Publications by authors named "Ian 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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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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Background & Aims: The role of sarcopenic obesity (SO) in impaired cognitive function has been investigated in several observational studies, but results have been mixed. This study applied the proposed European Society for Clinical Nutrition and Metabolism (ESPEN)-European Association for the Study of Obesity (EASO) definition of SO to a representative population aged ≥50 years to identify the association between SO and cognitive function.

Methods: Data from the National Health and Nutrition Examination Survey 1999-2002 waves were used.

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Background: Lifestyle interventions can prevent type 2 diabetes (T2D) by successfully inducing behavioral changes (eg, avoiding physical inactivity and sedentariness, increasing physical activity and/or healthy eating) that reduce body weight and normalize metabolic levels (eg, HbA1c). For interventions to be successful, it is important to influence "behavioral mechanisms" such as self-efficacy, which motivate behavioral changes. Theory-based expectations of how self-efficacy, chronic stress, and mood changed over time were investigated through a group-based behavior change intervention (PREMIT).

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Background: Radial arterial access has gained interest for neurovascular procedures in recent years. Although there are no randomized control trials for neurointervention procedures using radial access, there is growing literature demonstrating its feasibility and favorable outcomes. Equipment technical improvements, like the recently introduced BENCHMARK™ BMX®81 System, have made radial navigation safer, with improved maneuverability and support for a variety of procedures.

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Objective: Sarcopenic-obesity (SO) is characterized by the concomitant presence of low muscle mass and high adiposity. This study explores the association of body composition and SO phenotypes with cognitive function in older adults.

Methods: Cross-sectional data in older adults (≥60 years) from NHANES 1999-2002 and 2011-2014 were used.

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Self-report and device-based measures of physical activity (PA) both have unique strengths and limitations; combining these measures should provide complementary and comprehensive insights to PA behaviours. Therefore, we aim to 1) identify PA clusters and clusters of change in PA based on self-reported daily activities and 2) assess differences in device-based PA between clusters in a lifestyle intervention, the PREVIEW diabetes prevention study. In total, 232 participants with overweight and prediabetes (147 women; 55.

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Article Synopsis
  • * Results showed a significant decline in insulin-stimulated leg glucose uptake and leg muscle volume after bed-rest, along with reduced myofibrillar protein synthesis and decreased muscle glycogen storage.
  • * After reintroducing exercise (short-term exercise-supplemented remobilization), the study aimed to assess potential improvements in muscle volume, protein turnover, and glucose uptake, but the effects of this remobilization were not detailed.
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Background: The Identifying Child Anxiety Through Schools-identification to intervention (iCATS-i2i) trial is being conducted to establish whether 'screening and intervention', consisting of usual school practice plus a pathway comprising screening, feedback and a brief parent-led online intervention (OSI: Online Support and Intervention for child anxiety), bring clinical and health economic benefits compared to usual school practice and assessment only - 'usual school practice', for children aged 8-9 years in the following: (1) the 'target population', who initially screen positive for anxiety problems according to a two-item parent-report child anxiety questionnaire - iCATS-2, and (2) the 'total population', comprising all children in participating classes. This article describes the detailed statistical analysis plan for the trial.

Methods And Design: iCATS-i2i is a definitive, superiority, pragmatic, school-based cluster randomised controlled trial (with internal pilot), with two parallel groups.

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Pre-treatment stratification and outcomes of neuroblastoma patients often depend on the assessment of image-defined risk factors (IDRFs) on MR Imaging, usually using Gadolinium-contrast materials which are cautioned in pediatrics. We aimed to address whether gadolinium contrast-enhanced sequences are necessary to identify the presence/absence of IDRFs. Patients with neuroblastoma with MR imaging were retrospectively identified from 2005 to 2021.

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Background: Meal pattern is a potential health determinant. Previously, mean values for properties of meal pattern, such as daily meal frequency, have been considered. Means, however, obscure variability between-day (irregular or chaotic eating).

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Objective: To design and implement a formal skills workshop for ophthalmology residents to practice breaking bad news.

Methods: A 2-session workshop was developed for 7 ophthalmology residents at the University of Alberta based on a workshop published by Ohio State University. Residents discussed the SPIKES protocol for breaking bad news, practiced mock cases with standardized patients, and listened to shared experiences from patients who had received ocular diagnoses.

