathy score and 59.5 ± 21.7 Early Treatment Diabetic Retinopathy score, in the better- and worse-seeing eyes, respectively), restricted semiautomatic kinetic visual field (III4e area, 3365.8 ± 4142.1°2; 4176.4 ± 4400.3°2) and decreased macular sensitivity (9.7 ± 9.9 dB; 9.0 ± 10.2 dB). Spectral-domain optical coherence tomography revealed reduced central macular thickness (259.6 ± 63.0 µm; 250.7 ± 63.3 µm) and narrowed ellipsoid zone band width (2807.5 ± 2374.6 µm; 2615.5 ± 2370.4 µm). Longitudinal analyses (50 patients) showed a significant decrease of BCVA in better-seeing eyes, whereas no changes were observed in worse-seeing eyes for any parameter. BCVA, semiautomatic kinetic visual field (III4e and V4e) and macular sensitivity were related significantly to age at baseline. Hyperautofluorescent foveal patch (16 eyes 31.4%) and abnormal central hypoautofluorescence (9 eyes 17.6%) were significantly associated with worse morphological and functional read-outs compared with the hyperautofluorescent ring pattern (22 eyes 43.1%).Our European multicentric study offers the first prospective longitudinal analysis in one of the largest cohorts of MYO7A patients described to date, confirming the slow disease progression. More important, this study emphasizes the key role of fundus autofluorescence patterns in retinal impairment staging and advocates its adoption as an objective biomarker in patient selection for future gene therapy clinical trials.ConclusionsOur European multicentric study offers the first prospective longitudinal analysis in one of the largest cohorts of MYO7A patients described to date, confirming the slow disease progression. More important, this study emphasizes the key role of fundus autofluorescence patterns in retinal impairment staging and advocates its adoption as an objective biomarker in patient selection for future gene therapy clinical trials.
Lateral epicondylitis (LE) is a common musculoskeletal condition presenting with pain due to overuse of common extensor tendon. It is treated with many different methods. The aim of this study is to ...compare efficacy of kinesiology taping (KT) and sham taping in addition to exercise or exercises only in the treatment of LE.
Thirty patients, aged 25–68 years, with clinically diagnosed LE less than 12 weeks were randomized into three groups; KT (n=10), sham taping (n=10) and control (exercises only) (n=10) groups. All groups received home exercise program including strengthening and stretching exercises. In KT and sham taping groups, tapings were performed and changed every 3–4 days for two weeks. Visual Analog Scale (VAS), grip strength, the Disabilities of the Arm, Shoulder and Hand (QuickDash) and The Patient-Rated Tennis Elbow Evaluation (PRTEE) scales were used for assessments before and after treatment. The immediate effect was assessed by VAS and grip strength immediately after both tapings.
Among the KT, sham and control groups, there were statistically significant differences regarding the changes in VAS at activities of daily living (ADL) (−2.5, 0, 0; P=0.02) and PRTEE (−26.25, 0.5, 1.25; P=0.006). Post-hoc analyses revealed that VAS at ADL and PRTEE (P<0.01) showed significantly greater improvement in the KT group than sham taping and control groups. VAS at ADL (P=0.007), painless and maximum grip strength (P=0.03; P=0.04), QuickDash (P=0.03) and total PRTEE (P=0.004) scores were significantly lower after treatment compared to baseline in the KT group. Grip strength immediately increased after taping in the KT group (P=0.02). Neither sham taping group nor control group showed improvement in any of the outcome measures after treatment.
Kinesiology taping in addition to exercise is more effective than sham taping and exercises only for improving pain at ADL and arm disability due to LE.
