Publications by authors named "Xiao-yu Liang"

Article Synopsis
  • EP400 is a gene that encodes an essential protein for ATP-dependent chromatin remodeling, and its role in diseases is not well understood, although this study suggests a link to epilepsy and neurodevelopmental disorders (NDDs).
  • Researchers conducted whole-exome sequencing on 402 families and found EP400 variants associated with individuals experiencing epilepsy and NDDs, with some variants being inherited and others newly formed.
  • The study also demonstrated that EP400 is crucial during brain development, particularly in neurons, and its deficiency can lead to significant neurological issues, making it a potentially key player in these conditions.
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Background: The CCDC22 gene plays vital roles in regulating the NF-κB pathway, an essential pathway for neuroinflammation, neurodevelopment, and epileptogenesis. Previously, variants in CCDC22 were reported to be associated with intellectual disability. This study aimed to explore the association between CCDC22 and epilepsy.

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Background: Anti-PD-1 therapy and chemotherapy is a recommended first-line treatment for recurrent or metastatic nasopharyngeal carcinoma, but the role of PD-1 blockade remains unknown in patients with locoregionally advanced nasopharyngeal carcinoma. We assessed the addition of sintilimab, a PD-1 inhibitor, to standard chemoradiotherapy in this patient population.

Methods: This multicentre, open-label, parallel-group, randomised, controlled, phase 3 trial was conducted at nine hospitals in China.

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Whether stem-cell-like cancer cells avert ferroptosis to mediate therapy resistance remains unclear. In this study, using a soft fibrin gel culture system, we found that tumor-repopulating cells (TRCs) with stem-cell-like cancer cell characteristics resist chemotherapy and radiotherapy by decreasing ferroptosis sensitivity. Mechanistically, through quantitative mass spectrometry and lipidomic analysis, we determined that mitochondria metabolic kinase PCK2 phosphorylates and activates ACSL4 to drive ferroptosis-associated phospholipid remodeling.

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The magnetoencephalogram (MEG) based on array optically pumped magnetometers (OPMs) has the potential of replacing conventional cryogenic superconducting quantum interference device. Phase synchronization is a common method for measuring brain oscillations and functional connectivity. Verifying the feasibility and fidelity of OPM-MEG in measuring phase synchronization will help its widespread application in the study of aforementioned neural mechanisms.

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The AJCC/UICC TNM classification describes anatomic extent of tumor progression and guides treatment decisions. Our comprehensive analysis of 8,834 newly diagnosed patients with non-metastatic Epstein-Barr virus related nasopharyngeal carcinoma (NPC) from six Chinese centers indicates certain limitations in the current staging system. The 8th edition of the AJCC/UICC TNM classification inadequately differentiates patient outcomes, particularly between T2 and T3 categories and within the N classification.

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Vehicle emissions have become one of the most important air pollution sources in China. Promoting vehicle synergistic reduction of pollution and carbon is the key to improving regional environmental quality and achieving the carbon peaking and carbon neutrality goals. Building a collaborative evaluation system and comprehensive quantitative method is an important prerequisite for scientific and effective implementation of vehicle pollution and carbon synergistic reduction.

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A rare foreign body accompanied by thrombosis in the right internal jugular vein was accidentally observed. We collected the medical history of this special patient, analyzed the causes and characteristics of the foreign body and thrombosis formation, and subsequently observed the changes in thrombosis. Finally, we discussed the diagnostic value of ultrasound for such rare intravascular lesions.

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Article Synopsis
  • * A total of 431 patients were analyzed, with 79 receiving oral chemotherapy and 352 undergoing observation; the research used propensity score matching to balance the groups for comparison.
  • * Results showed that the oral chemotherapy group had significantly longer modified disease-free survival (mDFS) and disease-free survival (DFS) compared to the observation group, indicating that more aggressive treatment may offer better survival outcomes.
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Objectives: The DYNC1H1 variants are associated with abnormal brain morphology and neuromuscular disorders that are accompanied by epilepsy. This study aimed to explore the relationship between DYNC1H1 variants and epilepsy.

Materials And Methods: Trios-based whole-exome sequencing was performed on patients with epilepsy.

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Purpose: To provide an updated list of epilepsy-associated genes based on clinical-genetic evidence.

Methods: Epilepsy-associated genes were systematically searched and cross-checked from the OMIM, HGMD, and PubMed databases up to July 2023. To facilitate the reference for the epilepsy-associated genes that are potentially common in clinical practice, the epilepsy-associated genes were ranked by the mutation number in the HGMD database and by case number in the China Epilepsy Gene 1.

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The Beijing Daxing International Airport is a newly opened airport, and a comprehensive emission inventory of air pollution sources has not yet been established. The lack of basic inventory data will cause difficulties in controlling the air quality (AQ) in and around the airport. Based on actual flight data, we established a comprehensive emission inventory (carbon monoxide (CO), nitrogen oxides (NO), hydrocarbons (HC), sulfur dioxide (SO), particulate matter (PM), and carbon dioxide (CO)) at Beijing Daxing International Airport.

