Publications by authors named "L B de Vries"
Background Hemimegalencephaly (HME) is a rare congenital disorder that is initiated during embryonic development with abnormal growth of one hemisphere. Tuberous sclerosis complex (TSC), a genetic disorder, is rarely associated with HME. Methods We present a case of a newborn with HME with a confirmed mutation in the TSC-1 gene and describe the clinical course, findings on (amplitude integrated) electroencephalography (aEEG), cranial ultrasound (CUS), MRI, and the postmortem evaluation.
View Article and Find Full Text PDFIntroduction: Some individuals show intact cognition despite the presence of neuropathological hallmarks of Alzheimer's disease (AD). The plasticity of parvalbumin (PV)-containing interneurons might contribute to resilience. Perineuronal nets (PNNs), that is, extracellular matrix structures around neurons, modulate PV neuron function.
View Article and Find Full Text PDFObjective: Analyzing population trends of bone shape variation can provide valuable insights into growth processes. This review aims to overview state-of-the-art spatiotemporal statistical shape modeling techniques, emphasizing their application to 3D skeletal structures during healthy growth.
Methods: We searched PubMed and Scopus for articles on statistical shape modeling using a pediatric spatiotemporal dataset of 3D healthy bone models.
Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset.
Methods: A meta-analysis of case reports was performed on individuals with genetically proven MoCD retrieved through a systematic review and in-house search.
Article Synopsis
- The study investigates how surviving malaria parasites interact with mosquito midgut cells to form oocysts, which are crucial for producing infectious sporozoites.
- Using single-cell RNA sequencing, researchers explored developmental transitions and mosquito-parasite interactions over time and different metabolic conditions.
- Key findings include the essential role of a transcription factor called SIP2 for infecting human liver cells, and the discovery of mechanisms that help parasites adhere to the midgut without causing damage, providing potential targets for stopping malaria transmission.