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Introduction: Hereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb–girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving more than 30 genes. Clinically, LGMD is characterized by limb–girdle muscular weakness (LGMW). Late-onset Pompe disease is an important disorder with a differential diagnosis for LGMD, where next-generation sequencing (NGS) plays a crucial role in accurate and prompt diagnosis. The sensitivity and specificity of a 10-gene NGS panel have been previously evaluated for the prevalent forms of recessive LGMD (LGMD-R) and Pompe disease in Latin American patients with LGMW of unknown cause. This project aims to identify the regional relative prevalence of frequent LGMD-R subtypes and Pompe disease in a larger geographic area and to diagnose patients with LGMW by identifying genetic variants of LGMD-R and Pompe disease. Methods and Results: This 21-country multicentric analysis enrolled 2,372 patients with LGMW from 2017 to 2018. Sequencing analysis was performed using the Illumina NextSeq 500 system, and variant interpretation was performed according to the American College of Medical Genetics and Genomics guidelines. Pathogenic or likely pathogenic variants were seen in 11% of patients (n = 261). Among the positive cases, NGS effectively diagnosed 86.2% and 13.8% of patients with LGMD and Pompe disease, respectively. The most prevalent pathogenic acid α-glucosidase (GAA) variant identified was c.-32-13T > G. Conclusion: The study adds to the knowledge of the relative occurrence of various subtypes of LGMD worldwide. The inclusion of GAA in the NGS panel to investigate patients with LGMW is a powerful diagnostic approach to screen for late-onset Pompe disease. [ABSTRACT FROM AUTHOR]

The advents of fully coherent free electron lasers and diffraction limited synchrotron storage ring sources of x-rays are catalyzing the development of new, ultra-high accuracy metrology methods. To fully exploit the potential of these sources, metrology needs to be capable of determining the figure of an optical element with sub-nanometer height accuracy. Currently, the two most prevalent slope measuring instruments used for characterization of x-ray optics are the auto-collimator based nanometer optical measuring device (NOM) and the long trace profiler (LTP) using pencil beam interferometry (PBI). These devices have been consistently improved upon by the x-ray optics metrology community, but appear to be approaching their metrological limits. Here, we revise the traditional optical schematic of the LTP. We experimentally show that, for the level of accuracy desired for metrology with state-of-the-art x-ray optics, the Dove prism in the LTP reference channel appears to be one of the major sources of instrumental error. Therefore, we suggest returning back to the original PBI LTP schematics with no Dove prism in the reference channel. In this case, the optimal scanning strategies [Yashchuk, Rev. Sci. Instrum. 80, 115101 (2009)] used to suppress the instrumental drift error have to be used to suppress a possible drift error associated with laser beam pointing instability. We experimentally and by numerical simulation demonstrate the usefulness of the suggested approach for measurements with x-ray optics with both face up and face down orientations.

The development of deterministic polishing techniques has given rise to vendors that manufacture high quality threedimensional x-ray optics. The surface metrology on these optics remains a difficult task. For the fabrication, vendors usually use unique surface metrology tools, generally developed on site, that are not available in the optical metrology labs at x-ray facilities. At the Advanced Light Source X-Ray Optics Laboratory, we have developed a rather straightforward interferometric-microscopy-based procedure capable of sub microradian characterization of sagittal slope variation of x-ray optics for two-dimensionally focusing and collimating (such as ellipsoids, paraboloids, etc.). In the paper, we provide the mathematical foundation of the procedure and describe the related instrument calibration. We also present analytical expression describing the ideal surface shape in the sagittal direction of a spheroid specified by the conjugate parameters of the optic's beamline application. The expression is useful when analyzing data obtained with such optics. The high efficiency of the developed measurement and data analysis procedures is demonstrated in results of measurements with a number of x-ray optics with sagittal radius of curvature between 56 mm and 480 mm. We also discuss potential areas of further improvement.

