Publications by authors named "L L Sommerville"
Article Synopsis
- - We analyze a case of a 20-year-old male with an unidentified neurodegenerative disease who had a severe deficiency in nicotinamide intermediates, crucial for NAD(H) biosynthesis.
- - Metabolic profiling tests showed that the patient's nicotinamide N-methyltransferase (NNMT) enzyme was not active during normal feeding or fasting but became functional after a specific nicotinamide intake.
- - This case represents a unique instance of adult-onset NNMT deficiency linked to neurodegenerative disease, highlighting the role of metabolomics in identifying rare metabolic disorders.
Article Synopsis
- * A study examined how different ABO blood haplotypes relate to insulin traits in African Americans and non-Hispanic whites, using genetic markers and gut bacteria data.
- * For non-Hispanic whites, the A1 haplotype was linked to better insulin sensitivity and lower lactate levels, suggesting lactate could mediate this effect, whereas no significant associations were found in African Americans.
Triple negative breast cancer (TNBC) is a rare, highly metastatic subtype of breast cancer that typically develops tumours of a high histological grade. As TNBC is negative for the oestrogen, progesterone and HER2 receptors it is also not eligible for targeted hormonal therapies. Therefore, those diagnosed with TNBC are faced with a very poor prognosis.
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- A fibrin-rich matrix forms after an injury to stop bleeding and support healing, but issues with fibrin network formation can lead to poor healing, especially in hemophilia.
- Platelet-like particles (PLPs) mimic platelet functions, enhancing clotting and aiding in wound healing by binding to fibrin and facilitating clot retraction.
- The study showed that PLPs improved the quality of clot networks and promoted cell migration in a hemophilia model, suggesting they could help improve healing in conditions with impaired fibrin formation.
Endothelial surface and circulating glycoprotein von Willebrand factor (vWF) regulates platelet adhesion and is associated with thrombotic diseases, including ischemic stroke, myocardial infarction, and peripheral vascular disease. Thrombosis, as manifested in these diseases, is the leading cause of disability and death in the western world. Current parenteral antithrombotic and thrombolytic agents used to treat these conditions are limited by a short therapeutic window, irreversibility, and major risk of hemorrhage.
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