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Hereditary alpha-1-antitrypsin deficiency and its clinical consequences

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2008
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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 (93rd percentile)
  • High Attention Score compared to outputs of the same age and source (93rd percentile)

Mentioned by

blogs
1 blog
twitter
5 tweeters
facebook
10 Facebook pages
wikipedia
1 Wikipedia page
pinterest
1 Pinner

Citations

dimensions_citation
140 Dimensions

Readers on

mendeley
225 Mendeley
citeulike
3 CiteULike
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Title
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences
Published in
Orphanet Journal of Rare Diseases, June 2008
DOI 10.1186/1750-1172-3-16
Pubmed ID
Authors

Laura Fregonese, Jan Stolk

Abstract

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent on the Scandinavian descent within the population. The most common deficiency alleles in North Europe are PI Z and PI S, and the majority of individuals with severe AATD are PI type ZZ. The clinical manifestations may widely vary between patients, ranging from asymptomatic in some to fatal liver or lung disease in others. Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and airflow obstruction early in adult life. Environmental factors such as cigarette smoking, and dust exposure are additional risk factors and have been linked to an accelerated progression of this condition. Type ZZ AATD may also lead to the development of acute or chronic liver disease in childhood or adulthood: prolonged jaundice after birth with conjugated hyperbilirubinemia and abnormal liver enzymes are characteristic clinical signs. Cirrhotic liver failure may occur around age 50. In very rare cases, necrotizing panniculitis and secondary vasculitis may occur. AATD is caused by mutations in the SERPINA1 gene encoding AAT, and is inherited as an autosomal recessive trait. The diagnosis can be established by detection of low serum levels of AAT and isoelectric focusing. Differential diagnoses should exclude bleeding disorders or jaundice, viral infection, hemochromatosis, Wilson's disease and autoimmune hepatitis. For treatment of lung disease, intravenous alpha-1-antitrypsin augmentation therapy, annual flu vaccination and a pneumococcal vaccine every 5 years are recommended. Relief of breathlessness may be obtained with long-acting bronchodilators and inhaled corticosteroids. The end-stage liver and lung disease can be treated by organ transplantation. In AATD patients with cirrhosis, prognosis is generally grave.

Twitter Demographics

The data shown below were collected from the profiles of 5 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 225 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Canada 3 1%
United States 3 1%
Germany 2 <1%
Brazil 1 <1%
Italy 1 <1%
United Kingdom 1 <1%
Norway 1 <1%
Spain 1 <1%
France 1 <1%
Other 1 <1%
Unknown 210 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 40 18%
Student > Ph. D. Student 37 16%
Student > Bachelor 31 14%
Student > Master 26 12%
Student > Doctoral Student 20 9%
Other 49 22%
Unknown 22 10%
Readers by discipline Count As %
Medicine and Dentistry 90 40%
Agricultural and Biological Sciences 48 21%
Biochemistry, Genetics and Molecular Biology 17 8%
Nursing and Health Professions 5 2%
Economics, Econometrics and Finance 5 2%
Other 32 14%
Unknown 28 12%

Attention Score in Context

This research output has an Altmetric Attention Score of 18. 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 18 October 2019.
All research outputs
#1,172,230
of 16,036,161 outputs
Outputs from Orphanet Journal of Rare Diseases
#104
of 1,713 outputs
Outputs of similar age
#17,281
of 254,865 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#7
of 101 outputs
Altmetric has tracked 16,036,161 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,713 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has done particularly well, scoring higher than 93% 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 254,865 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 93% of its contemporaries.
We're also able to compare this research output to 101 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.