↓ Skip to main content

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

Overview of attention for article published in Italian Journal of Pediatrics, April 2018
Altmetric Badge

Mentioned by

twitter
1 tweeter

Citations

dimensions_citation
15 Dimensions

Readers on

mendeley
24 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
Published in
Italian Journal of Pediatrics, April 2018
DOI 10.1186/s13052-018-0483-z
Pubmed ID
Authors

Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

Abstract

The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features. The preliminary group collected 168 subjects with clinical suspicion of NF1. They were evaluated following the National Institutes of Health (NIH) criteria for NF1, revised by Gutmann et al. 1997, integrated for 67 of them by molecular testing. According to these references, 112 of 168 patients were diagnosed as NF1. The sample was characterized by an equal sex ratio (57 males, 55 females) and age distribution ranging from 10 days to 60 years of age (mean age, 13 years). A wide spectrum of clinical features has been observed in our patients. Mutational analysis resulted positive in 51 cases (76%). Twenty-four mutations detected in our cohort have not been reported to date. This study may contribute to a better definition of genotypic and phenotypic features of NF1 patients, with respect to further insights into the clinical characterization of the disease. In addition, an amplification of the spectrum of mutations in the NF1 gene has been documented.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 5 21%
Student > Ph. D. Student 3 13%
Other 2 8%
Researcher 2 8%
Student > Master 1 4%
Other 2 8%
Unknown 9 38%
Readers by discipline Count As %
Medicine and Dentistry 6 25%
Biochemistry, Genetics and Molecular Biology 3 13%
Nursing and Health Professions 3 13%
Pharmacology, Toxicology and Pharmaceutical Science 1 4%
Immunology and Microbiology 1 4%
Other 1 4%
Unknown 9 38%

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 06 April 2018.
All research outputs
#10,199,267
of 12,768,104 outputs
Outputs from Italian Journal of Pediatrics
#285
of 460 outputs
Outputs of similar age
#206,684
of 273,897 outputs
Outputs of similar age from Italian Journal of Pediatrics
#1
of 2 outputs
Altmetric has tracked 12,768,104 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 460 research outputs from this source. They receive a mean Attention Score of 3.7. This one is in the 24th percentile – i.e., 24% of its peers scored the same or lower than it.
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 273,897 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 2 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them