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Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class?
Biol Open
March 2025
Neuroscience and Behavior Graduate Program, University of Massachusetts Amherst, Amherst, MA, 01003, USA.
The five-subunit endosomal Rab5 and RNA/ribose intermediary (FERRY) complex is a newly described protein complex consisting of TBCK, PPP1R21, FERRY3 (previously C12orf4), CRYZL1, and GATD1. The FERRY complex is proposed to function as a Rab5 effector to shuttle mRNA to the cell periphery for local translation, a process especially important in cells with far reaching processes. Interestingly, three members of the FERRY complex are associated with ultra-rare neurogenetic disorders.
View Article and Find Full Text PDFGaps and Similarities in Research Use LOINC Codes Utilized in Korean University Hospitals: Towards Semantic Interoperability for Patient Care.
J Korean Med Sci
January 2025
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings.
Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals.
Photosynthetic response of Solidago gigantea Aition and Calamagrostis epigejos L. (Roth) to complex environmental stress on heavy metal contaminated sites.
Sci Rep
December 2024
Faculty of Natural Sciences, Institute of Biology, Biotechnology and Environmental Protection, University of Silesia in Katowice, Jagiellońska 28, 40-032, Katowice, Poland.
Studies of in situ plant response and adaptation to complex environmental stresses, are crucial for understanding the mechanisms of formation and functioning of ecosystems of anthropogenically transformed habitats. We study short- and long-term responses of photosynthetic apparatus (PSA) and anti-oxidant capacity to complex abiotic stresses of common plants Calamagrostis epigejos and Solidago gigantea in semi-natural (C) and heavy metal contaminated habitats (LZ). We found significant differences in leaf pigment content between both plant species growing on LZ plots and their respective C populations.
View Article and Find Full Text PDFBiomechanical conditions of subtalar joint arthrodesis with calcaneal locking nail: A probabilistic numerical study.
PLoS One
November 2024
Faculty of Mechanical Engineering and Marine Technology, Chair of Lightweight Design, University of Rostock, Rostock, Germany.
Introduction: Subtalar joint arthrodesis is primarily indicated for advanced osteoarthritis, hindfoot deformity, and/or instability. During the first 6-10 weeks after surgery, there is an intermediary structurally weaker state before complete bony fusion of the calcaneus and talus occurs. Loading of the foot can lead to mechanical stresses and relative movements in the former joint gap, which can impede the fusion process.
View Article and Find Full Text PDFComparison of deep learning approaches to estimate injury severity from the International Classification of Diseases codes.
Traffic Inj Prev
November 2024
Department of Emergency Medicine, University of Virginia, Charlottesville, Virginia.
Article Synopsis
- The study aimed to compare the accuracy of feed-forward neural networks (FFNN) and neural machine translation (NMT) models in estimating injury severity directly and indirectly using AIS codes.
- Results indicated that indirect estimation via NMT was the most accurate method for predicting high injury severity (ISS ≥ 16), outperforming direct estimation approaches.
- While training times were similar across all models, FFNN models demonstrated significantly faster testing times compared to NMT models.
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