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About 4,337 results

ALLMedicine™ Osteogenesis Imperfecta Center

Research & Reviews  2,149 results

Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post ...
https://doi.org/10.1136/bcr-2020-239884
BMJ Case Reports; Supnet I, Abiera JE et. al.

Apr 6th, 2021 - This is a case of a 54-year-old woman managed as a case of osteogenesis imperfecta type 1 who sustained a left subtrochanteric fracture and eventual ankylosis of both hips after surgery and immobilisation. These injuries rendered her bedridden, ma...

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented w...
https://doi.org/10.1515/jpem-2021-0018
Journal of Pediatric Endocrinology & Metabolism : JPEM; Avci Durmusalioglu E, Isik E et. al.

Apr 6th, 2021 - Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal pr...

Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imper...
https://doi.org/10.1002/mgg3.1676
Molecular Genetics & Genomic Medicine; Xi L, Lv S et. al.

Apr 5th, 2021 - Osteogenesis imperfecta (OI) is a rare heritable bone disorder that is characterised by increased bone fragility and recurrent fractures. To date, only 19 OI patients have been reported, as caused by BMP1 gene mutations, worldwide. Here, we report...

Muscle transcriptome in mouse models of osteogenesis imperfecta.
https://doi.org/10.1016/j.bone.2021.115940
Bone Moffatt P, Boraschi-Diaz I et. al.

Apr 3rd, 2021 - Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that is most often caused by mutations in collagen type I encoding genes. Even though bone fragility is the most conspicuous finding in OI, the muscle system is also affected. ...

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Guidelines  2 results

Consensus guidelines on the use of bisphosphonate therapy in children and adolescents.
https://doi.org/10.1111/jpc.13768
Journal of Paediatrics and Child Health; Simm PJ, Biggin A et. al.

Mar 5th, 2018 - Bisphosphonate therapy is the mainstay of pharmacological intervention in young people with skeletal fragility. The evidence of its use in a variety of conditions remains limited despite over three decades of clinical experience. On behalf of the ...

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509
European Journal of Human Genetics : EJHG; van Dijk FS, Byers PH et. al.

Aug 10th, 2011 - Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cultured dermal fibroblasts to...

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Clinicaltrials.gov  2,163 results

Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post ...
https://doi.org/10.1136/bcr-2020-239884
BMJ Case Reports; Supnet I, Abiera JE et. al.

Apr 6th, 2021 - This is a case of a 54-year-old woman managed as a case of osteogenesis imperfecta type 1 who sustained a left subtrochanteric fracture and eventual ankylosis of both hips after surgery and immobilisation. These injuries rendered her bedridden, ma...

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented w...
https://doi.org/10.1515/jpem-2021-0018
Journal of Pediatric Endocrinology & Metabolism : JPEM; Avci Durmusalioglu E, Isik E et. al.

Apr 6th, 2021 - Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal pr...

Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imper...
https://doi.org/10.1002/mgg3.1676
Molecular Genetics & Genomic Medicine; Xi L, Lv S et. al.

Apr 5th, 2021 - Osteogenesis imperfecta (OI) is a rare heritable bone disorder that is characterised by increased bone fragility and recurrent fractures. To date, only 19 OI patients have been reported, as caused by BMP1 gene mutations, worldwide. Here, we report...

Muscle transcriptome in mouse models of osteogenesis imperfecta.
https://doi.org/10.1016/j.bone.2021.115940
Bone Moffatt P, Boraschi-Diaz I et. al.

Apr 3rd, 2021 - Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that is most often caused by mutations in collagen type I encoding genes. Even though bone fragility is the most conspicuous finding in OI, the muscle system is also affected. ...

see more →

News  19 results

Osteogenesis Imperfecta Foundation (OIF)
https://www.mdedge.com/endocrinology/article/165456/rare-diseases/osteogenesis-imperfecta-foundation-oif

May 11th, 2018 - The OIF will host its biennial national conference in Baltimore July 13-15, 2018,. The program will feature sessions on medical care and practical living, forums with leading experts in osteogenesis imperfect care and research, and other opportuni.

Product Update: Vistara; Ultravision trocar; CompuFlo Epidural; and Philips ultrasound
https://www.mdedge.com/node/159697/path_term/49726

Feb 28th, 2018 - PRENATAL SCREENING FOR SINGLE-GENE DISORDERS Vistara®, a non-invasive prenatal test (NIPT) from Natera, Inc, screens for single-gene disorders after 9 weeks’ gestation. Complementing the Panorama® NIPT, Vistara tests for major anatomic abnormaliti.

Osteogenesis Imperfecta Foundation Biennial Conference
https://www.mdedge.com/pediatrics/article/155756/rare-diseases/osteogenesis-imperfecta-foundation-biennial-conference

Jan 8th, 2018 - The Osteogenesis Imperfecta Foundation (OIF) will host its biennial national conference in Baltimore July 13-15, 2018. The program will feature sessions on medical advances and practical living guidance, along with forums with leading experts in o.

AACE: Bisphosphonates do not prevent fractures in adults with osteogenesis imperfecta
https://www.mdedge.com/internalmedicine/article/99935/osteoporosis/aace-bisphosphonates-do-not-prevent-fractures-adults
M. Alexander Otto

May 28th, 2015 - NASHVILLE, TENN. – Bisphosphonates help prevent fractures in some children with osteogenesis imperfecta, but they don't do the same for adults with the condition, according to a review from Johns Hopkins University and the Kennedy Krieger Institut.

Effects of IV bisphosphonates last 2-3 years in children
https://www.mdedge.com/pediatrics/article/84311/osteoporosis/effects-iv-bisphosphonates-last-2-3-years-children
M. Alexander Otto

Jul 7th, 2014 - CHICAGO – Serum osteocalcin is the first bone turnover marker to recover after intravenous bisphosphonate therapy in children with primary osteoporosis, secondary osteoporosis, or osteogenesis imperfecta, making it a good indicator that it’s time.

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Patient Education  4 results see all →