Erasmus MC

The Dutch cardiomyopathy registry (DCR); rationale and registry design

BACKGROUND: Cardiomyopathies are important causes of arrhythmias, sudden cardiac death, and heart failure. With accumulating knowledge in clinical, genetic, and molecular phenotyping, the number of distinct disease entities is growing. There is a need for broad, inclusive, high-q...

The Effect of Antenatal Paracetamol on Breathing Effort of Premature Infants at Birth: A Feasibility Trial

Background: Prostaglandin E2 (PGE2) suppresses perinatal breathing. Reducing antenatal PGE2 concentrations with paracetamol could stimulate spontaneous breathing in premature infants at birth. We aimed to assess feasibility and potential effects of antenatal paracetamol. Methods:...

Durability of wrist denervation for osteoarthritis: a multicentre outcome study

INTRODUCTION: Traditional surgical treatments for wrist osteoarthritis, such as arthrodesis or arthroplasty, are invasive and irreversibly compromise joint motion. Wrist denervation offers a less invasive alternative aimed at pain relief while preserving mobility. However, its du...

Concordance between plasma biomarkers of phosphorylated tau and tau-PET: A narrative review

Plasma phosphorylated tau (p-tau) and tau positron emission tomography (PET) are key biomarkers for detecting tau pathology in Alzheimer's disease (AD), offering both diagnostic and prognostic value. However, the concordance between plasma p-tau (p-tau217/p-tau181/p-tau231) posit...

Osteochondral Autograft Options for Reconstruction of Intra-articular Distal Humerus and Proximal Ulna Injuries in Physiologically Young Patients

Purpose Surgical options are limited for distal humerus and proximal ulna injuries with articular bone loss in physiologically young patients. Osteochondral grafts are a potential treatment option between open reduction internal fixation and arthroplasty that does not impart life...

Exploring patients’ experiences and perceptions of manipulation under anesthesia for stiffness after total knee arthroplasty: a qualitative study

Purpose To gain in-depth insight into the experiences and perceptions of patients requiring manipulation under anesthesia (MUA) for persistent stiffness after total knee arthroplasty (TKA).Material and methods A pragmatic qualitative study using the interpretive description appro...

Prevalence and severity of pubic symphysis radiographic findings in male and female sub-elite football players with and without hip and/or groin pain

OBJECTIVE: To determine the prevalence and severity of radiographic features of the pubic symphysis in sub-elite football players (soccer and Australian football) with and without hip and/or groin pain, and to compare these features between men and women. MATERIALS AND METHODS: T...

Distinct gut microbial signatures associated with disease onset and clinical course in Guillain–Barre syndrome

The Gut microbiota is crucial for regulating immune responses in autoimmune neuropathies like Guillain–Barré syndrome (GBS). Yet, its influence on disease course and recovery remains unclear. This study examined gut microbiota dysbiosis in 57 GBS patients and 57 age- and gender-m...

Quantitative biochemical profiling of GCase activity and α-synuclein proteoforms in post-mortem human brains from GBA-related and idiopathic Parkinson’s disease

Variants in GBA1 , encoding lysosomal glucocerebrosidase (GCase), are risk factors for Parkinson’s disease (PD), which is characterized by α-synuclein (αSyn) accumulation and lysosomal dysfunction. Nonetheless, the relationship between αSyn accumulation and GCase deficiency remai...

Validation of an Automated Artificial Intelligence‐Driven Planner for Transcatheter Aortic Valve Replacement

BACKGROUND: Preprocedural planning with multislice computed tomography (MSCT) is an essential prerequisite for successful transcatheter aortic valve replacement (TAVR). However, preprocedural planning is time-consuming and may contain clinically meaningful interobserver variabili...

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification

Purpose: To assess the pathogenicity of a novel duplication in the RP17 locus identified in a cone dystrophy proband with biallelic CEP290 variants. Structural variants (SVs) in this locus have previously been associated with dominant retinitis pigmentosa. Methods: Inheritance of...

Prognostic Stratification of Brain Metastases from Nonanaplastic Follicular Cell–Derived Thyroid Carcinoma: Results of an International Multicenter Retrospective Study

Background: Brain metastases (BMs) from nonanaplastic follicular cell–derived thyroid carcinoma (hereinafter referred to as non-ATC) are rare and not well characterized, with limited evidence guiding treatment and prognostic stratification. We aimed to describe clinical features,...

HIV-1 reservoir inducibility and immune phenotypes after prolonged analytical treatment interruption: a long-term follow-up study

BACKGROUND: Despite effective suppression of HIV-1 replication by antiretroviral therapy (ART), persistent viral reservoirs prevent cure and necessitate lifelong treatment. While short-term dynamics of HIV-1 rebound following treatment interruption have been extensively studied,...

Multifeature sequencing-based liquid biopsy for cancer diagnosis and monitoring

Abstract Liquid biopsy has emerged as a transformative development in oncology, enabling the minimally invasive detection and monitoring of cancer through the analysis of tumor-derived material in blood. Moving beyond single-variable analysis, multifeature sequencing-based liquid...

Prolonged puncturing decreases ventriculoperitoneal shunt insertion rate in neonates with posthemorrhagic ventricular dilatation

PURPOSE: Posthemorrhagic ventricular dilatation (PHVD) is a frequent complication of intraventricular hemorrhage (IVH) in preterm infants and is associated with increased neurodevelopmental morbidity. Following national Dutch guidelines, infants with PHVD are generally punctured...