Congenital Stapes Ankylosis in Children: Surgical Findings and Results in 35 Cases.

Objective: To evaluate surgical findings and hearing results in children undergoing middle ear surgery for congenital stapes ankylosis with or without other ossicular malformations (Teunissen and Cremers class I and class II malformations). Study Design: A nonrandomized, nonblinded case series of prospectively collected data. Setting: A tertiary referral center. Patients: Twenty-eight consecutive pediatric patients who underwent 35 surgical procedures for congenital stapes ankylosis with or without other ossicular malformations and had available postoperative pure-tone audiometry. Intervention: Primary stapedotomy with vein graft interposition and reconstruction with a Teflon piston, bucket handle prosthesis or total ossicular replacement prosthesis. Main Outcome Measures: Pre- and postoperative audiometric evaluation using four-frequency (0.5, 1, 2, and 4 kHz) audiometry. Air-conduction thresholds, bone-conduction thresholds, and air-bone gaps (ABGs) were measured. Postoperative audiometry was performed at 3, 6, 9, 12, 18, and 24 months after surgery and at a yearly interval thereafter. Results: Overall, a postoperative ABG closure of 10 dB or less was achieved in 73% of class I cases and in 50% of class II cases. A postoperative ABG closure of 20 dB or less was achieved in 77% of class I cases and 67% of class II cases. Postoperative sensorineural hearing loss occurred in one class I case (4%) and none of the class II cases. Conclusion: Stapedotomy is a safe and feasible treatment option in children with congenital stapes ankylosis. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Assessment of Vestibulo-oculomotor Reflex in Meniere's Disease: Defining an Instrumental Profile.

Objectives: To analyze and compare, in two groups of patients affected by definite Meniere's disease (MD) but treated differently, the Video Head Impulse Test findings especially by putting them in relationship with canal paresis, hearing loss, and duration of the disease. Study Design: Retrospective chart review. Patients: Seventy patients affected by unilateral definite MD (16 in Group 1 and 54 in Group 2) observed between March 2014 and May 2015 in a tertiary referral center were retrospectively studied and then divided into two groups: Group 1 was previously treated with intratympanic gentamicin, whereas Group 2 underwent only a conservative therapy. Instrumental tests included audiometry, caloric test, and Video Head Impulse Test. All the findings were statistically analyzed; significance was set at p = 0.005. Intervention: Diagnostic. Main Outcomes Measures: If MD is treated conservatively the high-frequency vestibulo-oculomotor reflex gain determined with Video Head Impulse Test is normal; it is pathological if MD is treated with gentamicin. Results: High-frequency vestibulo-oculomotor reflex gain showed a statistically significant reduction in Group 1; at the same time, it showed no correlation in both groups with hearing loss, duration of disease or canal paresis. Conclusion: High-frequency vestibulo-oculomotor reflex is naturally preserved even in late stage MD if the patient has been treated conservatively; the dissociation between Caloric Test and Video Head Impulse Test findings could be considered an instrumental hallmark of MD. Gentamicin significantly reduces high-frequency vestibulo-oculomotor reflex gain: this reduction can be taken into account when determining the effectiveness of an ablative treatment. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Comparison of Middle Ear Visualization With Endoscopy and Microscopy.

Introduction: The primary goal of chronic ear surgery is the creation of a safe, clean dry ear. For cholesteatomas, complete removal of disease is dependent on visualization. Conventional microscopy is adequate for most dissection, but various subregions of the middle ear are better visualized with endoscopy. Objective: The purpose of the present study was to quantitatively assess the improved visualization that endoscopes afford as compared with operating microscopes. Methods: Microscopic and endoscopic views were simulated using a three-dimensional model developed from temporal bone scans. Surface renderings of the ear canal and middle ear subsegments were defined and the percentage of visualization of each middle ear subsegment, both with and without ossicles, was then determined for the microscope as well as for 0-, 30-, and 45-degree endoscopes. Using this information, we analyzed which mode of visualization is best suited for dissection within a particular anatomical region. Results: Using a 0-degree scope provides significantly more visualization of every subregion, except the antrum, compared with a microscope. In addition, angled scopes permit visualizing significantly more surface area of every subregion of the middle ear than straight scopes or microscopes. Conclusions: Endoscopes offer advantages for cholesteatoma dissection in difficult-to-visualize areas including the sinus tympani and epitympanum. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Insertion of Cochlear Implant Electrode Array Using the Underwater Technique for Preserving Residual Hearing.

