Publications by authors named "R F Stahl"

Venoarterial extracorporeal membrane oxygenation weaning strategies are not standardized. When dealing with patients with complex physiologies and borderline haemodynamics, it is prudent to have a fail-safe method of approaching decannulation from extracorporeal membrane oxygenation. Standardizing the extracorporeal membrane oxygenation weaning strategy with a pump-controlled retrograde trial off protocol seems a feasible alternative to traditional venoarterial extracorporeal membrane oxygenation weaning approaches.

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Purpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- RAS/mitogen-activated protein kinase genes (RASopathies).

Patients And Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio (n=30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert.

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Objective: In suspected acute ischemic stroke, it is now reasonable to expand the conventional "stroke protocol" (non-contrast computed tomography (NCCT), arterial CT angiography (CTA), and optionally CT perfusion (CTP)) to early and late venous head scans yielding a multiphase CTA (MP-CTA) to increase diagnostic confidence. Diagnostic reference levels (DRLs) have been defined for neither MP-CTA nor CTP. We therefore present dosimetry data, while also considering image quality, for a large, unselected patient cohort.

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Introduction: Hidradenitis suppurativa (HS) is a prevalent and persistent inflammatory skin disorder, lacking a known cure or effective biomarkers for early diagnosis at present. The genetic determinants of HS have not been fully documented, but it is believed to result from a combination of genetic and environmental factors.

Methods: To identify relevant HS gene variants in sporadic HS patients, this study utilized longitudinal electronic health records (EHRs) and whole-exome sequencing.

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Article Synopsis
  • Immune response genes vary widely among humans and mice, leading to different defense responses based on genetic differences, which can complicate research outcomes.
  • This study used RNA sequencing and variant analysis to uncover significant genetic variations in a commonly used mouse model of NLRP3 deficiency, highlighting the impact of the Nlrp1 locus on macrophage activation independently of the NLRP3 status.
  • The research provides a method to identify important genetic variations and evaluate contamination in transgenic mice studies, enhancing the reliability of findings in host defense research.
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