Results 41 to 50 of about 581,861 (308)

[¹⁸F]NaF PET/CT as a Marker for Fibrodysplasia Ossificans Progressiva: From Molecular Mechanisms to Clinical Applications in Bone Disorders

Biomolecules
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic bone disorder characterized by episodic flare-ups in connective tissue, which are frequently followed by the formation of heterotopic ossification.
Jolien Zwama, Neeltje M. Rosenberg, Vincent A. Verheij, Pieter G. H. M. Raijmakers, Maqsood Yaqub, Esmée Botman, Ruben D. de Ruiter, Mark R. Garrelfs, Arend Bökenkamp, Dimitra Micha, Lothar A. Schwarte, Bernd P. Teunissen, Adriaan A. Lammertsma, Ronald Boellaard, Elisabeth M. W. Eekhoff   +14 more
doaj   +1 more source

Paget's disease of bone: A rare case report

Journal of Indian Academy of Oral Medicine and Radiology, 2020
Paget's disease of bone (PDB) is a localized bone remodeling disorder that is chronic, non-inflammatory.. It is also known as “osteodystrophia deformans” as described by Sir James Paget. PDB is the second most common bone disease after osteoporosis. This
Mohsin M Tak, Altaf H Chalkoo, Tauseefa Jan   +2 more
doaj   +1 more source

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of ...
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike   +25 more
doaj   +1 more source

Chordoma. Clinical characteristics, management and prognosis of a case series of 25 patients [PDF]

, 2010
Background: Adequate surgery still remains the only curative treatment of chordoma. Interesting clinical data on advanced disease with molecularly targeted therapies were reported.Methods: We described the clinical outcome of a series of chordoma ...
Virginia Ferraresi, Carmen Nuzzo, Carmine Zoccali, Ferdinando Marandino, Antonello Vidiri, Nicola Salducca, Massimo Zeuli, Diana Giannarelli, Francesco Cognetti, Roberto Biagini, A Jemal, R Chugh, CE Peña, JM Mirra, NL Higinbotham, C Catton, PW Chambers, S Boriani, F Tzortzidis, D Baratti, D Schulz-Ertner, DC Weber, GF Fleming, E Tamborini, S Stacchiotti, H Hof, K Schönegger, ZL Gokaslan, HY Zhang, P Bergh, KL Foweraker, PA Forsyth, BJ Cummings, P Gabriele, GC Feigl, HD Suit, M Austin-Seymour, M Austin-Seymour, G Noël, R Chugh, PG Scimeca, A Azzarelli, PG Casali, PG Casali, PM Weinberger, S Stacchiotti   +45 more
core   +1 more source

Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva

Pharmaceutics
Background/Objectives: Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic bone disorder, leading to progressive immobilization through the formation of bone in muscles, tendons, and ligaments.
Neeltje M. Rosenberg, Lidiia Zhytnik, Lisanne E. Wisse, Esmée Botman, Jennifer L. Lachey, E. Marelise W. Eekhoff, Dimitra Micha   +6 more
doaj   +1 more source

Dripping Wax Bone Disease – Melorheostosis – A Rare Case Scenario

JOURNAL OF ORTHOPAEDIC CASE REPORTS, 2020
Melorheostosis is a rare condition affecting the bones and has only been occasionally reported. We herein report a case of melorheostosis affecting left femur and tibia which was diagnosed based on clinical and radiological features and managed with bisphosphonates.A 28-year-old female patient presented with complaints of pain over left knee and thigh ...
Lokesh, M., Muthumanickam,, Kumar, Sundar Suriya, Gadde, Saikrishna   +3 more
openaire   +2 more sources

Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature

Orphanet Journal of Rare Diseases, 2021
Background Langerhans cell histiocytosis (LCH) is a rare disease that originates from the uncontrolled proliferation and accumulation of bone marrow-derived immature myeloid dendritic cells. Dendritic cells are a type of histiocyte that play an important
Nahid Reisi, Pouran Raeissi, Touraj Harati Khalilabad, Alireza Moafi   +3 more
doaj   +1 more source

New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia

Archives of Endocrinology and Metabolism, 2022
Phosphorus is one of the most abundant minerals in the human body; it is required to maintain bone integrity and mineralization, in addition to other biological processes. Phosphorus is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], and fibroblast growth factor 23 (FGF-23) in a complex set of processes that occur in the gut ...
Julia Vieira Oberger Marques, Carolina Aguiar Moreira, Victoria Zeghbi Cochenski Borba   +2 more
openaire   +4 more sources

Real-world analysis of the underdiagnosis, clinical outcomes and associated burden of hematopoietic stem cell transplantation-associated thrombotic microangiopathy (HSCT-TMA) in the United States

Frontiers in Hematology
BackgroundThrombotic microangiopathy (TMA) associated with hematopoietic stem cell transplantation (HSCT-TMA) is a serious post-transplant complication.
Yan Wang, Andrew Rava, Marlene Smurzynski, Bonny Shah, Anusorn Thanataveerat, Imad Al-Dakkak, Moh-Lim Ong, Christopher C. Dvorak, Vincent T. Ho   +8 more
doaj   +1 more source

Functional bracing for delayed union of a femur fracture associated with Paget's disease of the bone in an Asian patient: a case report

Journal of Orthopaedic Surgery and Research, 2010
Paget's disease of the bone is a common metabolic bone disease in most European countries, Australia, New Zealand, and North America. Conversely, this disease is rare in Scandinavia, Asia, and Africa.
Fukuta Masashi, Matsumoto Kazu, Ohara Akira, Takigami Iori, Shimizu Katsuji   +4 more
doaj   +1 more source