Objective: To describe a method of cochlear implantation in which the opening of the cochlea and the electrode array insertion are performed under water (underwater technique). Study Design: Retrospective patient review. Setting: Academic tertiary referral center. Patients: Fifteen implantations in children and adult patients with residual hearing at the frequencies 250, 500, and 1000 Hz on the unaided preoperative pure-tone audiometry were included in this study. Intervention(s): Cochlear implantation with a conventional full-length electrode, in which the opening of the cochlea and the electrode array insertion are performed after the tympanic cavity was filled with body-temperature Ringer solution. Main Outcome Measure(s): Changes on residual hearing 6 to 8 weeks after surgery and at subsequent follow-up appointments were analyzed. Preservation of residual hearing was defined as measurable postoperative threshold at the frequencies 250, 500, and 1000 Hz. Results: Overall postimplant hearing preservation 6 to 8 weeks after implantation was achieved in 13 of the patients (87%). Subsequent follow-up was performed on average 15.2 months after surgery (range, 7-32) in 14 out of 15 patients. At this late postoperative evaluation preservation of hearing was recorded in nine patients (64%), whereas in the remaining five patients (36%) no residual hearing was measured. Conclusion: The underwater technique offers a reliable nontraumatic method for electrode array insertions during cochlear implantation. The method respects the physiology of the cochlea und minimizes the pressure variations during cochlear opening and implantation. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Controlled Clinical Trial on Bone-anchored Hearing Implants and a Surgical Technique With Soft Tissue Preservation.

Objective: To compare the clinical and audiological outcomes after linear incision with soft-tissue preservation and standard linear incision with soft-tissue reduction for placement of percutaneous bone-anchored hearing implants. Study Design: Clinical trial with historical control-group from a previous randomized controlled trial. Setting: Tertiary referral center. Patients and Interventions: Twenty-five patients were enrolled in a prospective cohort of bone-anchored hearing implant placement with linear incision and tissue preservation with a follow-up of 6 months. The control-group consisted of 25 patients from a previous randomized controlled trial in the same tertiary referral center. All sound processors were fitted 3 weeks after surgery. Main Outcome Measures: Numbness around the abutment, length of surgery, soft-tissue reactions according to Holgers' classification, Patient and Observer Scar Assessment Scale, implant loss, Implant Stability Quotient, and audiological outcome. Results: Tissue preservation resulted in better results on sensibility (mean percentage correct responses 98% [SD 4.4] versus 89% [SD 15.0], p = 0.003), on the Patient and Observer Scar Assessment Scale (mean observer score 15.3 [SD 4.3] versus 19.4 [SD 6.3], p = 0.006), and shorter total surgery time (mean 24.6 min [SD 6.2] versus 31.9 min [SD 6.5], p

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Sudden Death Due to Vestibular Schwannoma: Caution in Emergent Management.

Objective: To enhance understanding of the possible dangers of large vestibular schwannomas and their potential to cause sudden death through rare situations such as brain herniation precipitated by cerebrospinal fluid pressure shifts. Patient: An otherwise healthy 32-year-old woman with a magnetic resonance imaging demonstrating a cystic cerebellopontine angle mass, presumptive for vestibular schwannoma, experienced sudden onset of headaches, nausea, and vomiting. Intervention: The patient was admitted to the intensive care unit, started on anticonvulsants, investigated with serial computed tomography (CT) scans, and then elective intubation and ventriculostomy when her condition worsened. Main Outcome Measure(s): Clinical and radiological findings, as well as outcome of interventions. Results: In the first hours of admission, the patient underwent serial CT scans that demonstrated fourth ventricle compression and hydrocephalus. When the patient's condition worsened, elective intubation was undertaken and an external ventricular drain was inserted. Very high intracranial pressures were noted despite cerebrospinal fluid drainage. Postoperative CT and magnetic resonance imaging demonstrated ascending transtentorial and tonsillar herniation as well as scattered cortical infarcts. Brain death was determined and care was withdrawn 5 days later. Conclusion: This is a very rare patient report of sudden death caused by a large vestibular schwannoma despite assertive emergent management. There was no intratumoral or intracranial haemorrhage. Brain death was likely a result of ascending transtentorial herniation that can occur with large posterior fossa tumors and be exacerbated by cerebrospinal fluid shifts after ventriculostomy. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Assessment of Cochlear Trauma During Cochlear Implantation Using Electrocochleography and Cone Beam Computed Tomography.

