Publications by authors named "A Holtz"
Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.
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- The study focuses on SARS-CoV-2 lineage B.1.214.2, identified in Belgium in January 2021, which has a mutation that may affect its transmissibility and immune evasion, similar to the Omicron variant.
- This variant spread significantly in Central Africa and Europe, with its origin traced back to the Republic of the Congo, and its transmission correlated with human travel patterns.
- In Belgian nursing homes, the variant led to moderately severe outcomes, and unique immune responses in elderly patients suggest a need for targeted nasal vaccine strategies against emerging variants.
Cloud Readiness of German Hospitals: Development and Application of an Evaluation Scale.
Stud Health Technol Inform
August 2024
Background: In the context of the telematics infrastructure, new data usage regulations, and the growing potential of artificial intelligence, cloud computing plays a key role in driving the digitalization in the German hospital sector.
Methods: Against this background, the study aims to develop and validate a scale for assessing the cloud readiness of German hospitals. It uses the TPOM (Technology, People, Organization, Macro-Environment) framework to create a scoring system.
Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders and congenital abnormalities. ATXN7L3 is a component of the DUB module of the Spt-Ada-Gcn5 acetyltransferase (SAGA) complex and two other related DUB modules, and it serves as an obligate adaptor protein of three ubiquitin-specific proteases (USP22, USP27X or USP51).
View Article and Find Full Text PDFBackground: Parkinson's disease (PD) is caused by the misfolding and aggregation of α-synuclein in neurons into toxic oligomers and fibrils that have prion-like properties allowing them to infect healthy neurons and to be transmitted to animal models of PD by injection or oral exposure. Given α-synuclein fibrils' potential transmission on the gut-brain axis, α-synuclein may be transmitted through colonoscopy procedures.
Objective: This study examines a possible association between colonoscopy and PD.