Results 61 to 70 of about 54,480 (306)

Idiopathic sensorineural hearing loss [PDF]

, 2022
Introduction. Idiopathic sensorineural hearing loss is a medical emergency, which requires immediate clinical and paraclinical examinations, as well as an appropriate and prompt treatment.
Gutium, Vitalia, Noroc, Iurie
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Metabolomic profiling reveals potential biomarkers for sudden sensorineural hearing loss

Science Progress
Background: Sudden sensorineural hearing loss is a prevalent ear disorder requiring acute intervention, characterized by unclear etiology and challenging therapeutic interventions. This study aims to identify potential biomarkers for sudden sensorineural
Xintao Wang, Xueping Huang, Huasong Zhang, Yongkang Ou, Suijun Chen   +4 more
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

Patterns of changes in immune and hormonal regulation in hand-arm vibration syndrome and sensorineural hearing loss

Бюллетень сибирской медицины, 2020
The purpose of the research was to identify changes in immune and hormonal regulation in patients with hand-arm vibration syndrome and sensorineural hearing loss to substantiate informative biomarkers.Materials and methods.
G. M. Bodienkova, S. I. Kurchevenko
doaj   +1 more source

Sensorineural hearing loss after treatment for head and neck cancer : a review of the literature

, 2014
Background\ud \ud Definitive cisplatin-based is increasingly delivered as the treatment of choice for patients with head and neck cancer. Sensorineural hearing loss is a significant long term side effect of cisplatin-based chemoradiation and is ...
Burmeister, Bryan, Foote, Matthew, Shorter, Phoebe, Owen, Rebecca, Harden, Fiona   +4 more
core   +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