Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles.

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Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles.

Chin Med J (Engl). 2016 Aug 05;129(15):1805-10

Authors: Chen T, Lu XH, Wang HF, Ban R, Liu HX, Shi Q, Wang Q, Yin X, Pu CQ

Abstract
BACKGROUND: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.
METHODS: A clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.
RESULTS: Disease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.
CONCLUSIONS: We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

PMID: 27453229 [PubMed - indexed for MEDLINE]

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A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15.

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A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15.

Structure. 2017 Feb 20;:

Authors: Powers RE, Gaudet R, Sotomayor M

Abstract
Tip links of the inner ear are protein filaments essential for hearing and balance. Two atypical cadherins, cadherin-23 and protocadherin-15, interact in a Ca(2+)-dependent manner to form tip links. The largely unknown structure and mechanics of these proteins are integral to understanding how tip links pull on ion channels to initiate sensory perception. Protocadherin-15 has 11 extracellular cadherin (EC) repeats. Its EC3-4 linker lacks several of the canonical Ca(2+)-binding residues, and contains an aspartate-to-alanine polymorphism (D414A) under positive selection in East Asian populations. We present structures of protocadherin-15 EC3-5 featuring two Ca(2+)-binding linker regions: canonical EC4-5 linker binding three Ca(2+) ions, and non-canonical EC3-4 linker binding only two Ca(2+) ions. Our structures and biochemical assays reveal little difference between the D414 and D414A variants. Simulations predict that the partial Ca(2+)-free EC3-4 linker exhibits increased flexural flexibility without compromised mechanical strength, providing insight into the dynamics of tip links and other atypical cadherins.

PMID: 28238533 [PubMed - as supplied by publisher]

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A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15.

Related Articles

A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15.

Structure. 2017 Feb 20;:

Authors: Powers RE, Gaudet R, Sotomayor M

Abstract
Tip links of the inner ear are protein filaments essential for hearing and balance. Two atypical cadherins, cadherin-23 and protocadherin-15, interact in a Ca(2+)-dependent manner to form tip links. The largely unknown structure and mechanics of these proteins are integral to understanding how tip links pull on ion channels to initiate sensory perception. Protocadherin-15 has 11 extracellular cadherin (EC) repeats. Its EC3-4 linker lacks several of the canonical Ca(2+)-binding residues, and contains an aspartate-to-alanine polymorphism (D414A) under positive selection in East Asian populations. We present structures of protocadherin-15 EC3-5 featuring two Ca(2+)-binding linker regions: canonical EC4-5 linker binding three Ca(2+) ions, and non-canonical EC3-4 linker binding only two Ca(2+) ions. Our structures and biochemical assays reveal little difference between the D414 and D414A variants. Simulations predict that the partial Ca(2+)-free EC3-4 linker exhibits increased flexural flexibility without compromised mechanical strength, providing insight into the dynamics of tip links and other atypical cadherins.

PMID: 28238533 [PubMed - as supplied by publisher]

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Effectiveness of a Short Voice Training Program for Teachers: A Preliminary Study

Publication date: Available online 28 February 2017
Source:Journal of Voice
Author(s): Juana Muñoz López, Andrés Catena, Alicia Montes, Maria Elena Castillo
BackgroundUsing their voices in inappropriate working conditions causes teachers to misuse their voices, because in order to be heard they need to force their voices.ObjectiveThis preliminary study examines the effects of a short-term voice training program aimed at teachers.MethodsThe pre- and posttraining evaluations consisted of acoustic, perceptual (GRBAS [grade, roughness, breathiness, asthenia, and strain]), aerodynamic, and subjective measurements (VHI-10).ResultsThe results indicate that the voice performance of teachers improves after 25 hours of training. Specifically, significant changes are observed at the acoustic level, in fundamental frequency (F0) and in frequency perturbation measures (Jitter, PPQ [pitch perturbation quotient]), as well as in subjective voice assessment using the Voice Handicap Index (VHI-10), in both the physical subscale (VHI-P) and the total score (VHI-T).ConclusionsThis study confirms the effectiveness of the training program and discusses the most sensitive measures for evaluating the short-term effect of the change.



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Tinnitus Cure Found

Many people are wondering whether there has been a tinnitus cure found. Unfortunately, as of yet, no tinnitus cure exists. The good news is that there have been clinical trials done on new tinnitus treatments. Many of these new treatments seem promising.

