Results 61 to 70 of about 42,755 (252)

Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss

Frontiers in Neurology, 2020
Hearing loss not only has a significant impact on the quality of life of patients and society, but its correlation with cognitive decline in an aging population will also increase the risk of incident dementia. While current management of hearing loss is
Vincent Van Rompaey, Vincent Van Rompaey
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

P300 in individuals with sensorineural hearing loss

Brazilian Journal of Otorhinolaryngology, 2015
Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention.To study P300 in subjects with severe or profound sensorineural hearing loss.This was a descriptive cross-sectional prospective study.
Reis, Ana Cláudia Mirandola Barbosa, Frizzo, Ana Claudia Figueiredo, Isaac, Myriam De Lima, Garcia, Cristiane Fregonesi Dutra, Funayama, Carolina Araújo Rodrigues, Iório, Maria Cecília Martinelli   +5 more
openaire   +7 more sources

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Prevalence Of Sensorineural Hearing Loss Among Stroke

Liaquat Medical Research Journal
This study was designed to determine the prevalence of sensorineural hearing loss among stroke patients. A cross-sectional analytical study was conducted. Medicine department of HMC Peshawar and lady reading hospital (LRH) in Peshawar.
Zarafshan Ahsan, Muhammad Sikander Ghayas Khan, Ayesha Badar, Malik Muhammad Qasim, Ultamish Munir, Hadia Sultan, Tayyaba Usman   +6 more
doaj   +1 more source

Mitochondrial Syndromic Sensorineural Hearing Loss

Bioscience Reports, 2007
Mitochondrial diseases (MD) are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) is often associated to mitochondrial dysfunctions both in syndromic, nonsyndromic forms.
FORLI, FRANCESCA, PASSETTI S, MANCUSO, MICHELANGELO, SECCIA V, SICILIANO, GABRIELE, NESTI, CLAUDIA, BERRETTINI, STEFANO   +6 more
openaire   +3 more sources

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Sensorineural Hearing Loss Due to Pegylated Interferon Alfa/Ribavirin Therapy: A Case Report

Viral Hepatitis Journal, 2012
The effect of interferon alpha in chronic viral hepatitis and common side effects are well known, but hearing loss have been rarely reported. A 66-year-old woman was administered peg- interferon alpha-2a (180 mcg, one times a week) and ribavirin(1200 mg ...
Tuğba SARI, Süda TEKİN KORUK, Alaaddin ZİREK   +2 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Intratympanic steroid administration and predictors of recovery in sudden sensorineural hearing loss.

PLoS ONE
ObjectivesSudden sensorineural hearing loss patient outcomes remain highly variable despite established treatment modalities. This study investigates the effects of treatment modalities, individual-level risk factors, and clinical presentation on sudden ...
Devin J Kennedy, Erin Williams, Lucienna Wolf, Jacquelyn Golden, Addison Lana, Matthew Wiefels, Madeline Pyle, Valerie Yunis, Michael Hoffer   +8 more
doaj   +1 more source