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1.
Sci Rep ; 6: 31622, 2016 08 26.
Article in English | MEDLINE | ID: mdl-27562378

ABSTRACT

The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.


Subject(s)
Connexins/genetics , Deafness/genetics , Genetic Predisposition to Disease , Adolescent , Child , Child, Preschool , Cohort Studies , DNA Helicases/genetics , DNA-Binding Proteins/genetics , Exome , Female , Genetic Heterogeneity , Genetic Variation , Humans , Male , Microphthalmia-Associated Transcription Factor/genetics , Mutation , Neoplasm Proteins/genetics , Pedigree , Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics , SOXE Transcription Factors/genetics , Syndrome
2.
Dis Esophagus ; 29(1): 41-7, 2016 Jan.
Article in English | MEDLINE | ID: mdl-25515163

ABSTRACT

The loss of the best communication port after total laryngectomy surgery makes speech rehabilitation an important goal. Our aim was to improve the quality of esophageal speech (ES) using online esophageal multichannel intra-luminal impedance (MII) as a new biofeedback method. Twenty-six total laryngectomized patients were included. Before ES therapy, an esophageal motility test was carried out. MII catheters were placed in all subjects who were then randomized into two groups. Group 1 included 13 cases, who were retrained according to the classical method. Group 2 included 13 cases, who were retrained according to the simplified animation of air movements within the esophagus and upper stomach resulting from the modifications of intra-esophageal air kinetics gained by MII. The level of speech proficiency was evaluated relative to pretraining levels using perceptual scales in the third and sixth months. Acoustic voice was analyzed. The number of syllables read per minute and the intelligibility of monosyllabic and dissyllabic words were calculated. In this study, MII was used for the first time in alaryngeal speech rehabilitation as a biofeedback method; an overall sufficient speech level was achieved by 68.4% at the end of therapy, whereas attendance was 90%. A statistically significant improvement was found in both groups in terms of ES level compared with the pretraining period although there was no significant difference between groups. Although we did not observe the expected difference between groups suggested by our hypothesis, MII may be used as an objective tool to show patients how to swallow and regurgitate air during training, and may thus expedite ES therapy both for the speech therapist and the patient in the future.


Subject(s)
Laryngectomy/rehabilitation , Speech Therapy/methods , Speech, Esophageal , Aged , Biofeedback, Psychology/methods , Electric Impedance , Esophagus/physiopathology , Female , Humans , Laryngeal Neoplasms/surgery , Male , Middle Aged , Speech, Esophageal/instrumentation , Speech, Esophageal/methods , Speech, Esophageal/psychology , Treatment Outcome , Voice Training
3.
Dis Esophagus ; 28(2): 151-5, 2015.
Article in English | MEDLINE | ID: mdl-24612437

ABSTRACT

One method of speech rehabilitation following total laryngectomy surgery is esophageal speech therapy (EST). In this method, which has witnessed relatively low success rates at the end of therapy, identification of patients who can benefit from EST beforehand will be important for determining the appropriate method for alaryngeal speech rehabilitation and might be cost-effective, saving time and labor. To this end, this study conducted research on the feasibility of manometric data measured prior to therapy using an esophageal motility test (EMT) in order to determine the candidates most suitable for esophageal speech (ES) beforehand. A total of 51 total laryngectomy male patients who had never been subject to any kind of speech rehabilitation and had always been articulate were included in the study. Data were collected from 44 patients who completed EST, lasting for 6 months in total and consisting of 11 sessions. Manometric measures were obtained through EMT using a water-perfusion system with a Dent sleeve catheter on the patients prior to the therapy. Wepman's scale was used in order to evaluate ES proficiency. Following the therapy, in accordance with this scale, while patients whose scores was 1, 2, or 3 were considered as adequate, those whose scores were 4, 5, 6, or 7 were considered inadequate and were divided into two groups. Manometric correlations were analyzed between 17 patients (group I) who were able to perform ES at an adequate level and 27 patients (group II) who could not. No statistically significant difference between the groups could be observed in terms of average pressure generated within the upper and lower esophageal sphincters obtained through EMT, peak amplitude of esophageal body contraction pressure, contraction duration time, onset velocity, or peak velocity values. EMT conducted prior to application of EST to total laryngectomized patients did not have any value in determining the level of ES that a patient could reach. Our results also suggest that sphincter pressures or esophageal motility patterns do not have any predictive value and should not be performed.


