Publications by authors named "K Krysiak"

Pathogenic variants in the receptor tyrosine kinase TIE2, encoded by TEK, are known to cause vascular malformations (VMs). In this study, we retrospectively reviewed the deidentified data generated through clinical NGS testing in our laboratory and found 88 VM cases with a total of 107 clinically significant TEK variants. Among those, 23 unique variants at the amino acid level were identified, including five novel (p.

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Article Synopsis
  • Disorders of somatic mosaicism (DoSMs) are rare genetic conditions that occur due to changes in cells after fertilization, and current guidelines for genetic variant interpretation are not well-suited for these disorders.* -
  • The Brain Malformations Variant Curation Expert Panel (BMVCEP) has adapted existing guidelines for brain-related DoSMs, but their applicability to other DoSM types is limited.* -
  • Researchers at Washington University have made modifications to the BMVCEP framework to enhance variant classification for broader DoSMs, which could lead to more accurate diagnoses and better clinical care.*
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Background: Sick neonates with haemodynamic instability often require complex medication regimens, which may result in the connection of a catecholamine infusion distally. This increases the dead volume of the infusion system, extending the time to medication delivery. This study evaluated the effects of body weight, and infusion connection point on the delivery rate of two medications infused through a multi-infusion system at infusion rates suitable for extremely and very low birth weight (ELBW and VLBW) neonates.

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Article Synopsis
  • Personalized cancer vaccines targeting neoantigens show promise for treating follicular lymphoma (FL) by using advanced sequencing technologies to identify unique tumor mutations.
  • In a study involving 58 tumor samples from 57 FL patients, researchers predicted and filtered high-quality neoantigens, finding an average of 52 mutations per patient with multiple high-quality neoantigens identified.
  • A pilot clinical trial using these personalized neoantigen vaccines combined with PD-1 blockade has been initiated, showing early signs of feasibility, safety, and potential therapeutic benefits for patients with relapsed or refractory FL.
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Introduction: Parenteral drug administration in the neonatal intensive care involves complex pharmacotherapy adjusted for the patient's weight, fluid allowance, and complex multi-infusion systems.

Objectives: We investigated the delivery rate of a model drug through a multi-infusion system consisting of six intravenous infusions.

Methods: Delivery rate of the model drug was determined after infusion initiation and termination.

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