Evidence map›Paper›PMID 26635942›Full record

ArticleIranian journal of pediatrics2015

Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency.

Ahmad Khodadad, Elaheh Elahi, Setareh Sadat Bani Hassani, Pejman Rouhani, Bamdad Sadeghi, Nima Rezaei

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Iranian journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 89% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

6 authors at 3 institutions in 1 country.

Ahmad KhodadadChildren's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran ; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, IR Iran.
Elaheh ElahiSchool of Biology, College of Science, University of Tehran, Tehran, IR Iran.
Setareh Sadat Bani HassaniChildren's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.
Pejman RouhaniChildren's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.
Bamdad SadeghiResearch Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IR Iran.
Nima RezaeiResearch Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IR Iran ; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran ; Universal Scientific Education and Research Network, Tehran, IR Iran.
Tehran University of Medical Sciences · IRChildren's Medical Center · IRUniversity of Tehran · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCystic fibrosis (CF) is the most prevalent lethal autosomal recessive disease with a broad spectrum of phenotypes. Mutation of ΔF508 in the CFTR gene is the most important and lethal mutation in CF, which contains 70% of all predisposing mutations for CF worldwide.

objectivesDetermining frequency of genotypes with ΔF508 mutation in CFTR gene, and evaluation of correlation between genotype and phenotype of Iranian patients with CF. PATIENTS AND

methodsThirty six patients were included in this cross sectional study. ΔF508 mutations in both alleles of the CFTR gene were checked.

resultsAmong 36 pediatric patients, ΔF508 mutation was detected in 9 (25%) patients; 2 patients were heterozygous, and 7 patients homozygous for this mutation. From overall 72 tracked alleles, 11 (15.2%) were found to have ΔF508 mutations. Differences in prevalence of dyspnea and bronchiectasis were significant in homozygote group, compared with non-mutated group for ΔF508.

conclusionsIt seems that more ΔF508 mutated alleles lead to more severe symptoms of CF.

Indexed as

Cystic FibrosisGenotypePhenotypeΔ F508 Mutation

Identifiers

PMID26635942
PMCPMC4662842
OpenAlexW2187429731

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.