Objective: To assess cochlear trauma during cochlear implantation by electrocochleography (ECoG) and cone beam computed tomography (CBCT) and to correlate intraoperative cochlear trauma with postoperative loss of residual hearing. Methods: ECoG recordings to tone bursts at 250, 500, 750, and 1000 Hz and click stimuli were recorded before and after insertion of the cochlear implant electrode array, using an extracochlear recording electrode. CBCTs were conducted within 6 weeks after surgery. Changes of intraoperative ECoG recordings and CBCT findings were correlated with postoperative threshold shifts in pure-tone audiograms. Results: Fourteen subjects were included. In three subjects a decrease of low-frequency ECoG responses at 250, 500, 750, and 1000 Hz occurred after insertion of the electrode array. This was associated with no or minimal residual hearing 4 weeks after surgery. ECoG responses to click stimuli were present in six subjects and showed a decrease after insertion of the electrode array in three. This was associated with a mean hearing loss of 21 dB in postoperative pure-tone audiograms. Scalar dislocation of the electrode array was assumed in one subject because of CBCT findings and correlated with a decrease of low-frequency ECoG responses and a complete loss of residual hearing. Conclusion: Hearing loss of 11 dB or complete hearing loss, an intraoperative decrease of high- or low-frequency ECoG signals occurs, suggesting acute cochlear trauma. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Effects of a Single Dose Dexmedetomidine on Surgical Field Visibility During Middle Ear Microsurgery: A Randomized Study.

Objectives: To investigate whether a single dose of dexmedetomidine (DEX) improves surgical field visibility. Study Design: Randomized, prospective, double-blind study. Setting: Tertiary teaching hospital. Interventions: ASA I or II patients undergoing tympanoplasty with ossiculoplasty were randomly assigned to receive either 0.8 [mu]g/kg DEX (Group D) or the same volume of saline (Group N) 10 min before anesthesia induction. Main Outcomes: The primary outcome was the visibility of the surgical field rated by surgeons by Boezaart score. The secondary outcomes were consumption of anesthesia, hemodynamic profiles, and subsequent recovery. Results: Boezaart scores for surgical visibility were lower in Group D than in Group N (1.3 +/- 0.8 versus 1.8 +/- 0.9, P = 0.014). Minimum alveolar concentrations of sevoflurane (Group D 1 [0.9/1.1] versus Group N 1 [1/1.2], P = 0.018) and remifentanil consumption (Group D 370 [218/504] [mu]g versus Group N 583 [300/1028] [mu]g, P = 0.002) were less in Group D. Except for a transient increase in blood pressure and a decrease in heart rate during DEX infusion, hemodynamic profiles were more stable in Group D than in Group N. More patients needed morphine rescue and presented with postoperative nausea and vomiting in Group N than in Group D (Group D 1 versus Group N 8, P = 0.029). Recovery time was comparable between the two groups (Group D 19 min versus Group N 18 min, P = 0.569). Conclusion: Use of a single dose of DEX resulted in improved surgical visibility, less consumption of anesthesia, and more favorable hemodynamic profile while not delaying recovery time. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

