Polymorphisms in the gene and neuroblastoma risk in Chinese children from Jiangsu province.

Neuroblastoma is the most prevalent extracranial solid tumor among children and exhibits remarkable heterogeneity. The methylation of cytosine to form 5-methylcytosine (m5C) is the primary type of modification found in DNA and RNA. The NOL1/NOP2/sun (NSUN) family, specifically NSUN1, is responsible for the methylation process and has been shown to play a key role in cell differentiation and cancer development.

Development and validation of a novel immune-related prognostic model and the potential metastatic mechanism in synovial sarcoma.

Background: Several clinical trials have shown that immunotherapy plays a pivotal role in the treatment of patients with metastatic synovial sarcoma. Immune-related genes (IRGs) have been demonstrated to predict the immunotherapy response in certain malignant tumours. However, the clinical significance of IRGs in patients with synovial sarcoma (SS) is still unclear.

Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.

Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. Newborns were prospectively recruited from eight hospitals in China between February and December 2021.

Remimazolam alleviates sleep deprivation induced anxiety-like behaviors via regulating the STING pathway.

Sleep loss becomes a major problem in modern life and increases the incidence of anxiety disorders. Benzodiazepines are the most commonly used anxiolytic medications. Remimazolam is an ultra-short-acting benzodiazepine, which has been shown to reduce the preoperative anxiety levels in patients.

Novel models by machine learning to predict the risk of cardiac disease-specific death in young patients with breast cancer.

Background: With the tremendous leap of various adjuvant therapies, breast cancer (BC)-related deaths have decreased significantly. Increasing attention was focused on the effect of cardiac disease on BC survivors, while limited existing population-based studies lay emphasis on the young age population.

Method: Data of BC patients aged less than 50 years was collected from the SEER database.

Identification of CSPG4 as a Biomarker and Therapeutic Target for Infantile Post-Hemorrhagic Hydrocephalus via Multi-Omics Analysis.

Intraventricular hemorrhage in preterm neonates has become a major global health problem and is associated with a high risk of post-hemorrhagic hydrocephalus (PHH). Identifying diagnostic markers and therapeutic targets is a focal challenge in the PHH prevention and control. Here, this study applies multi-omics analyses to characterize the biochemical, proteomic, and metabolomic profiles of the cerebrospinal fluid (CSF) in clinical human cohorts to investigate disease development and recovery processes occurring due to PHH.

High Prevalence of 5'UTR Mutations in Anaplastic Thyroid Cancer.

Anaplastic thyroid cancer (ATC) is a rare but one of the most lethal types of human cancer. Although increasing evidence demonstrated that ATC tumors had a high mutation burden, little is known about the aberrancy of the noncoding genome of ATC except the well-investigated () promoter mutations. The mutational statuses of 5' untranslated region (5'UTR), intron 6, and promoters, as well as the promoter and mutations were determined using Sanger sequencing in 28 patients with ATC (19 women and 9 men) with a median (interquartile range) age of 64 (55-71) years, 14 thyroid cancer cell lines and a normal thyroid cell line.

Radiographic Characteristics of the Triphalangeal Thumb in Patients With Congenital Thumb Duplication: An Analysis of 383 Thumbs in 368 Children.

Purpose: The purpose of this study was to evaluate the morphologic and radiographic characteristics of the triphalangeal thumb (TPT) in patients with congenital thumb duplication.

Methods: We retrospectively reviewed 368 children with TPT duplication (n = 383). Data on age, sex, and laterality were obtained from medical records.

Mechanistic insights into retinoic-acid treatment for autism in the improvement of social behavior: Evidence from a multi omics study in rats.

Background: Autism spectrum disorder (ASD) is a lifelong condition. It is characterized by complex etiologies, including disruptions in exogenous retinoic acid (RA) signaling, which may serve as an environmental risk factor. Targeting the RA pathway presents a promising therapeutic avenue, though the precise mechanisms remain to be elucidated.

Redefining Neonatal Vitamin A Adequacy and Deficiency Based on Maternal Nutrition: A Cross-Sectional Study in Chongqing, China.

There are no established diagnostic criteria for neonatal vitamin A deficiency (VAD), and applying adult VAD criteria to neonates may overestimate the neonatal VAD rate. This study aimed to evaluate neonatal vitamin A (VA) status and redefine thresholds for neonatal VA adequacy and deficiency based on maternal VA nutrition. A cross-sectional study involving 1901 mother-neonate pairs was conducted in Chongqing, China.

