| Title |
Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients
|
|---|---|
| Published in |
BMC Pediatrics, July 2014
|
| DOI | 10.1186/1471-2431-14-171 |
| Pubmed ID | |
| Authors |
Paul C Johannesma, Ben EEM van den Borne, Johannes JP Gille, Ad F Nagelkerke, JanHein TM van Waesberghe, Marinus A Paul, R Jeroen A van Moorselaar, Fred H Menko, Pieter E Postmus |
| Abstract |
Birt-Hogg-Dube syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age.Case presentations: Two non-related patients with (recurrent) pneumothorax starting at age 14 accompanied by multiple basal lung cysts on thoracic CT underwent FLCN germline mutation analysis. A pathogenic FLCN mutation was found in both patients confirming suspected BHD. The family history was negative for spontaneous pneumothorax in both families. |
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 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Professor | 3 | 15% |
| Student > Postgraduate | 3 | 15% |
| Student > Ph. D. Student | 3 | 15% |
| Student > Master | 2 | 10% |
| Researcher | 2 | 10% |
| Other | 1 | 5% |
| Unknown | 6 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 40% |
| Biochemistry, Genetics and Molecular Biology | 3 | 15% |
| Nursing and Health Professions | 1 | 5% |
| Unknown | 8 | 40% |
Attention Score in Context
This research output has an Altmetric Attention Score of 13. 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 06 February 2015.
All research outputs
#2,366,299
of 22,758,248 outputs
Outputs from BMC Pediatrics
#324
of 2,992 outputs
Outputs of similar age
#25,062
of 227,671 outputs
Outputs of similar age from BMC Pediatrics
#14
of 55 outputs
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We're also able to compare this research output to 55 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.