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.

Dominant negative variants in < i > KIF5B < /i > cause osteogenesis imperfecta via down regulation of mTOR signaling
ConclusionWe report dominant negative variants in theKIF5B kinesin motor domain in individuals with osteogenesis imperfecta. This study expands the spectrum of kinesin-related disorders and identifies dysregulated signaling targets forKIF5B in skeletal development. (Source: PLoS Genetics)
Source: PLoS Genetics - November 7, 2023 Category: Genetics & Stem Cells Authors: Ronit Marom Source Type: research

Acalvaria: the first case report from Nepal
CONCLUSION: Acalvaria is known to have a dismal prognosis and all the living cases with long-term follow-up are mentally retarded and physically disabled. Early and reliable antenatal diagnosis can reduce the economic, physical, and psychological burden associated with this fatal disease, especially in low-income countries.PMID:37915700 | PMC:PMC10617930 | DOI:10.1097/MS9.0000000000001339 (Source: Annals of Medicine)
Source: Annals of Medicine - November 2, 2023 Category: Internal Medicine Authors: Kusha K C Abal Baral Source Type: research

Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta
ConclusionThis study revealed that the c.1309G>A (p. Gly437Ser) variant in the COL1A1 gene may be the genetic cause of fetal OI in this case. The discovery of this variant enriched the variation spectrum of OI. WES improves the accurate diagnosis of fetal OI, and doctors can provide patients with appropriate genetic counseling. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - November 2, 2023 Category: Endocrinology Source Type: research

Left Main Spontaneous Coronary Artery Dissection in a Patient With Osteogenesis Imperfecta: Use of Multimodal Imaging
A 49-year-old female with a history of osteogenesis imperfecta (OI) and active smoking presented to a rural hospital with chest pain. Electrocardiogram demonstrated 1 mm ST-elevation in aVR and 2 mm ST-depression in V2 –5. Posterior leads showed 1 mm ST-elevation in V7–9. She was thrombolysed with Tenecteplase and transferred to a tertiary centre. Coronary angiogram was performed within 24 hours. A non-selective image was performed to assess the left main coronary artery (LMCA) given the ECG changes. (Source: Heart, Lung and Circulation)
Source: Heart, Lung and Circulation - October 31, 2023 Category: Cardiology Authors: Jessica V. Yao, Harsh V. Thakkar, Anverali Sethwala, Stacey Peters, Ingrid Winship Tags: Image Source Type: research

Eat, breathe, sleep with Osteogenesis Imperfecta
Although Osteogenesis Imperfecta (OI) affects the connective tissue causing brittle bones with consequent skeletal deformities, it is important to go beyond bones, as OI might also affect other important functions. We have implemented a multidisciplinary study to assess lung function, breathing pattern, sleep quality and nutritional status in 27 adults OI type III and IV patients (median age: 34.6 years; 19 women; 14 type III). According to nocturnal oxygen desaturation, two groups were identified: 13 patients with (OI_OSA, incidence: 48.2%) and 14 without (no_OSA) obstructive sleep apnea. The former was characterized by h...
Source: European Respiratory Journal - October 27, 2023 Category: Respiratory Medicine Authors: LoMauro, A., Landoni, V., Fraschini, P., Molteni, F., Aliverti, A., Bertoli, S., De Amicis, R. Tags: Clinical and epidemiological respiratory sleep medicine Source Type: research

Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities
Conclusion Both lung intrinsic and extrinsic skeletal abnormalities contribute to OI pulmonary dysfunction. Most young adult patients have restrictive disease and abnormal gas exchange; impairment is greater in type III than type IV OI. Decreased FEF25%–75% and thickening of small bronchi walls indicate a critical role for small airways. Lung parenchymal abnormalities (atelectasis, reticulations) and pleural thickening were also detected. Clinical interventions to mitigate these impairments are warranted. Trial registration number NCT03575221. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 24, 2023 Category: Genetics & Stem Cells Authors: Gochuico, B. R., Hossain, M., Talvacchio, S. K., Zuo, M. X. G., Barton, M., Dang Do, A. N., Marini, J. C. Tags: Genotype-phenotype correlations Source Type: research

A case-control study of early-stage radiological markers of endothelial dysfunction and cardiovascular findings in patients with osteogenesis imperfecta: genotype-phenotype correlations
CONCLUSIONS: Pediatric patients with OI without clinical signs of cardiovascular abnormality had significantly worse CIMT and FMD findings than healthy controls. However, no difference was determined when comparing left ventricular ejection fraction or fractional shortening. OI patients may need to be screened for cardiovascular system complications starting from an early age.PMID:37859607 | DOI:10.1515/jpem-2023-0215 (Source: Atherosclerosis)
Source: Atherosclerosis - October 20, 2023 Category: Cardiology Authors: Ferda Evin Derya Ayd ın Ert ürk Levent Samim Özen Şükran Darcan Damla G ökşen Source Type: research

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes
In this study, we present the results of next-generation sequencing (NGS) analysis using a custom panel of 11 genes known to be associated with OI. This clinical study enrolled a total of 10 patients, comprising 7 male and 3 female patients from 7 families, all from the Puglia Region in South Italy, providing a detailed overview of their age, gender, family history, OI type, and non-skeletal features.ResultsThe genetic analysis revealed 5 PVs in the COL1A1 gene and 2 PVs in the COL1A2 gene. Importantly, three of these PVs have not been previously reported in the literature. These include two novel heterozygous frameshift P...
Source: Frontiers in Endocrinology - October 20, 2023 Category: Endocrinology Source Type: research

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
We report on four patients (three adults and one adolescent) with a severe deforming form of OI. All patients presented no abnormalities at birth, frequent long bone and vertebrae fractures (mainly during childhood), marked short stature, severe bone deformities, chronic mild to moderate pain, and severe limitation of mobility, with three being completely wheelchair bound. Blue sclera and dentinogenesis imperfecta were absent, although some patients presented tooth, ophthalmological, and/or cardiac features. Radiographic findings included, among others, thin diaphysis and popcorn calcifications, both of which are non-speci...
Source: European Journal of Medical Genetics - October 15, 2023 Category: Genetics & Stem Cells Authors: Andr é M Travessa Patr ícia Dias Joana Rosmaninho-Salgado Miriam Aza-Carmona Oana Moldovan Francisca D íaz-González F átima Godinho Jos é Carlos Romeu Filipa Oliveira-Ramos Maria do C éu Barreiros S érgio B Sousa Karen E Heath Ana Berta Sousa Source Type: research