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In this research, we utilized density functional theory (DFT) computations to perform ab initio molecular dynamics simulations and static calculations on graphene, hexagonal boron nitride, and their heterostructures, subjecting them to strains, perturbations, twist angles, and defects. The gathered energy, force, and virial information informed the creation of a training set comprising 1253 structures. Employing the Neural Evolutionary Potential framework integrated into Graphics Processing Units Molecular Dynamics, we fitted a machine learning potential (MLP) that closely mirrored the DFT potential energy surface. Rigorous validation of lattice constants and phonon dispersion relations confirmed the precision and dependability of the MLP, establishing a solid foundation for subsequent thermal transport investigations. A further analysis of the impact of twist angles uncovered a significant reduction in thermal conductivity, particularly notable in heterostructures with a decline exceeding 35%. The reduction in thermal conductivity primarily stems from the twist angle-induced softening of phonon modes and the accompanying increase in phonon scattering rates, which intensifies anharmonic interactions among phonons. Our study underscores the efficacy of the MLP in delineating the thermal transport attributes of two-dimensional materials and their heterostructures, while also elucidating the micro-mechanisms behind the influence of the twist angle on thermal conductivity, offering fresh perspectives for the design of advanced thermal management materials. [ABSTRACT FROM AUTHOR]

The structural, elastic, electronic and optical properties of Ce 1− x Zr x O 2 (x = 0, 0.25, 0.5, 0.75, 1) fluorite type oxides are studied by researchers using the method of density functional theory (DFT) + U method. The calculated equilibrium lattice parameter, cell volume, elastic and optical properties for CeO 2 and ZrO 2 are all in good agreement with the available experimental data and other theoretical results. It is found that Ce substituted by Zr leads to the formation of the pseudo-cubic fluorite-type structure. With doping concentration × increasing, the lattice parameter, cell volume and the bond length of d Ce − O and d Zr − O decrease linearly. It is interesting to find that the hardness of materials increase with Zr concentration increasing. For Ce 0.75 Zr 0.25 O 2 , we also find that its ductility is good. Meanwhile, the range of the conduction band energy in the doped system becomes wider than that in the undoped system. The overlapping band phenomenon occur for all substitutions in Ce 1− x Zr x O 2 (from x = 0.25 to x = 0.75), especially for the structure of Ce 0.5 Zr 0.5 O 2 and Ce 0.25 Zr 0.75 O 2 , its second band gaps almost disappear. Based on the dielectric functions obtained, it is shown that the static dielectric constant ε 0 and refractive index n 0 obviously decrease with Zr concentration increasing. After discussing, we know that CeO 2 is suitable as a useful high-refractive index film material in single and multilayered optical coatings, whereas ZrO 2 can be used as gate-dielectric materials in metal-oxide semiconductor (MOS) devices, in metallurgy and as a thermal barrier coating in engines. [ABSTRACT FROM AUTHOR]

Boronic esters find increasing applications as key starting materials and central intermediates in organic synthesis. Their synthesis from highly abundant and renewable feedstocks continues to be interesting. Here, we report an efficient and one-pot method for the synthesis of aryl/heteroaryl boronic esters from phenols. In this approach, phenols are first activated by sulfuryl fluoride to form aryl fluorosulfonates, followed by a palladium-catalyzed deoxygenative borylation reaction with bis(pinacolato)diboron to provide a series of boronic esters. This methodology exhibits excellent functional group tolerance and is applicable for the synthesis of natural products and current drug molecules. In addition, this protocol is also amenable for the borylation of biomass derived phenols, including naturally occurring and bioactive compounds. Notably, a novel boronate-based NIR fluorescent probe HTCPB was synthesized using this procedure and successfully employed in fluorescence bioimaging of H2O2 in mouse mammary cancer cells. [ABSTRACT FROM AUTHOR]

The phenomenon of stochastic resonance (SR) in a tumor growth model under the presence of immune surveillance is investigated. Time delay and cross-correlation between multiplicative and additive noises are considered in the system. The signal-to-noise ratio (SNR) is calculated when periodic signal is introduced multiplicatively. Our results show that: (i) the time delay can accelerate the transition from the state of stable tumor to that of extinction, however the correlation between two noises can accelerate the transition from the state of extinction to that of stable tumor; (ii) the time delay and correlation between two noises can lead to a transition between SR and double SR in the curve of SNR as a function of additive noise intensity, however for the curve of SNR as a function of multiplicative noise intensity, the time delay can cause the SR phenomenon to disappear, and the cross-correlation between two noises can lead to a transition from SR to stochastic reverse-resonance. Finally, we compare the SR phenomenon for the multiplicative periodic signal with that for additive periodic signal in the tumor growth model with immune surveillance. [ABSTRACT FROM AUTHOR]

The dynamical properties of an overdamped Brownian particle moving in an asymmetric bistable system with quantum fluctuations are investigated. Within the strong-friction limit (the quantum Smoluchowski regime), the analytic expression for the relaxation time of the system is derived by means of the projection-operator method, in which the effects of the memory kernels are taken into account. Based on the relaxation time, we consider both the overdamped quantum case and its classical counterpart.In these contexts, the effects of the quantum fluctuations and the asymmetry of the potential are discussed. It is found that: (i) The quantum effects in an asymmetric bistable system on time scales of the relaxation process are more prominent for lower temperatures and smaller asymmetries of the potential. (ii) The quantum effects speed up the rate of fluctuation decay of the state-space variable for lower temperatures. (iii) The asymmetry of the potential first slows down the rate of fluctuation decay of the state-space variable and then increases it. [ABSTRACT FROM AUTHOR]

