Severe combined immunodeficiency (SCID) represents a group of rare, sometimes fatal, congenital disorders in which there is a combined absence of T-lymphocyte and B-lymphocyte function. Children with SCID die within two years of age, if untreated. The effective treatment for SCID is a hematopoietic stem cell transplantation (HSCT). It has been repeatedly described that in peripheral blood of infants with SCID maternal T cells can be found. Here we report a case of blood chimerism in a one-year-old boy with SCID.
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http://dx.doi.org/10.1111/j.1399-3046.2006.00568.x | DOI Listing |
Cell Death Differ
December 2024
Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA.
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
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December 2024
Artificial Intelligence in Medical Sciences Research Center, Smart University of Medical Sciences, Tehran, Iran.
Failure to predict stroke promptly may lead to delayed treatment, causing severe consequences like permanent neurological damage or death. Early detection using deep learning (DL) and machine learning (ML) models can enhance patient outcomes and mitigate the long-term effects of strokes. The aim of this study is to compare these models, exploring their efficacy in predicting stroke.
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December 2024
Faculty of Natural Science, Walter Sisulu University, Mthatha, South Africa.
Changing climates threaten crop growth and fodder yields in dryland farming. This study assessed two radish genotypes (LINE 2, ENDURANCE) under three water regimes (W1 = well-watered, W2 = moderate stress, W3 = severe stress) and two leaf harvesting options over two seasons (2021/22 and 2022/23). Key findings revealed that water regime significantly (P < 0.
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December 2024
Department of Clinical Medicine, North Sichuang Medical College, Nanchong, 63700, Sichuan Province, China.
Abdominal aortic aneurysm is a potentially fatal vascular inflammatory disease characterized by infiltration of various inflammatory cells.The GABA-A receptor is expressed in many inflammatory cells such as macrophages and T cells and has anti-inflammatory and antioxidant effects. Therefore, the GABA-A receptor may become a potential therapeutic target for abdominal aortic aneurysms.
View Article and Find Full Text PDFChronic heart failure (CHF) represents one of the most severe and advanced stages of cardiovascular disease. Despite the critical importance of cardiac rehabilitation (CR) in CHF management, while studies have explored the effectiveness of various CR delivery modes and offered valuable context-specific insights, their relative efficacy remains inconsistent across different patient groups, healthcare environments, and intervention approaches. A clearer understanding requires comprehensive comparisons and in-depth analyses to address these variations.
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