keyword
https://read.qxmd.com/read/38500116/a-novel-intronic-tcof1-pathogenic-variant-in-a-chinese-family-with-treacher-collins-syndrome
#1
JOURNAL ARTICLE
Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren
BACKGROUND: Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. METHODS: To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequencing, reverse transcription (RT)-PCR, and the Minigene assay were performed. RESULTS: The probands, an 11-year-old male and his cousin exhibited typical clinical manifestations of TCS including conductive hearing loss, downward slanting palpebral fissures, and mandibular hypoplasia...
March 18, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38440510/study-of-morphological-and-anthropometric-features-of-human-ear-ossicles
#2
JOURNAL ARTICLE
Shreeya Vinay Kulkarni, Nirmala Mahadev Yamagar, Shashikant Anil Pol, Rushika Patel, Alisha Gilani
To study the morphology and anthropometry of human ear ossicles from cadaveric temporal bone and to study the variations of the human ossicles from ossiculoplasty point of view. 38 sets of ear ossicles were collected, each containing malleus, incus and stapes, from temporal bone dissection done in Vasantrao Pawar medical college, Nashik. They were studied under microscope & anthropometrical, morphological evaluation done. Malleus showed variations in handle where 61% were straight and 39% curved. Weight of malleus ranged from 0...
February 2024: Indian Journal of Otolaryngology and Head and Neck Surgery
https://read.qxmd.com/read/38432225/congenital-absence-of-stapes-suprastructure-and-footplate-a-case-report
#3
Sunicha Jiraboonsri, Pornsek Tananuchittikul
INTRODUCTION: Congenital ossicular chain anomalies are rare conductive hearing loss conditions that remain difficult to diagnose even with high-resolution computed tomography (CT). The preoperative diagnosis is helpful for surgical planning and counseling patients regarding treatment outcomes. CASE PRESENTATION: We report a case involving a 14-year-old boy presenting with left conductive hearing loss without history of trauma for 5 years, physical examination showed normal otoscopic examination bilaterally and high-resolution CT showed absent of stapes suprastructure and footplate...
March 1, 2024: ORL; Journal for Oto-rhino-laryngology and its related Specialties
https://read.qxmd.com/read/38411122/ossicular-reconstruction-with-various-degrees-of-malleus-preservation-in-patients-with-chronic-otitis-media
#4
JOURNAL ARTICLE
Lian-Jie Lin, Bo-Cheng Chen, Chih-Ying Chen, Peir-Rong Chen, Yu-Fu Chou
Objective: We examined the relationship between factors of middle ear conditions and the outcome of ossiculoplasty in chronic otitis media (COM) by measuring the improvement in the air-bone gap (ABG) and air conduction threshold (TAC). Methods: This retrospective study analyzed 76 patients (77 ears) who underwent ossiculoplasty from among 520 COM patients who underwent tympanoplasty based on the maximum preservation of the original ossicles. The reconstructed ossicular chain was performed by preserving or utilizing the remaining malleus in all cases with the presence of the malleus manubrium...
February 27, 2024: Ear, Nose, & Throat Journal
https://read.qxmd.com/read/38409278/the-dresden-in-vivo-oct-dataset-for-automatic-middle-ear-segmentation
#5
JOURNAL ARTICLE
Peng Liu, Svea Steuer, Jonas Golde, Joseph Morgenstern, Yujia Hu, Catherina Schieffer, Steffen Ossmann, Lars Kirsten, Sebastian Bodenstedt, Micha Pfeiffer, Stefanie Speidel, Edmund Koch, Marcus Neudert
Endoscopic optical coherence tomography (OCT) offers a non-invasive approach to perform the morphological and functional assessment of the middle ear in vivo. However, interpreting such OCT images is challenging and time-consuming due to the shadowing of preceding structures. Deep neural networks have emerged as a promising tool to enhance this process in multiple aspects, including segmentation, classification, and registration. Nevertheless, the scarcity of annotated datasets of OCT middle ear images poses a significant hurdle to the performance of neural networks...