Background and Aims: Few studies have focused on the outcomes of Wilson's disease (WD) diagnosed before age of 5 years. This study aimed to summarize the clinical features of early diagnosed WD and analyse treatment outcomes and the risk factors associated with treatment failure. Methods: A total of 139 children confirmed with WD before 5 years were enrolled in this study. Only patients with follow‐up over 1 year were analysed with Kaplan–Meier survival analysis. The composite outcomes included death, progression to liver failure or acute hepatitis, development of renal or neurological symptoms and persistent elevation of alanine aminotransferase (ALT). The treatment failure was defined as occurrence of at least one of above outcomes. Results: Among 139 WD patients at diagnosis, two (1.4%) WD patients presented with symptomatic liver disease, whereas 137 (98.6%) were phenotypically asymptomatic, including 135 with elevated ALT and 2 with normal liver function. Median serum ceruloplasmin (Cp) was 3.1 mg/dL, and urinary copper excretion was 87.4 μg/24‐h. There were 71 variants identified in the the copper‐transporting ATPase beta gene, and 29 were loss of function (LOF). 51 patients with LOF variant were younger at diagnosis and had lower Cp than 88 patients without LOF. Among 93 patients with over 1 year of follow‐up, 19 (20.4%) received zinc monotherapy, and 74 (79.6%) received a zinc/D‐penicillamine combination therapy. 14 (15.1%) patients underwent treatment failure, and its occurrence was associated with poor compliance (p <.01). Conclusions: Cp is a reliable biomarker for early diagnosis, and zinc monotherapy is an effective treatment for WD during early childhood. Good treatment compliance is critical to achieve a favourable outcome. [ABSTRACT FROM AUTHOR]

Background: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in southern China, and performs functional analysis of the novel variants. Methods: Whole-exome sequencing was conducted on eight individuals diagnosed with Lowe syndrome from three medical institutions in southern China. Retrospective collection and analysis of clinical and genetic data were performed, and functional analysis was conducted on the five novel variants. Results: In our cohort, the clinical symptoms of the eight Lowe syndrome individuals varied. One patient was diagnosed with Lowe syndrome but did not present with congenital cataracts. Common features among all patients included cognitive impairment, short stature, and low molecular weight proteinuria. Eight variations in the OCRL gene were identified, encompassing three previously reported and five novel variations. Among the novel variations, three nonsense mutations were determined to be pathogenic, and two patients harboring novel missense variations of uncertain significance exhibited severe typical phenotypes. Furthermore, all novel variants were associated with altered protein expression levels and impacted primary cilia formation. Conclusion: This study describes the first case of an atypical Lowe syndrome patient without congenital cataracts in China and performs a functional analysis of novel variants in the OCRL gene, thereby expanding the understanding of the clinical manifestations and genetic diversity associated with Lowe syndrome. [ABSTRACT FROM AUTHOR]

In this paper, we investigate the transport and time-dependent diffusion properties of inertial Brownian particles in a one-dimensional symmetric tri-stable potential driven by correlation between multiplicative and additive noises. The effects of multiplicative and additive noises, and correlation between noises on the transport and time-dependent diffusion of the IBPs is discussed, respectively. Research results show that: (i) the correlation between noises can generate a net velocity, and its physical mechanism may be that the correlation between noises can induce state transition phenomenon; (ii) with the increase in the absolute value of the correlation strength, the mean velocity increases, while the diffusion decreases; and (iii) the mean velocity exhibits a strong nonmonotonic dependence on the multiplicative and additive noises, we also study time-dependent diffusions corresponding to these transports and find that the system has the phenomenon of coexistence of superdiffusion and subdiffusion (i.e., abnormal diffusion) in different time intervals, and superdiffusion and subdiffusion can be induced by manipulating these noises. Our research may help to further understand the self-propelled motion of biological processes, not least understanding the transport properties occurring in different stages of a biological process. [ABSTRACT FROM AUTHOR]

Objective: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high frequency of lethal outcome. Few studies have reported the phenotype and genetic characteristics of HPP in Chinese children.Case Presentation: Three forms of HPP were identified in four unrelated patients from four different Chinese families, including one lethal infantile (patient 1), two childhood (patient 2 and 3) and one odonto HPP (patient 4). Six variants in the ALPL gene were identified, including five missense mutations and one frameshift mutation. Of which, none were reported previously in the Chinese population, and two were novel (c.359G > C: p.G120A and c.1017dupG: p.H340AfsX3). Patient 1 carrying a novel homozygous (c.359G > C) mutation showed respiratory distress and pneumonia at first day of his life. He presented nearly negligible level of serum ALP activity, overall skeletal hypominaralization and died at 3 months old. Patient 2, 3 and 4 were compound heterozygotes with decreased serum ALP activity. Patient 2 and 3 presented premature loss of deciduous teeth, muscle weakness and bone pain, whereas patient 4 had early loss of deciduous teeth only. All four pedigrees exhibited autosomal recessive pattern of inheritance.Conclusions: In this study, six mutations in the ALPL gene were found in four Chinese HPP patients, two of which were novel: c.359G > C in exon 5 and c.1017dupG in exon 10. Our results strongly indicated that the novel mutation c.359G > C might be disease-causing and associated with severe infantile form of HPP. [ABSTRACT FROM AUTHOR]