Subject(s)
Esophagus/physiopathology , Laryngectomy/rehabilitation , Patient Selection , Peristalsis/physiology , Speech, Esophageal/methods , Adult , Aged , Esophageal Sphincter, Lower/physiopathology , Esophageal Sphincter, Upper/physiopathology , Feasibility Studies , Humans , Male , Manometry , Middle Aged , Predictive Value of Tests , Preoperative Care/methods , Prospective Studies
4.
Eur J Phys Rehabil Med ; 50(6): 657-63, 2014 Dec.
Article in English | MEDLINE | ID: mdl-24755774

ABSTRACT

BACKGROUND: Bilateral vestibular dysfunction causes serious disabilities and handicaps. Patients with bilateral dysfunction often restrict their activities and tend to be unsocial. AIM: To compare the effects of vestibular rehabilitation on disability, balance, and postural stability in patients with unilateral and bilateral vestibular dysfunction. DESIGN: Retrospective study. SETTING: Outpatient rehabilitation center. POPULATION: Patients with unilateral (group 1, N.=42) and bilateral vestibular dysfunction (group 2, N.=19). METHODS: All patients were evaluated before and after eight weeks of customized vestibular rehabilitation for disability (Dizziness Handicap Inventory [DHI], Activities-specific Balance Confidence Scale [ABC]), dynamic balance (Timed Up and Go Test [TUG], Dynamic Gait Index [DGI]), and postural stability (static posturography). RESULTS: The differences between DHI, TUG, DGI, and falling index (as assessed by static posturography) scores before and after the exercise program were statistically significant in both groups (P<0.05). There were no significant intergroup differences in any of the parameters evaluated (P>0.05). CONCLUSION: In this study, vestibular rehabilitation was found to be equally effective in unilateral and bilateral vestibular dysfunction patients for improving disability, dynamic balance, and postural stability. CLINICAL REHABILITATION IMPACT: Patients with bilateral dysfunction, causing more disability and greater handicap may indeed regain their functions as in patients with unilateral vestibular dysfunction by receiving appropriate and adequate vestibular rehabilitation.


Subject(s)
Activities of Daily Living , Dizziness/rehabilitation , Exercise Therapy/methods , Postural Balance/physiology , Sensation Disorders/rehabilitation , Vestibular Diseases/rehabilitation , Accidental Falls/prevention & control , Accidental Falls/statistics & numerical data , Comorbidity , Disability Evaluation , Dizziness/etiology , Female , Hearing Disorders , Humans , Male , Middle Aged , Migraine Disorders/epidemiology , Retrospective Studies , Sensation Disorders/etiology , Sickness Impact Profile , Turkey , Vestibular Diseases/complications , Vestibular Function Tests
5.
Int J Audiol ; 47(10): 615-20, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18923983

ABSTRACT

Tympanometry is a non-invasive, quick, and inexpensive method for examining the middle-ear function. Its limited value in differentiating otosclerotic from normal middle ears caused researchers to develop new methods for evaluation of middle ears. Resonant frequency had been found to be higher in otosclerotic middle ears than normals. We conducted multiple-frequency tympanometry measurements in 25 surgically confirmed otosclerotic ears and 100 normal ears. Mean middle-ear resonant frequency for the otosclerotic group was found to be 1190 Hz and mean middle-ear resonant frequency of the control group was 934.6 Hz (p<0.001). With a cut off value of 1025 Hz (based on 95% confidence interval), sensitivity was 80% and specificity was 82%. The present findings confirm the advantage of the resonant frequency estimation over conventional tympanometry in detecting middle-ear status and mechanics in patients with otosclerosis. As a conclusion, detecting resonant frequency when evaluating patients for otosclerosis must be an essential part of examination. Nevertheless, further investigation is necessary for better diagnosis of otosclerosis preoperatively.


