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Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.
JBJS Case Connect
July 2024
Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India.
Case: We report a 15-year-old adolescent boy being followed up for 6 years with osteogenesis imperfecta (OI). Genetic testing of this child revealed a novel missense variant c.925C>T p.
View Article and Find Full Text PDFFatality owing to pulmonary hemorrhage following pamidronate disodium administration in a neonate with osteogenesis imperfecta type 2: A case report.
Clin Pediatr Endocrinol
February 2024
Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan.
We report the case of a patient with osteogenesis imperfecta (OI) who developed pulmonary hemorrhage 4 d after pamidronate disodium (PA) administration, despite a relatively stable respiratory status. Bisphosphonates are introduced to reduce osteoclast activity and are now widely used in patients with OI. Bisphosphonates are typically well-tolerated in children, and the standard of care involves cyclic intravenous administration of PA.
View Article and Find Full Text PDFCyclic intravenous pamidronate for an infant with osteogenesis imperfecta type II.
BMJ Case Rep
May 2023
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
A woman in her 30s underwent a 17-week ultrasound which revealed short bowed long bones. Fetal CT at 28 weeks' gestation showed decreased ossification of the skull, a small bell-shaped thorax, hypoplastic vertebrae, and shortening and bowing of the long bones, leading to the diagnosis of osteogenesis imperfecta (OI) type II. The newborn was delivered via caesarean delivery, and tracheal intubation was performed due to the respiratory distress.
View Article and Find Full Text PDFEffect of cyclic pamidronate administration on osteoporosis in children with β-thalassemia major: a single-center study.
Clin Exp Pediatr
August 2022
Pediatrics Department, Faculty of Medicine, Menoufia University, Menoufia, Egypt.
Article Synopsis
- Osteopenia and osteoporosis are significant health issues for children with thalassemia, caused by a mix of factors like hormonal imbalances and direct iron toxicity.
- This study evaluated the impact of pamidronate on osteoporosis in children with β-thalassemia major, comparing treatment with calcium and vitamin D alone versus a combination with pamidronate.
- Results showed that pamidronate significantly improved bone mineral density (BMD) and z-scores in patients, demonstrating its effectiveness and safety for treating osteoporosis in these children.
Pamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Individuals with Osteogenesis Imperfecta.
Calcif Tissue Int
March 2022
Oral Care Center for Inherited Diseases, University of Brasília, Brasília, DF, Brazil.
Patients with Osteogenesis Imperfecta (OI) present extra-skeletal manifestations, including important orodental and craniofacial features as dentinogenesis imperfecta, dental agenesis, failure of maxilla growth and hypotonia of masticatory muscles. These features may compromise vital functions speech and mastication. Studies have demonstrated that cyclic pamidronate infusion, the standard therapy for patients with moderate to severe OI, influences the histomorphometric pattern of different body bones.
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