Publications by authors named "I Macdonald"

Article Synopsis
  • A review highlights various disease-causing variants of the gene PIKFYVE found in ocular tissues and their associated eye conditions, filling a gap in existing research.
  • PIKFYVE is important for regulating cellular functions like autophagy and phagocytosis, and variants in this gene are linked to conditions like corneal fleck dystrophy and congenital cataracts.
  • The study aims to establish possible connections between specific genetic variants and the eye disorders they cause, which could help improve future diagnosis and treatment of PIKFYVE-related ocular diseases.
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Malnutrition is present in most countries of the world. This ranges from general undernutrition due to insufficient food, or poor-quality diets low in some essential nutrients, to overnutrition and obesity with energy-rich but nutrient-poor diets. The fundamental aim of dietary recommendations is to prevent deficiency diseases, and the assumptions which underpin these recommendations need to be understood when considering what advice to give to the general public or individual patients.

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The spleen constantly clears altered red blood cells (RBCs) from the circulation, tuning the balance between RBC formation (erythropoiesis) and removal. The retention and elimination of RBCs occur predominantly in the open circulation of the spleen, where RBCs must cross submicron-wide inter-endothelial slits (IES). Several experimental and computational studies have illustrated the role of IES in filtrating the biomechanically and morphologically altered RBCs based on a rigid wall assumption.

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Background: Analgosedation is standard practice to ensure comfort and safety of critically ill children in paediatric intensive care units (PICUs). However, a significant number of children develop iatrogenic withdrawal syndrome or delirium with these drugs. The European Society of Paediatric and Neonatal Intensive Care published a position statement in 2016, but how successfully its recommendations have been implemented is unknown.

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Article Synopsis
  • This study explores how changes in cilia, which are tiny hair-like structures on cells, are linked to various diseases, particularly focusing on the Forkhead transcription factor FOXC1 and its role in Axenfeld-Rieger Syndrome (ARS).
  • It was found that individuals with FOXC1-related ARS exhibit symptoms similar to those seen in ciliopathies, suggesting a connection between FOXC1 and ciliary function.
  • The researchers showed that manipulating the levels of Foxc1 protein affects cilia length and disrupts important signaling pathways in cells, indicating that altered cilia activity may contribute to some of the symptoms associated with FOXC1 mutations.
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