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Imaging predictors of adverse prognosis in Fabry disease cardiomyopathy: A systematic review and meta-analysis.
Eur J Clin Invest
January 2025
Department of Clinical Therapeutics, National and Kapodistrian University of Athens, Athens, Greece.
Background: Cardiac involvement represents the main cause of death in patients with Fabry disease (FD). Echocardiography and cardiovascular magnetic resonance (CMR) have an established diagnostic role, but their prognostic value remains unresolved. This systematic review and meta-analysis sought to assess the prognostic implications of imaging parameters in FD.
View Article and Find Full Text PDFMonogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia?
Curr Opin Psychiatry
January 2025
Centre for Healthy Brain Ageing, University of New South Wales.
Purpose Of Review: Recent advancements in molecular biomarkers and therapeutic options for Alzheimer's disease have brought into focus the need for greater progress in the second most common cause of dementia, vascular cognitive impairment and dementia (VCID). We examine how the study of monogenic causes of VCID has contributed to the understanding of its pathophysiology and potential biomarker and treatment research.
Recent Findings: It is widely accepted that conditions which disrupt the cerebral small vessels contribute to vascular pathologies including stroke and cerebral microbleeds, ultimately leading to vascular cognitive impairment and dementia.
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.
JIMD Rep
January 2025
Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Fabry disease is an X-linked lysosomal disease caused by variants in the gene. Although Fabry disease is X-linked, gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X-linked recessive disease. A family is presented here with a 36-year-old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70-year-old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.
View Article and Find Full Text PDFUnifying biology of neurodegeneration in lysosomal storage diseases.
J Inherit Metab Dis
January 2025
Department of Life Sciences, Manchester Metropolitan University, Manchester, UK.
There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single-gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 different genes converge on this central cellular phenotype is unclear.
View Article and Find Full Text PDFGenetic Assessment of Living Kidney Transplant Donors: A Survey of Canadian Practices.
Can J Kidney Health Dis
January 2025
Multiorgan Transplant Program, Division of Nephrology, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.
Background: Kidney failure is a prevalent condition with tendency for familial clustering in up to 27% of the affected individuals. Living kidney donor (LKD) transplantation is the optimal treatment option; however, in Canada, more than 45% of LKDs are biologically related to their recipients which subjects recipients to worse graft survival and donors to higher future risk of kidney failure. Although not fully understood, this observation could be partially explained by genetic predisposition to kidney diseases.
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