Does the Efferent Auditory System Have a Role in Children with Specific Learning Disabilities?

Objective: This study aimed to compare the baseline transient otoacoustic emission (t-OAE) amplitudes and medial olivo-cochlear (MOC) efferent activity in children with specific learning disability (SLD) and children with normal development.Methods: The study was conducted in two groups. The patient group included 30 children aged 6 to 10 years and diagnosed with SLD, and the control group included 30 children in the same age range without SLD. The patient group included eight males and 22 females, and the control group included 14 females and 16 males. t-OAE and contralateral suppression test were performed in both groups.Results: In the first t-OAE measurements, a statistically significant difference was observed between the patient and the control group at frequencies of 1400, 2000, 2800, and 4000 Hz, but no such difference was observed at 1000 Hz frequency. In the control group, significantly better emission amplitudes were observed. No differences were found at any frequency between the patient and the control groups after suppression. When the subjects in the two groups were compared among themselves, there was a statistically significant difference between the before and after suppression scores in the patient group except at 4000 Hz. Likewise, an important difference was also observed in all frequencies in the control group.Conclusion: This study shows that suppression effects of t-OAE on children diagnosed with SLD and children with no SDL are not significantly different

Submandibular Gland Surgery: Our Clinical Experience

Objective: The aim of this study was to assess the demographic findings and surgical results of patients who underwent submandibular gland excision at a tertiary care center. Methods: The clinical characteristics and histopathological results of 45 patients who had undergone submandibular gland excision between 1997 and 2014 were evaluated in detail. Results: Twenty-eight (62.2%) and 17 (37.8%) patients presented with a complaint of a painful mass and painless mass, respectively. Histopathologic investigation of the surgical specimen revealed sialolithiasis in 14 patients (31.1%), chronic sialadenitis in 16 (35.6%), benign tumor in 12 (26.7%), malignant tumor in two (4.4%), and mucocele extravasation in one. As complications, permanent paralysis of the marginal mandibular branch of the facial nerve was seen in one patient (2.2%), temporary paralysis of the marginal mandibular branch of the facial nerve was seen in seven (15.6%), orocutaneous fistula was seen in one (2.2%), and temporary paralysis of the hypoglossal nerve was seen in one (2.2%). Conclusion: This study revealed that in patients presenting with complaints of a submandibular gland mass, sialolithiasis, sialadenitis, and benign masses were the mostly diagnosed pathologies. Transcervical submandibular gland excision is a satisfactory procedure with low complication and recurrence rates when it is performed on selected patients and obeyed to surgical techniques

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations

Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative in probands from each family. Mutation analysis was performed in families showing co-segregation of autosomal recessive SNHL with haplotypes at the DFNB7/11 locus. A total of six different mutations in seven families were identified, including novel missense alterations, p.G444R (c.1330G>A), p.R445C (c.1333C>T), and p.I677T (c.2030T>C), one novel splice site mutation IVS6+2 T>A (c.64+2T>A), and a novel large deletion of approximately 31kb at the 3' region of the gene including exons 19-24, as well as a previously reported nonsense mutation, p.R34X (c.100C>T). All identified mutations co-segregated with autosomal recessive SNHL in all families and were not found in Turkish hearing controls. These results expand the mutation spectrum of TMC1 with five novel mutations and provide data for the significant contribution of TMC1 mutations in hearing loss