Evidence map›Paper›PMID 23401342›Full record

ArticlePediatric pulmonology2014

Cystic fibrosis in a Hispanic adolescent.

Jenny H Lin, Joseph M Collaco, Shruti M Paranjape

Abstract readCase Reports
In one paragraph

Article in Pediatric pulmonology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 97% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Jenny H LinEudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Joseph M Collaco
Shruti M Paranjape
Johns Hopkins University · USJohns Hopkins Medicine · US

Funding

Multidisciplinary Training Program in Pediatric PulmonaryT32HL072748 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI Joseph Michael Collaco · 2003 to 2026
$6.1M
NHLBI NIH HHS T32 HL072748
6 · The paper itself

Abstract

We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which results in a premature stop codon in exon 20 of the CFTR gene. This case, highlighted by the identification of a deleterious, disease-causing mutation, illustrates the importance of maintaining both a high clinical suspicion for CF and low threshold for obtaining genetic testing in a non-Caucasian Hispanic adolescent with a characteristic clinical presentation.

Indexed as

AdolescentCodon, NonsenseCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorExonsFrameshift MutationHispanic or LatinoHumansMaleSequence Analysis, DNACFTR protein, humanCodon, NonsenseCystic Fibrosis Transmembrane Conductance Regulatorcystic fibrosisframeshift mutationHispanic

Identifiers

PMID23401342
PMCPMC4052445
OpenAlexW1489288313

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.