Publications by authors named "R J Bauer"
Article Synopsis
- - Timothy syndrome, caused by variants in the CACNA1C gene, was originally recognized for its cardiac symptoms (long QT syndrome) and physical abnormalities (syndactyly), but more recent research has unveiled a wider range of symptoms associated with different CACNA1C variants.
- - A survey was conducted with parents of Timothy syndrome patients to gather information on various symptoms, grouping participants by genetic type and initial diagnosis to compare their conditions.
- - The study found that patients commonly show both cardiac and extra-cardiac symptoms, such as neurodevelopmental issues and respiratory problems, regardless of their classification, indicating that the current understanding of "non-syndromic" cases may not fully capture the complexity of the disease.
Largely ignored-but pathogenetically significant: ambient temperature in rodent sepsis models.
Intensive Care Med Exp
November 2024