Objectives: Lung cancer is one of the malignant tumors that threaten human health seriously. Long non-coding RNA (lncRNA) is an important factor affecting tumorigenesis and development. However, the mechanism of lncRNA in lung cancer progression remains to be further explored. Methods: In this study, the TCGA database was analyzed, and LINC01572 was found to be increased in lung adenocarcinoma (LUAD) tissues. Thereafter, with the help of databases including lncBase, TargetScan, and mirDIP, as well as Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, LINC01572/miRNA-338-5p/TTK regulatory axis and downstream p53 signaling pathway were excavated. qRT-PCR was adopted to detect levels of LINC01572, miRNA-338-5p, and TTK in LUAD cells. The role that LINC01572 played in LUAD cells was validated by CCK-8 assay, flow cytometry, colony formation, Transwell, and scratch healing assays. The binding ability between LINC01572/TTK and miRNA-338-5p was then verified by dual-luciferase and RIP analysis. Key findings: The results of this study demonstrated that LINC01572 was elevated in LUAD cells compared with normal cells. The overexpression of LINC01572 promoted the proliferative and migratory properties of LUAD cells but inhibited cell apoptosis. The inhibition of LINC01572 resulted in the opposite result. In addition, rescue experiments revealed that LINC01572, as a molecular sponge of miRNA-338-5p, targeted TTK to manipulate p53 for facilitating LUAD cell malignant progression. Apart from this, we constructed a mouse xenograft model and confirmed that the knockdown of LINC01572 hindered the growth of LUAD solid tumors in vivo. Conclusions: Our findings illuminated the molecular mechanism of LINC01572 influencing LUAD and provided new insights for targeted therapy of LUAD cells. [ABSTRACT FROM AUTHOR]

Metachromatic leukodystrophy (MLD) is a rare hereditary neurodegenerative disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ARSA). This study described the clinical and molecular characteristics of 24 Chinese children with MLD and investigated functional characterization of five novel ARSA variants. A retrospective analysis was performed in 24 patients diagnosed with MLD at Guangzhou Women and Children's Medical Center in South China. Five novel mutations were further characterized by transient expression studies. We recruited 17 late-infantile, 3 early-juvenile, 4 late-juvenile MLD patients. In late-infantile patients, motor developmental delay and gait disturbance were the most frequent symptoms at onset. In juvenile patients, cognitive regression and gait disturbance were the most frequent chief complaints. Overall, 25 different ARSA mutations were identified with 5 novel mutations.The most frequent alleles were p.W320* and p.G449Rfs. The mutation p.W320*, p.Q155=, p.P91L, p.G156D, p.H208Mfs*46 and p.G449Rfs may link to late-infantile type. The novel missense mutations were predicted damaging in silico. The bioinformatic structural analysis of the novel missense mutations showed that these amino acid replacements would cause severe impairment of protein structure and function. In vitro functional analysis of the six mutants, showing a low ARSA enzyme activity, clearly demonstrated their pathogenic nature. The mutation p.D413N linked to R alleles. In western blotting analysis of the ARSA protein, the examined mutations retained reduced amounts of ARSA protein compared to the wild type. This study expands the spectrum of genotype of MLD. It helps to the future studies of genotype-phenotype correlations to estimate prognosis and develop new therapeutic approach. [ABSTRACT FROM AUTHOR]

Background: Truncation FAM83H mutations cause human autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), an inherited disorder characterized by severe hardness defects in dental enamel. No enamel defects were observed in Fam83h null mice suggesting that Fam83h truncation mice would better replicate human mutations. Methods: We generated and characterized a mouse model (Fam83hTr/Tr) expressing a truncated FAM83H protein (amino acids 1–296), which recapitulated the ADHCAI‐causing human FAM83H p.Tyr297* mutation. Results: Day 14 and 7‐week Fam83hTr/Tr molars exhibited rough enamel surfaces and slender cusps resulting from hypoplastic enamel defects. The lateral third of the Fam83hTr/Tr incisor enamel layer was thinner, with surface roughness and altered enamel rod orientation, suggesting disturbed enamel matrix secretion. Regular electron density in mandibular incisor enamel indicated normal enamel maturation. Only mildly increased posteruption attrition of Fam83hTr/Tr molar enamel was observed at 7‐weeks. Histologically, the Fam83hTr/Tr enamel organ, including ameloblasts, and enamel matrices at sequential stages of amelogenesis exhibited comparable morphology without overt abnormalities, except irregular and less evident ameloblast Tomes' processes in specific areas. Conclusions: Considering Fam83h−/− mice showed no enamel phenotype, while Fam83hTr/Tr (p.Tyr297*) mice displayed obvious enamel malformations, we conclude that FAM83H truncation mutations causing ADHCAI in humans disturb amelogenesis through a neomorphic mechanism, rather than haploinsufficiency. [ABSTRACT FROM AUTHOR]

