Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.

Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.

Evaluation of the Effect of Adipokinetic Hormone/Corazonin-Related Peptide (ACP) on Ovarian Development in the Mud Crab, .

In this study, we identified and its putative receptor from the mud crab and explored its potential role in ovarian development. RT-PCR results suggested was extensively expressed in nervous tissues, the ovary, the middle gut, and the Y-organ, while was highly expressed in the ovary. The expression level of in the ovary, eyestalk, and cerebral ganglia gradually increased during ovarian development, whereas its receptor exhibited an opposite expression pattern in the ovary.

HIV Pre-Exposure Prophylaxis Cascade Stages Among Men Who Have Sex With Men With Sexually Transmitted Infections in China: Multicenter Cross-Sectional Survey Study.

Background: There is limited literature available regarding the knowledge and use of HIV pre-exposure prophylaxis (PrEP) among men who have sex with men (MSM) with sexually transmitted infections (STIs).

Objective: This study's objective was to explore the HIV PrEP cascade stages (knowledge, willingness to use, and use) among MSM with STIs in China, in order to promote the implementation of PrEP in this population.

Methods: A cross-sectional study was conducted using a respondent-driven sampling method in 19 cities in China, from January to August 2022.

Neohesperidin Improves Depressive-Like Behavior Induced by Chronic Unpredictable Mild Stress in Mice.

Depression is a common and complex neuropsychiatric disorder affecting people of all ages worldwide, associated with high rates of relapse and disability. Neohesperidin (NEO) is a dietary flavonoid with applications in therapeutics; however, its effects on depressive-like behavior remain unknown. Here, we evaluated the effects of NEO on depressive-like behavior induced by chronic and unpredictable mild stress (CUMS).

Intermittent social isolation enhances social investigation but impairs social memory in adult male mice.

Social isolation profoundly impacts motivated behavior and neural plasticity. While the effects of acute and chronic social isolation have been extensively studied, the consequences of intermittent isolation during adulthood, particularly relevant to modern lifestyles, remain poorly understood. This study investigated the impact of intermittent social isolation (ISI) on social behavior and brain activation in adult male mice.

Neuroligin 1 Regulates Autistic-Like Repetitive Behavior through Modulating the Activity of Striatal D2 Receptor-Expressing Medium Spiny Neurons.

Restricted and repetitive behavior (RRB) is a primary symptom of autism spectrum disorder (ASD), which poses a significant risk to individuals' health and is becoming increasingly prevalent. However, the specific cellular and neural circuit mechanisms underlying the generation of RRB remain unclear. In this study, it is reported that the absence of the ASD-related protein Neuroligin 1 (NLGN1) in dopamine receptor D2-expressing medium spiny neurons (D2-MSNs) in the dorsal striatum is associated with the duration and frequency of self-grooming and digging behaviors.

Asymmetric Structural MXene/PBO Aerogels for High-Performance Electromagnetic Interference Shielding with Ultra-Low Reflection.

Electromagnetic interference (EMI) shielding materials with low electromagnetic (EM) waves reflection characteristics are ideal materials for blocking EM radiation and pollution. Materials with low reflectivity must be constructed using materials with excellent EM waves absorption properties. However, materials simultaneously possessing both low reflectivity and excellent EMI shielding performance remain scarce, consequently, multilayer structures need to be developed.

Characteristics of heterotrophic endophytic bacteria in four kinds of edible raw vegetables: species distribution, antibiotic resistance, and related genes.

This study aimed to explore antibiotic resistance characteristics and species of heterotrophic endophytic bacteria (HEB) in four kinds of edible raw vegetables, including radishes, lettuces, onions, and tomatoes. A total of 144 HEB were isolated and tested for resistance to sulfamethoxazole (SMZ), tetracycline (TET), cefotaxime (CTX), and ciprofloxacin (CIP), and their species were identified by 16S rRNA gene sequencing. Antibiotic resistance genes (ARGs) and class I integron in antibiotic-resistant isolates were analyzed by polymerase chain reaction.

