Results 51 to 60 of about 80,496 (333)

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy

Advanced Science, EarlyView.
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng, Jieyu Qi, Chen‐Chi Wu, Yilai Shu, Renjie Chai   +4 more
wiley   +1 more source

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

SAGE Open Medical Case Reports, 2017
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families.
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien   +8 more
doaj   +1 more source

Acute bilateral sensorineural hearing loss: an unexpected and early presentation of acute stroke [PDF]

, 2015
We report a case of acute ischemic stroke presented as acute bilateral sensorineural hearing loss. 47 year-old man presented with bilateral hearing loss for one day. Pure tone audiometry revealed moderate bilateral sensorineural hearing loss.
Boo, Yang Liang, Ching, Siew Mooi, Hoo, Fan Kee, Mohd Sazlly Lim, Sazlyna, Ramachandran, Vasudeven, Wan Sulaiman, Wan Aliaa   +5 more
core  

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology, 2015
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important.
Danielle Moreira, Daniela da Silva, Priscila Lopez, Jair Cortez Mantovani   +3 more
doaj   +1 more source

Sudden Sensorineural Hearing Loss in a Patient with COVID-19: A Case Report

Journal of Kerman University of Medical Sciences, 2023
Background: Several viral infections may lead to hearing loss. It›s still unknown whether COVID-19 has effects on the auditory system or not. In this regard, to evaluate the possibility of sudden sensorineural hearing loss due to COVID-19, this study ...
Maryam Delphi, Maryam Kardouni
doaj   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Sudden Sensorineural Hearing Loss Following Wasp Sting and Successful Treatment With Intratympanic Steroids

Clinical Medicine Insights: Case Reports, 2019
Objective: A sting by a Vespula vulgaris (wasp) should be considered as a cause of sudden sensorineural hearing loss. Although the mechanism of this cause is not well understood, management approach is similar to idiopathic sudden sensorineural hearing ...
Anwuli Anyah, Michael Visconti, James Spoto   +2 more
doaj   +1 more source