Correlation between Erf Gene Loss-of-Function Variants and Noonan Syndrome-like Phenotype - With or Without Craniosynostosis Research Background Members of the ETS transcription factor family play a crucial role in RAS-MAPK signal transduction, regulating the expression of “early response” genes and other functionally related genes. Among them, ETS...
DNA methylation analysis in Kabuki syndrome: reclassification of germline KMT2D variants Background Kabuki syndrome (KS) is a rare multiple congenital anomaly/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements in the KMT2D gene. Although KS is recognizable due to its distinctive facial features, di...
Feasibility Study of Opportunistic Genomic Screening in Pediatric Cancer Patients and Its Family Acceptance Research Background With the development and application of genomic medicine, the care for patients with severe diseases is gradually being optimized. Especially in the field of childhood cancer, whole-genome series DNA testing has become an ...
DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...
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...