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About 2,270 results

ALLMedicine™ Osteogenesis Imperfecta Center

Research & Reviews  857 results

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Sibli...
https://doi.org/10.12659/AJCR.935526
The American Journal of Case Reports; Cruz-Centeno N, Saenz-Maisonet JF et. al.

May 19th, 2022 - BACKGROUND Osteogenesis imperfecta is a skeletal disease with a range of phenotypes, depending on the genetic mutation. Individuals with osteogenesis imperfecta type I often have mutations in COL1A genes. This disease can be associated with chest ...

Dissecting the phenotypic variability of osteogenesis imperfecta.
https://doi.org/10.1242/dmm.049398
Disease Models & Mechanisms; Garibaldi N, Besio R et. al.

May 17th, 2022 - Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the...

Genotype-phenotype relationship and follow-up analysis of a Chinese osteogenesis imperf...
https://doi.org/10.1016/j.eprac.2022.05.003
Endocrine Practice : Official Journal of the American Col... Wei S, Yao Y et. al.

May 14th, 2022 - Evaluating the genotype-phenotype relationship and the effect of treatment on the clinical course of Osteogenesis imperfecta (OI). We established a Chinese hospitalized OI cohort and followed up for an average of 6 years. All the patients were con...

Experiences of Women of Short Stature During the Perinatal Period.
https://doi.org/10.1016/j.jogn.2022.03.006
Journal of Obstetric, Gynecologic, and Neonatal Nursing :... Nthenge S, Smith L et. al.

May 14th, 2022 - To explore the experiences of women of short stature, including women with dwarfism and osteogenesis imperfecta (OI), during the perinatal period. Qualitative descriptive. Telephone interviews with women of short stature from across the United Sta...

Evaluation and Treatment of Patients With Connective Tissue Disease
https://clinicaltrials.gov/ct2/show/NCT00076830

May 13th, 2022 - This protocol seeks to formalize the application of accepted diagnostic and therapeutic measures in the study of individuals with known or suspected bone-related connective tissue disorders, including Osteogenesis Imperfecta and melorheostosis. It...

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Guidelines  1 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 6th, 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 ...

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Drugs  4 results see all →

Clinicaltrials.gov  27 results

Evaluation and Treatment of Patients With Connective Tissue Disease
https://clinicaltrials.gov/ct2/show/NCT00076830

May 13th, 2022 - This protocol seeks to formalize the application of accepted diagnostic and therapeutic measures in the study of individuals with known or suspected bone-related connective tissue disorders, including Osteogenesis Imperfecta and melorheostosis. It...

Genetics of Ehlers-Danlos Syndrome
https://clinicaltrials.gov/ct2/show/NCT03093493

Apr 28th, 2022 - Ehlers-Danlos Syndrome (EDS) is a genetic disease that affects collagen synthesis and structure resulting in multisystem connective tissue involvement with twelve different subtypes. The clinical manifestations of EDS include skin hyperextensibili...

Experimental Evaluation of Back Braces for the Treatment of Spinal Deformity Produced With 3D Printing Technology
https://clinicaltrials.gov/ct2/show/NCT04282408

Mar 31st, 2022 - The proposed investigation is a pilot study that involves pediatric patients affected by spinal deformity (Adolescent Idiopathic Scoliosis and Osteogenesis Imperfecta). The main goal is to evaluate the acceptability, the safety and the overall sat...

Clear Aligners for the Treatment of Dental Malocclusion in OI Types III and IV
https://clinicaltrials.gov/ct2/show/NCT04815564

Feb 28th, 2022 - Osteogenesis imperfecta (OI) is a heritable connective tissue disorder leading to frequent fractures and bone deformities. In about 90% of individuals with OI, the disease is caused by dominant mutations in one of the two genes coding for collagen...

Study to Assess the Efficacy and Safety of Setrusumab in Participants With Osteogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT05125809

Feb 24th, 2022 - Participants in Cohort A will be randomized 1:1:1 to receive setrusumab (low or high dose) or placebo. Participants will continue receiving their assigned dose of setrusumab until the phase 3 dose is determined. After the phase 3 dose(s) of setrus...

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News  14 results

Anti-TGF-Beta Therapy Promising in Osteogenesis Imperfecta
https://www.medscape.com/viewarticle/969125

Feb 28th, 2022 - NEW YORK (Reuters Health) - In adults with osteogenesis imperfecta (OI), a single administration of fresolimumab, a pan-anti-TGF-beta neutralizing antibody, improved bone mass and turnover in a phase 1 study. Currently, there is no specific therap...

Gene, Stem-Cell Therapies Emerge as Options for Fetal Care
https://www.medscape.com/viewarticle/933799

Jul 14th, 2020 - NEW YORK (Reuters Health) - Fetal gene and stem-cell therapies are emerging as treatment options for select conditions, according to a new review. "Fetal cellular and gene therapies are feasible and primed to become viable treatments for a number ...

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.

Osteogenesis Imperfecta Foundation Biennial Conference
https://www.mdedge.com/clinicianreviews/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.

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Patient Education  5 results see all →