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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2015
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  • Good Attention Score compared to outputs of the same age (71st percentile)

Mentioned by

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1 tweeter
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1 Wikipedia page

Citations

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21 Dimensions

Readers on

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39 Mendeley
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Title
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China
Published in
Orphanet Journal of Rare Diseases, January 2015
DOI 10.1186/s13023-014-0220-7
Pubmed ID
Authors

Xihua Li, Lei Zhao, Shuizhen Zhou, Chaoping Hu, Yiyun Shi, Wei Shi, Hui Li, Fang Liu, Bingbing Wu, Yi Wang

Abstract

BackgroundCurrently, there is no cure for Duchenne and Becker muscular dystrophies (DMD/BMD). However, clinical trials with new therapeutic strategies are being conducted or considered. A comprehensive database is critical for patient recruitment and efficacy evaluation. China has the largest population, yet, no comprehensive database for DMD/BMD is available. Our study registered the data of the DMD/BMD patients in East China.MethodsA modified registry form of Remudy (http://www.remudy.jp/) was applied to Chinese DMD/BMD patients through the outpatient clinic at Children¿s Hospital of Fudan University, Shanghai during the period of August 2011 to December 2013. The data included geographic distribution of patients, age at diagnosis, clinical manifestation, genetic analysis and treatment status.Results194 DMD and 35 BMD patients were registered. Most patients lived in East China, namely Jiangsu province, Anhui province, Zhejiang province, Shanghai, Jiangxi province, Fujian province and Shandong province. All individuals aged less than 18 years (age limit to a children¿s hospital). Diagnosis was made for a majority of patients during the age of 3¿4 (16.6%) and 7¿8 (14.8%) years old. Exon deletion was the most frequent genetic mutations (65.5% and 74.3%) followed by point mutations (14.4% and 11.4%), duplications (9.8% and 8.6%) and small insertion/deletion (9.3% and 2.9%) for DMD and BMD, respectively. 82.5% of DMD registrants were ambulatory, and all the BMD registrants were able to walk. 26.3% of DMD registrants have been treated with steroids. Cardiac functions were examined for 46.4% DMD boys and 45.7% BMD boys and respiratory functions were examined for 18.6% DMD boys and 14.3% BMD boys. Four boys with abnormal cardiac function were prescribed for treatment with cardiac medicine. 33.2% of DMD patients are eligible for exon skipping therapy, and among them 9.2% and 4.3% patients are eligible for skipping exon 51 and 53, respectively.ConclusionsThe database is the first linking accurate genetic diagnosis with clinical manifestation and treatment status of dystrophinopathy patients in East China. It provides comprehensive information essential for further patient management, especially for promotion of international cooperation in developing experimental therapies such as exon skipping and read-through of nonsense mutations targeting a subgroup of DMD patient population.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 3%
Unknown 38 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 15%
Student > Master 6 15%
Researcher 5 13%
Other 4 10%
Student > Bachelor 4 10%
Other 10 26%
Unknown 4 10%
Readers by discipline Count As %
Medicine and Dentistry 11 28%
Agricultural and Biological Sciences 6 15%
Biochemistry, Genetics and Molecular Biology 5 13%
Engineering 2 5%
Pharmacology, Toxicology and Pharmaceutical Science 2 5%
Other 7 18%
Unknown 6 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 19 April 2016.
All research outputs
#3,498,854
of 12,786,466 outputs
Outputs from Orphanet Journal of Rare Diseases
#489
of 1,395 outputs
Outputs of similar age
#60,638
of 216,108 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 1 outputs
Altmetric has tracked 12,786,466 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 1,395 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has gotten more attention than average, scoring higher than 63% 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 216,108 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 71% of its contemporaries.
We're also able to compare this research output to 1 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