Publications by authors named "Shan Yu Gao"
Article Synopsis
- * A Chinese family with HSP was studied, where the main patient originally presented symptoms like restless leg syndrome and insomnia, leading to a diagnosis of spastic paraplegia.
- * Whole-exome sequencing identified a novel splice-altering variant (c.712-2A>G) in the gene, which was verified through further analysis; this variant affects gene expression related to the WASH complex and endosomal/lysosomal systems and contributes to HSP,
A 34-year-old female with stiff-person syndrome (SPS) is reported in this paper. She experienced short-term memory impairment and was diagnosed with anti-glutamic acid decarboxylase (GAD) autoimmune encephalitis (AE) at the local hospital. However, after the treatment with intravenous immunoglobulin and high-dose glucocorticoids, her symptoms unchanged.
View Article and Find Full Text PDFPreoperative prediction of lymph node (LN) metastasis is accepted as a crucial independent risk factor for treatment decision-making for esophageal squamous cell carcinoma (ESCC) patients. Our study aimed to establish a non-invasive nomogram to identify LN metastasis preoperatively in ESCC patients. Construction of the nomogram involved three sequential phases with independent patient cohorts.
View Article and Find Full Text PDF