Long-term Neuropsychological Trajectories in Pediatric Epilepsy Patients: Can Surgery Prevent Decline? Patients with long-term drug-resistant epilepsy (DRE) often face severe neuropsychological functional impairments, especially in children, which can significantly impact their academic performance, social relationships, and future employment oppor...

Clinical and Genetic Spectrum Study of Inherited Glycosylphosphatidylinositol Deficiency Disorders (IGDs) Background Introduction The glycosylphosphatidylinositol (GPI) anchoring pathway is crucial for post-translational modification of many important proteins in eukaryotes, which are fundamental for cell signaling and early human neurogenesis and ...

Abnormalities in Fetal Brain MRI in Pyruvate Dehydrogenase Complex Deficiency Background and Research Objective Pyruvate Dehydrogenase Complex Deficiency (PDCD) is a mitochondrial metabolic disorder caused by pathogenic variants in multiple genes, including PDHA1. Classic neonatal brain imaging features have been described, mainly focusing on devel...

E-cigarette Cessation SMS Program: A Randomized Clinical Trial Study Targeting Adolescent E-cigarette Users Background In recent years, e-cigarettes have become the most widely used tobacco product among American adolescents. Statistics from 2023 show that over 2.1 million adolescents reported current use of e-cigarettes, including 10% of high scho...

Pediatric medulloblastoma (MB) is the most common malignant pediatric brain tumor. Due to its unique molecular and clinical characteristics, the treatment of this type of tumor has been a focus of clinical research. Existing treatments mainly include maximal surgical resection, radiotherapy, and chemotherapy, but these treatments often lead to long...

Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...

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...