Results 1 to 10 of about 581,861 (308)

The Rare Bone Disease TeleECHO Program: Leveraging Telehealth to Improve Rare Bone Disease Care. [PDF]

Curr Osteoporos Rep, 2020
Abstract Purpose of Review Rare bone diseases constitute ~ 5% of all known rare diseases and can require complex, multidisciplinary care. Advancing access to current medical knowledge is an important strategy for improving care for rare bone diseases throughout the world.
Tosi LL, Rajah EN, Stewart MH, Gillies AP, Hart TS, Lewiecki EM.   +5 more
europepmc   +4 more sources

Gorham-Stout disease: A rare bone disorder

Journal of Orthopaedic Reports, 2022
Background: Gorham-Stout disease (GSD) is a rare disorder characterised by spontaneous and progressive bone resorption. It is a benign, generally self-limited disease; the evolution is unpredictable, with severe complications.
Francesco Bosco, Fortunato Giustra, Carlotta Faccenda, Michele Boffano, Nicola Ratto, Raimondo Piana   +5 more
doaj   +2 more sources

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP [PDF]

JIMD Reports
Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue.
Denise Devore, Juan Ruanova, Walter Voegtli, Derek Dunn, John Decker, Maurizio Mazzantini, Vincenzo De Tata, Maria Concetta Scavuzzo, Francesco Conti, Anna Petryk, Maria Luisa Brandi   +10 more
doaj   +2 more sources

Vanishing bone disease (Gorham′s disease) - A rare occurrence of unknown etiology

Indian Journal of Pathology and Microbiology, 2012
A 20-year-old male patient presented with painful swelling around left elbow joint. Radiographic examination revealed osteolytic lesion with pathological fracture of lower end of humerus and upper radius.
Sumit Ray, Subhalakshmi Mukhopadhyay, Ranjana Bandyopadhyay, Swapan K Sinha   +3 more
doaj   +3 more sources

Editorial: Innovative Therapies in Bone Biology: What Can Be Learned From Rare Bone Diseases?

Frontiers in Endocrinology, 2022
Elisabeth M. W. Eekhoff, Teun J. de Vries, Ralph J. B. Sakkers, Wim Van Hul   +3 more
doaj   +7 more sources

Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

Frontiers in Endocrinology, 2022
Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and collagen-related proteins. Bone fragility is the most common patient issue, but extraskeletal complications also present an adverse ...
Silvia Storoni, Sanne Treurniet, Alessandra Maugeri, Gerard Pals, Joost G. van den Aardweg, Stéphanie L. van der Pas, Mariet W. Elting, Peter Kloen, Dimitra Micha, Elisabeth Marelise W. Eekhoff   +9 more
doaj   +1 more source

Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique

Frontiers in Medicine, 2023
IntroductionRespiratory insufficiency is a leading cause of death in individuals with osteogenesis imperfecta (OI). However, evaluating pulmonary function in OI presents challenges.
Silvia Storoni, Silvia Storoni, Sara J. E. Verdonk, Sara J. E. Verdonk, Dimitra Micha, Dimitra Micha, Patrick M. C. Jak, Marianna Bugiani, Elisabeth M. W. Eekhoff, Elisabeth M. W. Eekhoff, Joost G. van den Aardweg   +10 more
doaj   +1 more source

Marble Bone Disease: A Rare Bone Disorder [PDF]

Cureus, 2015
Osteopetrosis, or marble bone disease, is a rare skeletal disorder due to a defective function of the osteoclasts. This defect renders bones more susceptible to osteomyelitis due to decreased vascularity. This disorder is inherited as autosomal dominant and autosomal recessive.
Arumugam, Eswaran, Harinathbabu, Maheswari, Thillaigovindan, Ranjani, Prabhu, Geetha   +3 more
openaire   +2 more sources

The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces

Diagnostics, 2022
Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene.
Izabela Michałus, Aneta Gawlik, Katarzyna Wieczorek-Szukała, Andrzej Lewiński   +3 more
doaj   +1 more source

Modeling Rare Bone Diseases in Animals [PDF]

Current Osteoporosis Reports, 2018
The goal of this review is to highlight some of the considerations involved in creating animal models to study rare bone diseases and then to compare and contrast approaches to creating such models, focusing on the advantages and novel opportunities offered by the CRISPR-Cas system.Gene editing after creation of double-stranded breaks in chromosomal ...
Charles A, O'Brien, Roy, Morello
openaire   +2 more sources