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Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
A Case of Diffuse Sclerosing Osteomyelitis (DSO) Initially Diagnosed as Bacterial Mandibular Osteomyelitis and Successfully Treated With Bisphosphonate Administration (Ibandronate).
Cureus
December 2024
Department of Oral and Maxillofacial Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, JPN.
Diffuse sclerosing osteomyelitis (DSO) is a non-bacterial disease of the jawbone, characterized by intermittent pain, swelling, and a mixture of osteosclerosis and osteolysis on radiographs. Its etiology remains unclear, and a standard treatment, based on clear diagnostic criteria, has not been established. We present the case of a 48-year-old male patient, who was initially diagnosed with chronic mandibular osteomyelitis due to apical periodontitis in the right lower second premolar, and underwent antimicrobial medication and surgical therapy based on computed tomography (CT), magnetic resonance imaging (MRI), and bone scintigraphy.
View Article and Find Full Text PDFLung transplantation and bone health: A narrative review.
J Heart Lung Transplant
January 2025
Department of Medicine, University Health Network and Sinai Health System, University of Toronto, Toronto, ON, Canada; Toronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada; Joint Department of Medical Imaging, University of Toronto, Toronto, ON, Canada. Electronic address:
Bone health after lung transplantation has not been comprehensively reviewed in over two decades. This narrative review summarizes available literature on bone health in the context of lung transplantation, including epidemiology, presentation and post-operative management. Osteoporosis is reported in approximately 30-50% of lung transplant candidates, largely due to disease-related impact on bone and lifestyle, and corticosteroid-related effects during end-stage lung disease (interstitial lung diseases, chronic obstructive pulmonary disease, and historically cystic fibrosis).
View Article and Find Full Text PDFOsteoporosis in men-East and West: Can the twain meet? A perspective from Asia.
Osteoporos Sarcopenia
December 2024
Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore.
Osteoporosis in men remains a significantly underrecognized condition, with notable differences in bone mineral density (BMD) and fracture risk between Asian and Western populations. Despite 30% of hip fractures globally occurring in men, they are less likely to be diagnosed or treated for osteoporosis, especially in resource-limited settings. Given these disparities, a deeper understanding of osteoporosis epidemiology and treatment efficacy in men is essential, particularly in Asian populations.
View Article and Find Full Text PDFChallenges in managing osteogenesis imperfecta in a resource-limited setting: a case report.
J 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.
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