Damak ve parafarengeal bölgeden kaynaklanan farklı iki dev pleomorfik adenom olgusu

Pleomorphic adenoma is the most common of minor salivary gland tumors. Pleomorphic adenoma of minor salivary glands are commonly located on the palate nevertheless rarely may originate from the parapharyngeal region. Pleomorphic adenomas on the palate show slow growth over the years. The tumors that originate from the parapharyngeal region could reach great dimensions. In this case report, an orphan and neglected geriatric patient who had giant pleomorphic adenoma on the palate and a young patient with a giant pleomorphic adenoma that was excised by transcervical approach without additional surgical procedures at the parapharyngeal region, were presented.Minör tükürük bezi kaynaklı tümörler arasında en sık görü- len pleomorfik adenomdur. Minör tükürük bezi kaynaklı pleomorfik adenom en sık damakta görülüp, parafarengeal bölgede nadiren karşımıza çıkar. Damak pleomorfik adenomları yıllar içinde yavaş büyüme gösterirler. Parafarengeal bölgeden kaynaklananlar büyük boyutlara ulaşabilirler. Bu makalede kimsesiz ve bakımsız kalmış geriatrik bir hastada damak bölgesinde yerleşik oldukça büyük boyutlara gelmiş pleomorfik adenom olgusu ile genç bir hastada yine oldukça büyük boyutlara ulaşmış ve ek cerrahi prosedüre ihtiyaç kalmadan transservikal yaklaşımla çıkartılabilmiş plemorfik adenom olgusu sunuldu

Inner Ear Involvement in Children with Familial Mediterranean Fever

OBJECTIVE: Familial Mediterranean fever (FMF) is the most common and best understood disease of hereditary periodic fever syndromes. Various degrees of sensorineural hearing loss can be seen in the progression of some hereditary periodic fever syndromes. There are very limited and controversial studies in the literature with regard to hearing loss in patients diagnosed with FMF. We aimed to evaluate cochlear function in children with FMF. MATERIALS and METHODS: Forty-nine patients diagnosed with FMF and 49 age- and sex-matched controls were included in the study. All of the children had undergone a routine ear-nose-throat examination. Patients with pathological findings in the otologic examination or a history of recurrent otitis media; using proven ototoxic drugs; or having an abnormal tympanometry finding were excluded from the study. Following audiologic evaluation, tympanometry and distortion product otoacoustic emissions testing were conducted on all subjects. Pure-tone and high-frequency audiometry were carried out on 40 subjects from both groups who could cooperate in the testing. RESULTS: Hearing thresholds of FMF patients were found to be increased at all frequencies (250 to 16,000) (p<0.001). The difference between the hearing thresholds of the two groups could be seen more prominently at higher frequencies, and despite a statistically significant difference, the hearing thresholds of the two groups were within the normal range of tonal audiometry frequencies. In the otoacoustic emission evaluation, the distortion products and signal/noise ratio of children with FMF were lower in the tested frequencies from 1000 to 4000 Hz (p<0.001). CONCLUSION: Our results demonstrated that FMF disease may cause hearing loss in children with FMF. Hearing loss in children with familial Mediterranean fever has been observed, showing increased hearing thresholds at all frequencies in audiometry, together with decreased distortion products and signal: noise ratios, demonstrated by distortion product otoacoustic emissions testing. We think this might be due to cochlear involvement. Regular follow-up of auditory function in FMF children may be helpful for determining early possible hearing loss

The effect of radiofrequency thermal ablation method on nasal mucociliary activity in patients with inferior turbinate hypertrophy

