Mol Genet Metab Rep
September 2021
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs. The screening parameter free carnitine, however, is influenced by maternal conditions due to placental transfer.
View Article and Find Full Text PDFThe COVID-19 pandemic also called for the teaching of practical skills to develop teaching formats outside of classroom teaching. Selected physical examination techniques (musculoskeletal system, neurological system) were taught via video conference using a modified Peyton method. The core element was the mutual, real demonstration of the respective skill by student tutor and student with immediate possible correction.
View Article and Find Full Text PDFThe COVID-19 pandemic led to a rapid switch from undergraduate classroom teaching to online-teaching; a challenging process for teachers and students. Based on a recent online survey among German pediatric university hospitals the "AG Lehre der DGKJ" (teaching working group of the German Society of Pediatrics and Adolescent Medicine) summarizes latest experiences with e‑learning during the summer term of 2020. The survey participants from 17 pediatric university hospitals report that the large spectrum of e‑learning formats could sufficiently replace classical lectures and seminars but could not fully replace teaching involving direct contact to patients.
View Article and Find Full Text PDFBackground: Patients after aortic coarctation (CoA) repair show impaired aortic bioelasticity and altered left ventricular (LV) mechanics, predisposing diastolic dysfunction. Our purpose was to assess aortic bioelasticity and LV properties in CoA patients who underwent endovascular stenting or surgery using cardiovascular magnetic resonance (CMR) imaging.
Methods: Fifty CoA patients (20.
Persistent or recurrent pulmonary arterial hypertension (PAH) following complete surgical repair of congenital heart disease (CHD) represents one of the largest group of PAH associated with CHD (PAH-CHD) in recent registry studies and seems to have a particularly poor prognosis. However, little is known about this fourth clinical subclass of PAH-CHD, especially in children. The purpose of this study was to assess specific characteristics of invasive hemodynamics of this disease in children, including acute vasodilator testing (AVT) and pulmonary endothelial function (PEF) and to compare to patients with idiopathic PAH (IPAH), who usually present with a similar fatal clinical course.
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