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https://www.readbyqxmd.com/read/29130651/further-delineation-of-the-gdf6-related-multiple-synostoses-syndrome
#1
Paulien A Terhal, Nienke E Verbeek, Nine Knoers, Rutger J A J Nievelstein, Ans van den Ouweland, Ralph J Sakkers, Lucienne Speleman, Gijs van Haaften
A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones, at least 6 of 10 affected patients in this family have been diagnosed with mild to moderate hearing loss. In four of them otosclerosis was said to be present, one patient had hearing loss due to severe stapes fixation at the age of 6 years, providing evidence that hearing loss in the GDF6-related multiple synostoses syndrome can be present in childhood...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29116384/living-with-otosclerosis-disease-specific-health-related-quality-of-life-measurement-in-patients-undergoing-stapes-surgery
#2
Susen Lailach, Tina Schenke, Ingo Baumann, Hannah Walter, Mark Praetorius, Thomas Beleites, Thomas Zahnert, Marcus Neudert
INTRODUCTION: Otosclerosis is associated with hearing disability, leading to communication deficits and social and psychological restrictions. The objective of our study was to analyze disease-specific health-related quality of life (HRQOL) after stapes surgery and compare the outcome of HRQOL with audiometric parameters. SUBJECTS AND METHODS: Our clinical case study was conducted at two tertiary referral centers. All the 37 patients who had undergone stapes surgery were analyzed clinically and by audiometric testing (pure tone and speech audiometry) in the pre- and postoperative settings...
November 7, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29095508/laser-assisted-fixation-of-a-nitinol-stapes-prosthesis
#3
Florian Schrötzlmair, Fabian Suchan, Thomas Pongratz, Eike Krause, Joachim Müller, Ronald Sroka
BACKGROUND AND OBJECTIVE: Otosclerosis is an inner ear bone disease characterized by fixation of the stapes and consequently progressive hearing loss. One treatment option is the surgical replacement of the stapes by a prosthesis. When so called "smart materials" like nitinol are used, prosthesis fixation can be performed using a laser without manual crimping on the incus. However, specific laser-prosthesis interactions have not been described yet. The aim of the present study was to elucidate the thermo-mechanical properties of the NiTiBOND® prosthesis as a basis for handling instructions for laser-assisted prosthesis fixation...
November 2, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/29094069/third-generation-bisphosphonates-for-cochlear-otosclerosis-stabilizes-sensorineural-hearing-loss-in-long-term-follow-up
#4
Taha A Jan, Aaron K Remenschneider, Christopher Halpin, Margaret Seton, Michael J McKenna, Alicia M Quesnel
Objective: To assess long-term hearing outcomes in patients treated with third-generation bisphosphonates for otosclerosis-related progressive sensorineural hearing loss (SNHL). Study Design: Retrospective case series review. Methods: We performed a retrospective case series review of patients with otosclerosis and progressive SNHL. Patients were treated with either risedronate or zoledronate after a diagnosis of otosclerosis with a significant SNHL component...
October 2017: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/29080146/use-of-narrow-band-imaging-and-4k-technology-in-otology-and-neuro-otology-preliminary-experience-and-feasibility-study
#5
Henry Zhang, Phui Yee Wong, Tiarnan Magos, Jabin Thaj, Gaurav Kumar
The advent of the endoscope has facilitated otological surgery in recent years. Advances in optical technology have led to the development of high definition visualisation, such as 4K magnification. Narrow band imaging (NBI) has been shown to improve visualisation of tissue based on varying degrees of vascularity. This is a feasibility study, the first of its kind, aiming to investigate the appearances of middle ear anatomy and pathology (tympanic membrane, tympanosclerosis, cholesteatoma, granulation, endolymphatic sac hydrops, otosclerosis) under the NBI filter, using a high definition 4K endoscope...
October 27, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29076927/the-etiological-relationship-between-migraine-and-sudden-hearing-loss
#6
Yildiz Arslan, İlker Burak Arslan, Huriye Aydin, Özlem Yağiz, Figen Tokuçoğlu, İbrahim Çukurova
OBJECTIVES: To investigate the relationship between sudden sensorineural hearing loss (SSNHL) and migraine, assess the prevalence of migraine in patients with idiopathic SSNHL, and determine a possible common vascular etiopathogenesis for migraine and SSNHL. STUDY DESIGN: Prospective cohort study. SETTING: Tertiary referral center. PATIENTS: This study initially assessed 178 SSNHL cases obtained from the Head and Neck Surgery Clinic patient database at a tertiary hospital in Turkey between January 2011 and March 2016...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29065093/cochlear-implantation-in-cochlear-ossification-retrospective-review-of-etiologies-surgical-considerations-and-auditory-outcomes
#7
Ashish Vashishth, Andrea Fulcheri, Sampath Chandra Prasad, Margherita Bassi, Gianluca Rossi, Antonio Caruso, Mario Sanna
OBJECTIVES: 1) To review the surgical and auditory outcomes and complications of cochlear implantation in cases with cochlear ossification. 2) To evaluate association between the extent and etiology of ossification to outcomes. STUDY DESIGN: Retrospective study. SETTING: Otology and skull base surgery center. SUBJECTS AND METHODS: Charts of 40 patients (42 ears) with cochlear ossification undergoing cochlear implantation were reviewed...
