Publications by authors named "J E Below"
Hepatic steatosis is a central phenotype in multi-system metabolic dysfunction and is increasing in parallel with the obesity pandemic. We use a translational approach integrating clinical phenotyping and outcomes, circulating proteomics, and tissue transcriptomics to identify dynamic, functional biomarkers of hepatic steatosis. Using multi-modality imaging and broad proteomic profiling, we identify proteins implicated in the progression of hepatic steatosis that are largely encoded by genes enriched at the transcriptional level in the human liver.
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- Drug-induced stuttering is an acquired speech disorder caused by certain medications, resembling developmental stuttering, and has been primarily studied through case reports and adverse drug reactions.
- A recent study analyzed electronic health records from a major medical center to identify and classify drugs linked to this type of stuttering, reviewing 40 suspected cases.
- The findings revealed that 18 different drugs were associated with stuttering in 22 individuals, especially in the classes of antiseizure agents, CNS stimulants, and antidepressants, with topiramate being the most commonly implicated drug; the study emphasizes the need for better documentation of medication-related speech issues in EHRs.
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- * Researchers used metabolic chamber experiments and metabolite profiling to analyze substrate oxidation rates and energy expenditure across various diets, including fasting and high-fat diets.
- * Findings reveal that diets promoting fat oxidation are linked to specific changes in metabolic pathways and metabolites, demonstrating the relationship between substrate availability and human physiology.
Article Synopsis
- * We found 17 genetic loci associated with sleep duration impacting lipid levels, with 10 of them being newly identified and linked to sleep-related disturbances in lipid metabolism.
- * The research points to potential drug targets that could lead to new treatments for lipid-related issues in individuals with sleep problems, highlighting the connection between sleep patterns and cardiovascular health.
Article Synopsis
- Rare genetic diseases like Type 5 Long QT Syndrome (LQT5) are often underdiagnosed due to limited studies in referral populations, leading to skewed insights into these conditions.
- A new method was developed to identify undiagnosed LQT5 carriers in a broader population, leading to the discovery of 22 additional individuals sharing a specific genetic variant linked to LQT5.
- The analysis revealed that both referred and non-referred carriers have a prolonged QT interval, and a specific polygenic score can predict QT prolongation among those with the variant, enhancing the understanding of LQT5's impact.