Int J Audiol. 2016 Mar 4;:1-8

Authors: Smits C, Watson CS, Kidd GR, Moore DR, Goverts ST

Abstract
OBJECTIVE: The Dutch digits-in-noise test (NL DIN) and the American-English version (US DIN) are speech-in-noise tests for diagnostic and clinical usage. The present study investigated differences between NL DIN and US DIN speech reception thresholds (SRTs) for a group of native Dutch-speaking listeners.
DESIGN: In experiment 1, a repeated-measures design was used to compare SRTs for the NL DIN and US DIN in steady-state noise and interrupted noise for monaural, diotic, and dichotic listening conditions. In experiment 2, a subset of these conditions with additional speech material (i.e. US DIN triplets without inter-digit coarticulation/prosody) was used.
STUDY SAMPLE: Experiment 1 was conducted with 16 normal-hearing Dutch students. Experiment 2 was conducted with nine different students.
RESULTS: No significant differences between SRTs measured with the NL DIN and US DIN were found in steady-state noise. In interrupted noise the US DIN SRTs were significantly better in monaural and diotic listening conditions. Experiment 2 demonstrated that these better SRTs cannot be explained by the combined effect of inter-digit coarticulation and prosody in the American-English triplets.
CONCLUSIONS: The NL DIN and US DIN are highly comparable and valuable tests for measuring auditory speech recognition abilities. These tests promote across-language comparisons of results.

PMID: 26940045 [PubMed - as supplied by publisher]

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The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Related Articles

The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Int J Audiol. 2016 Mar 3;:1-8

Authors: Miller CW, Bates E, Brennan M

Abstract
OBJECTIVE: Frequency lowering (FL) strategies move high frequency sound into a lower frequency range. This study determined if speech perception differences are observed between some of the different frequency lowering strategies that are available.
DESIGN: A cross-sectional, repeated-measures design was used to compare three hearing aids that used wide-dynamic range compression (WDRC) and either non-linear frequency compression (NFC), linear frequency transposition (LFT), or frequency translation (FT). The hearing aids were matched to prescriptive real ear targets for WDRC. The settings for each FL strategy were adjusted to provide audibility for a 6300 Hz filtered speech signal. Sentence recognition in noise, subjective measures of sound quality, and a modified version of the speech intelligibility index (SII) were measured.
STUDY SAMPLE: Ten adults between the ages of 63 to 82 years with bilateral, high frequency hearing loss.
RESULTS: LFT and FT led to poorer sentence recognition compared to WDRC for most individuals. No difference in sentence recognition occurred with and without NFC. The quality questionnaire and SII showed few differences between conditions.
CONCLUSION: Under similar fitting and testing conditions of this study, FL techniques may not provide speech understanding benefit in certain background noise situations.

PMID: 26938846 [PubMed - as supplied by publisher]

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A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

Int J Audiol. 2016 Mar 4;:1-8

Authors: Smits C, Watson CS, Kidd GR, Moore DR, Goverts ST

Abstract
OBJECTIVE: The Dutch digits-in-noise test (NL DIN) and the American-English version (US DIN) are speech-in-noise tests for diagnostic and clinical usage. The present study investigated differences between NL DIN and US DIN speech reception thresholds (SRTs) for a group of native Dutch-speaking listeners.
DESIGN: In experiment 1, a repeated-measures design was used to compare SRTs for the NL DIN and US DIN in steady-state noise and interrupted noise for monaural, diotic, and dichotic listening conditions. In experiment 2, a subset of these conditions with additional speech material (i.e. US DIN triplets without inter-digit coarticulation/prosody) was used.
STUDY SAMPLE: Experiment 1 was conducted with 16 normal-hearing Dutch students. Experiment 2 was conducted with nine different students.
RESULTS: No significant differences between SRTs measured with the NL DIN and US DIN were found in steady-state noise. In interrupted noise the US DIN SRTs were significantly better in monaural and diotic listening conditions. Experiment 2 demonstrated that these better SRTs cannot be explained by the combined effect of inter-digit coarticulation and prosody in the American-English triplets.
CONCLUSIONS: The NL DIN and US DIN are highly comparable and valuable tests for measuring auditory speech recognition abilities. These tests promote across-language comparisons of results.

PMID: 26940045 [PubMed - as supplied by publisher]

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The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Related Articles

The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Int J Audiol. 2016 Mar 3;:1-8

Authors: Miller CW, Bates E, Brennan M

Abstract
OBJECTIVE: Frequency lowering (FL) strategies move high frequency sound into a lower frequency range. This study determined if speech perception differences are observed between some of the different frequency lowering strategies that are available.
DESIGN: A cross-sectional, repeated-measures design was used to compare three hearing aids that used wide-dynamic range compression (WDRC) and either non-linear frequency compression (NFC), linear frequency transposition (LFT), or frequency translation (FT). The hearing aids were matched to prescriptive real ear targets for WDRC. The settings for each FL strategy were adjusted to provide audibility for a 6300 Hz filtered speech signal. Sentence recognition in noise, subjective measures of sound quality, and a modified version of the speech intelligibility index (SII) were measured.
STUDY SAMPLE: Ten adults between the ages of 63 to 82 years with bilateral, high frequency hearing loss.
RESULTS: LFT and FT led to poorer sentence recognition compared to WDRC for most individuals. No difference in sentence recognition occurred with and without NFC. The quality questionnaire and SII showed few differences between conditions.
CONCLUSION: Under similar fitting and testing conditions of this study, FL techniques may not provide speech understanding benefit in certain background noise situations.

