Publications by authors named "J GerSS"

Introduction: Phenotypic heterogeneity and unpredictability of individual disease progression present enormous challenges in ultrarare renal ciliopathies. The tubular-derived glycoprotein, Dickkopf-related protein 3 (DKK3) is a promising biomarker for kidney fibrosis and prediction of kidney function decline. Here, we measured urinary DKK3 (uDKK3) levels in 195 pediatric patients with renal ciliopathy to assess its potential as a discriminative and prediction marker.

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Background And Aims: Current knowledge about upper extremity artery disease (UEAD) is scarce. This study aimed to evaluate the prevalence, treatment patterns, and short- and long-term outcomes of patients suffering from UEAD.

Methods: Retrospective health claims data of patients who were hospitalized with a primary diagnosis of UEAD between 2010 and 2017 were analysed.

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Article Synopsis
  • Malignant rhabdoid tumors mainly affect young children and are linked to genetic changes in the SMARCB1 gene; about 30% of patients have one altered SMARCB1 allele, leading to poorer outcomes.
  • A study of 29 patients with sporadic rhabdoid tumors investigated the frequency and impact of constitutional mosaicism (having mutated genes in some but not all cells) using advanced DNA sequencing techniques.
  • The research found constitutional mosaicism in 21% of patients, suggesting it is common in these tumors; however, there were no significant differences in clinical outcomes between patients with and without mosaicism, indicating more research is necessary.
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Background: Vitamin-K antagonists (VKAs) have widely been replaced by non-VKA oral anticoagulants (NOACs). This includes Austria, Germany and Switzerland, where as VKA, instead of warfarin, the much longer-acting phenprocoumon is used, which was not compared to NOACs in clinical trials.

Methods: Using administrative data from a large German health insurance, we included all anticoagulation-naïve patients with a first prescription of a NOAC or VKA between 2012 and 2020.

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