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Background: Sedentary lifestyle and unhealthy diet combined with overweight are risk factors for type 2 diabetes (T2D). Lifestyle interventions with weight-loss are effective in T2D-prevention, but unsuccessful completion and chronic stress may hinder efficacy. Determinants of chronic stress and premature cessation at the start of the 3-year PREVIEW study were examined.

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Background: Dietary sugars are often linked to the development of overweight and type 2 diabetes (T2D) but inconsistencies remain.

Objective: We investigated associations of added, free, and total sugars, and glycaemic index (GI) with indices of glucose metabolism (IGM) and indices of body fatness (IBF) during a 3-year weight loss maintenance intervention.

Design: The PREVIEW (PREVention of diabetes through lifestyle Intervention and population studies in Europe and around the World) study was a randomised controlled trial designed to test the effects of four diet and physical activity interventions, after an 8-week weight-loss period, on the incidence of T2D.

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Unlabelled: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease manifesting as impaired night vision and peripheral vision loss that progresses to legal blindness. Although several trials of ocular gene therapy for XLRP have been conducted or are in progress, there is currently no approved treatment. In July 2022, the Foundation Fighting Blindness convened an expert panel to examine relevant research and make recommendations for overcoming the challenges and capitalizing on the opportunities in conducting clinical trials of RPGR-targeted therapy for XLRP.

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Background: Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the gene. Ocular features include angioid streaks, peau d'orange fundus, and drusen. We report a novel mutation causing PXE in a patient with a mixed phenotype of PXE and retinitis pigmentosa (RP).

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Overnutrition, expressed as overweight and obesity, sometimes combined with inadequate micronutrient intake, coexists together with undernutrition as the major threats of malnutrition in children. Appropriate growth and metabolism of children have been extensively studied as to their association with future metabolic diseases. It is appreciated that early growth is controlled via the biochemical pathways that support organ and tissue growth and development, energy release from dietary intake, and production and release of hormones and growth factors regulating the biochemical processes.

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Article Synopsis
  • - The study aimed to investigate how HbA (hemoglobin A1c) and glucose-related factors influence weight loss and blood sugar changes after an 8-week low energy diet in people with overweight and pre-diabetes conditions.
  • - In a sample of 2,178 individuals, neither HbA levels nor certain glucose measures correlated with changes in body weight after the diet; however, factors like higher body weight and insulin levels were linked to improved fasting glucose levels.
  • - The findings suggest that while HbA and glucose do not predict short-term weight loss success, they may affect metabolic responses to rapid weight loss, highlighting the roles of inflammation and body fat in these processes.
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Background & Aims: It is unclear if dietary adjustments to maintain energy balance during reduced physical activity can offset inactivity-induced reductions in insulin sensitivity and glucose disposal to produce normal daily glucose concentrations and meal responses. Therefore, the aim of the present study was to examine the impact of long-term physical inactivity (60 days of bed rest) on daily glycemia when in energy balance.

Methods: Interstitial glucose concentrations were measured using Continuous Glucose Monitoring Systems (CGMS) for 5 days before and towards the end of bed rest in 20 healthy, young males (Age: 34 ± 8 years; BMI: 23.

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Background: Owing to its role in glucose homeostasis, liver glycogen concentration ([LGly]) can be a marker of altered metabolism seen in disorders that impact the health of children. However, there is a paucity of normative data for this measure in children to allow comparison with patients, and time-course assessment of [LGly] in response to feeding has not been reported. In addition, carbon-13 magnetic resonance spectroscopy (C-MRS) is used extensively in research to assess liver metabolites in adult health and disease noninvasively, but similar measurements in children are lacking.

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There is interest in the impact that dietary interventions can have on preventing the transition from insulin resistance to type 2 diabetes, including a suggestion that the bioactive components of cocoa may enhance fasting insulin sensitivity. However, a role for cocoa flavanols (CF) in reducing insulin resistance in the insulin-stimulated state, an important risk factor for cardiovascular disease, is unresolved. This study investigated whether CF consumption improved whole-body insulin-mediated glucose uptake ('M') in females with overweight/obesity, using a randomized, double-blinded, placebo-controlled, parallel-group design.

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