PMID: 26938846 [PubMed - as supplied by publisher]

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A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

Int J Audiol. 2016 Mar 4;:1-8

Authors: Smits C, Watson CS, Kidd GR, Moore DR, Goverts ST

Abstract
OBJECTIVE: The Dutch digits-in-noise test (NL DIN) and the American-English version (US DIN) are speech-in-noise tests for diagnostic and clinical usage. The present study investigated differences between NL DIN and US DIN speech reception thresholds (SRTs) for a group of native Dutch-speaking listeners.
DESIGN: In experiment 1, a repeated-measures design was used to compare SRTs for the NL DIN and US DIN in steady-state noise and interrupted noise for monaural, diotic, and dichotic listening conditions. In experiment 2, a subset of these conditions with additional speech material (i.e. US DIN triplets without inter-digit coarticulation/prosody) was used.
STUDY SAMPLE: Experiment 1 was conducted with 16 normal-hearing Dutch students. Experiment 2 was conducted with nine different students.
RESULTS: No significant differences between SRTs measured with the NL DIN and US DIN were found in steady-state noise. In interrupted noise the US DIN SRTs were significantly better in monaural and diotic listening conditions. Experiment 2 demonstrated that these better SRTs cannot be explained by the combined effect of inter-digit coarticulation and prosody in the American-English triplets.
CONCLUSIONS: The NL DIN and US DIN are highly comparable and valuable tests for measuring auditory speech recognition abilities. These tests promote across-language comparisons of results.

PMID: 26940045 [PubMed - as supplied by publisher]

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The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Related Articles

The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Int J Audiol. 2016 Mar 3;:1-8

Authors: Miller CW, Bates E, Brennan M

Abstract
OBJECTIVE: Frequency lowering (FL) strategies move high frequency sound into a lower frequency range. This study determined if speech perception differences are observed between some of the different frequency lowering strategies that are available.
DESIGN: A cross-sectional, repeated-measures design was used to compare three hearing aids that used wide-dynamic range compression (WDRC) and either non-linear frequency compression (NFC), linear frequency transposition (LFT), or frequency translation (FT). The hearing aids were matched to prescriptive real ear targets for WDRC. The settings for each FL strategy were adjusted to provide audibility for a 6300 Hz filtered speech signal. Sentence recognition in noise, subjective measures of sound quality, and a modified version of the speech intelligibility index (SII) were measured.
STUDY SAMPLE: Ten adults between the ages of 63 to 82 years with bilateral, high frequency hearing loss.
RESULTS: LFT and FT led to poorer sentence recognition compared to WDRC for most individuals. No difference in sentence recognition occurred with and without NFC. The quality questionnaire and SII showed few differences between conditions.
CONCLUSION: Under similar fitting and testing conditions of this study, FL techniques may not provide speech understanding benefit in certain background noise situations.

PMID: 26938846 [PubMed - as supplied by publisher]

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A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

A comparison between the Dutch and American-English digits-in-noise (DIN) tests in normal-hearing listeners.

