Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

Autosomal dominant sensorineural hearing loss (ADSNHL) is a genetically heterogeneous disorder caused by pathogenic variants in various genes, including MYH14. However, the interpretation of pathogenicity for MYH14 variants remains a challenge due to incomplete penetrance and the lack of functional studies and large families. In this study, we performed exome sequencing in six unrelated families with ADSNHL and identified five MYH14 variants, including three novel variants. Two of the novel variants, c.571G > C (p.Asp191His) and c.571G > A (p.Asp191Asn), were classified as likely pathogenic using ACMG and Hearing Loss Expert panel guidelines. In silico modeling demonstrated that these variants, along with p.Gly1794Arg, can alter protein stability and interactions among neighboring molecules. Our findings suggest that MYH14 causative variants may be more contributory and emphasize the importance of considering this gene in patients with nonsyndromic mainly post-lingual severe form of hearing loss. However, further functional studies are needed to confirm the pathogenicity of these variants.

Evaluation of vestibular system with vHIT in industrial workers with noise-induced hearing loss.

PURPOSE: Industrial workers are frequently exposed to noise and the noise can cause hearing loss. The relationship between vestibular abnormalities and long-term exposure to occupational noise has been reported. The aim of this study was to use vHIT (video head impulse test) to evaluate the semicircular canal's function in industrial workers with noise-induced hearing loss. METHODS: In the present study, we included 36 male patients (aged 28-55 years, mean 44.4 ± 6.1 years) with hearing loss due to noise exposure from working in the steel and metal industry for at least 4 years, and a control group of 30 healthy men (aged 34-50 years, mean 41.1 ± 4.5 years) without hearing loss. The gain of the vestibulo-ocular reflex for all 6 semicircular canals was examined by vHIT in 66 patients. RESULTS: Canal deficit was detected in 20 (55.5%) of 36 patients in the noise exposure hearing loss group and was detected in 2 (6.6%) of 30 participants in the control group. There was significant loss of capacity for VOR gain in patients with noise exposure hearing loss. CONCLUSIONS: In the present study we found that exposure to noise can cause vestibular dysfunction. And the vHIT is easily applicable, quick and practical and can individually evaluate all semicircular channels. Therefore, to evaluate vestibular function with vHIT is quick and practical.

Evaluation of superior concha bullosa by computed tomography.

OBJECTIVE: Concha bullosa is generally regarded as pneumatisation of the middle turbinate in the nose. However, pneumatisation may also be seen in the superior and inferior turbinate. Computed tomography (CT) of paranasal sinuses is extremely helpful for the examination of this inaccessible area. Coronal CT sections of paranasal sinuses are particularly useful for surgical anatomy, as these images show nearly the same regions as the endoscopic examinations. The aim of this retrospective study was to evaluate the presence, incidence and unilaterality-bilaterality of superior turbinate pneumatisation and concomitant nasal pathologies. METHODS: A total of 1000 patients who underwent CT of the paranasal sinuses because of headaches, nasal obstructions, anosmia, facial pain or facial trauma were evaluated retrospectively. RESULTS: Among the 1000 patients, superior pneumatized turbinate was seen on CT images of the paranasal sinuses in 149 (14.9%) cases. Of these patients, 84 were female, 65 were male, and the mean age was 38.14 years. Among 149 patients, 58 patients had bilateral superior pneumatized turbinate and the remaining 91 patients had unilateral superior pneumatized turbinate. 60.4% of the patients with superior pneumatized turbinate also had middle pneumatized turbinate. CONCLUSION: The superior pneumatized turbinate is an anatomical variation with an incidence ranging from 12.2 to 50%. The present study revealed that there is no relationship between volume size of the superior pneumatized turbinates and sinusitis, nasal septum deviation and paradoxical middle concha. It is very important to define anatomical variations in the preoperative CT evaluation of the paranasal sinuses.

Aphthous Ulcer of the Vocal Cord Leading to Hoarseness.

