373 p.F508del homozygosity and the genotype-phenotype relationship in Northern Greece

Fotoulaki, Maria; Vasilaki, Konstantina; Poulou, Myrto; Tzetis, Maria; Tentzidou, Kyriaki; Sotiriadou, Fotini; Nousia-Arvanitakis, Sanda

doi:10.1016/s1569-1993(11)60385-8

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2014

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“…Such discrepancies could probably be attributed to differences in the genetic background of the various CF populations such as the frequency of mutations other than F508del, which are considered to be related to a more severe phenotype. Indeed, 56.9% of the patients in the present cohort were found to carry two severe CFTR mutations, a fact that may explain the increased percentage of undernourished patients. It is also important to highlight the potential effect of DM on the NS of CF patients .…”

Section: Discussionmentioning

confidence: 73%

Prevalence of malnutrition and obesity among cystic fibrosis patients

Panagopoulou

Fotoulaki

Nikolaou

et al. 2014

Pediatrics International

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Background: Optimal nutritional status (NS) in cystic fibrosis (CF) is associated with better lung function and increased overall survival. This study estimated the prevalence of malnutrition and obesity among CF patients in a tertiary center. Conclusions: Despite appropriate management only one-third of the present patients had optimal NS. One-fourth were malnourished and a significant percentage were overweight/obese. The latter were mostly carriers of mutations other than F508del and had better pulmonary function. CF patients require intensive monitoring for both malnutrition and overweight/obesity. Methods

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Section: Discussionmentioning

confidence: 73%