from #Audiology via ola Kala on Inoreader http://ift.tt/2iYfEfX
via IFTTT
OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
The 50th Consumer Electronics Show (CES) was held in Las Vegas on January 5–8, 2017. As usual, it was a veritable digital playground for technophiles.
Dr. Robert T. Knight
Join the Center for Clinical and Cognitive Neuroscience on Friday, February 10th in welcoming Robert T. Knight, M.D. for a distinguished lecture, “ Frontal Cortex and Human Behavior: Insights from Intracranial Recording.” Lecture 1:00-2:30pm, Conrad Prebys Aztec Student Union Theatre followed by a light reception.
Dr. Robert T. Knight
Join the Center for Clinical and Cognitive Neuroscience on Friday, February 10th in welcoming Robert T. Knight, M.D. for a distinguished lecture, “ Frontal Cortex and Human Behavior: Insights from Intracranial Recording.” Lecture 1:00-2:30pm, Conrad Prebys Aztec Student Union Theatre followed by a light reception.
Dr. Robert T. Knight
Join the Center for Clinical and Cognitive Neuroscience on Friday, February 10th in welcoming Robert T. Knight, M.D. for a distinguished lecture, “ Frontal Cortex and Human Behavior: Insights from Intracranial Recording.” Lecture 1:00-2:30pm, Conrad Prebys Aztec Student Union Theatre followed by a light reception.
Related Articles |
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
PLoS One. 2017;12(1):e0170011
Authors: Wang Q, Fei P, Gu H, Zhang Y, Ke X, Liu Y
Abstract
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains.
METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p.C162Y mutation were followed for more than 3 years to evaluate the progression of hearing loss and vestibular dysfunction using pure-tone audiometry, caloric testing, electrocochleogram, vestibular-evoked myogenic potential, and video head-impulse test. The disruption of normal cleavage to produce secreted LCCL domain fragments and the tendency to form aggregations of mutant cochlins were tested by in vitro cell experiments.
RESULTS: The two families showed different clinical symptoms. Family #32 was identified as having early-onset, progressive sensorineural hearing loss, similar to the symptoms in DFNA9 patients with cochlin mutations in the vWFA domain. The proband of family #208 endured late-onset recurrent paroxysmal vertigo attacks and progressively deteriorating hearing, similar to symptoms in those with cochlin mutations in the LCCL domain. We therefore suggest that the disrupted cleavage of the LCCL domain fragment is likely to cause vestibular dysfunction, and aggregation of mutant cochlin caused by mutations in the vWFA domain is responsible for early-onset hearing loss. The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin, resulting in the different phenotypes in the two families.
CONCLUSION: This study demonstrates that DFNA9 families with the same genotype may have significantly different phenotypes. The mutation site in cochlin is related to the pathological mechanism underlying the different phenotypes.
PMID: 28099493 [PubMed - in process]
United Kingdom national paediatric bilateral project: Results of professional rating scales and parent questionnaires.
Cochlear Implants Int. 2017 Jan 18;:1-13
Authors: Cullington HE, Bele D, Brinton JC, Cooper S, Daft M, Harding J, Hatton N, Humphries J, Lutman ME, Maddocks J, Maggs J, Millward K, O'Donoghue G, Patel S, Rajput K, Salmon V, Sear T, Speers A, Wheeler A, Wilson K
Abstract
OBJECTIVES: This fourteen-centre project used professional rating scales and parent questionnaires to assess longitudinal outcomes in a large non-selected population of children receiving simultaneous and sequential bilateral cochlear implants.
METHODS: This was an observational non-randomized service evaluation. Data were collected at four time points: before bilateral cochlear implants or before the sequential implant, one year, two years, and three years after. The measures reported are Categories of Auditory Performance II (CAPII), Speech Intelligibility Rating (SIR), Bilateral Listening Skills Profile (BLSP) and Parent Outcome Profile (POP).
