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Autosomal dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. This disorder was described to have an age of onset between the age of 20-30 years or even later. Mutations in the Uromodulin (UMOD) gene were(More)
The number of reports on baclofen intoxication has increased in recent years. We report a 15-year-old boy who was referred in a state of deep coma (Glasgow Coma Scale = 3). On clinical examination, he showed sinus bradycardia with normal blood pressure. On admission to the hospital, he presented intermittent short episodes of generalized tonic–clonic(More)
AIM To evaluate intubating conditions, extubation times and outcome in preterm infants receiving remifentanil as induction agent for the INSURE procedure. METHODS In twenty-one preterm infants of 29 to 32 weeks gestation and signs of respiratory distress, we utilized remifentanil as induction agent for the INSURE procedure. Following intubation and(More)
We report on a 5-week-old male infant with recurrent respiratory distress since birth and congenital thymic hyperplasia. Acute life-threatening thymic bleeding apparently from ruptured thymic cysts into the pleural spaces complicated the clinical situation. Thoracotomy and complete thymectomy were performed. Histologic examination revealed normal thymic(More)
INTRODUCTION Acute bleeding of different genesis can be a severe, life-threatening problem in neonatology. Recombinant factor seven (rFVIIa) is known to have unique hemostatic properties in adults and older children. CASE PRESENTATION Three cases of acute life-threatening peri- and postnatal hemorrhage were successfully controlled after the application of(More)
Yersenekonzent ra t ion an llnd erreichte bei ~-~0,008 mol berei ts den max imalen \ u (v611ige Ausl6schung des Mitochondrieileffektes). In der v611igen Allfhebung des st imlll ierellden Mitochondrieneffektes durch Versene bei erhal tengebl iebener , wenn auch ve rminder t e r Glykolyse der e i l t sprechenden Ans~itze ohne Mitochondr ienzugabe erblickeil(More)
The effects of 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) (calcitriol) and parathyroid hormone (PTH) on synthesis and secretion of lipoprotein lipase (LPL) were studied in 3T3-L1 adipocytes. Expression of the vitamin D receptor was demonstrated by saturation kinetics with radiolabeled calcitriol. Incubation with calcitriol (10(-8) M) for up to 4 d resulted in a(More)
We have retrospectively reviewed our single-center experience of the treatment of early onset nephrotic syndrome (NS). From 1991 to 1998, ten children with NS were treated. Kidney biopsy showed focal sclerosis (n=1), diffuse mesangial sclerosis (n=7), and congenital NS of the Finnish type (n=2). Associated conditions included incomplete Drash syndrome(More)
OBJECTIVES Thoracostomy tubes are widely used in neonatology. Complications occurred significantly more frequently in infants, especially neonates, than in adults. Principally, the access is the modified Buelau position which takes place in the anterior axillary line at the 4th or 5th intercostal space above the margin of the ribs. AIM This study seeks to(More)