Publications by authors named "D Bruegger"
Article Synopsis
- Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder marked by a variety of symptoms including growth delays, upper limb issues, and other systemic problems, primarily caused by mutations in specific genes associated with the cohesin complex.
- The majority of CdLS cases (over 60%) are linked to mutations in the NIPBL gene, which leads to the most severe form of the syndrome; other cohesin gene mutations typically result in milder symptoms.
- The study analyzed the genetic factors in 716 individuals with CdLS to better understand the contributions of cohesin complex genes and identify potential new candidate genes, improving knowledge of genetic variations and their effects on CdLS manifestations.
Purpose: The purpose of this study was to assess the feasibility of detecting relative afferent pupillary defects (RAPDs) using a commercial virtual reality headset equipped with an eye tracker.
Methods: This is a cross-sectional study in which we compare the new computerized RAPD test with the traditional clinical standard using the swinging flashlight test. Eighty-two participants including 20 healthy volunteers aged 10 to 88 years were enrolled in this study.
Background: Optic neuritis usually leads to reduced color sensitivity. Most often, the change of red color, the so-called red desaturation, is tested in clinical routine. The aim of this study was to test the feasibility of the Reddesa chart, a new red desaturation test based on polarization, as a screening method for optic neuropathy.
View Article and Find Full Text PDFPrediction of cortical theta oscillations in humans for phase-locked visual stimulation.
J Neurosci Methods
September 2021
Background: The timing of an event within an oscillatory phase is considered to be one of the key strategies used by the brain to code and process neural information. Whereas existing methods of studying this phenomenon are chiefly based on retrospective analysis of electroencephalography (EEG) data, we now present a method to study it prospectively. New method: We present a system that allows for the delivery of visual stimuli at a specific phase of the cortical theta oscillation by fitting a sine to raw surface EEG data to estimate and predict the phase.
View Article and Find Full Text PDFDelirium is a common and major complication subsequent to cardiac surgery. Despite scientific efforts, there are no parameters which reliably predict postoperative delirium. In delirium pathology, natriuretic peptides (NPs) interfere with the blood-brain barrier and thus promote delirium.
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