Instant Inclusion: In-depth Analysis of Uncertainties Experienced by Parents of Newborns with Severe Combined Immunodeficiency Research Background Severe Combined Immunodeficiency (SCID) is a rare and potentially fatal genetic disorder. Without timely diagnosis and treatment, patients face life-threatening conditions. In recent years, early identif...
This study aims to explore the relationship between copy number variations (CNVs) involving the NR0B1 (DAX1) gene and 46,XY gonadal dysgenesis. 46,XY gonadal dysgenesis (GD) is a disorder of sex development caused by the failure of gonads to fully differentiate into testes. This condition can lead to individuals presenting with female or ambiguous ...
Changes in Cerebral Cortical Information Interaction During Obstructive Sleep Apnea Hypopnea Syndrome in Children Background Introduction: Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) in children is a common sleep-disordered breathing condition characterized by repetitive partial or complete obstruction of the upper airway during sleep, often ...
TREM2 Expression on Mouse Astrocytes Prevents Sevoflurane-Induced Developmental Neurotoxicity Through Microglial Pruning of Dendritic Spines in Hippocampal CA1 Region Research Background and Significance Sevoflurane is one of the most widely used anesthetics in pediatric anesthesia. Early multiple exposures to sevoflurane can lead to developmental ...
B-cell Response in Pediatric Acute Transverse Myelitis Acute transverse myelitis (ATM) is an autoimmune-mediated inflammatory disease of the spinal cord with an incidence of 1.7-2 cases per million children per year. ATM typically presents with limb weakness, sensory loss, and bladder/bowel dysfunction, with symptoms rapidly developing over hours t...
Neonatal Respiratory Infections Lead to Brainstem Neuroinflammation Introduction Respiratory infections are one of the most common diseases and causes of morbidity among newborns. During the acute phase, infections are known to cause widespread peripheral inflammation. However, the effect of this inflammation on the critical neural centers that con...
Association of Adverse Transcriptomic Subtypes of Non-WNT/Non-SHH Medulloblastoma with the Dominance of Proliferative and Progenitor-like Subpopulations Research Background Medulloblastoma (MB) is one of the most common malignant tumors of the central nervous system in children. Based on molecular characteristics, the medical community typically cl...
Background Research Background: Both intrinsic and extrinsic factors in the tumor microenvironment (TME) can lead to treatment resistance. This paper reveals that the Transforming Growth Factor (TGF)-β1 produced within the TME increases drug resistance in neuroblastoma (NB) cells. Drug resistance is the main cause of cancer treatment failure, usual...
Improved Segmentation of Pediatric Low-Grade Gliomas Through Multitask Learning Background Introduction The segmentation of pediatric brain tumors is a critical task in tumor volume analysis and artificial intelligence algorithms. However, this process is time-consuming and requires the expertise of neuroradiologists. Although significant research ...
St. Jude Survivorship Portal: Analysis and Sharing of Large-Scale Clinical and Genomic Data of Pediatric Cancer Survivors Research Background In the United States, the five-year survival rate for childhood cancer has increased from about 60% in the 1970s to over 85% today. Despite the significant improvement in survival rates, these childhood cance...