Publications by authors named "A I Berkel"
Article Synopsis
- Colonoscopy surveillance for colorectal cancer (CRC) can be burdensome for patients, and stool tests might help reduce the need for colonoscopies by identifying individuals at higher risk.
- This study involved 3453 participants aged 50-75 who completed multiple stool tests and colonoscopies to assess the accuracy of these methods for detecting advanced neoplasia.
- Results indicated that stool-based strategies could effectively reduce colonoscopy frequency by 15%-41% while being safer and more cost-effective, particularly with fecal immunochemical tests (FITs), although multitarget stool DNA testing was found to be more expensive.
Background: Pathogenic variants in STXBP1/MUNC18-1 cause severe encephalopathies that are among the most common in genetic neurodevelopmental disorders. Different molecular disease mechanisms have been proposed, and pathogenicity prediction is limited. In this study, we aimed to define a generalized disease concept for STXBP1-related disorders and improve prediction.
View Article and Find Full Text PDFBackground: The incidence of T1 colorectal cancer (CRC) has increased with the implementation of CRC screening programs. It is unknown whether the outcomes and risk models for T1 CRC based on non-screen-detected patients can be extrapolated to screen-detected T1 CRC. This study aimed to compare the stage distribution and oncologic outcomes of T1 CRC patients within and outside the screening program.
View Article and Find Full Text PDFArticle Synopsis
- The study investigates a neurodevelopmental disorder (-RD) caused by mutations in the MUNC18-1 gene, leading to symptoms like developmental delay and seizures, with varying severity among patients.
- Using advanced techniques, researchers analyzed neurons derived from patients' stem cells, finding reduced levels of the MUNC18-1 protein, along with dysregulated proteins linked to synapse function and altered neuronal network activity.
- The findings reveal common cellular traits across patients with -RD while also highlighting distinct phenotypic differences, suggesting varied underlying mechanisms of the disorder that could inform future research and therapy development.
Objective: This study determined patterns of knee osteoarthritis (OA) management by general practitioners (GPs) using routine healthcare data from Dutch general practices from 2011 to 2019.
Design: A retrospective cohort study was conducted using the Integrated Primary Care Information database between 2011 and 2019. Electronic health records (EHRs) of n = 750 randomly selected knee OA patients (with either codified or narrative diagnosis) were reviewed against eligibility criteria and n = 503 patients were included.