Myocardial deformation assessed by CMR in children after multisystem inflammatory syndrome (MIS-C).
Sign Up to like & getrecommendations! Published in 2021 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2021.11.036
Abstract: BACKGROUND Short-term sequelae of Multisystem Inflammatory Syndrome in Children (MIS-C), recently published by our institution, showed rapid improvement of the cardiac abnormalities within a few weeks after the onset of the disease. However, subtle residual… read more here.
Keywords: myocardial deformation; inflammatory syndrome; multisystem inflammatory; strain ... See more keywords
The prevalence of underweight and obesity in CHD. Response to body mass index and age are associated with ventricular end-diastolic pressure in adults with a Fontan circulation.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122003304
Abstract: INTRODUCTION The aim of the study is to determine the impact of obesity in children with CHD which is severe enough to require invasive catheterisation. METHODOLOGY This is a retrospective study in a cardiac catheterisation… read more here.
Keywords: centile; body mass; mass index; obesity ... See more keywords
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14101
Abstract: To the Editor, The ultrarare clinical association of Duane retraction syndrome (DRS) with or without deafness and inner ear defects, has been recently related with deleterious variants in MAFB (MIM*608968) and found in few sporadic… read more here.
Keywords: retraction syndrome; inner ear; centile; duane retraction ... See more keywords
Hypophosphataemic rickets: The long and short of it
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.15277
Abstract: A 5-year-old girl of Cook Island/Caucasian descent presented with short stature, progressive bowing leg deformities and pain that were limiting mobility and precluding age-appropriate activities such as climbing on playground equipment (Fig. 1). There was… read more here.
Keywords: long short; hypophosphataemic rickets; calcium; rickets long ... See more keywords
Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2019-127185
Abstract: Introduction: Short telomere syndromes (STS) are accelerated aging syndromes affecting hematopoietic, pulmonary, hepatobiliary and/or immunological systems. Clinical assessment of age-appropriate telomere length (TL) is performed using flow cytometry & fluorescence in-situ hybridization (flowFISH). Screening for… read more here.
Keywords: 10th centile; int high; low int; cls ... See more keywords
Reduced growth velocity across the third trimester is associated with placental insufficiency in fetuses born at a normal birthweight: a prospective cohort study
Sign Up to like & getrecommendations! Published in 2017 at "BMC Medicine"
DOI: 10.1186/s12916-017-0928-z
Abstract: BackgroundWhile being small-for-gestational-age due to placental insufficiency is a major risk factor for stillbirth, 50% of stillbirths occur in appropriate-for-gestational-age (AGA, > 10th centile) fetuses. AGA fetuses are plausibly also at risk of stillbirth if placental… read more here.
Keywords: growth velocity; growth; placental insufficiency; centile ... See more keywords