Subject(s)
Acoustic Impedance Tests/methods , Ear, Middle/physiopathology , Otosclerosis/physiopathology , Sound Spectrography/methods , Adult , Audiometry/methods , Female , Humans , Male , Middle Aged , Otosclerosis/diagnosis , Pressure , Reference Values , Sound Localization , Young Adult
6.
Surg Endosc ; 21(4): 549-54, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17285394

ABSTRACT

BACKGROUND: This study aimed to report the need for an ear, nose, and throat (ENT) specialist to evaluate the laryngeal findings and the voice quality of patients with gastroesophageal reflux disease (GERD) and laryngopharyngeal reflux (LPR) symptoms before and after surgery. METHODS: For this study, 38 GERD patients who had a Reflux Symptom Index (RSI) score higher than 14 underwent complete assessment in the ENT department. Standard 24-h pH monitoring, esophageal motility assessment, a detailed ENT examination including the RSI, the Reflux Finding Score (RFS), and objective voice analysis were performed for all the patients before reflux surgery, then 6 to 8 months afterward. RESULTS: The subject's mean RSI scores were 25.45 +/- 7.5 before and 16.52 +/- 5.06 after surgery (p < 0.05), and the mean RFS scores were, respectively, 10.37 +/- 2.7 and 5.5 +/- 1.45 (p < 0.05). The pre- and postoperative differences in the RSI and RFS scores and the voice parameters were statistically significant. CONCLUSIONS: Objective voice analysis, RSI, and RFS can be used to evaluate the postoperative results for GERD patients with LPR symptoms. Examination of these patients by an ENT specialist is necessary before and after the operation.


Subject(s)
Fundoplication/adverse effects , Fundoplication/methods , Gastroesophageal Reflux/surgery , Laparoscopy/adverse effects , Laryngeal Diseases/etiology , Voice Quality , Acoustics , Adult , Case-Control Studies , Esophageal pH Monitoring , Esophagoscopy/adverse effects , Esophagoscopy/methods , Female , Follow-Up Studies , Gastroesophageal Reflux/diagnosis , Humans , Laparoscopy/methods , Laryngeal Diseases/physiopathology , Male , Manometry , Middle Aged , Postoperative Care/methods , Postoperative Complications/diagnosis , Preoperative Care/methods , Probability , Reference Values , Risk Assessment , Severity of Illness Index , Speech Acoustics , Treatment Outcome
7.
J Int Med Res ; 33(2): 188-95, 2005.
Article in English | MEDLINE | ID: mdl-15790130

ABSTRACT

We aimed to compare the effects of lidocaine and adrenaline with ibuprofen syrup (administered before adenotonsillectomy) on post-operative analgesia and initiation of oral feeding. One group of 20 children received 100 g/5 ml ibuprofen suspension (10 mg/kg) 1 h before anaesthesia; bleeding control was provided by pre-incisional administration of 1:200,000 adrenaline solution (10 ml). The same amount of 0.5% lidocaine solution plus 1:200,000 adrenaline was applied pre-incisionally in a similar manner in a second group of 20 children. No significant differences were observed between the two groups in terms of the duration of operation and anaesthesia, post-operative pain scores, paracetamol requirements, times to initiation of liquid and solid food intake, or adverse side-effects. We conclude that ibuprofen syrup applied pre-incisionally and local infiltration with lidocaine are equally effective for post-operative analgesia.


Subject(s)
Adenoidectomy/methods , Anesthetics, Local/administration & dosage , Ibuprofen/pharmacology , Lidocaine/pharmacology , Pain, Postoperative/prevention & control , Tonsillectomy/methods , Administration, Oral , Analgesia , Analgesics, Non-Narcotic/pharmacology , Child , Child, Preschool , Epinephrine/pharmacology , Female , Humans , Male , Pain , Time Factors
8.
Rev Laryngol Otol Rhinol (Bord) ; 123(4): 263-6, 2002.
Article in English | MEDLINE | ID: mdl-12723494

ABSTRACT

Autoclaving of the ossicles prior to ossiculoplasty is a very important procedure in surgery of cholesteatomatous chronic otitis media. Autoclaving allows the reuse of the ossicles removed from patients with cholesteatomatous chronic otitis media as an autograft. It also allows utilization of the malleus, incus and stapes taken from cadavers or of the uneroded malleus and incus removed from patients undergoing non-functional middle ear surgery chosen carefully with detailed history and laboratory analysis. The powerful disinfecting effect of the sterilising procedures of the homografts inactivates prion proteins which cause degenerative encephalopathies. In various studies, it has been concluded that autoclaving does not alter the matrix of the bone which is responsiable for its biophysical properties, whereas it removes all viable cells within the bone and dentures the soft tissue attached to the surface of the ossicle. We have also found confirming histological results in our two previous studies published in 1999 and 2001. It is usually recommended that soft tissue on the surface of the ossicles is removed before autoclaving. It is also sufficient to autoclave the ossicles at 134 degrees C, and at 2.5 atmosphere pressure for 5 minutes in a flash autoclave. The autoclaving time of the homograft ossicles must be longer, for 20 minutes. Following the autoclaving, these homograft ossicles should be kept at pH 5.6 for 3 days, then use a solution of 0.5% formaldehyde at pH 7 and 4 degrees C for 21 days and it should be washed with physiologic saline solution three times for 7 minutes before use. Depending on the results obtained from our planned comparative experimental study, there will be no need for additional formaldehyde fixation procedure after autoclaving and the autoclaved ossicles will be used immediately without preservation in formaldehyde solution for 24 days.