Hypercoagulability and thrombosis remain a challenge in severe coronavirus disease 2019 (COVID-19) infections. Our aim is to investigate the hemostatic profile of critically ill COVID-19 patients on ...therapeutic anticoagulant treatment.Forty one patients were enrolled into the study. We recruited 11 consecutive, COVID-19, patients who received therapeutic anticoagulant treatment on intensive care unit (ICU) admission. Disease severity indexes, biochemical, hematological and haemostatic parameters, endogenous thrombin potential (ETP), plasminogen activator inhibitor-1 (PAI-1) activity and extrinsically activated rotational thromboelastometry assay (EXTEM) were recorded on days 1, 3, 7. We also enrolled 9 ICU non-COVID-19, 21 non-ICU COVID-19 patients and 20 healthy blood donors as control populations.Critically ill COVID-19 patients demonstrated a more hypercoagulable and hypofibrinolytic profile related to those with COVID-19 mild illness, based on EXTEM amplitude at 10 min (A10), maximum clot firmness (MCF) and lysis index at 60 min (LI60) variables (p = 0.020, 0.046 and 0.001, respectively). Similarly, a more hypercoagulable state was detected in COVID-19 ICU patients related to non-COVID-19 ICU patients based on A10 and MCF parameters (p = 0.03 and 0.04, respectively). On the contrary, ETP and EXTEM (clotting time) CT values were similar between patients with severe and mild form of the COVID-19 infection, probably due to anticoagulant treatment given.Critically ill COVID-19 patients showed a hypercoagulable profile despite the therapeutic anticoagulant doses given. Due to the small sample size and the study design, the prognostic role of the hypercoagulability in this clinical setting remains unknown and further research is required in order to be assessed.
Time-dependent measurements are essential to describe the temperature and heat transfer coefficient development lead to understanding the unsteady nature of tunnel kiln behavior during cooling. The ...present paper introduces experimental investigations in a brick tunnel kiln equipped with a U-shape guide vane to monitor its transient thermal behavior. The experimental test rig of scale 1:4 has been fabricated for this purpose. Three U-shape guide vanes have attack angles (θ = 120°, 135°, and 150°) positioned in the flow direction are used to direct the flow to the confined zone among bricks columns. Two settings with a Reynolds number range from 14285 to 25480 are used. The results revealed that in absence of vanes, the average heat transfer coefficient (AHTC) has low values compared to that with vanes. The highest values of AHTC are obtained at vane angle θ = 135° , over the whole time. The Longitudinal middle bricks have the highest heat transfer coefficient for all vane angles due to high flow velocity with a good air-cooling rate. The maximum augmentation reached 48% at vane angle, θ = 135°, for setting 7. The guide vanes have beneficial features when used as a turbulence generator to improve the heat transfer rate from the brick setting.
Thermoluminescence (TL) glow curves of pure and rare earth doped bismuth germanate (BGO) were investigated under UV and beta radiation. The glow curves of pure BGO crystal present different patterns ...for both kinds of radiation. The TL glow curves of BGO crystals doped with Nd ions are similar to that of pure BGO under UV radiation. The kinetic parameters, kinetic order (b), activation energy (E) and frequency factor (s) of the TL glow curves of pure BGO crystal have been determined by peak shape method. Activation energies of 3 peaks obtained by PS were found to be 1.81, 1.15 and 1.78, respectively.
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•Thermoluminescence properties of pure and Nd doped BGO crystals.•Irradiated by UV and beta for TL glow curve analysis.•Evaluation of kinetic parameters by PS method.
The current research study aims at investigating the atmospheric implications of a major fire event in the Mediterranean area. For this purpose, a regional aerosol model coupled online with ...meteorology (COSMO-ART) is applied over Greece during late summer 2007. Fire risk model results proved to be adequate in reproducing the highly destructive event, which supports further applications for national meteorological forecasts and early warning systems for fire prevention. Columnar aerosol loading field predictions are consistent with satellite maps, which further allows for the correlation of this wildfire event to the atmospheric chemistry and the radiative forcing. Gaseous chemistry resembles that in urban environments and led to nitrogen dioxide and ozone exceedances in several cities in proximity to and downwind the fire spots, respectively. Influence in Athens is found significant from the Euboean plume (45% of total surface PM10) and small (5%) from the fires in Peloponnese. Fire events are indicated by sharp increases in organic to elemental carbon (6), together with sharp decreases in secondary to total organic components (0.1), in comparison to their values during the pre- and post-fire period over Athens (1 and 0.6, respectively). The change in the radiative budget induced by the fire plume is found negative (3-day-average value up to −10 W m−2). Direct heat input is found negligible, thus the net temperature effect is also negative over land (−0.5 K). Nevertheless, positive temperature changes are found overseas (hourly value up to +2 K), due to the amplified radiation absorption by aged soot, coupled to the intense stabilization of the atmosphere above the sea surface.
