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About 2,235 results

ALLMedicine™ Osteogenesis Imperfecta Center

Research & Reviews  848 results

Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT00001594

May 20th, 2022 - We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 30 years. A consistent objective throughout this study is to obtain a comprehensive assessment of the natural history and ...

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...

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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  23 results

Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT00001594

May 20th, 2022 - We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 30 years. A consistent objective throughout this study is to obtain a comprehensive assessment of the natural history and ...

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...

Tranexamic Acid During Telescoping Nail Application In Osteogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT05321199

Apr 15th, 2022 - Osteogenesis imperfecta (OI) is a rare inherited pathology that consists of abnormal type one collagen synthesis that affects all structures in the body. The most important and early sign of this pathology is the appearance of fractures after low-...

Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
https://clinicaltrials.gov/ct2/show/NCT05317637

Apr 8th, 2022 - This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. Evaluations will include family and medical history, self-report questionnaires, phys...

Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI
https://clinicaltrials.gov/ct2/show/NCT02352753

Apr 5th, 2022 - To evaluate the effect of denosumab in lumbar spine bone mineral density (BMD) Z-score at 12 months, as assessed by dual-energy X-ray absorptiometry (DXA), in children 2 to 17 years of age (at the time of screening) on a 3-Month Dosing Regimen wit...

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News  13 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 Plans Conference
https://www.mdedge.com/clinicianreviews/article/158949/rare-diseases/osteogenesis-imperfecta-foundation-plans-conference

Feb 20th, 2018 - July 13-15, 2018, will be the dates of the biennial conference of the Osteogenesis Imperfecta Foundation. To take place in Baltimore, the program will feature forums with leading experts, practical living advice and research.

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.

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Patient Education  5 results see all →