Rapid Cycle Deliberate Practice (RCDP) is a novel simulation-based education model that is currently attracting interest, implementation, exploration and research in medical education. In RCDP, learners rapidly cycle between deliberate practice and directed feedback within the simulation scenario until mastery is achieved. The objective of this systematic review is to examine the literature and...

Özet Rizomelik kondrodisplazi punktata (RCDP) ekstremitelerde proksimal kýsalýk, eklem kontraktürleri ve epifizlerde punktat kalsifikasyonlar ile katarakt, geliþme geriliði ve aðýr mental retardasyonla karakterize otozomal resesif kalýtýlan nadir görülen bir sendromdur. Bu yazýda sunulan yenidoðan olguya klinik, biyokimyasal ve radyolojik bulgular ile RCDP tanýsý konuldu. Olgu, RCDP’ de nadir g...

In humans the oxidation of phytanic acid is a peroxisomal function. To understand the possible mechanisms for the pathognomic accumulation of phytanic acid in plasma and body fluids of Refsum disease (RD) and rhizomelic chondrodysplasia punctata (RCDP), we investigated activities of various steps (activation, transport, and oxidation) in the metabolism of phytanic acid in peroxisomes isolated f...

Rhizomelic chondrodysplasia calcificans punctata (RCDP) is an autosomal recessive peroxisomal disorder which affects phytanic acid oxidation and de novo biosynthesis of plasmalogens in liver and fibroblasts. Peroxisomal thiolase is present in its unprocessed precursor form (44 kDa). We studied a mentally retarded 9-year-old girl with cataracts and atypical bone dysplasia. Neurological findings ...

Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation. Patients with RCDP can be subdivided into three subgroups based on biochemical analyses and complementation studies. The largest subgroup cont...

The rhizomelic form of chondrodysplasia punctata (RCDP) is a rare autosomal recessive disorder characterized by severe rhizomelic short-limb dwarfism, abnormal facies, psychomotor retardation, congenital cataracts, and joint contractures [1-4]. The condition is usually fatal within the first year of life, although a few patients have survived beyond infancy [1, 2]. We recently performed cranial...

Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of reporter-protein-encoding expression plasmids to show that perox...

The rhizomelic form of chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized biochemically by an impairment of plasmalogen biosynthesis and phytanate catabolism. We have now found that the maturation of peroxisomal 3-oxoacyl-CoA thiolase is impaired in fibroblasts from RCDP patients. To establish the subcellular localization of the 3-oxoacylCoA thiolase precursor protein, cul...

INTRODUCTION Rhizomelic chondrodysplasia punctata (RCDP) is a very rare disease. It impairs the normal development of many parts of the body. The features of this disorder include bony abnormalities, severe mental retardation, joint contractures, cataract and recurrent respiratory infections and breathing problems. Seizures and Distinctive facial features including prominent forehead, depressed...

Ethanolamine plasmalogens constitute a group of ether glycerophospholipids that, due to their unique biophysical and biochemical properties, are essential components of mammalian cellular membranes. Their importance is emphasized by the consequences of defects in plasmalogen biosynthesis, which in humans cause the fatal disease rhizomelic chondrodysplasia punctata (RCDP). In the present lipidom...