Results 71 to 80 of about 93,748 (336)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Assessment of Hearing Defect in Oral Submucous Fibrosis: A Cross-Sectional Study

Journal of Orofacial Sciences
Introduction: This study was designed to assess the hearing defect in oral submucous fibrosis and compare the hearing defect in different stages of oral submucous fibrosis (OSMF) and also the hearing defect in the control group.
Garikapati Anoop, Nunsavathu Purnachandra Rao Naik, Yalamanchili Samata, Saranu Sethu Manjusha, Chennupati Tejaswi   +4 more
doaj   +1 more source

Transient otoacustic emissions with tone pip in individuals with sensorineural hearing loss Emissões otoacústicas transitórias com estímulo tone pip em indivíduos portadores de perda auditiva neurossensorial

Brazilian Journal of Otorhinolaryngology, 2011
Otoacoustic Emissions are generated by the cochlea in response to sound stimuli. They can be generated by clicks or specific frequency stimuli, such as tone pips. This is a quick and objective test with several applications. OBJECTIVE: To investigate the
Thays Bueno Takeda, Daniela Gil
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Cognitive Function in Acquired Bilateral Vestibulopathy: A Cross-Sectional Study on Cognition, Hearing, and Vestibular Loss

Frontiers in Neuroscience, 2019
BackgroundSeveral studies have demonstrated cognitive deficits in patients with bilateral vestibulopathy (BVP). So far, little attention has been paid to the hearing status of vestibular patients when evaluating their cognition.
Bieke Dobbels, Bieke Dobbels, Griet Mertens, Griet Mertens, Annick Gilles, Annick Gilles, Annes Claes, Annes Claes, Julie Moyaert, Raymond van de Berg, Raymond van de Berg, Paul Van de Heyning, Paul Van de Heyning, Olivier Vanderveken, Olivier Vanderveken, Vincent Van Rompaey, Vincent Van Rompaey   +16 more
doaj   +1 more source

Listening effort in patients with sensorineural hearing loss with and without hearing aids [PDF]

, 2022
Asmaa Bakr Hussein, Reham Mamdouh Lasheen, Afaf Ahmed Emara, Trandil El Mahallawi   +3 more
openalex   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng, Wei‐Qian Wang, Sha‐Sha Huang, Min Liu, Su‐Yan Yang, Dong‐Yang Kang, Xiang Wang, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu   +9 more
wiley   +1 more source

The Treatment of Idiopathic Sudden Sensorineural Hearing Loss Using Phle-botomy: A Prospective, Randomized, Double-Blind Clinical Trial

Acta Medica Iranica, 2009
This randomized clinical trial aimed to assess the efficacy of phlebotomy on improvement of hearing loss. 71 patients with sudden sensorineural hearing loss were enrolled in this randomized clinical trial study. They were divided into two groups: group A
Fatholah Behnoud, Mohammad Taghi Goodarzi   +1 more
doaj  

Useful residual hearing despite radiological findings suggestive of anacusis [PDF]

, 1999
A severe malformation of the inner ear, often referred to as severe labyrinthine dysplasia or common cavity deformity, consists of an absent or dilated cochlear basal coil, wide communication with the vestibule and a tapered internal acoustic meatus and ...
Bamiou, DE, Mahoney, CO, Sirimanna, T
core   +1 more source

Clinical progress note: Rubella

Journal of Hospital Medicine, EarlyView.
Abstract Rates of rubella infection and congenital rubella syndrome decreased significantly since the introduction of the rubella vaccine in 1969. Endemic rubella was declared eliminated in the United States in 2004, and since 2012, all rubella cases in the United States have been associated with infections acquired abroad.
Adam E. Gailani, Walter Dehority, Sophie E. Katz   +2 more
wiley   +1 more source