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Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Overview of attention for article published in Orphanet Journal of Rare Diseases, May 2017
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  • Above-average Attention Score compared to outputs of the same age (58th percentile)
  • Average Attention Score compared to outputs of the same age and source

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4 tweeters

Citations

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32 Dimensions

Readers on

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44 Mendeley
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Title
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
Published in
Orphanet Journal of Rare Diseases, May 2017
DOI 10.1186/s13023-017-0646-9
Pubmed ID
Authors

Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini

Abstract

A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and genotype-phenotype correlations in Italian patients with NLSDs. Twenty-one patients who satisfied the criteria for NLSDs were enrolled in a retrospective cross-sectional study to evaluate the genetic aspects, clinical signs at onset, disability progression and comorbidities associated with this group of diseases. During the clinical follow-up (range: 2-44 years, median: 17.8 years), two patients (9.5%, both with NLSD-I) died of hepatic failure, and a further five (24%) lost their ability to walk or needed help when walking after a mean period of 30.6 years of disease. None of the patients required mechanical ventilation. No patient required a heart transplant, one patient with NLSD-M was implanted with a cardioverter defibrillator for severe arrhythmias. The genotype/phenotype correlation analysis in our population showed that the same gene mutations were associated with a varying clinical onset and course. This study highlights peculiar aspects of Italian NLSD patients that differ from those observed in Japanese patients, who were found to be affected by a marked hypertrophic cardiopathy. Owing to the varying phenotypic expression of the same mutations, it is conceivable that some additional genetic or epigenetic factors affect the symptoms and progression in this group of diseases.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 44 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 23%
Student > Bachelor 7 16%
Professor > Associate Professor 6 14%
Student > Ph. D. Student 3 7%
Professor 2 5%
Other 5 11%
Unknown 11 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 18%
Medicine and Dentistry 6 14%
Neuroscience 6 14%
Computer Science 2 5%
Agricultural and Biological Sciences 2 5%
Other 6 14%
Unknown 14 32%

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 16 May 2017.
All research outputs
#4,925,841
of 10,263,476 outputs
Outputs from Orphanet Journal of Rare Diseases
#574
of 1,222 outputs
Outputs of similar age
#105,441
of 264,266 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#20
of 31 outputs
Altmetric has tracked 10,263,476 research outputs across all sources so far. This one has received more attention than most of these and is in the 51st percentile.
So far Altmetric has tracked 1,222 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. This one has gotten more attention than average, scoring higher than 50% 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 264,266 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 58% of its contemporaries.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.