Unusual phenotype in 35delG mutation: a case report.

BACKGROUND: Mutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the primary causes of prelingual nonsyndromic hearing loss in various populations. The 35delG mutation, one of the most common mutations of the GJB2 gene, usually causes prelingual, bilateral mild to profound, nonprogressive sensorineural hearing loss. CASE PRESENTATION: We present an unusual case of an 18-year-old Turkish female with heterozygous 35delG mutation and postlingual, profound-sloping, progressive and fluctuating unilateral sensorineural hearing loss. The phenotype is different from the usual findings. CONCLUSIONS: The 35delG mutation causing hearing loss may not always be reflected in the phenotype as expected and therefore may have different audiologic manifestations.

Role of Cochlear Nerve Diameter as a Prognostic Indicator for Hearing Recovery in Older Adults with Idiopathic Sudden Sensorineural Hearing Loss.

BACKGROUND: Idiopathic sudden sensorineural hearing loss is a disabling condition that lowers the quality of life specifically in older adults living alone. It is crucial to determine the outcome of the disease and to offer early treatment to prevent isolation caused by hearing impairment in this population. The objective of our study was to investigate whether the initial cochlear nerve thickness may predict the outcome of hearing recovery in older adults with idiopathic sudden sensorineural hearing loss. METHODS: The study population was composed of older adults that were referred with idiopathic sudden sensorineural hearing loss in 1 ear. Long-term audiological data of the cohort were analyzed according to Siegel's criteria on hearing recovery and were grouped according to complete recovery or treatment failure. Cochlear nerve diameters of the diseased and safe ears of each group, measured on reformatted images on magnetic resonance imaging, at the fundus, in the mid-internal acoustic canal, and at the entry point into the Pons were compared in each group and between groups. RESULTS: Mean cochlear nerve diameter was significantly larger in the recovered older adults (1.11 ± 0.27 mm) than in the non-recovered adults (0.94 ± 0.21 mm) at the mid-internal acoustic canal (Student's t-test, P < .05). Cochlear nerve thickness at mid-internal acoustic canal (≤0.8 mm) sensitivity for recovery failure was 89% and displayed an odds ratio 5.333, 95% CI (1.000-28.435). CONCLUSION: Cochlear nerve thickness in mid-internal acoustic canal in non-recovered older adults with idiopathic sudden sensorineural hearing loss is significantly thinner than the completely recovered group. Older adults with mid-internal acoustic canal cochlear nerve greatest diameter cutoff level of ≤0.8 mm are 5.33 times more exposed to recovery failure.

Connexin 26 (GJB2) Mutations Associated with Congenital Hearing Loss in a Country of Different Migration Routes: Turkey.

To determine the prevalence of DFNB1 mutations containing GJB2 (connexin 26) genes with deletion 35delG mutation in congenital hearing loss, and to analyze this gene according to regional differences based on geographic and socio-economic relations in Turkish patients in Istanbul. Our study includes 51 unrelated children with non-syndromic sensorineural hearing impairment with the proof of clinical ABR results. Molecular studies were performed using PCR- Mediated Site-Directed Mutagenesis assay, PCR and direct sequencing to screen for GJB2 and 35delG mutations. Genomic DNA is obtained from the peripheral blood which is taken using a Qiagen DNA isolation kit. GJB2-35delG mutations were found in 25.5% of the patients; 19.6% were homozygous, 5.8% were heterozygous. The ratio of 35delG mutation detected in the children of families with consanguineous marriages and not; were 18.5% (n = 5) and 33.3% (n = 8) of cases respectively. The 35delG mutations in the patients whose father and mother were both from the Black Sea region were 43.18% (n = 19). Our results show that 35delG mutation is at a high frequency in our country, although it is more common in children of parents from the Black Sea region. Screening for the 35delG mutation in the GJB2 gene is the best choice for early diagnosis and emergency response plans for treatment and rehabilitation.

The additive value of continuous positive airway pressure treatment on psychological symptoms.

OBJECTIVE: To screen psychological problems of patients with obstructive sleep apnea syndrome (OSAS) by utilizing the psychological symptom screening test Symptom Checklist-90-Revised (SCL-90-R) and to evaluate the effect of continuous positive airway pressure (CPAP) treatment. METHODS: The SCL-90-R and Epworth Sleepiness Scale (ESS) test were applied to 66 patients with Apnea-Hypopnea Index (AHI ≥ 30/h) using CPAP device and 20 healthy individuals; the test results were compared. RESULTS: The age of the patients ranged from 28 to 67 years, and the patient group comprised 54 males (81.8%) and 12 females (18.2%). The AHI scores ranged from 30.05 to 99.80, with a mean of 49.34 ± 21.40. Significant improvement was seen in 6 of the 11 SCL-90-R scores in CPAP-treated patients. CONCLUSION: The authors conclude that the SCL-90-R test may be appropriate for evaluating the response to CPAP treatment in OSAS patients and monitoring the psychosocial effects of treatment.

