Publications by authors named "Floris Van Damme"
Introduction: Flat epithelial atypia (FEA), lobular neoplasia (LN), papillary lesions (PL), radial scar (RS) and atypical ductal hyperplasia (ADH) are lesions of uncertain malignant potential and classified as B3 lesions by the European guidelines for quality assurance in breast cancer screening and diagnosis. Current management is usually wide local excision (WE), surveillance may be sufficient for some. We investigated the upgrade rate of B3 lesions to breast malignancy in a subsequent resection specimen after diagnosis on core needle-or vacuum assisted biopsy (CNB-VAB) in a national population-based series.
View Article and Find Full Text PDFImportance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.
Objective: To identify the genetic variants associated with juvenile ALS.
Design, Setting, And Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation.
Article Synopsis
- - The study aimed to find new genes linked to ALS by conducting a genome-wide association study with over 20,000 ALS patients and nearly 60,000 controls, as well as a rare variant analysis comparing familial ALS cases to controls.
- - Researchers identified KIF5A as a novel gene associated with ALS, noting that mutations in different regions of KIF5A are responsible for other neurodegenerative diseases, such as hereditary spastic paraplegia and Charcot-Marie-Tooth disease.
- - Interestingly, ALS patients with certain loss-of-function mutations in KIF5A had longer survival compared to typical cases, suggesting a complex role of KIF5A mutations in ALS pathology and emphasizing the importance of cytoskeletal