Amsterdam Neuroscience

APOE ε4 carriership status enhances age-related changes in Alzheimer’s disease plasma biomarkers concentrations

Alzheimer’s disease (AD) plasma biomarkers are cost-effective tools to detect early stage amyloid pathology. We investigated how interactions between AD genetic risk (apolipoprotein E (APOE) ε4, AD polygenic risk score (excluding APOE; PRSAD)), age, and sex affected AD plasma bio...

Identification of stable reference genes for quantitative real-time PCR in human fibroblasts from lymph nodes and synovium

Abstract Real-time quantitative PCR (RT-qPCR) is a widely used method for gene expression analysis; however, its accuracy depends on the selection of stable reference genes for normalization. To date, no study has systematically identified suitable reference genes for primary hum...

Dried Urine Spots for Quantification of C0 (Free) Carnitine Excretion: A Validated Method for Follow-Up and Confirmatory Testing of Primary Carnitine Deficiency

Primary carnitine deficiency (PCD), caused by Organic Cation Transporter Novel 2 (OCTN2) deficiency, is detected by newborn screening (NBS) through low blood free carnitine (C0) concentrations. Confirmation of the diagnosis may be supported by demonstrating increased urinary C0 e...

Generation and Functional Characterization of Cadaver-Derived iPSC-Cardiomyocytes: A Feasibility Study Toward Functional Molecular Autopsy in Sudden Cardiac Death

Sudden cardiac death (SCD) accounts for a substantial share of deaths in young individuals. Despite postmortem pathological, toxicological, and forensic examination and molecular autopsy, many cases remain unexplained, highlighting the need for complementary approaches to investi...

Necroptosis as a key player in cervical cancer progression and management: a systematic review and transcriptomic cross-study consensus analysis

Immunotherapy has improved outcomes for a subset of patients with locally advanced cervical cancer. However, many tumors remain immunologically "cold" and fail to respond. Strategies that enhance tumor immunogenicity are therefore of increasing interest. Necroptosis, a regulated...

The impact of the COVID-19 pandemic on institutionalization and healthcare costs in memory clinic patients

Background The COVID-19 pandemic disrupted healthcare services and daily routines, which may have particularly affected individuals with cognitive impairment or dementia who rely on continuity of care. However, the impact of these disruptions on institutionalization and healthcar...

Towards a suitable biomarker for childhood screening for familial hypercholesterolemia: a systematic literature review

Familial hypercholesterolemia (FH) is a common genetic disorder causing elevated low-density lipoprotein cholesterol (LDL-c) concentrations from birth, resulting in a high risk of premature cardiovascular disease. Despite effective early treatment, FH remains underdiagnosed in ch...

From Sprain to End-Stage Osteoarthritis: Why Earlier Intervention in Ankle Cartilage Damage Deserves More Attention

➢ Ankle cartilage damage ranges from osteochondral lesions of the talus to end-stage osteoarthritis. End-stage ankle osteoarthritis has been associated with a health burden comparable with that of major chronic diseases such as congestive heart failure and kidney disease, while p...

Core outcome set for quality of life of family caregivers of adults with epilepsy: A Delphi consensus study

OBJECTIVE: Epilepsy significantly affects daily functioning and health-related quality of life (HRQOL) of those living with the condition. Less is known about HRQOL of family caregivers of adults with epilepsy, yet the functioning of patients and caregivers is interlinked, and ca...

Impact of Ganglionated Plexus Ablation on Early Recurrence After Thoracoscopic Atrial Fibrillation Ablation: A Post Hoc Analysis of the AFACT Study

ABSTRACT Background Early recurrences of atrial fibrillation (AF) after ablation are often considered transient. However, they may be caused by a combination of temporary and permanent proarrhythmogenic factors. Objective We evaluated whether adjunctive GP ablation was associated...

Gut resilience and clinical homeostasis following administration of neomycin and albendazole in soil-transmitted helminth-infected adults living in Lambaréné, Gabon

Abstract Purpose Gut resilience and systemic homeostasis are interrelated dynamic functions. A gut that fails to regulate intestinal barrier integrity, metabolite production, and immune regulation will lead to systemic pathogenic invasion and susceptibility to infections. Gut res...

EXPRESS: Bayesian networks to estimate prognosis in vascular cognitive impairment and small vessel disease: integrated analyses of interdependent contributors to multiple outcomes

BACKGROUND: Vascular cognitive impairment (VCI) and small vessel disease (SVD) involve interconnected factors influencing multiple outcomes, also beyond cognitive decline. Bayesian networks (BNs) can help unravel these complex interrelations, which we demonstrate in this proof-of...

Mitochondrial carrier SLC25A34 links clock, diet, and temperature control of adipocyte lipid cycling

Adipocyte lipid metabolism is coordinated by circadian rhythms, diet, and environmental temperature, but how these diverse signals are molecularly integrated remains unknown. We showed that these cues converge on the orphan mitochondrial transporter SLC25A34 to orchestrate lipid...

How to Establish a Reference Interval: A Practical Approach.

BACKGROUND: Establishing accurate reference intervals (RIs) is essential for interpreting clinical chemistry laboratory test results and ensuring clinical relevance. The aim of this review is to provide a practical guide to determine RIs using direct and indirect methods. CONTENT...

Metabolic and DNA-based assays provide equally reliable measures of cell viability across experimental conditions

Accurately and reliably assessing cell viability is a fundamental necessity in biomedical research. However, many cytotoxic compounds used in cancer research have both on- and off-target effects on cellular metabolism, which may confound metabolism-based cell viability assessment...

Infections in MonumenTAL-1: a plain language summary of talquetamab treatment for relapsed/refractory multiple myeloma

Plain Language SummaryWhat is this summary about?This summary describes infection and immune cell data of participants receiving talquetamab for relapsed/refractory multiple myeloma (RRMM) in the MonumenTAL-1 study.What were the results?Almost 60% of participants receiving talque...

Discussing menopausal symptoms at work and associations with taboo, symptom severity, and need for recovery after work

Objective: Although the impact of menopausal symptoms at work is increasingly recognized, it remains unclear to what extent and with whom menopausal symptoms that limit work functioning are discussed. We examined this and explored associations with taboo, symptom severity, and ne...

Initial Experience with Pseudomonopolar Local Field Potentials in Deep Brain Stimulation for Parkinson's Disease

BACKGROUND: Local field potentials (LFPs) can assist DBS contact selection in Parkinson's disease (PD). To overcome the spatial uncertainty of bipolar recordings, pseudomonopolar recordings with an onboard algorithm have recently been introduced. OBJECTIVE: To report initial expe...

Minimally invasive needle arthroscopy versus conventional arthroscopy for treatment of bacterial knee arthritis: protocol of a pragmatic, multicenter, randomized, controlled, non-inferiority trial (MINA-TRIAL)

Abstract Background Recent innovation offers the possibility for joint drainage under local anaesthesia for the treatment of bacterial arthritis of the native knee, using minimally invasive needle arthroscopy (MINA). Compared with conventional arthroscopy, MINA enables immediate...

From epidemiology to phenotyping: Characterizing neurologic dysfunction in Sub-Saharan Africans with HIV

Background Neurological complications remain an important manifestation of HIV infection, particularly as advances in diagnosis and antiretroviral therapy have increased survival. Despite this, neurological research in sub-Saharan Africa has remained largely focused on describing...