Sleep and Phelan–McDermid Syndrome: Lessons from the International Registry and the scientific literature
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2035
Abstract: Sleep is essential to maintaining a healthy life. Sleep disturbances among individuals with neurodevelopmental disorders are not well studied, affecting their early detection and treatment. Sleep disturbances in individuals with Phelan–McDermid Syndrome (PMS) are among… read more here.
Keywords: sleep phelan; phelan mcdermid; lessons international; mcdermid syndrome ... See more keywords
Brugada Syndrome: Lessons in Risk Tolerance, Communication, and Education?
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DOI: 10.1016/j.jacc.2017.08.028
Abstract: T wenty-five years ago, Josep and Pedro Brugada first identified a small group of patients with no structural heart disease and characteristic electrocardiogram (ECG) findings of right bundle branch block morphology with persistent STsegment elevation… read more here.
Keywords: tolerance communication; risk tolerance; syndrome lessons; brugada syndrome ... See more keywords
VEXAS syndrome: lessons learnt from an early Australian case series
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DOI: 10.1111/imj.15742
Abstract: VEXAS is a newly recognised adult‐onset autoinflammatory syndrome resulting from a somatic mutation in the UBA1 gene. Herein, we present three cases of VEXAS syndrome in Sydney, Australia, that capture key clinical features and the… read more here.
Keywords: learnt early; vexas; lessons learnt; syndrome lessons ... See more keywords