Abstract:
:A large American family has been mapped to the DFNA2 locus. However, mutation screening of CX31 and KCNQ4, the two genes associated with deafness at this locus, did not identify any mutations. The purpose of this report was to characterize the otologic and audiometric phenotype of this large American family with non-syndromic, autosomal-dominant sensorineural hereditary hearing impairment (HHI). Anamnestic data were obtained, pure-tone audiometry was performed and transient-evoked otoacoustic emissions were recorded. The findings in affected family members were compared to those in unaffected family members and to the respective p50 thresholds of the normal age-matched population. Mutational analysis of the CX26 gene was also performed. The affected members of this family demonstrated progressive symmetric sensorineural hearing impairment. The hearing loss was downward sloping, with mild-to-moderate loss in the low and mid frequencies and severe-to-profound loss in frequencies > 4,000 Hz. The onset of disease was predominantly in the first or early in the second decade. Hearing impairment progressed at approximately 1 dB per year across all frequencies. Transient-evoked otoacoustic emissions revealed a minimal response over all frequencies in affected members but robust responses in all unaffected members. Mutation in the CX26 gene was not present. The affected frequencies observed in this family were similar to those in the original family mapped to DFNA2; however, the age of onset of disease was different and the hearing loss progressed at a slower rate. Therefore, this family provides clinical evidence of genetic heterogeneity at the DFNA2 locus and can serve as a model for age-related hearing loss.
journal_name
Acta Otolaryngoljournal_title
Acta oto-laryngologicaauthors
Stern RE,Lalwani AKsubject
Has Abstractpub_date
2002-10-01 00:00:00pages
730-5issue
7eissn
0001-6489issn
1651-2251journal_volume
122pub_type
杂志文章abstract:OBJECTIVE:In order to facilitate surgery for spasmodic dysphonia, i.e. type 2 thyroplasty, a device was designed to fix the incised edges of the thyroid cartilage firmly. MATERIAL AND METHODS:Various types and sizes of titanium bridge were developed for clinical use. RESULTS:The results of surgery for spasmodic dysph...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480410016261
更新日期:2004-04-01 00:00:00
abstract::Spontaneous nystagmus and locomotor equilibrium function were repeatedly tested before and after unilateral labyrinthectomy in 12 squirrel monkeys in order to study the effect of physical exercise on the vestibulo-oculomotor and vestibulo-locomotor compensation. Post-operatively, 6 of the monkeys received forced physi...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016487509124676
更新日期:1975-03-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to compare the radiologic findings with histological results of anatomically matched whole organ sections and to analyze the accuracy of pretherapeutic radiologic staging of glottic cancers. METHODS:The histologic findings of surgical specimens of 30 patients who had undergone tota...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2011.562538
更新日期:2011-08-01 00:00:00
abstract::Little is known about the physiologic regulation of the vestibular end organ blood flow. The purpose of the current study was to examine posterior semicircular canal ampulla blood flow in addition to systemic factors during intravenous infusions of calcitonin-gene related peptide (CGRP), a factor involved in the tonic...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489709114207
更新日期:1997-11-01 00:00:00
abstract::The cochlea of the inner ear is no longer regarded exclusively as a passive mechanical signal analyser. Active mechanical processes are thought to influence the vibration pattern of the basilar membrane. The source of these active mechanical processes is sought in the outer hair cells (OHC). These auditory sensory cel...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488809119443
更新日期:1988-01-01 00:00:00
abstract:CONCLUSIONS:Congenital cytomegalovirus (CMV) infection is a major cause of bilateral and unilateral sensorineural hearing loss (SNHL) in children, accounting for 9.0% of SNHL cases. The diagnostic rate using combined genetic deafness test and CMV DNA detection test was determined to be 46.4% in bilateral profound SNHL....