The research and development work on the Advanced Light Source (ALS) upgrade to a diffraction limited storage ring light source, ALS-U, has brought to focus the need for near-perfect x-ray optics, capable of delivering light to experiments without significant degradation of brightness and coherence. The desired surface quality is characterized with residual (after subtraction of an ideal shape) surface slope and height errors of

Using computer simulation methods, the geometry of the blocks that make up the Zylon polymer chain was established, the impossibility of the existence of a strictly linear polymer was shown, as well as the rotational barrier of the conformational transition of the benzobisoxazole block. computed. An assumption was made about the possibility of the transition of Zylon into various conformational states when creating high-strength fibers.

The studies were carried out with the aim of developing recommendations for the environmentally safe and effective use of organic fertilizers and increasing the productivity of grain-fallow crop rotation in the landscape agriculture in the Volga region. The effectiveness of organic fertilizers and biological products was studied on the experimental field of Ulyanovsk Research Institute of Agriculture. The crop rotation involved the 7-field grain-fallow with the following alternation of crops: pure fallow – winter wheat – spring wheat – peas – winter wheat – spring wheat – barley. The repetition was fourfold, the plot area was 100 m2. Meteorological conditions were favorable, the hydrothermal coefficient was 1.1–1.2. The experiment scheme included the following options: 1 – without fertilizers (control); 2 – N140P95K175 (equivalent to 25 t/ha of manure); 3 – manure, 25 t/ha; 4 – manure, 50 t/ha; 5 – sewage sludge in a dose equivalent to 25 t/ha of manure (OSV-1); 6 – sewage sludge in a dose equivalent to 50 t/ha of manure (OSV-2); 7 – green manure (equivalent to 25 t/ha of manure); 8 – straw, 5 t/ha + N115 (equivalent to 25 t/ha of manure); 9 – pre-sowing treatment of seeds with Rhizoagrin (background); 10 – background + N140P95K175 (equivalent to 25 t/ha of manure); 11 – background + manure, 25 t/ha; 12 – background + manure, 50 t/ha; 13 – background + OSV-1; 14 – background + OSV-2; 15 – background + siderat; 16 – background + straw, 5 t/ha + N115 (equivalent to 25 t/ha of manure). Studies have established that organic fertilizers and pre-sowing treatment of seeds with Rhizoagrin increase the accumulation of stubble-root residues, straw, nitrogen content and yield of spring wheat. The greatest input of nutrients into the soil with POC and high productivity of spring wheat were facilitated by the aftereffect of sewage sludge and manure in increased doses in combination with pre-sowing seed treatment with Rhizoagrin.

The study is intended for engineers designing hybrid systems. The analytic hierarchy method was used as the main tool of foresight. Nowadays, some experience in the design of optoelectronic systems is accumulated. However, in most cases, designers have to sort through all possible factors and parameters of devices. The involvement of experts for questionnaire survey will reduce the time range of designing. The results of the study show a high consistency of experts' opinions with the Kendall coefficient value of 0.782. Research materials in the future will allow planning experiments only with the most important factors. This will adjust the protocols for testing new optoelectronic systems and significantly reduce costs.

The article presents the results of studies on the influence of mineral, biomodified mineral fertilizers and BisolbiFit biologics on the balance of basic nutrients in soil under fallow crops. According to the results of correlation and regression analysis, the total removal (grain plus straw) of basic nutrients strongly depended on the level of grain yield. The increase in grain yield from 2.85 to 3.45 t/ha was accompanied by an increase in the total removal of nitrogen from 73.6 to 130.1 kg/ha, phosphorus – from 30.8 to 68.4 kg/ha, and potassium – from 41.6 to 74.0 kg/ha. The balance of basic nutrients depended not only on the grain yield, but also on the doses of fertilizers applied. For all variants of the experiment, the nitrogen balance was consistently reduced from –55.4 to –22.1 kg/ha as the yield increased from 2.85 to 3.45 t/ha. The phosphorus balance decreased from –52.4 to –30.8 kg/ha, and its negative balance increased from background 1 (zero) to background 3 (½ NH4NO3m). The balance of potassium, as well as the balance of nitrogen and phosphorus, was negative for all variants of the experiment, and decreased from –60.9 to –40.0 kg/ha.

