Publications by authors named "C A Minderhoud"
Article Synopsis
- - This study focuses on understanding how disease characteristics and quality of life evolve across different life stages for individuals with Dravet syndrome and related seizure disorders, aiming to help doctors provide better personalized care.
- - Researchers gathered data through questionnaires, medical records, and interviews, tracking changes in health-related quality of life over a seven-year period, with particular attention to how different factors impact patient well-being.
- - Findings show that Dravet syndrome patients reported lower quality of life compared to those with non-Dravet conditions, although older Dravet patients exhibited improved quality of life, which was linked to fewer behavioral issues and better physical independence.
Background: A pathogenic variant in SCN1A can result in a spectrum of phenotypes, including Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS + ) syndrome. Dravet syndrome (DS) is associated with refractory seizures, developmental delay, intellectual disability (ID), motor impairment, and challenging behavior(1,2). GEFS + is a less severe phenotype in which cognition is often normal and seizures are less severe.
View Article and Find Full Text PDFNovel biomarkers are needed to improve current imperfect risk prediction models for cancer-associated thrombosis (CAT). We recently identified an RNA-sequencing profile that associates with CAT in colorectal cancer (CRC) patients, with REG4, SPINK4, and SERPINA1 as the top-3 upregulated genes at mRNA level. In the current study, we investigated whether protein expression of REG4, SPINK4 and alpha-1 antitrypsin (A1AT, encoded by SERPINA1) in the tumor associated with CAT in an independent cohort of CRC patients.
View Article and Find Full Text PDFGastrointestinal and eating problems in SCN1A-related seizure disorders.
Epilepsy Behav
September 2023
Objective: Our study aimed to describe the prevalence and characteristics of gastrointestinal and eating problems in Dravet syndrome (DS) and other SCN1A-related seizure disorders and to determine the association between the occurrence of gastrointestinal and eating problems and core features of DS.
Methods: Gastrointestinal and eating problems were assessed with a questionnaire in a Dutch cohort of participants with an SCN1A-related seizure disorder. Associations between the number of gastrointestinal and eating problems and core features of DS, seizure severity, level of intellectual disability, impaired mobility, behavioral problems, and use of anti-seizure medication, were explored by multivariate ordinal regression analyses.
Aims: We addressed the question whether chronic kidney disease (CKD) may contribute to cognitive decline in type 2 diabetes.
Methods: Participants with type 2 diabetes with elevated cardiovascular risk or CKD from cognition substudies of two large trials were studied prospectively (CARMELINA: n = 2666, mean ± SD age 68.1 ± 8.