| Title |
Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
|
|---|---|
| Published in |
Journal of Medical Case Reports, April 2010
|
| DOI | 10.1186/1752-1947-4-108 |
| Pubmed ID | |
| Authors |
Mbarka Bchetnia, Ahlem Merdassi, Cherine Charfeddine, Fatma Mgaieth, Selma Kassar, Farah Ouechtati, Ibtissem Chouchene, Hamouda Boussen, Mourad Mokni, Amel Dhahri-Ben Osman, Med Samir Boubaker, Sonia Abdelhak, Leila Elmatri |
| Abstract |
Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the ARS (component B) gene (ARS, MIM: 606119) on chromosome 8q24.3 have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere with sharp imaging of the retina. Mutations in the heat-shock transcription factor 4 gene (HSF4; MIM: 602438) may result in both autosomal dominant and autosomal recessive congenital cataracts. |
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 % |
|---|---|---|
| Ecuador | 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 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Peru | 1 | 6% |
| Tunisia | 1 | 6% |
| Unknown | 15 | 88% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 29% |
| Researcher | 3 | 18% |
| Student > Doctoral Student | 2 | 12% |
| Student > Postgraduate | 2 | 12% |
| Professor > Associate Professor | 2 | 12% |
| Other | 3 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 59% |
| Biochemistry, Genetics and Molecular Biology | 4 | 24% |
| Agricultural and Biological Sciences | 3 | 18% |
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 18 February 2013.
All research outputs
#15,263,666
of 22,696,971 outputs
Outputs from Journal of Medical Case Reports
#1,497
of 3,886 outputs
Outputs of similar age
#77,322
of 94,986 outputs
Outputs of similar age from Journal of Medical Case Reports
#12
of 19 outputs
Altmetric has tracked 22,696,971 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,886 research outputs from this source. They receive a mean Attention Score of 3.9. This one has gotten more attention than average, scoring higher than 51% 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 94,986 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 10th percentile – i.e., 10% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one is in the 21st percentile – i.e., 21% of its contemporaries scored the same or lower than it.