February 26, 2024: Scientific Data
https://read.qxmd.com/read/38361297/the-torp-porp-a-tympanoplasty-technique-for-isolated-defects-of-the-stapes-suprastructure
#6
JOURNAL ARTICLE
Julia Esser, Jens Peter Klussmann, Karl Bernd Hüttenbrink, Jan Christoffer Luers
OBJECTIVE: Investigating the outcomes of a surgical approach to treat isolated defects of the stapes suprastructure, using a modified total ossicular replacement prosthesis (TORP) prosthesis as a PORP between the footplate and the incus, effectively creating a TORP-PORP configuration. PATIENTS: Eleven patients (mean age, 37.2 years; 36% male and 64% female) between the years 2007 and 2022. INTERVENTIONS: Therapeutic (ossiculoplasty). MAIN OUTCOME MEASURES: Hearing gain (in dB) in air conduction thresholds at 0...
March 1, 2024: Otology & Neurotology
https://read.qxmd.com/read/38305030/how-i-do-it-linear-transmission-between-malleus-and-stapes-in-cases-with-incus-necrosis
#7
JOURNAL ARTICLE
Mena Maher Nassif, Tarek A Hamdy, Mohmed Saad
No abstract text is available yet for this article.
February 2, 2024: Journal of Laryngology and Otology
https://read.qxmd.com/read/38237204/performance-of-personalised-prosthesis-under-static-pressure-numerical-analysis-and-experimental-validation
#8
JOURNAL ARTICLE
Masoud Mohseni-Dargah, Christopher Pastras, Payal Mukherjee, Kai Cheng, Khosro Khajeh, Mohsen Asadnia
This study investigates the performance of personalised middle ear prostheses under static pressure through a combined approach of numerical analysis and experimental validation. The sound transmission performances of both normal and reconstructed middle ears undergo changes under high positive or negative pressure within the middle ear cavity. This pressure fluctuation has the potential to result in prosthesis displacement/extrusion in patients. To optimise the design of middle ear prostheses, it is crucial to consider various factors, including the condition of the middle ear cavity in which the prosthesis is placed...
January 10, 2024: Journal of the Mechanical Behavior of Biomedical Materials
https://read.qxmd.com/read/38200355/registration-of-preoperative-temporal-bone-ct-scan-to-otoendoscopic-video-for-augmented-reality-based-on-convolutional-neural-networks
#9
JOURNAL ARTICLE
Ali Taleb, Sarah Leclerc, Raabid Hussein, Alain Lalande, Alexis Bozorg-Grayeli
PURPOSE: Patient-to-image registration is a preliminary step required in surgical navigation based on preoperative images. Human intervention and fiducial markers hamper this task as they are time-consuming and introduce potential errors. We aimed to develop a fully automatic 2D registration system for augmented reality in ear surgery. METHODS: CT-scans and corresponding oto-endoscopic videos were collected from 41 patients (58 ears) undergoing ear examination (vestibular schwannoma before surgery, profound hearing loss requiring cochlear implant, suspicion of perilymphatic fistula, contralateral ears in cases of unilateral chronic otitis media)...
January 10, 2024: European Archives of Oto-rhino-laryngology
https://read.qxmd.com/read/38174760/middle-ear-ossicular-joint-changes-in-type-2-diabetes-mellitus-a-histopathological-study
#10
JOURNAL ARTICLE
Tomotaka Shimura, Nevra Keskin Yilmaz, Dilshan Rajan, Sebahattin Cureoglu, Rafael Da Costa Monsanto
OBJECTIVES: Although previous research has indicated inner ear changes in diabetes mellitus (DM) patients, no prior study has explored the middle ear, particularly the ossicles and their joints, in DM patients. This study aimed to investigate whether type 2 DM is associated with middle ear changes, specifically affecting the ossicular chain and joints. METHODS: This study included 47 ears from 25 patients with DM (male = 13, female = 12, age: 51...
