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Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFJ Imaging Inform Med
January 2025
Department of Radiology, UC Davis School of Medicine, University of California, Davis, 4860 Y Street, Suite 3100, Sacramento, CA, 95817-2307, USA.
Purpose: To explore the information in routine digital subtraction angiography (DSA) and evaluate deep learning algorithms for automated identification of anatomic location in DSA sequences.
Methods: DSA of the abdominal aorta, celiac, superior mesenteric, inferior mesenteric, and bilateral external iliac arteries was labeled with the anatomic location from retrospectively collected endovascular procedures performed between 2010 and 2020 at a tertiary care medical center. "Key" images within each sequence demonstrating the parent vessel and the first bifurcation were additionally labeled.
NPJ Precis Oncol
January 2025
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Tumors of unknown origin (TUO) generally result in poor patient survival and are clinically difficult to address. Identification of the site of origin in TUO patients is paramount to their improved treatment and survival but is difficult to obtain with current methods. Here, we develop a random forest machine learning TUO methylation classifier using a large number of primary and metastatic tumor samples.
View Article and Find Full Text PDFSci Rep
January 2025
Hubei Key Laboratory of Biologic Resources Protection and Utilization, Hubei Minzu University, Enshi, 445000, Hubei Province, China.
As a key food production base, land use changes in the Jianghan Plain (JHP) significantly affect the surface landscape structure and ecological risks, posing challenges to food security. Assessing the ecological risk of the JHP, identifying its drivers, and predicting the risk trends under different scenarios can provide strategic support for ecological risk management and safeguarding food security in the JHP. In this study, the landscape ecological risk (LER) index was constructed by integrating landscape indices from 2000 to 2020, firstly analyzing its spatiotemporal characteristics, subsequently identifying the key influencing factors by using the GeoDetector model, and finally, simulating the risk changes under the four scenarios by using the Markov-PLUS model.
View Article and Find Full Text PDFNPJ Vaccines
January 2025
Providence Therapeutics Holdings, Inc., Calgary, Canada.
Continuously emerging SARS-CoV-2 Omicron subvariants pose a threat thwarting the effectiveness of approved COVID-19 vaccines. Especially, the protection breadth and degree of these vaccines against antigenically distant Omicron subvariants is unclear. Here, we report the immunogenicity and efficacy of a bivalent mRNA vaccine, PTX-COVID19-M1.
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