Two-dimensional (2D) materials have emerged as highly promising photocatalysts for solar-driven water splitting. They have garnered significant interest owing to their large specific surface areas and short carrier migration distances. Our study focused on the theoretical prediction of promising photocatalysts for solar-driven water splitting in XAu 4 Y (X, Y= Se, Te) monolayers and their corresponding heterostructures using first-principles calculations. XAu 4 Y are semiconductors with indirect bandgaps of 1.27–1.54 eV. Owing to their appropriate band edges, SeAu 4 Se and SeAu 4 Te were found to be suitable for solar-driven water splitting. Importantly, SeAu 4 Te achieved a Janus-induced internal electric field of 0.80 V/Å, which favored the separation of photogenerated carriers, thus improving the photocatalytic efficiency. Further, SeAu 4 Se/TeAu 4 Te and SeAu 4 Se/TeAu 4 Se heterostructures were predicted to be high-performance Z(S)-scheme photocatalysts for hydrogen evolution with strong redox abilities, efficient separation of photogenerated carriers, and enhanced light absorptions. Our findings may provide valuable insights for realizing high-performance photocatalysts for water splitting. [Display omitted] • SeAu 4 Se and SeAu 4 Te are promising solar-driven photocatalysts for water splitting. • Janus SeAu 4 Te achieve a built-in electric field to restrain electron-hole recombination. • SeAu 4 Se/TeAu 4 Te, SeAu 4 Se/TeAu 4 Se, and TeAu 4 Te/SeAu 4 Te are staggered band alignments. • SeAu 4 Se/TeAu 4 Te and SeAu 4 Se/TeAu 4 Se are efficient Z(S)-scheme charge transport mechanisms. [ABSTRACT FROM AUTHOR]

The second-order algorithm for simulating stochastic differential equations with Gaussian white noises is presented. These stochastic differential equations are universal type, among, these Gaussian white noises come from different sources. Specifically, the proposed algorithm extends previous first-order algorithm for stochastic differential equations with different white noises and second-order algorithm for stochastic differential equations with same white noise. In practice, it is proved that this algorithm is scientific. • The second-order algorithm for simulating universal SDEs with Gaussian white noises is presented. • This algorithm is applied in Ginzburg–Landau model and two modes laser with Gaussian white noise. • It is proved that this algorithm is scientific. [ABSTRACT FROM AUTHOR]

Although perovskite solar cells (PSCs) are regarded as one of the most promising photovoltaic technologies, the interfacial defects and energy barrier are the main bottlenecks for further improving their photovoltaic performance and stability. Herein, an effective, facile "molecular bridge" strategy to improve the photovoltaic performance and stability of PSCs simultaneously is reported. This strategy is realized by introducing a self‐assembly molecule, namely, 5‐fluoro‐pyridine carboxylic acid (5‐FPA), to modify the SnO2/perovskite buried interface. The functional groups (F and CO) of 5‐FPA form strong chemical interactions with perovskite and SnO2 layers, which improve interfacial carrier extraction and perovskite film quality with better crystallization and less strain. As a result, photovoltaic performance is substantially improved with power conversion efficiencies exceeding 23%, accompanied by enhanced stability under thermal and ambient conditions. This study opens a new avenue to improve the performance and stability of perovskite photovoltaics through the "molecular bridge" strategy. [ABSTRACT FROM AUTHOR]

Rare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three-generation Chinese family with co-occurrence of spondyloepiphyseal dysplasia (SED) and X-linked hypophosphatemia (XLH), and evaluate the therapeutic effects of two third-generation siblings. The proband, his younger brother, and mother presented with short stature, skeletal problems, and hypophosphatemia. His father, paternal grandfather, and aunt also manifested short stature and skeletal deformities. Whole exome sequencing (WES) of proband–brother–parents initially only found the proband and his younger brother had a pathogenic c.2833G > A(p.G945S) variant in the COL2A1 gene inherited from their father. Re-analysis of WES uncovered the proband and his younger brother also harbored a pathogenic ex.12 del variant in the PHEX gene transmitted from their mother. Sanger sequencing, agarose gel electrophoresis, and quantitative polymerase chain reaction proved these results. The proband and his younger brother were confirmed to have a paternally inherited SED and a maternally inherited XLH. During a 2.8-year follow-up, these two siblings remained short stature and hypophosphatemia, but their radiographic signs and serum bone alkaline phosphatase levels were improved with treatment of oral phosphate and calcitriol. Our study presents the first report of co-occurrence of SED and XLH, shows the possibility that two different rare GSDs co-exist in a single patient, and alerts clinicians and geneticists to be cautious about this condition. Our study also suggests that next-generation sequencing has limit in detecting exon-level large deletions. [ABSTRACT FROM AUTHOR]

