1.
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira, CR, Crow, YJ, Gahl, WA, Gardner, PJ, Goldbach-Mansky, R, Hur, S, de Jesús, AA, Nehrebecky, M, Park, JW, Briggs, TA
Journal of clinical immunology. 2019;(1):75-80
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Abstract
PURPOSE Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome. METHODS We undertook clinical phenotyping, next-generation sequencing, and functional studies of type I interferon production in patient whole blood and assessed the type I interferon promoter activity in HEK293 cells transfected with wild-type or mutant DDX58 stimulated with Poly I:C. RESULTS We demonstrate a DDX58 autosomal dominant gain-of-function mutation, with constitutive upregulation of type I interferon. CONCLUSIONS DDX58 mutations may be associated with the classic features of Singleton-Merten syndrome including dental dysplasia, tendon rupture, and severe cardiac sequela.
2.
[Percutaneous transpedicular vertebroplasty and kyphoplasty for osteoporotic vertebral compression fractures].
Nanri, Y, Hayashi, H, Terasaki, T, Mitsuishi, K, Inoue, K
Nihon rinsho. Japanese journal of clinical medicine. 2007;:471-7
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[Muscular power of masticating muscles and mandibular osteoporosis].
Morii, H, Takaishi, Y
Clinical calcium. 2006;(2):264-68
Abstract
Whereas the most powerful stimuli for bone formation is supposed to be a stretching of muscles, Frost HM classified the effect of muscle on bone mineral density (BMD) into various types: 1. age-related loss of bone mineral density (BMD) is partly due to loss of muscular wasting, 2. the increase of BMD in obesity is due to the increase in muscular power to support the increased body weight and 3. the decrease of BMD in chronic wasting disease is partly due to the decrease in muscular power. Likewise, the decrease in BMD in mandibular alveolar bones will be partly due to the decrease in the power of masticating muscles, if such exists. A case report of mitochondrial encephalo-myopathy associated with impaired function of cranial nerves involving trigeminus nerves and impaired function of masticating muscles and dysphagia. This patient showed decrease in alveolar BMD and atrophy of mandibular.