Publications by authors named "A Benito"
Epigenetic alterations are hallmarks of cancer, with histone modifiers playing critical roles in gene transcription, DNA homeostasis, and other nuclear functions. Lysine-specific demethylase 1 (LSD1), a key regulator of H3K4 methylation, has emerged as a promising pharmacological target in cancer treatment, including leukemia. Acute lymphoblastic leukemia (ALL), the most common pediatric cancer, remains a significant therapeutic challenge due to limited understanding of how epigenetic therapy impacts leukemia dissemination.
View Article and Find Full Text PDFHypertrophic osteoarthropathy (HOA: MIM 167100)) is classified into primary and secondary types. Primary HOA, also known as pachydermoperiostosis (PDP), is a rare genetic condition with distinct clinical features including digital clubbing, skin thickening, and periostosis. Secondary HOA often occurs as a paraneoplastic syndrome or is associated with systemic diseases.
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- Onchocerciasis and lymphatic filariasis (LF) are diseases prevalent in Equatorial Guinea, with efforts historically focused on Bioko Island, which has successfully interrupted onchocerciasis transmission, prompting a need to assess mainland regions where transmission status is unclear.
- The study, conducted from September to December 2019, employed various diagnostic methods on a sample of 3,951 individuals to estimate the prevalence of these diseases on the mainland, marking the first cross-sectional analysis for this area.
- Results showed a very low onchocerciasis seroprevalence of 0.3%, and while no O. volvulus microfilariae were found in biopsies, DNA evidence confirmed its presence in one
Impact of Genetic and Environmental Factors on Peripheral Refraction.
Transl Vis Sci Technol
October 2024
Article Synopsis
- The study investigates how genetics and the environment affect refractive errors in both monozygotic (MZ) and dizygotic (DZ) twins by examining multiple eye measurements.
- The results show that MZ twins exhibit higher genetic influence in refractive errors compared to DZ twins, particularly for midperipheral defocus, indicating a significant role of genetics in peripheral vision.
- The findings suggest that while environmental factors influence central vision, genetic components play a bigger role in peripheral vision, highlighting the need for tailored approaches in managing conditions like myopia.