Publications by authors named "K Hruska"
Article Synopsis
- The ongoing GUARDIAN study aims to evaluate the feasibility and acceptability of genome sequencing as an addition to traditional newborn screening across diverse racial and ethnic groups in New York City.
- As of the interim analysis covering 4,000 newborns, 72% of approached families consented to participate, reflecting a representative sample of various racial and ethnic demographics.
- The study primarily assessed the screen-positive rate, enrollment rate, and successful sequencing completion, with a large majority of families opting to screen for both early-onset genetic conditions and additional neurodevelopmental disorders.
Purpose: Research is underway worldwide to investigate the feasibility, acceptability, and utility of sequencing-based newborn screening. Different methods have been used to select gene-condition pairs for screening, leading to highly inconsistent gene lists across studies.
Methods: Early Check developed and utilized actionability-based frameworks for evaluating gene-condition pairs for inclusion in newborn panels (panel 1-high actionability, panel 2-possible actionability).
Article Synopsis
- The ENIGMA research consortium focuses on determining the clinical significance of variants in hereditary breast and ovarian cancer genes, specifically BRCA1 and BRCA2, and evolved from an external expert panel to an internal Variant Curation Expert Panel (VCEP) to enhance alignment with FDA recognized classification processes.
- The VCEP reviewed existing classification criteria and utilized statistical methods to assess evidence strength, testing new specifications on variants and updating documentation for better user clarity.
- Analysis led to refined classifications for variants—resolving uncertainties and maintaining confidence in others—while revealing gaps in both ENIGMA's research and ACMG/AMP criteria, ultimately improving the classification process for BRCA1 and BRCA2 variants.
Sleep and Alcohol Use Among Veterans Living With Long COVID.
J Prim Care Community Health
April 2024
Article Synopsis
- - The study aimed to understand the sleep experiences and alcohol use among Veterans suffering from long COVID, as well as to identify the barriers and facilitators for healthcare providers in offering effective treatments.
- - Researchers analyzed VA health records for 57 Veterans and conducted interviews with 5 Veterans and 7 clinicians, revealing that many Veterans had worsening sleep issues due to long COVID, while alcohol use was less frequently discussed or diagnosed.
- - Findings highlight the need for tailored sleep interventions and suggest mixed feelings among providers regarding alcohol-related care, emphasizing the importance of personalizing treatment strategies for Veterans with long COVID.
Conduit arterial disease in chronic kidney disease (CKD) is an important cause of cardiac complications. Cardiac function in CKD has not been studied in the absence of arterial disease. In an Alport syndrome model bred not to have conduit arterial disease, mice at 225 days of life (dol) had CKD equivalent to humans with CKD stage 4-5.
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