A severe headache due to pigmented villonodular synovitis in a rare location: facial nerve on temporomandibular joint. A case report.

BACKGROUND: Pigmented villonodular synovitis (PVNS) is an infrequent benign tumor-like proliferative lesion developing from the synovial membranes of the joint, tendon sheath, and bursa. CLINICAL PRESENTATION: A 44-year-old woman with numbness on the right side of her face, severe headaches, and swelling in temporomandibular region is presented. On head and neck magnetic resonance imaging, an encapsulated mass approximately 2 cm was detected. The fine-needle aspiration biopsy resulted as suspicion of mesenchymal tumor. A complete resection with the capsule was performed over the temporal branch by monitoring of the facial nerve. The final histopathologic examination resulted as a giant cell tendon sheath tumor. CONCLUSION: Headache is not the main symptom in PVNS, but in severe pain spreading from the temporomandibular region, physical examination should be done carefully for slight swelling, and the possibility of pigmented villonodular synovitis should be considered. Because of the high recurrence rate, en bloc resection is necessary.

Glass Particles in the Nasal Cavity for 30 Years and Squamous Cell Carcinoma: Is There a Relationship?

Nasal cavity tumors constitute a very small part of head and neck malignancies. Although paranasal sinus tumors due to the presence of backward foreign bodies, neoplasms of nasal cavity associated with a foreign body are extremely rare. In this article, we presented a rare case of carcinoma in the right nasal cavity which includes glass particles inside it, and the role of glass particles in carcinogenesis was discussed. The patient was a 55-year-old male with history of a car accident 30 years ago. During right medial maxillectomy via a right lateral rhinotomy approach, three pieces of glass beads, approximately 0.5 cm in size, were removed from the inside of the mass. The patient had also under gone postoperative radiotherapy. No complication emerged during the postoperative recovery period. The patient had been followed up with no finding of local recurrence for 12 months.

The Role of Fusion Technique of Computed Tomography and Non-echo-planar Diffusion-weighted Imaging in the Evaluation of Surgical Cholesteatoma Localization.

Objective: In recent years, the fusion of computed tomography (CT) and non-echo-planar diffusion-weighted magnetic resonance imaging (non-EPI DWI) has been preferred in cholesteatoma localizations. This study aimed to investigate the role of CT and non-EPI DWI fusion imaging in cholesteatoma localizations. Methods: This retrospective study included 39 patients who underwent chronic otitis media operation [mean age of 35.10±15.33 years (18-67 years), 64.1% female, and 35.9% male] and had preoperative high-resolution temporal bone CT and non-EPI DWI examinations. Images were sent to the Advantage Workstation VolumeShare 7 for fusion. These selected images were fused on the workstation and were manually corrected by the radiologist. The sensitivity, specificity, positive and negative predictive values, and diagnostic accuracies of fused images of CT and non-EPI DWI were evaluated according to anatomic cholesteatoma localizations based on surgical data. Results: The sensitivity, specificity, positive and negative predictive values, and diagnostic accuracies of non-EPI DWI for detecting cholesteatomas were 97.14%, 75.00%, 97.14%, 75.00%, and 94.87%, respectively. Three true-negative, one false-positive, and one false-negative case were observed according to surgical results in detecting the presence of a cholesteatoma with non-EPI DWI. Moderate agreement was determined between the surgical and radiological results in detecting the presence of a cholesteatoma (k=0.721). Detecting the lesion of localization on the fused images compared to surgical found an almost perfect agreement in the mastoid antrum (k=0.948), strong agreement in the hypotympanum and mastoid cells (k=0.894), moderate agreement in the epitympanum (k=0.653), and weak agreement in those in the mesotympanum (k=0.540). Conclusions: The surgeons' determinations are supported by the guidance of temporal CT and non-EPI DWI fused images. Therefore, preferring the fusion imaging technique could increase the quality of life by reducing unnecessary operations.

Fine-Needle Aspiration Cytology of Salivary Gland Tumors Before the Milan System: Ten Years of Experience at a Tertiary Care Center in Turkey.

