A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism.

This paper reports a case of a WDR45 variant inherited from an asymptomatic low-percentage mosaic mother. The proband boy was found to have significant psychomotor developmental delay, epilepsy, and abnormal liver function at four months of age, and a hemizygous variant WDR45 c.867_869dupGTA (p.

Integration of Radiomics and Immune-Related Genes Signatures for Predicting Axillary Lymph Node Metastasis in Breast Cancer.

Background: To develop a radiogenomics nomogram for predicting axillary lymph node (ALN) metastasis in breast cancer and reveal underlying associations between radiomics features and biological pathways.

Materials And Methods: This study included 1062 breast cancer patients, 90 patients with both DCE-MRI and gene expression data. The optimal immune-related genes and radiomics features associated with ALN metastasis were firstly calculated, and corresponding feature signatures were constructed to further validate their performances in predicting ALN metastasis.

Abnormal Global Cortical Responses in Drug-Naïve Patients With Schizophrenia Following Orbitofrontal Cortex Stimulation: A Concurrent Transcranial Magnetic Stimulation-Electroencephalography Study.

Background: Abnormalities in cortical excitability and plasticity have been considered to underlie the pathophysiology of schizophrenia. Transcranial magnetic stimulation combined with electroencephalography (TMS-EEG) can provide a direct evaluation of cortical responses to TMS. Here, we employed TMS-EEG to investigate cortical responses to orbitofrontal cortex (OFC) stimulation in schizophrenia.

Abnormal Static and Dynamic Local Functional Connectivity in First-Episode Schizophrenia: A Resting-State fMRI Study.

Dynamic functional connectivity (FC) analyses have provided ample information on the disturbances of global functional brain organization in patients with schizophrenia. However, our understanding about the dynamics of local FC in never-treated first episode schizophrenia (FES) patients is still rudimentary. Dynamic Regional Phase Synchrony (DRePS), a newly developed dynamic local FC analysis method that could quantify the instantaneous phase synchronization in local spatial scale, overcomes the limitations of commonly used sliding-window methods.

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Background: Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new cases of upd(6)mat and reviewed the literature of previous cases.

Increased theta-low gamma phase-amplitude coupling in resting electroencephalography after intermittent theta burst stimulation.

Objective: Intermittent theta burst stimulation (iTBS) is based on the phase-amplitude coupling (PAC) pattern. We aimed to investigate the effect of iTBS on PAC in resting electroencephalography (EEG), which may provide insight into the underlying mechanism.

Methods: Twenty-one healthy volunteers were recruited and received both active and sham neuroimaging-guided iTBS on two separate days, which was precisely delivered to the right superior temporal gyrus.

Deep learning-based multiomics integration model for predicting axillary lymph node metastasis in breast cancer.

To develop a deep learning-based multiomics integration model. Five types of omics data (mRNA, DNA methylation, miRNA, copy number variation and protein expression) were used to build a deep learning-based multiomics integration model a deep neural network, incorporating an attention mechanism that adaptively considers the weights of multiomics features. Compared with other methods, the deep learning-based multiomics integration model achieved remarkable results, with an area under the curve of 0.

Development and Validation of a Nomogram for Predicting Axillary Lymph Node Metastasis in Breast Cancer.

Background: Axillary lymph node (ALN) status is a key prognosis indicator for breast cancer patients. To develop an effective tool for predicting axillary lymph node metastasis in breast cancer, a nomogram was established based on mRNA expression data and clinicopathological characteristics.

Materials And Methods: A 1062 breast cancer patients with mRNA data and clinical information were obtained from The Cancer Genome Atlas (TCGA).

The enhanced visible light driven photocatalytic activity of zinc porphyrin/g-CN nanosheet for efficient bacterial infected wound healing.

Graphitic carbon nitride (g-CN) has received much attention as a metal-free polymeric two-dimensional photocatalyst for antibiotic-free antibacterial application. However, the weak photocatalytic antibacterial activity of pure g-CN stimulated by visible light limits its applications. Herein, g-CN is modified with Zinc (II) meso-tetrakis (4-carboxyphenyl) porphyrin (ZnTCPP) by amidation reaction to enhance the utilization of visible light and reduce the recombination of electron-hole pairs.

Evaluation of Brain Source Localization Methods Based on Test-Retest Reliability With Multiple Session EEG Data.

Objective: Various EEG source localization methods have been proposed for functional brain research. The evaluation and comparison of these methods are usually based on simulated data but not real EEG data, as the ground truth of source localization is unknown. In this study, we aim to evaluate source localization methods quantitatively under the real situation.

Dynamic network biomarker to determine the critical point of breast cancer stage progression.

Background: The discovery of early warning signs and biomarkers in patients with early breast cancer is crucial for the prevention and treatment of breast cancer. Dynamic Network Biomarker (DNB) is an approach based on nonlinear dynamics theory, which we exploited to identify a set of DNB members and their key genes as early warning signals during breast cancer staging progression.

Methods: First, based on the gene expression profile of breast cancer in the TCGA database, the DNB algorithm was used to calculate the composite index (CI) of each gene cluster in the process of breast cancer anatomical staging.

