Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.

BACKGROUND Multiple acyl-CoA dehydrogenase deficiency- (MADD-), also called glutaric aciduria type 2, associated leukodystrophy may be severe and progressive despite conventional treatment with protein- and fat-restricted diet, carnitine, riboflavin, and coenzyme Q10. Administration of ketone bodies was described as a promising adjunct, but has only been documented once. METHODS We describe a Portuguese boy of consanguineous parents who developed progressive muscle weakness at 2.5 y of age, followed by severe metabolic decompensation with hypoglycaemia and coma triggered by a viral infection. Magnetic resonance (MR) imaging showed diffuse leukodystrophy. MADD was diagnosed by biochemical and molecular analyses. Clinical deterioration continued despite conventional treatment. Enteral sodium D,L-3-hydroxybutyrate (NaHB) was progressively introduced and maintained at 600 mg/kg BW/d (≈3% caloric need). Follow up was 3 y and included regular clinical examinations, biochemical studies, and imaging. RESULTS During follow up, the initial GMFC-MLD (motor function classification system, 0 = normal, 6 = maximum impairment) level of 5-6 gradually improved to 1 after 5 mo. Social functioning and quality of life recovered remarkably. We found considerable improvement of MR imaging and spectroscopy during follow up, with a certain lag behind clinical recovery. There was some persistent residual developmental delay. CONCLUSION NaHB is a highly effective and safe treatment that needs further controlled studies.

Old-Boy Network: Militärdienst und ziviler Berufserfolg in der Schweiz

Eine zumindest bis vor kurzem in der Schweiz noch populäre Ansicht lautet, dass eine Karriere in der Armee den beruflichen Erfolg im zivilen Leben stark befördert. Obwohl militärische und berufliche Karriere als Besonderheit des schweizerischen Milizsystems im biografischen Verlauf miteinander verschränkt sind, bleibt aber der tatsächliche Einfluss der militärischen Karriere auf den Berufserfolg empirisch noch nachzuweisen. Zudem ist auch die Frage nach den möglichen Gründen zu stellen. Ziel dieses Beitrags ist also erstens die empirische Prüfung des positiven Effekts der militärischen auf die zivile Karriere. Zweitens sollen mögliche Ursachen gegenübergestellt werden. Als solche werden insbesondere Selbstselektion, der Erwerb von Humankapital (Führungskompetenzen) und der Aufbau eines wirkungsvollen Beziehungsnetzes in Betracht gezogen. Die Analysen anhand der Daten des Schweizer Arbeitsmarktsurveys 1998 zeigen erstens, dass höhere militärische Ränge auch bei Kontrolle von Bildung und Berufserfahrung mit erhöhtem Erwerbseinkommen einhergehen. Zweitens zeigt sich, dass dieser Einkommensbonus allem Anschein nach weder auf Mechanismen der Selbstselektion noch auf dem Erwerb von besonders gewinnbringendem Humankapital beruht. Vielmehr ist zu vermuten, dass der größere Berufserfolg von Milizoffizieren mit ihrem an "wertvollen" Beziehungen reichen sozialen Netzwerk zusammenhängt.

Radiation dose in pneumatic reduction of ileo-colic intussusceptions--results from a single-institution study

BACKGROUND Air enema under fluoroscopy is a well-accepted procedure for the treatment of childhood intussusception. However, the reported radiation doses of pneumatic reduction with conventional fluoroscopy units have been high in decades past. OBJECTIVE To compare current radiation doses at our institution to past doses reported by others for fluoroscopic-guided pneumatic reduction of ileo-colic intussusception in children. MATERIALS AND METHODS Since 2007 radiologists and residents in our department who perform reduction of intussusceptions have received a radiation risk training. We retrospectively analyzed the data of 45 children (5 months-8 years) who underwent a total of 48 pneumatic reductions of ileo-colic intussusception between 2008 and 2012. We analyzed data for screening time and dose area product (DAP) and compared these data to those reported up to and including the year 2000. RESULTS Our mean screening time measured by the DAP-meter was 53.8 s (range 1-320 s, median 33.0 s). The mean DAP was 11.4 cGy ∙ cm(2) (range 1-145 cGy ∙ cm(2), median 5.45 cGy ∙ cm(2)). There was one bowel perforation, in a 1-year-old boy requiring surgical revision. Only three studies in the literature presented radiation exposure results on children who received pneumatic or hydrostatic reduction of intussusception under fluoroscopy. Screening times and dose area products in those studies, which were published in the 1990 s and in the year 2000, were substantially higher than those in our sample. CONCLUSION Low-frequency pulsed fluoroscopy and other dose-saving keys as well as the radiation risk training might have helped to improve the quality of the procedure in terms of radiation exposure.