Abstract:
CONCLUSION:Alterations within a novel putative Exon 1a within the gap junction beta 2 (GJB2) gene may play a role in the development of genetic hearing impairment in Austria. OBJECTIVES:Mutations in the GJB2 gene are the most common cause of hereditary sensorineural deafness. Genome-wide screening for alternative transcriptional start sites in the human genome has revealed the presence of an additional GJB2 exon (E1a). This study tested the hypothesis of whether alternative GJB2 transcription involving E1a may play a role in the development of congenital sensorineural deafness in Austria. METHODS:GJB2 E1a and flanking regions were sequenced in randomized normal hearing control subjects and three different patient groups with non-syndromic hearing impairment (NSHI), and bioinformatic analysis was performed. Statistical analysis of disease association was carried out using the Cochran-Armitage test for trend. RESULTS:A single change 2410 bp proximal to the translational start site (c.-2410T > C, rs7994748, NM_004004.5:c.-23 + 792T > C) was found to be significantly associated with the common c.35delG GJB2 mutation (p = .009). c.35delG in combination with c.-2410CC occurred at a 6.9-fold increased frequency compared to the control group. Additionally, one patient with idiopathic congenital hearing loss was found to be homozygous c.-2410CC.
journal_name
Acta Otolaryngoljournal_title
Acta oto-laryngologicaauthors
Parzefall T,Lucas T,Koenighofer M,Ramsebner R,Frohne A,Czeiger S,Baumgartner WD,Schoefer C,Gstoettner W,Frei Kdoi
10.1080/00016489.2016.1249946subject
Has Abstractpub_date
2017-04-01 00:00:00pages
356-360issue
4eissn
0001-6489issn
1651-2251journal_volume
137pub_type
杂志文章abstract:CONCLUSION:Systemic application of human mesenchymal stem cells (hMSCs) may be another effective tool for stem cell supply to the inner ear. OBJECTIVES:Most researchers have used local application to provide the inner ear with stem cells. In spite of their efficacy, these methods can potentially cause irreversible dam...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2012.660731
更新日期:2012-06-01 00:00:00
abstract:CONCLUSION:Otolith organs input influences the axis of horizontal semicircular canal ocular reflex; therefore, the plane of compensatory eye movements induced by the horizontal canal stimulation is not always parallel to the canal. OBJECTIVE:To clarify whether horizontal canal ocular reflex is influenced by otolith or...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2012.656286
更新日期:2012-07-01 00:00:00
abstract::An oral dose of 400 mg enoxacin was given to each of 19 patients with long-standing secretory otitis media (SOM). A total of 27 samples of middle ear effusion (MEE) and blood were collected at different intervals during a 6-h period after administration of the drug. The concentration of enoxacin in MEE and serum was d...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489009125166
更新日期:1990-05-01 00:00:00
abstract:CONCLUSION:Cochlear implantation is a safe procedure in experienced hands, as the rate of severe complications is below 2%. Complications differ between children and adults, and transient disequilibrium/vertigo is the most common complication, followed by wound infection, haematoma/oedema and transient chorda tympani s...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016480903358261
更新日期:2010-05-01 00:00:00
abstract::Beta 2-microglobulin (beta 2m) is a small polypeptide, related to the immunoglobulins and present on nucleated cells as part of the strong transplantation antigens. Elevated plasma levels have been recorded in patients with various malignant diseases. Human beta 2m has also been detected immunohistochemically in carci...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488409107571
更新日期:1984-09-01 00:00:00
abstract::The present study further assessed the role of the endolymphatic sac (E.S.) in the generation of inner ear immune responses. Guinea pigs underwent unilateral endolymphatic sac obliteration (Rt) and the opposite ears (Lt) served as controls. The animals were then systemi-cally sensitized to KLII and both inner ears wer...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488709107782
更新日期:1987-05-01 00:00:00
abstract::Localization of elements at the cellular and sub-cellular levels was performed with the energy dispersive X-ray microanalysis technique, using shock-frozen, freeze-dried and araldite-embedded mouse (CBA/CBA) cochleae sectioned dry. Anatomical identification occurred in the STEM (scanning transmission electron microsco...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488409107585
更新日期:1984-11-01 00:00:00
