Effect of the F508del genotype on outcomes of endoscopic sinus surgery in children with cystic fibrosis

Objective

Numerous authors have sought to describe genotype–phenotype correlations in cystic fibrosis (CF), notably to pancreatic insufficiency and lung disease. However, few studies have focused on the association between the F508del genotype and response to sinus surgery. The objective of this study is to assess the effect of the F508del genotype on sinonasal disease severity and outcomes following functional endoscopic sinus surgery (FESS) in a pediatric population.

Methods

A retrospective chart review of 153 children with CF seen at a tertiary care pediatric hospital from 1995 to 2008 was performed. Patients were classified into one of three groups according to F508del genotype, either as homozygous, heterozygous or not carrying a F508del mutation. The sinonasal disease phenotype of the three groups was compared based on clinical and radiological findings, extent of endoscopic sinus surgery and rate of revision surgery.

Results

The relationship between the F508del genotype and pancreatic insufficiency was confirmed (p < 0.05). There was no association between the F508del genotype and increased need for FESS (p = 0.75). Moreover, no association was established between F508del homozygosity and presence of nasal polyps, Lund–Mackay score, extent of surgery or length of postoperative hospitalization. The rates of revision surgery did not differ significantly among the three genotypes analyzed (p = 0.59).

Conclusion

There is no clear association between the F508del genotype and an increased need for FESS, extent of surgery, or revision surgery. Given the phenotypic variability of sinonasal disease in patients with CF, a prospective study is needed to better understand outcomes following FESS and the contribution of gene modifiers to this effect.     

Assessment of quality of life after endoscopic sinus surgery for chronic rhinosinusitis

Chronic rhinosinusitis is a disease of undefined etiology that significantly impacts the quality of life of its patients. Various studies carried out in countries other than Brazil have shown endoscopic sinus surgery as an effective means of treating this condition.ObjectiveThis study aims to analyze, with the aid of SNOT-20, the association between endoscopic sinus surgery and disease-specific quality of life of Brazilian patients treated for chronic rhinosinusitis accompanied or not by nasal polyps.Materials and MethodsThis prospective study enrolled patients submitted to endoscopic sinus surgery after drug therapy failed to improve their symptoms. They were assessed based on questionnaire SNOT-20p before and 12 months after surgery. Improvement on total scores and on the five items deemed more important by each patient were assessed. The study also looked into the correlation between preoperative scores and postoperative improvement and if there were any gender-related improvement differences.ResultsForty-three patients aged 44 (19), md (IQR), 65% of whom (26/43) were males. Statistically significant improvement was seen on SNOT-20 and SNOT-20(5+) and a correlation was established between preoperative scores and postoperative improved scores (p<0.001). No gender-related differences were observed in quality of life.ConclusionEndoscopic sinus surgery in patients with chronic rhinosinusitis is associated with statistically significant improvements in disease-specific quality of life.     

Long-term outcomes of endoscopic sinus surgery for chronic rhinosinusitis with and without nasal polyps

Chronic rhinosinusitis (CRS) significantly affects patient quality of life. Medical and surgical treatments aim to clinically manage the condition.ObjectiveTo assess the long-term quality of life and clinical management of CRS in patients submitted to endoscopic sinus surgery.MethodThis prospective cross-sectional cohort study enrolled 38 patients and looked into the follow-up data of subjects diagnosed with CRS before surgery, three months after surgery, and at least two years after surgery. The Sinonasal Outcome Test 22 (SNOT-22) was used to assess response to treatment and long-term clinical management of the disease.ResultsSignificant improvements in the SNOT-22 scores were seen between the preoperative (61.3) and postoperative assessments with three (16.9) and 24 (32.3) months. No statistically significant differences were seen when patients with polyps were compared to polyp-free subjects. Few patients were controlled in both groups, and 7.89% of the subjects had revision surgery during the study.ConclusionEndoscopic sinus surgery significantly improved the quality of life of patients with chronic rhinosinusitis. Clinical control of the condition was acceptable, with few patients requiring re-operation within two years of the first surgery.     

Nasal and paranasal sinus endoscopy, computed tomography and microbiology of upper airways and the correlations with genotype and severity of cystic fibrosis

OBJECTIVE: Many studies have assessed clinical and functional aspects of lower airway affections in cystic fibrosis. Conversely, few studies have been performed to assess the clinical and functional affections of upper airways. The objective of the present study was to correlate the variables obtained by nasal and paranasal sinuses endoscopy, paranasal sinus laboratory and computed tomography (CT) scan findings, and to check the association with severity and genotype of cystic fibrosis patients. METHODS: Clinical and laboratory study of 50 patients with cystic fibrosis at a university center. All patients were submitted to CT scan, nasal and paranasal endoscopy and bacterioscopy of maxillary sinus, trachea and oropharynx secretion. Severity of cystic fibrosis was assessed by Shwachman score and the most frequent genetic mutations were identified. RESULTS: The prevalence of polyposis in the studied population was 36% and it was greater among homozygote for DeltaF 508. Shwachman score was correlated with age (p=0.003). The genotype was correlated with presence of nasal polyposis (p=0.006). There was no association between affections in CT scan and severity of cystic fibrosis (CF). Patients presented high prevalence of early colonization of Pseudomonas aeruginosa. CONCLUSIONS: Sinus disease in CF patients presents several clinical, endoscopic and tomographic affections. Although most of them are not correlated with severity and disease genotype, severity of CF is correlated with age and presence of polyposis is genotype-dependent.     