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Article Synopsis
  • Researchers investigated the potential link between FRMPD4 gene variants and unexplained epilepsy in patients by conducting whole-exome sequencing on 85 patients and their families.
  • They identified two novel missense variants among their sample, as well as three additional variants from a gene matching platform, all showing low frequency in the general population.
  • The study concluded that different types and locations of FRMPD4 variants can be correlated with various epilepsy phenotypes, suggesting the gene may play a significant role in the condition.
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Gemcitabine plus cisplatin (GP) chemotherapy is the standard of care for nasopharyngeal carcinoma (NPC). However, the mechanisms underpinning its clinical activity are unclear. Here, using single-cell RNA sequencing and T cell and B cell receptor sequencing of matched, treatment-naive and post-GP chemotherapy NPC samples (n = 15 pairs), we show that GP chemotherapy activated an innate-like B cell (ILB)-dominant antitumor immune response.

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Article Synopsis
  • The study investigates genetic variants linked to developmental and epileptic encephalopathy 18 (DEE-18) and their effects on neurological development, aiming to clarify the relationship between these genetic factors and clinical outcomes.
  • Six unrelated patients with different forms of epilepsy were analyzed, revealing various mutations that affected the severity and type of seizures they experienced; notably, biallelic null mutations led to more severe DEE, while biallelic missense variants resulted in milder epilepsy.
  • The findings broaden the understanding of how specific genetic variants influence epilepsy phenotypes, suggesting a link between recessive variants and both severe and milder forms of epilepsy without developmental delays.
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Railway transportation is one of the main modes of modern transportation. Under the dual constraints of air quality improvement and carbon neutrality achievement, clarifying the emission trend of CO and pollutants in railway transportation is of great significance for pollution and carbon reduction in the transport sector. In this study, the CO and pollutant emission characteristics of Chinese railways from 2001 to 2018 were analyzed based on the fuel life cycle method.

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Objectives: To address whether sparing the medial retropharyngeal lymph node (MRLN) region from elective irradiation volume provides non-inferior local relapse-free survival versus standard radiotherapy in patients with nasopharyngeal carcinoma.

Design: Open-label, non-inferiority, multicentre, randomised, phase 3 trial.

Setting: Three Chinese hospitals between 20 November 2017 and 3 December 2018.

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To obtain more insight into IgM in anti-SARS-CoV-2 immunity a prospective cohort study was carried out in 32 volunteers to longitudinally profile the kinetics of the anti-SARS-CoV-2 IgM response induced by administration of a three-dose inactivated SARS-CoV-2 vaccine regimen at 19 serial time points over 456 days. The first and second doses were considered primary immunization, while the third dose was considered secondary immunization. IgM antibodies showed a low secondary response that was different from the other three antibodies (neutralizing, total, and IgG antibodies).

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The molecular basis underlying nasopharyngeal carcinoma (NPC) remains unclear. Recent progress in transcriptional regulatory network analysis helps identify the master regulator (MR) proteins that transcriptionally define malignant tumor phenotypes. Here, we investigated transcription factor-target interactions and identified TEA domain transcription factor 4 (TEAD4) as an MR of high-risk NPC.

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Aims: Etiology of the majority patients with idiopathic partial epilepsy (IPE) remains elusive. We thus screened the potential disease-associated variants in the patients with IPE.

Methods: Trios-based whole exome sequencing was performed in a cohort of 320 patients with IPE.

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Vancomycin remains the mainstay of treatment for methicillin-resistant Staphylococcus aureus (MRSA) pneumonia. This study assessed risk factors for vancomycin failure in 63 patients with MRSA pneumonia through detailed clinical, microbiological, pharmacokinetic/pharmacodynamic, and genetic analyses of prospective multicenter studies conducted from February 2012 to July 2018. Therapeutic drug monitoring was performed during vancomycin treatment, and the 24-h area under the curve (AUC) was calculated.

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Objective: Thyroid cancer has been an increasingly high-profile public health issue. Comprehensive assessment for its disease burden seems particularly important for understanding health priorities and hinting high-risk populations.

Methods: We estimated the age-sex-specific thyroid cancer burden and its temporal trend in China from 1990 to 2019 by following the general methods from the global burden of disease (GBDs) 2019 Study.

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Article Synopsis
  • The study investigates the link between mutations in the voltage-gated calcium channel subunit alpha1 A gene and various forms of epilepsy, particularly focusing on the genetic basis behind paroxysmal disorders like episodic ataxia type 2.
  • Researchers utilized whole-exome sequencing on 318 partial epilepsy cases and 150 generalized epilepsy cases, identifying 12 mutations across ten unrelated epilepsy patients, with several categorized as pathogenic.
  • Results indicate that certain mutations, especially null mutations, are more frequent in episodic ataxia type 2 compared to epilepsy, and specific missense mutations correlate with more severe seizure phenotypes.
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Ecdysone-induced protein 93F (E93) plays important roles during the metamorphosis process in insects. In this study, a cDNA of the LmE93 gene was identified from the transcriptome of Locusta migratoria, which consists of the 3378-nucleotide open-reading frame (ORF) and encodes 1125 amino acids with helix-turn-helix (HTH) motifs. Reverse transcription quantitative polymerase chain reaction analysis revealed that LmE93 was highest expressed in ovary.

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