Thermal rectification is a mechanism that controls the direction of heat conduction, allowing it to flow freely in one direction and hindering it in the opposite direction. In this study, we propose a heat conduction model on a complex network where the node masses are non-uniformly distributed according to m i ∼ k i α. Our findings show that the existence of a critical point, α = 1 , determines the working mode of thermal rectification. For α > --> 1 , the working mode of thermal rectification is positive, whereas for α < 1 , the working mode is negative. Additionally, we discovered that this critical transition is a general phenomenon and does not vary with changes in network size, average degree, or degree distribution. By conducting theoretical analyses based on phonon spectra, we also identified the physical mechanism of the critical transition. These results provide a new approach to implement and enrich thermal diodes, opening up new possibilities for more efficient thermal management. [ABSTRACT FROM AUTHOR]

In this paper, we investigate early warning signals (EWS) of regime shifts in a density-dependent invading population model with time delay, in which the population density is assumed to be disturbed by intrinsic and extrinsic fluctuations. It is shown that the time delay and noises can cause the regime shifts between low and high population density states. The regime shift time (RST) as a function of noise intensity exhibits a maximum, which identifies the signature of the noise-enhanced stability of the low density state, while the time delay weakens the stability of the low density state. Applying the Kramers time technique, we also discuss the intersection point of the RST between low and high population density states, i.e., a critical point in the RST is found. Therefore, the critical point may give an EWS of regime shifts from one alternative state to another one for the changes in the noise parameters and time delay. [ABSTRACT FROM AUTHOR]

Thermoelectric (TE) technology, which can convert scrap heat into electricity, has attracted considerable attention. However, broader applications of TE are hindered by lacking high-performance thermoelectric materials, which can be effectively progressed by regulating the carrier concentration. In this work, a series of PbSe(NaCl)x (x = 3, 3.5, 4, 4.5) samples were synthesized through the NaCl salt-assisted approach with Na+ and Cl− doped into their lattice. Both theoretical and experimental results demonstrate that manipulating the carrier concentration by adjusting the content of NaCl is conducive to upgrading the electrical transport properties of the materials. The carrier concentration elevated from 2.71 × 1019 cm−3 to 4.16 × 1019 cm−3, and the materials demonstrated a maximum power factor of 2.9 × 10−3 W m−1 K−2. Combined with an ultralow lattice thermal conductivity of 0.7 W m−1 K−1, a high thermoelectric figure of merit (ZT) with 1.26 at 690 K was attained in PbSe(NaCl)4.5. This study provides a guideline for chemical doping to improve the thermoelectric properties of PbSe further and promote its applications. [ABSTRACT FROM AUTHOR]

[Display omitted] • Studied the adsorption of SMR intermediates on Ni 4 /CeO 2 , finding active sites were not limited to the metal sites. • By calculating different reaction paths, Ni 4 modification changed the rate-limiting step and improved the reaction efficiency. • The interaction of Ni 4 cluster and CeO 2 surface reduced reaction energy of methane activation and water dissociation. • The electronic structure analysis illustrates the reason why the modified surface promotes SMR and changes the rate-limiting step. Steam methane reforming was an efficient means to produce syngas from natural gas. The electronic structure of Ni 4 clusters modified CeO 2 catalysts would change, and this could promote the reaction. The study investigated methane steam reforming over Ni clusters adsorbed on CeO 2 (1 1 1) using the density functional theory (DFT + U) method. The most stable model configurations were obtained by placing Ni 4 clusters in the top, bridge, and hollow sites on the CeO 2 (1 1 1) surface O. The results indicate that the most stable adsorption model is the adsorption of Ni 4 clusters on the surface O. On this basis, the free energies were calculated by frequency calculation for each steadied adsorption configuration, and the primary reaction pathways of steam methane reforming were discovered comparing changes of free energies about each pathway. Main research achievements were as follows: Steam methane reforming comprised four steps of CH 4 direct dissociation, H 2 O dissociation, CO/H 2 formation and the reaction of intermediates. Furthermore, the catalytic property of Ni 4 clusters modified CeO 2 catalysts was greater than CeO 2 surface. This study reveals the complete reaction pathway of methane steam reforming on nickel-cerium-based materials, which is useful for the development and improvement of methane steam reforming catalysts. [ABSTRACT FROM AUTHOR]

Through theoretical analysis and numerical simulation, we investigate ratchet effect of active particles in biased velocity potential in the presence of cross-correlated noises. For a single active particle, the mean velocity and mobility suggest that cross-correlated noises can lead to the ratchet effect. The finding is interpreted by the time series, the rectified potential, mean square displacement, and the diffusion coefficient. The diffusion displays hyperdiffusion, superdiffusion, and normal diffusion for different conditions and time intervals. The crossover times that separates these stages can be controlled by cross-correlated noises and static force. For interacting active particles, we find through time series and average velocity that the weak interaction between particles, which leads to weak collective motion, can enhance the ratchet effect. However, the strong interaction, which results in strong collective motion, can weaken, even eliminate it. Our results may provide a valuable way to control the transport of active particles through the ratchet effect. [ABSTRACT FROM AUTHOR]