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2011.583268
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Laryngeal squamous cell carcinoma (LSCC) is rare in the young. OBJECTIVES:We characterized the clinical behavior of LSCC and assessed the presentation of second primary tumors (SPCs) in this patient population. MATERIALS AND METHODS:Data from the Finnish Cancer Registry (FCR) were used to identify an epide...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016489.2018.1527037
更新日期:2019-01-01 00:00:00
abstract::There have been many morphological investigations on the generation of respiratory epithelium. However, the mucociliary activity of fetal respiratory epithelium has never yet been discussed. In the present work, ciliary activity and mucociliary function in the nose and the trachea of fetal rabbits were studied and, mo...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488409130999
更新日期:1984-03-01 00:00:00
abstract::In 82 patients with acute tonsillitis studied, beta-hemolytic group A streptococci were isolated from 30 (37%), and group C or G streptococci from 12 (15%). In the 40 patients with non-streptococcal tonsillitis there was a significantly higher isolation rate of pneumococci, H. influenzae and/or B. catarrhalis, as comp...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488709107339
更新日期:1987-09-01 00:00:00
abstract::We examined quantitatively the ventrodorsal gliding occurring along a sagittal plane in the cricothyroid articulation. For this purpose we used 10 fresh excised human larynges taken at autopsy. Furthermore we examined the morphology, the hydroxyproline content and collagen types of the ligaments and the articular caps...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488709134706
更新日期:1987-01-01 00:00:00
abstract::Specimens from the epithelium on the lateral wall of the human nose were examined under the electron microscope using a lipid and carbohydrate retaining method. In many of the ciliated epithelial cells and in some of the cells in the mucosal glands we identified multilamellated granules. These structures resembled lam...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489009107447
更新日期:1990-03-01 00:00:00
abstract::Spiral ganglia of guinea pig and mouse were investigated by scanning electron microscopy (SEM). The cochlea was freeze-fractured and then macerated with 0.1% OsO4 solution for 70-90 h (A-O-D-O method (1]. This allowed three-dimensional observation of the general view of the spiral ganglion and the intracellular struct...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488909127528
更新日期:1989-05-01 00:00:00
abstract:OBJECTIVE:We used ocular vestibular evoked myogenic potentials to investigate the relationship between residual dizziness and utricular function following the canalith repositioning procedure for benign paroxysmal positional vertigo. METHODS:Ocular vestibular evoked myogenic potentials were measured in 44 patients (40...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016489.2017.1347824
更新日期:2017-11-01 00:00:00
abstract::A study was performed to evaluate whether vascular reflex participates in mucosal swelling in nasal allergy, by measuring changes in mucosal swelling in both nasal cavities and changes in blood flow in the bilateral inferior turbinates caused by antigenic challenge in one inferior turbinate. On unilateral challenge, t...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488209128897
更新日期:1982-07-01 00:00:00
abstract:OBJECTIVE:To improve the efficacy of intratympanic therapy using perilymphatic entry through the round window membrane. MATERIAL AND METHODS:The perilymphatic entry characteristics of 2 neutral molecules, mannitol (182.2 Da) and inulin (7,000 Da), were studied. A polyethylene catheter was placed in contact with the gu...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480310001042
更新日期:2003-01-01 00:00:00
abstract::The expression of the intermediate filament subclasses cytokeratins (CKs), vimentin, and neurofilament triplet proteins (NFs) was analysed in the embryonic inner ear of the CBA/CBA mouse, in vivo and in vitro, using well-defined monoclonal antibodies. Some of the cultured inner ears were exposed to 1-10 micrograms/ml ...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489009107415
更新日期:1990-01-01 00:00:00
abstract::Beclomethasone dipropionate is a potent corticosteroid, which when applied by a pressurized metered dose aerosol in the airways has pronounced anti-allergic effects with no risk of systemic steroid side effects at the recommended dosage. An impressive effect in hay fever and perennial rhinitis has been demonstrated. A...
