The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.

This study was undertaken to expand the phenotypic and genetic spectrum of AKT3-related neurodevelopmental disorders and to investigate genotype-phenotype correlations. To date, more than 200 patients with AKT3-related disorders have been identified, including those with AKT3 single nucleotide variants and copy number variations affecting the AKT3 gene. Adding our three newly diagnosed patients, the total number of patients with AKT3 single nucleotide variant-related neurodevelopmental disorders is now 61.

PCBP2-dependent secretion of miRNAs via extracellular vesicles contributes to the EGFR-driven angiogenesis.

The EGFR-driven angiogenesis is crucial in solid tumors, particularly through the delivery of biomolecules via extracellular vesicles (EVs), but the mechanism by which EGFR regulates EV cargo is still unclear. First, cell co-culture and murine tumor models were employed to examine the impact of EGFR overexpression on the pro-angiogenic properties of small EVs (sEVs) derived from oral squamous cell carcinoma (OSCC). Small RNA sequencing was then used to compare the miRNA profiles of OSCC-sEVs with and without EGFR overexpression, followed by functional enrichment and motif analyses of the differentially expressed miRNAs.

Multi-omics analysis and experiments uncover the function of cancer stemness in ovarian cancer and establish a machine learning-based model for predicting immunotherapy responses.

Background: The heterogeneity of cancer makes it challenging to predict its response to immunotherapy, highlighting the need to find reliable biomarkers for assessment. The sophisticated role of cancer stemness in mediating resistance to immune checkpoint inhibitors (ICIs) is still inadequately comprehended.

Methods: Genome-scale CRISPR screening of RNA sequencing data from Project Achilles was utilized to pinpoint crucial genes unique to Ovarian Cancer (OV).

Lower toxicity of HFPO-DA compared to its predecessor PFOA to the earthworm Eisenia fetida: Evidence from oxidative stress and transcriptomic analysis.

Hexafluoropropylene oxide dimer acid (HFPO-DA), an emerging perfluoroalkyl substance (PFAS) that is replacing traditional PFASs, has a wide range of industrial applications and has been detected globally in the environment. However, it remains unclear whether HFPO-DA, is genuinely less toxic than perfluorooctanoic acid (PFOA) in terms of soil environmental hazards. Therefore, this study aimed to compare differences in toxicity between PFOA and its substitute, HFPO-DA, in a common species of earthworm, Eisenia fetida.

Comparison of the combined toxicity of PFOA and emerging alternatives: A comprehensive evaluation of oxidative damage, apoptosis and immunotoxicity in embryonic and adult zebrafish.

Perfluorohexanoic acid (PFHxA) and perfluorobutanoic acid (PFBA) are widely used substitutes to perfluorooctanoic acid (PFOA). Whether these substitutes are less toxic than PFOA remains unclear owing to differences in the experimental methods, test organisms, and other experimental conditions in previous studies. The present study selected 0.

Multi-omics decipher the immune microenvironment and unveil therapeutic strategies for postoperative ovarian cancer patients.

Background: Ovarian cancer (OC) is a highly aggressive and often fatal disease that frequently goes undetected until it has already metastasized. The classic treatment for OC involves surgery followed by chemotherapy. However, despite the effectiveness of surgery, relapse is still a common occurrence.

Impact of Intraoperative Nanocarbon Staining and parathyroid autotransplantation on parathyroid injury and recovery in adult thyroidectomy: a retrospective cohort study.

Background: Thyroid surgeries are intricate operations that carry the risk of damaging the parathyroid glands, which can result in hypocalcemia and potential long-term hypoparathyroidism. Innovative surgical techniques including Intraoperative Nanocarbon Staining (INS), aim to enhance the preservation of parathyroid glands. This study assesses the effectiveness of INS combined with parathyroid autotransplantation in reducing postoperative complications and preserving parathyroid function.

TSG101 overexpression enhances metastasis in oral squamous cell carcinoma through cell cycle regulation.

The tumor susceptibility gene 101 (TSG101) was firstly identified as a tumor-inhibiting factor in 1996. Subsequent studies gradually revealed its crucial role in several important cellular processes, including cell survival, vesicle transportation, viral infection, etc. Additionally, TSG101 has been identified as an oncoprotein in certain tumorigenic processes.

Negative effects of polyvinyl chloride microplastics and the plasticizer DnOP on earthworms: Co-exposure enhances oxidative stress and immune system damage in earthworms.

Polyvinyl chloride microplastics (PVC-MPs) are the most used plastics in agriculture. Di-n-octyl phthalate (DnOP), a commonly used plasticizer in PVC-MPs, may be released from plastic and coexist with PVC-MPs. The effects of DnOP alone and coexisting with PVC-MPs are not known.

