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Studies have shown that alkali metal ultrafine water mist additives, such as NaCl and KCl, are highly effective in inhibiting explosion and combustion. In order to further study the heterogeneous catalytic inhibition of NaCl and KCl, the 100 most stable surfaces of NaCl and KCl were selected as the research objects. Three typical free radicals (H, O, OH) were selected as surface adsorbents with different coverages, and the most stable adsorption sites and configurations were located. The NEB method was used to calculate the minimum energy paths of H and O recombination on two surfaces. The molecular dynamics of two surface combustion radicals were simulated by the AIMD method. The results indicated that NaCl and KCl have strong adsorption capacity for the O free radical, while the two surfaces have weaker adsorption capacity for the H free radical; NaCl and KCl, two catalytic active substances, which can eliminate H radicals through the continuous adsorption of H free radical to generate H2, and H radical is inactivated. The catalytic fire-extinguishing effect by eliminating O free radical is weak. Molecular dynamics calculations on the two surfaces revealed that Cl atoms precipitate differently under the adsorption of various radicals. [ABSTRACT FROM AUTHOR]

40Ar/39Ar ages of phlogopite from kimberlite-hosted mantle xenoliths are commonly older than the kimberlite eruption, despite the fact that argon is supposed not to be retained by phlogopite at temperatures above hydrothermally-derived Ar closure temperatures (< 500 ° C). Combining Molecular Dynamics (MD) with Nudged Elastic Band (NEB) and Transition State Theory (TST), we investigate 40Ar − P V T (Pressure − Volume − Temperature) relationships in pristine, defect-free, phlogopite and show that 40Ar diffusivity is several orders of magnitude slower than existing estimates with a strong effect of pressure on diffusion rates and retention of 40Ar at mantle conditions. These results imply to fundamentally revise residence- and transit-time estimates based on Ar kinetics in phlogopite assuming simple diffusive relaxation during upwelling. When accounting for pressure, 40Ar retention trends in phlogopite predict substantially slower kimberlite ascent rates than documented by independent chronometers, indicating that 40Ar resetting during ascent in phlogopite does not result from simple decompression-driven diffusive relaxation. We argue that 40Ar remobilization probably involves secondary structural–textural modifications induced by reaction-driven recrystallization or rim overgrowth. These findings have far-reaching consequences in terms of argon isotopic mobility at mantle depths as well as for dating and tracing metasomatic events during crust − mantle interactions in the evolution of the subcontinental mantle. [ABSTRACT FROM AUTHOR]

By utilizing density functional theory, we investigated the adsorption of gas molecules (NO2 and SO2) on Germanene nanosheets (GeNS). Our findings reveal that GeNS displays notably high reactivity toward these gas molecules, with adsorption energies exceeding 1.00eV. The stability of GeNS at elevated temperatures and the thermodynamics of the adsorption process have been thoroughly investigated. These findings point toward promising applications for GeNS in the development of metal-free catalysts. Furthermore, the comprehensive examination of gas molecules inactivation pathways on GeNS enhances the understanding of its properties and opens avenues for exploring its potential as both catalysts and gas sensors. [ABSTRACT FROM AUTHOR]

International conservation approaches recognise architectural heritage as crucial in promoting sustainable development and enhancing human well-being. This has been highlighted by the recent New European Bauhaus (NEB) movement. As for the reuse of architectural heritage, this debate has led to the formulation of new guidelines that aim to maximise the tangible and intangible values of the assets from a long-term and circular economy perspective. In turning theory into operational practice, it is essential to reuse heritage structures while keeping these principles in mind and remaining within the boundaries of conservation objectives. To achieve this, evaluation tools that can aid in the decision-making process need to be identified. This research presents a novel model of indicators that can monitor and evaluate the quality of architectural heritage reuse projects, proposing a perspective that considers both the concept of well-being and the NEB principles. The proposed model is tested on Turin's IPIM (Provincial Institute for Childhood and Maternity). This structure has been transformed from an uncomfortable heritage into a cultural centre for contemporary art called Flashback Habitat. The case study tests the model's practical applicability and demonstrates its effectiveness in identifying the most challenging principles to apply in practice. [ABSTRACT FROM AUTHOR]

The study has as its original database the decarbonization process initiated in Mexico by the National Commission for the Efficient Use of Energy (CONUEE) as part of its “Savings Program of Electric Power in Buildings of the Federal Public Administration” (PAEIAPF) of 1999. The primary purpose of PAEIAPF was to reduce the levels of electric power consumption in Federal Government buildings. The program has operated for 20 years; however, its scope only reaches operational carbon. Since 90% of existing buildings will be in use by 2050, the Retrofit Models will be the base to determine solutions for a more resilient living environment that fortifies and extends the grid’s capacity and meets climate change mitigation targets. Secondly, significant socioeconomic and profound environmental impacts are not calculated explicitly in existing tools and are often referred to as “secondary” or Non-Energy Benefits (NEB). “The goal is to give them a measurement value to be considered in the decision-making calculus. It is assumed that soon; such factors will enter the general climate change economy, not unlike carbon in the past decade.” In this context, the proposed research aims to develop a value-based framework that will support a Building Stock Model and subsequent Retrofit Models, documented in a web-tool platform. The framework has three main steps: A) Building Stock Model: Mapping of selected buildings of the program PAEIAPF in a GIS system. Documentation of the baseline energy consumption and embodied CO2-eq of the existing building. B) Retrofit Models: Involving a Whole Life Cycle Assessment (WLCA) and Non-Energy Benefits (resilience coefficient, health, productivity). C) Web Tool Platform: Application and toolset that allows for consistent documentation, environmental impact evaluation of existing building stock, and solution design in identifying energy reduction concepts.

