KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so ...
Sera Sımsek Derelioglu+2 more
doaj +1 more source
Update on Gene Therapy in the Treatment of Hereditary Hearing Loss
Gene therapy is a promising therapeutic approach for genetic disorders, including three major gene therapy strategies: gene replacement, gene suppression, and gene editing. After transmitting genes to the inner ear through appropriate pathways, repair the cochlea in order to achieve the goal of treating hereditary hearing loss.
Weiwei He+7 more
wiley +1 more source
Tuberculous Meningitis Presented with Bilateral Sensorineural Hearing Loss: Acute Deafness
Tuberculous meningitis is the most severe manifestation of extrapulmonary tuberculosis with a high mortality and morbidity rates. It is usually presented with headache, fever, consciousness disturbances and convulsions. Eigth cranial nerve involvement is
Kürşad Çetin Akpınar+2 more
doaj +2 more sources
Arrhythmia in thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun+6 more
doaj +1 more source
Impaired Copper Metabolism in a Patient With Short Gut and IDEDNIK Syndrome
Annals of the Child Neurology Society, EarlyView.
Stephen Deputy
wiley +1 more source
Conductive Materials and Electrical Stimulation for Auditory Restoration
Applications of electroconductive biomaterials and electrical stimulation in cochlear tissue engineering.(1) Enable auditory neural repair through conductive materials and electrical stimulation, enhancing neuron survival and synaptic plasticity.(2) Integrate optogenetic‐electrical systems and cochlear organoid platforms for frequency‐specific ...
Menghui Liao+8 more
wiley +1 more source
Useful residual hearing despite radiological findings suggestive of anacusis [PDF]
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
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery+43 more
wiley +1 more source
Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness [PDF]
Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the ...
A Middleton+24 more
core +1 more source
Atypical presentation of subclavian steal syndrome with left sided sensorineural deafness. [PDF]
Rolon S+5 more
europepmc +1 more source