Results 71 to 80 of about 161,807 (290)

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

open access: yesAdvanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh   +17 more
wiley   +1 more source

DPOAE in HIV infected adults [PDF]

open access: yes, 2008
HIV infection is associated with impairment of hearing function, at any stage of disease causing complication to the external, middle, inner ear and CNS.
Bhat, Jayashree S, Ranjan, Rajesh
core  

Clinic manifestations in granulomatosis with polyangiitis [PDF]

open access: yes, 2016
Granulomatosis with polyangiitis (GPA), formerly Wegener's granulomatosis (WG), is an uncommon immunologically mediated systemic small-vessel vasculitis that is pathologically characterised by an inflammatory reaction pattern (necrosis, granulomatous ...
De Vincentiis, Marco   +7 more
core   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani   +17 more
wiley   +1 more source

Comparative analysis of allele frequencies of 15 deafness gene variants between hearing-loss and normal populations in Henan, China

open access: yesHeliyon, 2023
Background: Hearing loss is found in more than 5 % of cases worldwide. Hearing loss is divided into three types: Sensorineural hearing loss, Combined hearing loss and Conductive hearing loss.
Yuan Tian   +5 more
doaj   +1 more source

Antenatal Bartter′s syndrome with sensorineural deafness

open access: yesIndian Journal of Nephrology, 2009
Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.
Bhamkar, R. P., Gajendragadkar, A.
openaire   +2 more sources

Cochlear Implantation and Facial Nerve Stimulation: Clinical and Anatomic Correlations

open access: yesThe Laryngoscope, EarlyView.
One rare complication of cochlear implantation (CI) is facial nerve stimulation (FNS) and in this study the location and insertion depths for electrode contacts causing FNS was analyzed, and the anatomical variance of the human facial nerve canal (FNC) was explored to elucidate the mechanisms underlying FNS.
Karin Hallin   +4 more
wiley   +1 more source

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

open access: yes, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
core  

Useful residual hearing despite radiological findings suggestive of anacusis [PDF]

open access: yes, 1999
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

Effects of Marital Status on Cochlear Implant Outcomes

open access: yesThe Laryngoscope, EarlyView.
Marital status was evaluated as a predictor of post‐CI speech recognition and hearing‐related QoL in 604 adults undergoing cochlear implantation. Unmarried individuals had significantly poorer speech recognition outcomes, while QoL scores did not differ; benefits of marriage were most evident among women, employed individuals, and rural residents, and ...
Barak M. Spector   +5 more
wiley   +1 more source

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