Clinical trials are often designed based on limited information about effect sizes and precision parameters with risks of underpowered studies. This is more problematic for SMARTs where strategy effects are based on sequences of treatments. Sample size adjustment offers flexibility through re-estimating sample size during the trial to ensure adequate power at the final analysis.
View Article and Find Full Text PDFPolyphenols, as one of the primary compounds produced by plant secondary metabolism, have garnered considerable attention because of their non-toxic, environmentally friendly, and biodegradable properties, as well as their notable medicinal value. This study presents a metabolomic analysis of polyphenols from 11 woody plants, including , , and , investigating a total of 40 polyphenolic metabolites. A differential metabolite dynamics map highlighted the five most differentiated substances among the 11 plants, including vitexin, dihydromyricetin, genistin, resveratrol, and isorhamnetin.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
The ability of axillary meristems to form axillary buds and subsequently develop into branches is influenced by phytohormones, environmental conditions, and genetic factors. The main trunk of Quercus fabri is prone to branching, which not only impacts the appearance and density of the wood and significantly reduces the yield rate. This study conducted transcriptomic, proteomic, and metabolomic analyses on three stages of axillary bud development in Q.
View Article and Find Full Text PDFTannins 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.
View Article and Find Full Text PDFAutoimmune 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.
View Article and Find Full Text PDFFront Immunol
October 2024
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by mutations in the dystrophin gene, causing motor and pulmonary function decline. Viltolarsen is indicated for patients with dystrophin gene mutations amenable to exon 53 skipping. Here, we report safety, motor function, and the first pulmonary function results from the open-label, phase II Galactic53 trial of viltolarsen (NCT04956289).
View Article and Find Full Text PDFPathogenic 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.
View Article and Find Full Text PDFObjective: 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.
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.
View Article and Find Full Text PDFAlopecia 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.
View Article and Find Full Text PDFIntroduction: 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.
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.
View Article and Find Full Text PDFGermline 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.
View Article and Find Full Text PDFJ Biopharm Stat
April 2024
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.
View Article and Find Full Text PDFObjective: 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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFAn 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.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDFMacrophage 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.
View Article and Find Full Text PDFIntroduction: The cases of MOG-AD (MOG antibody-associated disorder) and anti-NMDAR encephalitis overlapping syndrome (MNOS) are rare, especially among pediatric patients, and their clinical understanding is limited. This study aimed to investigate the clinical manifestations, imaging findings, treatments, and prognosis of Chinese pediatric patients who tested positive for anti-NMDAR and MOG antibodies.
Methods: This retrospective study enrolled 10 MNOS pediatric patients, 50 MOG-AD (anti-NMDAR antibody-negative), and 81 anti-NMDAR encephalitis (MOG antibody-negative) pediatric patients who were admitted from July 2016 to June 2022 and used their clinical data for comparison.