October 23, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29056463/a-high-jugular-bulb-and-poor-development-of-perivestibular-aqueductal-air-cells-are-not-the-cause-of-endolymphatic-hydrops-in-patients-with-m%C3%A3-ni%C3%A3-re-s-disease
#8
Ryohei Oya, Takao Imai, Takashi Sato, Atsuhiko Uno, Yoshiyuki Watanabe, Suzuyo Okazaki, Yumi Ohta, Tadashi Kitahara, Arata Horii, Hidenori Inohara
OBJECTIVE: The presence of endolymphatic hydrops in the inner ear, which can be detected with gadolinium-enhanced magnetic resonance imaging (Gd-MRI), is widely recognized as the main pathological cause of Ménière's disease (MD). However, the precise mechanisms underlying the development of endolymphatic hydrops remains unclear. One hypothesis proposes a relationship between the presence of a high jugular bulb (HJB) and MD, which disrupts the vestibular aqueduct leading to the development of endolymphatic hydrops...
October 19, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29054951/community-acquired-pseudomonas-aeruginosa-meningitis
#9
Charles Gallaher, James Norman, Abhinav Singh, Frances Sanderson
Gram-negative bacilli such as Pseudomonas aeruginosa are a rare cause of meningitis. Patients developing P. aeruginosa meningitis most commonly have a history of neurosurgical procedures. We report a patient who presented with community-acquired chronic meningitis secondary to P. aeruginosa, related to surgery for otosclerosis 5 years previously.
October 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28982792/prevalence-of-internal-auditory-canal-diverticulum-and-its-association-with-hearing-loss-and-otosclerosis
#10
K J Pippin, T J Muelleman, J Hill, J Leever, H Staecker, L N Ledbetter
BACKGROUND AND PURPOSE: Focal low-attenuation outpouching or diverticulum at the anterolateral internal auditory canal is an uncommon finding on CT of the temporal bone. This finding has been described as cavitary otosclerosis in small case reports and histology series. The purpose of this study was to establish the prevalence of internal auditory canal diverticulum and its association with classic imaging findings of otosclerosis and/or hearing loss. MATERIALS AND METHODS: Temporal bone CT scans of 807 patients, obtained between January 2013 and January 2016, were retrospectively reviewed to identify internal auditory canal diverticula and/or classic imaging findings of otosclerosis...
October 5, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28972472/identifying-otosclerosis-with-aural-acoustical-tests-of-absorbance-group-delay-acoustic-reflex-threshold-and-otoacoustic-emissions
#11
Douglas H Keefe, Kelly L Archer, Kendra K Schmid, Denis F Fitzpatrick, M Patrick Feeney, Lisa L Hunter
BACKGROUND: Otosclerosis is a progressive middle-ear disease that affects conductive transmission through the middle ear. Ear-canal acoustic tests may be useful in the diagnosis of conductive disorders. This study addressed the degree to which results from a battery of ear-canal tests, which include wideband reflectance, acoustic stapedius muscle reflex threshold (ASRT), and transient evoked otoacoustic emissions (TEOAEs), were effective in quantifying a risk of otosclerosis and in evaluating middle-ear function in ears after surgical intervention for otosclerosis...
October 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28971731/absence-of-measles-virus-detection-from-stapes-of-patients-with-otosclerosis
#12
María de Lourdes Flores-García, Claudia Adriana Colín-Castro, Mario Sabas Hernández-Palestina, Roberto Sánchez-Larios, Rafael Franco-Cendejas
Objective To determine molecularly the presence of measles virus genetic material in the stapes of patients with otosclerosis. Study Design A cross-sectional study. Setting A tertiary referral hospital. Subjects and Methods Genetic material was extracted from the stapes of patients with otosclerosis (n = 93) during the period from March 2011 to April 2012. The presence of viral measles sequences was evaluated by the real-time reverse transcriptase polymerase chain reaction (RT-PCR). The expression of the CD46 gene was determined...
September 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28902803/cochlear-implantation-in-otosclerosis-surgical-and-auditory-outcomes-with-a-brief-on-facial-nerve-stimulation
#13
Ashish Vashishth, Andrea Fulcheri, Gianluca Rossi, Sampath Chandra Prasad, Antonio Caruso, Mario Sanna
OBJECTIVES: 1) To review the surgical and auditory outcomes in patients of cochlear implantation in otosclerosis. 2) To review complications and postimplantation facial nerve stimulation (FNS). 3) To compare the auditory outcomes between patients displaying cochlear ossification to the nonossified ones. STUDY DESIGN: Retrospective study. SETTING: Quaternary Otology and Skull base surgery center. SUBJECTS AND METHODS: Charts of 36 patients (38 ears) with otosclerosis undergoing cochlear implantation were reviewed from the cochlear implant database...