•Fire danger forecasting by COSMO-ART is proven.•Forest burning results to tripled AOD values (0.75–1) than these in non-fire periods.•Fires contribute around 50% to the total PM10, 60 km downwind fire spots (Athens).•The radiative impact of fire-induced aerosol is negative (3-day-average of −10 W m−2).•The effect of fire plume on air temperature is −0.5/−5 K (3-day-average/hourly value).
Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for ...IRDs is around 60%, mainly thanks to the routine application of next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole-genome sequencing (WGS) has been reported to improve this diagnostic rate by revealing elusive variants, such as structural variants (SVs) and deep intronic variants (DIVs).
We performed WGS on 33 unsolved cases with suspected autosomal recessive IRD, aiming to identify causative genetic variants in non-coding regions or to detect SVs that were unexplored in the initial screening. Most of the selected cases (30 of 33, 90.9%) carried monoallelic pathogenic variants in genes associated with their clinical presentation, hence we first analyzed the non-coding regions of these candidate genes. Whenever additional pathogenic variants were not identified with this approach, we extended the search for SVs and DIVs to all IRD-associated genes.
Overall, we identified the missing causative variants in 11 patients (11 of 33, 33.3%). These included three DIVs in ABCA4, CEP290 and RPGRIP1; one non-canonical splice site (NCSS) variant in PROM1 and three SVs (large deletions) in EYS, PCDH15 and USH2A. For the previously unreported DIV in CEP290 and for the NCCS variant in PROM1, we confirmed the effect on splicing by reverse transcription (RT)-PCR on patient-derived RNA.
This study demonstrates the power and clinical utility of WGS as an all-in-one test to identify disease-causing variants missed by standard NGS diagnostic methodologies.
In this study we confirmed the diagnostic power of whole genome sequencing as an all-in-one test to investigate the missing genetic cause in unexplained inherited retinal disease patients, since it allows the identification of all types of variants, from single nucleotide variants (both in coding and non-coding regions) to structural variants.
Influence of barrier material and structure on carrier quantum confinement in GaAsBi quantum wells (QWs) is studied comprehensively. Single- and multi-QW structures were grown using solid-state ...molecular beam epitaxy with conventional rectangular, step-like and parabolically graded AlGaAs barrier designs. It was discovered that room temperature photoluminescence is increased by more than 50 times in the GaAsBi QWs with parabolically graded barriers (PGBs) if compared to standard rectangular and step-like structures. The enhancement of photoluminescence was reproducible within the range of growth parameters. The carrier localization and increase of trapping efficiency in GaAsBi QWs is responsible for observed enhancement in radiative properties of PGB structures. The random potential field fluctuations for carriers were increased up to 44 meV due to the blurred well-barrier interface causing the conditions for Bi content and/or well width variations. Due to the impact of self-organizing effects on the reproducibility of optical properties, the GaAsBi QWs with AlGaAs PGBs open the window for fabrication of 1.0-1.55 m wavelength emission lasers based on GaAsBi quantum structures.
Yttrium tantalate (YTaO4), yttrium niobium-tantalate (YTaNbO4), yttrium niobate (YNbO4), europium and terbium activated yttrium tantalate (YTaO4:Eu, YTaO4:Tb) and europium activated yttrium niobate ...(YNbO4:Eu) phosphors were prepared by solid-state reaction, from a homogeneous mixture consisting of Y2O3, Eu2O3, Tb4O7, Ta2O5, Nb2O5 and Na2SO4 as flux. Photoluminescence (PL), thermally stimulated luminescence (TSL), X-ray diffraction (XRD) and scanning electron microscopy (SEM) of yttrium tantalate based phosphors are reported. In the present study TSL characteristics of these phosphors were first investigated and reported after exposure to beta, UV (311nm) and X-ray radiations.
► Some yttrium tantalate-based phosphors are perspective materials for optoelectronics. ► Phosphors samples were prepared by solid-state reaction route. ► The techniques such as XRD, SEM and luminescence are used for these phosphors. ► The paper presents the influence of activator concentration and PL characteristics. ► TSL characteristics of these phosphors were first investigated.
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