Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen 15 parents multiple tissue samples. used ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect of the proband's pathogenic mutation SCN1A, causal gene DS 112 families. Ten paternal sperm samples found exhibit mutations,...

Background: The EGF domain-specific O-GlcNAc transferase (EOGT), a migrasome marker, plays emerging roles in cancer biology through O-GlcNAcylation modifications, yet its pan-cancer functions and therapeutic implications remain underexplored. This study aimed to systematically characterize EOGT’s oncogenic mechanisms across malignancies, with particular focus on hepatocellular carcinoma (HCC) progression sorafenib resistance. Methods: Multi-omics analysis integrated TCGA/GTEx data from 33...

PurposeThe primary aim of this study was to closely monitor and identify adverse events (AEs) linked lenvatinib, a pharmacotherapeutic agent employed for the management renal cell carcinoma, thyroid cancer, hepatocellular carcinoma. The ultimate goal optimize patient safety provide evidence-based guidance appropriate utilization medication.MethodsA comprehensive collection analysis reports from FDA Adverse Event Reporting System (FAERS) database conducted, encompassing period first quarter...

Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic caused de novo ATP1A3 pathogenic variants. In this study, the aim was to identify origin variants in Chinese cohort. 105 probands including 101 4 familial cases, 98 patients with were identified, 96.8% confirmed as novo. Micro-droplet digital polymerase chain reaction applied for detecting mosaicism 80 available families. blood...

Gallbladder carcinoma (GBC), which has high invasion and metastasis risks, remains the most common biliary tract malignancy. Surgical resection for GBC is only effective treatment, but patients miss opportunity curative surgery because of a lack timely diagnosis. The aim this study was to identify verify early candidate diagnostic prognostic RNA methylation related genes via integrated transcriptome bioinformatics analysis. Lists GBC-related methylation-related were collected from public...

Management of elderly patients with hepatocellular carcinoma (HCC) has become a major concern. Some data suggest that cryoablation improves the outcomes HCC, but its efficacy and safety remain unknown. This study aimed to evaluate compare percutaneous those radiofrequency ablation (RFA) for HCC patients.In all, 223 small aged ≥70 years, treatment-naïve, without metastasis were enrolled randomized into group (n = 112) or RFA 111) from July 2015 October 2018. The primary endpoint was local...

Several studies have demonstrated that chronic hepatitis delta virus (HDV) infection is associated with a worsening of B (HBV) and increased risk hepatocellular carcinoma (HCC). However, there limited data on the role HDV in oncogenesis HCC. This study aimed at assessing potential mechanisms HDV-associated hepatocarcinogenesis, especially to screen identify key genes pathways possibly involved pathogenesis We selected three microarray datasets: GSE55092 contains 39 cancer specimens 81...

This letter reports a novel single-component organic-memory cell based on oxotitanium phthalocyanine (TiOPc) material. The device can achieve good resistive-switching performance such as high on/off current ratio of about 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">4</sup> , large read signal window (4 V), and retention h at 1-V voltage). exhibits excellent thermal stability above 525 K due to the robustness TiOPc, which indicates its...

Hormonal therapy is an important treatment option for estrogen receptor (ER)-positive patients with advanced ovarian cancer. Although ER overexpression has been previously used as indicator hormonal therapy, the clinical outcomes of cancer receiving remain unsatisfactory. Additional biomarkers screening are needed to improve its efficacy. In this study, we reported a metastatic case 1 (ESR1) gene amplification and protein overexpression, which showed sustained partial response including...

In this paper, a high thermal stable TaO <inf xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">x</inf> -based RRAM device has been fabricated with TiN as the top electrode. The shows good endurance behavior little fluctuations in voltages and resistance state. Due to stability of device, potential for MLC application was also investigated. addition, mechanism performance is analyzed Gibbs free energy based on TEM-analysis comparative experiments.