Subject(s)
Ear Ossicles/transplantation , Otitis Media/surgery , Postoperative Complications/prevention & control , Sterilization/methods , Cadaver , Ear Ossicles/microbiology , Hot Temperature , Humans , Hydrogen-Ion Concentration , Time Factors , Transplantation, Autologous
9.
Rev Laryngol Otol Rhinol (Bord) ; 122(3): 187-90, 2001.
Article in English | MEDLINE | ID: mdl-11799861

ABSTRACT

Intradural tumours affecting the clivus may be divided into three categories depending the area primarily involved by tumour. The second area extends from the spheno-occipital synchondrosis to the level of the jugular foramina. This area is best approached through the petrosal approach and suited for patients with serviceable hearing on the side of the lesion. 35 cases having skull base lesions were operated by the Skull Base Surgery Group of Ege University Medical Faculty between October 1993 and December 1997. 8 out of 35 cases having the intradural tumours affecting the petroclival and anterior cerebellopontine region, the petrosal presigmoid approach was performed in 4 patients. As hearing was absent in another 4 patients, the translabyrinthine route was coupled a the petrosal craniotomy (transtemporal approach). The aim of this article is to highlight the definitions, indications, hints and pitfalls of the approach from the otoneurological point of view.


Subject(s)
Brain Neoplasms/surgery , Glioma/surgery , Medulloblastoma/surgery , Meningeal Neoplasms/surgery , Meningioma/surgery , Plasmacytoma/surgery , Skull Base Neoplasms/surgery , Adolescent , Adult , Aged , Brain Stem/surgery , Cerebellar Neoplasms/surgery , Craniotomy , Deafness/complications , Dura Mater/surgery , Facial Nerve/physiology , Female , Hearing , Humans , Male , Middle Aged , Vestibulocochlear Nerve/physiology
10.
Int J Pediatr Otorhinolaryngol ; 54(1): 21-6, 2000 Aug 11.
Article in English | MEDLINE | ID: mdl-10960692

ABSTRACT

OBJECTIVE: Adenotonsillar hypertrophy causing upper airway obstruction may lead to the pulmonary hypertension and cor pulmonale. This study aimed to clarify the diagnostic methods of this complication, besides polysomnography, to find another objective criterion for surgical intervention and to demonstrate the curative effect of adenotonsillectomy on this complication using this objective criterion. METHODS: We studied the outcomes of 17 children with pulmonary hypertension secondary to the adenotonsillar hypertrophy. Pulmonary arterial pressure measurement was performed noninvasively by Doppler echocardiography. RESULTS: Mean preoperative pulmonary arterial pressure was 29.12+/-4.41 mmHg and decreased dramatically after relief of upper airway obstruction by adenoidectomy and/or tonsillectomy to the normal level of 12.06+/-3.09 mmHg. These results were analyzed by equal variances t-test and found very significant (P<0.01). Regarding the symptoms of upper respiratory obstruction, symptom scores of these children decreased very significantly and were analyzed by equal variances t-test (P<0. 01) in the postoperative period. For all the symptoms individually (snoring, mouth-breathing during sleep and daytime, hyponasal voice, restless sleeping, daytime somnolence, enuresis nocturna), comparing percentages of preoperative and postoperative symptoms by unequal variances t-test, we obtained very significant decrease (P<0.01). CONCLUSIONS: This study illustrates that Doppler echocardiography is a safe, practical and noninvasive-method in diagnosing cardiovascular disturbances--one of the complications of adenotonsillar hypertrophy and especially for measuring the pulmonary arterial pressure. All the symptoms and disorders due to the adenotonsillar hypertrophy may be reversible by performing early adeno- and/or tonsillectomy.


