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KaRhab: an international online registry for cardiac rhabdomyomas.
Orphanet J Rare Dis
January 2025
Institute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany.
Background: Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shortage of large-scale reviews encompassing a substantial number of cases.
View Article and Find Full Text PDFKey performance indicators in emergency department simulation: a scoping review.
Scand J Trauma Resusc Emerg Med
January 2025
Health Services Management Research Center, Institute for Futures Studies in Health, Kerman University of Medical Sciences, Kerman, Iran.
Background: One way to measure emergency department (ED) performance is using key performance indicators (KPIs). Thus, identifying reliable KPIs can be critical in appraising ED performance. This study aims to introduce and classify the KPIs related to ED in simulations through the Balanced Scorecard (BSC) framework.
View Article and Find Full Text PDFA comprehensive allele specific expression resource for the equine transcriptome.
BMC Genomics
January 2025
Department of Population Health and Reproduction, Davis School of Veterinary Medicine, University of California, Room 4206 Vet Med3A One Shields Ave, Davis, CA, 95616, USA.
Background: Allele-specific expression (ASE) analysis provides a nuanced view of cis-regulatory mechanisms affecting gene expression.
Results: An equine ASE analysis was performed, using integrated Iso-seq and short-read RNA sequencing data from four healthy Thoroughbreds (2 mares and 2 stallions) across 9 tissues from the Functional Annotation of Animal Genomes (FAANG) project. Allele expression was quantified by haplotypes from long-read data, with 42,900 allele expression events compared.
Innovative strategy for full-scale polar components explicition and ultrasonic-assisted optimization of Astragalus membranaceus flower.
Ultrason Sonochem
January 2025
The Research Institute of Medicine and Pharmacy, Qiqihar Medical University, Qiqihar 161006 China; The Institute of Astragalus Industry Research, Qiqihar Medical University, Qiqihar 161006 China. Electronic address:
Traditional extraction under merely one specific solvent was confronted with incomplete phytochemical unscramble problem. In view of this, in order to obtain the overall chemical understanding, we attempted to use Astragalus membranaceus flower, an abundant exploitable resource, to screen a novel extraction mixing scheme via gradient solvents based on the ions' quantity detected in UHPLC-Q-TOF-MS/MS approach. Samples were firstly extracted by different concentration ethanol, and then, six mixing schemes were investigated and one scheme with maximum detected ions was screened out.
View Article and Find Full Text PDFA hierarchical pathway for assembly of the distal appendages that organize primary cilia.
Elife
January 2025
Department of Microbiology and Immunology, Stanford University, Stanford, United States.
Distal appendages are nine-fold symmetric blade-like structures attached to the distal end of the mother centriole. These structures are critical for formation of the primary cilium, by regulating at least four critical steps: ciliary vesicle recruitment, recruitment and initiation of intraflagellar transport (IFT), and removal of CP110. While specific proteins that localize to the distal appendages have been identified, how exactly each protein functions to achieve the multiple roles of the distal appendages is poorly understood.
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