Publications by authors named "R Veith"
Article Synopsis
- PMS2 is a critical gene for DNA-mismatch repair linked to Lynch syndrome and certain cancers, making it a key target in genetic testing.
- The presence of the similar pseudogene PMS2CL complicates the sequencing process, often requiring costly long-read strategies instead of traditional methods.
- The article introduces a new bioinformatics workflow that can streamline PMS2 testing, eliminating the need for these more complex and expensive approaches for most patients.
Article Synopsis
- Biallelic variants in the ZBTB11 gene are linked to a rare intellectual developmental disorder known as MRT69, which shows a variety of clinical symptoms.
- The study focused on analyzing clinical and genetic traits of 29 individuals (ages 2-50) with these variants, finding diverse neurodevelopmental issues and complex movement disorders among the patients.
- Results revealed that many patients had abnormal movements (like ataxia and dystonia) and cataracts, with one patient showing improvement from deep brain stimulation, contributing 13 new genetic variants to the understanding of ZBTB11-related disorders.
Dialysis access thrombosis is a common complication in the process of care. With the introduction of endovascular AV-fistulas [AVF]s the situation gained complexity with new potential thrombosis localizations. Several thrombectomy methods are available for recanalization of thrombosed AVFs ranging from invasive surgical methods to minimal invasive endovascular approaches.
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- The study aimed to implement rapid whole genome sequencing (rWGS) in multiple hospitals to evaluate its clinical utility for infants suspected of having genetic diseases.
- Over 188 hospitalized infants were tested from November 2017 to April 2020, with 35% receiving a diagnostic result in an average of 6 days; providers significantly altered management plans for many based on test outcomes.
- Findings suggest that rWGS can be effectively integrated into clinical practice across diverse institutions, offering valuable insights into genetic conditions despite the presence of uncertain test results.
Background: The FIDELIO-DKD and FIGARO-DKD randomized clinical trials (RCTs) showed finerenone, a novel non-steroidal mineralocorticoid receptor antagonist (MRA), reduced the risk of renal and cardiovascular events in patients with type 2 diabetes mellitus (T2DM) and chronic kidney disease (CKD). Using RCT inclusion and exclusion criteria, we analyzed the RCT coverage for patients with T2DM and CKD in routine clinical practice in Germany.
Methods: German patients from the DPV/DIVE registries who were ≥ 18 years, had T2DM and CKD (an estimated glomerular filtration rate [eGFR] < 60 mL/min/1.