A5103255506- Bone Tumor Diagnosis and Treatments
- Bone health and treatments
- Bone Metabolism and Diseases
- Oral and Maxillofacial Pathology
- Histiocytic Disorders and Treatments
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Genetic and rare skin diseases.
- Cancer and Skin Lesions
- Medical Imaging and Pathology Studies
- Bone and Joint Diseases
- Male Breast Health Studies
National Institute of Dental and Craniofacial Research
2020-2024
National Institutes of Health
2020-2024
Eunice Kennedy Shriver National Institute of Child Health and Human Development
2020-2023
Abstract Fibrous dysplasia (FD) is a rare, disabling skeletal disease for which there are no established treatments. Growing evidence supports inhibiting the osteoclastogenic factor receptor activator of nuclear kappa-B ligand (RANKL) as potential treatment strategy. In this study, we investigated mechanisms underlying RANKL inhibition in FD tissue and its likely indirect effects on osteoprogenitors by evaluating human pre- post-treatment phase 2 clinical trial denosumab (NCT03571191) murine...
Abstract Context Denosumab is an effective treatment for many receptor activator of nuclear factor kappa-B ligand (RANKL)-mediated disorders but there are potential safety considerations and limited data to guide its use in children adolescents. Objective This document seeks summarize the evidence provide expert opinion on safe appropriate denosumab pediatric RANKL-mediated disorders. Participants Ten experts bone mineral medicine from 6 countries with experience participated creation this...
ABSTRACT Fibrous dysplasia (FD) is characterized by expansile fibro-osseous lesions that may occur in association with endocrinopathies as part of McCune–Albright syndrome (MAS). Craniofacial FD a significant source morbidity and most commonly involves the gnathic bones. There critical need to understand natural history risk factors for progression develop preventative trials identify candidates intervention. The purpose this study was characterize lesion expansion associated growth....
Abstract We report a case of persistent gynecomastia in healthy 20-year-old man after 1 month low-dose finasteride. Finasteride was discontinued 2 months, and unchanged 5 months drug withdrawal. The regressed but did not resolve 6 treatment with raloxifene, selective estrogen receptor modulator. One year later, bilateral mammoplasty performed to remove the remaining breast tissue. Finasteride, 5-alpha-reductase inhibitor, is widely used for androgenetic alopecia. Gynecomastia an expected...
ABSTRACT Fibrous dysplasia (FD) is a rare mosaic disorder resulting in fractures, pain, and disability. Bone lesions appear during childhood expand skeletal growth. The rate at which FD progress the biochemical determinants of lesion formation have not been established, making it difficult to investigate implement preventative therapies. purpose this study was characterize progression children, identify clinical variables associated with progressive disease. Clinical data imaging from an...
ABSTRACT BACKGROUND Fibrous dysplasia (FD) is a rare, disabling disease with no established treatments. Growing evidence supports inhibiting the pro-osteoclastic factor receptor activator of nuclear Kappa-B ligand (RANKL) as potential treatment strategy. We conducted phase 2 trial evaluating anti-RANKL drug denosumab in adults FD, an emphasis on investigating post-discontinuation bone turnover rebound, and cellular mechanisms underlying effects FD osteoprogenitors. METHODS Eight subjects...
Abstract Context Fibrous dysplasia (FD) results in fractures, pain, and deformities. Abnormal osteoprogenitor cells overproduce FGF23, leading to hyperphosphaturia most patients frank hypophosphatemia a subset. Studies suggest is associated with increased FD-related morbidity. However, the relationship between phosphorus skeletal complications has not been investigated, optimal therapeutic target determined. Objective Characterize impact of serum on morbidity identify levels complications....
Abstract Context Fibrous dysplasia (FD) is a rare skeletal mosaic disease associated with fractures and disability. A phase 2 trial of the RANKL inhibitor denosumab (NCT03571191) reported profound reductions in lesion activity increased lesional mineralization after 6-months high-dose treatment. Denosumab was well-tolerated, however discontinuation severe hypercalcemia. Objective Investigate safety efficacy moderate-dose (120 mg/3 months) compared to standard regimen. Setting Clinical...
Glucocorticoids are standard of care for patients with Duchenne muscular dystrophy (DMD). Although prolonged exposure is associated multiple endocrine side effects, current guidelines related to monitoring and management endocrinopathies suboptimal. We aim explore community perceptions complications in DMD, assess level understanding, desire further education. A 31-item online survey was sent through Parent Project Muscular Dystrophy (PPMD) Registry members be completed by or their...
Abstract Fibrous dysplasia (FD) is a rare, disabling skeletal disease with no established treatments. Growing evidence supports inhibiting the osteoclastogenic factor receptor activator of nuclear Kappa-B ligand (RANKL) as potential treatment strategy. In this study, we investigated mechanisms underlying RANKL neutralization monoclonal antibody denosumab on FD osteoprogenitors, by evaluating human tissue pre- and post-treatment, in murine vivo ex pre-clinical models. Histological analysis...