ArticleThe Journal of pediatrics2005
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.
Article in The Journal of pediatrics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.The Journal of pediatrics · 2008Guideline
- Increased prevalence ofHeliyon · 2024Article
- CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Molecular genetics & genomic medicine · 2017Article
- Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.Genetic testing and molecular biomarkers · 2016Article
- Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.Human molecular genetics · 2016Article
- Refining the continuum of CFTR-associated disorders in the era of newborn screening.Clinical genetics · 2016Article
- Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2014Article
- CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.Journal of medical genetics · 2011Article
- Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis.American journal of respiratory and critical care medicine · 2010Article
- Atypical cystic fibrosis and CFTR-related diseases.Clinical reviews in allergy & immunology · 2008Review
- Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveTo determine which features of incomplete or "nonclassic" forms of cystic fibrosis (CF) are associated with deleterious CF transmembrane conductance regulator gene ( CFTR ) mutations, and to explore other etiologies for features not associated with deleterious CFTR mutations. STUDY
designClinical features were compared between 57 patients with deleterious mutations in each CFTR and 63 with no deleterious mutations. The Shwachman Bodian Diamond syndrome gene ( SBDS ) was sequenced to search for mutations in patients with no deleterious CFTR mutations and steatorrhea to determine if any had unrecognized Shwachman-Diamond syndrome (SDS).
resultsThe presence of a common CF-causing mutation, absence of the vas deferens, and Pseudomona aeruginosa in the sputum correlated with the presence of two deleterious CFTR mutations, whereas sweat chloride concentration, diagnostic criteria for CF, and steatorrhea did not. However, sweat chloride concentration correlated with CFTR mutation status in patients infected with P aeruginosa. One patient had disease-causing mutations in each SBDS .
conclusionsPresence of a common CF-causing mutation, absence of the vas deferens and/or P aeruginosa infection in a patient with features of nonclassic CF are predictive of deleterious mutations in each CFTR , whereas steatorrhea in the same context is likely to have etiologies other than CF transmembrane conductance regulator (CFTR) dysfunction.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.