Int J Audiol. 2016 Mar 4;:1-8

Authors: Smits C, Watson CS, Kidd GR, Moore DR, Goverts ST

Abstract
OBJECTIVE: The Dutch digits-in-noise test (NL DIN) and the American-English version (US DIN) are speech-in-noise tests for diagnostic and clinical usage. The present study investigated differences between NL DIN and US DIN speech reception thresholds (SRTs) for a group of native Dutch-speaking listeners.
DESIGN: In experiment 1, a repeated-measures design was used to compare SRTs for the NL DIN and US DIN in steady-state noise and interrupted noise for monaural, diotic, and dichotic listening conditions. In experiment 2, a subset of these conditions with additional speech material (i.e. US DIN triplets without inter-digit coarticulation/prosody) was used.
STUDY SAMPLE: Experiment 1 was conducted with 16 normal-hearing Dutch students. Experiment 2 was conducted with nine different students.
RESULTS: No significant differences between SRTs measured with the NL DIN and US DIN were found in steady-state noise. In interrupted noise the US DIN SRTs were significantly better in monaural and diotic listening conditions. Experiment 2 demonstrated that these better SRTs cannot be explained by the combined effect of inter-digit coarticulation and prosody in the American-English triplets.
CONCLUSIONS: The NL DIN and US DIN are highly comparable and valuable tests for measuring auditory speech recognition abilities. These tests promote across-language comparisons of results.

PMID: 26940045 [PubMed - as supplied by publisher]

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The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Related Articles

The effects of frequency lowering on speech perception in noise with adult hearing-aid users.

Int J Audiol. 2016 Mar 3;:1-8

Authors: Miller CW, Bates E, Brennan M

Abstract
OBJECTIVE: Frequency lowering (FL) strategies move high frequency sound into a lower frequency range. This study determined if speech perception differences are observed between some of the different frequency lowering strategies that are available.
DESIGN: A cross-sectional, repeated-measures design was used to compare three hearing aids that used wide-dynamic range compression (WDRC) and either non-linear frequency compression (NFC), linear frequency transposition (LFT), or frequency translation (FT). The hearing aids were matched to prescriptive real ear targets for WDRC. The settings for each FL strategy were adjusted to provide audibility for a 6300 Hz filtered speech signal. Sentence recognition in noise, subjective measures of sound quality, and a modified version of the speech intelligibility index (SII) were measured.
STUDY SAMPLE: Ten adults between the ages of 63 to 82 years with bilateral, high frequency hearing loss.
RESULTS: LFT and FT led to poorer sentence recognition compared to WDRC for most individuals. No difference in sentence recognition occurred with and without NFC. The quality questionnaire and SII showed few differences between conditions.
CONCLUSION: Under similar fitting and testing conditions of this study, FL techniques may not provide speech understanding benefit in certain background noise situations.

PMID: 26938846 [PubMed - as supplied by publisher]

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Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.

Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.

Eur Arch Otorhinolaryngol. 2016 Mar 4;

Authors: Wasano K, Matsunaga T, Ogawa K, Kunishima S

Abstract
MYH9 disorder is a rare autosomal-dominant disorder. We previously reported that it is caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9 disorder causes congenital macrothrombocytopenia accompanied by progressive sensorineural hearing loss, nephropathy, and cataract. However, there are few reports that describe the audiological features of MYH9 disorder. The objective of this study was to characterize auditory and other phenotypes of patients with MYH9 disorder. We examined nine subjects from one Japanese family. Audiological, ophthalmological, hematological, and imaging examinations were used to assess clinical features. We carried out genetic analysis of the causative gene, MYH9. Five subjects exhibited macrothrombocytopenia and neutrophil cytoplasmic inclusion bodies. Immunofluorescence analysis of neutrophil NMMHC-IIA revealed abnormal type II localization. Two subjects had high-frequency dominant hearing loss, which was adult onset and progressive. Only one subject had cataract. MYH9 sequencing analysis of all thrombocytopenic subjects revealed a heterozygous c.4270G>A mutation in exon 30 (p.D1424N). We identified five patients with MYH9 disorder from the family. The hearing impairment associated with MYH9 disorder in this family was characterized as adult onset, progressive, and high-frequency dominant. Hematological manifestations of MYH9 disorder show complete penetrance, whereas extra-hematological manifestations show incomplete penetrance and variable expressivity in this family.

PMID: 26942920 [PubMed - as supplied by publisher]

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An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Related Articles

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Mol Genet Metab Rep. 2015 Jun;3:47-54

Authors: Guillen Sacoto MJ, Chapman KA, Heath D, Seprish MB, Zand DJ

Abstract
We describe a young girl with dilated cardiomyopathy, long QT syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial DNA analysis that were interpreted as potentially causative. Changes were identified in the KCNH2 gene and mitochondrial tRNA for cysteine. A variation was also seen in MYPBC3. Since the launch of WES as a clinically available technology in 2010, there has been concern regarding the identification of variants unrelated to the patient's phenotype. However, in cases where targeted sequencing fails to explain the clinical presentation, the underlying etiology could be more complex than anticipated. In this situation, the extensive reach of this tool helped explain both her phenotype and family history.