Transcranial ultrasound stimulation modulates the interhemispheric balance of excitability in human motor cortex.

. Low-intensity transcranial ultrasound stimulation (TUS) could induce both immediate and long-lasting neuromodulatory effects in human brains. Interhemispheric imbalance at prefrontal or motor cortices generally associates with various cognitive decline in aging and mental disorders.

Analysis of Breast Cancer Differences between China and Western Countries Based on Radiogenomics.

Using radiogenomics methods, the differences between tumor imaging data and genetic data in Chinese and Western breast cancer (BC) patients were analyzed, and the correlation between phenotypic data and genetic data was explored. In this paper, we analyzed BC patients' image characteristics and transcriptome data separately, then correlated the magnetic resonance imaging (MRI) phenotype with the transcriptome data through a computational method to develop a radiogenomics feature. The data was fed into the designed random forest (RF) model, which used the area under the receiver operating curve (AUC) as the evaluation index.

Brevibacillus daliensis sp. nov., Isolated From Soil in Machangqing Nature Reserve.

A new aerobic bacterial strain, designated strain YIM B02290, was isolated from the soil of Machangqing, Dali city, Yunnan Province, China. Cells were Gram-stain-positive, sporogenous, rod-shaped, and motile with peritrichous flagella. Strain YIM B02290 showed the highest 16S rRNA gene sequence similarity with Brevibacillus laterosporus (97.

Comparison of Traditional Radiomics, Deep Learning Radiomics and Fusion Methods for Axillary Lymph Node Metastasis Prediction in Breast Cancer.

Rationale And Objectives: Accurate identification of axillary lymph node (ALN) status in breast cancer patients is important for determining treatment options and avoiding axillary overtreatments. Our study aims to comprehensively compare the performance of the traditional radiomics model, deep learning radiomics model, and the fusion models in evaluating breast cancer ALN status based on dynamic contrast-enhanced-magnetic resonance imaging (DCE-MRI) images.

Materials And Methods: The handcrafted radiomics features and deep features were extracted from 3062 DCE-MRI images.

Orientation algorithm for PPI networks based on network propagation approach.

Biological signal transduction of protein-protein interaction (PPI) networks occupies an important position in life activities because it affects the regulation mechanisms of growth, development and metabolism. To further understand the realization of cellular biological functions, we need to predict the directionality of PPIs. This study combines protein semantic similarity and overlapping clustering algorithm to improve the network propagation method for orientating signal transduction networks.

Cohnella mopanensis sp. nov., a new Gram-negative bacterium isolated from soil in Xinping Mountain National Forest Park.

A Gram-stain-negative, aerobic, rod-shaped bacteria strain, named YIM B01951, was isolated from a forest soil sample collected from Mopan Mountain National Forest Park, Xinping City, Yunnan Province, southwest PR China (101°58'06" N, 23°03'02" E). Growth occurred at 15-40 °C (optimum, 30 °C), pH 5.0-8.

Ti C T MXene Modified with ZnTCPP with Bacteria Capturing Capability and Enhanced Visible Light Photocatalytic Antibacterial Activity.

Light-assisted antibacterial therapy is a promising alternative to antibiotic therapy due to the high antibacterial efficacy without bacterial resistance. Recent research has mainly focused on the use of near-infrared light irradiation to kill bacteria by taking advantage of the synergistic effects rendered by hyperthermia and radical oxygen species. However, photocatalytic antibacterial therapy excited by visible light is more convenient and practical, especially for wounds.

Temporoparietal Connectivity Within Default Mode Network Associates With Clinical Improvements in Schizophrenia Following Modified Electroconvulsive Therapy.

Although modified electroconvulsive therapy (ECT) has been reported to be effective for the treatment of schizophrenia (SCZ), its action mechanism is unclear. To elucidate the underlying ECT mechanisms of SCZ, this study used a longitudinal cohort including 21 SCZ patients receiving only antipsychotics (DSZ group) and 21 SCZ patients receiving a regular course of ECT combining with antipsychotics (MSZ group) for 4 weeks. All patients underwent magnetic resonance imaging (MRI) scans at baseline (t1) and follow-up (t2) time points.

Test-retest reliability of mismatch negativity and gamma-band auditory steady-state response in patients with schizophrenia.

Patients with schizophrenia show widespread impairments in clinical, cognitive and psychosocial functioning. Mismatch negativity (MMN) and gamma-band auditory steady-state response (ASSR) are two neurophysiological biomarkers widely used to inform diagnosis, guide treatments and track response to interventions in schizophrenia. However, evidence for the test-retest reliability of these indices across multiple sessions in schizophrenia patients remains scarce.

Test-retest reliability of duration-related and frequency-related mismatch negativity.

Objectives: -Mismatch negativity (MMN) has been demonstrated as a potential biomarker for pre-attentive processing and prognosis in patients with psychosis. However, previous studies mainly evaluated the reliability of MMN across only two repeated sessions, which is inadequate to draw a convincing conclusion. The current study aimed to assess multi-session test-retest reliability in duration-related MMN (dMMN) and frequency-related MMN (fMMN).