3,267 research outputs found

    Benefit of cochlear implantation in a patient with Myhre syndrome

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    Myhre syndrome is a rare disorder characterised by short stature, skeletal anomalies, facial dysmorphism and hearing loss (HL), resulting from heterozygous mutations of the SMAD4 gene. We describe the benefits of cochlear implant (CI) in a patient with sensorineural HL carrying a mutation (NM_005359.6: c.1498A>G; p.lle500Val) within the SMAD4 gene, detected by whole-exome sequencing. The CI was inserted through the round window despite otospongiotic abnormalities. Pure-tone audiometry improved up to 20 dBHL. Speech perception in noise (Simplified Noise Reduction - SNR +10) increased from 0% pre implantation with hearing aids to 50% post implantation. The postoperative setting of the electrical stimulation limits yielded an asymmetric map, with lower levels for central electrodes and higher levels for lateral ones. Action potential could not be evoked via medial electrodes, suggesting a cochlear nerve dysfunction. Outcomes related to quality of life and cognitive impairment improved. CI was shown to be an effective auditory rehabilitation strategy

    Auditory brainstem and cochlear implants: functional results obtained after one year of rehabilitation

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    Very little information has been published on the clinical outcome of auditory brainstem implants (ABI). The present paper evaluates results obtained in a patient affected by a bilateral acoustic neuroma in type II neurofibromatosis who received an implant during removal of the residual tumor. One year later surgical revision of the ABI was necessary because no auditory sensation was obtained after ABI activation. Twelve months after the surgical revision, 12 electrodes out of 15 evoked auditory sensation. The results of rehabilitation were compared with those obtained in a group of eight postlingually deaf patients with cochlear implants (CI). Twelve months postoperatively the CI patients identified 97.7 +/- 5.1% of bisyllabic words in a closed set while the ABI patient identified 86%. CI patients recognized 87.1 +/- 11.3% of sentences and 81.3 +/- 14.8% of words with contextual cues while the ABI patient recognized 75% and 65% respectively. Speech recognition improved more slowly in the ABI patient than in the CI patients and his scores for open-set words and sentences without lip reading and contextual cues were poorer. Although the results obtained in the ABI patient were not as good as those obtained in the CI patients, the ABI patient said his quality of life was improved

    An unusual complication of cochlear implant: benign paroxysmal positional vertigo

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    Three days after the initial fitting of the cochlear device a 40-year-old woman complained of severe rotational vertigo following head movements associated with neurovegetative symptoms. Otoneurological evaluation revealed a horizontal paroxysmal positional nystagmus beating towards the lowermost ear, induced by rolling the patient's head from supine both to the right or to the left lateral position suggesting the diagnosis of benign paroxysmal positional vertigo of the left horizontal semicircular canal. The nystagmus characteristics were the same whether the cochlear device was switched on or off. The hypothesis of an otolith dislodging due to the electrical stimulation during the initial fitting is discussed

    Measurement of the production cross section of prompt j/psi mesons in association with a W (+/-) boson in pp collisions root s=7 TeV with the ATLAS detector

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    The process pp -> W (+/-) J/psi provides a powerful probe of the production mechanism of charmonium in hadronic collisions, and is also sensitive to multiple parton interactions in the colliding protons. Using the 2011 ATLAS dataset of 4.5 fb(-1) of root s= 7 TeV pp collisions at the LHC, the first observation is made of the production of W (+/-) + prompt J/psi events in hadronic collisions, using W (+/-) -> mu nu(mu) and J/psi -> mu(+)mu(-) center dot A yield of W (+/-) + prompt J/psi events is observed, with a statistical significance of 5.1 sigma. The production rate as a ratio to the inclusive W (+/-) boson production rate is measured, and the double parton scattering contribution to the cross section is estimated

    Measurement of the production of a W boson in association with a charm quark in pp collisions at root s=7 TeV with the ATLAS detector

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    The production of a W boson in association with a single charm quark is studied using 4.6 fb(-1) of pp collision data at root s = 7 TeV collected with the ATLAS detector at the Large Hadron Collider. In events in which a W boson decays to an electron or muon, the charm quark is tagged either by its semileptonic decay to a muon or by the presence of a charmed meson. The integrated and differential cross sections as a function of the pseudorapidity of the lepton from the W-boson decay are measured. Results are compared to the predictions of next-to-leading-order QCD calculations obtained from various parton distribution function parameterisations. The ratio of the strange-to-down sea-quark distributions is determined to be 0.96(-0.30)(+0.26) at Q (2) = 1.9 GeV2, which supports the hypothesis of an SU(3)-symmetric composition of the light-quark sea. Additionally, the cross-section ratio sigma(W (+) +)/sigma(W (-) + c) is compared to the predictions obtained using parton distribution function parameterisations with different assumptions about the s-(s) over bar quark asymmetry
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