Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China.

Congenital chloride diarrhea (CCD) is an autosomal recessive disease, characterized by watery diarrhea, hypochloremia and metabolic alkalosis. It is associated with defects in solute carrier family 26 member 3 (SLC26A3) which acts as Na-independent Cl/HCO exchanger. Early diagnosis allows planning of perinatal care and timely treatment to improve the prognosis of CCD.

LeScore: a scoring function incorporating hydrogen bonding penalty for protein-ligand docking.

Context: Molecular docking is vital for structure-based virtual screening and heavily depends on accurate and robust scoring functions. Scoring functions often inadequately account for the breakage of solvent hydrogen bonds, hindering the accuracy of predicting binding energy. Here, we introduce LeScore, a novel scoring function that specifically incorporates the hydrogen bonding penalty (HBP) in an aqueous environment, aiming to penalize unfavorable polar interactions when hydrogen bonds with water are broken but the energy loss is not fully compensated by newly formed protein-ligand interactions.

Increase Docking Score Screening Power by Simple Fusion With CNNscore.

Scoring functions (SFs) of molecular docking is a vital component of structure-based virtual screening (SBVS). Traditional SFs yield their inherent shortage for idealized approximations and simplifications predicting the binding affinity. Complementarily, SFs based on deep learning (DL) have emerged as powerful tools for capturing intricate features within protein-ligand (PL) interactions.

Isorhamnetin Alleviates Inflammation-Induced Crosstalk between Kynurenine Pathway and Gut Microbiota in Depressed Mice.

Depression is a widespread psychiatric disorder with complex pathogenesis and unsatisfactory therapeutic effects. As a native flavonoid, Isorhamnetin (ISO) has been deemed to exert neuroprotective effects by antioxidation and regulation of immunity. However, no reports of anti-depressed effect of ISO have yet been found.

The reference ranges for fetal ductus venosus flow velocities and calculated waveform indices and their predictive values for right heart diseases.

Objectives: This study endeavors to establish comprehensive normal reference ranges and Z score formulas for ductus venosus (DV) flow velocity parameters and calculated waveform indices across different gestational ages in low-risk fetuses. Furthermore, we aim to validate the predictive capabilities of these Z score calculation formulas in fetuses with diverse right heart diseases.

Methods: 8,953 singleton low-risk fetuses and 70 fetuses diagnosed with different types of right heart diseases were retrospectively enrolled.

Contribution of Phosphorylation Modification to Stability and Antibacterial Activity of Egg White Protein Nanogels Loaded with Cinnamon Bark Essential Oil.

This study evaluated the potential usage of phosphorylated egg white protein (P-EWP) nanogels fabricated via microwave-induced phosphorylation modification and gel process and further ultrasonic nanometrization as novel delivery systems for cinnamon bark essential oil (CBEO). Compared to EWP-CBEO nanogels without chemical phosphorylation, the obtained P-EWP-CBEO nanogels have shown smaller average hydrodynamic diameter (133.6 nm), relatively uniform size distribution (polydispersity index around 0.

Diluting Ionic Liquids with Small Functional Molecules of Polypropylene Carbonate to Boost the Photovoltaic Performance of Perovskite Solar Cells.

It is necessary to overcome the relatively low conductivity of ionic liquids (ILs) caused by steric hindrance effects to improve their ability to passivate defects and inhibit ion migration to boost the photovoltaic performance of perovskite solar cells (PSCs). Herein, we designed and prepared a kind of low-concentration 1-butyl-3-methylimidazolium tetrafluoroborate (BMIMBF) diluted with propylene carbonate (PC) via an ultrasonic technique (PC/IL). The decrease in the decomposition temperature related to the IL part and the increase in the sublimation temperature related to the PC part facilitated the use of PC/IL to effectively delay the crystallization process and passivate the defects in multiple ways to obtain high-quality perovskite films.

Effect of Nitrogen Fertilizer on the Rhizosphere and Endosphere Bacterial Communities of Rice at Different Growth Stages.

This study aimed to investigate the impact of nitrogen (N) fertilizer on bacterial community composition and diversity in the rhizosphere and endosphere of rice at different growth stages. Two treatments, N0 (no N application) and N1 (270 kg N ha), were implemented, with samples collected during the jointing, tasseling, and maturity stages. High-throughput sequencing was used to analyze the structure and composition of bacterial communities associated with Huaidao No.

Probing the Effects of Multisite Mutations in the Lipoic Acid Region of the BCOADC-E2 Protein.

Primary biliary cholangitis (PBC) is a chronic disease, the prevalence of which has been increasing in recent years. And the prevalence of patients who test negative with existing diagnostic techniques remains high. It was found that the antigenic BCOADC-E2 protein could detect patients with a negative original test.

The incidence and risk factors of fetuses with mirror-image dextrocardia with solitus inversus.

Objective: This research seeks to ascertain the prevalence and determinants of mirror-image dextrocardia in fetuses.

Study Design: With December 2022 as the reference point, we compiled colleted data on pregnant women who carried fetuses with mirror-image dextrocardia in Xi'an, Shaanxi Province: September-October 2022, November 2022, and December 2022-January 2023. An online questionnaire was distributed to 209 pregnant across China who had contracted COVID-19.

Mandarin Fish Ranavirus (MRV) Infection Induced Inflammation and Histologic Lesions in the Gut of Mandarin Fish.

Mandarin fish ranavirus (MRV) is widely spread in China and causes huge economic losses to the mandarin fish (Siniperca chuatsi) aquaculture. However, the pathogenesis of MRV is still unclear. In the present study, mandarin fish were artificially infected with MRV, and then different gut compartments from diseased fish were subjected to histologic analysis by H&E staining, quantification of proinflammatory genes and MRV copies by qPCR.

