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Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report.
BMC Med Genomics
October 2024
Department of Internal Medicine, Chonnam National University Medical School, 160, Baekseo‑ro, Dong‑gu, Gwangju, 61469, Republic of Korea.
Article Synopsis
- - Fabry disease is an inherited condition linked to issues with the enzyme α-galactosidase A, primarily affecting males, but this case presents female monozygotic twins with this genetic disorder exhibiting significant symptoms.
- - The 61-year-old patient and her twin sister exhibited serious health problems such as hypertrophic cardiomyopathy and chronic kidney disease, leading to suspicion of Fabry disease, which was confirmed through genetic testing revealing multiple CIH variant mutations.
- - This case highlights the unique occurrence of Fabry disease in female twins, illustrating the complexity of its symptoms, including heart and kidney issues, and underlines the necessity for enzyme replacement therapy, despite a progression of kidney function decline over two years.
Liesegang Rings in a Patient With Pulmonary Tuberculosis: The First Report.
Int J Surg Pathol
December 2024
Department of Pathology, ESIC Medical College & Hospital Faridabad, HR, India.
Liesegang rings are eosinophilic, concentric, lamellated structures that can assume a variety of shapes and sizes ranging from a few microns to hundreds of microns. To date, Liesegang rings have been reported in around 30 examples in the English literature, in the kidney, breast, female genital tract, and skin, and only a single report in the lung associated with allergic bronchopulmonary aspergillosis. Liesegang rings are usually incidental discoveries and have been associated with benign cystic lesions, inflammatory diseases, fibrosis, and tissue necrosis.
View Article and Find Full Text PDFFabry Disease Presenting as End-Stage Kidney Disease.
Glomerular Dis
August 2023
Department of Pathology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Background: Fabry disease (FD) is an X-linked disorder due to a pathogenic variant of the gene that codes for the alpha-galactosidase enzyme. The reduced or absent activity of the enzyme results in lysosomal accumulation of globotriosylceramide and its derivative, globotriaosylsphingosine, in a variety of cells, leading to a variety of complications including cardiac, renal, and cerebrovascular disorders. Early diagnosis is critically important for the selection of therapeutic treatments, which are essential for improving outcomes.
View Article and Find Full Text PDFPatterns of basidiocarp growth in oak mazegill (, Polyporales) revealed by experimental and natural perturbations.
Mycologia
November 2023
Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centres, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.
In Polyporales, the pore field immediately behind the basidiocarp margin may configure the hymenophore. Basidiocarp growth is not restricted to the margin, however. Here, the importance of the pore field was assessed from two years' of observations on naturally occurring oak mazegill (, Polyporales) basidiocarps and tested by experimental perturbations in natural habitats.
View Article and Find Full Text PDFGoldilocks mushrooms: How ballistospory has shaped basidiomycete evolution.
Fungal Biol
April 2023
Western Program and Department of Biology, Miami University, Oxford, OH, 45056, USA. Electronic address:
Ballistospory has been a governing factor in mushroom diversification. Modifications to fruit body morphology are subject to a series of fundamental constraints imposed by this uniquely fungal mechanism. Gill spacing in lamellate mushrooms, tube width in poroid species, and other configurations of the hymenium must comply with the distance that spores shoot themselves from their basidia.
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