Transcriptomic Analysis Reveals the Opposite Regulatory Effects of WRKY and CAMTA Transcription Factors on Total Tannin Production in Fruit.

Tannins are prevalent compounds found in plant fruits, contributing to the bitter taste often associated with these fruits and nuts, thereby influencing their overall taste quality. Numerous studies have been conducted to investigate the regulatory factors involved in tannin synthesis. Among these factors, transcription factors exhibit the most significant capacity to regulate tannin production as they can modulate the expression of several key enzyme genes within the tannin synthesis pathway.

Mesenchymal Stem Cell-Derived Exosomes: Emerging as a Promising Cell-Free Therapeutic Strategy for Autoimmune Hepatitis.

Autoimmune hepatitis (AIH) is an immune-mediated liver disease that currently faces limited treatment options. In its advanced stages, AIH can progress to liver fibrosis and cirrhosis. Recent research has increasingly focused on cell-free therapies, particularly the use of mesenchymal stem cell (MSC)-derived exosomes (Exos), which have shown promise in treating autoimmune diseases, including AIH.

A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.

Pathogenic variants of mitochondrial DNA (mtDNA) are associated with a large number of heterogeneous diseases involving multiple systems with which patients may present with a wide range of clinical phenotypes. Clinical data of the proband and his family members were gathered in a retrospective study. Whole-exome sequencing and full-length sequencing of the mitochondrial genome that was performed on peripheral blood, urine, and oral mucosa cells were applied for genetic analysis.

Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.

Objective: To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.

Methods: Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from pediatric patients with 5q-SMA receiving nusinersen treatment across 18 centers in China. All patients fulfilling the eligibility criteria were included consecutively.

A novel mutation of DNA2 regulates neuronal cell membrane potential and epileptogenesis.

Mesial temporal lobe epilepsy (MTLE) is one of the most intractable epilepsies. Previously, we reported that mitochondrial DNA deletions were associated with epileptogenesis. While the underlying mechanism of mitochondrial DNA deletions during epileptogenesis remain unknown.

Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic variants.

Alopecia intellectual disability syndromes 4 (APMR4) caused by Lanosterol synthase () gene variants is a very rare autosomal recessive neuroectodermal syndrome. It is characterized by congenital alopecia and variable degrees of intellectual disability (ID), frequently associated with developmental delay (DD) and epilepsy. Currently, only three studies regarding -related APMR4 have been reported, the pathogenesis of APMR4 is poorly understood.

Clinical analysis and literature review of two paediatric cases of anti-IgLON5 antibody-related encephalitis.

Introduction: Anti-IgLON5 antibody-related encephalitis is a rare autoimmune disorder of the central nervous system, predominantly occurring in middle-aged elderly individuals, with paediatric cases being exceptionally rare. This study aims to enhance the understanding of paediatric anti-IgLON5 antibody-related encephalitis by summarising its clinical and therapeutic characteristics.

Method: A retrospective analysis was conducted on two paediatric patients diagnosed with anti-IgLON5 antibody-related encephalitis at Hunan Children's Hospital from August 2022 to November 2023.

Transcriptome analysis reveals important regulatory factors for condensed tannins synthesis in acorn.

Condensed tannins are widely present in the fruits and seeds of plants and effectively prevent them from being eaten by animals before maturity due to their astringent taste. In addition, condensed tannins are a natural compound with strong antioxidant properties and significant antibacterial effects. Four samples of mature and near-mature Quercus fabri acorns, with the highest and lowest condensed tannin content, were used for genome-based transcriptome sequencing.

A novel splicing variant in MICAL-1 gene is associated with epilepsy.

Germline MICAL1 defects have been rarely reported in patients with epilepsy and the genotype-phenotype association remains unclear. In this study, the patient was a 4.6 years old girl who presented with onset of recurrent focal seizures with onset at age 3.

An adaptive seamless 2-in-1 design with biomarker-driven subgroup enrichment.

Adaptive seamless phase 2/3 subgroup enrichment design plays a pivotal role in streamlining efficient drug development within a competitive landscape, while also enhancing patient access to promising treatments. This design approach identifies biomarker subgroups with the highest potential to benefit from investigational regimens. The seamless integration of Phase 2 and Phase 3 ensures a timely confirmation of clinical benefits.

Serum globulin in children with myasthenia gravis: predicting relapse and prognosis.

