Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.

Pediatric patients of autosomal dominant early onset osteoporosis conferred by heterozygous mutation in the WNT1 (OMIM: 615221) were rarely reported, and therapy in pediatrics is relatively inexperienced. The clinical and genotypic characteristics and treatment process of four children with osteoporosis caused by WNT1 monoallelic variation were analyzed. The patients admitted from June 2023 to January 2024.

Xalnesiran with or without an Immunomodulator in Chronic Hepatitis B.

Background: Xalnesiran, a small interfering RNA molecule that targets a conserved region of the hepatitis B virus (HBV) genome and silences multiple HBV transcripts, may have efficacy, with or without an immunomodulator, in patients with chronic HBV infection.

Methods: We conducted a phase 2, multicenter, randomized, controlled, adaptive, open-label platform trial that included the evaluation of 48 weeks of treatment with xalnesiran at a dose of 100 mg (group 1), xalnesiran at a dose of 200 mg (group 2), xalnesiran at a dose of 200 mg plus 150 mg of ruzotolimod (group 3), xalnesiran at a dose of 200 mg plus 180 μg of pegylated interferon alfa-2a (group 4), or a nucleoside or nucleotide analogue (NA) alone (group 5) in participants with chronic HBV infection who had virologic suppression with NA therapy. The primary efficacy end point was hepatitis B surface antigen (HBsAg) loss (HBsAg level, <0.

Phase Diagram, d-Wave Superconductivity, and Pseudogap of the t-t^{'}-J Model at Finite Temperature.

Recently, robust d-wave superconductive (SC) order has been unveiled in the ground state of the 2D t-t^{'}-J model-with both nearest-neighbor (t) and next-nearest-neighbor (t^{'}) hoppings-by density matrix renormalization group studies. However, there is currently a debate on whether the d-wave SC holds up strong on both t^{'}/t>0 and t^{'}/t<0 cases for the t-t^{'}-J model, which correspond to the electron- and hole-doped sides of the cuprate phase diagram, respectively. Here, we exploit state-of-the-art thermal tensor network approach to accurately obtain the phase diagram of the t-t^{'}-J model on cylinders with widths up to W=6 and down to low temperature as T/J≃0.

The association between the polymorphism of RAR related orphan receptor beta and the clinical manifestations of oral squamous cell carcinoma.

Oral squamous cell carcinoma (OSCC) affects a substantial proportion of the Asian population and is influenced by various genetic risk factors. The (), a regulator of the circadian rhythm, has been implicated in certain neoplasms. Accordingly, this study investigated the association between single-nucleotide polymorphisms and clinical manifestations of OSCC.

PCCA variant rs16957301 is a novel AKI risk genotype-specific for patients who receive ICI treatment: Real-world evidence from all of us cohort.

Introduction: Immune checkpoint inhibitors (ICIs) enhance the immune system's ability to target and destroy cancer cells, but can also trigger immune-related adverse events (irAEs), such as acute kidney injury (ICI-AKI), complicating patient management. Limited knowledge of genetic predispositions to ICI-AKI highlights the need for genomic studies to improve therapeutic strategies.

Objective: To identify genetic predispositions for ICI-AKI using large-scale real-world data.

Superconductivity and nematic order in a new titanium-based kagome metal CsTiBi without charge density wave order.

The cascade of correlated topological quantum states in the newly discovered vanadium-based kagome superconductors, AVSb (A = K, Rb, and Cs), with a Z topological band structure has sparked immense interest. Here, we report the discovery of superconductivity and electronic nematic order in high-quality single-crystals of a new titanium-based kagome metal, CsTiBi, that preserves the translation symmetry, in stark contrast to the charge density wave superconductor AVSb. Transport and magnetic susceptibility measurements show superconductivity with an onset superconducting transition temperature T of approximately 4.

Molecular genetic analysis of two novel a allele to cause A phenotype in Chinese.

Background: Mutations of ABO gene may cause the dysfunction of ABO glycosyltransferase (GT) that can result in weak ABO phenotypes. Here, we identified two novel weak ABO subgroup alleles and explored the mechanism that caused A phenotype.

Materials And Methods: The ABO phenotyping and genotyping were performed by serological studies and direct DNA sequencing of ABO gene.

Light-induced insulator-metal transition in SrIrO reveals the nature of the insulating ground state.

SrIrO has attracted considerable attention due to its structural and electronic similarities to LaCuO, the parent compound of high- superconducting cuprates. It was proposed as a strong spin-orbit-coupled = 1/2 Mott insulator, but the Mott nature of its insulating ground state has not been conclusively established. Here, we use ultrafast laser pulses to realize an insulator-metal transition in SrIrO and probe the resulting dynamics using time- and angle-resolved photoemission spectroscopy.

Room-temperature ferromagnetism, half-metallicity and spin transport in monolayer CrScTe-based magnetic tunnel junction devices.

The discovery of novel two-dimensional (2D) half-metallic materials with a robust ferromagnetic (FM) order and a high Curie temperature () is attractive for the advancement of next-generation spintronic devices. Here, we propose a monolayer with stable 2D intrinsic FM half-metallicity, , the CrScTe monolayer, which was constructed by intercalating a monolayer of 1T-CrTe-type sandwiched between two layers of 2H-ScTe monolayers. Our calculations reveal that it exhibits exceptional dynamical, thermal, and mechanical stabilities accompanied by a robust half-metallicity characterized by a wide bandgap of 1.

Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes.

