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Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The female proband, her brother, and both her sons showed typical RP, with diminished or non-recordable full-field electroretinogram, narrowing of visual field, and variable losses of central vision. To investigate this apparently autosomal dominant pedigree, next generation sequencing (NGS) of a custom panel of RP-related genes was performed, further enhanced by bioinformatic detection of copy-number variations (CNVs). Unexpectedly, all patients had a compound heterozygosity involving two known pathogenic EYS variants i.e., the exon 33 frameshift mutation c.6714delT and the exon 29 deletion c.(5927þ1_5928-1)_(6078þ1_6079-1)del, with the exception of the youngest son who was homozygous for the above-detailed frameshift mutation. No pathologic eye conditions were instead observed in the proband’s husband, who was a heterozygous healthy carrier of the same c.6714delT variant in exon 33 of EYS gene. These findings provide evidence that pseudodominant pattern of inheritance can hide an autosomal recessive RP partially or totally due to CNVs, recommending CNVs study in those pedigrees which remain genetically unsolved after the completion of NGS or whole exome sequencing analysis. [ABSTRACT FROM AUTHOR]

AbstractThe latest investigations of Fukushima Daiichi Unit 1 have demonstrated that corium attack to the pedestal walls and pedestal floor has occurred in Fukushima Daiichi Unit 1 to a certain extent. The results of past analytical benchmarks, such as the Organisation for Economic Co-operation and Development (OECD)/Nuclear Energy Agency (NEA) Benchmark Study of the Accident at the Fukushima Daiichi Nuclear Power Plant (BSAF project), have agreed with this finding. However, the latest investigation does not show evidence of unlimited molten core–concrete interaction (MCCI), which is one of the main discrepancies from the BSAF project.More recently a MCCI benchmark has been launched in the context of the OECD/NEA project ARC-F (Analysis of Information from Reactor Building and Containment Vessels of Fukushima Daiichi Nuclear Power Station). In the benchmark, common geometry, boundary, and initial conditions have been selected among all the participants. The results show an improved agreement among different codes for what concerns overall erosion, corium temperature, and hydrogen generation, confirming that to some extent, the earlier scatter found in these variables came from differences in the MCCI scenario modeled by each partner.However, common unlimited erosion, not observed by onsite visual inspections, is still predicted. Understanding the origin of this deviation might provide insights into boundary conditions, model drawbacks, or ill-posed assumptions that might need to be revisited (e.g. interfacial temperature, effective heat transfer coefficients, concrete heat transfer). In this paper, a summary of the overall results and a discussion of modeling and boundary conditions is presented to disclose the results of the activity and the future steps to be taken in the OECD/NEA project FACE (Fukushima Daiichi Nuclear Power Station Accident Information Collection and Evaluation). [ABSTRACT FROM AUTHOR]

Accomplishing the retrieval of fuel debris from Fukushima Daiichi Nuclear Power Plant (1F) Unit 3 (1F3) requires an understanding of its distribution. In this study, we performed real-scale corium spreading and sedimentation behavior analyses using Lagrangian moving particle hydrodynamics and large eddy simulation methods. These methods allowed us to calculate the spreading of corium with various shear viscosities under water conditions and to propose the best estimation for the fuel debris distribution in 1F3. To minimize uncertainties arising from unknown boundary conditions, we investigated relevant parameters through literature review. Our analyses showed that highly viscous corium tends to pile up within the pedestal region under strong convective vapor and boiling heat transfer, while low-viscosity corium spreads to the outside of the pedestal regions regardless of cooling efficiency. We identified three cooling modes based on initial shear viscosity and cooling efficiency and predicted the fuel debris distribution in 1F3 by comparing our results to those of the Tokyo Electric Power Company (TEPCO) and Organisation for Economic Co-operation and Development/Nuclear Energy Agency (OECD/NEA) Benchmark Study of the Accident at the Fukushima Daiichi Nuclear Power Station (BSAF) project. The distribution estimation of highly viscous corium derived from oxidic corium is consistent with the three-dimensional reconstructed image by TEPCO and the calculated results by the OECD/NEA BSAF project. [ABSTRACT FROM AUTHOR]