Discovery of Daclatasvir as a potential PD-L1 inhibitor from drug repurposing.

This study employed a drug repositioning strategy to discover novel PD-L1 small molecule inhibitors. 3D-QSAR pharmacophore models were establishedand subsequently validated through various means to select a robust model, Hypo-1, suitable for virtual screening. Hypo1 was used toscreen a library of 7,475 compounds from the Drugbank database, leading to the identification of 283 molecules following molecular docking with PD-L1.

[Construction strategy of stimuli-responsive liposome and its biological application].

Stimuli-responsive liposomes, a novel type of nanocarriers, have been widely used in the fields of medicine, food, and cosmetics. This paper provides a comprehensive introduction to the preparation methods, construction strategies, and biological applications of stimuli-responsive liposomes. The review highlights the functional principles of pH-sensitive, redox-sensitive, enzyme-sensitive, heat-sensitive, light-sensitive, and magnetic field-responsive liposomes, and summarizes their applications based on various drug delivery mode.

Morphological Transformation and Surface Engineering of Glycovesicles Driven by Bioinspired Hydrogen Bonds of Nucleobases.

Glycopolymer-based supramolecular glycoassemblies with signal-driven cascade morphological deformation and accessible surface engineering toward bioinspired functional glycomaterials have attracted much attention due to their diverse applications in fundamental and practical scenarios. Herein, we achieved the cascade morphological transformation and surface engineering of a nucleobase-containing polymeric glycovesicle through exploiting the bioinspired complementary multiple hydrogen bonds of complementary nucleobases. First, the synthesized thymine-containing glycopolymers (PGal--PTAm) are capable of self-assembling into well-defined glycovesicles.

The three-dimensional culture of L929 and C2C12 cells based on SPI-SA interpenetrating network hydrogel scaffold with excellent mechanical properties.

Cell-cultured meat, which is obtained by adsorbing cells on the three-dimensional scaffold, is considered a potential solution to animal welfare issues. Edible and safe cell-cultured meat scaffolds are a key part of its research. Soy protein isolate (SPI) hydrogel has a three-dimensional network structure and has been studied for L929 cell culture because of its non-toxicity and biocompatibility.

Construction Strategy of Functionalized Liposomes and Multidimensional Application.

Liposomes are widely used in the biological field due to their good biocompatibility and surface modification properties. With the development of biochemistry and material science, many liposome structures and their surface functional components have been modified and optimized one by one, pushing the liposome platform from traditional to functionalized and intelligent, which will better satisfy and expand the needs of scientific research. However, a main limiting factor effecting the efficiency of liposomes is the complicated environmental conditions in the living body.

Physiological and transcriptomic analyses reveal that phytohormone pathways and glutathione metabolism are involved in the arsenite toxicity response in tomatoes.

The main forms of inorganic arsenic (As) in soil are arsenate [As(V)] and arsenite [As(III)]. Both forms inhibit plant growth. Here, we investigate the effects of As(III) toxicity on the growth of tomatoes by integrating physiological and transcriptomic analyses.

The Efficacy Mechanism of Epigallocatechin Gallate against Pre-Eclampsia based on Network Pharmacology and Molecular Docking.

Pre-eclampsia (PE), a pregnancy complication, affects 3-5% of all pregnancies worldwide and is the main cause of maternal and perinatal morbidity. However, there is no drug which can clearly slow this disease progression. Epigallocatechin gallate (EGCG), a natural compound extracted from green tea, has been found to enhance the treatment efficacy of oral nifedipine against pregnancy-induced severe PE.

C1q/TNF-Related Protein 9 Inhibits Coxsackievirus B3-Induced Injury in Cardiomyocytes through NF-B and TGF-1/Smad2/3 by Modulating THBS1.

C1q/TNF-related protein 9 (CTRP9) is implicated in diverse cardiovascular diseases, but its role in viral myocarditis (VMC) is not well explored. This study is aimed at investigating the role and potential mechanism of CTRP9 in VMC. Herein, we found that the peripheral blood collected from children with VMC had lower CTRP9 levels than that from children who had recovered from VMC.

The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia.

Aims: We report clinical and molecular analysis of an infant presenting with foetal bradycardia and clinical outcome of Jervell and Lange-Nielsen syndrome (JLNS).

Methods And Results: Clinical, electrocardiogram (ECG), and echocardiographic data were collected from members in a three-generation family. Whole exomes were amplified and sequenced for proband.

Diagnostic Value of Two-Dimensional plus Four-Dimensional Ultrasonography in Fetal Craniocerebral Anomalies.

Background: To assess the clinical value of two-dimensional (2D) plus four-dimensional (4D) ultrasonography in diagnosis of fetal craniocerebral anomalies.

Methods: Retrospective analysis was performed on the sonographic features of 83 maternity patients admitted to Northwest Women's and Children's Hospital, Xian China from January 2013 to December 2017 diagnosed with suspected fetal anomalies of the brain and skull through 2D and 4D ultrasonography.

Results: Fifty six patients were diagnosed with the anomalies by 2D ultrasonography only, 65 patients by 4D ultrasonography only, and 74 patients by 2D plus 4D ultrasonography.

Oestrogen inhibits PTPRO to prevent the apoptosis of renal podocytes.

Podocytes are a major component of the glomerular filtration membrane, and their apoptosis is involved in a variety of nephrotic syndromes. In the current study, the effects and molecular mechanisms of oestrogen on the proliferation and apoptosis of podocytes were investigated to elucidate the role of oestrogen in the pathogenesis of childhood nephrotic syndrome. The cell proliferation of mouse renal podocytes (MPC-5) and human primary renal podocytes was promoted by 17β-oestradiol (E2) in what appear to be a time-dependent manner.