The case of a patient with Osteogenesis imperfecta is reported who underwent surgery for mitral valve replacement. Osteogenesis imperfecta is a hereditary disease of the connective tissue, associated with bone fragility, bluish colouring of the sclerae, loss of hearing and dental anomalies. Osteogenesis imperfecta is included in a group of hereditary pathologies with Ehlers-Danlos syndrome, Hurler syndrome, pseudoxanthoma elasticum and Marfan syndrome. In the literature there are few cases of patients with osteogenesis imperfecta operated for mitral valve disease secondary to such disease. The patient also has a positive family history and a severe anaemia: this was treated with epoetin-alpha and ferrous sulphate during the three weeks before surgery. The response to epoietin treatment was good while clinical outcome was poor due to rupture of the posterior ventricular wall in the 12th postoperative hour. The use of epoietin-alpha is discussed.
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J Bone Miner Res
January 2025
Research Centre, Shriners Hospital for Children-Canada, Montreal, Canada.
Timelapse imaging using high-resolution peripheral quantitative computed tomography (HR-pQCT) has emerged as a noninvasive method to quantify bone (re)modelling. However, there is no consensus on how to perform the procedure. As part of the ASTEROID phase-2b multicenter trial, we used 29 same-day repeated scans from adults with osteogenesis imperfecta (OI) to identify a method that minimized measurement error.
View Article and Find Full Text PDFFEBS J
January 2025
Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Italy.
The trimeric intracellular cation channel B (TRIC-B), encoded by TMEM38B, is a potassium (K) channel present in the endoplasmic reticulum membrane, where it counterbalances calcium (Ca) exit. Lack of TRIC-B activity causes a recessive form of the skeletal disease osteogenesis imperfecta (OI), namely OI type XIV, characterized by impaired intracellular Ca flux and defects in osteoblast (OB) differentiation and activity. Taking advantage of the OB-specific Tmem38b knockout mouse (Runx2Cre;Tmem38b; cKO), we investigated how the ion imbalance affects the osteogenetic process.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Lacor Hospital-Gulu, Gulu, Uganda.
Introduction: Osteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. The majority of osteogenesis imperfecta cases are inherited in an autosomal dominant pattern, and 17 genetic causes have been identified. Diagnosis is usually based on clinical presentation and low bone mineral density scores, while treatment involves a multidisciplinary approach using medical therapies such as bisphosphonates, vitamin C, and pamidronate.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Via Taramelli 3B, 27100, Pavia, Italy.
Perfluorinated compounds (PFAS) are well recognized toxic pollutants for humans, but if their effect is equally harmful for healthy and fragile people is unknown. Addressing this question represents a need for ensuring global health and wellbeing to all individuals in a world facing the progressive increase of aging and aging related diseases. This study aimed to evaluate the impact of perfluorooctane sulfonate (PFOS), perfluorooctanoic acid (PFOA) and perfluorohexanoic acid (PFHxA) exposure on development and skeletal phenotype using the osteogenesis imperfecta (OI) zebrafish model Chihuahua (Chi/+), carrying a dominant glycine substitution in the α1 chain of collagen I and their wild-type (WT) littermates.
View Article and Find Full Text PDFJBMR Plus
February 2025
INSERM UMR 1033, Univ Lyon, Université Claude Bernard Lyon 1, F-69008 Lyon, France.
OI, or bone brittle disease, is characterized by increased mineralization of bone matrix independently of clinical severity. So, a beneficial effect of antiresorptive treatments such as bisphosphonates (BP) is questionable. We aim to compare the bone matrix characteristics before and after BP pamidronate (PAM).
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