A Single-Cell Atlas of Crab Ovary Provides New Insights Into Oogenesis in Crustaceans.

Oogenesis is crucial for sexual reproduction and provides the material basis for population continuation. Nonetheless, the identity of the cells involved, the nature of transformation, and underlying regulators of oogenesis in crustaceans remain elusive. Here, an atlas of the ovary is plotted via single-nuclei RNA sequencing (snRNA-seq) in the mud crab Scylla paramamosain, resulting in five cell types, including germ cells, somatic cells, and three follicle cell types identified, which in turn provides abundant candidate markers for them.

A Neural Circuit For Bergamot Essential Oil-Induced Anxiolytic Effects.

Aromatic essential oils have been shown to relieve anxiety and enhance relaxation, although the neural circuits underlying these effects have remained unknown. Here, it is found that treatment with 1.0% bergamot essential oil (BEO) exerts anxiolytic-like effects through a neural circuit projecting from the anterior olfactory nucleus (AON) to the anterior cingulate cortex (ACC) in acute restraint stress model mice.

Qingxin Jieyu Granule alleviates myocardial infarction through inhibiting neutrophil extracellular traps via activating ANXA1/FPR2 axis.

Background: Myocardial infarction (MI), representing the most severe manifestation of coronary artery disease (CAD), stands as a primary concern in the prevention and management of cardiovascular diseases. Clinical evidence demonstrates that Qingxin Jieyu Granule (QXJYG) is efficacious in treatment of MI patients. However, the mechanisms underlying its therapeutic effects remain to be elucidated.

Effect of flexible cystoscopy combined with flexible ureteroscopy on short-term outcomes in patients with complex renal stones.

Objective: To investigate the short-term efficacy of combining flexible cystoscopy with flexible ureteroscopy in the treatment of complex renal stones.

Methods: The medical records of 145 patients with complex renal stones admitted to Yan'an People's Hospital from February 2020 to February 2022 were retrospectively analyzed. Among these, 65 patients treated with flexible ureteroscopy alone constituted the control group.

Astrocytic neuroligin 3 regulates social memory and synaptic plasticity through adenosine signaling in male mice.

Social memory impairment is a key symptom of many brain disorders, but its underlying mechanisms remain unclear. Neuroligins (NLGs) are a family of cell adhesion molecules essential for synapse development and function and their dysfunctions are linked to neurodevelopmental and neuropsychiatric disorders, including autism and schizophrenia. Although NLGs are extensively studied in neurons, their role in glial cells is poorly understood.

Characterization and Molecular Engineering of a -Methyltransferase from Edible Leaves Involved in Nuciferine Biosynthesis.

Lotus leaf, traditionally used as both edible tea and herbal medicine in Asia, contains nuciferine, a lipid-lowering and weight-loss compoud. The biosynthetic pathways of nuciferine in remain unclear. We characterized a specific -methyltransferase, NnNMT, which had a novel function and catalyzed only nuciferine synthesis from the aporphine-type alkaloid -nornuciferine.

Ultratrace Uranium Removal by Covalent Organic Frameworks on an In-Situ-Decorated Sponge as Integral Materials.

Herein, a sulfonated covalent organic framework (COF-SOH) is prepared in situ on melamine sponge (MS) to produce MS@COF-SOH as integral materials by a one-pot synthesis in water at room temperature, for facile deep removal of trace uranium-containing wastewater. The -SOH on the COFs is able to form complexation with UO through strong coordination interactions, and MS@COF-SOH is therefore highly selective for UO ( = 52603 mL g). The adsorption efficiency of MS@COF-SOH-3 can reach 97.

CT-Guided Online Adaptive Radiotherapy Delivered via Personalized Ultrafractionated Stereotactic Adaptive Radiotherapy (PULSAR) for a Bulky Thoracic and Abdominal Mass in Oligometastatic Renal Cell Carcinoma.

