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Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.

Overview of attention for article published in American Journal of Medical Genetics. Part A, July 2014
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (56th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (61st percentile)

Mentioned by

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2 tweeters

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20 Mendeley
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Title
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.
Published in
American Journal of Medical Genetics. Part A, July 2014
DOI 10.1002/ajmg.a.36668
Pubmed ID
Authors

Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A, Nampoothiri, Sheela, Yesodharan, Dhanya, Sainulabdin, Gazel, Narayanan, Dhanyalakshmi, Padmanabhan, Laxmi, Girisha, Katta Mohan, Cathey, Sara S., De Paepe, Anne, Malfait, Fransiska, Syx, Delfien, Hennekam, Raoul C., Bonafe, Luisa, Unger, Sheila, Superti‐Furga, Andrea, Sheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, Dhanyalakshmi Narayanan, Laxmi Padmanabhan, Katta Mohan Girisha, Sara S. Cathey, Anne De Paepe, Fransiska Malfait, Delfien Syx, Raoul C. Hennekam, Luisa Bonafe, Sheila Unger, Andrea Superti-Furga

Abstract

We report on a series of 514 consecutive diagnoses of skeletal dysplasia made over an 8-year period at a tertiary hospital in Kerala, India. The most common diagnostic groups were dysostosis multiplex group (n = 73) followed by FGFR3 (n = 49) and osteogenesis imperfecta and decreased bone density group (n = 41). Molecular confirmation was obtained in 109 cases. Clinical and radiographic evaluation was obtained in close diagnostic collaboration with expert groups abroad through Internet communication for difficult cases. This has allowed for targeted biochemical and molecular studies leading to the correct identification of rare or novel conditions, which has not only helped affected families by allowing for improved genetic counseling and prenatal diagnosis but also resulted in several scientific contributions. We conclude that (1) the spectrum of genetic bone disease in Kerala, India, is similar to that of other parts of the world, but recessive entities may be more frequent because of widespread consanguinity; (2) prenatal detection of skeletal dysplasias remains relatively rare because of limited access to expert prenatal ultrasound facilities; (3) because of the low accessibility to molecular tests, precise clinical-radiographic phenotyping remains the mainstay of diagnosis and counseling and of gatekeeping to efficient laboratory testing; (4) good phenotyping allows, a significant contribution to the recognition and characterization of novel entities. We suggest that the tight collaboration between a local reference center with dedicated personnel and expert diagnostic networks may be a proficient model to bring current diagnostics to developing countries.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 20 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 25%
Student > Bachelor 4 20%
Unspecified 2 10%
Other 1 5%
Student > Postgraduate 1 5%
Other 3 15%
Unknown 4 20%
Readers by discipline Count As %
Medicine and Dentistry 6 30%
Biochemistry, Genetics and Molecular Biology 3 15%
Unspecified 2 10%
Agricultural and Biological Sciences 2 10%
Arts and Humanities 1 5%
Other 2 10%
Unknown 4 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 22 April 2015.
All research outputs
#3,795,668
of 8,072,166 outputs
Outputs from American Journal of Medical Genetics. Part A
#952
of 2,235 outputs
Outputs of similar age
#81,858
of 201,542 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#22
of 62 outputs
Altmetric has tracked 8,072,166 research outputs across all sources so far. This one has received more attention than most of these and is in the 50th percentile.
So far Altmetric has tracked 2,235 research outputs from this source. They receive a mean Attention Score of 3.1. This one has gotten more attention than average, scoring higher than 50% 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 201,542 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 56% of its contemporaries.
We're also able to compare this research output to 62 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 61% of its contemporaries.