PMID: 26937396 [PubMed]

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Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.

Related Articles

Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.

J Trop Pediatr. 2016 Mar 2;

Authors: Ajij M, Shambhavi, Patra B, Singh A, Kapoor S

Abstract
BACKGROUND: Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare.
CASE CHARACTERISTICS: A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism. Further evaluation revealed moderate sensorineural hearing loss; genetic analysis showed that baby was homozygous for the known mutations causing the disease.
INTERVENTION: Thyroid hormone replacement and hearing habilitation were done. Follow up showed regression of the neck mass and normalization of thyroid function tests. Genetic counseling of the family was done.
MESSAGE: Identification of the exact cause of congenital hypothyroidism can prevent grave consequences later on for the patient as well as for the family.

PMID: 26936928 [PubMed - as supplied by publisher]

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Predicting ground contact events for a continuum of gait types: An application of targeted machine learning using principal component analysis

Publication date: Available online 4 March 2016
Source:Gait & Posture
Author(s): Sean T. Osis, Blayne A. Hettinga, Reed Ferber
An ongoing challenge in the application of gait analysis to clinical settings is the standardized detection of temporal events, with unobtrusive and cost-effective equipment, for a wide range of gait types. The purpose of the current study was to investigate a targeted machine learning approach for the prediction of timing for foot strike (or initial contact) and toe-off, using only kinematics for walking, forefoot running, and heel-toe running. Data were categorized by gait type and split into a training set (∼30%) and a validation set (∼70%). A principal component analysis was performed, and separate linear models were trained and validated for foot strike and toe-off, using ground reaction force data as a gold-standard for event timing. Results indicate the model predicted both foot strike and toe-off timing to within 20ms of the gold-standard for more than 95% of cases in walking and running gaits. The machine learning approach continues to provide robust timing predictions for clinical use, and may offer a flexible methodology to handle new events and gait types.



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Predicting ground contact events for a continuum of gait types: An application of targeted machine learning using principal component analysis

Publication date: Available online 4 March 2016
Source:Gait & Posture
Author(s): Sean T. Osis, Blayne A. Hettinga, Reed Ferber
An ongoing challenge in the application of gait analysis to clinical settings is the standardized detection of temporal events, with unobtrusive and cost-effective equipment, for a wide range of gait types. The purpose of the current study was to investigate a targeted machine learning approach for the prediction of timing for foot strike (or initial contact) and toe-off, using only kinematics for walking, forefoot running, and heel-toe running. Data were categorized by gait type and split into a training set (∼30%) and a validation set (∼70%). A principal component analysis was performed, and separate linear models were trained and validated for foot strike and toe-off, using ground reaction force data as a gold-standard for event timing. Results indicate the model predicted both foot strike and toe-off timing to within 20ms of the gold-standard for more than 95% of cases in walking and running gaits. The machine learning approach continues to provide robust timing predictions for clinical use, and may offer a flexible methodology to handle new events and gait types.



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Predicting ground contact events for a continuum of gait types: An application of targeted machine learning using principal component analysis

Publication date: Available online 4 March 2016
Source:Gait & Posture
Author(s): Sean T. Osis, Blayne A. Hettinga, Reed Ferber
An ongoing challenge in the application of gait analysis to clinical settings is the standardized detection of temporal events, with unobtrusive and cost-effective equipment, for a wide range of gait types. The purpose of the current study was to investigate a targeted machine learning approach for the prediction of timing for foot strike (or initial contact) and toe-off, using only kinematics for walking, forefoot running, and heel-toe running. Data were categorized by gait type and split into a training set (∼30%) and a validation set (∼70%). A principal component analysis was performed, and separate linear models were trained and validated for foot strike and toe-off, using ground reaction force data as a gold-standard for event timing. Results indicate the model predicted both foot strike and toe-off timing to within 20ms of the gold-standard for more than 95% of cases in walking and running gaits. The machine learning approach continues to provide robust timing predictions for clinical use, and may offer a flexible methodology to handle new events and gait types.



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