Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
View Article and Find Full Text PDFBackground: Proficiency in endotracheal intubation (ETI) is essential for medical professionals and its training should start at medical schools; however, large caseload may be required before achieving an acceptable success rate with direct laryngoscopy. Video laryngoscopy has proven to be an easier alternative for intubation with a faster learning curve, but its availability in medical training may be an issue due to its high market prices. We devised a low-cost 3-dimensionally printed video laryngoscope (3DVL) and performed a randomized trial to evaluate if the intubation success rate on the first attempt with this device is noninferior to a standard commercially available video laryngoscope (STVL).
View Article and Find Full Text PDFBackground: The profitability of the beef industry is directly influenced by the fertility rate and reproductive performance of both males and females, which can be improved through selective breeding. When performing genomic analyses, genetic markers located on the X chromosome have been commonly ignored despite the X chromosome being one of the largest chromosomes in the cattle genome. Therefore, the primary objectives of this study were to: (1) estimate variance components and genetic parameters for eighteen male and five female fertility and reproductive traits in Nellore cattle including X chromosome markers in the analyses; and (2) perform genome-wide association studies and functional genomic analyses to better understand the genetic background of male and female fertility and reproductive performance traits in Nellore cattle.
View Article and Find Full Text PDFMicroorganisms
December 2024
Viral infections are one of the most important causes of morbidity and mortality among patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT). Immunosuppression may lead to the reactivation of latent viruses or the acquisition of new infections, resulting in severe clinical outcomes. The early detection of viral reactivations is crucial for effective patient management and post-transplant care.
View Article and Find Full Text PDFPathogens
December 2024
During the COVID-19 pandemic, SARS-CoV-2 caused an alarming number of cases and deaths worldwide. Brazil was severely affected from late 2020 onward, especially after the emergence of variants of concern (VOCs) and variants of interest (VOIs). Although much is known about the dynamics and evolution of SARS-CoV-2 VOIs and VOCs in the country, information is still lacking on how the cocirculation of several SARS-CoV-2 lineages, along with the lack of vaccination and low adherence to social isolation measures, shaped the first year of the COVID-19 pandemic in Brazil.
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