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Advances in the Classification and Treatment of Osteogenesis Imperfecta.
Thomas IH, DiMeglio LA. Thomas IH, et al. Curr Osteoporos Rep. 2016 Feb;14(1):1-9. doi: 10.1007/s11914-016-0299-y. Curr Osteoporos Rep. 2016. PMID: 26861807 Review.
Osteogenesis imperfecta (OI) is a rare disorder of type 1 collagen with 13 currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. ...In addition to the skeletal phenotype, common addition …
Osteogenesis imperfecta (OI) is a rare disorder of type 1 collagen with 13 currently identified types attributable to i …
What type of valve is most appropriate for osteogenesis imperfecta patients?
Dimitrakakis G, Challoumas D, von Oppell UO. Dimitrakakis G, et al. Interact Cardiovasc Thorac Surg. 2014 Sep;19(3):499-504. doi: 10.1093/icvts/ivu152. Epub 2014 May 29. Interact Cardiovasc Thorac Surg. 2014. PMID: 24876219 Review.
A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was in osteogenesis imperfecta (OI) patients with valve disease undergoing valve replacement which type of valve (bioprosthetic or mechanical) is m …
A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was in osteogenesis …
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
Folkestad L. Folkestad L. Dan Med J. 2018 Apr;65(4):B5454. Dan Med J. 2018. PMID: 29619932 Free article. Review.
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. ...The study included 39 patients with OI type I, and 39 healthy age and gender ma …
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are invol …
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
Caengprasath N, Theerapanon T, Porntaveetus T, Shotelersuk V. Caengprasath N, et al. J Transl Med. 2021 Mar 20;19(1):114. doi: 10.1186/s12967-021-02779-5. J Transl Med. 2021. PMID: 33743732 Free PMC article. Review.
While its functional role has become much clearer in the recent years, how mutations in the MBTPS2 gene lead to several human disorders with different phenotypes including Ichthyosis Follicularis, Atrichia and Photophobia syndrome (IFAP) with or without BRESHECK syndrome, Keratos …
While its functional role has become much clearer in the recent years, how mutations in the MBTPS2 gene lead to several human disorders with …
The exciting prospects of new therapies with mesenchymal stromal cells.
Prockop DJ. Prockop DJ. Cytotherapy. 2017 Jan;19(1):1-8. doi: 10.1016/j.jcyt.2016.09.008. Epub 2016 Oct 18. Cytotherapy. 2017. PMID: 27769637 Free PMC article. Review.
Among the earliest experiments was administration of MSCs from normal mice to transgenic mice that developed brittle bones because they expressed a mutated gene for type 1 collagen isolated from a patient with osteogenesis imperfecta. The results prompted a c …
Among the earliest experiments was administration of MSCs from normal mice to transgenic mice that developed brittle bones because they expr …
Pharmacological interventions for pain in children and adolescents with life-limiting conditions.
Beecham E, Candy B, Howard R, McCulloch R, Laddie J, Rees H, Vickerstaff V, Bluebond-Langner M, Jones L. Beecham E, et al. Cochrane Database Syst Rev. 2015 Mar 13;2015(3):CD010750. doi: 10.1002/14651858.CD010750.pub2. Cochrane Database Syst Rev. 2015. PMID: 25768935 Free PMC article. Review.
Participants had cerebral palsy (CP) in five of the studies and osteogenesis imperfecta (OI) in the other four. Participants across the trials ranged in age from 2 to 19 years. ...
Participants had cerebral palsy (CP) in five of the studies and osteogenesis imperfecta (OI) in the other four. Participants a …
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC. Menezes AH, et al. Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22. Childs Nerv Syst. 2022. PMID: 34806157 Review.
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection …
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, …
[Biochemical markers of bone turnover. New aspect. Metabolic bone markers in osteogenesis imperfecta].
Tanaka H. Tanaka H. Clin Calcium. 2009 Aug;19(8):1142-7. Clin Calcium. 2009. PMID: 19638698 Review. Japanese.
Osteogenesis imperfecta (OI) is a heterogeneous group of rare inherited bone and connective tissue disorders resulting from defect in collagen synthesis or function. It is characterized by bone fragility, which shows wide range of severities. The heterozygous mutati …
Osteogenesis imperfecta (OI) is a heterogeneous group of rare inherited bone and connective tissue disorders resulting from de …