The study has as its original database the decarbonization process initiated in Mexico by the National Commission for the Efficient Use of Energy (CONUEE) as part of its "Savings Program of Electric Power in Buildings of the Federal Public Administration" (PAEIAPF) of 1999. The primary purpose of PAEIAPF was to reduce the levels of electric power consumption in Federal Government buildings. The program has operated for 20 years; however, its scope only reaches operational carbon. Since 90% of existing buildings will be in use by 2050, the Retrofit Models will be the base to determine solutions for a more resilient living environment that fortifies and extends the grid's capacity and meets climate change mitigation targets. Secondly, significant socioeconomic and profound environmental impacts are not calculated explicitly in existing tools and are often referred to as "secondary" or Non-Energy Benefits (NEB). "The goal is to give them a measurement value to be considered in the decision-making calculus. It is assumed that soon; such factors will enter the general climate change economy, not unlike carbon in the past decade." In this context, the proposed research aims to develop a value-based framework that will support a Building Stock Model and subsequent Retrofit Models, documented in a web-tool platform. The framework has three main steps: A) Building Stock Model: Mapping of selected buildings of the program PAEIAPF in a GIS system. Documentation of the baseline energy consumption and embodied CO2-eq of the existing building. B) Retrofit Models: Involving a Whole Life Cycle Assessment (WLCA) and Non-Energy Benefits (resilience coefficient, health, productivity). C) Web Tool Platform: Application and toolset that allows for consistent documentation, environmental impact evaluation of existing building stock, and solution design in identifying energy reduction concepts. [ABSTRACT FROM AUTHOR]

NEB mutation is associated with congenital nemalinemyopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c.19049_19050delCA (p.Thr6350Argfs*14) and two double maternal variants in cis c. [24871G>T;24871-10C>G] (p. [Val8291Phe;?]). They are evaluated as "likely pathogenic (LP)", "variant of uncertain of significance (VUS)", and "VUS", respectively. After further prediction, the c.24871G>T, c.24871-10C>G, and c.[24871G>T;24871-10C>G] were respectively genetically engineered into the three plasmids. Compared with their wild-type counterparts, the three plasmids all produced truncated transcripts, and also a significant proportion of the full-length transcripts, which allowed us to reclassify NEB c.24871G>T and c.24871-10C>G variants as LP. As far as we know, this is the first case carrying NEB allele-specific function of partial loss. This result helped the couple make informed reproductive choices and opt for assisted reproduction for future pregnancies. This study also increased awareness to the phenotype of prenatal nemaline myopathy and expanded the variant spectrum of NEB. [ABSTRACT FROM AUTHOR]

Diffusion is one among multiple reasons responsible for the micro-structural changes instigating substantial alterations in the macroscopic properties of materials. Simulating irradiation effects offers necessary insights into the production of radiation damages and their impact on different characteristics of nuclear fuels. Atomistic simulations were performed to obtain the migration energy and diffusion pre-factor of a single Xenon (Xe) substitutional as a function of percent atomic vacancies concentration in γ Uranium 10 wt% Molybdenum (γ U–10Mo). We observed a decrease and an increase in the migration energy and diffusion pre-factor respectively with an increase in the population of vacancies which proved that vacancy diffusion is a true mechanism of Xe in metals. Nudged elastic band (NEB) calculations were involved to obtain the migration energy of a self-interstitial Mo for intra- and inter-planar transitions. We observed the migration energy of Mo substantially higher than that of Xe which indicated that Xe is more mobile than Mo in bcc γ U–10Mo. [ABSTRACT FROM AUTHOR]

Abstract Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction between these disorders is therefore crucial when the diagnosis remains ambiguous after initial investigations. We sought to identify biomarkers facilitating this distinction and to investigate the pathophysiology of nemaline rod formation in these different disorders. Twenty-two muscle samples from patients affected by SLONM or iNM underwent quantitative histological analysis, laser capture microdissection for proteomic analysis of nemaline rod areas and rod-free areas, and transcriptomic analysis. In all iNM samples, nemaline rods were found in subsarcolemmal or central aggregates, whereas they were diffusely distributed within muscle fibers in most SLONM samples. In SLONM, muscle fibers harboring nemaline rods were smaller than those without rods. Necrotic fibers, increased endomysial connective tissue, and atrophic fibers filled with nemaline rods were more common in SLONM. Proteomic analysis detected differentially expressed proteins between nemaline rod areas and rod-free areas, as well as between SLONM and iNM. These differentially expressed proteins implicated immune, structural, metabolic, and cellular processes in disease pathophysiology. Notably, immunoglobulin overexpression with accumulation in nemaline rod areas was detected in SLONM. Transcriptomic analysis corroborated proteomic findings and further revealed substantial gene expression differences between SLONM and iNM. Overall, we identified unique pathological and molecular signatures associated with SLONM and iNM, suggesting distinct underlying pathophysiological mechanisms. These findings represent a step towards enhanced diagnostic tools and towards development of treatments for SLONM.

Abstract Background Single cell mRNA sequencing technologies have transformed our understanding of cellular heterogeneity and identity. For sensitive discovery or clinical marker estimation where high transcript capture per cell is needed only plate-based techniques currently offer sufficient resolution. Results Here, we present a performance evaluation of four different plate-based scRNA-seq protocols. Our evaluation is aimed towards applications taxing high gene detection sensitivity, reproducibility between samples, and minimum hands-on time, as is required, for example, in clinical use. We included two commercial kits, NEBNext® Single Cell/ Low Input RNA Library Prep Kit (NEB®), SMART-seq® HT kit (Takara®), and the non-commercial protocols Genome & Transcriptome sequencing (G&T) and SMART-seq3 (SS3). G&T delivered the highest detection of genes per single cell. SS3 presented the highest gene detection per single cell at the lowest price. Takara® kit presented similar high gene detection per single cell, and high reproducibility between samples, but at the absolute highest price. NEB® delivered a lower detection of genes but remains an alternative to more expensive commercial kits. Conclusion For the tested kits we found that ease-of-use came at higher prices. Takara can be selected for its ease-of-use to analyse a few samples, but we recommend the cheaper G&T-seq or SS3 for laboratories where a substantial sample flow can be expected.

Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments. Most patients have congenital onset characterized by hypotonia, respiratory issues, and abnormal deep tendon reflexes, which is a phenotype encountered in a wide spectrum of neuromuscular disorders. Whole-exome sequencing (WES) contributes to a faster diagnosis and facilitates genetic counseling. Methods: Here, we report on two Arab patients from consanguineous families diagnosed with nemaline myopathy of different phenotype spectrum severities. Results: Clinical assessment and particular prenatal history raised suspicion of neuromuscular disease. WES identified homozygous variants in NEB and KLHL40. Muscle biopsy and muscle magnetic resonance imaging studies linked the genetic testing results to the clinical phenotype. The novel variant in the NEB gene resulted in a classical type 2 nemaline myopathy, while the KLHL40 gene variant led to a severe phenotype of nemaline myopathy, type 8. Both patients were identified as having other gene variants with uncertain roles in their complex phenotypes. Conclusions: This study enriches the phenotypic spectrum of nemaline myopathy caused by NEB and KLHL40 variants and highlights the importance of detailed prenatal, neonatal, and infancy assessments of muscular weakness associated with complex systemic features. Variants of uncertain significance in genes associated with nemaline myopathy may be correlated with the phenotype. Early, multidisciplinar/ intervention can improve the outcome in patients with mild forms of nemaline myopathies. WES is essential for clarifying complex clinical phenotypes encountered in patients from consanguineous families. Targeted carrier screening of extended family members would enable accurate genetic counseling and potential genetic prevention. [ABSTRACT FROM AUTHOR]

Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments. Most patients have congenital onset characterized by hypotonia, respiratory issues, and abnormal deep tendon reflexes, which is a phenotype encountered in a wide spectrum of neuromuscular disorders. Whole-exome sequencing (WES) contributes to a faster diagnosis and facilitates genetic counseling.Methods: Here, we report on two Arab patients from consanguineous families diagnosed with nemaline myopathy of different phenotype spectrum severities.Results: Clinical assessment and particular prenatal history raised suspicion of neuromuscular disease. WES identified homozygous variants in NEB and KLHL40. Muscle biopsy and muscle magnetic resonance imaging studies linked the genetic testing results to the clinical phenotype. The novel variant in the NEB gene resulted in a classical type 2 nemaline myopathy, while the KLHL40 gene variant led to a severe phenotype of nemaline myopathy, type 8. Both patients were identified as having other gene variants with uncertain roles in their complex phenotypes.Conclusions: This study enriches the phenotypic spectrum of nemaline myopathy caused by NEB and KLHL40 variants and highlights the importance of detailed prenatal, neonatal, and infancy assessments of muscular weakness associated with complex systemic features. Variants of uncertain significance in genes associated with nemaline myopathy may be correlated with the phenotype. Early, multidisciplinary intervention can improve the outcome in patients with mild forms of nemaline myopathies. WES is essential for clarifying complex clinical phenotypes encountered in patients from consanguineous families. Targeted carrier screening of extended family members would enable accurate genetic counseling and potential genetic prevention.

Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction between these disorders is therefore crucial when the diagnosis remains ambiguous after initial investigations. We sought to identify biomarkers facilitating this distinction and to investigate the pathophysiology of nemaline rod formation in these different disorders. Twenty-two muscle samples from patients affected by SLONM or iNM underwent quantitative histological analysis, laser capture microdissection for proteomic analysis of nemaline rod areas and rod-free areas, and transcriptomic analysis. In all iNM samples, nemaline rods were found in subsarcolemmal or central aggregates, whereas they were diffusely distributed within muscle fibers in most SLONM samples. In SLONM, muscle fibers harboring nemaline rods were smaller than those without rods. Necrotic fibers, increased endomysial connective tissue, and atrophic fibers filled with nemaline rods were more common in SLONM. Proteomic analysis detected differentially expressed proteins between nemaline rod areas and rod-free areas, as well as between SLONM and iNM. These differentially expressed proteins implicated immune, structural, metabolic, and cellular processes in disease pathophysiology. Notably, immunoglobulin overexpression with accumulation in nemaline rod areas was detected in SLONM. Transcriptomic analysis corroborated proteomic findings and further revealed substantial gene expression differences between SLONM and iNM. Overall, we identified unique pathological and molecular signatures associated with SLONM and iNM, suggesting distinct underlying pathophysiological mechanisms. These findings represent a step towards enhanced diagnostic tools and towards development of treatments for SLONM. [ABSTRACT FROM AUTHOR]

Background: Single cell mRNA sequencing technologies have transformed our understanding of cellular heterogeneity and identity. For sensitive discovery or clinical marker estimation where high transcript capture per cell is needed only plate-based techniques currently offer sufficient resolution. Results: Here, we present a performance evaluation of four different plate-based scRNA-seq protocols. Our evaluation is aimed towards applications taxing high gene detection sensitivity, reproducibility between samples, and minimum hands-on time, as is required, for example, in clinical use. We included two commercial kits, NEBNext® Single Cell/ Low Input RNA Library Prep Kit (NEB®), SMART-seq® HT kit (Takara®), and the non-commercial protocols Genome & Transcriptome sequencing (G&T) and SMART-seq3 (SS3). G&T delivered the highest detection of genes per single cell. SS3 presented the highest gene detection per single cell at the lowest price. Takara® kit presented similar high gene detection per single cell, and high reproducibility between samples, but at the absolute highest price. NEB® delivered a lower detection of genes but remains an alternative to more expensive commercial kits. Conclusion: For the tested kits we found that ease-of-use came at higher prices. Takara can be selected for its ease-of-use to analyse a few samples, but we recommend the cheaper G&T-seq or SS3 for laboratories where a substantial sample flow can be expected. [ABSTRACT FROM AUTHOR]

