| Title |
Early acute pancreatitis in a child with compound heterozygosis ∆F508/R1438W/Y1032C cystic fibrosis: a case report
|
|---|---|
| Published in |
Journal of Medical Case Reports, July 2013
|
| DOI | 10.1186/1752-1947-7-188 |
| Pubmed ID | |
| Authors |
Salvatore Leonardi, Andrea Domenico Praticò, Novella Rotolo, Giovanna Di Dio, Elena Lionetti, Mario La Rosa |
| Abstract |
Recent studies suggest an important role of the cystic fibrosis transmembrane conductance regulator gene in the development of pancreatitis. It occurs approximately in 20% of patients with cystic fibrosis and almost exclusively in pancreatic sufficient people. Newborn screening and improved panels of deoxyribonucleic acid mutation analysis techniques are revealing more rare and nonclassical pictures of the disease, generally associated with pancreatic sufficiency and with an increased risk of developing pancreatitis. Mutations R1438 and Y1032 are considered rare mutations, and, when singularly associated with ∆F508, lead to a mild phenotype with pancreatic sufficiency and no detectable respiratory involvement. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 19 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 4 | 21% |
| Librarian | 2 | 11% |
| Student > Bachelor | 2 | 11% |
| Student > Ph. D. Student | 2 | 11% |
| Researcher | 2 | 11% |
| Other | 1 | 5% |
| Unknown | 6 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 32% |
| Biochemistry, Genetics and Molecular Biology | 3 | 16% |
| Agricultural and Biological Sciences | 3 | 16% |
| Immunology and Microbiology | 1 | 5% |
| Nursing and Health Professions | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 5 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 26 July 2013.
All research outputs
#20,196,821
of 22,715,151 outputs
Outputs from Journal of Medical Case Reports
#3,462
of 3,893 outputs
Outputs of similar age
#173,990
of 197,947 outputs
Outputs of similar age from Journal of Medical Case Reports
#29
of 31 outputs
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