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http://dx.doi.org/10.1176/appi.ajp.20220934 | DOI Listing |
Head Neck Pathol
September 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
Myoepithelial carcinoma (MECA) is a malignant neoplasm composed exclusively of myoepithelial cells and accounts for less than 1% of all salivary gland tumors. Its diagnosis is often challenging due to histologic overlaps with benign lesions and its variable morphologic presentation. Although molecular profiling has emerged as a valuable tool in salivary gland tumor classification, the genetic landscape of MECA remains incompletely defined.
View Article and Find Full Text PDFJ Child Neurol
September 2025
Department of Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
This case report describes the use of doxazosin (Cardura) as a treatment for a patient with an autosomal dominant , single-nucleotide R398Q pathogenic variant, which has not previously been described in the literature. The patient has gain-of-function pathogenic genetic variant. Because of the patient's continued seizure burden with the use of traditional antiseizure medications and failed invasive antiseizure interventions, an oocyte cell line with the specific genetic variant was created to test efficacy of various medications.
View Article and Find Full Text PDFMicrobiol Spectr
September 2025
Instituto de Microbiologia Paulo de Góes, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil.
is a commensal bacterium that colonizes the gut of humans and animals and is a major opportunistic pathogen, known for causing multidrug-resistant healthcare-associated infections (HAIs). Its ability to thrive in diverse environments and disseminate antimicrobial resistance genes (ARGs) across ecological niches highlights the importance of understanding its ecological, evolutionary, and epidemiological dynamics. The CRISPR2 locus has been used as a valuable marker for assessing clonality and phylogenetic relationships in .
View Article and Find Full Text PDFBiomacromolecules
September 2025
School of Chemical and Biomolecular Engineering, Georgia Institute of Technology, 950 Atlantic Dr NW, Atlanta, Georgia 30332, United States.
The COVID-19 pandemic has demonstrated the need for rapid, flexible, and readily adaptable treatment options for future pandemic preparedness. Due to the speed at which viruses like SARS-CoV-2 mutate, the customary approach of using highly specific monoclonal antibodies as neutralization therapies is challenging, given their size, production complexity, and cost. Here, we leveraged rational protein design to create fusion proteins from small, antibody-mimetic proteins, Designed Ankyrin Repeat Proteins (DARPins) and a self-assembling hexameric coiled coil (CC-HEX).
View Article and Find Full Text PDFFront Genet
August 2025
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by impaired Adipose Triglyceride Lipase (ATGL) activity, leading to neutral lipid accumulation in various tissues. It typically manifests with progressive skeletal myopathy, with an onset of around 35 years. In addition, some patients develop cardiomyopathy and liver dysfunction.
View Article and Find Full Text PDF