Gestational and Neonatal Characteristics of Children with Cystic Fibrosis: A Cohort Study

Festini, Filippo; Taccetti, Giovanni; Repetto, T.; Reali, Maria Francesca; Campana, S.; Mergni, Gianfranco; Marianelli, L; Martino, Maurizio de

doi:10.1016/j.jpeds.2005.04.031

Cited by 37 publications

(44 citation statements)

References 16 publications

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“…2A), similar to observations in CFTR −/− mice (24,28), CFTR −/− pigs (29), and humans with CF (30,31). These results suggest that the growth defect may not be due solely to reduced or absent CFTR in intestinal epithelium, a result consistent with findings in CF pigs and humans with CF (29).…”

Section: Resultssupporting

confidence: 86%

Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR ^−/− mice

Ostedgaard

Meyerholz²,

Vermeer³

et al. 2011

Proc. Natl. Acad. Sci. U.S.A.

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Gene transfer could provide a novel therapeutic approach for cystic fibrosis (CF), and adeno-associated virus (AAV) is a promising vector. However, the packaging capacity of AAV limits inclusion of the full-length cystic fibrosis transmembrane conductance regulator (CFTR) cDNA together with other regulatory and structural elements. To overcome AAV size constraints, we recently developed a shortened CFTR missing the N-terminal portion of the R domain (residues 708–759, CFTRΔR) and found that it retained regulated anion channel activity in vitro. To test the hypothesis that CFTRΔR could correct in vivo defects, we generated CFTR −/− mice bearing a transgene with a fatty acid binding protein promoter driving expression of human CFTRΔR in the intestine ( CFTR −/− ;TgΔR ). We found that intestinal crypts of CFTR −/− ;TgΔR mice expressed CFTRΔR and the intestine appeared histologically similar to that of WT mice. Moreover, like full-length CFTR transgene, the CFTRΔR transgene produced CFTR Cl − currents and rescued the CFTR −/− intestinal phenotype. These results indicate that the N-terminal part of the CFTR R domain is dispensable for in vivo intestinal physiology. Thus, CFTRΔR may have utility for AAV-mediated gene transfer in CF.

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Section: Resultssupporting

confidence: 86%

Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR ^−/− mice

Ostedgaard

Meyerholz²,

Vermeer³

et al. 2011

Proc. Natl. Acad. Sci. U.S.A.

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“…CFTR is thought to play a role in placental ion exchange (Davis, Shennan, & Boyd, 1985). If placental CFTR is missing, reduced fetal nutrition could be a possible result (Festini et al, 2005). Another hypothesis is that decreased exocrine pancreatic function in utero could reduce intrauterine nutrition (Festini et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Growth Deficiency in Cystic Fibrosis Is Observable at Birth and Predictive of Early Pulmonary Function

Darrah

Nelson

Damato

et al. 2016

Biological Research For Nursing

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“…Previous studies have shown that the mean birth weight of infants with CF is statistically lower than that of the general population [31][32][33] ; thus, maternal cigarette smoking causes a further reduction in birth weight. Active maternal smoking during gestation was not found to affect any of the 3 measures of lung function.…”

Section: Environment-phenotype Effectsmentioning

confidence: 99%

Interactions Between Secondhand Smoke and Genes That Affect Cystic Fibrosis Lung Disease

Collaco¹,

Vanscoy²,

Bremer³

et al. 2008

JAMA

132

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Context Disease variation can be substantial even in conditions with a single gene etiology such as cystic fibrosis (CF). Simultaneously studying the effects of genes and environment may provide insight into the causes of variation.Objective To determine whether secondhand smoke exposure is associated with lung function and other outcomes in individuals with CF, whether socioeconomic status affects the relationship between secondhand smoke exposure and lung disease severity, and whether specific gene-environment interactions influence the effect of secondhand smoke exposure on lung function. Design, Setting, and ParticipantsRetrospective assessment of lung function, stratified by environmental and genetic factors. Data were collected by the US Cystic Fibrosis Twin and Sibling Study with missing data supplemented by the Cystic Fibrosis Foundation Data Registry. All participants were diagnosed with CF, were recruited between October 2000 and October 2006, and were primarily from the United States.Main Outcome Measures Disease-specific cross-sectional and longitudinal measures of lung function. ResultsOf 812 participants with data on secondhand smoke in the home, 188 (23.2%) were exposed. Of 780 participants with data on active maternal smoking during gestation, 129 (16.5%) were exposed. Secondhand smoke exposure in the home was associated with significantly lower cross-sectional (9.8 percentile point decrease; PϽ.001) and longitudinal lung function (6.1 percentile point decrease; P=.007) compared with those not exposed. Regression analysis demonstrated that socioeconomic status did not confound the adverse effect of secondhand smoke exposure on lung function. Interaction between gene variants and secondhand smoke exposure resulted in significant percentile point decreases in lung function, namely in CFTR non-⌬F508 homozygotes (12.8 percentile point decrease; P=.001), TGF␤1−509 TT homozygotes (22.7 percentile point decrease; P=.006), and TGF␤1 codon 10 CC homozygotes (20.3 percentile point decrease; P=.005).Conclusions Any exposure to secondhand smoke adversely affects both crosssectional and longitudinal measures of lung function in individuals with CF. Variations in the gene that causes CF (CFTR) and a CF-modifier gene (TGF␤1) amplify the negative effects of secondhand smoke exposure.

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Gestational and Neonatal Characteristics of Children with Cystic Fibrosis: A Cohort Study

Cited by 37 publications

References 16 publications

Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR ^−/− mice

Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR ^−/− mice

Growth Deficiency in Cystic Fibrosis Is Observable at Birth and Predictive of Early Pulmonary Function

Interactions Between Secondhand Smoke and Genes That Affect Cystic Fibrosis Lung Disease

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Gestational and Neonatal Characteristics of Children with Cystic Fibrosis: A Cohort Study

Cited by 37 publications

References 16 publications

Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR −/− mice

Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR −/− mice

Growth Deficiency in Cystic Fibrosis Is Observable at Birth and Predictive of Early Pulmonary Function

Interactions Between Secondhand Smoke and Genes That Affect Cystic Fibrosis Lung Disease

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Product

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Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR ^−/− mice

Cystic fibrosis transmembrane conductance regulator with a shortened R domain rescues the intestinal phenotype of CFTR ^−/− mice