Objective: The role of fine-needle aspiration cytology (FNAC) is well established for preoperative evaluation of patients with salivary gland lesions. However, the lack of a uniform system for salivary gland FNAC has limited its effectiveness. In recent years, the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) has been in use around the world to report the cytology results. We aimed to investigate the efficacy and accuracy of FNAC examined according to pre-MSRSGC era dichotomous benign/malignant classification in salivary gland tumors. Methods: Patients who underwent surgery between January 2011 and December 2020 due to major salivary gland tumors were retrospectively analyzed. Two hundred and four patients were included in the analysis. Preoperative FNAC results and final histopatological diagnoses were grouped as benign or malignant. Final histopatological diagnoses were compared with the preoperative FNAC results. Also, sensitivity, specificity, and accuracy of the preoperative FNAC results, as well as the agreement between both tests were investigated. Results: The sensitivity, specificity, accuracy, positive and negative predictive values of the preoperative FNAC for the diagnosis of malignancy were 59.09%, 97.85%, 93.75%, 76.47%, and 95.29%, respectively. There was a moderate agreement between the preoperative FNAC results and final histopatological diagnoses. Conclusion: The accuracy of the preoperative FNAC and the information given about malignancy risk are the most important criteria for patient management and decision-making. The MSRSGC, which consists of a six-tiered classification rather than a dichotomous "yes/no" system, may contribute to patient management and decision-making by increasing the efficacy and accuracy of FNAC.

Comparative Columellar Scar Analysis Between W Incisions and Inverted-V Incision in Open Technique Nasal Surgery.

A visible scar on the columella is undesirable result for both patient and surgeon. So it is one of the major disadvantage of open nose surgery. Different columellar incision types have been used in open technique of nasal surgery. In this prospective study, we compare W incisions and inverted-V columellar incisions with a scar assessment scale. In this prospective randomized study, open nasal surgery (open rhinoplasty and open technique septoplasty) were performed on 93 patients between November 2009 and July 2012. The inverted-V incision was used on 31 patients (24 males, 7 females). The "W" incision was used on 62 patients (40 males, 22 females). The entire surgical procedure was performed by a single surgeon. The columellar incision was closed using 6-0 interrupted polypropylene sutures. All sutures were removed on the seventh postoperative day. Scars were assessed at 6 moths, with 3 items scar assessment scale, we observed satisfactory scar, pigmentation, and notching. We compared both groups and found that the scar pigmentation, notching and scar formation are similar to each other. As a result of this study we concluded that the inverted-V incision or "W" incision might be a similar choice in open nasal surgery.

Simultaneous Coexistence of Complications of Chronic Otitis Media in the Same Case.

Chronic otitis media (COM) is a common clinical entity, but the incidence of COM complications has declined recently due to broad use of antibiotics. Independent of this, these complications are still a significant challenge in otorhinolaryngology practice because of high morbidity and mortality rates. The most common etiologic diagnosis was cholesteatomatous COM. Simultaneous coexistence of complications of COM in the same case is a rare situation, and the present report describes a case with mastoiditis, Bezold abscess, lateral sinus thrombophlebitis, meningitis, and paraspinal abscess.

Effect of laryngopharyngeal reflux on the improvement of chronic rhinosinusitis without polyposis after primary endoscopic sinus surgery.

OBJECTIVES: This study aims to investigate the influence of laryngopharyngeal reflux on the improvement of chronic rhinosinusitis (CRS) in patients who underwent endoscopic sinus surgery (ESS). PATIENTS AND METHODS: A total of 48 patients (28 males, 20 females; mean age 41.6±15.1 years; range 18 to 75 years) with CRS without polyposis were assessed for the presence of gastric reflux with Reflux Symptom Index (RSI) and Reflux Finding Scores (RFS) before undergoing primary ESS. Patients with a RSI >12 and RFS >7 were included in the reflux(+) and those with either score under these cutoffs in the reflux(-) group. Improvement scores were accepted as the difference between preoperative scores and postoperative sixth-month Lund-Mackay Radiology Scores, Lund-Kennedy Endoscopy Scores (LKES), and Sinusitis Symptom Scores (SSS). RESULTS: There was no significant difference between improvements of the reflux(+) and reflux(-) groups in terms of radiology, endoscopy, and symptom scores (p>0.05). However, preoperative and postoperative six-month radiology scores were significantly higher in reflux(+) patients (p<0.01). Also, postoperative six-month LKES were significantly higher in reflux(+) patients. No statistically significant differences were detected between preoperative and postoperative six-month SSS in reflux(+) or reflux(-) patients. CONCLUSION: Laryngopharyngeal reflux was associated with worse radiology and endoscopy scores in CRS without polyposis; however, it had no role on the improvement scores after primary ESS.

