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Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and improve pathophysiological understanding, we characterized the course of Gaucher disease and explored the influence of costly innovative medication and other interventions. Retrospective and prospective clinical, laboratory and radiological information including molecular analysis of the GBA1 gene and comprising > 2500 variables were collected systematically into a relational database with banking of collated biological samples in a central bioresource. Data for deep phenotyping and life-quality evaluation, including skeletal, visceral, haematological and neurological manifestations were recorded for a median of 17.3 years; the skeletal and neurological manifestations are the main focus of this study. Results At baseline, 223 of the 250 patients were classified as type 1 Gaucher disease. Skeletal manifestations occurred in most patients in the cohort (131 of 201 specifically reported bone pain). Symptomatic osteonecrosis and fragility fractures occurred respectively in 76 and 37 of all 250 patients and the first osseous events occurred significantly earlier in those with neuronopathic disease. Intensive phenotyping in a subgroup of 40 patients originally considered to have only systemic features, revealed neurological involvement in 18: two had Parkinson disease and 16 had clinical signs compatible with neuronopathic Gaucher disease—indicating a greater than expected prevalence of neurological features. Analysis of longitudinal real-world data enabled Gaucher disease to be stratified with respect to advanced therapies and splenectomy. Splenectomy was associated with an increased hazard of fragility fractures, in addition to osteonecrosis and orthopaedic surgery; there were marked gender differences in fracture risk over time since splenectomy. Skeletal disease was a heavy burden of illness, especially where access to specific therapy was delayed and in patients requiring orthopaedic surgery. Conclusion Gaucher disease has been explored using real-world data obtained in an era of therapeutic transformation. Introduction of advanced therapies and repeated longitudinal measures enabled this heterogeneous condition to be stratified into obvious clinical endotypes. The study reveals diverse and changing phenotypic manifestations with systemic, skeletal and neurological disease as inter-related sources of disability.

The formation of continuum neutron distribution in $^7$Li(p,n) has been identified as due to the coupling of the $^7$Be breakup levels to the final state of the reaction. The continuum neutron spectra produced by $^7$Li(p,n) reaction has been estimated by measuring the double differential cross sections for continuum and resonant breakup of $^7$Be, through $^7$Li(p,n)$^7$Be$^*$ reaction at 21 MeV of proton energy. The breakup contributions from continuum and $5/2^-$, $7/2^-$ states of $^7$Be have been identified. The measured double differential cross sections have been reproduced through CDCC-CRC calculations. The cross sections were projected to neutron spectrum using Monte-Carlo approach and validated using experimentally measured $^3$He gated neutron spectra. $^7$Li(p,n) neutron spectrum at 20 MeV incident proton energy measured by McNaughton. et al. has been reproduced by adapting estimated model parameters for the reaction.

MgB2 is a promising material for intermediate temperature applications where conventional low temperature superconductors cannot be used, especially if the range of magnetic fields over which is has acceptable current carrying performance can be expanded. However, its applicability is limited by poor properties at elevated magnetic fields. Carbon-based dopants can be used to dramatically improve the high-field performance of MgB2, but at the cost of a reduction in the superconducting transition temperature (T c) that limits the operation temperature to 20 K or below. Here we report an enhancement of superconducting performance of MgB2 with the addition of cubic and hexagonal boron nitride (BN), without any significant reduction in T c. Ex-situ bulk samples of MgB2 with two forms of BN addition were manufactured by the field assisted sintering technique after high energy ball milling of powder mixtures. We find that hexagonal BN (hBN) nanoparticles mixed homogenously with MgB2 powder react much more easily to produce Mg–N–B impurities than larger cubic BN (cBN) particles (∼10 µm) under the same processing conditions. The addition of 1 wt% hBN or 5 wt% cBN combined with 6 h of milling has been demonstrated to improve the critical current density (J c) of MgB2 over the entire magnetic field range. It is proposed that the nano-sized Mg–N–B impurities, that typically reside at MgB2 grain boundaries, increase pinning strength by introducing additional flux pinning centres. In addition, excess Mg may benefit the low-field performance by improving the connectivity. This work shows the significance of microstructural characterization on inhomogeneous superconducting materials to analyse their performance.

Computer vision (CV) algorithms are widely utilized in imaging processing for medical and personal electronics applications. In sensorics CV can provide a great potential to quantitate chemosensors' signals. Here we wish to describe a method for the CV-assisted spectrofluorometer-free detection of common nitro-explosive components,e.g.2,4-dinitrotoluene (DNT) and 2,4,6-trinitrotoluene (TNT), by using polyaromatic hydrocarbon (PAH, PAH = 1-pyrenyl or 9-anthracenyl) - basedbola-type chemosensors. The PAH components of these chemicalbolasare able to form stable, bright emissive in a visual wavelength region excimers, which allows their use as extended matrices of the RGB colors after imaging and digital processing. In non-polar solvents, the excimers have poor chemosensing properties, while in aqueous solutions, due to the possible micellar formation, these excimers provide “turn-off” fluorescence detection of DNT and TNT in the sub-nanomolar concentrations. A combination of these PAH-based fluorescent chemosensors with the proposed CV-assisted algorithm offers a fast and convenient approach for on-site, real-time, multi-thread analyte detection without the use of fluorometers. Although we focus on the analysis of nitro-explosives, the presented method is a conceptual work describing a general use of CV for quantitative fluorescence detection of various analytes as a simpler alternative to spectrofluorometer-assisted methods. © The Royal Society of Chemistry 2021. This work was supported by RFBR, project number 19-33-90155.

The chemistry of hypervalent iodine(III) reagents have widely been explored in many organic transformations for the construction of C-C as well as C-N bonds especially for their environmentally benign behavior, low toxicity and milder reaction conditions. The synthetic usefulness of such reagents has been experienced in many ring transformations as well as arylation reactions due to their excellent yield of the products and selectivities. This work was supported by the Russian Science Foundation (# 20-73-10205) and the Russian Foundation for Basic Research (grant # 19-53-55002).

S. Santra is thankful to the Russian Science Foundation - Russia (Ref. № 18-73-00301) for funding. We are also thankful to RFBR № 20-33-70074.

Transition metal catalyzed carbonylation reactions have become most sought-after technology for the utilization of toxic gases such as carbon monoxide and carbon dioxide. These gases are important C1 building block for the development of industrial core technology through the conversion of bulk and fine chemicals into useful compounds.[1] However, the direct use of these gases has been restricted because of their inherent toxicity, need of sophisticated reactors and careful handling of such instruments as the ppm level of gas leakage may cause serious problems. The introduction of solid COsurrogates therefore highly desirable for the carbonylative transformation which must be safe to handle, stable at ambient temperature and cost effective. This work was supported by the Russian Foundation for Basic Research (grant # 19-53-55002).