Publications by authors named "Berkel A"
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.
Purpose: This study aimed to investigate the association of effort-independent variables derived from the preoperative cardiopulmonary exercise test (CPET) with 30-day postoperative complications after elective colorectal surgery.
Methods: A multicenter (n=4) retrospective explorative study was performed using data of patients who completed a preoperative CPET and underwent elective colorectal surgery. The preoperative slope of the relation between minute ventilation and carbon dioxide production (VE/VCO-slope) and the oxygen uptake efficiency slope (OUES), as well as 30-day postoperative complications, were assessed.
Background: Despite the huge burden of hip osteoarthritis (OA) and the lack of effective treatment, research into the primary prevention of hip OA is in its infancy.
Purpose: We sought to evaluate risk factors for incident clinical and incident radiographic hip OA among middle-aged and older adults, to evaluate the importance of risk factors from a preventive perspective, and to estimate the percentage of new cases attributable to these risk factors.
Methods: We retrospectively reviewed data from the Rotterdam study, an open-population cohort study of individuals aged 55 years or older.
The additive value of CA19.9 monitoring in a pancreatic cyst surveillance program.
United European Gastroenterol J
September 2023
Background: Surveillance of pancreatic cysts focuses on the detection of (mostly morphologic) features warranting surgery. European guidelines consider elevated CA19.9 as a relative indication for surgery.
View Article and Find Full Text PDFObjective: To explore the prevalence of nocturnal pain and fatigue in participants with hip symptoms suspected to be early osteoarthritis (OA) and to test the mediating effect of nocturnal pain on the association between hip OA pain and fatigue.
Methods: We included participants with hip pain but no knee pain at baseline, from the Cohort Hip and Cohort Knee (CHECK)-study. Severity of hip OA pain was determined using the Numeric-Rating-Scale-pain-score last week.
Article Synopsis
- - Depletion of presynaptic proteins MUNC18-1 and syntaxin-1 leads to a unique type of neuron-specific degeneration that is independent of typical synaptic vesicle issues and manifests through distinct characteristics.
- - Unlike classical apoptosis, where cell death and neurite retraction occur simultaneously, neurons lacking these proteins experience a sequence of neurite retraction followed by delayed activation of apoptosis markers.
- - The study highlights that this atypical neuronal cell death pathway does not involve other known pathways like necroptosis or autophagy, underscoring the complexity of neuronal survival and death mechanisms.
Article Synopsis
- Induced pluripotent stem cells (iPSCs) are increasingly used for modeling brain disorders, but there's a lack of clarity on the best study designs and statistical analyses.
- The researchers compared different study designs, generating various types of data from iPSC-derived neurons, and found that many existing studies are underpowered.
- They discovered that using isogenic iPSC lines offers more statistical power compared to traditional case-control designs and introduced a free online tool to help researchers optimize study designs based on preliminary data.
Absence of presynaptic protein MUNC18-1 (gene: ) leads to neuronal cell death at an immature stage before synapse formation. Here, we performed transcriptomic and proteomic profiling of immature knockout (KO) cells to discover which cellular processes depend on MUNC18-1. Hippocampi of KO mice showed cell-type specific dysregulation of 2123 transcripts primarily related to synaptic transmission and immune response.
View Article and Find Full Text PDFObjectives: To assess the associations of biomarkers in serum [highsensitivity C-reactive protein (hs-CRP), serum cartilage oligomeric protein (sCOMP), serum propeptide of type I procollagen (sPINP) and serum osteocalcin (sOC)] and urine [urinary type II collagen telopeptide (uCTX-2)] with the extent and progression of nocturnal pain, pain while walking, and fatigue in participants with hip and/or knee pain suspected to be early stage osteoarthritis (OA).
Methods: hs-CRP, uCTX-2, sCOMP, sPINP and sOC were measured at baseline in 1,002 participants of the Cohort Hip and Cohort Knee (CHECK). Nocturnal pain, pain while walking and fatigue were assessed by self-reported questionnaires at baseline and 2-year follow-up.
