Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.

EP400 encodes a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes. The gene-disease association of EP400 is undetermined. In this study, we performed trio-based whole-exome sequencing in a cohort of 402 families with epilepsy and neurodevelopmental disorders (NDDs) and identified compound heterozygous EP400 variants in six unrelated individuals.

Local and Noninvasive Glyco-Virus Checkpoint Nanoblockades Restrict Sialylation for Prolonged Broad-Spectrum Epidemic Virus Therapy.

The coronavirus disease 2019 (COVID-19) pandemic has driven major advances in virus research. The role of glycans in viral infection has been revealed, with research demonstrating that terminal sialic acids are key receptors during viral attachment and infection into host cells. However, there is an urgent demand for universal tools to study the mechanism of sialic acids in viral infections, as well as to develop therapeutic agents against epidemic viruses through the downregulation of terminal sialic acid residues on glycans acting as a glyco-virus checkpoint to accelerate virus clearance.

1-(2'-Hydroxy-2'-Methylpropionyl)Glycoside as a Versatile Glycosyl Donor for O-/C-Glycosylation.

Herein, we developed a Lewis acid-mediated O-glycosylation and C-glycosylation protocol using stable glycosyl 2'-hydroxy-2'-methylpropionates as donors. These glycosylation reactions reached completion within 1 h at room temperature. The practicality of this protocol is characterized by their straightforward operation and efficient applicability to various substrates, including both disarmed and armed glycosyl donors, through the remote activation of easily accessible TMSOTf.

CCDC22 variants caused X-linked focal epilepsy and focal cortical dysplasia.

Background: The CCDC22 gene plays vital roles in regulating the NF-κB pathway, an essential pathway for neuroinflammation, neurodevelopment, and epileptogenesis. Previously, variants in CCDC22 were reported to be associated with intellectual disability. This study aimed to explore the association between CCDC22 and epilepsy.

[NO Emission Factors from Wastewater Treatment Plants Based on Literature Statistics and Model Fitting].

The emission of nitrous oxide （NO） during wastewater treatment cannot be ignored. The analysis of statistical data from literature based on 126 empirical studies revealed that the geographical factors of wastewater treatment plants （WWTPs） had a significant impact on NO emission factors. However, the NO emission factors of WWTPs in all regions of the world were generally lower than the Intergovernmental Panel on Climate Change （IPCC） recommended values.

A 4D-Printable Photocurable Resin Derived from Waste Cooking Oil with Enhanced Tensile Strength.

In pursuit of enhancing the mechanical properties, especially the tensile strength, of 4D-printable consumables derived from waste cooking oil (WCO), we initiated the production of acrylate-modified WCO, which encompasses epoxy waste oil methacrylate (EWOMA) and epoxy waste oil acrylate (EWOA). Subsequently, a series of WCO-based 4D-printable photocurable resins were obtained by introducing a suitable diacrylate molecule as the second monomer, coupled with a composite photoinitiator system comprising Irgacure 819 and p-dimethylaminobenzaldehyde (DMAB). These materials were amenable to molding using an LCD light-curing 3D printer.

Autonomous enzymatic synthesis of functional nucleic acids for sensitive measurement of long noncoding RNA in human lung tissues.

Aberrant long noncoding RNA (lncRNA) expression is linked to varied pathological processes and malignant tumors, and lncRNA can serve as potential disease biomarkers. Herein, we demonstrate the autonomous enzymatic synthesis of functional nucleic acids for sensitive measurement of lncRNA in human lung tissues on the basis of multiple primer generation-mediated rolling circle amplification (mPG-RCA). This assay involves two padlock probes that act as both a detection probe for recognizing target lncRNA and a domain for producing complementary DNAzyme.

Photosensitizer-free visible-light-promoted glycosylation enabled by 2-glycosyloxy tropone donors.

Photochemical glycosylation has attracted considerable attention in carbohydrate chemistry. However, to the best of our knowledge, visible-light-promoted glycosylation via photoactive glycosyl donor has not been reported. In the study, we report a photosensitizer-free visible-light-mediated glycosylation approach using a photoactive 2-glycosyloxy tropone as the donor.

A real-world case-control study on the efficacy and safety of pulsed field ablation for atrial fibrillation.

Objective: The primary objective of this study was to evaluate the efficacy and safety of pulsed field ablation in individuals diagnosed with atrial fibrillation.

