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First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse

Overview of attention for article published in BMC Veterinary Research, March 2015
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Title
First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse
Published in
BMC Veterinary Research, March 2015
DOI 10.1186/s12917-015-0374-0
Pubmed ID
Authors

Katia Cappelli, Chiara Brachelente, Fabrizio Passamonti, Alessandro Flati, Maurizio Silvestrelli, Stefano Capomaccio

Abstract

Epitheliogenesis imperfecta in horses was first recognized at the beginning of the 20th century when it was proposed that the disease could have a genetic cause and an autosomal recessive inheritance pattern. Electron microscopy studies confirmed that the lesions were characterized by a defect in the lamina propria and the disease was therefore reclassified as epidermolysis bullosa. Molecular studies targeted two mutations affecting genes involved in dermal-epidermal junction: an insertion in LAMC2 in Belgians and other draft breeds and one large deletion in LAMA3 in American Saddlebred. A mechanobullous disease was suspected in a newborn, Italian draft horse foal, which presented with multifocal to coalescing erosions and ulceration on the distal extremities. Histological examination of skin biopsies revealed a subepidermal cleft formation and transmission electron microscopy demonstrated that the lamina densa of the basement membrane remained attached to the dermis. According to clinical, histological and ultrastructural findings, a diagnosis of junctional epidermolysis bullosa (JEB) was made. Genetic tests confirmed the presence of 1368insC in LAMC2 in the foal and its relatives. This is the first report of JEB in Italy. The disease was characterized by typical macroscopic, histologic and ultrastructural findings. Genetic tests confirmed the presence of the 1368insC in LAMC2 in this case: further investigations are required to assess if the mutation could be present at a low frequency in the Italian draft horse population. Atypical breeding practices are responsible in this case and played a role as odds enhancer for unfavourable alleles. Identification of carriers is fundamental in order to prevent economic loss for the horse industry.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Honduras 1 4%
Unknown 25 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 23%
Student > Bachelor 3 12%
Other 2 8%
Student > Doctoral Student 2 8%
Student > Ph. D. Student 2 8%
Other 3 12%
Unknown 8 31%
Readers by discipline Count As %
Agricultural and Biological Sciences 8 31%
Veterinary Science and Veterinary Medicine 5 19%
Biochemistry, Genetics and Molecular Biology 2 8%
Medicine and Dentistry 2 8%
Chemistry 1 4%
Other 0 0%
Unknown 8 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 10 April 2015.
All research outputs
#14,807,732
of 22,799,071 outputs
Outputs from BMC Veterinary Research
#1,246
of 3,050 outputs
Outputs of similar age
#145,181
of 258,970 outputs
Outputs of similar age from BMC Veterinary Research
#18
of 45 outputs
Altmetric has tracked 22,799,071 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,050 research outputs from this source. They receive a mean Attention Score of 3.8. This one has gotten more attention than average, scoring higher than 53% 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 258,970 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 45 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 55% of its contemporaries.