Clinical features and genetic analysis of A20 haploinsufficiency.

Objective: To described clinical and genetic characteristics of 4 patients presenting A20 haploinsufficiency (HA20) treated at Children's hospital affiliated to Zhengzhou university from 2015 to 2024.

Methods: A retrospective analysis was conducted on the clinical data, genetic testing results, and treatment outcomes of four children with HA20 treated at the Children's hospital affiliated to Zhengzhou university from 2015 to 2024.

Results: All four patients developed symptoms before the age of 1 year, presenting with recurrent fever and abdominal pain with diarrhea.

-Mediated Synergistic Regulation of ROS, Hormonal Signaling, and Defense Gene Networks Drives Maize Immunity to Southern Corn Leaf Blight.

The rapid evolution of pathogens and the limited genetic diversity of hosts are two major factors contributing to the plant pathogenic phenomenon known as the loss of disease resistance in maize ( L.). It has emerged as a significant biological stressor threatening the global food supplies and security.

Mixed valence VOinduced by Kenable ultra-long cycling life for aqueous zinc ion batteries.

Identifying new cathode materials with excellent properties is crucial for improving the overall energy-storage performance of aqueous zinc-ion batteries (AZIBs). Vanadium-based materials with superior theoretical specific capacities are the main candidates for cathode materials in AZIBs; however, their slow kinetics and poor stability limit their application. Hence, we prepared K0.

Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age.

Methylmalonic acidemia (MMA) is the most common inborn organic acidemia, presenting multisystemic complications. Uric acid may have neurotoxic or neuroprotective effects due to its antioxidant or pro-inflammatory properties; however, its role in MMA brain injury remains unclear. We examined the correlation between the serum uric acid levels and brain imaging features of MMA.

Panthenol Additives with Multiple Coordination Sites Induce Uniform Zinc Deposition and Inhibited Side Reactions for High Performance Aqueous Zinc Metal Battery.

Application of aqueous zinc metal batteries (AZMBs) in large-scale new energy systems (NESs) is challenging owing to the growth of dendrites and frequent side reactions. Here, this study proposes the use of Panthenol (PB) as an electrolyte additive in AZMBs to achieve highly reversible zinc plating/stripping processes and suppressed side reactions. The PB structure is rich in polar groups, which led to the formation of a strong hydrogen bonding network of PB-HO, while the PB molecule also builds a multi-coordination solvated structure, which inhibits water activity and reduces side reactions.

Enantio- and Diastereoselective Copper-Catalyzed Borylative Coupling of Styrenes and Azadienes.

Here we disclose a CuB-catalyzed reaction between aurone-derived α,β-unsaturated imines and styrenes to produce 2-substituted benzofuran derivatives bearing both the γ-boryl functionality and α,β-unsymmetric stereogenic centers. The reaction represents the first transition-metal-catalyzed unsymmetric 1,4-Michael additions of azadienes, which would enrich the arsenal of CuB catalysis in organic synthesis. In addition, the synthetically versatile boron-alkylated products can be elaborated by chemical transformations to useful optically active benzofuran heterocycles.

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder, and cases caused by variants in the structural maintenance of chromosomes protein 3 (SMC3) gene are uncommon. Here, we report two cases of CdLS associated with novel pathogenic variants in SMC3 from two Chinese families.

Methods: Clinical presentations of two patients with CdLS were evaluated, and specimens from the patients and other family members were collected for Trio-based whole-exome sequencing.

Trigger a multi-electron reaction by tailoring electronic structure of VO toward more efficient aqueous zinc metal batteries.

VO (B) is recognized as a promising cathode material for aqueous zinc metal batteries (AZMBs) owing to its remarkable specific capacity and its unique, expansive tunnel structure, which facilitates the reversible insertion and extraction of Zn. Nonetheless, challenges such as the inherent instability of the VO structure, poor ion/electron transport and a limited capacity due to the low redox potential of the V/V couple have hindered its wider application. In this study, we present a strategy to replace vanadium ions by doping Al in VO.

Ferroelectricity-Defects Synergistic Artificial Synapses for High Recognition Accuracy Neuromorphic Computing.

The ability of ferroelectric memristors to modulate conductance and offer multilevel storage has garnered significant attention in the realm of artificial synapses. On one hand, the resistance change of ferroelectric memristors mainly depends on the polarization reversal. On the other hand, the defects such as oxygen vacancies, which are inevitable presence during high-temperature processes, can undergo diffusion drift with the polarization reversal, thereby change the interface potential barrier.

[Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].

Objective: To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A).

Methods: A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children's Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected.

Pineal cysts may promote pubertal development in girls with central precocious puberty: a single-center study from China.

Introduction: Pineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central precocious puberty (CPP) who have pineal cysts experience rapid progression in adolescent development. In recent years, there has been a significant increase in the prevalence of CPP in girls, leading to more diagnoses of CPP among children with pineal cysts.

Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.

CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. However, understanding of diseases associated with CAPZA2 remains limited. To date, only three cases have been documented with neurodevelopmental abnormalities such as delayed motor development, speech delay, intellectual disability, hypotonia, and a history of seizures.

Sast1-mediated manifold effects inhibit Plutella xylostella fertility.

Background: Plutella xylostella (Linnaeus) is a destructive pest of cruciferous crops due to its strong reproductive capacity and extensive resistance to pesticides. Seminal fluid proteins (SFPs) are the main effective factors that determine the reproductive physiology and behaviour of both sexes. Although an increasing number of SFPs have been identified, the effects of astacins in SFPs on agricultural pests have not yet been reported.

"Triple-synergistic effect" of K and PANI co-intercalation enabling the high-rate capability and stability of VO for aqueous zinc-ion batteries.

