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Sökning: WFRF:(Stengel Felix C.)

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1.
  • Pattaro, Cristian, et al. (författare)
  • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
  • 2016
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
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2.
  • Raffa, Giovanni, et al. (författare)
  • The use of advanced technology for preoperative planning in cranial surgery – A survey by the EANS Young Neurosurgeons Committee
  • 2023
  • Ingår i: Brain and Spine. - 2772-5294. ; 3
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Technological advancements provided several preoperative tools allowing for precise preoperative planning in cranial neurosurgery, aiming to increase the efficacy and safety of surgery. However, little data are available regarding if and how young neurosurgeons are trained in using such technologies, how often they use them in clinical practice, and how valuable they consider these technologies. Research question: How frequently these technologies are used during training and clinical practice as well as to how their perceived value can be qualitatively assessed. Materials and methods: The Young Neurosurgeons’ Committee (YNC) of the European Association of Neurosurgical Societies (EANS) distributed a 14-items survey among young neurosurgeons between June 1st and August 31st, 2022. Results: A total of 441 responses were collected. Most responders (42.34%) received “formal” training during their residency. Planning techniques were used mainly in neuro-oncology (90.86%), and 3D visualization of patients' DICOM dataset using open-source software was the most frequently used (>20 times/month, 20.34% of responders). Software for 3D visualization of patients’ DICOM dataset was the most valuable technology, especially for planning surgical approach (42.03%). Conversely, simulation based on augmented/mixed/virtual reality was considered the less valuable tool, being rated below sufficiency by 39.7% of responders. Discussion and conclusion: Training for using preoperative planning technologies in cranial neurosurgery is provided by neurosurgical residency programs. Software for 3D visualization of DICOM datasets is the most valuable and used tool, especially in neuro-oncology. Interestingly, simulation tools based on augmented/virtual/mixed reality are considered less valuable and, therefore, less used than other technologies.
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