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Short beak and dwarfism syndrome virus (SBDSV) is the causative agent of short beak and dwarfism syndrome (SBDS), which is characterized by beak atrophy and dwarfism. SBDS has caused substantial economic losses for waterfowl husbandry industries. To address the urgent need for rapid and accurate SBDSV diagnostics, the study developed a dual-mode detection platform integrating recombinase-aided amplification (RPA) with CRISPR/Cas12a-mediated fluorescence and lateral flow strip readouts. The optimized assay achieved a detection limit of 10 copies/μL. Notably, the platform demonstrated superior specificity to distinguish SBDSV from genetically related Muscovy duck-origin goose parvovirus (GPV) and classical GPV, a distinction unachievable by qPCR. Clinical validation using 36 field samples confirmed 100% concordance with qPCR and indirect immunofluorescence assays, with no cross-reactivity against other common duck pathogens. This innovative detection system provides a robust toolkit for field-deployable SBDSV surveillance and lays a solid foundation for the development of novel diagnostic methodologies applicable to various waterfowl-related pathogens.
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http://dx.doi.org/10.1016/j.psj.2025.105191 | DOI Listing |
Medicine (Baltimore)
September 2025
Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong Province, China.
Rationale: Weaver syndrome is a rare congenital overgrowth disorder characterized by a wide spectrum of clinical manifestations that often overlap with other overgrowth syndromes. It is primarily caused by pathogenic variants in the Enhancer of Zeste Homolog 2 (EZH2) gene on chromosome 7q36.1.
View Article and Find Full Text PDFNAR Cancer
September 2025
Department of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States.
The mycotoxin, aflatoxin B (AFB), is a potent mutagen that contaminates agricultural food supplies. After ingestion, AFB is oxidized into a reactive electrophile that alkylates DNA, forming bulky lesions such as the genotoxic formamidopyrimidine lesion, AFB-Fapy dG. This lesion is mainly repaired by nucleotide excision repair (NER) in bacteria; however, in humans the picture is less clear.
View Article and Find Full Text PDFNature
September 2025
Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, UK.
Nuclease-helicase DNA2 is a multifunctional genome caretaker that is essential for cell proliferation in a range of organisms, from yeast to human. Bi-allelic DNA2 mutations that reduce DNA2 concentrations cause a spectrum of primordial dwarfism disorders, including Seckel and Rothmund-Thomson-related syndromes. By contrast, cancer cells frequently express high concentrations of DNA2 (refs.
View Article and Find Full Text PDFGenes (Basel)
July 2025
Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.
Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family. gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. gene variants have been described in patients with KBG and Cornelia de Lange (CdL) syndromes.
View Article and Find Full Text PDFAm J Med Genet A
August 2025
Department of Pediatrics, University of New Mexico, Albuquerque, NM, USA.
We report two female siblings, a 13-month-old and a newborn, with multiple anomalies including hypoplastic kidneys, severe growth restriction, facial dysmorphism, and alopecia, both found to be homozygous for the c.587 T>C variant in ZPR1. Their clinical features are strikingly similar to those previously reported in a patient who was homozygous for the same variant.
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