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Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2011
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)

Mentioned by

news
1 news outlet
twitter
3 tweeters
facebook
1 Facebook page
wikipedia
2 Wikipedia pages
video
1 video uploader

Citations

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191 Dimensions

Readers on

mendeley
256 Mendeley
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Title
Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Published in
Orphanet Journal of Rare Diseases, January 2011
DOI 10.1186/1750-1172-6-80
Pubmed ID
Authors

Robert J Pignolo, Eileen M Shore, Frederick S Kaplan

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. The worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. Children who have FOP appear normal at birth except for congenital malformations of the great toes. During the first decade of life, sporadic episodes of painful soft tissue swellings (flare-ups) occur which are often precipitated by soft tissue injury, intramuscular injections, viral infection, muscular stretching, falls or fatigue. These flare-ups transform skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bone, rendering movement impossible. Patients with atypical forms of FOP have been described. They either present with the classic features of FOP plus one or more atypical features [FOP plus], or present with major variations in one or both of the two classic defining features of FOP [FOP variants]. Classic FOP is caused by a recurrent activating mutation (617G>A; R206H) in the gene ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor. Atypical FOP patients also have heterozygous ACVR1 missense mutations in conserved amino acids. The diagnosis of FOP is made by clinical evaluation. Confirmatory genetic testing is available. Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors, aggressive juvenile fibromatosis, and non-hereditary (acquired) heterotopic ossification. Although most cases of FOP are sporadic (noninherited mutations), a small number of inherited FOP cases show germline transmission in an autosomal dominant pattern. At present, there is no definitive treatment, but a brief 4-day course of high-dose corticosteroids, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue edema seen in the early stages of the disease. Preventative management is based on prophylactic measures against falls, respiratory decline, and viral infections. The median lifespan is approximately 40 years of age. Most patients are wheelchair-bound by the end of the second decade of life and commonly die of complications of thoracic insufficiency syndrome.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 256 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Cyprus 1 <1%
Gambia 1 <1%
Brazil 1 <1%
Unknown 253 99%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 52 20%
Researcher 33 13%
Student > Ph. D. Student 29 11%
Student > Master 26 10%
Student > Doctoral Student 20 8%
Other 44 17%
Unknown 52 20%
Readers by discipline Count As %
Medicine and Dentistry 74 29%
Biochemistry, Genetics and Molecular Biology 31 12%
Agricultural and Biological Sciences 31 12%
Nursing and Health Professions 11 4%
Pharmacology, Toxicology and Pharmaceutical Science 8 3%
Other 36 14%
Unknown 65 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 23 December 2021.
All research outputs
#1,790,032
of 21,392,919 outputs
Outputs from Orphanet Journal of Rare Diseases
#186
of 2,402 outputs
Outputs of similar age
#10,902
of 142,618 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 3 outputs
Altmetric has tracked 21,392,919 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,402 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has done particularly well, scoring higher than 92% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 142,618 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 92% of its contemporaries.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them