Results 21 to 30 of about 3,826 (203)

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

Suppression of heterotopic ossification in fibrodysplasia ossificans progressiva using AAV gene delivery

Nature Communications, 2022
Fibrodysplasia ossificans progressiva is an ultra-rare genetic disorder with progressive heterotopic ossification. Yang et al develop different gene therapy approaches and show their efficacy in mouse models and in human induced pluripotent stem cells.
Yeon-Suk Yang, Jung-Min Kim, Jun Xie, Sachin Chaugule, Chujiao Lin, Hong Ma, Edward Hsiao, Jaehyoung Hong, Hyonho Chun, Eileen M. Shore, Frederick S. Kaplan, Guangping Gao, Jae-Hyuck Shim   +12 more
doaj   +1 more source

Fibrodysplasia Ossificans Progressiva: A Case Report

Journal of Nepal Health Research Council, 2018
Fibrodysplasia ossificans progressiva is a genetic disorder of the connective tissue differentiation characterized by congenital malformation of the big toes and progressive heterotopic ossification in the extra skeletal tissues like tendons, ligaments,
Sudeep Acharya, Sandhya Joshi, Rajib Chaulagain   +2 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

A New Class of Small Molecule Inhibitor of BMP Signaling [PDF]

, 2013
Growth factor signaling pathways are tightly regulated by phosphorylation and include many important kinase targets of interest for drug discovery. Small molecule inhibitors of the bone morphogenetic protein (BMP) receptor kinase ALK2 (ACVR1) are needed ...
Bullock, AN, Chaikuad, A, Cuny, GD, Hill, CS, Kerr, G, Mohedas, AH, Ramel, M-C, Reichert, S, Sanvitale, CE, Triffitt, JT, Wang, Y, Yu, PB   +11 more
core   +10 more sources

Fibrodysplasia ossificans progressiva a case report

Acta Orthopaedica et Traumatologica Turcica, 2021
We present a case of fibrodysplasia ossificans progressiva in an 8 year old boy, who was misdiagnosed as having hereditary multiple egsositosis and operated on.
Bulent Aksoy, Cem Zeki Esenyel, Ridvan Yesiltepe, Ayhan Nedim Kara   +3 more
doaj  

Fibrodysplasia Ossificans Progressiva - Radiological Findings: A Case Report

Oman Medical Journal, 2014
Fibrodysplasia ossificans progressiva formerly known as Myositis ossificans progressiva is a rare hereditary mesodermal disorder. It is characterized by congenital skeletal anomalies and progressive ectopic bone formation in connective tissue, resulting ...
Ishaq Al-Salmi, Sameer Raniga, Aymen Al-Hadidi   +2 more
doaj   +1 more source

Bilateral myositis ossificans of the masseter muscle after chemoradiotherapy and critical illness neuropathy- report of a rare entity and review of literature [PDF]

, 2009
: Myositis ossificans (MO) in the head and neck is a rare heterotropic bone formation within a muscle. Besides fibrodysplasia ossificans progressiva, traumatic and neurogenic forms are described in the literature.
Astrid L Kruse, Christine Dannemann, Klaus W Grätz, RL Wiggins, B Saka, MA Shugar, S Patel, S Mahboubi, PB Yu, HJ Aho, LH Visser, E Hund, CF Bolton, H Beck, KS Ben Hamida, H Yano, T Aoki, JR Geist, Y Myoken, GE Lello, R Arima, PI Christmas   +21 more
core   +2 more sources

Fibrodysplasia ossificans progressiva (stone man syndrome): a case report

Journal of Medical Case Reports, 2019
Background Fibrodysplasia ossificans progressiva is an ultrarare autosomal dominant disorder and disabling syndrome characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes ...
Zakir Ali Shah, Sascha Rausch, Uzma Arif, Bilal El Yafawi   +3 more
doaj   +1 more source

Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva. [PDF]

, 1993
Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.
Beluffi G, Martini A., Pazzaglia UE, Ravelli A, Zatti G   +4 more
core   +1 more source