Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy.

Menkes disease (MD) is a rare X-linked recessive syndrome that is caused by mutations in the ATP7A gene, which encodes the P-type ATP enzyme. The ATP7A gene encodes 1500 amino acids and is expressed in a number of organs, including the brain, muscles, kidneys and lungs. ATP7A transports copper between cell membranes using energy generated by ATP hydrolysis.

Multilevel perception boundary-guided network for breast lesion segmentation in ultrasound images.

Background: Automatic segmentation of breast tumors from the ultrasound images is essential for the subsequent clinical diagnosis and treatment plan. Although the existing deep learning-based methods have achieved considerable progress in automatic segmentation of breast tumors, their performance on tumors with similar intensity to the normal tissues is still not satisfactory, especially for the tumor boundaries.

Purpose: To accurately segment the non-enhanced lesions with more accurate boundaries, a novel multilevel perception boundary-guided network (PBNet) is proposed to segment breast tumors from ultrasound images.

Anatomy of the Critically-Endangered Anji Salamander (Hynobius amjiensis) Provides New Insights Into Morphological Evolution of Salamanders.

The Anji Salamander (Hynobius amjiensis) is a critically-endangered amphibian endemic to the Tianmushan Mountain area in southeastern China. As most of its congeneric species in the ancestral salamander family Hynobiidae, the osteology of H. amjiensis has remained essentially unknown and has hampered efforts in understanding morphological evolutionary patterns of early salamanders.

Association Between Lung Ultrasound Score and PaO/FiO Ratio in Neonatal Pneumonia: A Prospective Cohort Study.

Objectives: Lung ultrasonography (LUS) is increasingly used to assess pulmonary diseases due to its safety and convenience. This study aimed to find out the association between the LUS score and the PaO/FiO ratio in neonatal pneumonia.

Methods: This study prospectively enrolled 57 neonates with suspected pneumonia.

A Novel Gene DUSP8 Missense Mutation Causes Nonsyndromic Hereditary Gingival Fibromatosis by Dysregulating Lysine Lactylation.

Aims: The goal of this study was to explore new candidate genes and pathogenesis mechanisms of nonsyndromic hereditary gingival fibromatosis (nsHGF) and to provide an experimental basis for the diagnosis of nsHGF.

Methods: Whole-exome sequencing (WES) was performed on peripheral blood DNA from three nsHGF family members to screen for new candidate genes, and Sanger sequencing and related databases were used to verify the pathogenicity of this gene deficiency. Moreover, the effects of gene deficiency on the biological characteristics of human gingival fibroblasts (HGFs) were evaluated via cell proliferation assays, extracellular matrix (ECM) deposition detection, cell apoptosis and cell cycle assessment, cell migration and gene expression analyses.

Application Value of Myocardial Segmental Thickness Variability Measured by Echocardiography in Distinguishing Ischemic and Nonischemic Dilated Cardiomyopathy.

Purpose: The aim of this study is to evaluate the clinical value of myocardial segmental thickness variability (STV) measured by echocardiography in distinguishing ischemic cardiomyopathy (ICM) from nonischemic dilated cardiomyopathy (NIDCM).

Methods: This study included 120 patients diagnosed with dilated cardiomyopathy, divided into ICM (n = 43) and NIDCM (n = 77) groups based on coronary angiography. Traditional echocardiographic parameters, STV, and regional wall motion abnormalities (RWMA) were compared.

GS2 cooperates with IPA1 to control panicle architecture.

Panicle size and grain number are important agronomic traits that determine grain yield in rice. However, the underlying mechanism regulating panicle size and grain number remains largely unknown. Here, we report that GS2 plays an important role in regulating panicle architecture.

Blocking constitutive autophagy rescues the loss of acquired heat resistance in Arabidopsis fes1a.

High temperature is one of several major abiotic stresses that can cause substantial loss of crop yields. Heat shock proteins (HSPs) are key components of heat stress resistance. Mutation of FES1A, an auxiliary molecular chaperone of HSP70, leads to defective acquired thermotolerance.

Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest.