Acute or chronic laryngitis, laryngeal trauma, vocal cord paralysis, cysts of the vocal cord, and benign or malignant tumors of the vocal folds are frequent causes of hoarseness. It is important to identify the cause of hoarseness to rule out potential malignancies. In this case report, we describe a patient with a bilateral aphthous ulcer in the vocal cords who was admitted with hoarseness and had been previously diagnosed with Behcet disease. Behcet disease is characterized by mucosal aphthous lesions, which are found primarily in oral and genital regions. To the best of our knowledge, this is the first instance of a patient with bilateral aphthous ulcer in the vocal cords.

The effect of memantine on functional recovery of the facial nerve after crush injury.

The objective of this study is to establish whether memantine is an alternative and effective treatment on facial nerve recovery after crush injury, and also to analyze the effective doses of this promising agent. This is a randomized controlled animal study. 40 rats underwent crush injury to left main trunk of the facial nerve, and divided into 4 groups; (1) control (saline treated), (2) 5-mg/kg memantine, (3) 10-mg/kg memantine, and (4) 20-mg/kg memantine group. Facial nerve functions were evaluated by eye reflex, and whisker movement compared to the unaffected side. They were scored on a 3-point scale. On day 28, the rats were sacrificed, and the facial nerves were dissected. The paraffin sections were studied with caspase-3 immunostaining. According to statistical data, the recovery in Group 4 began significantly earlier than the other groups on the basis of restoring eye blink reflexes and whisker movement. Groups 2 and 3 showed faster recovery than Group 1 on the basis of whisker movement. The caspase-3 positive staining was rarely detected in all groups. The Kruskal­Wallis test revealed that Group 4 showed fewer apoptotic cells than other groups; this was statistically significant. However, the Mann­Whitney U test with the Bonferroni correction did not reveal any significant difference between the groups. In conclusion, this study revealed that memantine acted to restore facial nerve functions, and accelerate recovery after facial nerve injury by inhibiting apoptosis.

[Sinonasal teratocarcinosarcoma]. / Sinonazal teratokarsinosarkom.

Sinonasal teratocarcinosarcoma is an extremely rare malignant neoplasm presenting with the characteristics of a malignant teratoma and carcinosarcoma. The most common sites of origin of teratocarcinosarcomas are the nasal cavity and paranasal sinuses. The clinical presentation is usually with nasal obstruction and episodes of epistaxis. Teratocarcinosarcomas are aggressive and rapidly growing tumors with a poor prognosis. The incidence of sinonasal teratocarcinomas is higher in men than women. Treatment is primarily surgery, followed by radiotherapy. In this article, we report a 46-year-old male case of sinonasal teratocarcinosarcoma who was admitted with complaints of pain and swelling around the right eye and treated surgically followed by radiotherapy.

[Bilateral inverted papilloma originating from the frontal sinus]. / Iki tarafli frontal sinüs kaynakli inverted papillom.

Inverted papilloma is a benign neoplasm characterized by its high rate of recurrence, local aggressiveness, and malignancy potential. Nasal obstruction is the most frequent presenting complaint. Bilateral inverted papillom involving both sides of the frontal sinus is extremely rare. Herein, we present a 64-year-old male case with a bilateral inverted papilloma involving the frontal sinus which was removed by an endoscopic surgery.

Bilateral sudden sensorineural hearing loss caused by leptomeningeal carcinomatosis: case report and review.

Leptomeningeal carcinomatosis is a rare condition characterized by diffuse infiltration of the meninges after the metastasis of the solid tumors. Bilateral sudden hearing loss is a rare initial symptom. In this article, we report a 44-year-old male patient with bilateral sudden hearing loss and dizziness. Magnetic resonance imaging showed involvement of the bilateral vestibulocochlear nerves. Malignant cells were detected in cerebrospinal fluid cytology. To the best of our knowledge, leptomeningeal carcinomatosis due to duodenum adenocarcinoma has not been reported before in the English literature. Leptomeningeal carcinomatosis should be kept in mind in patients who have bilateral sudden sensorineural hearing loss.

