Publications by authors named "I MACDONALD"
Background: Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations.
Sarcopenic obesity (SO) is a body composition phenotype derived from the simultaneous presence in the same individual of an increase in fat mass and a decrease in skeletal muscle mass and/or function. Several protocols for the diagnosis of SO have been proposed in the last two decades making prevalence and disease risk estimates of SO heterogeneous and challenging to interpret. Dementia is a complex neurological disorder that significantly impacts patients, carers and healthcare systems.
View Article and Find Full Text PDFIntroduction: Glucose homeostasis may be dependent on liver conditions and influence health-related markers and quality of life (QoL) objective measurements. This study aimed to analyze the interactions of glycemia with liver and health status in a prediabetic population.
Subjects And Methods: This study included 2220 overweight/obese prediabetics from the multinational PREVIEW project.
Background: Image-defined risk factors (IDRFs) were introduced to provide a consensus approach for pre-treatment risk stratification on computed tomography (CT) and magnetic resonance imaging (MRI) in patients with neuroblastoma.
Objective: To assess the intra- and inter-reader agreement of radiologists in identifying IDRFs on CT.
Materials And Methods: Approval for this retrospective study was granted by our institutional research ethics board with a waiver of consent.
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.