Evaluation of patients after different types of secondary cleft palate repair.

The aim of this retrospective study was to evaluate results of four different surgical approaches to palatoplasty and to demonstrate which type showed the lowest number of cases with the need for secondary surgeries. The results of 227 patients who underwent cleft palate surgical repair over a 13-year period (2000-2012) were included. The incidence rates of oronasal fistula, velopharyngeal insufficiency with the need of pharyngeal flap and pharyngoplasty were examined. The need for revision surgery was found in 48 patients (21.1 %). A significantly higher rate of cases with the need for secondary correction was found in patients with a complete cleft (44 %) as compared to patients with incomplete cleft palate (9.8 %). A higher percentage for additional surgery was noted after the Bardach procedure (50 %) as opposed to the lower revision rate after Veau-Wardill-Kilner (22.8 %) and Furlow (17.6 %). After the von Langenbeck procedure, the need for revision eventuated only in 5.5 % of cases. It is important to mention that there were no significant differences in the incidence of secondary surgery between the patients with cleft palate with or without the presence of Pierre Robin sequence. Neither there was observed a significant difference in the incidence of additional surgery between male and female patients. However, a higher need for pharyngeal flap was noted in the female group (Tab. 8, Ref. 38). Keywords: complications after palatoplasty, cleft repair techniques, Pierre Robin sequence, pharyngeal flap.

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

BACKGROUND: Progressive bilateral sensorineural deafness in postlingual period may be linked to many different etiologies including genetic factors. Identification of the exact deafness cause may, therefore, be quite challenging. Here we present a family with late-onset hearing loss as an autosomal dominant trait caused by a novel EYA4 mutation. CASE PRESENTATION: Forty-four years old female proband clinically investigated for progressive hearing loss and occasional dizziness with positive family history for deafness was subject to molecular-genetic testing. Patient's DNA sample was analyzed by whole exome sequencing. We identified a novel missense variant c.804G > C located at the last base pair of exon 10 in EYA4. Candidate variant was confirmed by Sanger sequencing in the proband and her family members. In silico prediction tools and co-segregation analysis were used to indicate pathogenicity of the identified variant. To confirm our hypothesis, we performed minigene assay to demonstrate if the transcript of exon 10 in EYA4 is present. We provide evidence that this mutation in vitro compromises donor site functionality and causes exon 10 skipping and frameshift that most likely results in nonsense-mediated mRNA decay. The onset of moderate to severe hearing loss in the family ranged from 10 to 40 years. The normal cardiac phenotype was confirmed by ECG and echocardiography. CONCLUSIONS: We identified a novel EYA4 mutation associated with adult-onset autosomal dominant sensorineural hearing loss. This report extends the knowledge of spectrum of EYA4 mutations and demonstrates the pathogenicity of a variant affecting specific position in the gene. A comprehensive review of known EYA4 mutations is also given and their impact on cardiac phenotype is discussed. Our findings highlight the importance of genetic testing and complex clinical assessment in patients with familial progressive hearing loss.