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.

B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
We describe the clinico-radiological features of these patients to highlight the spectrum of disease associated with the B3GALT6-linkeropathy.PMID:37657630 | DOI:10.1016/j.ejmg.2023.104829 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 1, 2023 Category: Genetics & Stem Cells Authors: Kimberly Christine Coetzer Jost Dieckerhoff Bernd Wollnik Shahida Moosa Source Type: research

Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study
by Yasuhisa Ohata, Taichi Kitaoka, Takeshi Ishimi, Chieko Yamada, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Hirofumi Nakayama, Makoto Fujiwara, Takuo Kubota, Keiichi Ozono Osteogenesis imperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Areal bone mineral density (BMD), evaluated by dual-energy X-ray absorptiometry (DXA), is used to assess bone brittleness. The height-adjusted BMD Z-score (BMDHAZ) is calculated in children and adolescents with OI to reduce the confounding factor of short stature. However, even with the BMDHAZ, severity evaluation in children and adolescents with OI is...
Source: PLoS One - August 29, 2023 Category: Biomedical Science Authors: Yasuhisa Ohata Source Type: research

Neurocranial growth in the OIM mouse model of osteogenesis imperfecta
This study aims to better understand how OI affects the integrated development of the neurocranium and the brain. Juvenile and adult mice with OI (OIM) and unaffected wild type (WT) littermates were imaged using in vivo micro-computed tomography (microCT). Virtual endocast models were used to measure brain volume, and 3D landmarks were collected from the cranium and brain endocasts. Geometric morphometric analyses were used to compare brain shape and integration between the genotypes. OIM mice had increased brain volumes (relative to cranial centroid size) only at the juvenile stage. No significant difference was seen in c...
Source: Anatomical Record - August 28, 2023 Category: Anatomy Authors: Tooba S Husain Jacob C Moore Lila A Huston Courtney A Miller Ashley T Steele Lauren A Gonzales Emma K Handler Jason M Organ Rachel A Menegaz Source Type: research

Dental tissue changes in juvenile and adult mice with osteogenesis imperfecta
Anat Rec (Hoboken). 2023 Aug 28. doi: 10.1002/ar.25306. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI), a disorder of type I collagen, causes skeletal deformities as well as defects in dental tissues, which lead to increased enamel wear and smaller teeth with shorter roots. Mice with OI exhibit similar microstructural dentin changes, including reduced dentin tubule density and dentin cross-sectional area. However, the effects of these mutations on gross dental morphology and dental tissue volumes have never been characterized in the osteogenesis imperfecta murine (OIM) mouse model. Here we compare mineralized d...
Source: Anatomical Record - August 28, 2023 Category: Anatomy Authors: Jacob C Moore Tooba S Husain Lila A Huston Ashley T Steele Jason M Organ Lauren A Gonzales Rachel A Menegaz Emma K Handler Source Type: research

Retracted: Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing
J Immunol Res. 2023 Aug 16;2023:9782082. doi: 10.1155/2023/9782082. eCollection 2023.ABSTRACT[This retracts the article DOI: 10.1155/2022/5068523.].PMID:37621922 | PMC:PMC10447018 | DOI:10.1155/2023/9782082 (Source: Journal of Immunology Research)
Source: Journal of Immunology Research - August 25, 2023 Category: Allergy & Immunology Authors: Journal Of Immunology Research Source Type: research

The experiences of the families with children diagnosed with osteogenesis imperfecta: A Qualiative study in Turkey
This study aims to investigate the lived experience of families with children diagnosed with osteogenesis imperfecta. (Source: Journal of Pediatric Nursing)
Source: Journal of Pediatric Nursing - August 15, 2023 Category: Nursing Authors: Hatice Uzsen, Dilek Zengin, Zumrut Basbakkal Source Type: research

Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana
Discussion focuses on the supportive care needs of caregivers and implications for genetic counselling awareness, advocacy, and training. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - August 15, 2023 Category: Genetics & Stem Cells Source Type: research

Adult human cardiomyocyte mechanics in osteogenesis imperfecta
Am J Physiol Heart Circ Physiol. 2023 Aug 11. doi: 10.1152/ajpheart.00391.2023. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is an extracellular matrix disorder characterized by defects in collagen 1 transport or synthesis, resulting in bone abnormalities. While reduced collagen in OI hearts have been associated with reduced myocardial stiffness and left ventricular remodeling, its impact upon cardiomyocyte (CM) function have not been studied. Here we explore the tissue-level and CM-level properties of a heart from a deceased organ donor with OI Type I. Proteomics and histology confirmed strikingly low expres...
Source: American Journal of Physiology. Heart and Circulatory Physiology - August 11, 2023 Category: Physiology Authors: Benjamin W Lee Matthew A Caporizzo Christina Y Chen Kenneth C Bedi Eliot G Peyster Benjamin L Prosser Kenneth B Margulies Alexia Vite Source Type: research