A patient is described who presented with severe congenital anemia, hydrops fetalis, immune disorder, and absent thumbs. No toxic, infectious, or metabolic cause was found to explain these symptoms. Immunologic and cytogenetic studies excluded several syndromes that combine radial ray anomalies with hematological involvement. After careful study of the literature, it is concluded that the disorder described here represents a new syndrome that can be added to a growing list of hematological-radial syndromes.
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http://dx.doi.org/10.1002/ajmg.1320420523 | DOI Listing |
Front Public Health
January 2025
School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada.
Introduction: HIV self-testing (HIVST) is an innovative strategy that has been shown to increase uptake of HIV testing compared to conventional facility-based testing. HIVST implementation with digital-based supports may help facilitate testing accessibility and linkage to care after a reactive self-test. Economic evidence around community-based implementation of HIVST is growing; however, economic evidence around digital-based HIVST approaches remains limited.
View Article and Find Full Text PDFBrain Behav Immun Health
February 2025
Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases-IRCAD, University of Eastern Piedmont, 28100, Novara, Italy.
Major Depressive Disorder (MDD) is a widespread psychiatric condition impacting social and occupational functioning, making it a leading cause of disability. The diagnosis of MDD remains clinical, based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 criteria, as biomarkers have not yet been validated for diagnostic purposes or as predictors of treatment response. Traditional treatment strategies often follow a one-size-fits-all approach obtaining suboptimal outcomes for many patients who fail to experience response or recovery.
View Article and Find Full Text PDFWorld J Gastroenterol
January 2025
State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Xinjiang Key Laboratory of Molecular Biology for Endemic Diseases, Department of Pathology, School of Basic Medical Sciences, Xinjiang Medical University, Urumqi 830000, Xinjiang Uyghur Autonomous Region, China.
Background: polysaccharides (BSP) have antioxidant, immune regulation, and anti-fibrotic activities. However, the therapeutic effect and mechanisms underlying the action of BSP in metabolic dysfunction-associated steatotic liver disease (MASLD) have not been fully understood.
Aim: To investigate the therapeutic effects and mechanisms of BSP on MASLD by centering on the hepatocyte nuclear factor kappa B p65 (RelA)/hepatocyte nuclear factor-1 alpha (HNF1α) signaling.
World J Gastroenterol
January 2025
Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou 450001, Henan Province, China.
Background: Liver injury manifesting as hepatic enzyme abnormalities, has been occasionally identified to be a feature of primary or secondary Addison's disease, an uncommon endocrine disease characterized by adrenal insufficiency. There have been no more than 30 reported cases of liver injury explicitly attributed to Addison's disease. Liver injury resulting from adrenal insufficiency due to glucocorticoid withdrawal is exceptionally rarer.
View Article and Find Full Text PDFRSC Adv
January 2025
Institute of Chemistry, Vietnam Academy of Science and Technology Hanoi Vietnam
In this paper, a series of novel quinazoline-4(3)-one-2-carbothioamide derivatives (8a-p) were designed and synthesized the Wilgerodt-Kindler reaction between 2-methylquinazoline-4-one 10 and amines using S/DMSO as the oxidizing system. Their characteristics were confirmed by IR, NMR, HRMS spectra, and their melting point. These novel derivatives (8a-p) were evaluated for their anti-inflammatory activity by inhibiting NO production in lipopolysaccharide (LPS)-activated RAW 264.
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