Evidence map›Paper›PMID 25824995›Full record

ArticleJournal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2015

Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

Danieli Barino Salinas, Patrick R Sosnay, Colleen Azen, Suzanne Young, Karen S Raraigh, Thomas G Keens, Martin Kharrazi

Abstract read
In one paragraph

Article in Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
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

9 citing papers in PubMed.

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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

7 authors.

Danieli Barino SalinasPediatrics-Pediatric Pulmonology, Keck School of Medicine, Children's Hospital Los Angeles, University of Southern California (USC), 4650 Sunset Boulevard, MS 83, Los Angeles, CA 90027, USA. Electronic address: dsalinas@chla.usc.edu.
Patrick R SosnayMcKusick-Nathans Institute of Medical Genetics, Medicine-Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, 5th Floor, 1830 E. Monument St., Baltimore, MD 21287, USA. Electronic address: psosnay@jhmi.edu.
Colleen AzenSouthern California Clinical and Translational Science Institute, Children's Hospital Los Angeles, University of Southern California, 4650 Sunset Boulevard, MS 142, Los Angeles, CA 90027, USA. Electronic address: cazen@chla.usc.edu.
Suzanne YoungThe Sequoia Foundation, 2166 Avenida De La Playa, La Jolla, CA 92037, USA. Electronic address: young.suzy@gmail.com.
Karen S RaraighMcKusick-Nathans Institute of Medical Genetics, Johns Hopkins University, Johns Hopkins University School of Medicine, 733 North Broadway, MRB 553, Baltimore, MD 21287, USA. Electronic address: kraraigh@jhmi.edu.
Thomas G KeensPediatrics-Pediatric Pulmonology, Keck School of Medicine, Children's Hospital Los Angeles, University of Southern California (USC), 4650 Sunset Boulevard, MS 83, Los Angeles, CA 90027, USA. Electronic address: tkeens@chla.usc.edu.
Martin KharraziEnvironmental Health Investigations Branch, California Department of Public Health, 850 Marina Bay Parkway, P-3, Richmond, CA 94804, USA. Electronic address: marty.kharrazi@cdph.ca.gov.

Funding

Southern California Clinical and Translational Science InstituteKL2TR000131 · NCATS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BUCHANAN, THOMAS A · 2012 to 2015
$2.1M
NCATS NIH HHS KL2 TR000131NCATS NIH HHS KL2TR000131
6 · The paper itself

Abstract

backgroundThe Clinical and Functional Translation of CFTR project (CFTR2) classified some cystic fibrosis transmembrane conductance regulator (CFTR) gene variants as non-cystic fibrosis (CF)-causing. To evaluate this, the clinical status of children carrying these mutations was examined.

methodsWe analyzed CF disease-defining variables over 2-6 years in two groups of California CF screen- positive neonates born from 2007 to 2011: (1) children with two CF-causing variants and (2) children with one CF-causing and one non-CF-causing variant, as defined by CFTR2.

resultsChildren carrying non-CF-causing variants had significantly higher birth weight, lower immunoreactive trypsinogen and sweat chloride values, higher first year growth curves, and a lower rate of persistent Pseudomonas aeruginosa colonization compared to children with two CF-causing variants.

conclusionsThe outcomes in children 2-6 years of age with the L997F, G576A, R1162L, V754M, R668C, R31C, and S1235R variants are consistent with the CFTR2 non-CF-causing classification.

Indexed as

MutationNeonatal ScreeningCohort StudiesCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorFemaleHumansInfant, NewbornMaleRetrospective StudiesCystic Fibrosis Transmembrane Conductance RegulatorCF-causing variantsCFTR2Cystic fibrosisGenotype-phenotype associationsNewborn screeningNon-CF-causing variants

Identifiers

PMID25824995
PMCPMC4587349

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Registered trials

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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.