Objective: Serum globulin is associated with inflammatory or immune disorders. However, it has not been established whether it is associated with myasthenia gravis (MG). We investigated the association between globulin with relapse and prognosis in children with MG.

Flexible seamless 2-in-1 design with sample size adaptation.

The 2-in-1 design is becoming popular in oncology drug development, with the flexibility in using different endpoints at different decision time. Based on the observed interim data, sponsors can choose to seamlessly advance a small phase 2 trial to a full-scale confirmatory phase 3 trial with a pre-determined maximum sample size or remain in a phase 2 trial. While this approach may increase efficiency in drug development, it is rigid and requires a pre-specified fixed sample size.

All in the family: The complementary protective roles of spousal and other family support for Chinese immigrant mothers' life satisfaction over time.

The demand-resources model of stress posits that parenting tasks and expectations of mothers that exceed their resources are likely to tax their psychological well-being. Social and instrumental support from spouse or family may help alleviate the negative effects of parenting stress on mothers' psychological well-being. However, parenting stress and its impact have been less studied among immigrant mothers.

NEDD4-2 and the CLC-2 channel regulate neuronal excitability in the pathogenesis of mesial temporal lobe epilepsy.

An increasing number of studies have focused on the role of NEDD4-2 in regulating neuronal excitability and the mechanism of epilepsy. However, the exact mechanism has not yet been elucidated. Here, we explored the roles of NEDD4-2 and the CLC-2 channel in regulating neuronal excitability and mesial temporal lobe epilepsy (MTLE) pathogenesis.

Novel variant causes congenital myopathy with focal myofibrillar disorganisation.

Background: Congenital myopathies are a clinical, histopathological and genetic heterogeneous group of inherited muscle disorders that are defined on peculiar architectural abnormalities in the muscle fibres. Although there have been at least 33 different genetic causes of the disease, a significant percentage of congenital myopathies remain genetically unresolved. The present study aimed to report a novel variant in two unrelated Chinese patients with sporadic congenital myopathy.

Schwann cell promotes macrophage recruitment through IL-17B/IL-17RB pathway in injured peripheral nerves.

Macrophage recruitment to the injured nerve initiates a cascade of events, including myelin debris clearance and nerve trophic factor secretion, which contribute to proper nerve tissue repair. However, the mechanism of macrophage recruitment is still unclear. Here, by comparing wild-type with Mlkl and Sarm1 mice, two mouse strains with impaired myelin debris clearance after peripheral nerve injury, we identify interleukin-17B (IL-17B) as a key regulator of macrophage recruitment.

AP3 promotes the synthesis of condensed tannin in fruit by positively regulating ANR expression.

Condensed tannins are often found in fruits and nuts and have an astringent flavor. The synthesis pathway of condensed tannins is already clear, but few related regulatory factors have been explored. Previous studies about MADS-box transcription factors have mainly focused on the regulation of floral organ development.

Engineering a pH-responsive polymeric micelle co-loaded with paclitaxel and triptolide for breast cancer therapy.

Breast cancer has overtaken lung cancer as the number one cancer worldwide. Paclitaxel (PTX) is a widely used first-line anti-cancer drug, but it is not very effective in clinical breast cancer therapy. It has been reported that triptolide (TPL) can enhance the anticancer effect of paclitaxel, and better synergistic therapeutic effects are seen with concomitant administration of PTX and TPL.

Spectroscopic Elucidation of the Electrochemical Potential Drop at Polyelectrolytes/Au Interfaces.

Polyelectrolytes have been widely applied in electrochemical devices. Understanding the polyelectrolyte/electrode interfaces is pivotal for polyelectrolyte-based applications. Here, we measured the electrochemical potential drop and the local activity of the mobile ion of H or OH at the polyelectrolytes/Au interfaces by electrochemical surface-enhanced Raman spectroscopy and voltammetry in three-electrode cells.

Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.

Objective: This study aimed to examine the clinical and gene-mutation characteristics of pediatric patients with sodium channel gene mutation-related childhood epilepsy and to provide a basis for precision treatment and genetic counseling.

Methods: The clinical data from 94 patients with sodium channel gene mutation-related childhood epilepsy who were treated at Hunan Children's Hospital from August 2012 to December 2022 were retrospectively evaluated, and the clinical characteristics, gene variants, treatment, and follow-up status were analyzed and summarized.

Results: Our 94 pediatric patients with sodium channel gene variant-related childhood epilepsy comprised 37 girls and 57 boys.