Context: The establishment of pregnancy in cows requires uterine activity regulation of the main Hippo signalling effector yes-associated protein 1 (YAP). It remains unknown (1) how YAP activity at the corpus luteum (CL) correlates with early pregnancy-related events in ruminants; and (2) if YAP activity in the uterus and CL can be affected by metabolic disorders that may lead to pregnancy failure in ruminants. Aims and methods: To determine the effect of early pregnancy on total and phospho-YAP expression and its transcriptional activity in the CL, we compared non-pregnant vs pregnant ewes. To understand the YAP activity dysregulation with disorders that may result in pregnancy loss, we induced negative energy balance in pregnant ewes. Key results and conclusions: Our main results indicate that early pregnancy alters the expression and activity patterns of YAP in the ovine CL but not in the endometrium. In addition, while our NEB-induced model fails to alter YAP activity at the endometrium level, we found that fasting during the first but not second week of pregnancy affects YAP activity in the CL of pregnant ewes. Implications: The data presented herein provide considerable insight into the activity of a signalling pathway that may be a key player in pregnancy recognition and establishment in ewes. This is the first report in ewes showing that early pregnancy alters the expression and activity patterns of the Hippo signalling pathway effector YAP in the corpus luteum but not in the endometrium. Our data provide considerable insight into the expression and activity of a novel signalling pathway underlying pregnancy recognition and establishment in ewes. We demonstrate the effect of early pregnancy on the YAP expression and activity in endometrium and corpus luteum subjected or not to induced negative energy balance. [ABSTRACT FROM AUTHOR]

Due to the scarcity of studies linking the variability of rainfall and population growth in the capital cities of Northeastern Brazil (NEB), the purpose of this study is to evaluate the variability and multiscale interaction (annual and seasonal), and in addition, to detect their trends and the impact of urban growth. For this, monthly rainfall data between 1960 and 2020 were used. In addition, the detection of rainfall trends on annual and seasonal scales was performed using the Mann–Kendall (MK) test and compared with the phases of El Niño-Southern Oscillation (ENSO) and Pacific Decadal Oscillation (PDO). The relationship between population growth data and rainfall data for different decades was established. Results indicate that the variability of multiscale urban rainfall is directly associated with the ENSO and PDO phases, followed by the performance of rain-producing meteorological systems in the NEB. In addition, the anthropic influence is shown in the relational pattern between population growth and the variability of decennial rainfall in the capitals of the NEB. However, no capital showed a significant trend of increasing annual rainfall (as in the case of Aracaju, Maceió, and Salvador). The observed population increase in the last decades in the capitals of the NEB and the notable decreasing trend of rainfall could compromise the region's water security. Moreover, if there is no strategic planning about water bodies, these changes in the rainfall pattern could be compromising. [ABSTRACT FROM AUTHOR]

Simple Summary: The objectives of this study were to (i) investigate the changes in muscle tissue reserves in high producing dairy cows before and after calving, (ii) identify factors associated with these changes, and (iii) describe their possible associations with cattle reproductive performance. Data were collected from 455 cows on three different UK farms. Holstein cows mobilise both fat and muscle tissue reserves before and after calving. Significant differences in the amount of muscle mobilised were identified between farms; this could have been associated with pre calving diets. Higher genetic merit for milk yield was associated with lower muscle tissue reserves. An increased time to first service was described for those animals that mobilised more muscle tissue. Excessive periparturient fat mobilisation and its association with dairy cattle health and fertility is well documented; however, the role of muscle mobilisation has not been studied extensively. The objectives of this study were to (i) investigate the changes in the thickness of the longissimus dorsi muscle in high producing dairy cows during the periparturient period, (ii) identify factors associated with these changes, and (iii) describe their possible associations with cattle reproductive performance. Data were collected from a total of 500 lactations from 455 cows on three different UK farms. Muscle thickness (MT) (Longissimus dorsi) and back fat thickness (BFT) measurements were collected at three different time-points during the periparturient period using ultrasonography. Body condition score (BCS) was also assessed at the same time-points and blood samples were collected for the measurement of non-esterified fatty acids. Farm fertility records were used and genomically estimated breeding values were also available. Associations between variables were analysed with the use of multivariable linear and logistic regression models; Cox proportional hazard analysis was used for fertility outcomes. Muscle thickness decreased pre- to post-calving on all three farms, though they were notable between farm differences. Those animals with a lower BCS pre-calving had a higher MT loss; significant fat mobilisation occurred between the calving and early lactation period. Muscle thickness changes and fat mobilisation were not associated in this study. An increased time to first service was described for those animals that mobilised more muscle tissue. Our study advances the understanding of periparturient muscle tissue mobilisation in dairy cattle and highlights its potential associations with cattle fertility. [ABSTRACT FROM AUTHOR]

Summary: Porous silicon is a promising anode material in Na‐ion batteries, however, there are still no theoretical studies describing the Na storage mechanism within this material. In this work, we present a density functional theory study on the effects of interstitial and substitutional Na atoms on the electronic and structural properties of hydrogen‐passivated porous silicon (pSiH). The results show that the substitutional Na reduces the band gap, while the interstitial Na induces metallic properties on the pSiH. The diffusion analysis by the nudged elastic band scheme, reveals that the interstitial Na atoms migrate from the silicon lattice to the pore surface, while the pSiH energy barrier decreases by 20.42% relative to the bulk silicon energy barrier value. Finally, the hydrogenated surface proves to be beneficial for both Na adsorption and diffusion. These results could be important for understanding the storage and diffusion mechanism of Na on pSiH. [ABSTRACT FROM AUTHOR]