Nasal endoscopic and CT scan alterations of the paranasal sinuses as predictors of severity in patients with cystic fibrosis

Cystic Fibrosis (CF) results from mutation in the transmembrane conductance regulator gene, responsible for controlling secretory processes. The upper airways (UA) are usually involved in the form of chronic pansinusitis.ObjectiveTo evaluate UA changes in patients with CF and to establish the correlations between sinonasal CT and endoscopic endonasal findings and disease severity.MethodCross-sectional and prospective study with 20 patients older than 5 years with CF, assessing the Shwachman-Kulczycki (S-K) score, paranasal sinus tomography (CT) (Lund-Mackay score) and nasal endoscopy (Meltzer score).ResultsCT scan alterations were observed in 94% of cases. Endoscopic alterations findings in the upper airways were found in 10 patients. Nasal polyps were found in 3 patients (15%). There was a correlation between the intensity of changes on the CT and S-K score (p = 0.0097), and between endoscopic findings and S-K score (p = 0.0318). There was a positive correlation between the presence of chronic colonization and endoscopic findings (p = 0.0325), which was not observed on the CT (p = 0.2941).ConclusionThere is an inverse correlation between the S-K clinical score and nasal endoscopy and CT findings. Therefore, patients who are clinically more severe according to the S-K score have greater UA involvement.     

Crooked nose: outcome evaluations in rhinoplasty

A crooked nose is the result of deformities that might involve the bony nasal pyramid, the upper and lower lateral cartilages, and nasal septum, causing complaints of aesthetic and/or functional nature.PurposeTo evaluate how satisfied are those patients who underwent rhinoplasty to correct crooked nose, through the questionnaire Rhinoplasty Outcomes Evaluation (ROE).Material and methodA longitudinal study with retrospective analysis of preoperative satisfaction and prospective analysis of postoperative satisfaction of patients who underwent rhinoplasty. ROE questionnaire was applied twice in the same visit aiming at measuring patient satisfaction in both pre and postoperative periods. Nineteen patients who underwent rhinoplasty answered the ROE.ResultsFor all patients who underwent rhinoplasty, the average preoperative satisfaction score was of 24.6±11.3, while the average postoperative score was of 76.1±19.5 (p<0.0001). Average differences between pre and postoperative satisfaction scores in patients younger than 30 years of age were lower than those reported by ≥30-year-old patients (p=0.05).ConclusionFrom the Rhinoplasty Outcomes Evaluation questionnaire, it is possible to demonstrate the impact that rhinoplasty to correct a crooked nose determines the quality of life of patients. Approximately 90% of patients undergoing rhinoplasty believed they achieved a good or excellent postoperative result.     

Quantitative analysis of fungal DNA in chronic rhinosinusitis

OBJECTIVES/HYPOTHESIS: Fungi have been recognized as important pathogens in sinusitis; however, they are equally present in patients with and without sinusitis. The authors postulated that the quantity of fungal DNA in the nose is determinant of disease, is greater in patients with chronic rhinosinusitis, and is directly correlated to their quality of life. STUDY DESIGN: Prospective recruitment of patients with chronic rhinosinusitis. METHODS: Objective quality of life data were collected using three validated questionnaires: the Sinonasal Outcomes Test (SNOT-20), Medical Outcomes Short-Form 36 Survey (SF-36), and Guy Marks Asthma Questionnaire (GMAQ). Endoscopically guided middle meatus mucosal samples were collected from patients with chronic rhinosinusitis and normal control subjects. Fungal-specific polymerase chain reaction was performed on each sample. Every fungal-positive sample underwent fungal-specific quantitative polymerase chain reaction analysis. Statistical analysis was used to correlate fungal DNA quantities with outcomes indices between groups. RESULTS: Patients with chronic rhinosinusitis had a mean SNOT-20 index of 32.0 as compared with a SNOT-20 index of 17.3 (P <.01) in the normal control subjects. There were no statistical differences between the groups' indices for the SF-36 or GMAQ outcomes questionnaires. Four of 19 (21.1%) patients with chronic rhinosinusitis and 7 of 19 (36.8%) normal control subjects had positive findings for fungal DNA using polymerase chain reaction. The median relative quantity of fungal DNA to human DNA for chronic rhinosinusitis and control samples was identical (0.13) using quantitative polymerase chain reaction. CONCLUSION: The quantity of fungal DNA in the middle meatus did not differ in patients with and without chronic rhinosinusitis and was not correlated with quality of life outcomes. Therefore, the quantity of fungi does not explain pathogenicity in patients with chronic rhinosinusitis. However, because of small sample size, the study must be replicated in a larger patient population.     