Methods: A total of 36 patients diagnosed with atrial fibrillation were enrolled in the pulsed field ablation group, while another 36 patients diagnosed with atrial fibrillation were included in the radiofrequency ablation group. Among the study participants, 15 patients in the pulsed field ablation group and 17 patients in the radiofrequency ablation group had persistent atrial fibrillation.

Self-Assembled Core-Shell Nanoscale Coordination Polymer Nanoparticles Carrying a Sialyltransferase Inhibitor for Cancer Metastasis Inhibition.

Despite hypersialylation of cancer cells together with a significant upregulation of sialyltransferase (ST) activity contributes to the metastatic cascade at multiple levels, there are few dedicated tools to interfere with their expression. Although transition state-based ST inhibitors are well-established, they are not membrane permeable. To tackle this problem, herein, we design and construct long-circulating, self-assembled core-shell nanoscale coordination polymer (NCP) nanoparticles carrying a transition state-based ST inhibitor, which make the inhibitor transmembrane and potently strip diverse sialoglycans from various cancer cells.

Fatty acid wax from epoxidation and hydrolysis treatments of waste cooking oil: synthesis and properties.

To provide low-cost wax and a new methodology for utilizing waste cooking oil (WCO), fatty acid wax based on WCO was synthesized by using epoxidation and hydrolysis treatments, whose properties included melting point, color, hardness, combustion properties, aldehyde content, and microscopic morphology were tested and analyzed. The obtained WCO-based wax contained mixed fatty acids, including palmitic acid and 9,10-dihydroxystearic acid as main constituents, which could form a 3D stable crossing network constructed by large long-rod crystals. The WCO-based wax with high fatty acid content (96.

Iterative Synthesis of 2-Deoxyoligosaccharides Enabled by Stereoselective Visible-Light-Promoted Glycosylation.

The photoinitiated intramolecular hydroetherification of alkenols has been used to form C-O bonds, but the intermolecular hydroetherification of alkenes with alcohols remains an unsolved challenge. We herein report the visible-light-promoted 2-deoxyglycosylation of alcohols with glycals. The glycosylation reaction was completed within 2 min in a high quantum yield (ϕ=28.

[Analysis of Clinical Characteristics of JAK2 V617F and BCR-ABL Double-Mutant Myeloproliferative Neoplasms].

Objective: To analyze the disease types, clinical manifestations, efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant myeloproliferative neoplasms (MPN), and provide a reference for the diagnosis, treatment and prognosis of MPN.

Methods: The clinical characteristics, diagnosis, therapeutic efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant MPN were analyzed comprehensitively by combining a clinical case diagnosed and treated in our hospital with literature cases from CNKI and PubMed databases.

Results: A total of 38 related literatures were retrieved from the two databases by searching "JAK2 V617F" and "BCR-ABL" as key words from 1990 to 2019, and 59 cases were involved.

Development of a Micro/Nano Probing System Using Double Elastic Mechanisms.

To meet the requirement of high precision measurement of coordinate measurement machine system, a compact microprobe has been designed for 3D measurement in this paper. Aiming to reduce the influences of signal coupling during the probing process, the probe has been designed by adopting two elastic mechanisms, in which the horizontal and vertical motions of the probe tip can be separated by differential signals of quadrant photodetectors in each elastic mechanism. A connecting rod has been designed to transfer the displacement of the probe tip in vertical direction from lower to upper elastic mechanisms.

All-trans retinoic acid enhances cytotoxicity of CIK cells against human lung adenocarcinoma by upregulating MICA and IL-2 secretion.

To determine the growth inhibition capability of all-trans retinoic acid (ATRA) with cytokine-induced killer cells (CIKs), we evaluated their effects, alone and in combination, on human lung carcinoma A549 cells. CIKs treated with ATRA significantly inhibited cell growth. Additionally, CIK with ATRA synergistically inhibited migration and invasiveness, colony formation of A549 and NCI-H520 cells.

[Impact of maternal genetic effect on genetic parameter estimation of production traits for Qinghai fine-wool sheep].

The maternal genetic effects on estimating genetic parameters for growth traits and wool traits of Qinghai fine-wool sheep were investigated.The genetic parameters for production traits of Qinghai fine-wool sheep were estimated by average information restricted maximum likelihood (AIREML) with different animal models, and the differences between different animal models were tested by likelihood ratio test. Fixed effects, direct genetic effects, and residual effects were included all models; and random effects were individual permanence environmental effects, maternal genetic effects, and maternal permanence environmental effects.