Klinische Pädiatrie
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Klinische Pädiatrie · Sep 2012
Case ReportsPrimary erythromelalgia in a 12-year-old boy: positive response to sodium channel blockers despite negative SCN9A mutations.
Erythromelalgia is a rare disorder characterized by recurrent pain attacks, swelling and redness in the distal extremities. The primary forms of the disorder are caused by mutations in voltage-gated sodium channels. Treatment is difficult and controlled therapeutic studies offer little to no guidance. ⋯ Genetic findings for mutations in the SCN9A gene, which encodes for the α-subunit of sodium channel NaV1.7, were negative. Although initial treatment with sodium nitroprusside was ineffective, subsequent medication with lidocaine and mexiletine, in combination with gabapentin, was successful. Despite negative findings for mutations in the sodium channels, the use of sodium channel blockers should be considered in these patients.
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The accurately timed extubation of ventilated ELBW preterm infants is still a problem. With different data systems the attempt has been made to more accurately predict the successful extubation of these infants. However, there do not yet exist any satisfying solutions. ⋯ The study shows that for ELBW preterm infants the inspiratory oxygen concentration is especially important to predict a successful extubation. According to our data, the inspiratory oxygen demand before and immediately after extubation establishes the essential difference between successfully extubated and reintubated infants.
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Klinische Pädiatrie · Jul 2012
Review Case ReportsOxygen saturation in pulse oximetry in hemoglobin anomalies.
Pulse oximetry is an essential diagnostic method in pediatric emergency medicine and pediatric intensive care. However, if undetected hemoglobin anomalies are the underlying cause measurements of low oxygen saturation can be interpreted incorrectly or may lead to unnecessary examinations. In 2 recently discovered hemoglobin anomalies, Hb Bonn and Hb Venusberg, this resulted in extensive and repeat cardiopulmonary examinations. ⋯ Furthermore, with a review of the literature we provide an extensive overview of hemoglobin anomalies which result in low oxygen saturation measurement in pulse oximetry. With the examples of Hb Bonn, a novel hemoglobin mutation of the proximal α1-globin, which results in false low pulse oximetry measurements of oxygen saturation, and Hb Venusberg, a low oxygen-affine hemoglobin mutation of the β-globin, we highlight the difficulties arising from the respective case histories. In pediatric medicine, hemoglobin anomalies must be included in the diagnosis as a possible underlying cause of low oxygen saturation in case of ambiguous or conflicting pulse oximetry findings.