This paper describes the results of the influence of Y-chromosome gene complex on pre- and postnatal growth of piglets of laboratory mini-pigs ICG SB RAS. Breeding group includes four genealogical lines of boars united by a successive father-son relationship. Three lines: MS2853, MS2987, and VTN300 inherited their Y chromosomes from boars of Vietnamese-South Asian breed. The fourth line (LNDR07) received Y chromosome from the Landrace boar. This study revealed that all three lines of boars carrying Asian Y chromosome did not differ in weight of newborn offspring, while the weight and, correspondingly, prenatal growth of newborns of boars carrying European Y chromosome were statistically significantly less. Thus, at this stage of research, there is reason to believe that the selection group of mini-pigs ICG SB RAS contains polymorphism in the complex of Y-chromosome genes involved in the control of prenatal growth process. An assumption was considered that growth retardation during prenatal and early postnatal periods, as well as an increased proportion of culled offspring of boars carrying European Y chromosome can be caused by poor compatibility of its gene complex with the allele pool inherited from the mini pigs ICG SB RAS from Vietnamese breed.

The study is intended for engineers designing technical systems. The analytic hierarchy process was used as the main tool of foresight. Nowadays, some experience in the design of technical systems is accumulated. However, in most cases, designers have to sort through all possible factors and parameters of devices. The involvement of experts will reduce the time range of research. The research results show a high Kendall’s coefficient of concordance 0.738. Research materials will allow planning experiments only with the most important factors. This will adjust the protocols for testing new technical systems and significantly reduce costs.

The results of investigation of the Tb0.2Gd0.8 single crystal forced magnetostriction are presented. Temperature dependences of magnetostriction have been measured from 4 to 300°K in applied magnetic fields up to 14 T. The giant field induced magnetostriction ~ 1.5•10-3 was discovered in the room temperature region in magnetic fields up to 14 T.

The magnetic, thermal expansion and magnetostriction measurements of Gd5-xTixSi2Ge2 (x=0, 0.05, 0.1) compounds have been carried out in wide range of fields and temperatures. It is found that Ti addition leads to the disappearance of the structural transformation, the change of the order of the phase transition and the decrease of the hysteresis. The large positive magnetostriction associated with the structural phase transition in Gd5Si2Ge2 changes to the small negative one associated with the magnetic phase transition in Gd4.9Ti0.1Si2Ge2. The linear dependence of volume magnetostriction on the square of magnetization obtained for all investigated compounds is explained using the thermodynamic theory.

A field and/or temperature hysteresis is more than just an interesting incomprehensibility that occurs in materials with a first-order magnetic transition. Indeed, the reversibility of the magnetocaloric effect (MCE), being essential for magnetic heat pumps, strongly depends on the width of the thermal hysteresis and, therefore, it is necessary to find solutions to minimize losses associated with thermal hysteresis in order to maximize the efficiency of magnetic cooling devices. In this work, the polymer matrix composites with MnAs powder as reinforcing material were obtained and its MCE by direct method was studied. The influence of composite preparation process on the MCE was investigated. It was found that the MCE of bulk MnAs shows strong temperature hysteresis caused by magnetostructural transition from paramagnetic to ferromagnetic state, which also leads to an irreversible MCE at cooling at first magnetization. The reversible MCE of bulk MnAs in field 12.5 kOe is ΔT ∼ 0.4 K. It was shown that Mn-based polymeric composite cured in aligned magnetic field presents a reinforcement of the MCE temperature hysteresis. Thus, the MCE value in aligned composite is less than the value of the MCE in the bulk MnAs. It was shown that the decreasing of linear size of MnAs grains in the polymeric composite leads to sharp decreasing of the MCE to value of 0.05 K. It was established that the optimal properties, such as giant MCE and low temperature hysteresis, are found for composite hardened under pressure of 10 kBar. In this composite an increase of reversible MCE (compared to the bulk MnAs) till to the value of ΔT ∼ 1.2K was observed.