Search results for "Deafne"
showing 10 items of 75 documents
A method for determining precise electrical hearing thresholds in cochlear implant users
2018
A psychoacoustic procedure designed for the precise assessment of perceptional threshold (T-level) in cochlear implant (CI) users is presented. The impact of this procedure on speech perception was investigated.Individual T-level measurements were obtained with the proposed procedure and three different speech processor fitting conditions were applied: (1) fitting familiar to the subject, T-levels unchanged, (2) T-level set to thresholds determined with the new procedure, (3) T-level set to thresholds determined with the new procedure, but T-level is decreased by 10 clinical units (CU). The impact of the different fitting conditions was measured by means of categorical loudness scaling (CLS…
Management of head and neck paragangliomas: review of 120 patients.
2008
Head and neck paragangliomas (PGL) are rare, mostly benign tumors. About 10% to 15% of PGL are caused by mutations in the succinate dehydrogenase genes B, C, or D and may appear multifocally.A retrospective review of 120 patients with 146 head and neck PGL, including 46 carotid body tumors (CBT), 13 vagal tumors, 55 jugulotympanic tumors (JTT), 25 tympanic tumors (TT) and 7 tumors in other locations are included. The internal carotid artery was preserved in 97.5% of CBT resections. Preservation of hearing was achieved in 92% of JTT and 88% of TT resections.According to our experience, the treatment of PGL must be individualized, taking into account the patient's age, medical condition, tumo…
Treatment of sudden sensorineural hearing loss with transtympanic injection of steroids as single therapy: a randomized clinical study.
2011
The aim of this study was to verify the efficacy and the safety of transtympanic dexamethasone to treat sudden sensorineural hearing loss as first and single drug method. Considering ethical implication of performing a mininvasive procedure on middle ear, we matched such proposed treatment with systemic prednisone administration that represents the widest adopted protocol. Randomized prospective study was conducted. The inclusion criterion was a sudden sensorineural hearing loss of at least 30 dB across three contiguous frequencies over a period of 24 h. Group A received transtympanic steroid injections; Group B received oral administration of steroids. 25 patients were treated with transty…
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
2004
AbstractPendred syndrome (PS) is the most common cause of syndromic deafness, accounting for more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral sensorineural hearing loss and by goiter with or without hypothyroidism. Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P. An audiological long-term follow-up of 23 yr showed that the mutation T416P is associated with a …
The internal auditory artery: (embryology, anatomy, angiography, pathology).
1975
A review of the literature on the embryology, anatomy and angiography of the internal auditory artery has shown that there may be considerable variation as to the origin and number of internal auditory arteries. The present study, based on serial magnification angiographies of the internal auditory artery, has demonstrated 7 variants of the origin of this artery although in 45.4% of cases the internal auditory artery arose from the anterior inferior cerebellar artery. For the diagnosis of pathological processes in the cerebellopontine angle (tumors, sudden deafness, vascular abnormalities) magnification angiography is of special importance. Acoustic neurinomas in particular can be diagnosed…
Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family
2000
The mitochondrial (mt) 3243 DNA mutation is an underlying cause of maternally inherited diabetes and deafness (MIDD) syndrome and the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). We report an affected German MIDD pedigree with maternal lineage over three generations. The index patient, her mother, her maternal aunt and her maternal grandmother all suffered from diabetes and premature hearing loss and were positive on testing for the mt 3243 DNA mutation. The 27-year-old index patient had a history of grand mal seizures. As sequela of abdominal ultrasound and confirmed by magnetic resonance cholangio-pancreaticography, she was diagnose…
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
2021
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a…
Music perception and cognition: development, neural basis, and rehabilitative use of music.
2013
Music is a highly versatile form of art and communication that has been an essential part of human society since its early days. Neuroimaging studies indicate that music is a powerful stimulus also for the human brain, engaging not just the auditory cortex but also a vast, bilateral network of temporal, frontal, parietal, cerebellar, and limbic brain areas that govern auditory perception, syntactic and semantic processing, attention and memory, emotion and mood control, and motor skills. Studies of amusia, a severe form of musical impairment, highlight the right temporal and frontal cortices as the core neural substrates for adequate perception and production of music. Many of the basic aud…
Auditory, speech and language development in young children with cochlear implants compared with children with normal hearing.
2010
Abstract Objective This study had two aims: (1) to document the auditory and lexical development of children who are deaf and received the first cochlear implant (CI) by the age of 16 months and the second CI by the age of 31 months and (2) to compare these children's results with those of children with normal hearing (NH). Methods This longitudinal study included five children with NH and five with sensorineural deafness. All children of the second group were observed for 36 months after the first fitting of the device (cochlear implant). The auditory development of the CI group was documented every 3 months up to the age of two years in hearing age and chronological age and for the NH gro…
Sudden sensorineural hearing loss as prodromal symptom of anterior inferior cerebellar artery infarction.
2011
Sudden sensorineural hearing loss is a clinical condition characterized by a sudden onset of unilateral or bilateral hearing loss. In recent years sudden deafness has been frequently described in association with anterior inferior cerebellar artery (AICA) infarction generally presenting along with other brainstem and cerebellar signs such as ataxia, dysmetria and peripheral facial palsy. The authors report a rare clinical case of a 53-year-old man who suddenly developed hearing loss and tinnitus without any brainstem or cerebellar signs. Computed tomography of his brain was normal, and the audiological results localized the lesion causing deafness to the inner ear. Surprisingly, magnetic re…