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.

Identification of a family with van der Hoeve ’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs
In this study, we identified a novel frameshift mutation of theCOL1A1 gene (c.1607delG) in a family with OI using whole-exome sequencing, bioinformatics analysis and Sanger sequencing. This mutation may lead to the deletion of a portion of exon 23 and the generation of a premature stop codon in theCOL1A1 gene. To further investigate the impact of this mutation, we established two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of OI patients carrying a novel mutation in theCOL1A1 gene. Osteoblasts (OB) derived from OI-iPSCs exhibited reduced production of type I collagen and diminished ab...
Source: Human Cell - February 20, 2024 Category: Cytology Source Type: research

Imaging in osteogenesis imperfecta: Where we are and where we are going
Eur J Med Genet. 2024 Feb 16:104926. doi: 10.1016/j.ejmg.2024.104926. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and susceptibility to fractures, bone deformity, and diminished growth, along with a plethora of associated secondary features (both skeletal and extraskeletal). The diagnosis of OI is currently made on clinical grounds and may be confirmed by genetic testing. However, imaging remains pivotal in the evaluation of this disease. The aim of this article is...
Source: European Journal of Medical Genetics - February 18, 2024 Category: Genetics & Stem Cells Authors: Silvia Gazzotti Rebecca Sassi Maria Pilar Aparisi G ómez Alice Moroni Evelise Brizola Marco Miceli Alberto Bazzocchi Source Type: research

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported. This paper describes the diverse mani... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 12, 2024 Category: Internal Medicine Authors: Koert Gooijer, Gabri ëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus and Anton Franken Tags: Research Source Type: research

Preclinical rodent models for human bone disease including a focus on cortical bone
We describe here how trabecular and cortical bone structure develop, are maintained, and degenerate with ageing in mice, rats, and humans, and how cortical bone structure is changed in preclinical models of endocrine conditions (e.g., postmenopausal osteoporosis, chronic kidney disease, hyperparathyroidism, diabetes). We provide examples of preclinical models used to identify and test current therapies for osteoporosis, and discuss common concerns raised when comparing rodent preclinical models to the human skeleton. We focus especially on cortical bone, because it differs between small and larger mammals in its organizati...
Source: Endocrine Reviews - February 5, 2024 Category: Endocrinology Authors: Natalie Yy Koh Justyna J Miszkiewicz Mary Louise Fac Natalie Ky Wee Natalie A Sims Source Type: research

Preclinical rodent models for human bone disease including a focus on cortical bone
We describe here how trabecular and cortical bone structure develop, are maintained, and degenerate with ageing in mice, rats, and humans, and how cortical bone structure is changed in preclinical models of endocrine conditions (e.g., postmenopausal osteoporosis, chronic kidney disease, hyperparathyroidism, diabetes). We provide examples of preclinical models used to identify and test current therapies for osteoporosis, and discuss common concerns raised when comparing rodent preclinical models to the human skeleton. We focus especially on cortical bone, because it differs between small and larger mammals in its organizati...
Source: ENDOCR REV - February 5, 2024 Category: Endocrinology Authors: Natalie Yy Koh Justyna J Miszkiewicz Mary Louise Fac Natalie Ky Wee Natalie A Sims Source Type: research

Characteristics of femoral neck fractures in osteogenesis imperfecta: Series of four-teen consecutive hips in twelve patients
While long bone fractures are commonly seen in individuals with osteogenesis imperfecta (OI), femoral neck fractures are exceedingly rare. there is a lack of comprehensive data regarding the etiology of femoral neck fractures (FNF), their characteristics, and the treatment protocols. Our aim was to determine the characteristics of femoral neck fractures in children with OI. (Source: Injury)
Source: Injury - January 29, 2024 Category: Orthopaedics Authors: Arman Vahabi, H üseyin Kaya, Zeynep Çağıran, Murat Celal Sözbilen, Cengizhan Kurt, Hüseyin Günay Source Type: research

Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study
AbstractOsteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures, short stature, dental abnormalities, hearing loss, scoliosis, and chronic pain. Despite a growing literature on the functional outcomes of OI, limited research has explicitly examined the psychosocial outcomes of pain within OI. Adults with OI (N = 15) were interviewed to understand pain-related experiences through a thematic analysis of semi-structured interview data. Research team members, genetic research experts, and OI clinicians developed an interview guide focused on topics related to pain and mental health...
Source: Journal of Clinical Psychology in Medical Settings - January 28, 2024 Category: Psychiatry & Psychology Source Type: research

Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature
AbstractOsteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted th...
Source: Calcified Tissue International - January 19, 2024 Category: Orthopaedics Source Type: research

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients
ConclusionThis study supports the definition of a clear picture of the heterogeneous clinical manifestations leading to variable severity in terms of skeletal and extra-skeletal traits and of the genetic background of an Italian population of osteogenesis imperfecta patients. In this perspective, this clearly highlights the crucial role of standardized and structured collection of high-quality data in disease registries particularly in rare disease scenarios, helping clinicians in disease monitoring and follow-up to improve clinical practice. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - January 11, 2024 Category: Endocrinology Source Type: research

Τhe story of sclerostin inhibition: the past, the present, and the future
Hormones (Athens). 2024 Jan 3. doi: 10.1007/s42000-023-00521-y. Online ahead of print.ABSTRACTSclerostin inhibits osteoblast activity by hampering activation of the canonical Wnt signaling pathway and simultaneously stimulates osteoclastogenesis through upregulation of the receptor activator of NFκB ligand (RANKL). Thus, antibodies against sclerostin (Scl-Abs), besides promoting bone formation, suppress bone resorption and dissociate bone formation from resorption. This dual action results in remarkable increases of bone mineral density which are of a greater magnitude compared to the other antiosteoporotic treatments and...
Source: Hormones - January 3, 2024 Category: Endocrinology Authors: Athanasios D Anastasilakis Elena Tsourdi Source Type: research