Dismutation reaction of superoxide radical catalyzed by EUK-134 has lower activation energy than non-catalytic reaction, and therefore, EUK-134 catalyzes dismutation reaction of superoxide radical. For non-catalytic dismutation reaction of hydrogen peroxide, there are three possible reaction paths, among which MEP3 has the lowest activation energy, and therefore, is thought to be the most probable reaction path. Dismutation reaction of hydrogen peroxide catalyzed by EUK-134 occurs in two successive steps and has lower energy barrier than non-catalytic dismutation reaction, and therefore, EUK-134 is thought to catalyze the dismutation reaction of hydrogen peroxide. HOMO (highest occupied molecular orbital) and LUMO (lowest unoccupied molecular orbital) and ESP-fitted charge analysis of EUK-134 indicate that Mn atom plays an electron acceptor and donor for dismutation reactions of superoxide radical and hydrogen peroxide catalyzed by EUK-134, respectively. [ABSTRACT FROM AUTHOR]

Abstract In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.

Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases. Nebulin is a giant protein which is formed integrally with the sarcomeric thin filament. This complex gene is under extensive alternative splicing giving rise to multiple isoforms. In this study, we report a 6-year-old boy presenting with general muscular weaknesses. Identification of rod-shaped structures in the patient' biopsy raised doubt about the presence of a nemaline myopathy. Next-generation sequencing was used to identify a causative mutation for the patient syndrome. A homozygous deep intronic substitution was found in the intron 144 of the NEB. The variant was predicted by in silico tools to create a new donor splice site. Molecular analysis has shown that the mutation could alter splicing events of the nebulin gene leading to a significant decrease of isoforms level. This change in the expression level of nebulin could give rise to functional consequences in the sarcomere. These results are consistent with the phenotypes observed in the patient. Such a discovery of variants in this gene will allow a better understanding of the involvement of nebulin in neuromuscular diseases and help find new treatments for the nemaline myopathy.

Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases. Nebulin is a giant protein which is formed integrally with the sarcomeric thin filament. This complex gene is under extensive alternative splicing giving rise to multiple isoforms. In this study, we report a 6-year-old boy presenting with general muscular weaknesses. Identification of rod-shaped structures in the patient' biopsy raised doubt about the presence of a nemaline myopathy. Next-generation sequencing was used to identify a causative mutation for the patient syndrome. A homozygous deep intronic substitution was found in the intron 144 of the NEB. The variant was predicted by in silico tools to create a new donor splice site. Molecular analysis has shown that the mutation could alter splicing events of the nebulin gene leading to a significant decrease of isoforms level. This change in the expression level of nebulin could give rise to functional consequences in the sarcomere. These results are consistent with the phenotypes observed in the patient. Such a discovery of variants in this gene will allow a better understanding of the involvement of nebulin in neuromuscular diseases and help find new treatments for the nemaline myopathy. [ABSTRACT FROM AUTHOR]

Summary: Pulmonary neuroendocrine cells (PNECs) have crucial roles in airway physiology and immunity by producing bioactive amines and neuropeptides (NPs). A variety of human diseases exhibit PNEC hyperplasia. Given accumulated evidence that PNECs represent a heterogenous population of cells, we investigate how PNECs differ, whether the heterogeneity is similarly present in mouse and human cells, and whether specific disease involves discrete PNECs. Herein, we identify three distinct types of PNECs in human and mouse airways based on single and double positivity for TUBB3 and the established NP markers. We show that the three PNEC types exhibit significant differences in NP expression, homeostatic turnover, and response to injury and disease. We provide evidence that these differences parallel their distinct cell of origin from basal stem cells (BSCs) or other airway epithelial progenitors.

• We report a novel splice site mutation in NEB , leading to a severe form of foetal nemaline myopathy with antenatal/foetal developmental disorder and resulting in arthrogryposis/FADS. • NGS disclosed a homozygous mutation in NEB intron122 [chr2:g.152,417,623C> A GRCh37.p11 | c.19,102–1G> T NM_001164508]. • Light microscopic examination revealed immature skeletal muscles (myotubes) with variability of fibre caliber and nuclear size, fibrosis and fatty tissue within the epi- and perimysium were absent. • Ultrastructural analysis including large-scale electron microscopy revealed immature sarcomere structures and "mini"-nemaline bodies within myotubes. • Hence, ultrastructural analysis of foetal skeletal muscle can provide helpful insights and drive further genetic analysis. Nemaline myopathies are a clinically and genetically heterogeneous group of congenital myopathies, mainly characterized by muscle weakness, hypotonia and respiratory insufficiency. Here, we report a male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation. We describe severe complex dysmorphic facial and musculoskeletal features by post mortem fetal examination confirming the prenatal diagnosis. Histomorphological and ultrastructural studies of skeletal muscle reveal mini-rods in myotubes caused by a novel homozygous splice-site mutation in NEB (NM_001164508, chr2:g.152,417,623C> A GRCh37.p11 | c.19,102–1G> T ENST00000397345.3). No rods were seen in the myocardium. We discuss the relevance of this mutation in the context of nemaline myopathies associated with early developmental musculoskeletal disorders. [ABSTRACT FROM AUTHOR]

