Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy
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چکیده
منابع مشابه
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach
Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. Herein we present successful bisphosphonate therapy in three affected patients. Patients were treated with bisphosphonates (either pamidronate or zoledronate) for different ...
متن کاملMulticentric Carpotarsal Osteolysis Mimicking Juvenile Idiopathic Arthritis
Background Multicentric carpotarsal osteolysis (MCTO), a skeletal dysplasia presents in early childhood mimicking juvenile idiopathic arthritis (JIA). Recognition of this syndrome is essential to avoid unnecessary treatment with immunosuppressive agents because of different course and treatment. Case Report A 3-year-old boy presented with swelling and restriction of right wrist joint and left ...
متن کاملIdiopathic multicentric osteolysis with acro-osteolysis. A case report.
We report a case of multicentric massive osteolysis. A 52-year-old woman presented with a three-year history of progressive deformities of the hands. She had osteolytic lesions of the metacarpals and metatarsals, and resorption of the terminal phalanges. During follow-up over four years osteolysis spread to affect the ribs, clavicles, mandible, and long bones. There was no family history of any...
متن کاملIdiopathic multicentric osteolysis: a case report and literature review.
Osteolysis is defined as destruction of bone by resorption. Usually this resorption is associated with some underlying disorder and classified as secondary osteolytic syndromes. Primary idiopathic osteolysis is rare. It is characterised by the spontaneous onset of bone resorption without known causative factors. Bones which previously appeared normal begin to undergo partial or complete resorpt...
متن کاملpostnatal studies of bats (pipistrellus kuhlii and miniopterus schreibersii) & histomorphology and histochemistry studies of organs and diseases of (neurergus microspilotus and n. kaiseri)
1. to determine whether difference in birth body mass influenced growth performance in pipistrellus kuhlii we studied a total of 12 captive-born neonates. bats were assigned to two body mass groups: light birth body mass (lbw: 0.89 ± 0.05, n=8) and heavy birth body mass (hbw: 1.35 ± 0.08, n=4). heavier body mass at birth was associated with rapid postnatal growth (body mass and forearm length) ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2015
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37447