abstract::Forty-three consecutive patients with peripheral facial palsy were examined to evaluate the incidence of facial palsy caused by the tick-borne Borrelia spirochete in a non-coastal area in the south of Sweden. Six (14%) of the patients were found to have a Borrelia infection. The incidence of Borrelia-induced facial pa...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016488909125548
更新日期:1989-11-01 00:00:00
abstract::Sigmoid sinus diverticulum-induced pulsatile tinnitus is a rare medical problem. Here we report a case where pulsatile tinnitus occurred in the perimenopause with evidence of sigmoid sinus diverticulum. The tinnitus disappeared with the restoration of hearing after surgery. While diagnosis is critical for the treatmen...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2011.567998
更新日期:2011-08-01 00:00:00
abstract:CONCLUSIONS:Thorough otomicroscopical examination of the tympanic membrane in acute otitis media (AOM) might distinguish AOM episodes caused by different bacteria. It thus might be a way to select appropriate treatment for each patient without raising the number of dangerous complications. OBJECTIVES:The aim of this s...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480601091719
更新日期:2007-09-01 00:00:00
abstract::Laryngeal paragangliomas are rare submucosal lesions that arise from paraganglion cells located in the false vocal fold and subglottic larynx. To date, 76 recognized cases have been reported in the world literature. Symptoms arise when the lesions become large enough to impair function. Supraglottic paragangliomas cau...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章,评审
doi:10.1080/00016480410017576
更新日期:2004-11-01 00:00:00
abstract::Following responses to constant velocity and sinusoidally oscillating movements of the whole visual environment were examined in normal subjects wearing blinkers to obscure central vision or subjected to a photo flash to induce a central scotoma, in patients with central scotomas of pathological origin and in one pati...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016487909126455
更新日期:1979-05-01 00:00:00
abstract:CONCLUSIONS:The risk factors for methicillin-resistant Staphylococcus aureus (MRSA) detection in head and neck cancer patients are the duration of hospitalization, intravenous hyperalimentation, prior antibiotic use, and the coexistence of other pathogens. OBJECTIVES:To shed light on the clinical characteristics of MR...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480600750018
更新日期:2007-02-01 00:00:00
abstract:CONCLUSION:Compared with normal-weight individuals, obese young adults exhibited a significantly higher taste threshold for salty taste. Smoking also affected taste functions in this population. OBJECTIVE:The aim of this study was to investigate the differences in taste detection thresholds between normal-weight and o...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2014.975370
更新日期:2015-05-01 00:00:00
abstract:CONCLUSIONS:Sensorineural hearing loss must be considered within the clinical picture of systemic lupus erythematosus. The results confirm the usefulness of extended high-frequency audiometry in the audiologic testing of these patients, enabling the possibility of modifying or applying a preventive treatment for a poss...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016489.2016.1219049
更新日期:2017-02-01 00:00:00
abstract::The input from fore- and hindlimbs to the vestibular nuclear complex (VNC) was investigated in awake cats. Electrical stimulus was given to the sciatic, radial and vestibular nerves bilaterally and single unit responses were recorded in the VNC with extracellular technique. The position of the microelectrode was histo...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016487909126395
更新日期:1979-01-01 00:00:00
abstract:CONCLUSION:Results from a database for sudden sensorineural hearing loss (SSNHL) demonstrate no correlation between laboratory findings, treatment, and outcome in 400 patients. The patients with pathological test results were not treated differently from those with normal test results. The value of laboratory findings ...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480903161541
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:Tinnitus treatments present a quandary for clinicians, but no thoroughly satisfactory medical treatments are offered to tinnitus patients. OBJECTIVE:We compared sound therapy effects of the broad band noise (BBN) and the mixed pure tones on tinnitus patients with normal to mild hearing loss, and the possibl...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章,随机对照试验
doi:10.1080/00016489.2019.1575522
更新日期:2019-03-01 00:00:00
abstract:CONCLUSIONS:Protocol limitations were identified and accounted for in the analysis. Percent gradient equilibrated (PGE) was affected by driving gradient direction in a similar manner to other efficiency measures. A finer resolution of possible age-related changes in eustachian tube opening efficiency is expected with t...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2014.882017