An autoencoder that automatically generates an initial guess for the minimum energy pathway (MEP) calculations has been designed. Specifically, our autoencoder takes in the trajectories of molecular dynamics simulations as its input and facilitates the generation of feasible molecular coordinates. Two molecules (acetonitrile and alanine dipeptide) were tested using the nudged elastic band calculations and the results provided improvements over linear interpolation and image dependent pair potential methods in terms of the number of SCF iterations, demonstrating the utility of using an autoencoder type of an approach for MEP calculations. [ABSTRACT FROM AUTHOR]

In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient. [ABSTRACT FROM AUTHOR]

Capturing twin nucleation in crystal plasticity is a long-standing problem due to its localisation and site sensitivity. Quantifying local energy to induce a stable twin is a unique challenge and profoundly informs the microstructural evolution. We performed nudged elastic band atomistic calculations identifying minimum energy path and activation energy for { 10 1 ¯ 2 } twin nucleation. This enables gauging the transformations from an initial state without twins to a final state with twins under various boundary conditions. The role of stress and atomic structure in twinning can be understood by the minimum energy path, energy barrier and relaxed energy. [ABSTRACT FROM AUTHOR]

The impact of boron doping on MgH 2 bonding mechanism, hydrogen diffusion and desorption was calculated using density functional theory (DFT). Atomic interactions in doped and non-doped system and its influence on hydrogen and vacancy diffusion were studied in bulk hydride. Slab calculations were performed to study hydrogen desorption energies from (110) boron doped surface and its dependence on the surface configuration and depth position. To study kinetics of hydrogen diffusion in boron vicinity and hydrogen molecule desorption activation energies from boron doped and non-doped (110) MgH 2 surface Nudged Elastic Band (NEB) method was used. Results showed that boron forms stronger, covalent bonds with hydrogen causing the destabilization in its first and second coordination. This leads to lower hydrogen desorption energies and improved hydrogen diffusion, while the impact on the energy barriers for H 2 desorption from hydride (110) surface is less pronounced. • Boron doping of MgH 2 causes weakening of H–H interactions. • Introduction of B leads to MgH 2 crystal lattice destabilization. • Hydrogen diffusion is improved in boron vicinity in Mg 15 BH 32 comparing to MgH 2. • MgH 2 doping with B lowers the hydrogen desorption energy from saturated surface. [ABSTRACT FROM AUTHOR]

In this study, we have investigated the effect of the grain boundary (GB) on the diffusion of a Phosphorus (P) atom in alpha-Fe using molecular dynamics simulations. A Fe-P mixed dumbbell is created in the six symmetric tilt grain boundary (STGB) models. The dumbbells are allowed to migrate at different temperatures from 400 to 1,000 K, with starting positions between 5 to 10Å away from the GB core. The trajectories and mean square displacements (MSD) have been recorded to analyze the diffusion details. The Nudged Elastic Band (NEB) method has been used to study the energy barrier at different positions around the GBs. Our simulation results demonstrate that the GB structure affects the diffusion mechanisms of Fe-P dumbbell. The two low Σ favored GBs display significantly weak trapping effect, which is consistent with the formation energy distribution. The reduction in the migration barrier has been observed due to the decrease of distance from the GB center. Furthermore, the barriers of migration toward the GB are lower than the barriers of migration away from the GB. As evident by NEB calculation, absorption sink effect of GB has been observed. This effect saturates as the distance reaches 8Å or more. Our simulation results provide an insight into the GB trapping effect in alpha-Fe.

The thermally activated pyramidal-to-basal (PB) transition of 〈 c + a 〉 dislocations, transforming glissile pyramidal dissociated core structures into sessile basal dissociated ones, lies at the origin of low ductility in pure magnesium (Mg). Solute-accelerated cross-slip and double cross-slip of pyramidal 〈 c + a 〉 dislocations have recently been proposed as a mechanism that can circumvent the deleterious effects of the PB transition by enabling rapid dislocation multiplication and isolating PB-transformed sessile segments. Here, the theory for solute-accelerated cross-slip is revisited with an explicit atomistic derivation, is extended to include multiple very dilute solute concentrations, and various aspects of the theory are demonstrated computationally. DFT inputs to the theory for a wide range of new alloying elements are presented. The theory is validated by comparing predicted ductility to literature experiments for a range of alloys. The theory is then applied to predict composition ranges for ductility in rare-earth free ternary and quaternary dilute alloys. The wide range of new alloys predicted to be ductile can serve as a guide to experimental development of new ductile Mg alloys. Image 1 [ABSTRACT FROM AUTHOR]

Secretoglobins (SCGBs) are cytokine-like small molecular weight secreted proteins with largely unknown biological functions. Three SCGB proteins, SCGB1A1, SCGB3A1, and SCGB3A2, are predominantly expressed in lung airways. To gain insight into the possible functional relationships among the SCGBs, their protein and mRNA expression patterns were examined in lungs during gestation and in adult mice, using Scgb3a1- null and Scgb3a2 -null mice as negative controls, by immunohistochemistry and by qRT-PCR analysis, respectively. The three SCGBs exhibited unique spatiotemporal expression patterns during embryogenesis. The lack of Scgb3a1 or Scgb3a2 did not affect expression of the other Scgb genes as determined by mRNA measurements. Moreover, the lack of Scgb3a1 or Scgb3a2 did not affect development of the pulmonary neuroepithelial bodies during embryogenesis, while the lack of Scgb3a2 may have resulted in slightly fewer ciliated cells than in the wild-type. These results suggest that SCGB1A1, SCGB3A1, and SCGB3A2 each may possess its own unique biological function. [ABSTRACT FROM AUTHOR]

