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.

Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25:104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which pat...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research

Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research

Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozygous pathogenic mutations in COL1A2 c.838G > A (p.Gly280Ser) and in ALPL c.1333T > C (p.Ser445Pro). After multidisciplinary meeting, a diagnostic transiliac bone biopsy was indicated for each sibling for therapeutic decision. Bone histology and histomorphometry, as compared to reference values of children with OI type I as well as, to a control pediatric pa...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Nadja Fratzl-Zelman Agn ès Linglart Kim Bin Frank Rauch St éphane Blouin R égis Coutant Aur élie Donzeau Source Type: research

Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25;66(11):104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in wh...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research

Early Life Management of Osteogenesis Imperfecta
AbstractPurpose of ReviewThis review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the first year of life, focusing on those with severe disease. The authors draw on published literature and direct experience of working in a large paediatric centre specialising in the management of rare bone disease.Recent FindingsWhilst understanding of the pathophysiology of OI has grown over the past decade, the evidence base for management of infants remains limited. There has been a greater recognition of certain subjects of concern including pain management, cervical ...
Source: Current Osteoporosis Reports - September 26, 2023 Category: Orthopaedics Source Type: research

Brittle Bone Imaging: Diagnostic Procedures in Adults
This article concentrates on generalized disorders causing bone fragility. The most frequent cause of brittle bone disease is osteoporosis, only diagnosed by elimination. First, malignant osteopathy must be ruled out: fracture on metastasis or multiple myeloma, which mimics osteoporosis when presenting as diffuse demineralization. Second, patients should be screened for signs of hyperparathyroidism or osteomalacia. Much more rarely, many other pathologies can lead to brittle bone by demineralization or associated increased bone density.The radiologist needs to know the clinical context and notably the patient's age (childh...
Source: Seminars in Musculoskeletal Radiology - September 25, 2023 Category: Radiology Authors: Cyteval, Catherine Szafors, Paulina Pastor, Maxime Tags: Review Article Source Type: research

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%–90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex...
Source: Frontiers in Endocrinology - September 22, 2023 Category: Endocrinology Source Type: research

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients
Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting scoliosis in OI are not well known. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 20, 2023 Category: Internal Medicine Authors: Peikai Chen, Yapeng Zhou, Zhijia Tan, Yunzhi Lin, Daniel Li-Liang Lin, Jingwei Wu, Zeluan Li, Hiu Tung Shek, Jianbin Wu, Yong Hu, Feng Zhu, Danny Chan, Kenneth Man-Chee Cheung and Michael Kai-Tsun To Tags: Research Source Type: research

Dysregulation of Micrornas in Adult Osteogenesis Imperfecta: The Miroi Study
This article is protected by copyright. All rights reserved. (Source: Journal of Bone and Mineral Research)
Source: Journal of Bone and Mineral Research - September 16, 2023 Category: Orthopaedics Authors: Alexandre Mercier ‐Guery, Marjorie Millet, Blandine Merle, Corinne Collet, Flora Bagouet, Olivier Borel, Elisabeth Sornay‐Rendu, Pawel Szulc, Emmanuelle Vignot, Deborah Gensburger, Elisabeth Fontanges, Martine Croset, Roland Chapurlat Tags: Clinical Trial Source Type: research