Cardiotoxicity, heart damage caused by certain medications, is a major reason why drugs are withdrawn from the market, even after they’ve been approved. This not only leads to high costs for pharmaceutical companies, but also puts patients at serious risk. Our research aims to address this by creating a more …

When the brain is active, such as during thinking or speaking, it consumes glucose. Dynamic [18F]-FDG PET imaging is a technique that specifies when and where glucose is being consumed. This reveals patterns of activity between regions over time and how they are connected based on glucose consumption, also known …

The development and application of in cellulo thermal proteome profiling assays in this study enabled a deeper investigation into the molecular mechanisms of the pathogenic NAA10 p.R83C variant. These findings offer novel insights into NAA10 function in the context of NAA10-related syndrome, a rare and currently understudied disorder. While the …

Cardiovascular diseases claim an estimated 17.9 million lives each year, making them the leading cause of death worldwide and placing an enormous burden on healthcare systems. There is an urgent need for better ways to prevent and treat these diseases and that starts with improving how we study the human …

Summary Background: Mutational clonality arises when somatic mutations confer a growth advantage, leading to clonal expansion of genetically identical cells. These clones often harbor cancer-associated driver mutations and have been identified in normal tissues such as colon, oesophagus and bronchus, but remain unexplored in the head and neck region. Mapping …

This study focuses on evaluating magnetic source imaging (MSI) as a tool in the presurgical evaluation of patients with refractory mesial temporal lobe epilepsy (mTLE), with the aim of more accurately localizing the epileptogenic zone (EZ). By improving this, MSI has the potential to enhance surgical planning and outcomes, addressing …

Deze masterproef wil de aandacht vestigen op een onderwerp dat van vitaal belang is voor onze gezondheid en welzijn: de rol van mitochondriale DNA (mtDNA) varianten bij een humane ziekte zoals cardiomyopathie bij volwassenen. Cardiomyopathie is een aandoening die het hartspierweefsel aantast en zo kan leiden tot ernstige gezondheidscomplicaties, waaronder …

Maatschappelijk outreach Populariserende samenvatting Coarctatio aortae (CoA) is een aangeboren aandoening waarbij de aorta, de grote slagader die het bloed van het hart naar de rest van het lichaam transporteert, vernauwd is. Indien deze vernauwing niet tijdig gediagnosticeerd en behandeld wordt, kan dit potentieel dodelijk zijn bij pasgeborenen of leiden …

Somatisch mozaïcisme is een fenomeen waarbij er na de bevruchting tijdens de ontwikkeling van de embryo een fout in het DNA terechtkomt, waardoor er een bepaald aantal cellen een fout in het DNA krijgt. Dit leidt ertoe dat bepaalde cellen in het lichaam andere genetische informatie bevatten dan de rest. …

SOCIETAL IMPACT Each year 50,000 stem cell transplants are performed world-wide, providing a crucial, often last-resort treatment for patients with conditions ranging from leukaemia to various congenital diseases. Many of these patients are children, for whom this treatment has a profound impact on their development, both socially and academically. These …