Meningioma arising from the anterior skull base and filling the nasal cavity.

Meningiomas are usually benign tumors that are frequently encountered in the intracranial region. They account for 15% of the overall intracranial tumors. Of the intracranial meningiomas, less than 3% extend up to the sinonasal region. The frequency of meningioma in females is 2 times higher than that in males; it is most commonly observed in the fifth decade of life. It is usually asymptomatic and detected incidentally. A small number of meningiomas may cause some symptoms including seizure attacks and cranial nerve paralysis according to their locations. On the physical examination of a 56-year-old woman, who presented with nasal obstruction, a mass that completely obliterated the left nasal passage was detected. An incisional biopsy finding of the mass revealed meningioma, and the patient was hospitalized in the clinic for surgical procedure. The mass was excised by endonasal endoscopic method. In this present article, we aimed to discuss a quite rare case, which had meningioma arising from the anterior skull base and completely obliterating the left nasal passage with the coexistence of right nasal polyp, in the light of the current literature.

[Juvenile angiofibroma originating from the sphenoid sinus: a case report]. / Sfenoid sinüs kaynakli juvenil anjiyofibrom: Olgu sunumu.

Angiofibromas are histologically benign, but unencapsulated and highly vascular tumors with a potential of local destructive effect. Angiofibromas predominantly originate from the posterolateral wall of the nasopharynx. Extranasopharyngeal angiofibromas are extremely rare and mostly seen in maxillary sinus and ethmoid sinus. In this article, we report a 21-year-old male case who was admitted with headache and diagnosed with an angiofibroma originating from the sphenoid sinus.

[Endoscopic management of cerebrospinal fluid fistulas and clinic outcomes]. / Beyin omurilik sivisi fistüllerine endoskopik yaklasim ve klinik sonuçlari

OBJECTIVES: This study aims to evaluate the efficacy of endoscopic repair of cerebrospinal fluid (CSF) fistulas. PATIENTS AND METHODS: Between January 2005 and December 2012, 10 patients (7 females, 3 males; mean age 36.1 years; range 1 to 52 years) who were diagnosed with CSF fistulas in Kocaeli University, Faculty of Medicine, Ear Nose and Throat Clinic were retrospectively analyzed. Complaints of the patients on admission and the characteristics of CSF fistulas (etiology, location, and stage) were recorded. Treatment modalities based on the characteristics of CSF fistulas and treatment outcomes were analyzed. RESULTS: The etiology of the fistula was encephalocele in six, iatrogenic trauma following functional endoscopic sinus surgery (FESS) in three, and spontaneous CSF rhinorrhea in one patient. The mean follow-up was 32.4 months (range, 12 to 84 months) postoperatively. None of the patients had recurrent disease. CONCLUSION: The endoscopic surgery is an effective modality with low morbidity and high success rate in the management of CSF fistulas.

Effect of vibration on the vestibular system in noisy and noise-free environments in heavy industry.

Background: Chronic exposure to whole body vibration can affect the gastrointestinal system, the lumbar spine, the peripheral veins and the vestibulocochlear system. Aims/Objectives: The aim of this study was to evaluate the effects of vibration on the vestibular system in noisy and noise-free environments using the video head impulse test (vHIT). Material and Methods: A total of 138 employees were included in this study. Group 1 were exposed to vibration and noise. Group 2 only exposed to vibration, with no exposure to noise. Group 3 were not exposed to noise or vibration. Results: Canal deficit was observed in 41 of 84 participants in Group 1, 7 of 24 participants in Group 2, and 1 of 30 participants in Group 3. There were more canal deficits in Group 1 and Group 2, than in Group 3 (p < .05). There was no significant difference between Group 1 and Group 2 in terms of canal deficits (p > 0.05). Conclusions and Significance: Semicircular canal deficit can be seen with the synergistic effect of noise and vibration.

