We report a case of congenital isolated malabsorption of folic acid, the first in a boy. Only seven previous cases have been reported, and we discuss two aspects--namely, the tendency to infection, with evidence of impairment of both cellular and humoral immunity, and the absence of neurological disturbances.
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http://dx.doi.org/10.1136/adc.62.1.78 | DOI Listing |
Atypical porcine pestivirus (APPV) was first identified in 2015 in North America by high-throughput sequencing. APPV is associated with congenital tremor A-II and is widely distributed worldwide. In this study, a total of 2630 samples of domestic pigs obtained from 14 regions of Russia from 2020 to 2024 were screened for APPV presence by qRT-PCR.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFBiomolecules
December 2024
Department of Immunology (LIH), Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 2415-Butantã, São Paulo 05508-000, SP, Brazil.
In this study, we investigated the role of extracellular vesicles (EVs) in the pathogenesis of Congenital Zika Syndrome (CZS). Previous studies have highlighted the role of EVs in intercellular communication and the modulation of biological processes during viral infections, motivating our in-depth analysis. Our objective was to identify specific molecular signatures in the EVs of patients with CZS, focusing on their potential as biomarkers and on cellular pathways affected by the infection.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFEquine Vet J
January 2025
Université de Lyon, VetAgro Sup, Marcy l'Etoile, France.
Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.
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