RESULTS: Thousand and one children aged from 8 months to almost 18 years were involved, although there were many missing data. In children receiving simultaneous implants after one, two, and three years respectively, median CAP scores were 4, 5, and 6; median SIR were 1, 2, and 3. Three years after receiving simultaneous bilateral cochlear implants, 61% of children were reported to understand conversation without lip-reading and 66% had intelligible speech if the listener concentrated hard. Auditory performance and speech intelligibility were significantly better in female children than males. Parents of children using sequential implants were generally positive about their child's well-being and behaviour since receiving the second device; those who were less positive about well-being changes also generally reported their children less willing to wear the second device.
CONCLUSION: Data from 78% of paediatric cochlear implant centres in the United Kingdom provide a real-world picture of outcomes of children with bilateral implants in the UK. This large reference data set can be used to identify children in the lower quartile for targeted intervention.
PMID: 28098502 [PubMed - as supplied by publisher]
United Kingdom national paediatric bilateral project: Results of professional rating scales and parent questionnaires.
Cochlear Implants Int. 2017 Jan 18;:1-13
Authors: Cullington HE, Bele D, Brinton JC, Cooper S, Daft M, Harding J, Hatton N, Humphries J, Lutman ME, Maddocks J, Maggs J, Millward K, O'Donoghue G, Patel S, Rajput K, Salmon V, Sear T, Speers A, Wheeler A, Wilson K
Abstract
OBJECTIVES: This fourteen-centre project used professional rating scales and parent questionnaires to assess longitudinal outcomes in a large non-selected population of children receiving simultaneous and sequential bilateral cochlear implants.
METHODS: This was an observational non-randomized service evaluation. Data were collected at four time points: before bilateral cochlear implants or before the sequential implant, one year, two years, and three years after. The measures reported are Categories of Auditory Performance II (CAPII), Speech Intelligibility Rating (SIR), Bilateral Listening Skills Profile (BLSP) and Parent Outcome Profile (POP).
RESULTS: Thousand and one children aged from 8 months to almost 18 years were involved, although there were many missing data. In children receiving simultaneous implants after one, two, and three years respectively, median CAP scores were 4, 5, and 6; median SIR were 1, 2, and 3. Three years after receiving simultaneous bilateral cochlear implants, 61% of children were reported to understand conversation without lip-reading and 66% had intelligible speech if the listener concentrated hard. Auditory performance and speech intelligibility were significantly better in female children than males. Parents of children using sequential implants were generally positive about their child's well-being and behaviour since receiving the second device; those who were less positive about well-being changes also generally reported their children less willing to wear the second device.
CONCLUSION: Data from 78% of paediatric cochlear implant centres in the United Kingdom provide a real-world picture of outcomes of children with bilateral implants in the UK. This large reference data set can be used to identify children in the lower quartile for targeted intervention.
PMID: 28098502 [PubMed - as supplied by publisher]
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
PLoS One. 2017;12(1):e0170011
Authors: Wang Q, Fei P, Gu H, Zhang Y, Ke X, Liu Y
Abstract
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains.
METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p.C162Y mutation were followed for more than 3 years to evaluate the progression of hearing loss and vestibular dysfunction using pure-tone audiometry, caloric testing, electrocochleogram, vestibular-evoked myogenic potential, and video head-impulse test. The disruption of normal cleavage to produce secreted LCCL domain fragments and the tendency to form aggregations of mutant cochlins were tested by in vitro cell experiments.
RESULTS: The two families showed different clinical symptoms. Family #32 was identified as having early-onset, progressive sensorineural hearing loss, similar to the symptoms in DFNA9 patients with cochlin mutations in the vWFA domain. The proband of family #208 endured late-onset recurrent paroxysmal vertigo attacks and progressively deteriorating hearing, similar to symptoms in those with cochlin mutations in the LCCL domain. We therefore suggest that the disrupted cleavage of the LCCL domain fragment is likely to cause vestibular dysfunction, and aggregation of mutant cochlin caused by mutations in the vWFA domain is responsible for early-onset hearing loss. The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin, resulting in the different phenotypes in the two families.
CONCLUSION: This study demonstrates that DFNA9 families with the same genotype may have significantly different phenotypes. The mutation site in cochlin is related to the pathological mechanism underlying the different phenotypes.
PMID: 28099493 [PubMed - in process]