Vestibular functions in patients with tinnitus only.

OBJECTIVE: Tinnitus is the perception of sound in the ears or head without any external or internal acoustic stimulation, and it is usually associated with hearing loss. In addition, it has been reported that there is a relationship between vestibular problems and sensorineural hearing loss. The aim of this study was to evaluate the vestibular function in patients with tinnitus without hearing loss. METHODS: A total of 32 patients who complained only of tinnitus without hearing loss and 30 control subjects without tinnitus or hearing loss were included in this study. Oculomotor and caloric tests were performed on all subjects with videonystagmography. The tinnitus handicap inventory questionnaire, side and duration of tinnitus were recorded in all patients. RESULTS: The caloric test was abnormal in 13 of 32 (40.6%) patients in the tinnitus group and was normal in all of the control group. Abnormal caloric responses in patients with severe tinnitus were more frequent than in patients with mild or moderate tinnitus. There was a statistically significant difference in the optokinetic gain values between the tinnitus and control groups. CONCLUSION: A relationship between tinnitus and abnormal caloric responses was determined. Tinnitus may be the first symptom of vestibular dysfunction.

Advanced Otosclerosis: Stapes Surgery or Cochlear Implantation?

Diagnosis and treatment of advanced otosclerosis can be controversial. In 1961, House and Sheehy defined advanced otosclerosis as hearing loss in air conduction threshold by 85 dB with nonmeasurable bone conduction. Recently, the definition of advanced otosclerosis is mostly based on the decrease of speech recognition. There are some treatment modalities: stapes surgery and hearing aids, cochlear implantation, or direct acoustic cochlear implant. The authors propose a new algorithm for treatment. If the patient is treated with cochlear implantation, the surgeon should be cautious for facial nerve stimulation after surgery because it is the most prevalent complication.

l-N-acetylcysteine protects outer hair cells against TNFα initiated ototoxicity in vitro.

OBJECTIVE: The present study is aimed at determining the efficacy and exploring the mechanisms by which l-N-acetylcysteine (l-NAC) provides protection against tumor necrosis factor-alpha (TNFα)-induced oxidative stress damage and hair cell loss in 3-day-old rat organ of Corti (OC) explants. Previous work has demonstrated a high level of oxidative stress in TNFα-challenged OC explants. TNFα can potentially play a significant role in hair cell loss following an insult to the inner ear. l-NAC has shown to provide effective protection against noise-induced hearing loss in laboratory animals but mechanisms of this otoprotective effect are not well-defined. DESIGN: Rat OC explants were exposed to either: (1) saline control (N = 12); (2) TNFα (2 µg/ml, N = 12); (3) TNFα+l-NAC (5 mM, N = 12); (4) TNFα+l-NAC (10 mM, N = 12); or (5) l-NAC (10 mM, N = 12). Outer hair cell (OHC) density, levels of reactive oxygen species (ROS), lipid peroxidation of cell membranes, gluthathione activity, and mitochondrial viability were assayed. RESULTS: l-NAC (5 and 10 mM) provided protection for OHCs from ototoxic level of TNFα in OC explants. Groups treated with TNFα+l-NAC (5 mM) showed a highly significant reduction of both ROS (p < 0.01) and 4-hydroxy-2-nonenal immunostaining (p < 0.001) compared to TNFα-challenged explants. Total glutathione levels were low in TNFα-challenged explants compared to control and TNFα+l-NAC (5 mM) treated explants (p < 0.001). CONCLUSIONS: l-NAC is a promising treatment for protecting auditory HCs from TNFα-induced oxidative stress and subsequent loss via programmed cell death.

Clinical, surgical, and electrical factors impacting residual hearing in cochlear implant surgery.

