Acquisition bias may have led to acceptance of the false null hypothesis that prevalence of scoliosis is the same in cystic fibrosis as the general population

2013 ◽  
Vol 49 (2) ◽  
pp. 201-201 ◽  
Author(s):  
C. Hathorn ◽  
A. Fall ◽  
S. McGurk ◽  
A.I. Tsirikos ◽  
D.S. Urquhart
Keyword(s):  
Cystic Fibrosis ◽  
General Population ◽  
Null Hypothesis ◽  
False Null Hypothesis

scholarly journals Surveillance of Colorectal Cancer (CRC) in Cystic Fibrosis (CF) Patients

2021 ◽  
Vol 3 (2) ◽  
pp. 84-95
Author(s):  
Fabio Ingravalle ◽  
Giovanni Casella ◽  
Adriana Ingravalle ◽  
Claudio Monti ◽  
Federica De Salvatore ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cystic Fibrosis ◽  
General Population ◽  
Genetic Disorder ◽  
The United States ◽  
Screening Colonoscopy ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Increased Risk ◽  
Speciality Training

Cystic Fibrosis (CF) is the commonest inherited genetic disorder in Caucasians due to a mutation in the gene CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and it should be considered as an Inherited Colorectal Cancer (CRC) Syndrome. In the United States, physicians of CF Foundation established the “Developing Innovative Gastroenterology Speciality Training Program” to increase the research on CF in gastrointestinal and hepatobiliary diseases. The risk to develop a CRC is 5–10 times higher in CF patients than in the general population and even greater in CF patients receiving immunosuppressive therapy due to organ transplantation (30-fold increased risk relative to the general population). Colonoscopy should be considered the best screening for CRC in CF patients. The screening colonoscopy should be started at the age of 40 in CF patients and, if negative, a new colonoscopy should be performed every 5 years and every 3 years if adenomas are detected. For transplanted CF patients, the screening colonoscopy could be started at the age of 35, in transplanted patients at the age of 30 and, if before, at the age of 30. CF transplanted patients, between the age of 35 and 55, must repeat colonoscopy every 3 years. Our review draws attention towards the clinically relevant development of CRC in CF patients, and it may pave the way for further screenings and studies.

Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population

2020 ◽  
Vol 56 (3) ◽  
pp. 2000558 ◽  
Author(s):  
Yunus Çolak ◽  
Børge G. Nordestgaard ◽  
Shoaib Afzal
Keyword(s):  
Lung Cancer ◽  
Cystic Fibrosis ◽  
Overall Survival ◽  
General Population ◽  
Chronic Bronchitis ◽  
Morbidity And Mortality ◽  
Airflow Limitation ◽  
Single Individual ◽  
General Population Study

Cystic fibrosis (CF) is caused by autosomal-recessive inheritance of a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR), up to 90% due to Phe508del mutation in the CFTR gene. We tested the hypothesis that CFTR Phe508del carriers have increased morbidity and mortality versus non-carriers in the general population.We genotyped 108 035 randomly selected white Danish individuals from the Copenhagen General Population Study (aged from 20–100 years) for CFTR Phe508del mutation (rs113993960). Risk of chronic bronchitis and airflow limitation was assessed cross-sectionally. Overall survival and risk of bronchiectasis, lung cancer, pneumonia, chronic rhinosinusitis, airway bleeding, spontaneous pneumothorax, respiratory failure, acute and chronic pancreatitis, liver cirrhosis, ileus, gastric and colorectal cancer, and male infertility were assessed prospectively during up to 15 years of follow-up (median: 9 years). A single individual was excluded due to homozygosity for CFTR Phe508del and known CF. No other individuals had diagnosed CF at baseline examination or during follow-up.Among the resulting 108 034 individuals, 105 176 (97%) were non-carriers and 2858 (3%) were carriers (i.e. were heterozygous for CFTR Phe508del). Overall survival was similar between carriers and non-carriers. Compared to non-carriers and with multivariable adjustment, carriers had an odds ratio (OR) of 1.31 (95% CI 1.16–1.48) for chronic bronchitis, a hazard ratio (HR) of 1.88 (95% CI 1.03–3.45) for bronchiectasis and 1.52 (95% CI 1.12–2.08) for lung cancer. Carriers did not differ from non-carriers concerning lung function or any other morbidity outcomes as mentioned above.In the general population, carriers of CFTR Phe508del have a normal lifespan but an increased risk of chronic bronchitis (1.3-fold), bronchiectasis (1.9-fold) and lung cancer (1.5-fold).

Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient

1994 ◽  
Vol 40 (10) ◽  
pp. 1972-1974 ◽  
Author(s):  
G J Tsongalis ◽  
G Faber ◽  
F G Dalldorf ◽  
K J Friedman ◽  
L M Silverman ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
General Population ◽  
Lung Disease ◽  
Genetic Disease ◽  
Obstructive Lung Disease ◽  
Malignant Disease ◽  
Molecular Data ◽  
Cystic Fibrosis Mutation ◽  
First Case ◽  
Adenocarcinoma Of The Pancreas

Abstract A case of adenocarcinoma of the pancreas and mild lung disease in a 39-year-old man homozygous for the delta F508 cystic fibrosis mutation is presented. Cystic fibrosis is the most common lethal genetic disease in Caucasians, and is most commonly associated with severe obstructive lung disease. To our knowledge, this is only the fifth case of adenocarcinoma of the pancreas in a CF patient to be reported and the first case for which molecular data are available. The rare incidence of this type of malignancy in the general population suggests a possible association of CF with this malignant disease.

Expressions of hope in cystic fibrosis patients: a comparison with the general population

Heart & Lung ◽  
2004 ◽  
Vol 33 (2) ◽  
pp. 111-118 ◽  
Author(s):  
Tone Rustøen ◽  
Astrid Klopstad Wahl ◽  
Berit Rokne Hanestad ◽  
Eva Gjengedal ◽  
Torbjorn Moum
Keyword(s):  
Cystic Fibrosis ◽  
General Population

scholarly journals Increased Thrombophilic Tendency in Pediatric Cystic Fibrosis Patients

2009 ◽  
Vol 16 (1) ◽  
pp. 71-76 ◽  
Author(s):  
Vaughan Williams ◽  
Adrian B. M. Griffiths ◽  
Zen L. Yap ◽  
James Martin ◽  
Gregory Smith ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
General Population ◽  
Protein C ◽  
Activated Protein C ◽  
Protein S ◽  
Activated Protein C Resistance ◽  
Antithrombin Deficiency ◽  
Indwelling Catheters ◽  
C Protein ◽  
Lupus Anticoagulants

Thrombophilia has recently been reported to be increased in patients with cystic fibrosis (CF). We wanted to determine whether this was applicable to our population with CF and how our patients compared to the previously reported groups. Seventy one pediatric CF patients were assessed for a thrombophilic tendency, using a lupus anticoagulant screen, protein C, protein S, antithrombin assay, and activated protein C resistance (APCR) screen. The incidence of activate protein C resistance (4.2%) was within expected limits for the general population as was the incidence of antithrombin deficiency. However there was a marked increase in the incidence of lupus anticoagulants (18%) and 14% and 19.7% of the patients showed a reduced protein C and protein S, respectively, far in excess of the general population. This increased incidence of thrombophilia was not related to any specific CF phenotype and while perturbed liver function cannot be entirely ruled out, it appeared unlikely to be responsible for all the abnormal coagulation findings. Despite the apparent thrombophilic tendency, no clinically evident thrombotic episodes were noted during the study period. Thrombophilia is of concern because of the increasingly frequent placement of indwelling catheters in CF patients. The precise cause for the thrombophilic tendency in CF patients is unknown at this stage.

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