The advancement of sodium-cooled fast reactors (generation IV) faces a critical challenge related to core disruptive accidents. A primary issue is the boron carbide (B4C) and stainless steel (SS) eutectic reaction, leading to premature melting and molten pool formation with boron, affecting neutron balance. This study pioneers the use of radiative heating for high-resolution visualisation and quantification of the eutectic melt composition, providing a novel approach to observing the melting and candling phenomena. Experimental investigations were conducted with B4C pellets and powder in SS hollow claddings, replicating control rods, from 1150 to 1372 °C. The eutectic temperature for B4C pellets was found to be higher than that for B4C powder and invariant with the heating rate. Key findings include two distinct failure processes: SS cladding detachment forming molten droplets and fragmentation of B4C pellets, with sintering observed in B4C powder. X-ray diffraction analysis identified boride phases B0.9Cr0.9Fe1.1, (Cr,Fe)2B, γ-Fe, (Cr,Fe)23(B,C)6, and (Cr,Fe)5B3, solidified at 48–50 °C in argon. This novel study elucidates the eutectic behaviour and boride phase formation in severe reactor conditions, providing critical insights for reactor safety. [ABSTRACT FROM AUTHOR]

Background: Despite increasing evidence shows that optimising ocular surface before cataract surgery is fundamental in patients with pre-existing dry eye disease (DED) to achieve the desired postoperative outcomes, the prophylactic treatment of healthy patients undergoing surgery aiming at preventing iatrogenic DED is worth investigating., Methods: This was a prospective, interventional, randomised, controlled, double-masked clinical trial. Patients were randomly assigned 1:1 to receive either low-level light therapy (LLLT) or sham treatment (LLLT with a power output <30%). Patients underwent two treatment sessions: 7±2 days before cataract surgery (T0) and 7±2 days after (T1). Outcome measures evaluated 30±4 days after surgery (T2) included Ocular Surface Disease Index (OSDI) questionnaire, non-invasive break-up time (NIBUT), tear meniscus height, meibomian gland loss (MGL) and redness score., Results: Out of 153 patients randomised to receive LLLT (n=73) or sham treatment (n=80), 131 (70 men, 61 women, mean age 73.53±7.29 years) completed regularly the study. Patients treated with LLLT had significantly lower OSDI scores compared with controls at T1 and T2 (respectively, 7.2±8.8 vs 14.8±13.0 and 9.0±9.0 vs 18.2±17.9; both p<0.001), higher NIBUT values at T2 (12.5±6.6 vs 9.0±7.8; p=0.007) and lower MGL Meiboscore values at T1 (1.59±0.70 vs 1.26±0.69; p=0.008). Unlike controls, patients treated with LLLT had significantly lower OSDI scores and higher NIBUT values at T2 compared with T0 (respectively, 9.0±9.0 vs 21.2±16.1; p<0.001 and 12.5±6.6 vs 9.7±7.2; p=0.007)., Conclusion: Two sessions of LLLT performed before and after cataract surgery were effective in ameliorating tear film stability and ocular discomfort symptoms., Trial Registration Number: NCT05754437., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Malpighiaceae has undergone unprecedented changes in its traditional classification in the past two decades due to several phylogenetic studies shedding light on the non-monophyly of all subfamilies and most tribes and genera. Even though morphological characters were used to reconstruct the last molecular generic phylogeny of Malpighiaceae, a new classification system has never been proposed for this family. Based on a comprehensive review of the last twenty years of published studies for this family, we propose a new classification system and provide a taxonomic synopsis for Malpighiaceae based on molecular phylogenetics, morphology, palynology, and chemistry as a baseline for the systematics, conservation, and taxonomy of this family worldwide. Malpighiaceae currently comprises two subfamilies (Byrsonimoideae and Malpighioideae), 12 tribes ( Acmanthereae, Acridocarpeae trib. nov. , Barnebyeae trib. nov. , Bunchosieae trib. nov. , Byrsonimeae, Galphimieae, Gaudichaudieae, Hiptageae, Hiraeeae, Malpighieae, Mcvaughieae trib. nov. , and Ptilochaeteae trib. nov. ), 72 genera (incl. Mamedea gen. nov. ), and 1,499 accepted species (715 of which are currently under some kind of extinction threat). We present identification keys for all subfamilies, tribes, and genera, a full morphological description for the proposed new genus, the re-circumscription of ten genera alongside the needed new combinations, the proposition of several new synonyms, the typification of several names, and notes on the taxonomy, distribution, conservation, and ecology up to the genus rank. Morphological plates are also provided to illustrate the immense diversity of morphological traits used in the new classification and synopsis., Competing Interests: The authors have declared that no competing interests exist., (Rafael F. de Almeida, Isa L. de Morais, Thais Alves-Silva, Higor Antonio-Domingues, Marco O. O. Pellegrini.)