Efficacy of multimodality approach to sudden hearing loss.

OBJECTIVES: This study aims to investigate whether addition of intratympanic steroid (ITS) to systemic steroid and hyperbaric oxygen (HBO) is effective in the treatment of sudden hearing loss (SHL). PATIENTS AND METHODS: Between January 2008 and October 2011, 58 patients diagnosed with SHL were enrolled in the study. Twenty patients (11 males, 9 females; mean age 45.3±21 years; range 24 to 66 years) who received systemic steroid and HBO composed group 1, while 38 patients (19 males, 19 females; mean age 41.6±16 years; range 25 to 61 years) who received ITS in addition to systemic steroid and HBO composed group 2. RESULTS: Post-treatment hearing improvement was statistically significant in both groups in terms of the mean pure tone according to the Siegel's criteria (p<0.05). Treatment was successful at 55% of patients in group 1 and 63% in group 2. Despite increased success rate with the addition of ITS, it did not indicate statistical significance (p>0.05). However, there was a strong statistically significant difference in terms of profound hearing loss over 90 dB (p<0.05). None of six patients (0%) with profound hearing loss in group 1 benefited treatment, while addition of ITS to the treatment yielded success in six of 12 patients with profound hearing loss (50%) in group 2 (p<0.05). CONCLUSION: Addition of ITS to systemic steroid and HBO treatment may yield better results in patients with SHL. However, ITS injection seems beneficial for patients with profound SHL.

Clinical outcome parameters for necrotizing otitis externa.

OBJECTIVE: To investigate the duration of time elapsed between the onset of symptoms for necrotizing external otitis (NEO) and admission to hospital that may play a role in patient outcome. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Fourteen consecutive male patients with NEO with no improvement from the previous course of antibiotherapy and with findings of osteomyelitis on temporal bone CT, MRI, and positive detection of Tc-99m methylene diphosphonate on temporal bone, admitted as inpatients between 2008 and 2012. INTERVENTION(S): Medical treatment of NEO and surgical debridement. MAIN OUTCOME MEASURE(S): Patients were divided into 2 groups according to median time elapsed between onset of symptoms and hospitalization (<30 d or >30 d). HbA1c, fasting blood sugar, erythrocyte sedimentation rate, C-reactive protein, pain intensity, radiologic grade, improvement since diagnosis, and total time to cure were compared according to the groups. The relationships between the laboratory data were analyzed to determine the parameters associated with time to recovery. RESULTS: Otalgia was significantly worse in patients who were admitted to hospital greater than 30 days after symptom onset (Mann-Whitney U test, p < 0.002). Blood glucose increased related to delayed admission time (p < 0.001). CRP results were independently elevated from the admission time (p < 0.112). There was a statistically significant difference between groups according to ESR levels and recovery time (Mann-Whitney U test, p < 0.004 and p < 0.01). There was a positive correlation between HbA1c levels and recovery time in Group 1 and between ESR levels and recovery time in Group 2 (r = 0.872, p = 0.044; r = 0.630, p = 0.039). CONCLUSION: Clinical, laboratory, and outcome data worsen later than 30 days in NEO.

Role of nasal packing in surgical outcome for chronic rhinosinusitis with polyposis.

OBJECTIVES/HYPOTHESIS: To analyze the differences between biodegradable and nondegradable nasal dressings with regard to their effects on wound healing in the short and medium term and on surgical outcomes in the long term, after endoscopic sinus surgery (ESS). STUDY DESIGN: A prospective, randomized, partly blinded, controlled trial. METHODS: A total of 56 patients undergoing bilateral ESS for chronic rhinosinusitis with polyposis were enrolled and randomized to receive biodegradable (Nasopore; Stryker, Hamilton, ON, Canada) on one side and nondegradable packing (Merocel; Medtronic Xomed, Minneapolis, MN) on the opposite side. Postoperative morbidities (pain, bleeding, facial edema, nasal blockage) related to dressings were assessed on postoperative day 6. Wound healing (edema, crusting, secretions, synechia, granulation tissue formation, and percentage re-epithelialization) were evaluated at 2 weeks, 1 month, 3 months, and 6 months using modified Lund-Kennedy scores. Long-term assessment at 12 months was done using validated Lund-Kennedy scores. RESULTS: Morbidities related to nondegradable packing were significantly higher than with degradable packing (Wilcoxon signed rank test, P<.01). Pain, bleeding, nasal blockage, and facial edema were significantly less with absorbable packing. No statistically significant difference was found between sinonasal cavities packed with biodegradable or nondegradable materials with regard to healing scores and percentage of re-epithelialization at 2 weeks, 1 month, 3 months, 6 months, and surgical outcomes at 1 year (P>.05). However, healing at 6 months was correlated with the preoperative Lund-Mackay radiology and surgery scores (Spearman's rho correlation test, P<.05 and P<.01, respectively). CONCLUSIONS: No significant healing or surgical outcome differences were found between biodegradable and nondegradable packing. However pain, bleeding, nasal blockage, and facial edema were lower with biodegradable packing. LEVEL OF EVIDENCE: 1b.