Vanadium-based materials are widely recognized as the primary candidate cathode materials for aqueous Zn-ion batteries (AZIBs). However, slow kinetics and poor stability pose significant challenges for widespread application. Herein, to address these issues, alkali metal ions and polyaniline (PANI) are introduced into layered hydrated VO (VO).

High precision of sign language recognition based on InOtransistors gated by AlLiO solid electrolyte.

In recent years, the synaptic properties of transistors have been extensively studied. Compared with liquid or organic material-based transistors, inorganic solid electrolyte-gated transistors have the advantage of better chemical stability. This study uses a simple, low-cost solution technology to prepare InOtransistors gated by AlLiO solid electrolyte.

Nano-Ni/Co-PBA as high-performance cathode material for aqueous sodium-ion batteries.

Prussian blue analogues (PBAs) are reliable and promising cathode materials for aqueous sodium-ion batteries (ASIBs) owing to their open three-dimensional frameworks, outstanding stability, and low production costs. However, PBAs containing only a single type of transition-metal ion often have limited charge-storage capacities in aqueous systems. This study reports the first example of KNiCo[Fe(CN)]·2.

Layered KMnO·0.25HO as cathode material for potassium ion batteries.

Lithium supply shortages have prompted the search for alternatives to widespread grid system applications. Potassium-ion batteries (PIBs) have emerged to promising candidates for this purpose. Nonetheless, the large radius of K(1.

Synthesis of Chiral β,β-Disubstituted Ketones via CuH-Catalyzed Coupling of Aryl Alkenes and 3-Aryl-2-azirines.

A CuH-catalyzed coupling of aryl alkenes with 3-aryl-2-azirines has been developed to synthesize optically active β,β-disubstituted ketones. We propose that this protocol occurs through a sequence in which a chiral alkylcopper complex regioselectively attacks the N-C2 bonds of azirines to generate chiral β-aryl imines, which additionally afford ketones upon hydrolysis. This method provides a novel complementary approach for synthesizing chiral β,β-disubstituted ketones in good yields with high levels of enantioselectivity under mild conditions.

Vitelline Membrane Protein 26 Mutagenesis, Using CRISPR/Cas9, Results in Egg Collapse in .

Vitelline membrane proteins (VMPs) are the main proteins that form the inner shell (vitelline membrane layer) of insect eggs and are an integral part of egg formation and embryo development. Here, we characterized the molecular structure and expression patterns of the gene and analyzed its reproductive functions in diamondback moth, (L.), a worldwide migratory pest of cruciferous plants.

Direct adenylation from 5'-OH-terminated oligonucleotides by a fusion enzyme containing Pfu RNA ligase and T4 polynucleotide kinase.

5'-Adenylated oligonucleotides (AppOligos) are widely used for single-stranded DNA/RNA ligation in next-generation sequencing (NGS) applications such as microRNA (miRNA) profiling. The ligation between an AppOligo adapter and target molecules (such as miRNA) no longer requires ATP, thereby minimizing potential self-ligations and simplifying library preparation procedures. AppOligos can be produced by chemical synthesis or enzymatic modification.

The top-order energy of quasilinear wave equations in two space dimensions is uniformly bounded.

Alinhac solved a long-standing open problem in 2001 and established that quasilinear wave equations in two space dimensions with quadratic null nonlinearities admit global-in-time solutions, provided that the initial data are compactly supported and sufficiently small in Sobolev norm. In this work, Alinhac obtained an upper bound with polynomial growth in time for the top-order energy of the solutions. A natural question then arises whether the time-growth is a true phenomenon, despite the possible conservation of basic energy.

Incorporating Near-Pseudocapacitance Insertion Ni/Co-Based Hexacyanoferrate and Low-Cost Metallic Zn for Aqueous K-Ion Batteries.

The limited availability of cathode materials with high specific capacity and significant cycling stability for aqueous K-ion batteries (AKIBs) hinder their further development owing to the large radius of K (1.38 Å). Prussian blue and its analogs with a three-dimensional frame structure possessing special energy storage mechanism are promising candidates as cathode materials for AKIBs.

Ligand- and Substrate-Controlled Chemodivergent Pd-Catalyzed Annulations of Cyclic β-Keto Esters with 3-Aryl-2-azirines.

Chemodivergent Pd-catalyzed annulations of cyclic β-keto esters with 3-aryl-2-azirines have been developed to provide rapid access to eight-membered ring lactams, bicyclic 3,4-dihydro-2-pyrrole derivatives, and ()-methyl [2-(2-oxocyclohexylidene)-2-phenylethyl]carbamates with high efficiency. The chemoselectivity can be determined by tuning the mono- or bisphosphine ligands as well as the substrate structure of cyclic β-keto esters.

Novel aluminum vanadate as a cathode material for high-performance aqueous zinc-ion batteries.

Rechargeable aqueous zinc-ion batteries (AZIBs) have garnered widespread attention as a new large-scale energy storage candidate owing to their low cost and high theoretical capacity. Because of the unique divalent state of Znand the existence of a strong electrostatic repulsion phenomenon, researchers are currently focusing on how to prepare high-performance cathode materials. In this study, we synthesized aluminum vanadate (AlVO) as a cathode material for AZIBs using a solvothermal method.

MRI recovery of the Achilles tendon after percutaneous tenotomy in older children.

Background: An observational study was conducted to evaluate the recovery of older children with relapsed congenital clubfoot who underwent an Achilles tenotomy for the second time as part of the Ponseti treatment.

Methods: Thirteen patients (19 feet) with congenital clubfoot underwent Achilles tenotomy where magnetic resonance images of the severed tendons were taken after 1, 3, and 6 weeks post-procedure. The participants were categorized into older children who underwent tenotomy for the first time (group A: mean, 4.