更新日期:2014-06-01 00:00:00
abstract:CONCLUSIONS:Codeine shows a similar association with profound deafness to other opiates. Good cochlear implant outcomes suggest a sensory disorder. Although macrocytosis could be due to confounding factors, the lack of other consistent findings may signify a vascular pathology. OBJECTIVES:To describe a series of patie...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480802579082
更新日期:2009-10-01 00:00:00
abstract::Background: In clinical experience patients who do not frequently check the cochlear implant (CI) maps have poor auditory performance and poor acceptance of map variations over time.Aims: The aim of the present study was to evaluate the effect of CI map optimization on both speech perception and subjective hearing in ...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016489.2019.1700303
更新日期:2020-02-01 00:00:00
abstract:CONCLUSION:The incidence of new cases of Meniere's disease (MD) in elderly patients aged 60 years or more was found to have increased over time after correction for age distribution in the overall population. Job- and care-related fatigue may be involved in the recent increase in elderly-onset cases because physical an...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章,多中心研究
doi:10.1080/00016480802112587
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVE:To evaluate the capability of indirect computed tomography and magnetic resonance lymphography (CT/MR-LG) with gadolinium-loaded, polyethylenimine-entrapped gold nanoprobes (Gd-Au PENPs) for assessing lingual sentinel lymph node (SLN) metastasis in a tongue VX2 carcinoma model. MATERIALS AND METHODS:Seventee...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016489.2018.1441544
更新日期:2018-08-01 00:00:00
abstract::Three hundred and fifty-four patients with squamous cell carcinoma of the oral cavity, oropharynx, supraglottic larynx, hypopharynx or maxillary sinus have been randomized for preoperative radiation therapy and surgery versus surgery and postoperative radiation therapy plus, in the case of patients with lesions of the...
journal_title:Acta oto-laryngologica
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/00016488109138548
更新日期:1981-05-01 00:00:00
abstract:CONCLUSION:Endolymphatic hydrops could be a reversible inner ear pathological condition. After sac surgery, hydrops was reduced and symptoms went into remission in some cases, although vertigo suppression was not always a result of the reduced hydrops. OBJECTIVE:To examine the changes in endolymphatic hydrops detected...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2013.795290
更新日期:2013-09-01 00:00:00
abstract:CONCLUSION:Cochleostomy is the most efficient approach in delivering PEG-b-PCL polymersomes (PMs) to the inner ear. PMs can be delivered to the vestibule by transtympanic injection or cochleostomy. OBJECTIVE:To evaluate the efficiency of delivering PEG-b-PCL PMs into the inner ear using different approaches. METHODS:...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2011.615066
更新日期:2011-12-01 00:00:00
abstract:CONCLUSION:Although this study did not show higher risk of oropharyngeal malignancy in HIV patients overall, they still had much higher prevalence of NHL as well as HL than HIV negative patients. Presence of cervical lymphadenopathy is unreliable in differentiating malignant oropharyngeal tumours from benign lymphoid h...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489.2016.1170878
更新日期:2016-09-01 00:00:00
abstract::Experimental animals (cats) were exposed to tones of 125, 1000, 2000, and 4000 Hz at sound pressure levels in the range 120 to 157.5 dB, and for durations of one hour (1000, 2000, 4000 Hz) or four hours (125 Hz). Pure tone audiograms were obtained for each animal before and after exposure. Post-exposure tests were con...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016487509121336
更新日期:1975-11-01 00:00:00
abstract:CONCLUSION:Nuclear expression of survivin should be studied as a promising marker of higher-risk laryngeal basaloid squamous cell carcinomas (BSCCs), which can then be treated more aggressively and followed more closely. OBJECTIVE:BSCC is an uncommon bimorphic variant of SCC. The hypothesized greater aggressiveness an...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.1080/00016480500266685
更新日期:2006-02-01 00:00:00
abstract::During the course of a chronic intracochlear electrical stimulation study using charge balanced biphasic current pulses, one animal inadvertently received a short period of direct current (DC) stimulation at a level of approximately 1 microA. Subsequent, the animal was chronically stimulated using a poorly charge bala...
journal_title:Acta oto-laryngologica
pub_type: 杂志文章
doi:10.3109/00016489109138421
更新日期:1991-01-01 00:00:00