Background: The cashmere goat industry is one of the main pillars of animal husbandry in Inner Mongolia Autonomous Region, and plays an irreplaceable role in local economic development. With the change in feeding methods and environment, the cashmere produced by Inner Mongolia cashmere goats shows a tendency of coarser, and the cashmere yield can not meet the consumption demand of people. However, the genetic basis behind these changes is not fully understood.

Prognostic Impact of Heart Rhythm Shockability Trajectory in Out-of-Hospital Cardiac Arrest: A Multicenter Retrospective Study.

Background: This study aimed to investigate the association between the temporal transitions in heart rhythms during cardiopulmonary resuscitation (CPR) and outcomes after out-of-hospital cardiac arrest.

Methods: This was an analysis of the prospectively collected databases in 3 academic hospitals in northern and central Taiwan. Adult patients with out-of-hospital cardiac arrest transported by emergency medical service between 2015 and 2022 were included.

Effect of osmotic pressure and simultaneous heat-moisture phosphorylation treatments on the physicochemical properties of mung bean, water caltrop, and corn starches.

This study aimed to investigate the physicochemical properties of modified starch prepared through the simultaneous heat-moisture and phosphorylation treatment (HMPT) and osmotic pressure treatment (OPT) for water caltrop starch (WCS), mung bean starch (MBS), and amylose-rich corn starch (CS) for different time periods. Furthermore, variations in starch content [amylose and resistant starch (RS)], swelling powder (SP), water solubility index (WSI), crystallinity, thermal properties, gelatinization enthalpy (ΔH), and glycemic index (GI) were examined. This study demonstrates that neither HMPT nor OPT resulted in a significant increase in the resistant starch (RS) content, whereas all samples succeeded in heat-treating at 105 °C for another 10 min exhibited a significant increase in RS content compared to their native counterparts.

Large valley polarization and the valley-dependent Hall effect in a Janus TiTeBr monolayer.

Ferrovalley materials hold great promise for implementation of logic and memory devices in valleytronics. However, there have so far been limited ferrovalley materials exhibiting significant valley polarization and high Curie temperature (). Using first-principles calculations, we predict that the TiTeBr monolayer is a promising ferrovalley candidate.

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.

Objective: 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.

Methods: 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.

Two-Dimensional Spin-Crossover Molecular Solid Solutions with Tunable Transition Temperatures across 90 K.

Spin-crossover (SCO) materials exhibit remarkable potential as bistable switches in molecular devices. However, the spin transition temperatures () of known compounds are unable to cover the entire ambient temperature spectrum, largely limiting their practical utility. This study reports an exemplary two-dimensional SCO solid solution system, = 5--2-hydroxybenzylidene-hydrazinecarbothioamide, = F or Cl, = 0 to 1), in which the adjacent layers are adhered via hydrogen bonding.

Bilayer t-J-J_{⊥} Model and Magnetically Mediated Pairing in the Pressurized Nickelate La_{3}Ni_{2}O_{7}.

The recently discovered nickelate superconductor La_{3}Ni_{2}O_{7} has a high transition temperature near 80 K under pressure, providing an additional avenue for exploring unconventional superconductivity. Here, with state-of-the-art tensor-network methods, we study a bilayer t-J-J_{⊥} model for La_{3}Ni_{2}O_{7} and find a robust s-wave superconductive (SC) order mediated by interlayer magnetic couplings. Large-scale density matrix renormalization group calculations find algebraic pairing correlations with Luttinger parameter K_{SC}≲1.

Epitaxial Growth and Characterization of Nanoscale Magnetic Topological Insulators: Cr-Doped (BiSb)Te.

The exploration initiated by the discovery of the topological insulator (BiSb)Te has extended to unlock the potential of quantum anomalous Hall effects (QAHEs), marking a revolutionary era for topological quantum devices, low-power electronics, and spintronic applications. In this study, we present the epitaxial growth of Cr-doped (BiSb)Te (Cr:BST) thin films via molecular beam epitaxy, incorporating various Cr doping concentrations with varying Cr/Sb ratios (0.025, 0.

Toward intrinsic ultra-high-temperature ferromagnetism in a CrAuTe/graphene heterosystem.

Exploring intrinsic two-dimensional (2D) ferromagnetic (FM) materials with high Curie temperatures () and large magnetic anisotropy energies (MAE) is one of the effective solutions to develop materials for high-performance spintronic applications. Using density functional theory calculations and high-throughput computations, we predict an intrinsic bimetallic FM monolayer, CrAuTe, which has a large MAE and high . The results show that the value of the MAE can reach about 1.

Improving the Corrosion Resistance of Zn-Rich Epoxy Coating with Three-Dimensional Porous Graphene.

To improve the corrosion inhibition of zinc-rich epoxy (ZRE) composite coatings and shed light on the influence of the spatial structure of graphene fillers on the coatings' performance, three-dimensional graphene (3DG) and a conventional graphene sheet (G) were used to modify the ZRE composite paint, respectively. The effect of introducing the 2D G fillers on the anti-corrosion behavior of ZRE was studied comprehensively, and its optimal content was determined to be 0.5 wt%.

Structure-guided inhibition of the cancer DNA-mutating enzyme APOBEC3A.

The normally antiviral enzyme APOBEC3A is an endogenous mutagen in human cancer. Its single-stranded DNA C-to-U editing activity results in multiple mutagenic outcomes including signature single-base substitution mutations (isolated and clustered), DNA breakage, and larger-scale chromosomal aberrations. APOBEC3A inhibitors may therefore comprise a unique class of anti-cancer agents that work by blocking mutagenesis, slowing tumor evolvability, and preventing detrimental outcomes such as drug resistance and metastasis.