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Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism

Overview of attention for article published in International Journal of Chronic Obstructive Pulmonary Disease, May 2015
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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 (80th percentile)
  • High Attention Score compared to outputs of the same age and source (86th percentile)

Mentioned by

twitter
11 tweeters
facebook
1 Facebook page

Citations

dimensions_citation
14 Dimensions

Readers on

mendeley
32 Mendeley
Title
Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism
Published in
International Journal of Chronic Obstructive Pulmonary Disease, May 2015
DOI 10.2147/copd.s80173
Pubmed ID
Authors

Katrin Milger, Lesca Holdt, Daniel Teupser, Rudolf Huber, Juergen Behr, Nikolaus Kneidinger

Abstract

Deficiency in the serine protease inhibitor, alpha-1 antitrypsin (AAT), is known to cause emphysema and liver disease. Other manifestations, including airway disease or skin disorders, have also been described. A 44-year-old woman presented to our emergency department with dyspnea and respiratory insufficiency. She had never smoked, and had been diagnosed with COPD 9 years earlier. Three months previously, she had suffered a pulmonary embolism. Chest computed tomography scan revealed severe cystic bronchiectasis with destruction of the lung parenchyma. The sweat test was normal and there was no evidence of the cystic fibrosis transmembrane conductance regulator (CFTR) mutation. Capillary zone electrophoresis showed a decrease of alpha-1 globin band and AAT levels were below the quantification limit (<25 mg/dL). No S or Z mutation was identified, but sequencing analysis found a homozygous cytosine and adenine (CA) insertion in exon 2 of the SERPINA-1 gene, probably leading to a dysfunctional protein (PI Null/Null). This mutation has not been previously identified. The atypical presentation of the patient, with severe cystic bronchiectasis, highlights AAT deficiency as a differential diagnosis in bronchiectasis. Further, awareness should be raised regarding a possible increased risk of thromboembolism associated with AAT deficiency.

Twitter Demographics

The data shown below were collected from the profiles of 11 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 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Canada 1 3%
Unknown 31 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 9 28%
Student > Bachelor 5 16%
Other 4 13%
Researcher 4 13%
Student > Doctoral Student 2 6%
Other 6 19%
Unknown 2 6%
Readers by discipline Count As %
Medicine and Dentistry 17 53%
Biochemistry, Genetics and Molecular Biology 4 13%
Agricultural and Biological Sciences 3 9%
Nursing and Health Professions 1 3%
Computer Science 1 3%
Other 2 6%
Unknown 4 13%

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 14 June 2015.
All research outputs
#3,345,782
of 18,956,214 outputs
Outputs from International Journal of Chronic Obstructive Pulmonary Disease
#407
of 2,085 outputs
Outputs of similar age
#47,376
of 244,874 outputs
Outputs of similar age from International Journal of Chronic Obstructive Pulmonary Disease
#7
of 46 outputs
Altmetric has tracked 18,956,214 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,085 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.9. This one has done well, scoring higher than 80% 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 244,874 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 80% of its contemporaries.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 86% of its contemporaries.