BackgroundHigh heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis (CF). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients.MethodsForty‐eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included. Twenty‐seven exons of CFTR gene were sequenced to find sequence variations. Prevalence of pathogenic variations were determined and compared with other countries’ data.ResultsWe found 70 sequence variations. Eight of these are CF‐causing mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. Also this study is the second report of p.H609R in Ecuadorian population. Mutation prevalence differences between Ecuadorian population and other Latin America countries were found.ConclusionThe panel of mutations suggested as an initial screening for the Ecuadorian population with cystic fibrosis should contain the mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K.

Background:The second permanent molar plays an important role when considering extraction of first permanent molars severely affected by molar-incisor hypomineralization (MIH). Aim: To assess the association between MIH and enamel hypomineralization of the second permanent molars in terms of presence and severity. Design: In this retrospective cross-sectional study, permanent teeth were evaluated in 453 patients between the ages of 13 and 16 at a dental clinic, using intraoral photographs. A calibrated examiner classified enamel hypomineralization using the MIH index and dental caries experience using the DMFT and DMFS indices. Statistical analyses were performed using a linear generalized model and ordinal logistic regression. Results:The most commonly affected teeth by enamel hypomineralization were permanent molars, whereas incisors, premolars, and canines were less affected. The presence of severe defects in the first permanent molars was associated with mild defects in the second permanent molars (OR = 4.01; 95% CI: 2.50-7.77). Enamel hypomineralization was associated with increased caries experience (PR = 5.54; 95% CI: 3.81-9.06). Conclusion:Enamel hypomineralization mainly affects the first and second permanent molars. Mild defects in the second permanent molars tend to be more frequent in patients with severe MIH in the first permanent molars. The presence of enamel hypomineralization was associated with higher dental caries experience.

Background Currently, there is no consensus on the superiority of any material for the restorative treatment of molars affected by molar‐incisor hypomineralization (MIH). Aim To evaluate the survival of restorations with stainless‐steel crown (SSC) or composite resin (CR) in first permanent molars affected by MIH for 24 months. Design In this retrospective cohort study, 61 CR and 54 SSC restorations placed on molars affected by MIH of patients, aged between 7 and 10, that were treated and overseen at a university dental clinic in the period of 2017‐2020 were evaluated. The primary outcome was the failure‐free survival time. Parametric survival models were used for data censored by interval, and the comparison between SSC and CR was performed using the hazard ratio function with a 95% confidence interval. Results The survival of SSC and CR restorations after 24 months was 94.4% and 49.2%, respectively. This difference was influenced by the presence of previous restoration (aHR = 3.4; 95% CI: 1.2‐9.4) and cusp involvement (aHR = 4.0; 95% CI: 1.5‐11.2). Conclusion In molars with MIH and the need for restorative treatment, SSC had a significantly higher survival rate than CR over 24 months.