Osteogenesis imperfecta and malignant hyperthermia
نویسندگان
چکیده
منابع مشابه
Osteogenesis imperfecta
Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...
متن کاملOsteogenesis imperfecta.
Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may singl...
متن کاملMalignant Hyperthermia
''Malignant Hypothermia'' syndrome is a rare, but dangerous occurrence, the aetiology of which is not known. Up to this date 180 cases have been reported. This syndrome i's seen generally in :male children over age of two years, and especially in adolescent males. Also those people with muscular abnormalities are more susciptable to this illnes'S. Anaesthetic agent such as halothane or muscular...
متن کاملPerinatal lethal osteogenesis imperfecta.
Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, respectively. Point mutations resulting in the substitution of Gly residues in Gly-X-Y amino acid triplets of the triple helical domain of the alpha 1(I) or alpha 2(I) chains are the most frequent mutations. They int...
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ژورنال
عنوان ژورنال: Anaesthesia
سال: 1996
ISSN: 0003-2409
DOI: 10.1111/j.1365-2044.1996.tb12619.x