January 4, 2024: Laryngoscope
https://read.qxmd.com/read/38163263/robot-assisted-transcanal-endoscopic-ear-surgery-for-congenital-cholesteatoma
#11
JOURNAL ARTICLE
François Simon, Yann Nguyen, Natalie Loundon, Françoise Denoyelle
Congenital cholesteatoma accounts for 25% of cholesteatoma cases in children. Transcanal Endoscopic Ear Surgery (TEES) is ideal for these patients because it offers a wide endoscopic view of the middle ear and a minimally invasive approach. The two main limitations are the loss of one operative hand and a narrow external auditory canal in younger children. Here, we present the case of a 3-year-old patient with a Potsic stage III congenital cholesteatoma adherent to the incus and branches of the stapes. A robotic-assisted TEES procedure was performed, during which a robotic arm with 6 degrees of freedom held a 0°, 2...
December 15, 2023: Journal of Visualized Experiments: JoVE
https://read.qxmd.com/read/38153887/-features-and-results-of-surgical-rehabilitation-of-hearing-loss-in-osteogenesis-imperfecta
#12
JOURNAL ARTICLE
A I Kryukov, E V Garov, E I Zelikovich, E E Zagorskaya, A S Kaloshina, E E Garova, A S Panasova, O V Kovtun, A G Khublaryan
UNLABELLED: Osteogenesis imperfecta (OI) is a form of congenital osteoporosis. Depending on the type of OI, patients experience various types of hearing loss. Depending on the type and degree of hearing loss, various methods of hearing rehabilitation are used in this category of patients. OBJECTIVE: To evaluate the features and results of surgical rehabilitation of hearing loss in patients with osteogenesis imperfecta. MATERIAL AND METHODS: During the period from 2009 to 2022, 2221 primary stapedoplasty was performed in the department, of which 23 (1...
2023: Vestnik Otorinolaringologii
https://read.qxmd.com/read/38038405/quantitative-analysis-of-3d-printed-custom-ossicular-prostheses-motion-using-laser-doppler-vibrometry
#13
JOURNAL ARTICLE
Jacek Sokołowski, Adam Orłowski, Robert Bartoszewicz, Magdalena Lachowska, Alicja Gosiewska, Przemyslaw Biecek, Kazimierz Niemczyk
<b><br>Introduction:</b> In chronic otitis media, the reconstruction of the middle ear's sound conducting system involves repairing the tympanic membrane and filling the space between ossicular chain remnants. The final shape of the prosthesis is usually determined intraoperatively. However, the ossicular chain may be preoperatively measured using computed tomography (CT) scans, and an individualized prosthesis can be designed. Custom 3D printing seems to be an attractive solution for optimal adjustment...
February 29, 2024: Otolaryngologia Polska
https://read.qxmd.com/read/37985461/anatomic-and-morphometric-examination-of-auditory-ossicles-in-sheep
#14
JOURNAL ARTICLE
Burcu Kamaşak Arpaçay, Berat Yağmur, Emre Uğuz, Elif Çömlekçi, Ruken Öncü, Tufan Ulcay, Kenan Aycan
It is important to know the morphometry of the auditory ossicles for middle ear surgical applications. The present study aims to investigate the morphometric measurements of sheep auditory ossicles and the relationship between these ossicles. In this study, 100 malleus, incus and stapes of 50 Akkaraman sheep were examined using at trinocular stereo microscope and a total of 19 morphometric measurements were taken. The mean values of the morphometric measurements were obtained, and correlation analysis was performed between each part of each auditory ossicle...
November 20, 2023: Anatomia, Histologia, Embryologia
https://read.qxmd.com/read/37916864/use-of-simulated-data-to-explore-the-application-of-optical-coherence-tomography-for-classifying-middle-ear-pathologies
#15
JOURNAL ARTICLE
Marzieh Golabbakhsh, W Robert J Funnell
Optical coherence tomography (OCT) vibrometry is a non-invasive tool for functional imaging of the middle ear. It provides spatially resolved vibrational responses and also anatomical images of the same ear. Our objective here was to explore the potential of OCT vibration measurements at the incus, as well as at the umbo, to distinguish among middle-ear disorders. Our approach was to build finite-element models of normal and pathological ears, generate large amounts of synthetic data, and then classify the simulated data into normal and pathological groups using a decision tree based on features extracted from simulated vibration magnitudes...