CONCLUSIONS: This study recommends using soft surgical principal and round window insertion to protect residual hearing with favorable anatomical exposure. Further studies are needed to evaluate the impact of the electrical stimulation on the organ of corti and hearing. OBJECTIVE: The objective of this study is to analyze various factors that impact on preservation of residual hearing post-implantation. METHODS: A retrospective study was performed to analyze loss of residual hearing in a cohort of 225 patients implanted in a large academic center. Sixty-four patients met the inclusion criteria. The impact of age at implantation, gender, etiology of hearing loss, cochleostomy vs round window insertion, partial vs full insertion, and effect of initial stimulation were analyzed using appropriate statistical analysis. RESULTS: The overall hearing preservation rate for all implanted patients was 64%. Loss of residual hearing was significantly more observed in cases of cochleostomy and/or non-soft surgical techniques. No correlation was observed with age at implantation, gender, side of implant, device manufacturer, and presence of pre-lingual deafness vs post-lingual, full or partial electrode insertion. In addition, there was a small but significant decrease in hearing between pre-stimulation and post-stimulation audiograms at 6000 Hz.

Retrospective analysis of surgical treatment of choanal polyps.

OBJECTIVES: This study aims to discuss the efficacy of the surgical method performed in patients with choanal polyp in the light of the literature. PATIENTS AND METHODS: The study included 76 patients (42 males, 34 females; mean age 25.36 years; range 7 to 73 years) diagnosed with choanal polyp in the sinonasal region between January 2005 and December 2013 in the otorhinolaryngology clinic of Kocaeli University. Age, sex, and presenting complaints of the patients, as well as the characteristics of the polyps (localization, direction) were retrospectively investigated. RESULTS: The majority (98.68%) of the patients with choanal polyp presented with nasal obstruction, followed by snoring, sleeping with the mouth open (25.0%), and nasal discharge (21.05%). According to their localizations, the origin of the polyps was the maxillary sinus in 65 patients, sphenoid sinus in six patients, middle turbinate in two patients, septum in two patients, and ethmoid sinus in one patient. CONCLUSION: Endoscopic approach is a safe and effective procedure for choanal polyp treatment. There was no significant difference between the success rates of the endoscopic approach and combined approaches.

The effect of alprazolam on acoustic stapedius reflex thresholds in healthy volunteers.

Alprazolam, a widely used drug, has widespread, nonspecific depressant effects on the central nervous system, similar to other benzodiazepines. This inhibitor effect may cause changes in reflex thresholds by affecting the acoustic stapedial reflex (ASR) arc. This study was performed on 31 healthy volunteers. Initially, the basal ASR thresholds were measured and measured again 2 h after oral intake of 1 mg of alprazolam; by measuring the reflex thresholds once again the mean values of thresholds before and after the drug were compared. Only the left ipsilateral and contralateral 2,000 Hz increases were significantly different. The left ipsilateral and contralateral 500, 1000, and 4000 Hz, and the right ipsilateral and contralateral 500, 1000, 2000, and 4000 Hz measurements showed no differences. Although an increase in ART thresholds was generally observed after the intake of alprazolam, it was not significant. Its use in healthy adults does not statistically produce an additional risk of acoustic trauma at most of the frequencies, but its use with the agents potentiating the effect of alprazolam may increase this risk.

Fibrolipoma of the nasal septum; report of the first case.

BACKGROUND/OBJECTIVE: Fibrolipomas are a rare subtype of lipomas and very rare in the oral and maxillofacial region. Lipomas affecting the central nervous system are even more infrequent occurring with a frequency of 0.1%. STUDY DESIGN, METHODS: Case report. CASE PRESENTATION: This report includes a patient who had a nasal septal fibrolipoma and an accompanying corpus callosum lipoma. CONCLUSIONS: To our knowledge, this is the first reported nasal septal fibrolipoma case in the literature. The diagnostic and surgical features of this case and the unity of septal fibrolipoma and intracranial lipomas are discussed.