Acta paediatrica
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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases. ⋯ Due to its potential lethal outcome, exclusion or confirmation of catecholaminergic polymorphic ventricular tachycardia in children with physical and emotional syncope is mandatory. We report a case of catecholaminergic polymorphic ventricular tachycardia in a three-year-old child only diagnosed by genetic mapping.
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To evaluate serum ferritin level in children with severe sepsis and septic shock and its association with mortality. ⋯ Ferritin is raised in children with septic shock and high ferritin level is associated with poorer outcome.
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We have shown previously that blood sampling via umbilical artery catheters decreases cerebral oxygenation and cerebral blood volume in preterm infants. To evaluate alternative methods, we assessed the effects of blood sampling via umbilical vein catheters in a cohort of preterm infants. ⋯ Umbilical vein blood sampling reduces cerebral oxygenation and cerebral blood volume. The magnitude of the effects is similar to those during umbilical artery blood sampling.
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To evaluate levels of C-reactive protein (CRP) during febrile episodes in children with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). ⋯ Levels of CRP are substantially increased during febrile episodes in children with PFAPA. High levels of CRP may suggest a role for immunological mechanisms in PFAPA, and may raise the suspicion of PFAPA when measured in children with periodic fever of unknown origin.