[Display omitted] • The regular lamellar structure of g-C 3 N 4 was regulated into a porous nitrogen defect-rich structure. • The constructed direct Z-scheme g-C 3 N 4-x /MoO 3 heterojunction was an efficient photocatalyst. • The •O 2 – and •OH were the primary active species for photocatalytic removal of TC. • The toxicity of TC degradation intermediates was explored and possible degradation pathway was proposed. Utilizing photocatalysis to degrade antibiotics in wastewater is a vital strategy. Here, a Z-scheme heterojunction was synthesized, consisting of defect-rich porous g-C 3 N 4 and MoO 3 , which exhibits remarkable photocatalytic degradation of tetracycline (TC). The results revealed that the optimal heterojunction sample exhibited a 2.47-fold enhancement of degradation efficiency compared with porous g-C 3 N 4-x. Characterization analysis shows that the significant enhancement is attributed to the synergistic effects arising from the Z-scheme heterostructure and the introduction of nitrogen (N) defects, which collectively enhance the charge separation and light absorption capabilities of the material. Electron paramagnetic resonance (EPR) spectroscopy and free radical quenching experiments indicate that the vital degradation mechanism is the assault of •O 2 – and •OH on tetracycline. Additionally, the LC-MS studies demonstrated possible intermediates and degradation pathway of TC. The toxicity simulation analysis revealed that the heterojunction sample effectively mitigated the toxicity of tetracycline solution. This catalyst exhibits promising potential for applications in the elimination of antibiotics from aquatic environments. [ABSTRACT FROM AUTHOR]

Bismuth-based (Bi) perovskites have garnered significant interest as alternatives to lead-based (Pb) perovskites in photoelectric applications due to their non-toxicity and diverse structural properties. However, the inherent high limitation of electrons presents a significant challenge to their further utilization in various applications. Herein, all-inorganic Cs 3 Bi 2 I 9 nanowire arrays have been successfully prepared by AAO template combined with the two-step method of low-temperature solution. Compared to the Cs 3 Bi 2 I 9 film, the Cs 3 Bi 2 I 9 nanowire arrays obtained the higher photoluminescence intensity, indicating a strong interaction between Cs 3 Bi 2 I 9 and AAO, resulting from the significant weakening of the high electron confinement in the valence band of Cs 3 Bi 2 I 9 , which presenting as the valence band of the Cs 3 Bi 2 I 9 -AAO is mainly contributed by the O 2p orbital, while the conduction band does not change significantly. In addition, the Cs 3 Bi 2 I 9 nanowire arrays have been demonstrated with the enhanced environmental and thermal stability, which maintain 90 % of their initial photoluminescence intensity after 120 h (in a vacuum) heating at 80 °C or after 10 days in the air (relative humidity of 40 %). [Display omitted] • Cs 3 Bi 2 I 9 -AAO nanowire arrays with excellent photoluminescent. • Strong interaction between Cs 3 Bi 2 I 9 and AAO. • Adjusted band structure of Cs 3 Bi 2 I 9 by template. • The weakened inherent limitation of electrons in Cs 3 Bi 2 I 9. [ABSTRACT FROM AUTHOR]

Background: Serum ceruloplasmin is one of the major diagnostic parameters for Wilson's disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin level for WD in children up to age of 15 years.Methods: Serum ceruloplasmin levels were measured in 317 WD patients, 21 heterozygotes, 372 healthy control children and 154 non-WD patients with other liver diseases. Receiver operating characteristic (ROC) curve was used to determine the diagnostic accuracy of serum ceruloplasmin for WD in children.Results: Among healthy controls, serum ceruloplasmin level was slightly low in the infants younger than 6 months, and then maintained from 26 to 33 mg/dl after age of 6 months. A total of 8.1% of healthy children had levels of serum ceruloplasmin < 20 mg/dL. Serum ceruloplasmin level was 5.7 ± 4.7 mg/dl in WD patients, and 25.6 ± 5.9 mg/dl in heterozygous carriers. Only 1.9% of WD patients had serum ceruloplasmin levels > 20 mg/dL. Serum ceruloplasmin levels had gender difference, being higher in healthy boys than healthy girls, and higher in asymptomatic WD boys than asymptomatic WD girls (p < 0.01, p < 0.05). Serum ceruloplasmin levels also presented genotypic difference. WD patients with R778L homozygotes exhibited lower levels of serum ceruloplasmin than the patients without R778L (p < 0.05). The ROC curve revealed that serum ceruloplasmin level, at a cutoff value of 16.8 mg/dL, had the highest AUC value (0.990) with a sensitivity of 95.9% and a specificity of 93.6%.Conclusions: Serum ceruloplasmin is one of sensitive diagnostic biomarkers for WD in children. Gender and genotypic difference of serum ceruloplasmin level should be considered. The cutoff value of serum ceruloplasmin level < 16.8 mg/dL may provide the highest accuracy for diagnosis of WD in children. [ABSTRACT FROM AUTHOR]

X-linked hypophosphatemic rickets (XLH) is the most common form of hypophosphatemic rickets, which is caused by the deficiencies of PHEX gene with an X-linked dominant inheritance pattern. As at least several thousands of XLH patients have been diagnosed, only several males and fewer females with mosaicism of PHEX gene were found. Here we describe an XLH girl with two de novo mosaic variants within the same site of PHEX gene. To rapidly screen all of the causative genes of hypophosphatemic rickets and rule out other diseases, DNA samples were initially analyzed using whole exome sequencing (WES). Interestingly, two different pathogenic mosaic variants, a known c.1809G > A(p.W603*) variant and a novel c.1809G > T(p.W603C) variant within the same site of PHEX gene, were identified in the proband by WES. Subsequent Sanger sequencing confirmed the presence and de novo pattern of these two mosaic variants in the proband, which were absent in her healthy parents. This is the first case to report two different mosaic variants of PHEX gene in an XLH individual. This XLH girl has a de novo mosaic genotype of c.1809 = /G > T/G > A in PHEX gene. Our report adds an unusual mocaicism case for XLH and expands the mutational event and spectrum of PHEX gene. Our report also alerts clinicians and geneticists to be cautious about mocaicism and detection methods. [ABSTRACT FROM AUTHOR]

