Publications by authors named "I M Baumgartner"
Article Synopsis
- PIK3CA gene variants are linked to vascular malformations, and this study aimed to analyze their phenotypes, locations within the gene, and frequency in patients with these conditions.
- Data was collected from 558 patients with vascular malformations between 2008 and 2022, with genetic testing performed on biopsy samples starting in 2020, leading to 89 patients being included by June 2022.
- The research found 25 PIK3CA variants, predominantly in nonsyndromic (simple/combined) vascular malformations, with notable hotspot and non-hotspot variants and significant differences in variant frequency between syndromic and nonsyndromic cases, highlighting the genetic diversity underlying these conditions.
Arteriovenous malformations (AVM) are benign vascular anomalies prone to pain, bleeding, and progressive growth. AVM are mainly caused by mosaic pathogenic variants of the RAS-MAPK pathway. However, a causative variant is not identified in all patients.
View Article and Find Full Text PDFBackground: Venous malformation (VM) is the most frequent type of congenital vascular malformation. In terms of functional outcome local sclerotherapy remains the most important therapeutic tool. For planning and correct estimation and prevention of complications, an exact anatomical classification of the VM is crucial.
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- * A total of 87 cirrhotic patients were analyzed, with findings showing that MELD-Na scores and clinically overt sarcopenia were key predictors of mortality.
- * The research concluded that better nutritional support and understanding sarcopenia can help improve survival rates in these patients, particularly when assessed with the MELD-Na score.
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases. Yet, due to the prohibitive cost of high-depth WGS, most large-scale genetic association studies use genotyping arrays or high-depth whole exome sequencing (WES). Here we propose a cost-effective method which we call "Whole Exome Genome Sequencing" (WEGS), that combines low-depth WGS and high-depth WES with up to 8 samples pooled and sequenced simultaneously (multiplexed).
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