The subcortical maternal complex (SCMC) is crucial for the oocyte-to-embryo transition, and genetic variants in SCMC genes have been associated with early embryonic arrest (EEA). In this study, we performed whole-exome sequencing on 303 independent females with EEA and identified 16 patients with biallelic pathogenic variants in SCMC genes (NLRP2, NLRP5, PADI6, and TLE6), accounting for 5.3% of EEA cases.

Effects of whey protein aggregates with different sizes on the gelatinization and retrogradation behavior of wheat starch.

Background: Starch retrogradation leads to undesirable changes in the texture and taste of starchy foods. The fibrous aggregates of whey protein fibrils (WPF) formed by heating under acidic conditions possess enhanced emulsification and foaming properties, but their effect on the retrogradation behavior of starch is unclear.

Results: WPFs with various molecular sizes were obtained by heating at 85 °C under acidic conditions (pH 2.

Power ultrasound enhanced the flavor quality of tomato juice.

Background: The loss of flavor in modern tomato cultivars represents a great challenge for the food industry. This study investigated the potential of power ultrasound as an innovative approach to improve tomato juice flavor by releasing bound volatiles.

Results: It was found that power ultrasound offered a more viable, environmentally friendly technique for enhancing the aroma of tomato juice compared with enzymatic or acid hydrolysis methods.

A transcription factor SlWRKY71 activated the HS generating enzyme SlDCD1 enhancing the response to Pseudomonas syringae pv DC3000 in tomato leaves.

HS is a well-known gaseous signaling molecule that plays important roles in plant response to biotic stresses. Pseudomonas syringae pv tomato (Pst) could cause enormous loss, while whether HS could modulate plant defense against Pst is still unclear. By CRISPR/Cas9, the Sldcd1 gene editing mutant showed reduced endogenous HS content and attenuated resistance, whereas treatment with exogenous HS could enhance the resistance.

Deacetylation of BAP31 by sirtuin 2 attenuates apoptosis of hepatocytes induced by endoplasmic reticulum stress, in chronic alcoholic liver injury.

Background And Purpose: Endoplasmic reticulum (ER) stress is a crucial pathogenic mechanism in alcoholic liver disease (ALD). B-cell receptor-associated protein 31 (BAP31) can regulate ER homeostasis and anti-apoptosis, but the function and regulation of BAP31 in ALD are unclear. The purpose of this study is to investigate whether BAP31 deacetylation by sirtuin 2 could attenuate ER stress and apoptosis during ALD and to explore whether carnosol could alleviate ALD through the sirtuin 2/BAP31 pathway.

Antecedents of university students' self-leadership: The roles of teacher developmental feedback and student proactive vitality management.

Background: Self-leadership is of significant importance to the growth and development of college students. However, few studies have systematically examined how teachers and college students can work together to cultivate the self-leadership of college students.

Aims: Based on the social cognitive theory, this paper aims to propose and teste a comprehensive model examining the comprehensive influence effects of teacher developmental feedback, student proactive vitality management, and psychological resilience on student self-leadership.

Modeling the Performance of an Anaerobic Moving Bed Biofilm Reactor.

Sub-models representing transformation processes by microorganisms and hydrolases, a one-dimensional (1-D) biofilm, and a bioreactor were integrated to simulate organic-matter fermentation and methane (CH) production in an anaerobic moving bed biofilm reactor (AnMBBR). The integrated models correctly represented all experimental observations and identified mechanisms underlying how and why AnMBBR performance changed when the volumetric loading rate (VLR) of total chemical oxygen demand (TCOD) increased from 3.9 to 19.

Impact of Varying Velocities and Solvation Boxes on Alchemical Free-Energy Simulations.

Alchemical free-energy perturbation (FEP) is an accurate and thermodynamically stringent way to estimate relative energies for the binding of small ligands to biological macromolecules. It has repeatedly been pointed out that a single simulation normally stays near the starting point in phase space and therefore underestimates the uncertainty of the results. Therefore, it is better to run an ensemble of independent simulations.

Forty-Year Time Series of Anthropogenic Uranium in from Kattegat: Validating U Releases from European Nuclear Reprocessing Plants.