Background: Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. The disease is frequently misdiagnosed and mistreated as familial hypercholesterolemia (FH). To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was reviewed and summarized. Method: Literature search was performed. The clinical features and molecular characteristics of Chinese patients with sitosterolemia were analysed. Four children with sitosterolemia and the treatment experience were described. Results: Fifty-five patients with sitosterolemia have been reported in China. These patients were aged from 3 months to 67 years at diagnosis, and the median was 8 years of age. Several complications, such as xanthomas in 47 patients (85%), thrombocytopenia in 17 patients (31%), anemia in 14 patients (25%), and cardiovascular damage in 12 patients (22%), were observed. Thirty-nine patients (71%) exhibited mutations in the ABCG5 gene, 15 patients (27%) showed mutations in ABCG8, and variations in both genes occurred in one patient (2%). A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage disease type VI (GSD VI)), is reported here for the first time. The four reported patients were treated with low cholesterol and phytosterol-limited diet alone or combined with cholestyramine. Even though decreases were observed for total plasma cholesterol (TC) and low-density-lipoprotein cholesterol (LDL-C), and these levels were as low as normal in some patients, the levels of plant sterols remained above the normal range. However, TC, LDL-C and plant sterol levels remained at high levels in patients treated with a control diet control only. Conclusions: The analysis reveals that different from Caucasians carrying mainly variations in ABCG8, most Chinese patients have mutations in the ABCG5 gene, and Arg446Ter, Gln251Ter, anArg389His might be hot-spot mutations in Chinese patients. The current survey provides clinical data to enable the development of a standardized protocol for the diagnosis and treatment of sitosterolemia in China. [ABSTRACT FROM AUTHOR]

This study aimed to explore the clinical and genetic features of Chinese patients with mucopolysaccharidosis type VII (MPS VII), thereby improving early detection, disease management, and patient outcomes. A retrospective review of medical records for five patients presenting with coarse facial features, rib protrusion, chest deformities, and scoliosis was conducted. Exome sequencing was employed to identify causative genetic mutations. The study comprised five patients (four males, one female) with disease onset at six months of age (range: 0–1.5 years). Common symptoms included coarse facial features, skeletal abnormalities, delayed motor and language development, and intellectual disability. Approximately 80% of the patients exhibited multiple skeletal dysplasias, enlarged adenoids or tonsils, and snoring; 60% had hernias; 40% reported hearing loss and hepatosplenomegaly. Less frequent manifestations were short stature, valvular heart disease, non-immune hydrops fetalis, and corneal opacity. All patients demonstrated elevated urine glycosaminoglycans levels and absent β-glucuronidase activity in leukocytes. Exome sequencing identified compound heterozygous mutations in the GUSB gene in all four tested patients, uncovering seven mutations in total, three of which were novel (c.189G > A, c.869C > T, and c.1745 T > C). Furthermore, prenatal diagnosis through chorionic villus sampling in subsequent pregnancies of one patient's mother revealed both fetuses had normal β-glucuronidase activity and no disease-causing mutations in the GUSB gene. The study's patients all presented with classic symptoms of MPS VII due to β-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for disease prevention. [ABSTRACT FROM AUTHOR]

Dopa and tetrahydrobiopterin (BH4) supplementation are recommended therapies for the dopa-responsive dystonia caused by GTP cyclohydrolase 1 (GCH1 , also known as GTPCH) deficits. However, the efficacy and mechanisms of these therapies have not been intensively studied yet. In this study, we tested the efficacy of dopa and BH4 therapies by using a novel GTPCH deficiency mouse model, Gch1 KI/KI , which manifested infancy-onset motor deficits and growth retardation similar to the patients. First, dopa supplementation supported Gch1 KI/KI mouse survival to adulthood, but residual motor deficits and dwarfism remained. Interestingly, RNAseq analysis indicated that while the genes participating in BH4 biosynthesis and regeneration were significantly increased in the liver, no significant changes were observed in the brain. Second, BH4 supplementation alone restored the growth of Gch1 KI/KI pups only in early postnatal developmental stage. High doses of BH4 supplementation indeed restored the total brain BH4 levels, but brain dopamine deficiency remained. While total brain TH levels were relatively increased in the BH4 treated Gch1 KI/KI mice, the TH in the striatum were still almost undetectable, suggesting differential BH4 requirements among brain regions. Last, the growth of Gch1 KI/KI mice under combined therapy outperformed dopa or BH4 therapy alone. Notably, dopamine was abnormally high in more than half, but not all, of the treated Gch1 KI/KI mice, suggesting the existence of variable synergetic effects of dopa and BH4 supplementation. Our results provide not only experimental evidence but also novel mechanistic insights into the efficacy and limitations of dopa and BH4 therapies for GTPCH deficiency. [ABSTRACT FROM AUTHOR]

