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Novel Approach to Vascular Thymic Tissue Transplantation in Humans: A Case Report.
Transplant Proc
January 2025
Departamento de Imágenes Diagnósticas, Fundación Valle del Lili, Cali, Colombia.
Background: Vascular thymus transplantation has been explored in animal models but remains untested in humans. Current approaches to congenital athymia involve avascular transplantation of allogeneic thymic tissue, which may delay immune recovery. Building on animal studies, we propose revascularization of thymic tissue in a human model.
View Article and Find Full Text PDFCompeting risks regression for clustered data with covariate-dependent censoring.
Commun Stat Theory Methods
March 2024
Division of Biostatistics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, 53226, Wisconsin,USA.
Competing risks data in clinical trial or observational studies often suffer from cluster effects such as center effects and matched pairs design. The proportional subdistribution hazards (PSH) model is one of the most widely used methods for competing risks data analyses. However, the current literature on the PSH model for clustered competing risks data is limited to covariate-independent censoring and the unstratified model.
View Article and Find Full Text PDFThe Amphibian Major Histocompatibility Complex-A Review and Future Outlook.
J Mol Evol
January 2025
Groningen Institute for Evolutionary Life Sciences, University of Groningen, Groningen, Netherlands.
The major histocompatibility complex (MHC) is a cluster of functionally related genes encoding proteins which, among other functions, mediate immune system activation. While the MHC of many vertebrates has been extensively studied, less is known about the amphibian MHC. This represents an important knowledge gap because amphibians mark the evolutionary transition from an aquatic to a terrestrial lifestyle and often maintain a biphasic lifestyle.
View Article and Find Full Text PDFBroadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.
Gene
March 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
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