In the context of oligometastatic renal cell carcinoma (RCC), local treatment with stereotactic body radiotherapy (SBRT) may improve oncologic outcomes. However, the location and size can often pose a technical challenge in standard SBRT delivery, and the dose is potentially limited by nearby organs at risk (OARs). Online adaptive radiotherapy (oART) improves radiation delivery by personalizing high-dose fractions to account for daily stochastic variations in patient anatomy or setup.

Feasibility of Biology-guided Radiotherapy (BgRT) Targeting Fluorodeoxyglucose (FDG) avid liver metastases.

Introduction: Biology-guided radiotherapy (BgRT) is a novel radiation delivery approach utilizing fluorodeoxyglucose (FDG) activity on positron emission tomography (PET) imaging performed in real-time to track and direct RT. Our institution recently acquired the RefleXion X1 BgRT system and sought to assess the feasibility of targeting metastatic sites in various organs, including the liver. However, in order for BgRT to function appropriate, adequate contrast in FDG activity between the tumor and the background tissue, referred to as the normalized SUV (NSUV), is necessary for optimal functioning of BgRT.

Use of Personalized Ultra-Fractionated Stereotactic Adaptive Radiotherapy for Oligometastatic Lung Adenocarcinoma: Leveraging CT-Guided Online Adaptive Radiotherapy.

Management of oligometastatic non-small cell lung cancer (OM-NSCLC) has changed considerably in recent years, as these patients were found to have better survival with systemic therapy followed by consolidative radiation. Stereotactic body radiotherapy (SBRT), characterized by high doses of radiation delivered in a limited number of fractions, has been shown to have improved local control compared to conventionally fractionated radiation in early-stage lung cancer, but its use in large tumors, ultra-central tumors, or mediastinal nodal regions is limited due to concerns of toxicity to nearby serial mediastinal structures. Recent improvements in image guidance and fast replanning allow adaptive radiotherapy to be used to personalize treatment to the patient's daily anatomy and ensure accurate dose delivery to the tumor while minimizing dose and toxicity to normal.

Activation of GPR30 Ameliorates Cerebral Ischemia-Reperfusion Injury by Suppressing Ferroptosis Through Nrf2/GPX4 Signaling Pathway.

The newly identified estrogen receptor, G protein-coupled receptor 30 (GPR30), is prevalent in the brain and has been shown to provide significant neuroprotection. Recent studies have linked ferroptosis, a newly characterized form of programmed cell death, closely with cerebral ischemia-reperfusion injury (CIRI), highlighting it as a major contributing factor. Consequently, our research aimed to explore the potential of GPR30 targeting in controlling neuronal ferroptosis and lessening CIRI impacts.

A Social Stimulation Paradigm to Ameliorate Memory Deficit in Alzheimer's Disease.

Alzheimer's disease (AD) poses a global health threat, progressively robbing patients of their memory and cognitive abilities. While it is recognized that meaningful social contact can alleviate the symptoms of dementia in AD patients, the precise mechanisms by which social stimulation mitigates AD symptoms remain poorly understood. We found that social interaction with novel mice, also known as novel social, simulated meaningful socializing.

Characterising polycyclic aromatic hydrocarbons in road dusts and stormwater in urban environments.

The presence of polycyclic aromatic hydrocarbons (PAHs) pollution on urban road surfaces is one of the major environmental concerns. However, knowledge on the distribution variability of PAHs in road dusts (RDS) and stormwater is limited, which would restrict the further risk evaluation and mitigation implementation of PAHs in road stormwater runoff. This study collected RDS samples and stormwater samples on fourteen urban roads in Shenzhen, China.

Effectiveness of onsite and online education in enhancing knowledge and use of human immunodeficiency virus pre- and post-exposure prophylaxis.

Background: Enhancing awareness and use of pre-exposure prophylaxis (PrEP) and post-exposure prophylaxis (PEP) is vital to curb human immunodeficiency virus (HIV) spread. High-risk behaviors prevalent among sexually transmitted infection clinic outpatients underscore the need for increased PrEP/PEP education in this group.

Aim: To investigate the effects of both onsite and online health education on the knowledge of, and willingness to use, PrEP and PEP among individuals receiving PEP services.