| Title |
A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype
|
|---|---|
| Published in |
Allergy, Asthma & Clinical Immunology, November 2011
|
| DOI | 10.1186/1710-1492-7-18 |
| Pubmed ID | |
| Authors |
Michael R Ringenbach, Erin Banta, Melissa R Snyder, Timothy J Craig, Faoud T Ishmael |
| Abstract |
Alpha-1-antitrypsin (A1AT) deficiency is a genetic disease characterized by low levels and/or function of A1AT protein. A1AT deficiency can result in the development of COPD, liver disease, and certain skin conditions. The disease can be diagnosed by demonstrating a low level of A1AT protein and genotype screening for S and Z mutations, which are the most common. However, there are many genetic variants in A1AT deficiency, and this screening may miss rarer cases, such as those caused by dysfunctional protein. We identified a patient with a previously unreported F/null phenotype that was missed by routine screening. This case highlights the wide variation in possible mutations, limitations in diagnostics, and the importance of combining clinical suspicion with measurement of protein levels, phenotypic analysis, and in appropriate cases expanded genetic analysis. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 25% |
| Unknown | 3 | 75% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 75% |
| Scientists | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 12% |
| Canada | 1 | 6% |
| Unknown | 14 | 82% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 24% |
| Student > Ph. D. Student | 3 | 18% |
| Student > Master | 3 | 18% |
| Student > Bachelor | 2 | 12% |
| Other | 2 | 12% |
| Other | 2 | 12% |
| Unknown | 1 | 6% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 35% |
| Medicine and Dentistry | 6 | 35% |
| Immunology and Microbiology | 1 | 6% |
| Biochemistry, Genetics and Molecular Biology | 1 | 6% |
| Psychology | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 1 | 6% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 27 April 2012.
All research outputs
#14,914,476
of 25,374,647 outputs
Outputs from Allergy, Asthma & Clinical Immunology
#508
of 924 outputs
Outputs of similar age
#94,886
of 153,767 outputs
Outputs of similar age from Allergy, Asthma & Clinical Immunology
#14
of 24 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 924 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.8. This one is in the 42nd percentile – i.e., 42% of its peers scored the same or lower than it.
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 153,767 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.