OBJECTIVESThis study aims to investigate the effect of radiofrequency thermal ablation (RFTA) treatment on nasal mucociliary activity before and after treatment in inferior turbinate hypertrophy.PATIENTS AND METHODSThirty-nine patients (21 males, 18 females; mean age 36.3±13.9 years; range 16 to 67 years) admitted to our clinic with complaint of nasal obstruction and diagnosed with stromal inferior turbinate hypertrophy were included in this study. Effect of RFTA treatment on nasal mucociliary activity was investigated by saccharine test before treatment and two months after treatment. Grade of nasal obstruction was evaluated by visual analog scale (VAS) before treatment and two months after treatment. Results were compared with paired t-test.RESULTSMean mucociliary activity times were 9.8±4.4 minutes before treatment and 9.6±4.1 minutes two months after treatment, and the difference between two tests was not statistically significant (p=0.3). Mean VAS scores for nasal obstruction were 6.5±1.2 before treatment and 3.8±1.0 two months after treatment, and the difference between two results was statistically significant (p=0.001). Difference between sexes in terms of saccharine transit time and VAS values before and after treatment was not statistically significant (p>0.05).CONCLUSIONIt was detected that RFTA has no adverse effect on mucociliary activity in the treatment of inferior turbinate hypertrophy, and this method is notably effective in relieving the nasal obstruction caused by inferior turbinate hypertrophy

Damak ve parafarengeal bölgeden kaynaklanan farklı iki dev pleomorfik adenom olgusu

Pleomorphic adenoma is the most common of minor salivary gland tumors. Pleomorphic adenoma of minor salivary glands are commonly located on the palate nevertheless rarely may originate from the parapharyngeal region. Pleomorphic adenomas on the palate show slow growth over the years. The tumors that originate from the parapharyngeal region could reach great dimensions. In this case report, an orphan and neglected geriatric patient who had giant pleomorphic adenoma on the palate and a young patient with a giant pleomorphic adenoma that was excised by transcervical approach without additional surgical procedures at the parapharyngeal region, were presented.Minör tükürük bezi kaynaklı tümörler arasında en sık görü- len pleomorfik adenomdur. Minör tükürük bezi kaynaklı pleomorfik adenom en sık damakta görülüp, parafarengeal bölgede nadiren karşımıza çıkar. Damak pleomorfik adenomları yıllar içinde yavaş büyüme gösterirler. Parafarengeal bölgeden kaynaklananlar büyük boyutlara ulaşabilirler. Bu makalede kimsesiz ve bakımsız kalmış geriatrik bir hastada damak bölgesinde yerleşik oldukça büyük boyutlara gelmiş pleomorfik adenom olgusu ile genç bir hastada yine oldukça büyük boyutlara ulaşmış ve ek cerrahi prosedüre ihtiyaç kalmadan transservikal yaklaşımla çıkartılabilmiş plemorfik adenom olgusu sunuldu

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

The high prevalence/incidence of hearing loss (HL) in humans makes it the most common sensory defect. The majority of the cases are of genetic origin. Non-syndromic hereditary HL is extremely heterogeneous. Genetic approaches have been instrumental in deciphering genes that are crucial for auditory function. In this study, we first used NADf chip to exclude the implication of known North-African mutations in HL in a large consanguineous Tunisian family (FT13) affected by autosomal recessive non-syndromic HL (ARNSHL). We then performed genome-wide linkage analysis and assigned the deafness gene locus to ch:5q23.2-31.1, corresponding to DFNB60 ARNSHL locus. Moreover, we performed whole-exome sequencing on FT13 patient DNA and uncovered aminoacid substitution p.Cys113Tyr in SLC22A4, a transporter of organic cations, cosegregating with HL in FT13 and therefore the cause of ARNSHL DFNB60. We also screened a cohort of small Tunisian HL families and uncovered an additional deaf proband of consanguineous parents that is homozygous for p.Cys113Tyr carried by the same microsatellite marker haplotype as in FT13, indicating that this mutation is ancestral. Using immunofluorescence, we found that Slc22a4 is expressed in stria vascularis (SV) endothelial cells of rodent cochlea and targets their apical plasma membrane. We also found Slc22a4 transcripts in our RNA-seq library from purified primary culture of mouse SV endothelial cells. Interestingly, p.Cys113Tyr mutation affects the trafficking of the transporter and severely alters Ergothioneine uptake. We conclude that SLC22A4 is an organic cation transporter of the SV endothelium that is essential for hearing, and its mutation causes DFNB60 form of HL