BackgroundMultiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. In this study, we evaluated the genetic backgrounds and mutational patterns in Japanese families with MO.ResultsWe evaluated 112 patients in 71 families with MO. Genomic DNA was isolated from peripheral blood leucocytes. The exons and exon/intron junctions of EXT1 and EXT2 were directly sequenced after PCR amplification. Fifty-two mutations in 47 families with MO in either EXT1 or EXT2, and 42.3 % (22/52) of mutations were novel mutations. Twenty-nine families (40.8 %) had mutations in EXT1, and 15 families (21.1 %) had mutations in EXT2. Interestingly, three families (4.2 %) had mutations in both EXT1 and EXT2. Twenty-four families (33.8 %) did not exhibit mutations in either EXT1 or EXT2. With regard to the types of mutations identified, 59.6 % of mutations were inactivating mutations, and 38.5 % of mutations were missense mutations.ConclusionsWe found that the prevalence of EXT1 mutations was greater than that of EXT2 mutations in Japanese MO families. Additionally, we identified 22 novel EXT1 and EXT2 mutations in this Japanese MO cohort. This study represents the variety of genotype in MO.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-016-0359-4) contains supplementary material, which is available to authorized users.
This article presents a case of insufficiency fracture of medial proximal tibia caused by long-term administration of saccharated ferric oxide (SFO) in a 77-year-old female. In this case, 2-year administration of SFO for iron deficit anemia induced hypophosphatemic osteomalacia and finally resulted in an insufficiency fracture of medial proximal tibia. Hypophosphatemia and pain due to the insufficiency fracture were recovered promptly by withdrawing SFO administration and rest. This case represented varus deformity of the knee associated with osteoarthritis, which may also cause the insufficiency fracture of medial proximal tibia in addition to osteomalacia due to long-term administration of SFO. Long-term SFO administration should be avoided because of a definitive risk of osteomalacia and fragile fracture.
A typical lower extremity injury in snowboarding is lacerations/contusions caused by collision with other snow sport participants. Lower extremity injuries in snowboarding differ considerably from well-known upper extremity injuries in terms of injury types and mechanisms. The incidence of lower extremity injuries is high and deserves further attention.
In the osteoarthritic knee, the CS concentration and chain length were reduced closer to the more degraded cartilage with decreasing CS glycosyltransferase gene expression. Inhibition of CS glycosyltransferase gene expression may reduce CS chain length, which may contribute to OA progression.
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