Publications by authors named "Yuexu Ou"
Background: The ryanodine receptor 3 () is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum and subsequent T-tubule depolarization. It is also expressed in the brain, and variants in the gene can lead to congenital myopathy type 20 (MIM: #620310).
Methods: We retrospectively analyzed the clinical characteristics and prognosis of a case of West syndrome, developmental and epileptic encephalopathy (DEE) caused by a missense variant in the RYR3 gene.
Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation.
Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity.
Methods: From January 2015 to March 2022, four children diagnosed with CFCS in Children's Hospital of Chongqing Medical University were included for analysis.
Objective: The objective of this study was to investigate the clinical and laboratory features of acute benign myositis associated with influenza A virus infection in children.
Methods: A retrospective analysis was performed on the clinical data of 118 children with acute benign myositis associated with influenza A virus infection who were admitted to the Children's Hospital of Chongqing Medical University during the epidemic period of influenza A from February 2023 to May 2023.
Results: (1) Most of the 118 children were preschool- or school-age.