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VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFUltrastructural Study and Immunohistochemical Characteristics of Mesencephalic Tegmentum in Juvenile Chum Salmon () Brain After Acute Traumatic Injury.
Int J Mol Sci
January 2025
A.V. Zhirmunsky National Scientific Center of Marine Biology, Far Eastern Branch, Russian Academy of Sciences, 690041 Vladivostok, Russia.
The ultrastructural organization of the nuclei of the tegmental region in juvenile chum salmon () was examined using transmission electron microscopy (TEM). The dorsal tegmental nuclei (DTN), the nucleus of (NFLM), and the nucleus of the oculomotor nerve (NIII) were studied. The ultrastructural examination provided detailed ultrastructural characteristics of neurons forming the tegmental nuclei and showed neuro-glial relationships in them.
View Article and Find Full Text PDFSecondary Syphilis Presenting With an Interstitial Granuloma Annulare-Like Histopathologic Pattern: A Report of 2 Cases.
Am J Dermatopathol
February 2025
Bioptic Laboratory, Ltd, Pilsen, Czech Republic.
Syphilis, known as "the great mimicker," is caused by the spirochete Treponema pallidum and is characterized by a diverse array of clinical and histopathologic presentations. In secondary cutaneous syphilis, the most consistent morphological features include a superficial and deep perivascular infiltrate containing plasma cells, varying degrees of endothelial swelling, irregular acanthosis, elongation of rete ridges, a vacuolated pattern, and the presence of plasma cells. Although serologic tests are essential for definitive diagnosis, spirochetes can sometimes be directly identified in silver-stained tissue slides or through immunohistochemistry.
View Article and Find Full Text PDFBackground: Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare and progressive neurodegenerative disorder involving the white matter, is not adequately recapitulated by current disease models. Somatic cell reprogramming, along with advancements in genome engineering, may allow the establishment of human models of MLC for disease modeling and drug screening. In this study, we utilized cellular reprogramming and gene-editing techniques to develop induced pluripotent stem cell (iPSC) models of MLC to recapitulate the cellular context of the classical MLC-impacted nervous system.
View Article and Find Full Text PDFThymol inhibits ergosterol biosynthesis in Nakaseomyces glabratus, but differently from azole antifungals.
J Mycol Med
December 2024
Invasive Fungi Research Center, Communicable Diseases Institute, Mazandaran University of Medical Sciences, Sari, Iran; Department of Medical Mycology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran. Electronic address:
Introduction: Nakaseomyces glabratus is considered a high priority of attention according to WHO, and also is an important yeast species due to its high rate of intrinsic/acquired resistance against fluconazole. This study aimed at the possible mechanisms of action of thymol, as the promising new antifungal agent, in N. glabratus.
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