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Birt-Hogg-Dubé syndrome: a large single family cohort

Overview of attention for article published in Respiratory Research, January 2016
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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 (87th percentile)
  • High Attention Score compared to outputs of the same age and source (89th percentile)

Mentioned by

blogs
2 blogs
twitter
2 tweeters
facebook
1 Facebook page

Citations

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23 Dimensions

Readers on

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33 Mendeley
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Title
Birt-Hogg-Dubé syndrome: a large single family cohort
Published in
Respiratory Research, January 2016
DOI 10.1186/s12931-016-0339-2
Pubmed ID
Authors

Kate Skolnik, Willis H. Tsai, Kimberly Dornan, Renée Perrier, Paul W. Burrowes, Warren J. Davidson

Abstract

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and renal tumors. The syndrome arises from germline mutations in the folliculin (FLCN) gene. We present findings from the single largest family BHD cohort described to date. Primary objectives were to characterize cystic lung changes on computed tomography (CT) chest scanning and identify features that stratify patients at higher risk of pneumothorax. Secondary objectives entailed description of the following: type and natural history of BHD-associated pneumothorax, pulmonary function characteristics, and relationship between cystic lung changes and pulmonary function. The study was a retrospective chart review for a case series of a single family. Over 70 family members of a proband with documented BHD were identified, 68 of which consented to genetic testing. All those with confirmed BHD were offered a clinical assessment by the Medical Genetics and Pulmonary services which included a history, physical exam, complete pulmonary function tests, and computed tomography (CT) scan of the chest and abdomen. Thirty-six individuals had a heterozygous mutation in the FLCN gene (c.59delT). Of these, 100 % (28/28) had pulmonary cysts, 41 % (13/32) had spontaneous pneumothoraces, 26 % (8/31) had kidney cysts, 3 % (1/31) had renal tumors, and 53 % (18/34) had dermatologic manifestations. Recurrent pneumothoraces were common (40 %). Cyst size (OR 3.23, 95 % CI 1.35-7.73) and extent of lower lung zone disease (OR 6.43, 95 % CI 1.41-29.2) were the only findings associated with pneumothorax. The size or extent of cystic disease did not correlate with lung function results. This is the largest single family cohort of patients with BHD syndrome documented to date. We found that all individuals had pulmonary cysts, pneumothoraces were common, and cyst size and lower lobe predominant disease were associated with pneumothorax. Lung function was generally preserved and not affected by a high cyst burden.

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 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 3%
India 1 3%
Unknown 31 94%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 4 12%
Student > Ph. D. Student 4 12%
Professor > Associate Professor 3 9%
Student > Bachelor 3 9%
Researcher 3 9%
Other 7 21%
Unknown 9 27%
Readers by discipline Count As %
Medicine and Dentistry 15 45%
Nursing and Health Professions 3 9%
Biochemistry, Genetics and Molecular Biology 3 9%
Agricultural and Biological Sciences 1 3%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 0 0%
Unknown 10 30%

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 10 February 2017.
All research outputs
#1,676,543
of 17,359,532 outputs
Outputs from Respiratory Research
#166
of 2,188 outputs
Outputs of similar age
#33,703
of 271,046 outputs
Outputs of similar age from Respiratory Research
#2
of 19 outputs
Altmetric has tracked 17,359,532 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,188 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. 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 271,046 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.