Publications by authors named "Sha Sa"
Article Synopsis
- Alström syndrome (ALMS) is a rare genetic disorder caused by mutations in the ALMS1 gene, characterized by symptoms such as retinal dystrophy, obesity, hearing loss, and type 2 diabetes.
- A 10-year-old Chinese girl with ALMS was studied, revealing novel genetic variants through advanced sequencing methods, including a frameshift mutation and a large deletion in the ALMS1 gene.
- The study concluded that these new genetic findings enhance the understanding of ALMS1 mutations and provide valuable clinical insights into the syndrome, especially in patients with unique structural anomalies like cor triatriatum sinister (CTS).
Objectives: This study aimed to establish and evaluate the efficacy of a prediction model for colorectal cancer T-staging.
Results: T-staging was positively correlated with the level of carcinoembryonic antigen (CEA), expression of carbohydrate antigen 19-9 (CA19-9), wall deformity, blurred outer edges, fat infiltration, infiltration into the surrounding tissue, tumor size and wall thickness. Age, location, enhancement rate and enhancement homogeneity were negatively correlated with T-staging.