Immunosuppressive SOX9-AS1 Resists Triple-Negative Breast Cancer Senescence Via Regulating Wnt Signalling Pathway.

Long noncoding RNAs (lncRNAs) are involved in the regulation of triple-negative breast cancer (TNBC) senescence, while pro-carcinogenic lncRNAs resist senescence onset leading to the failure of therapy-induced senescence (TIS) strategy, urgently identifying the key senescence-related lncRNAs (SRlncRNAs). We mined seven SRlncRNAs (SOX9-AS1, LINC01152, AC005152.3, RP11-161 M6.

Association between body roundness index and osteoarthritis: a cross-sectional analysis of NHANES 2011-2018.

Objective: The objective of this study was to investigate the potential association between body roundness index (BRI) and the risk of osteoarthritis (OA) in US adults.

Methods: A cross-sectional analysis consisting of 20,232 participants was conducted using data from the National Health and Nutrition Examination Survey (NHANES) from 2011 to 2018. Participants (≥20 years of age) were included and divided into OA and non-OA groups.

METTL3 facilitates kidney injury through promoting IRF4-mediated plasma cell infiltration via an m6A-dependent manner in systemic lupus erythematosus.

Background: Systemic lupus erythematosus (SLE) is an autoimmune disease of unknown cause. N6-methyladenosine (m6A) is the most common mRNA modification and participates in various immune processes such as interferon production and immune cell regulation. However, the role of m6A in dysregulated immune response of SLE remains unknown.

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Background And Aims: Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evaluated. This research aimed to evaluate the outcomes of application of combined genetic and biochemical NBS for G6PD deficiency and to investigate the molecular epidemiological characteristics, variant spectrum, and genotype-phenotype correlation of G6PD deficiency in China.

Methods: A population-based cohort of 29,601 newborns were prospectively recruited from eight NBS centers in China between February 21 and December 30, 2021.

Facilitation of diabetic wound healing by far upstream element binding protein 1 through augmentation of dermal fibroblast activity.

Aims: Diabetes mellitus (DM) often leads to wound healing complications, partly attributed to the accumulation of advanced glycosylation end products (AGEs) that impair fibroblast function. Far Upstream Element Binding Protein 1 (FUBP1) regulates cell proliferation, migration, and collagen synthesis. However, the impact of FUBP1 on diabetic wound healing remains unknown.

Nutritional status and neurodevelopmental levels in infants at high risk of cerebral palsy.

Importance: Nutrition is associated with neurodevelopment. Infants at high risk of cerebral palsy (CP) usually suffer from undernutrition, yet the relationship between nutritional status and neurodevelopmental levels is unclear.

Objective: To describe the nutritional status characteristics of infants at high risk of CP, and to explore the relationship between neurodevelopmental levels and nutritional status.

Transfer RNAs and transfer RNA-derived small RNAs in cerebrovascular diseases.

This article explores the important functions of transfer RNA and - transfer RNA derived small RNAs (tsRNAs) in cellular processes and disease pathogenesis, with a particular emphasis on their involvement in cerebrovascular disorders. It discusses the biogenesis and structure of tsRNAs, including types such as tRNA halves and tRNA-derived fragments, and their functional significance in gene regulation, stress response, and cell signaling pathways. The importance of tsRNAs in neurodegenerative diseases, cancer, and cardiovascular diseases has already been highlighted, while their role in cerebrovascular diseases is in early phase of exploration.

CLEC5A Promotes Neuronal Pyroptosis in Rat Spinal Cord Injury Models by Interacting with TREM1 and Elevating NLRC4 Expression.

Pyroptosis, an inflammatory programmed cell death, has recently been found to play an important role in spinal cord injury (SCI). C-type lectin domain family 5 member A (CLEC5A), triggering receptor expressed on myeloid cells 1 (TREM1), and NLR-family CARD-containing protein 4 (NLRC4) have been reported to be associated with neuronal pyroptosis, but few studies have clarified their functions and regulatory mechanisms in SCI. In this study, CLEC5A, TREM1, and NLRC4 were highly expressed in lidocaine-induced SCI rat models, and their knockdown alleviated lidocaine-induced SCI.