Genetic factors play significant roles in the tumorigenicity of lung cancer; however, there is lack systematic and large‐scale characterization pathogenic germline variants for cancer. In this study, 146 preselected cancer‐susceptibility genes were detected 17 904 Chinese cancer patients by clinical next‐generation sequencing. Among patients, 1738 (9.7%) carried 1840 pathogenic/likely (P/LP) from 87 genes. SBDS (SBDS ribosome maturation factor) (1.37%), TSHR (thyroid stimulating hormone...

To evaluate the effects of LncRNAZFAS1 on cell proliferation and tumor metastasis in non-small lung cancer (NSCLC), we detected expression level NSCLC-related tissues cells. qRT-PCR results revealed that was significantly higher than normal tissue, especially up-regulated stage III / IV metastatic NSCLC tissues. dramatically 4 cells (A549, SPC-A1, SK-MES-1, NCI-H1299), with having highest A549 Furthermore, implemented a knockdown cells, CCK8 Transwell assays suggested inhibited metastasis....

Optomechanical crystal cavities are devices based on optomechanical interactions to manipulate photons and phonons periodic subwavelength structures, enabling precise measurement of the force displacement. The performance target structures varies when applied different applications. now rely an empirical forward design, which is inefficient. Therefore, a desired shift toward directed design with “problem-oriented” strategy. optimization problem’s nonconvex nature extensive parameter space...

In summary, a novel RRAM with the structure of Cu/Si <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">x</sub> O xmlns:xlink="http://www.w3.org/1999/xlink">y</sub> N xmlns:xlink="http://www.w3.org/1999/xlink">z</sub> /W was first fabricated and its characteristics are thoroughly investigated. The new device exhibited low switching voltages reset currents, demonstrating potential for low-power applications. Repeatable unipolar resistive in terms...

3D printing of hydrogels has been broadly investigated in various fields. However, it is difficult to be mass-produced or industrialized due the complexity curing technology and harsh conditions. In this study, based on Binham fluids theory, a more easily molding hydrogel method were demonstrated. The compound Gum Acacia (GA) silicon dioxide (SiO2) like Bingham represents highly efficient providing excellent rheological behaviors ensuring print for self-shaping printed hydrogels. Instantly...

To develop a signature based on anoikis-related genes (ARGs) for predicting the prognosis of patients with hepatocellular carcinoma (HCC), and to elucidate molecular mechanisms involved. In this study, bioinformatic algorithms were applied integrate analyze 777 HCC RNA-seq samples from cancer genome atlas international consortium repositories. A prognostic was developed via least absolute shrinkage selection operator-cox regression method. evaluate accuracy in events, multi-type technical...

Oxotitanium phthalocyanine (TiOPc) material is found to feature electrical bistability characteristics for the first time. A one-component organic memory device based on sandwiched structure of TiOPc thin film demonstrated in this paper. high on–off ratio four orders magnitude and a large 4 V read voltage window have been achieved at room temperature, which can reduce readout errors induced by dispersions resistance parameter. The exhibits no significant degradation retention performance...

A novel organic memory device based on titanyl phthalocyanine (TiOPc) thin film sandwiched between Aluminum and indium tin oxide electrodes was reported. With a single-component material, the can achieve good performance, such as high on/off current ratio of 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">4</sup> , large 4 V read voltage window, retention (14,000 s at 1 stress). The cell maintain bistable performance up to 525 K due thermal...

Objective To investigate the effect of fish oil on gastrointestinal function rats with acute necrotizing pancreatitis and explore its mechanism. Methods The male Sprague-Dawley (SD) were divided into three groups: ANP group(group A,n=8), treatment F,n=8) control C, n = 8). Five days after experiment being started, grade severity was evaluated by histological analysis,and amount food residue in rat's tract each group observed. Finally, activity serum antioxidant enzymes(SOD, GSH-Px), D-lactic...

Memory capacitors with the structure of thin tunneling oxide layer/silicon nanocrystal (NC) layer/thick controlling layer were fabricated by both LPCVD method and low energy ion implantation method. The silicon NC formation condition, its size density which have great influence on memory characteristics are experimentally investigated in this paper. Silicon a 2V threshold voltage window was obtained optimized technology, is beneficial to practical application device.