ABSTRACT
Background Globally, the prevalence of protruding ears is relatively frequent. Ear deformities manifest due to underdevelopment of the antihelical fold, conchal hypertrophy, and/or an obtuse conchoscaphal angle. The availability of multiple approaches proves that there isn't a single optimal accepted procedure. The Modified Stenström otoplasty technique supports the surgeon in the management of underdeveloped antihelix fold, conchal hypertrophy, and obtuse conchoscaphal angle among other deformities. We are the first to evaluate the clinical effects and measure the satisfaction rate post-otoplasty using the modified Stenström technique with a case series study. Methods Six patients were included in the study with a total of 12 ears operated on between February 2021 and July 2022. Utilizing the modified Stenström technique for bilateral protruding ears. All patients had six postoperative follow-up visits with fixed intervals; one week, three weeks, six weeks, three months, six months, and one year. During their one-year postoperative follow-up appointment, all patients completed the satisfaction survey questions. Results Six individuals were studied, three males and three females with a mean age of 23.1 (range, 7-53 years old). There were no complications or recurrences observed. Based on the responses we collected, all patients reported a high satisfaction rate at one-year postoperative follow-up. Conclusion The modified Stenström technique yields good naturally appearing ears. It is an easy and safe technique to apply. It has a short recovery period, and no hospital stay is required. All contribute to a high satisfaction rate among studied patients.
ABSTRACT
BACKGROUND: Previous investigations assessing the genetic cause of pediatric hypertrophic cardiomyopathy (HCM) found underlying genetic mutations in 50-60% of cases. The purpose of our study was to analyze whether this number can be augmented by applying next-generation sequencing and directing further diagnostics by discussing unsolved cases in a multidisciplinary board. METHODS AND RESULTS: 42 patients with the diagnoses of HCM made before age 18 years were treated in our center from 2000 to 2016. Genetic analysis was performed in 36 subjects, a genetic defect was detected in 29 (78%) patients. 15 individuals (42%) had pathogenic variants in genes encoding sarcomere proteins, and 5 (14%) in genes coding for components of the RAS/MAPK signaling pathway. 4 subjects (11%) had mutations in the GAA gene (Pompe disease), and 3 (8%) had Frataxin repeat expansions (Friedreich's ataxia). One patient each showed a mutation in BAG3 and LMNA. Discussion of unsolved HCM cases after performing next-generation sequencing (28 genes) in an interdisciplinary board unraveled the genetic cause in 9 subjects (25%). CONCLUSION: A definite genetic diagnosis can be reached in nearly 80% with HCM of childhood onset. Next-generation sequencing in conjunction with a multidisciplinary cooperation can enhance the diagnostic yield substantially. This may be important for risk stratification, treatment planning and genetic counseling.