Subject(s)
Echocardiography, Doppler , Palatine Tonsil/pathology , Sleep Apnea Syndromes/diagnostic imaging , Adenoidectomy , Child , Child, Preschool , Female , Humans , Hypertrophy , Male , Palatine Tonsil/diagnostic imaging , Sleep Apnea Syndromes/etiology , Sleep Apnea Syndromes/surgery , Tonsillectomy
11.
Rev Laryngol Otol Rhinol (Bord) ; 120(2): 115-6, 1999.
Article in English | MEDLINE | ID: mdl-10444985

ABSTRACT

Spectral analysis of the human voice is a frequently used digital analysis method in the diagnosis, the planning and follow-up of the treatment of speech disorders. In the classical spectral analysis method, the principals of Joseph Fourier are used. This is called "Fourier Transform" and it accepts that all signals are formed of the synthesis of many sinusoïdal formed signals. In recent years a new transform method called "wavelet transform" accepts the complex signals formed of small signal particles called "wavelets" and it is considered that this transform will solve the documented problems of the "Fourier Transform". By using the appropriate wavelet, this transform can be used as an alternative to the Fourier transform. In this study, the patients with an articulation disorder of the "s" sound were evaluated before and after the phoniatric reeducation by using both the transform methods, and the results obtained are discussed.


Subject(s)
Articulation Disorders/diagnosis , Signal Processing, Computer-Assisted , Articulation Disorders/rehabilitation , Fourier Analysis , Humans , Phonation , Software
12.
Rev Laryngol Otol Rhinol (Bord) ; 114(2): 121-4, 1993.
Article in French | MEDLINE | ID: mdl-8284553

ABSTRACT

Due to 447 cases of sudden deafness followed up and treated during the last ten years in their clinic, the authors report the results of their treatment method composed of normovolemic hemodilution followed by fractional perfusion of vasodilators, corticosteroids and anticoagulants. Presenting overall examination of this population with audiological, vestibular, clinical, hematological and radiological findings, they insist on the need for emergency treatment and discuss the different aspects of this problem. They also present a global evaluation of the investigations performed on some patient groups. The most spectacular recoveries are obtained in cases who present earlier and who have a hearing loss of low frequencies.


Subject(s)
Hearing Loss, Sudden/therapy , Hemodilution/methods , Adolescent , Adrenal Cortex Hormones/therapeutic use , Adult , Aged , Anticoagulants/therapeutic use , Audiometry , Child , Child, Preschool , Female , Hematocrit , Humans , Male , Middle Aged , Vasodilator Agents/therapeutic use
13.
Rev Laryngol Otol Rhinol (Bord) ; 113(4): 365-7, 1992.
Article in English | MEDLINE | ID: mdl-1344556

ABSTRACT

This study was done at the ENT Department of the Ege University Medical Faculty on twenty trainee singers. Using the two-channel signal processing method, the electroglottographic (EGG) signals and the voice signals were digitized with an analog-digital converting card during an ascending and descending glissando exercised by the trainee singer. These signals were recorded on the computer's hard disk and the obtained data was analysed. It has been determined that the EGG signals were more irregular the singing formant of the voice signal was very weak or absent and the change of register was more significant in less trained singers. This method can be used to evaluate objectively the change of voice registers in the training of the singers and be easily performed by adding an analog-digital converting card to a PC computer, without the need of expensive modern devices.


Subject(s)
Music , Signal Processing, Computer-Assisted , Voice Training , Adolescent , Adult , Analog-Digital Conversion , Humans , Tongue/physiology
14.
Rev Laryngol Otol Rhinol (Bord) ; 112(1): 59-62, 1991.
Article in French | MEDLINE | ID: mdl-2052789

ABSTRACT

The arytenoidopexy operation has been performed in 15 cases of bilateral abductor paralysis of different causes. A tube on n. 6 for women and a tube of n. 6.5 for men has been used for the intratracheal general anesthesia without a tracheotomy. The microdissection of the arytenoid has been realised under the operation microscope. The fixation suture of the arytenoid has been passed with a special needle set prepared by the experimental studies on the laryngectomised pieces. The functional respiration result has been controlled by the pre and postoperative spirometry. The laryngeal spasm disappeared and very good respiratory functional results have been obtained in all cases. After a post-operative phoniatric reeducation, the voice was found to be good in most of the cases.


Subject(s)
Arytenoid Cartilage/surgery , Vocal Cord Paralysis/surgery , Adult , Aged , Female , Glottis , Humans , Male , Methods , Middle Aged , Postoperative Period
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