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Genetic insights and therapeutic avenues: unraveling the role of polyunsaturated fatty acids as mediators between hypothyroidism and Von Willebrand disease through Mendelian randomization.
Front Genet
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Previous observational studies have shown that Hypothyroidism is associated with Von Willebrand Disease (VWD), but the causal relationship has not been confirmed because of conflicting findings and confounding by mixing factors. There are also some studies suggesting that polyunsaturated fatty acids (PUFA) may be one of the potential mediators. In this study, we used a Mendelian randomization study to analyze the causal relationship between Hypothyroidism and VWD and to investigate whether polyunsaturated fatty acids mediate the effects of Hypothyroidism on VWD.
View Article and Find Full Text PDFRoutine Fundoscopy: Unravelling Undiagnosed Significant Coarctation of the Aorta.
Cureus
December 2024
Ophthalmology, Father Muller Medical College, Mangalore, IND.
A 10-year-old boy was brought to the outpatient department with complaints of diminished vision for two years. On examination, the best-corrected visual acuity (BCVA) in oculus dexter (OD) was 20/40 and in oculus sinister (OS) was 20/80. The patient was dilated for routine fundoscopy, which revealed grade IV hypertensive retinopathy changes in both eyes, with a macular fan in the left eye.
View Article and Find Full Text PDFBIOTIC: a Bayesian framework to integrate single-cell multi-omics for transcription factor activity inference and improve identity characterization of cells.
Brief Bioinform
November 2024
Department of Automation, Xiamen University, Xiang'an South Road, Xiang'an, 361102, Xiamen, Fujian, China.
Understanding cell destiny requires unraveling the intricate mechanism of gene regulation, where transcription factors (TFs) play a pivotal role. However, the actual contribution of TFs, that is TF activity, is not only determined by TF expression, but also accessibility of corresponding chromatin regions. Therefore, we introduce BIOTIC, an advanced Bayesian model with a well-established gene regulation structure that harnesses the power of single-cell multi-omics data to model the gene expression process under the control of regulatory elements, thereby defining the regulatory activity of TFs with variational inference.
View Article and Find Full Text PDFUnraveling the Origin of Unusual Cs Atom Disorder in Cesium Octahedral Molybdenum Halide Cluster Compounds, Cs[{MoX}X] (X = Cl and Br).
Inorg Chem
January 2025
NIMS-CNRS-Saint-Gobain International Collaboration Center, National Institute for Materials Science (NIMS), 1-1 Namiki, Tsukuba, Ibaraki 305-0044, Japan.
In this study, we investigate structural disorder and its implications in metal cluster (MC)-based compounds, specifically focusing on Cs[{MoX}X] (X = Cl and Br). Utilizing synchrotron radiation X-ray diffraction, Fourier transform infrared spectroscopy, and luminescence measurements, we examined the incorporation of water molecules into these compounds and their effects on the crystal structure and optical properties. Our findings reveal that the presence of water molecules induces the lattice disorder, particularly the displacement of Cs atoms.
View Article and Find Full Text PDFDiffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.
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