October 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28891873/hearing-outcome-with-the-use-of-glass-ionomer-cement-as-an-alternative-to-crimping-in-stapedotomy
#14
Saad Elzayat, Ahmed Younes, Ayman Fouad, Fatthe Erfan, Ali Mahrous
OBJECTIVE: To evaluate early hearing outcomes using glass ionomer cement to fix the Teflon piston prosthesis onto the long process of incus to minimize residual conductive hearing loss after stapedotomy. STUDY DESIGN: Original report of prospective randomized control study. SETTING: Tertiary referral center. PATIENTS: A total of 80 consecutive patients with otosclerosis were randomized into two groups. Group A is a control group in which 40 patients underwent small fenestra stapedotomy using the classic technique...
October 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28874211/audiological-outcome-of-stapes-surgery-for-far-advanced-cochlear-otosclerosis
#15
C Heining, R Banga, R Irving, C Coulson, P Monksfield
BACKGROUND: Patients with advanced otosclerosis can present with hearing thresholds eligible for cochlear implantation. This study sought to address whether stapes surgery in this patient group provides a clinically significant audiological benefit. OBJECTIVES: To assess pre- and post-operative hearing outcomes of patients with advanced otosclerosis, and to determine what proportion of these patients required further surgery including cochlear implantation. METHODS: Between 2002 and 2015, 252 patients underwent primary stapes surgery at our institution...
September 6, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28816687/hearing-and-otoacoustic-emissions-outcome-of-stapedotomy-does-the-prosthesis-diameter-matter
#16
Nabil Faranesh, Ebrahim Magamseh, Suliman Zaaroura, Reem Zeidan, Avi Shupak
OBJECTIVE: To compare the hearing and otoacoustic emissions (OAE) outcome of stapedotomy employing 0.4 and 0.6 mm diameter prostheses. MATERIALS AND METHODS: In total, 18 patients with otosclerosis participated in a prospective, double-armed, randomized cohort study. All the patients underwent small fenestra drill stapedotomy employing the Causse fluroplastic large loop piston prostheses. The patients were randomly assigned to groups of 0.4 mm (n=9) and 0.6 mm (n=9) diameter prostheses...
August 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28798924/diagnostic-performance-of-high-resolution-computed-tomography-in-otosclerosis
#17
Todd Kanzara, Jagdeep Singh Virk
AIM: To determine the sensitivity and specificity of high resolution computed tomography (HRCT) in the diagnosis of otosclerosis. METHODS: A systematic literature review was undertaken to include Level I-III studies (Oxford Centre for Evidenced based Medicine) that utilised HRCT to detect histology confirmed otosclerosis. Quantitative synthesis was then performed. RESULTS: Based on available level III literature, HRCT has a relatively low sensitivity of 58% (95%CI: 49...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28717959/-development-and-validation-of-the-stapesplasty-outcome-test%C3%A2-25-spot-25
#18
S Lailach, T Schenke, I Baumann, H Walter, M Praetorius, T Beleites, T Zahnert, M Neudert
BACKGROUND: Otosclerosis affects health-related quality of life (HRQOL). Until now, measurements have only been performed using audiometric data or non-validated quality of life questionnaires. OBJECTIVE: The objective of this study was to develop the first validated disease-specific HRQOL measuring instrument to determine HRQOL in otosclerosis. MATERIALS AND METHODS: After sequential analysis and item reduction of the initial Stapesplasty Outcome Test 47 (SPOT-47), the SPOT-25 was validated prospectively on 52 otosclerosis patients undergoing stapes surgery...
July 17, 2017: HNO
https://www.readbyqxmd.com/read/28657952/diagnosis-of-superior-semicircular-canal-dehiscence-in-the-presence-of-concomitant-otosclerosis
#19
Michael Yong, Erica Zaia, Brian Westerberg, Jane Lea
OBJECTIVE: To review three patients with concurrent otosclerosis and superior canal dehiscence identified before operative intervention and provide a practical diagnostic approach to this clinical scenario. STUDY DESIGN: Retrospective patient series. SETTING: Tertiary/quaternary referral center. PATIENTS: Individuals with confirmed diagnoses of concurrent otosclerosis and superior semicircular canal dehiscence syndrome...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28555513/high-mobility-group-box-protein-1-expression-in-inflammatory-diseases-of-the-middle-ear
#20
Luisa Maria Bellussi, Carla Vindigni, Serena Cocca, Marie Aimee Gloria Munezero Butorano, Walter Livi, Giulia Corallo, Desiderio Passali
High-mobility group box 1 (HMGB1) is a nuclear non-histone protein, playing a critical role as a mediator between innate and acquired immunity; when released extracellularly, it coordinates the cellular stress response (under necrosis, bacterial lipopolysaccharide stimulation) and acts as an inflammatory marker and cytokine. The aim of the study was to demonstrate whether HMGB1 is over-expressed in chronic middle-ear pathologies and whether the entity of expression and the localization are correlated with the degree of the inflammatory reaction, thus suggesting that HMGB1 may play a crucial role in chronic inflammatory disorders of the middle ear, as already demonstrated in other airway diseases...
March 1, 2017: International Journal of Immunopathology and Pharmacology
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