An accurate input function of uranium-236 (U) is essential for its numerous applications in environmental and ocean studies. This work reveals potential overestimation on U releases from the Sellafield (SF) nuclear reprocessing plant (RP) by earlier estimations using shells. We report a 40-year time series dataset of uranium isotopes in seaweed seasonally collected in the Kattegat, downstream of radioactive discharges from the European RPs, namely La Hague (LH) and SF.

Ultrafast Li-Rich Transport in Composite Solid-State Electrolytes.

Solid-state lithium (Li) metal batteries (SSLMBs) have garnered considerable attention due to their potential for high energy density and intrinsic safety. However, their widespread development has been hindered by the low ionic conductivity of solid-state electrolytes. In this contribution, a novel Li-rich transport mechanism is proposed to achieve ultrafast Li-ion conduction in composite solid-state electrolytes.

Novel Bioorthogonal Theranostic Scaffold Enables on-Target Drug Release and Real Time Monitoring In Vivo.

Bioorthogonal chemistry-based prodrug strategy features spatiotemporally controlled release of therapeutic agent and/or imaging probe. However, the integration of diagnosis and therapy into a single molecule paired with a single bioorthogonal trigger remains a challenge. In this study, we devised a novel bioorthogonal theranostic scaffold amenable to the conjugation of various targeting agent and click-to-release reaction with the bioorthogonal prodrug to enable targeted drug liberation with concomitant fluorescence emission.

A fiber-shaped ultrasonic transducer by designing a flexible epoxy/nano-zirconia composite as an acoustic matching layer.

Acoustic matching layers play an important role in ultrasonic transducers. However, the acoustic matching layer with both intrinsic flexibility and high acoustic impedance remains an unmet need to achieve high-performing flexible ultrasonic transducers. Herein, we present an epoxy/nano-zirconia composite with excellent flexibility and acoustic performance by the chemical coupling method.

Light and Carrier Transportation Management in Transparent Electrode for Achieving over 30% Efficiency Perovskite/Silicon Tandem Solar Cells.

Perovskite/silicon tandem solar cells have drawn widespread attention owing to their higher power conversion efficiency (PCE). However, reducing the reflection and parasitic absorption as much as possible in the transparent electrode is of considerable interest to promote the tandem device to obtain higher circuit current density (). Furthermore, the carrier vertical and lateral transport capability of transparent electrodes also affects the electrical performance of solar cells.

Effectiveness of a Pharmacist-Led Intervention to Reduce Acid Suppression Therapy for Stress Ulcer Prophylaxis in ICUs in China: A Multicenter, Stepped-Wedge, Cluster-Randomized Controlled Trial.

Objectives: This study aimed to evaluate the effectiveness of a pharmacist-led intervention in decreasing the overuse of stress ulcer prophylaxis (SUP) compared with the usual care for adult patients in Chinese ICUs.

Design: Pragmatic, multicenter, stepped-wedge, cluster-randomized controlled trial.

Setting: Twenty-six ICUs in China from October 2022 to March 2023.

Effects of heavy metal accumulation mediated by floral rewards on key stages of growth and development of bumblebees (Bombus terrestris L.).

Whether soil heavy metal pollution contributes to the decline in pollinator populations remains inconclusive. Based on the detection of heavy metals in the nectar, pollen, and bodies of pollinating insects in areas affected by heavy metal pollution, this study aimed to investigate the impact of adding four heavy metals-zinc (Zn), lead (Pb), copper (Cu), and nickel (Ni)-at realistic concentrations to the diet on the pre-oviposition period, larval development period, production of adult bees, and weight of worker bees. The study sought to evaluate the influence of heavy metal accumulation mediated by floral rewards on key stages of growth and development of bumblebee (Bombus terrestris L.

Assessment of responses of cultured benthic foraminiferal communities to copper pollution through environmental RNA metabarcoding analysis.

Copper (Cu) is an essential trace element and can accumulate in sedimentary environments. However, beyond a certain concentration threshold, Cu can pose toxicity risks to biota. Benthic foraminifera are widely distributed and exhibit characteristics such as high biodiversity, short life cycle, good preservation potential, and high pollutant sensitivity, making them good bioindicators.