Barakat syndrome diagnosed decades after initial presentation
Endocrinology, Diabetes & Metabolism Case Reports, 2023 Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Umberto Spennato +9 more
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Transient evoked otoacoustic emissions testing for screening of sensorineural deafness in puppies [PDF]
, 2011 <p><b>Background:</b> Transient evoked otoacoustic emissions (TEOAE) are widely used for human neonatal deafness screening, but have not been reported for clinical use in dogs.</p> <p><b>Hypothesis/Objectives:< ...
Ahlstrom +25 more
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Optimal management of Cogan’s syndrome: a multidisciplinary approach [PDF]
, 2017 Cogan's syndrome (CS) is a rare disorder characterized by nonsyphilitic interstitial keratitis (IK) and audio-vestibular symptoms. CS affects mainly young Caucasian adults, mostly during their first three decades of age, and may develop into typical and ...
D'Aguanno, Vittorio +3 more
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Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]
, 2015 Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina +5 more
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Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies [PDF]
, 2015 Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth.
Anselmi, Massimiliano +30 more
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Wolfram Syndrome in a Family with Variable Expression
Acta Medica, 2001 Wolfram syndrome is a rare neurodegenerative disorder with autosomal recessive inheritance. The main characteristic features of this disorder are diabetes mellitus and optic atrophy.
Abdurrahman Kadayifci +3 more
doaj +1 more source
Bone conductive implants in single sided deafness [PDF]
, 2015 Conclusion: The Bone Conductive Implants (BCI) showed to partly restore some of the functions lost when the binaural hearing is missing, such as in the single-sided deafness (SSD) subjects.
ATTURO, FRANCESCA +4 more
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PLoS ONE, 2019 Tinnitus and hearing impairment are prevalent among headache patients. This study aims to investigate the risk of tinnitus, sensorineural hearing impairment, and sudden deafness in patients with non-migraine headache.
Yi-Chun Chen +3 more
doaj +1 more source
Systemic lupus erythematosus and hearing disorders: literature review and meta-analysis of clinical and temporal bone findings [PDF]
, 2017 Objective: This literature review and meta-analysis was performed to evaluate the correlations among hearing and vestibular clinical symptoms, temporal bone findings, and pathological mechanisms in patients with systemic lupus erythematosus (SLE).
DI STADIO, Arianna, Ralli, Massimo
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Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China
Inquiry: The Journal of Health Care Organization, Provision, and Financing, 2022 Background : The GJB2 gene is the most common deafness gene, and epidemic characteristics have obvious racial specificity. Our study aimed to investigate the prevalence and ethnic specificity of the GJB2 gene in deafness in major ethnic groups in ...
Panpan Bian Master +8 more
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