The East Sikhote Alin volcanic belt (~1500 km long) is commonly regarded as a tectonomagmatic structure formed in the Late Cretaceous in a subduction environment, which was followed by the destruction of the oceanic slab and active asthenospheric diapirism in the Cenozoic. However, the nature of the lateral zonality of the Late Cretaceous volcanic complexes, which is distinctly expressed in a number of geological and metallogenic parameters, remains poorly studied. In this paper, this issue is considered on the example of the poorly studied Late Cretaceous Bolbinsk Formation of northern Sikhote Alin. Analysis of the published geological information in combination with geochronological, trace-element, and isotopic data indicates that the structure was developed in a non-subduction geodynamic setting. The predominance of magnesian (Mg# = 26–40) adakites (La/Yb = 19–34) and high-niobium basalts and low lead (Δ8/4Pb = 30–46) and high neodymium (143Nd/144Nd 0.51279–0.51281) isotopic ratios suggest an elevated permeability of the subducted slab and injection of a "hot" oceanic asthenosphere into the mantle wedge. Consequently, the lateral geological, geochemical, and metallogenic zonality of the East Sikhote Alin volcanogenic belt was formed at the early stages of its evolution as a result of the specific configuration of the Late Cretaceous continental margin. [ABSTRACT FROM AUTHOR]

The trajectory along the diffusion path is determined by structure repetitions, or images, within the Nudged Elastic Band methodology. In the literature using a single image, among the initial and final position of the vacancy site, is well accepted to determine the transition state, and hence, the enthalpy of migration to model diffusion within aluminium. Scaling the number of evolving images, in the Nudged Elastic Band methodology, is performed for the first time to our knowledge, to determine transition states for the diffusion of magnesium in face centred cubic aluminium. Since a single image locates the transition state away from the expected middle place, along the diffusion path. With an odd number of evolving images is possible to clearly place the saddle point exactly halfway, in between extremal positions, as the enthalpy of migration converges its magnitude. Adjusting the number of evolving images consolidates then a scheme to accurately determine transition states, within the methodology to compute macroscopic diffusion factors, and the results also demonstrate that single image calculations provide a coarse result for diffusion parameters, meanwhile, the converged number of images locates the Arrhenius plot in good agreement with previous ab-initio calculations and experimental measurements. [Display omitted] [ABSTRACT FROM AUTHOR]

This work is carried out to investigate the structural, electronic and transport properties of InTeCl in bulk and slab periodicities using Density Functional Theory (DFT). The analysis of the structural parameters including bond length, lattice constants and bond angles of the materials was carried out in detail. The band gap of the material for the bulk and monolayer was found as 1.57 eV and 1.33 eV respectively. The direct to indirect transition of band gap is observed when the material is downscaled from bulk to the slab. Transport properties of the materials were computed using DFT based tight-binding method combined with non-equilibrium green functions (NEGF) formalism. The nano device Au–InTeCl–Au with fixed length of the central region was simulated to study IV-characteristics, transmission spectra and Hamiltonian states. Moreover, to check the diffusion properties of the material Nudged Elastic Band (NEB) calculations were carried out which revealed minimum transition barrier for bulk, slab and bilayer as 1.32 eV, 1.67 eV and 1.70 eV respectively. The current-voltage (IV) characteristic curves and transmission spectra for the materials were also studied to investigate the conductivity trend. [ABSTRACT FROM AUTHOR]

Calcium propionate is a safe and reliable food and feed additive. It can be metabolized and absorbed by humans and animals as a precursor for glucose synthesis. In addition, calcium propionate provides essential calcium to mammals. In the perinatal period of dairy cows, many cows cannot adjust to the tremendous metabolic, endocrine, and physiological changes, resulting in ketosis and fatty liver due to a negative energy balance (NEB) or milk fever induced by hypocalcemia. On hot weather days, cow feed (TMR or silage) is susceptible to mildew, which produces mycotoxins. These two issues are closely related to dairy health and performance. Perinatal period metabolic disease significantly reduces cow production and increases the elimination rate because it causes major glucose and calcium deficiencies. Feeding a diet contaminated with mycotoxin leads to rumen metabolic disorders, a reduced reproductive rate (increased abortion rate), an increased number of milk somatic cells, and decreased milk production, as well as an increased occurrence of mastitis and hoof disease. Propionic acid is the primary gluconeogenic precursor in dairy cows and one of the safest mold inhibitors. Therefore, calcium propionate, which can be hydrolyzed into propionic acid and Ca2+ in the rumen, may be a good feed additive for alleviating NEB and milk fever in the perinatal period of dairy cows. It can also be used to inhibit TMR or silage deterioration in hot weather and regulate rumen development in calves. This paper reviews the application of calcium propionate in dairy cows.

Graphical abstract Highlights • DFT results suggest the dimethyl sulfoxide (MDSO) reduction on silicene as viable. • Toxic DMSO can be reduced to dimethyl sulfide (DMS), a harmless substance. • Nudged elastic band (NEB) results show a reaction energy barrier of 0.2 eV. • This reaction energy is 0.3 eV lower than energy needed for the DMSO desorption. • Also a controlled silicene oxidation can take place during the reduction process. Abstract We have studied the minimum energy pathway for the dimethyl sulfoxide reduction on silicene substrates. Starting with a configuration in which the molecule and the substrate are not interacting, the dimethyl sulfide molecule is physisorbed on the silicene as a first step, until it is finally reduced with the formation of silicene oxide units. As the reaction proceeds, the system gains energy, favoring the reduction of the molecule. The energy barrier for the reaction to proceed forward is 0.20 eV, which is 0.30 eV lower than the energy barrier for desorption. At the maximum coverage of ¼ monolayer, silicene oxide lines are formed. These results pave the way to use silicene as a substrate to reduce dimethyl sulfoxide (a molecule with low dose toxicity) to dimethyl sulfide, an important compound in the global ecosystem cycle. In the final state, the DMS molecule is physisorbed on silicene oxide. Therefore, this reaction is also a viable and efficient mechanism for oxidation of silicene. [ABSTRACT FROM AUTHOR]

