Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1955
Abstract: Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present in the first two decades of life… read more here.
Keywords: paediatric patients; neurological features; molecular neurological; features melas ... See more keywords
Marfan syndrome in a paediatric cohort: the importance of family history.
Sign Up to like & getrecommendations! Published in 2023 at "Cardiology in the young"
DOI: 10.1017/s1047951123000422
Abstract: Marfan syndrome is a rare connective tissue disorder secondary to mutations in the FBN1 gene, characterised by skeletal, ocular, and cardiovascular manifestations. We present an extensive cohort of paediatric patients with Marfan syndrome highlighting the… read more here.
Keywords: marfan syndrome; importance; paediatric cohort; syndrome paediatric ... See more keywords
Dentofacial manifestations of fetal warfarin syndrome in a paediatric patient
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DOI: 10.1136/bcr-2021-243890
Abstract: Anticoagulant therapy is commonly indicated during pregnancy to prevent thrombosis and prevention of prosthetic heart valve-associated thromboembolic events. Warfarin is a synthetic anticoagulant with low molecular weight and can cross the placenta resulting in congenital… read more here.
Keywords: fetal warfarin; warfarin syndrome; manifestations fetal; syndrome paediatric ... See more keywords
Burnout Syndrome in Paediatric Nurses: A Multi-Centre Study
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DOI: 10.3390/ijerph18031324
Abstract: Background: Burnout syndrome is an increasingly prevalent problem, characterised by emotional exhaustion (EE), depersonalization (D), and low personal accomplishment (PA), feelings that appear with prolonged exposure to stress-inducing situations. The syndrome alters physical well-being and… read more here.
Keywords: high levels; study; syndrome paediatric; nurses working ... See more keywords