Results 11 to 20 of about 3,838 (202)

Fibrodysplasia ossificans progressiva [PDF]

Best Practice & Research Clinical Rheumatology, 2008
Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic disorder of HO in humans. Episodic disease flare-ups are precipitated by soft tissue injury, and immobility is cumulative.
Frederick S, Kaplan, Martine, Le Merrer, David L, Glaser, Robert J, Pignolo, Robert E, Goldsby, Joseph A, Kitterman, Jay, Groppe, Eileen M, Shore   +7 more
exaly   +5 more sources

Intermittent and Short-Term Empirical Ruxolitinib Regimen for Steroid-Refractory Flareups of Fibrodysplasia Ossificans Progressiva. [PDF]

Pharmacol Res Perspect
ABSTRACT Fibrodysplasia ossificans progressiva (FOP) is an ultra‐rare genetic disorder with inflammation‐related flare‐ups resulting in catastrophic heterotopic ossification (HO). Janus‐associated kinase (JAK) inhibitors may have had a blocking effect on bone formation in controlling FOP flare‐ups by blocking multiple inflammatory signaling pathways ...
Chen RL, Yang TH, Wang YH, Shaw JJ, Chen LY.   +4 more
europepmc   +2 more sources

Fibrodysplasia Ossificans Progressiva

Neurology India
Abstract: Fibrodysplasia Ossificans Progressiva (FOP), commonly known as Stoneman Syndrome, is an ultra-rare genetic disorder characterized by the progressive ossification of soft tissues, leading to the formation of a secondary skeleton. This paper provides a comprehensive analysis of FOP, examining its epidemiology, pathophysiology, clinical ...
Agrawal U, Tiwari V.
europepmc   +4 more sources

Editorial of Special Issue “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches”

Biomedicines, 2022
The Special Issue on “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches” has published interesting and useful review articles and original experimental articles on fibrodysplasia ossificans ...
Roberto Ravazzolo
doaj   +1 more source

Fibrodysplasia Ossificans Progressiva: A rare case series

Journal of Orthopaedic Reports, 2023
Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals.
Lokesh kumar Sekaran, Nirosha Ponnuraj, Vijayaraja Elangovan, Dheepan Kumar Sakthimohan   +3 more
doaj   +1 more source

Fibrodysplasia Ossificans Progressiva: what have we achieved and where are we now? follow-up to the 2015 Lorentz Workshop [PDF]

, 2021
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and ...
Bocciardi, Renata, Botman, Esmée, Bravenboer, Nathalie, De Cunto, Carmen Laura, de Ruiter, Ruben D., Eekhoff, Elisabeth M. W., Hilderbrandt, Susanne, Hsiao, Edward C., Jaspers, Richard T., Kaplan, Frederick S., Keen, Richard, Knaus, Petra, Koolwijk, Peter, Micha, Dimitra, Morhart, Rolf, Netelenbos, Jan C., Pacifici, Maurizio, Pals, Gerard, Pignolo, Robert J., Ravazzolo, Roberto, Ribeiro Delai, Patricia Longo, Rustemeyer, Thomas, Sanchez Duffhues, Gonzalo, Schoenmaker, Ton, Scott, Christiaan, Shore, Eileen M., Smilde, Bernard J., Stockklausner, Clemens, Ten Dijke, Peter, Triffit, James, Van Egmond, Marjolein, Van Oosterwyck, Hans, Ventura Pujol, Francesc, Vries, Teun J de, Yu, Paul B.   +34 more
core   +5 more sources

Early Recognition of Fibrodysplasia Ossificans Progressiva-Important For the Clinician

Journal of Nepal Medical Association, 2016
Fibrodysplasia ossificans progressiva is a rare disorder of heterotopic ossification. Procedures like biopsy and surgery are known to be aggravating factors in promoting heterotopic ossification Clues to clinical diagnosis may therefore be a great ...
Ankur Singh, Gaurav Pradhan, Chandravati Kumari, Seema Kapoor   +3 more
doaj   +3 more sources

Knowledge and awareness about fibrodysplasia ossificans progressiva among dental students

Journal of Advanced Pharmaceutical Technology & Research, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder which is autosomal dominant distinguished by congenital malformations of large toes and flare ups, etc. It is a disorder of connective tissue, with heterotopic ossifications seen with
L Akshayaa, S Kavitha, V Vishnu Priya, R Gayathri   +3 more
doaj   +1 more source

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Orphanet Journal of Rare Diseases, 2018
Background Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization.
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson   +8 more
doaj   +1 more source

Atypical Presentation and Management of Fibrodysplasia Ossificans Progressiva [PDF]

, 2017
We report a case of an 18-year-old woman, with bilateral acute inflammatory pain on the hip area, during the premenstrual period, and progressive increase in volume and rigidity of both hips. Bilateral exuberant soft tissue calcifications were present on
Arcângelo, J, Grenho, A, Martins, A
core   +1 more source