TiB exhibits a hexagonal cross-section with growth faults on (1 0 0) planes and contains B27-B f bicrystals. The hexagonal cross-section is presently explained by surface free energy minimization principle. We show that interfacial energy calculations explain the longer (1 0 0) facet compared to (1 0 1) type facets whereas free surface energy arguments do not provide the true picture. No quantitative explanation of stacking faults and B27-B f interfaces in TiB exists. We show that the low formation energy of stacking faults and B27-B f interfaces explain their abundance. The low energy barrier for B f formation is shown to be responsible for their presence in TiB. [ABSTRACT FROM AUTHOR]

Our previous work experimentally demonstrated the enhancement of electrochemical hydrogen insertion into palladium by modifying the chemical composition of the cathode surface with Pb, Pt and Bi, referred to as surface promoters. The experiment demonstrated that an optimal combination of the surface promoters led to an increase in hydrogen fugacity of more than three orders of magnitude, while maintaining the same current density. This manuscript discusses the application of Density Functional Theory (DFT) to elucidate the thermodynamics and kinetics of observed enhancement of electrochemical hydrogen insertion into palladium. We present theoretical simulations that: (1) establish the elevation of hydrogen’s chemical potential on Pb and Bi surfaces to enhance hydrogen insertion, (2) confirm the increase of a Tafel activation barrier that results in a decrease of the reaction rate at the given hydrogen overpotential, and (3) explain why the surface promoter’s coverage needs to be non-uniform, namely to allow hydrogen insertion into palladium bulk while simultaneously locking hydrogen below the surface (the corking effect). The discussed DFT-based method can be used for efficient scanning of different material configurations to design a highly effective hydrogen storage system. [ABSTRACT FROM AUTHOR]

This study focuses on the diffusion of atomic and molecular oxygen through the uranium mono-nitride UN (0 0 1) surface. The adsorption of oxygen at the most favorable sites has been checked on different surface states namely: clean surface and surfaces containing defects such as inclusion atoms. Inclusions atoms are positioned at a uranium U atom vacancy or at a nitrogen N atom vacancy location of the UN (0 0 1) surface. Neptunium, plutonium, protactinium, silver and neodymium which are the most probable nuclear reactions (n, U) products have been selected as U atom substitute. Some light elements such as carbon, chromium and silicon were used to replace an N atom. The first principle calculation, based on Density Functional Theory (DFT) was used, taking into account the Generalized Gradient Approximation (GGA) and the Projector-Augmented Wave (PAW) to describe the exchange-correlation functional. The purpose of this work is to verify the oxygen adsorption energy variations performed across all the studied surfaces. The most favorable sites of UN (0 0 1) clean and defective surfaces to oxygen O atom diffusion were preliminary identified. In the second step, atomic dynamical Potential Energy Surface (PES) was used to study the interaction between O atom and UN (0 0 1) surfaces at these sites. Finally, Nudged Elastic Band (NEB) method was used in order to investigate the migration of O atom through the UN (0 0 1) surfaces. The results show that at the bridge site, the adsorption and incorporation energies of oxygen atom on and in the UN (0 0 1) surfaces respectively, do not substantially vary with the type and position of the studied impurities. But, at the N vacancy site, the adsorption energy of the O atom decreases practically when UN (0 0 1) surfaces contain inclusion atoms compared to the clean surface case. Furthermore, the NEB calculations show discrepancies for the Minimum Energy Path (MEP) during the migration of the O atom at the bridge site through the studied UN (0 0 1) surfaces and depending on the type and position of the added impurities. Among the studied MEPs, protactinium is found to be the most suitable barrier to the diffusion of oxygen through the UN surface as an inclusion on UN (0 0 1). [ABSTRACT FROM AUTHOR]

Врожденные миопатии составляют гетерогенную группу генетических мышечных патологий, вызванных структурной аномалией скелетной мышцы. Немалиновая миопатия принадлежит к обширной группе врожденных миопатий с белковыми включениями и характеризуется присутствием небольших включений в форме нитей, названных “rod”(англ., «стержень, прутик»). Речь идет о генетически обособленной группе, в которой идентифицированные основные ответственные гены кодируют белки тонких филаментов саркомеров. При этом сегодня гены определены лишь для 50 % известных случаев (ACTA 1, NEB, TPM2, TPM3, TNNT1, CFL2 и KBTBD13). Последнее обстоятельство требует продолжения научных поисков в этой мало раскрытой области.

O presente artigo mostra metodologias capazes de realizar previsões de velocidade do vento com boa acurácia as quais poderão ser aplicadas no setor de geração eólica. Para isso, dados de velocidade dos ventos das regiões de Fortaleza, Parnaíba e São Luís localizadas no Nordeste Brasileiro (NEB) foram aplicados aos modelos de previsão de séries temporais - Auto Regressivo Integrado de Médias Móveis (ARIMA), Holt-Winters (HW) e Redes Neurais Artificiais (RNA), e comparados entre si com a finalidade de identificar o de melhor performance. O período compreende janeiro de 2010 até dezembro 2014. O modelo RNA apresentou os melhores valores das medidas de acurácia, principalmente o erro percentual entre as séries observadas e simuladas cujos valores foram de 8,74% (Fortaleza) e 10,50% (São Luís). A localidade de Parnaíba os valores dos erros foram menores para o modelo ARIMA, com erro percentual de 9,70%. As séries temporais previstas pelos modelos conseguem representar características importantes, particularmente, as menores intensidades da média mensal da velocidade do vento (período chuvoso), seguido das maiores intensidades da média mensal da velocidade do vento (período seco).