Publications by authors named "K Ruether"
Introduction: This study aimed to i) identify the care needs of families experiencing cardiac arrest; and ii) co-identify strategies for meeting the identified care needs. Cardiac arrest survivors and family members (of survivors and non-survivors) were engaged as "experience experts," collaborators and co-researchers in this study.
Methods: A qualitative study using semi-structured interviews of cardiac arrest survivors and family members was conducted.
Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in numerous genes associated with these conditions has deepened our understanding of the molecular pathways that influence both vision and disease manifestation and may ultimately lead to novel therapeutic approaches. Over the past 18 years, our DNA diagnostics unit has been performing genetic testing on patients suspected of having IRD or ION, using state-of-the-art mutation detection technologies that are continuously updated.
View Article and Find Full Text PDFIntroduction: Cardiac arrest care systems are being designed and implemented to address patients', family members', and survivors' care needs. We conducted a systematic review and a meta-synthesis to understand family experiences and care needs during cardiac arrest care to create treatment recommendations.
Methods: We searched eight electronic databases to identify articles.
Article Synopsis
- The study aimed to analyze and compare allele frequencies of ion channel-related genes linked to sudden cardiac death across various ethnic groups, including Black, Caucasian, Asian, and Hispanic.
- A systematic review and meta-analysis of 18 studies conducted up to 2015 indicated that Asians exhibited the highest mean allele frequencies for certain genes while Caucasians and Hispanics had notable frequencies for others.
- Findings from this analysis were supported by genomic data from the Exome Aggregation Consortium, highlighting significant differences in allele distributions among the studied ethnicities.