Background: Radioactive iodine (RAI) is a common treatment for various thyroid diseases. Previous studies have suggested susceptibility of parathyroid glands to the mutagenic effect of RAI and the development of primary hyperparathyroidism (PHPT). We tested the possible link between prior RAI treatment, disease presentation, and treatment outcomes.
View Article and Find Full Text PDFLower risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by the accumulation of somatic mutations in various genes including epigenetic regulators that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic, and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. We performed a comprehensive study of somatic mutations and DNA methylation in a large and clinically well-annotated cohort of treatment-naive patients with LR-MDS at diagnosis from the EUMDS registry (ClinicalTrials.
View Article and Find Full Text PDFIntroduction/aims: Finger Extension Weakness and DOwnbeat Nystagmus Motor Neuron Disease (FEWDON-MND) is characterized by motor weakness predominantly affecting finger extension, accompanied by downbeat nystagmus. To date, only 11 patients have been reported. The present study adds a further three and aims to provide a more detailed description of the electrodiagnostic features of these patients.
View Article and Find Full Text PDFFungal Syst Evol
December 2024
The study of the Brazilian cave mycobiota has revealed a rich but highly diverse assemblage of fungi, with , , and being the most frequently reported genera. The present study investigated the airborne fungi and fungi obtained from the bodies of bats, guano, and the soil/sediment from the caves Urubu (in the Atlantic Forest) and Furna Feia (in the Caatinga dryland forest) in the Northeast region of Brazil. Fungal strains were identified based on morphological features and multilocus phylogenetic analyses of ITS, beta-tubulin (), calmodulin (), and RNA polymerase II second largest subunit () sequences.
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