Dyggve‐melchior‐clausen Dysplasia

Abstract

The results of light and electron microscopic examination and of biochemical proteoglycan studies of costochondral and iliac crest biopsies from a recently diagnosed case of Dyggve-Melchior-Clausen dysplasia are reported. At light microscopy of resting cartilage large lacunae containing clusters of five or more chondrocytes were seen in some areas. In the hyaline cartilage there were scattered fibrous foci but no mineralized areas. Electron microscopy revealed chondrocytes containing widened cisternae of rough endoplasmic reticulum and vesicles coated with a smooth single-layered membrane. The content of the cisternae and of the vesicles was amorphous. Throughout the cartilage a considerable proportion of the chondrocytes displayed more or less pronounced necrobiotic changes. The biochemical analysis showed an increased amount of glucosaminoglycans in the cartilage and indicated that the ability of proteoglycan monomers to reaggregate to hyaluronic acid chains was decreased. Our findings support the suggestion that Dyggve-Melchior-Clausen dysplasia is due to a disturbance in proteoglycan metabolism.

A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome

“…Histochemical analysis of iliac crest growth plates in patients with DMC syndrome has revealed that a defect in endochondral ossification may cause skeletal dysplasia [ 8 , 9 ]. Studies thus far have not evaluated the GH axis in patients with this syndrome, and the role of rGH therapy in this disorder has not been studied either.…”

Μελετη Πολυσακχαριτων Και Πρωτεογλυκανων Σε Θαλασσια Κεφαλοποδα

“…Η χάραξη της πρότυπης καμπύλης έγινε με τη μέτρηση της απορρόφησης πρότυπων διαλυμάτων Ν-ακετυλο-νευραμινικού ο ξέος όγκου 0,2 ml και συγκέντρωσης 10-60 \ig/ml. (238). Η κατανομή του μοριακού μεγέθους των ετεροττολυσακχαριτών, πριν και μετά από β-απόσπαση, προσδιορί στηκε με χρωματογραφία σε τρεις συνδεδεμένες μεταξύ τους, HPLC στήλες,μ-Bondagel Ε-500.…”