Eosinophilic cationic protein as a marker of nasal inflammation in patients with cystic fibrosis.

OBJECTIVES: Evaluation was made of eosinophilic cationic protein (ECP) in nasal secretion for measuring the degree of nasal inflammation and monitoring response to therapy in cystic fibrosis (CF) patients with chronic rhinosinusitis. Symptoms and findings in regard to ECP levels before and after treatment were described. STUDY DESIGN: Study was prospective, with 21 CF patients aged 4 to 19 years; 20 healthy volunteers served as controls. Collection of nasal secretion by a sponge was performed, and blood samples were obtained for serum. Cystic fibrosis (CF) patients were classified according to nasal symptoms and findings. METHODS: ECP was measured by fluoroimmunoassay. Age, sex, nasal symptoms, and endoscopic and histological findings were obtained, and examinations were conducted before and after treatment; recurrences were recorded. RESULTS: In CF patients with chronic nasal inflammation, increased nasal levels of ECP were detected when compared with asymptomatic CF patients or healthy nonatopic subjects. ECP concentrations were strongly related to the extent of nasal disease; patients with nasal polyps had higher levels than those without. Checked at 1 and 4 months after treatment, ECP levels declined with regression of symptoms, and in patients with exacerbation of nasal disease, ECP levels rose. CONCLUSIONS: According to our study, there is a relationship between levels of ECP in nasal secretions and the degrees of nasal inflammation. In addition, the measurement of ECP could be useful in monitoring nasal disease in CF patients.     

Evaluation of the quality of life of patients with chronic rhinosinusitis by means of the SNOT-22 questionnaire

SNOT-22 is a questionnaire used to assess the quality of life of patients with chronic rhinosinusitis (CRS). It is broadly utilized to assess the surgical treatment of patients with CRS. In Brazil there are no studies utilizing the SNOT-22 in non-surgical patients.ObjectiveTo use the SNOT-22 questionnaire to assess the quality of life of individuals with chronic rhinosinusitis without previous surgery and with indication for clinical treatment.MethodProspective and analytical cohort and cross-sectional controlled clinical trial. We had 2 groups, one made up of patients with CRS and another one with adult individuals without the sinonasal disease, consecutively seen in an otorhinolaryngology clinic in Salvador, Bahia, between August of 2011 and June of 2012. They all filled out the Consent Form, a registration form and the SNOT-22.Results176 patients, 78 with CRS and 98 without the disease, the groups matched as far as gender, medication and respiratory allergies were concerned. Age was 40.7 + 13.5 years in the study group and 37.8 + 12.9 in controls (p = 0.26). The SNOT-22 median value in the study group was 53, compared to 8 in the control group (p = 0.001).ConclusionChronic rhinosinusitis reduces the quality of life of patients, according to the SNOT-22 questionnaire.     

Predictive factors and outcomes in endoscopic sinus surgery for chronic rhinosinusitis

PURPOSE: To assess objective and quality of life (QOL) outcomes before and after endoscopic sinus surgery (ESS) in patients with chronic rhinosinusitis (CRS) and to determine preoperative factors that predict surgical outcome in these patients. METHODS: One hundred nineteen adult patients with CRS and a mean follow-up of 1.4 +/- 0.35 years were evaluated prospectively including the following patient factors: prior sinus surgery, polyps, asthma, acetylsalicylic acid intolerance (ASA), smoking, allergy, depression, and sex. Computed tomography (CT), endoscopy, and QOL assessment was performed. Predictive value of patient factors was determined based on change in endoscopy and QOL scores after ESS. RESULTS: Objective outcomes: preoperative CT scores were significantly worse in patients with polyps, asthma, and ASA, whereas CT score was unaffected by prior sinus surgery, smoking, allergy, depression, and sex. Patients with CRS demonstrated significant improvement on nasal endoscopy after ESS, but preoperative, postoperative, and change in scores were affected by certain patient factors. Endoscopy scores were significantly worse in patients with prior sinus surgery, polyps, asthma, and ASA, but these patients also experienced the greatest improvement in endoscopy scores. Smokers and patients with depression had the least change in endoscopy scores. QOL outcomes: patients with CRS experienced improvement in QOL after ESS. Pre- and postoperative QOL was positively affected by polyps and adversely affected by ASA, depression, and female sex, but these groups still experienced significant improvement in QOL scores. Pre- and postoperative QOL was unaffected by prior sinus surgery, asthma, smoking, and allergies, and all of these groups experienced significant improvement in QOL scores. Factors predictive of outcome: ASA and depression were predictive of worse outcome. Preoperative CT scores approached significance as being predictive of outcome. CONCLUSION: Surgical management of CRS was associated with significant improvement on objective and QOL measures; however, specific patient factors, in particular ASA and depression, predict poorer outcome. Preoperative CT may be a predictor of endoscopic and QOL outcome and deserves further study.