Objectives: Based on germline and somatic mutation profiles, pheochromocytomas and paragangliomas (PPGLs) can be classified into different clusters. We investigated the use of [F]FDG-PET/CT radiomics, SUV and biochemical profile for the identification of the genetic clusters of PPGLs.
Methods: In this single-centre cohort, 40 PPGLs (13 cluster 1, 18 cluster 2, 9 sporadic) were delineated using a 41% adaptive threshold of SUV ([F]FDG-PET) and manually (low-dose CT; ldCT).
Objective: To explore characteristics of nocturnal pain and to identify differences in participants' characteristics and osteoarthritis (OA) symptoms between hip and knee OA participants with and without nocturnal pain.
Methods: Data for this exploratory cross-sectional study were obtained from an online survey, distributed through social media and patient associations in the period from April 2020 until May 2020, which was conducted in 101 participants with (self-reported) hip or knee OA. Descriptive statistics were used to provide insight into the characteristics of the study population.
A free resection margin (FRM) > 1 mm after local excision of a T1 colorectal cancer (CRC) is known to be associated with a low risk of local intramural residual cancer (LIRC). The risk is unclear, however, for FRMs between 0.1 to 1 mm.
View Article and Find Full Text PDFObjectives: To evaluate the prevalence during a 10-year follow-up of clinically relevant fluctuations in pain and the course of hip pain in participants with hip complaints suspected to be early stage hip osteoarthritis (OA). To distinguish between participants with relevant fluctuations in pain and those without based on baseline characteristics.
Methods: Data were collected at baseline and after 2, 5, 8, and 10 years on 495 participants from the Cohort Hip and Cohort Knee Study (CHECK) with hip pain at baseline.
Article Synopsis
- * A majority of participants exhibit neurodevelopmental issues (95%) and seizures (89%), with common seizure types and early onset, underscoring the severity of STXBP1-related conditions.
- * Despite identifying frequent genetic variants, no specific associations were found between these variants and particular clinical syndromes, indicating a high level of variability in the clinical presentation of STXBP1-related disorders.
Introduction: Local full-thickness resections of the scar (FTRS) after local excision of a T1 colorectal cancer (CRC) with uncertain resection margins is proposed as an alternative strategy to completion surgery (CS), provided that no local intramural residual cancer (LIRC) is found. However, a comparison on long-term oncological outcome between both strategies is missing.
Methods: A large cohort of patients with consecutive T1 CRC between 2000 and 2017 was used.
syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the gene and is characterized by psychomotor delay, early-onset developmental delay, and epileptic encephalopathy. Pathogenic variants are thought to alter excitation-inhibition (E/I) balance at the synaptic level, which could impact neuronal network dynamics; however, this has not been investigated yet. Here, we present the first EEG study of patients with syndrome to quantify the impact of the synaptic E/I dysregulation on ongoing brain activity.
View Article and Find Full Text PDFBackground: Histologic examination of resected pancreatic cancer after neoadjuvant therapy (NAT) is used to assess the effect of NAT and may guide the choice for adjuvant treatment. However, evaluating residual tumor burden in pancreatic cancer is challenging given tumor response heterogeneity and challenging histomorphology. Artificial intelligence techniques may offer a more reproducible approach.
View Article and Find Full Text PDFAim: Although cardiopulmonary exercise testing (CPET) is considered the gold standard, a preoperative abdominal CT scan might also provide information concerning preoperative aerobic fitness for risk assessment. This study aimed to investigate the association between preoperative CT-scan-derived body composition variables and preoperative CPET variables of aerobic fitness in colorectal surgery.
Method: In this retrospective cohort study, CT images at level L3 were analysed for skeletal muscle mass, skeletal muscle radiation attenuation, visceral adipose tissue (VAT) mass and subcutaneous adipose tissue mass.