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Diagnosis of Cystic Fibrosis in Screened Populations

Overview of attention for article published in Journal of Pediatrics, February 2017
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107 Mendeley
Title
Diagnosis of Cystic Fibrosis in Screened Populations
Published in
Journal of Pediatrics, February 2017
DOI 10.1016/j.jpeds.2016.09.065
Pubmed ID
Authors

Philip M. Farrell, Terry B. White, Michelle S. Howenstine, Anne Munck, Richard B. Parad, Margaret Rosenfeld, Olaf Sommerburg, Frank J. Accurso, Jane C. Davies, Michael J. Rock, Don B. Sanders, Michael Wilschanski, Isabelle Sermet-Gaudelus, Hannah Blau, Silvia Gartner, Susanna A. McColley

Abstract

Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening (NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS protocols, misunderstandings about screening vs diagnostic tests, and the lack of guidelines for presumptive diagnoses. There is also confusion regarding the designation of age at diagnosis. To improve diagnosis and achieve standardization in definitions worldwide, the CF Foundation convened a committee of 32 experts with a mission to develop clear and actionable consensus guidelines on diagnosis of CF with an emphasis on screened populations, especially the newborn population. A comprehensive literature review was performed with emphasis on relevant articles published during the past decade. After reviewing the common screening protocols and outcome scenarios, 14 of 27 consensus statements were drafted that apply to screened populations. These were approved by 80% or more of the participants. It is recommended that all diagnoses be established by demonstrating dysfunction of the CF transmembrane conductance regulator (CFTR) channel, initially with a sweat chloride test and, when needed, potentially with newer methods assessing membrane transport directly, such as intestinal current measurements. Even in babies with 2 CF-causing mutations detected via NBS, diagnosis must be confirmed by demonstrating CFTR dysfunction. The committee also recommends that the latest classifications identified in the Clinical and Functional Translation of CFTR project [http://www.cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 107 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 107 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 24 22%
Other 12 11%
Student > Master 11 10%
Researcher 9 8%
Student > Doctoral Student 8 7%
Other 21 20%
Unknown 22 21%
Readers by discipline Count As %
Medicine and Dentistry 45 42%
Biochemistry, Genetics and Molecular Biology 14 13%
Nursing and Health Professions 8 7%
Agricultural and Biological Sciences 4 4%
Immunology and Microbiology 2 2%
Other 12 11%
Unknown 22 21%

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 03 February 2017.
All research outputs
#12,304,559
of 16,135,689 outputs
Outputs from Journal of Pediatrics
#7,794
of 9,677 outputs
Outputs of similar age
#236,966
of 359,991 outputs
Outputs of similar age from Journal of Pediatrics
#131
of 196 outputs
Altmetric has tracked 16,135,689 research outputs across all sources so far. This one is in the 20th percentile – i.e., 20% of other outputs scored the same or lower than it.
So far Altmetric has tracked 9,677 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.7. This one is in the 16th percentile – i.e., 16% 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 359,991 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 196 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.