We study an inertial Brownian particle moving in a spatially-periodic symmetric potential under the influence of a time periodic and constant biasing driving force, and a Gaussian white noise. Within tailored parameter regimes, our results show: (i) the phenomenon of the absolute negative mobilities (ANMs) in different regimes of the constant bias, with the potential fluctuations that can diminish the ANMs and the vanishing of ANMs for larger potential fluctuations; and (ii) the multiple current reversals as a function of the constant bias, observed for smaller potential fluctuations. • We study an inertial Brownian particle moving in a spatially-periodic symmetric potential. • We show that the phenomenon of the absolute negative mobilities exists. • Multiple current reversals as a function of the constant bias can be observed. [ABSTRACT FROM AUTHOR]

In this paper, we investigate the dynamical properties of active Brownian particles (ABPs) in the Schweitzer–Ebeling–Tilch (SET) model with time delay feedback which is driven by external and internal noises. The effects of time delay feedback, external and internal noises on the stationary probability distribution (SPD) and the mean first passage time (MFPT) of the ABPs are discussed, respectively. The results are shown as following: (i) the intensity of time delay feedback (K) can induce the transition between bimodal to unimodal states in the motion of a particle on the SPD, and the time delay can enhance the impacts of the intensity of time delay feedback K inducing transitions from the two stable states (ii) the MFPT as function of the noise strengths shows a maximum, which implies the signature of noise-enhanced stability (NES) phenomenon of the velocity v − in the ABPs for SET model. The positive or negative time delay feedback can enhance or weaken the stability of the motion of the ABPs. • We investigate dynamical properties of ABPs in the SET model. • Time delay can induces transition from two stable states. • MFPT as function of the noise strengths can be observed the maximum. [ABSTRACT FROM AUTHOR]

• We established a high risk screening program for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China. • 55 (7.0%) cases were identified. The sensitivity and specificity of the program were 98.2% and 89.5%, respectively. • 3. The confirmed GD patients presented splenomegaly (100%), hepatomegaly (70.9%), thrombocytopenia(83.6%), indicating the patients with unexplained splenomegaly are the most suitable candidates to be screened. Gaucher disease (GD) is a common lysosomal storage disorder caused by deficiency of glucocerebrosidase (GCase) due to the pathogenic variants in the GBA gene. The aim of this study was to evaluate the performance of high risk screening program for GD by measuring the enzyme activities of GCase and chitotriosidease in dried blood spots of patients with splenomegaly and/or thrombocytopenia. A total of 787 subjects (364 females and 423 males) with unexplained splenomegaly and/or thrombocytopenia were enrolled in this study from May 2016 to Aug 2019. The cutoff value of GCase activity was set as less than 3.0 pmol/punch/h for screening positive. The diagnosis of GD was confirmed by Sanger sequencing of the GBA gene. Among 131 screening positive cases, 49 patients were confirmed GD. The positive predictive value was 37.4%.Three patients with boundary values (GCase 3–4 pmol/punch/h) and other three splenectomic patients with normal GCase activity were confirmed GD by GBA genetic analysis because of increased chitotriosidase or Gaucher cells in bone marrow. A total of 55 GD cases were identified. The sensitivity and specificity of the high risk screening were 98.2% and 89.5%, respectively. These 55 GD patients presented splenomegaly (100%), hepatomegaly (70.9%), thrombocytopenia (83.6%). The level of GCase in GD patients was (1.7 ± 1.6) pmol/punch/h. The increased chitotriosidase (383.8 ± 130.2 pmol/punch/h) was found in 42 (76.4%) patients with GD. Molecular genetic analysis identified 44 variants in the GBA gene, including 11 novel variants. The results showed the high risk screening for GD is accurate, rapid and cost-effective. [ABSTRACT FROM AUTHOR]

Ecological dynamic systems often undergo catastrophic regime shifts and have tipping points. Due to the complex interactions and feedbacks among different components of the systems, predicting such transition is a challenging task. This paper investigates the transition patterns of vegetation collapse in semiarid grazing systems. We propose the fractal dimension as a spatial early warning signal to detect this transition. The fractal dimension considers the spatial evolution from the perspective of self-similarity between vegetation. We show that the fractal dimension always decreases to a minimum when the system approaches the critical region, indicating a loss of resilience. We also assess the sensitivity of the fractal dimension under different scenarios of diffusion coefficients and noise levels, which affect the spatial patterns of the vegetation. We compare and analyze the fractal dimension with two commonly used metrics, spatial variance and skewness, and a novel deep learning method in the current research. We also investigate how well the fractal dimension performs with lower-resolution spatial data. Results indicate that the fractal dimension successfully predicts impending critical transition. It turns out that the fractal dimension is a reliable indicator and has significant implications for preventing desertification. • Fractal-based spatial indicator predicts catastrophic regime shifts in ecological systems. • Fractal dimension drops to a minimum, a reliable warning signal for critical transitions. • Fractal dimension outperforms two generic indicators and deep learning. • The study advances spatial early warning signals, offers monitoring tool. [ABSTRACT FROM AUTHOR]