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32 results

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Page 1
Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.
Wei S, Yao Y, Shu M, Gao L, Zhao J, Li T, Wang Y, Xu C. Wei S, et al. Endocr Pract. 2022 Aug;28(8):760-766. doi: 10.1016/j.eprac.2022.05.003. Epub 2022 May 9. Endocr Pract. 2022. PMID: 35550181 Free article.
OBJECTIVE: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis imperfecta (OI). METHODS: We established a Chinese hospitalized cohort with OI and followed them up for an average of 6 years. ...When 3 gro …
OBJECTIVE: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis impe …
Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta.
Zhao D, Liu Y, Liu J, Hu J, Zhang Q, Wang O, Jiang Y, Xia W, Xing X, Li M. Zhao D, et al. Front Endocrinol (Lausanne). 2022 Oct 20;13:1004946. doi: 10.3389/fendo.2022.1004946. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36339400 Free PMC article.
BACKGROUND AND OBJECTIVES: Osteogenesis imperfecta (OI) is a rare disorder of abnormal production or modification of type I collagen, which is caused by mutations in COL1A1, COL1A2 or other genes. ...The cardiovascular abnormalities seemed to be correlated to …
BACKGROUND AND OBJECTIVES: Osteogenesis imperfecta (OI) is a rare disorder of abnormal production or modification of type …
Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.
Mohd Nawawi N, Selveindran NM, Rasat R, Chow YP, Abdul Latiff Z, Syed Zakaria SZ, Jamal R, Abdul Murad NA, Abd Aziz BB. Mohd Nawawi N, et al. Clin Chim Acta. 2018 Sep;484:141-147. doi: 10.1016/j.cca.2018.05.048. Epub 2018 May 25. Clin Chim Acta. 2018. PMID: 29807018
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. ...Those with quantitative mutations had milder clinical severity compared to qualitative mutations in terms of dentinogenesis imperfecta …
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. ... …
Diagnosis, follow-up and management of sleep-disordered breathing in children with osteogenesis imperfecta.
Léotard A, Taytard J, Aouate M, Boule M, Forin V, Lallemant-Dudek P. Léotard A, et al. Ann Phys Rehabil Med. 2018 May;61(3):135-139. doi: 10.1016/j.rehab.2018.02.001. Epub 2018 Feb 15. Ann Phys Rehabil Med. 2018. PMID: 29454826 Free article.
OBJECTIVES: Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. ...RESULTS: We reviewed the clinical charts of 188 patients referred to our genetic skeletal disorders reference center for OI. Among the 15 patients (8%) with polysomnogra …
OBJECTIVES: Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. ...RESULTS: We reviewed the clinical ch …
Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W. Sinikumpu JJ, et al. Injury. 2015 Aug;46(8):1440-6. doi: 10.1016/j.injury.2015.04.021. Epub 2015 Apr 22. Injury. 2015. PMID: 25943292 Review.
Osteogenesis imperfecta (OI) is a group of genetic disorders, of which Type III is the most severe among survivors. ...In this systematic review we describe the present state-of-art in treating the most severe type of OI in newborn and preschool childr …
Osteogenesis imperfecta (OI) is a group of genetic disorders, of which Type III is the most severe among survivors. ... …
Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience.
Erbaş İM, İlgün Gürel D, Manav Kabayeğit Z, Koç A, Ünüvar T, Abacı A, Böber E, Anık A. Erbaş İM, et al. Connect Tissue Res. 2022 Jul;63(4):349-358. doi: 10.1080/03008207.2021.1932853. Epub 2021 Jun 9. Connect Tissue Res. 2022. PMID: 34107839
BACKGROUND: Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile bones. ...Twenty-two patients were treated with bisphosphonates (17 of them with pamidronate, five with alendronate) with a median duration o …
BACKGROUND: Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile b …
Treatment of osteogenesis imperfecta: who, why, what?
Glorieux FH. Glorieux FH. Horm Res. 2007;68 Suppl 5:8-11. doi: 10.1159/000110463. Epub 2007 Dec 10. Horm Res. 2007. PMID: 18174695 Review.
INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone fragility and reduced bone mass. ...Innovative surgery and specific occupational and physiotherapy programs are integral parts of the treatment protocol. This approach will prev …
INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone fragility and reduced bone mass. ...I …
Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.
Lin X, Hu J, Zhou B, Zhang Q, Jiang Y, Wang O, Xia W, Xing X, Li M. Lin X, et al. J Endocrinol Invest. 2024 Jan;47(1):67-77. doi: 10.1007/s40618-023-02123-2. Epub 2023 Jun 4. J Endocrinol Invest. 2024. PMID: 37270749 Free PMC article.
Mutations in 15 OI candidate genes were identified, with COL1A1 (n = 308, 55%) and COL1A2 (n = 164, 29%) being the most common mutations, and SERPINF1 and WNT1 being the most common biallelic variants. Of the 414 probands, 48.8, 16.9, 29.2 and 5.1% had OI types I, III, IV …
Mutations in 15 OI candidate genes were identified, with COL1A1 (n = 308, 55%) and COL1A2 (n = 164, 29%) being the most common mutations, an …
Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity.
Montpetit K, Palomo T, Glorieux FH, Fassier F, Rauch F. Montpetit K, et al. Arch Phys Med Rehabil. 2015 Oct;96(10):1834-9. doi: 10.1016/j.apmr.2015.06.006. Epub 2015 Jul 2. Arch Phys Med Rehabil. 2015. PMID: 26140741
OBJECTIVE: To determine the functional outcomes associated with long-term multidisciplinary treatment, intravenous bisphosphonate treatment, orthopedic surgery, and rehabilitation in children with severe osteogenesis imperfecta (OI) (diagnosed clinically as OI types …
OBJECTIVE: To determine the functional outcomes associated with long-term multidisciplinary treatment, intravenous bisphosphonate treatment, …
Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period.
Ozdemir O, Aksoy F, Sen C. Ozdemir O, et al. J Perinat Med. 2022 Jul 1;50(9):1239-1247. doi: 10.1515/jpm-2022-0201. Print 2022 Nov 25. J Perinat Med. 2022. PMID: 35771677
RESULTS: The most common diagnoses among the 54 fetal autopsies were osteogenesis imperfecta (n=12), dysostosis (n=10), achondroplasia (n=9), arthrogryposis (n=6), and thanatophoric dysplasia (n=6). The prenatal USG and fetal autopsy findings showed complete agreeme …
RESULTS: The most common diagnoses among the 54 fetal autopsies were osteogenesis imperfecta (n=12), dysostosis (n=10), achond …
32 results