[The evaluation of the outcomes of nasal obstruction surgery by acoustic rhinometry measurements and effects of nasal obstruction on daytime sleepiness]. / Nazal obstrüksiyon cerrahi sonuçlarinin akustik rinometri ölçümleri ile degerlendirilmesi ve burun tikanikliginin gündüz uykululuk hali üzerine etkisi.

OBJECTIVES: In this study, we aimed to investigate the correlation between nasal obstruction findings of the patients who underwent nasal surgery, as assessed by analog scales for the patients and physician and acoustic rhinometry measurements and to establish the effect of nasal obstruction on daytime sleepiness. PATIENTS AND METHODS: Between August 2007 and September 2008, 55 patients (40 males, 15 females; mean age 30 years; range 15 to 56 years) who admitted with the complaint of nasal obstruction and underwent nasal surgery were included. Pre- and postoperative acoustic rhinometry measurements for both nasal cavities were performed. Nasal obstruction was graded by the analog scales for patients and physicians. Epworth Sleepiness Scale (ESS) was used for the evaluation of nasal obstruction on daytime sleepiness. RESULTS: In the preoperative period, a statistically significant correlation between the analog scales for the patients and physicians, and acoustic rhinometry values was found, while no statistically significant correlation was available in the postoperative period. A statistically significant correlation was also observed between pre- and postoperative analog scales for the patients and physicians. There was a statistically significant difference between the pre- and postoperative ESS scores. CONCLUSION: Acoustic rhinometry is a reliable method which provides objective data regarding the effects and outcomes of surgery. The analog scales are also useful to establish the degree of nasal obstruction. Nasal obstruction has an effect on increased complaints of daytime sleepiness.

[Evaluation of the duration of postoperative pain control obtained with bupivacaine injection into the tonsillar region in children who underwent tonsillectomy]. / Tonsillektomi yapilan çocuklarda tonsiller bölgeye bupivakain enjeksiyonu ile saglanan ameliyat sonrasi agri kontrolü süresinin degerlendirilmesi.

OBJECTIVES: In this study the effectiveness of postoperative pain control and its probable duration, in the group of pediatric tonsillectomy patients after peroperative application of long acting local anesthetic agent bupivacain to tonsillar fossa is searched. PATIENTS AND METHODS: Our study is a prospective, double-blind, case-control study. A total of 80 children consisting of 50 cases (24 girls, 26 boys; mean age 8.4 ± 2.1 years; range 6 to 12 years) and 30 controls (16 girls, 14 boys; mean age 8.1 ± 1.7 years; range 6 to 12 years) undergoing tonsillectomy were included in this study. Before tonsillectomy 2 ml (0.5 mg/ml) adrenaline-free bupivacain (Marcain, AstraZeneca) injected both of tonsillar fossa in study group, and normal saline injected with the same technique to control group. Face scale is used for pain measurement in both groups. Pain scores were measured at 2, 6, and 24 hours, seventh day and during the first oral intake postoperatively in both groups. RESULTS: We found a significant difference in postoperative second and sixth hours value, when compared control and study groups (p<0.001). No significant difference is found in postoperative 24th hours and first week between study and control group (p>0.001). In our study preincisional bupivacain infiltration makes significant reduction in postoperative pain according to placebo at postoperative second and sixth hours. In both groups at postoperative 24th hours and first week we ascertain significant pain reduction according to postoperative second and sixth hours, but no difference is found between study and control group. CONCLUSION: Intraoperative preincisional bupivacain injection is useful in postoperative pain control at early period of time in children undergoing tonsillectomy. But it has no effect in pain reduction after 24 hours.