[Developmental and epileptic encephalopathy 33 caused by gene mutation: a case report].

A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a heterozygous missense mutation of c.364G>A(p.

Efficacy of ginsenoside Rg1 on rodent models of depression: A systematic review and meta-analysis.

Rationale: Depression is a prevalent psychiatric disease, and ginsenoside Rg1 is a bioactive compound extracted from the root of Panax ginseng C.A.Mey.

The Role of Mindfulness Therapy in the Treatment of Chronic Pain.

Purpose Of Review: Mindfulness therapy is a widely used treatment for many diseases and has been shown to improve pain-related functions. There is growing support for the use of psychotherapy in the treatment of chronic pain. While studies have shown a positive effect of mindfulness therapy, it is important to consider psychosocial factors as there are still a small number of studies that question its effectiveness.

A novel 2D Eu-MOF as a dual-functional fluorescence sensor for detection of benzaldehyde and Fe.

Lanthanide metal-organic frameworks (Ln-MOFs) have unique advantages in sensing due to their excellent optical properties. In this study, we synthesized a dicarboxylic acid ligand with amide groups and successfully synthesized a novel two-dimensional (2D) MOF with the molecular formula CHEuNO (Eu-MOF) by a solvothermal method. Single-crystal X-ray diffraction showed that amide groups are exposed on the outside of the two-dimensional coordination layer, with the possibility of recognizing specific molecules through hydrogen bonding interactions.

Eco-friendly cellulose-based antioxidation film by partial esterification.

Cellulose nanocrystals (CNCs) have received increasing attention because of their superior dispersion and thermal stability. In this study, TEMPO-oxidized cellulose nanocrystal (TOCNC) multifunctional antioxidationantioxidation films (TOCNC-GA film) were prepared by the esterification of TOCNC and gallic acid (GA). TOCNC-GA films, where X represents the ratio of the amount of GA to the amount of TOCNC, were characterized using scanning electron microscopy, Fourier transform infrared spectroscopy, and X-ray photoelectron spectroscopy.

A Phase I Clinical Study Comparing the Pharmacokinetics, Safety, and Immunogenicity of GB221 Injection and Trastuzumab (Herceptin) in Healthy Chinese Adults.

Background And Objective: GB221 is a recombinant humanized anti-HER2 monoclonal antibody. The purpose of this study was to evaluate the pharmacokinetic, safety, and immunogenicity of GB221 in healthy Chinese adults in comparison to trastuzumab (Herceptin).

Methods: In this randomized, double-blind, parallel-group phase I clinical trial, 88 subjects were randomized 1:1 to receive a single intravenous infusion (90-100 min) of GB221 or trastuzumab (6 mg/kg).

Regenerative therapies for femoral head necrosis in the past two decades: a systematic review and network meta-analysis.

Background: Regenerative techniques combined with core decompression (CD) are commonly used to treat osteonecrosis of the femoral head (ONFH). However, no consensus exists on regeneration therapy combined with CD that performs optimally. Therefore, we evaluated six regenerative therapies combined with CD treatment using a Bayesian network meta-analysis (NMA).

Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.

With the continuous deepening of genetic research on neurodevelopmental disorders (NDDs), more patients have been identified the causal or candidate genes. However, it is still urgent needed to increase the sample size to confirm the associations between variants and clinical manifestations. We previously performed molecular inversion probe sequencing of autism spectrum disorder (ASD) candidate genes in 1543 ASD patients.

Adeno-associated virus-mediated gene therapy for rare pediatric neurogenetic diseases: Current status and outlook.

Rare pediatric neurogenetic diseases always have early onset, no specific therapy, high mortality, and pose a severe risk to the health and survival of children. Adeno-associated virus (AAV)-mediated gene therapy, a type of disease-modifying therapy, provides a new option for the treatment of rare pediatric neurogenetic diseases and represents a significant advancement in the field. Currently, the US Food and Drug Administration (FDA) and the European Medicines Association (EMA) have approved AAV-mediated gene therapy medications for treating spinal muscular atrophy, aromatic -amino acid decarboxylase deficiency, and Duchenne muscular dystrophy.

First-in-human trial of SAR107375E, a novel small molecule anticoagulant with dual inhibition of factor Xa and factor IIa.

Background: SAR107375E is a direct dual inhibitor of both Factor Xa and Factor IIa and has shown potent anticoagulation activity in vitro and animals. This study evaluated the safety, tolerability, pharmacokinetics, and pharmacodynamics of single ascending intravenous doses of SAR107375E in healthy Chinese adult subjects.

Methods: In this randomized, double-blind, placebo-controlled trial, 60 healthy Chinese adult subjects were administered intravenously single ascending doses (0.