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Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.
JCI Insight
December 2024
Institute of BioInnovation, Biomedical Sciences Research Centre "Alexander Fleming," Vari-Athens, Greece.
Systemic capillary leak syndrome (SCLS) is a rare life-threatening disorder due to profound vascular leak. The trigger and the cause of the disease are currently unknown and there is no specific treatment. Here, we identified a rare heterozygous splice-site variant in the TLN1 gene in a familial SCLS case, suggestive of autosomal dominant inheritance with incomplete penetrance.
View Article and Find Full Text PDF"Luck Be a Lady": Retrospective Study of Disease-Associated Prion (PrPSc) Distribution and Lesions in Captive, Environmentally Exposed Female Rocky Mountain Elk (Cervus canadensis nelsoni) with 132LL Genotype.
J Wildl Dis
September 2024
Veterinary Services, Wildlife Health Laboratory, Wyoming Game and Fish Department, 1174 Snowy Range Rd., Laramie, Wyoming 82070, USA.
Chronic wasting disease (CWD) is a fatal neurodegenerative disease of cervids caused by an infectious misfolded protein (prion). Several members of the Cervidae, including Rocky Mountain elk (Cervus canadensis nelsoni), are susceptible to CWD. There is no evidence of complete genetic resistance to CWD; the M132L polymorphism in the elk prion protein gene influences the incubation period: longest in 132LL, intermediate in 132ML, and shortest in 132MM elk.
View Article and Find Full Text PDFInfection-nutrition feedbacks: fat supports pathogen clearance but pathogens reduce fat in a wild mammal.
Proc Biol Sci
August 2024
Haub School of the Environment and Natural Resources, 804 E Fremont Street, Laramie, WY 82071, USA.
Though far less obvious than direct effects (clinical disease or mortality), the indirect influences of pathogens are difficult to estimate but may hold fitness consequences. Here, we disentangle the directional relationships between infection and energetic reserves, evaluating the hypotheses that energetic reserves influence infection status of the host and that infection elicits costs to energetic reserves. Using repeated measures of fat reserves and infection status in individual bighorn sheep () in the Greater Yellowstone Ecosystem, we documented that fat influenced ability to clear pathogens () and infection with respiratory pathogens was costly to fat reserves.
View Article and Find Full Text PDFPathology of Chronic Mycoplasma ovipneumoniae Carriers in a Declining Bighorn Sheep (Ovis canadensis) Population.
J Wildl Dis
April 2024
Wyoming Game and Fish Department, Veterinary Services, Wildlife Health Laboratory, 1174 Snowy Range Road, Laramie, Wyoming 82070, USA.
Bighorn sheep (Ovis canadensis) across North America commonly experience population-limiting epizootics of respiratory disease. Although many cases of bighorn sheep pneumonia are polymicrobial, Mycoplasma ovipneumoniae is most frequently associated with all-age mortality events followed by years of low recruitment. Chronic carriage of M.
View Article and Find Full Text PDFArticle Synopsis
- - This document serves as an evidence-based guideline for naming and classifying congenital bicuspid aortic valve and its associated conditions, aimed at a wide range of medical professionals.
- - It is designed for use by pediatricians, cardiologists, surgeons, and researchers, ensuring clarity across various healthcare fields.
- - The consensus is subject to updates as new research and key findings emerge, highlighting its dynamic nature in adapting to evolving medical knowledge.
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