Osteogenesis Imperfecta (brittle bone disease) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients
ABSTRACTAtypical femur fractures (AFFs), considered rare associations of bisphosphonates, have also been reported in patients with monogenic bone disorders without bisphosphonate use. The exact association between AFFs and monogenic bone disorders remains unknown. Our aim was to determine the prevalence of monogenic bone disorders in a Dutch AFF cohort. AFF patients were recruited from two specialist bone centers in the Netherlands. Medical records of the AFF patients were reviewed for clinical features of monogenic bone disorders. Genetic variants identified by whole-exome sequencing in 37 candidate genes involved in mono...
Source: Journal of Bone and Mineral Research - April 20, 2023 Category: Orthopaedics Authors: Wei Zhou, Jeroen GJ Rooij, Denise M Laarschot, Zografia Zervou, Hennie Bruggenwirth, Natasha M Appelman ‐Dijkstra, Peter R Ebeling, Serwet Demirdas, Annemieke JMH Verkerk, M Carola Zillikens Tags: Research Article Source Type: research

Reducing fracture incidence in children with osteogenesis imperfecta: contribution of orthotics to bisphosphonates treatment
CONCLUSIONS: Bracing of OI patients has an additive effect on bisphosphonate treatment in fracture prevention which should lead to the reconsideration of a hybrid approach to OI management.Implications for rehabilitationTwo key goals of treatment of Osteogenesis Imperfecta (OI) patients include decreasing fracture incidence and improving function and independence as supported by a multi-disciplinary approach that combines medical, orthopaedic and rehabilitation treatments.Although the literature provides evidence that bisphosphonates reduce the frequency of fractures, there have not been reports of its effect when used wit...
Source: Disability and Rehabilitation - April 17, 2023 Category: Rehabilitation Authors: S Eylon E Kornitzer C Wever A Rigbi P L Weiss S Meyer Source Type: research

The anesthetic consideration of a gravid patient with osteogenesis imperfecta undergoing cesarean section: A case report.
We present a case of an OI patient with severe scoliosis and an anticipated difficult airway undergoing cesarean section, with details on perioperative assessment and strategy of anesthesia. (Source: Clinical Case Reports)
Source: Clinical Case Reports - April 8, 2023 Category: General Medicine Authors: Tao Hu, Tao Chen, Lin Luo, Ying Zhou, Yu Zhang, Qiang Fu Tags: CASE REPORT Source Type: research

CRISPR/Cas9 correction of a dominant cis ‐double‐variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells
ABSTRACTOsteogenesis imperfecta (OI) is a hereditary skeletal disorder that is mainly caused by variants inCOL1A1/2. So far, no specific treatment has been developed to correct its underlying etiology. We aimed to gain a better understanding of the pathological mechanisms of OI and develop gene therapies to correct OI-causing variants. A de novel cis-double-variant c.[175C>T; 187T>A] inCOL1A1 was identified from a 5-year-old OI patient by whole-exome sequencing (WES). Three peptide nucleic acids (PNAs) were designed and then transfected patient-derived fibroblasts. PNA2 affected the translational strand and induced a...
Source: Journal of Bone and Mineral Research - April 4, 2023 Category: Orthopaedics Authors: Yixuan Cao, Lulu Li, Xiuzhi Ren, Bin Mao, Yujiao Yang, Huan Mi, Yun Guan, Shan Li, Siji Zhou, Xin Guan, Tao Yang, Xiuli Zhao Tags: Research Article Source Type: research

GSE220601 Effect of Sclerostin Inactivation in a Mouse Model of Severe Dominant Osteogenesis Imperfecta
Contributors : Juliana Marulanda ; Josephine T Tauer ; Iris Boraschi-Diaz ; Ghalib Bardai ; Frank RauchSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusOsteogenesis imperfecta (OI) is a rare bone disease that is associated with fractures and low bone mass. Sclerostin inhibition is being evaluated as a potential approach to increase bone mass in OI. We had previously found that in Col1a1Jrt/+ mice, a model of severe OI, treatment with an anti-sclerostin antibody had a minor effect on the skeletal phenotype. In the present study, we assessed the effect of genetic sclerostin inactivat...
Source: GEO: Gene Expression Omnibus - April 4, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Transition of young adults with metabolic bone diseases to adult care
This article intends to provide a brief review of research and guidelines for transitions of care more generally, followed by a more detailed treatment of bone disorders specifically. Considerations for such transitions include final adult height, fertility, fetal risk, heritability, and access to appropriately identified specialists. A nutrient-dense diet, optimal mobility, and adequate vitamin D stores are protective factors for these conditions. Primary bone disorders include hypophosphatasia, X-linked hypophosphatemic rickets, and osteogenesis imperfecta. Metabolic bone disease can also develop secondarily as a sequela...
Source: Frontiers in Endocrinology - March 17, 2023 Category: Endocrinology Source Type: research

Standardized growth charts for children with osteogenesis imperfecta
CONCLUSION: Our standardized OI type- and sex-specific growth charts can be used to assess the growth of individuals with OI from infancy to adulthood.IMPACT: Standardized osteogenesis imperfecta (OI) type- and sex-specific growth charts across all pediatric ages do not exist. Our study is the first to generate OI type- and sex-specific growth charts across all pediatric ages. Our height multiplier curves can be utilized to predict adult height in children with OI.PMID:36922619 | DOI:10.1038/s41390-023-02550-0 (Source: Pediatric Research)
Source: Pediatric Research - March 16, 2023 Category: Pediatrics Authors: Marie-Eve Robinson Damian Rauch Francis H Glorieux Frank Rauch Source Type: research

Management of anesthesia for cesarean in gravida combined osteogenesis imperfecta: A case report
Asian J Surg. 2023 Mar 14:S1015-9584(23)00310-X. doi: 10.1016/j.asjsur.2023.03.020. Online ahead of print.NO ABSTRACTPMID:36925426 | DOI:10.1016/j.asjsur.2023.03.020 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - March 16, 2023 Category: Surgery Authors: Lu Gan Peining Yang Yujie Su Hong Zhang Source Type: research

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress
EMBO Mol Med. 2023 Mar 14:e16834. doi: 10.15252/emmm.202216834. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing. We identified a homozygous missense mutation in SEC16B in a child with vertebral fractures, leg bowing, short stature, muscular hypotonia, and bone densitometric and histomorphometric features in keeping with OI with distinct ultrastructural features. In line with the putative fu...
Source: Molecular Medicine - March 14, 2023 Category: Molecular Biology Authors: Ahmed El-Gazzar Barbara Voraberger Frank Rauch Mario Mairhofer Katy Schmidt Brecht Guillemyn Goran Mitulovi ć Veronika Reiterer Margot Haun Michaela M Mayr Johannes A Mayr Susanne Kimeswenger Oliver Drews Vrinda Saraff Nick Shaw Nadja Fratzl-Zelman Sofie Source Type: research