November 1, 2023: Journal of the Acoustical Society of America
https://read.qxmd.com/read/37893430/high-resolution-computed-tomography-in-middle-ear-cholesteatoma-how-much-do-we-need-it
#16
JOURNAL ARTICLE
Eugen Horatiu Stefanescu, Nicolae Constantin Balica, Sorin Bogdan Motoi, Laura Grigorita, Madalina Georgescu, Gheorghe Iovanescu
Background and Objectives : The diagnosis of cholesteatoma is usually clinic, and the only efficient treatment is surgical. High-resolution computed tomography (HRCT) is not considered absolutely necessary for the management of an uncomplicated cholesteatoma, but unsuspected situations from a clinical point of view can be discovered using the scans, warning the surgeon. Our objective is to compare HRCT scan information with intraoperative findings in patients with cholesteatoma and analyze the usefulness of a preoperative HRCT scan from a surgical point of view...
September 25, 2023: Medicina
https://read.qxmd.com/read/37884521/middle-ear-innovation-in-early-cretaceous-eutherian-mammals
#17
JOURNAL ARTICLE
Haibing Wang, Yuanqing Wang
The middle ear ossicles in modern mammals are repurposed from postdentary bones in non-mammalian cynodonts. Recent discoveries by palaeontological and embryonic studies have developed different models for the middle ear evolution in mammaliaforms. However, little is known about the evolutionary scenario of the middle ear in early therians. Here we report a detached middle ear preserved in a new eutherian mammal from the Early Cretaceous Jehol Biota. The well-preserved articulation of the malleus and incus suggest that the saddle-shaped incudomallear joint is a major apomorphy of Early Cretaceous eutherians...
October 26, 2023: Nature Communications
https://read.qxmd.com/read/37875166/development-of-the-human-primary-and-secondary-jaw-joints
#18
JOURNAL ARTICLE
E M Fernández-Rubio, R J Radlanski
This study investigates the development of the primary and secondary jaw joints in humans, focusing on their concomitance and subsequent disconnection. Development begins with the primary temporomandibular joint as a connection between Meckel's cartilage and the incus, while the secondary temporomandibular joint develops anteriorly as an articulation between the mandibular condyle and the mandibular fossa. Previous research in mice has provided insights into the morphogenesis of these joints, but their specific development of the 3D morphogenesis in humans remains unclear...
January 2024: Annals of Anatomy
https://read.qxmd.com/read/37872266/cholesteatoma-severely-impacts-the-integrity-and-bone-material-quality-of-the-incus
#19
JOURNAL ARTICLE
Maximilian M Delsmann, Paul Bonik, Ana Ocokoljic, Sophia M Häussler, Klaus Püschel, Mark Praetorius, Michael Amling, Jonathan Peichl, Tim Rolvien
Cholesteatoma can lead to progressive destruction of the auditory ossicles along with conductive hearing loss but precise data on the microstructural, cellular, and compositional aspects of affected ossicles are not available. Here, we obtained incus specimens from patients who had cholesteatoma with conductive hearing loss. Incudes were evaluated by micro-computed tomography, histomorphometry on undecalcified sections, quantitative backscattered electron imaging, and nanoindentation. Results were compared with two control groups taken from patients with chronic otitis media as well as from skeletally intact donors at autopsy...
October 24, 2023: Calcified Tissue International
https://read.qxmd.com/read/37828886/-analysis-of-medium-and-long-term-efficacy-of-ossicle-chain-bypass-technique-in-treatment-of-tympanosclerosis
#20
JOURNAL ARTICLE
Ningyu Feng, Ying Zhang, Pei Dong, Xueliang Shen, Ming Liu, Yaxin Wang, Ruixia Ma
Objective: For tympanosclerosis patients with ossicular chain fixation, we use ossicular chain bypass technique and evaluate its long-term effects. Methods: From June 2017 to June 2019, 147 patients with tympanosclerosis who underwent middle ear surgery with otoscopy in Yinchuan First People's Hospital were reviewed. The subjects were divided into three groups according to the implemented operation plan, 51 cases in the ossicular chain mobilization group(OCM), 56 cases in the ossicular chain bypass reconstruction group(OCB), and 40 cases in the malleus-incus complex resection reconstruction group(MICR)...
October 2023: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
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