journal_title:Acta oto-laryngologica
pub_type: 临床试验,杂志文章
doi:10.3109/00016487609120897
更新日期:1976-09-01 00:00:00
abstract::Head and neck surgeons hesitate to resect the carotid artery because of the postoperative risk of neurologic sequelae. However, there is no curative therapeutic option for head and neck neoplasms involving the carotid artery, with the exception of complete tumor removal. To evaluate the benefits and risks of carotid r...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480260092417
更新日期:2002-07-01 00:00:00
abstract:CONCLUSIONS:Increased expression of Dicer may be a prognostic biomarker for patients with laryngeal squamous cell carcinoma (LSCC). OBJECTIVES:Recent studies have shown that many microRNAs (miRNAs) play an important role in the development and progression of human cancers. Dicer, one of the most important enzymes of t...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2014.920962
更新日期:2014-09-01 00:00:00
abstract::Frozen tissue sections of biopsies from head and neck squamous cancer lesions were examined for immunohistochemical staining with a recently developed monoclonal antibody, designated as SQM1 antibody and directed against the surface membrane of squamous carcinoma cells. SQM1 antibody stained selectively squamous carci...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488609108684
更新日期:1986-09-01 00:00:00
abstract:CONCLUSION:Bilateral electric acoustic stimulation (EAS) effectively improved speech perception in noise and sound localization in patients with high-frequency hearing loss. OBJECTIVE:To evaluate bilateral EAS efficacy of sound localization detection and speech perception in noise in two cases of high-frequency hearin...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2014.951453
更新日期:2015-02-01 00:00:00
abstract::Paclitaxel (Taxol) is an antimicrotubular agent which blocks the cells in the G2/M phase of the cell cycle. Because of this mechanism it is presumed that this drug could function as a radiation sensitizer. The cytotoxic and genotoxic effects of paclitaxel and a combination of paclitaxel and radiation were studied in t...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016489850154793
更新日期:1998-07-01 00:00:00
abstract::T lymphocytes from tonsil (To) and peripheral blood (PB) of 4 tonsillectomized children were subjected to clonal expansion with PHA in order to analyze at single cell level their cytolytic activity and their ability to produce interleukins such as IL-2, IFN-gamma and IL-4. Analyzing all T-cell clones (CD4+ and CD8+) o...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489109138439
更新日期:1991-01-01 00:00:00
abstract::Using electron microscopy and GABA immunohistochemistry we evaluated the effects on human embyronic organ of Corti tissue culture of exposure to the ototoxic aminoglycoside antibiotic neomycin at a dose of 1 mM for 48 to 96 hrs. Neomycin induces the formation of multilamellar myeloid structures. These lesions, found o...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489609137929
更新日期:1996-11-01 00:00:00
abstract::In consecutive series of 326 laryngeal cancer patients, of 29 (9%) with stage T3N0 glottic carcinomas, 23 achieved complete local remission after curative radiotherapy and form the basis of the present investigation. Flow cytometry determinations of DNA-ploidy status and the S-phase fraction, and a "histopathological ...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489309135796
更新日期:1993-03-01 00:00:00
abstract::Angioneurotic edema is a non-pitting edema which is usually limited to the skin and the mucous membranes of the face and upper aerodigestive tract. The risk of acute upper airway obstruction makes angioneurotic edema a concern for emergency room physicians, internists and otolaryngologists because prompt recognition o...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480310005129
更新日期:2003-10-01 00:00:00
abstract:CONCLUSIONS:This study showed that macrophages, B cells, and T cells occurred at different frequencies, localizations, and times after acute laser tympanic membrane perforation. Immunological cells were most prevalent in the proliferative mass adjacent to the annulus region. The cellular immunological response in fresh...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016480802669552
更新日期:2009-11-01 00:00:00
abstract:CONCLUSION:Our results show a significant difference between skin and cholesteatoma biology in vitro. OBJECTIVES:Cholesteatoma disease is a process of destruction characterized by uncontrolled growth of squamous epithelial cells in the middle ear or temporal bone. The pathophysiology behind the cholesteatoma developme...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016480903413657
更新日期:2010-07-01 00:00:00
abstract:CONCLUSION:This study described objective and subjective evaluations of the Nurotron® Venus™ Cochlear Implant System and indicated that this system produced a satisfactory performance. OBJECTIVE:To observe the performance of the Nurotron® Venus™ cochlear implant (CI) system via electrophysiological and psychophysical ...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2015.1086022
更新日期:2016-01-01 00:00:00
abstract::An analysis of auditory brainstem response (ABR) thresholds and ABR-based frequency tuning curves was performed in 15 Sprague-Dawley rats exposed to Haemophilus influenzae type b endotoxin; 5 microg/50 microl toxin was instilled every second day, altogether five times, into the middle ear cavity through a small perfor...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489709113406
更新日期:1997-05-01 00:00:00