New Treatments for Tinnitus

Ear Injection

There is a new gel that has been tested in medical centers in the United States and United Kingdom. The gel, which is AM-101, is designed to be injected into the ear three times a day for five days a week. There was a study done at Antwerp University Hospital, which is located in Belgium.

The study involved 248 patients who were between the ages of 16 and 68. They were given either a placebo or gel. The study lasted for 90 days. The results of the study showed that 57 percent of the subjects who took the gel noticed an improvement in their tinnitus symptoms. That is why this gel may be an option for people who are wondering whether there has been a tinnitus cure found. Researchers believe that the gel works by healing damaged nerve cells.

Pill

There is a new pill called AUT00063 that is being tested in the United Kingdom. It may not only treat tinnitus, but it may also stop hearing loss. The pill has a protein called Kv3. Scientists believe that one of the reasons that hearing problems occur is because Kv3 levels decline as one gets older. There has been a clinical trial conducted that involved 150 patients who suffered from tinnitus for six to 18 months. The results of the study showed that the pill can significantly improve tinnitus symptoms.

However, larger studies need to be conducted in order to test the effectiveness of this drug. Researchers are hoping that this drug will be available by year 2020.

Vagus Nerve Stimulation

Many people who are wondering there has been a tinnitus cure found have turned to vagus nerve stimulation. This treatment has already been approved for conditions like epilepsy and depression. Vagus nerve stimulation involves delivering electrical nerve pulses to the neck.

A small clinical trial has shown that 44 percent of the patients experienced relief from tinnitus. All of the subjects had suffered from tinnitus for at least one year. They had also failed to get relief with other treatments, such as medications and audio treatments. The Food and Drug Administration has not approved vagus nerve stimulation for tinnitus yet.

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Indexing cortical entrainment to natural speech at the phonemic level: Methodological considerations for applied research

Publication date: Available online 27 February 2017
Source:Hearing Research
Author(s): Giovanni M. Di Liberto, Edmund C. Lalor
Speech is central to human life. As such, any delay or impairment in receptive speech processing can have a profoundly negative impact on the social and professional life of a person. Thus, being able to assess the integrity of speech processing in different populations is an important goal. Current standardized assessment is mostly based on psychometric measures that do not capture the full extent of a person’s speech processing abilities and that are difficult to administer in some subjects groups. A potential alternative to these tests would be to derive “direct”, objective measures of speech processing from cortical activity. One such approach was recently introduced and showed that it is possible to use electroencephalography (EEG) to index cortical processing at the level of phonemes from responses to continuous natural speech. However, a large amount of data was required for such analyses. This limits the usefulness of this approach for assessing speech processing in particular cohorts for whom data collection is difficult. Here, we used EEG data from 10 subjects to assess whether measures reflecting phoneme-level processing could be reliably obtained using only 10 minutes of recording time from each subject. This was done successfully using a generic modeling approach wherein the data from a training group composed of 9 subjects were combined to derive robust predictions of the EEG signal for new subjects. This allowed the derivation of indices of cortical activity at the level of phonemes and the disambiguation of responses to specific phonetic features (e.g., stop, plosive, and nasal consonants) with limited data. This objective approach has the potential to complement psychometric measures of speech processing in a wide variety of subjects.



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Indexing cortical entrainment to natural speech at the phonemic level: Methodological considerations for applied research

Publication date: Available online 27 February 2017
Source:Hearing Research
Author(s): Giovanni M. Di Liberto, Edmund C. Lalor
Speech is central to human life. As such, any delay or impairment in receptive speech processing can have a profoundly negative impact on the social and professional life of a person. Thus, being able to assess the integrity of speech processing in different populations is an important goal. Current standardized assessment is mostly based on psychometric measures that do not capture the full extent of a person’s speech processing abilities and that are difficult to administer in some subjects groups. A potential alternative to these tests would be to derive “direct”, objective measures of speech processing from cortical activity. One such approach was recently introduced and showed that it is possible to use electroencephalography (EEG) to index cortical processing at the level of phonemes from responses to continuous natural speech. However, a large amount of data was required for such analyses. This limits the usefulness of this approach for assessing speech processing in particular cohorts for whom data collection is difficult. Here, we used EEG data from 10 subjects to assess whether measures reflecting phoneme-level processing could be reliably obtained using only 10 minutes of recording time from each subject. This was done successfully using a generic modeling approach wherein the data from a training group composed of 9 subjects were combined to derive robust predictions of the EEG signal for new subjects. This allowed the derivation of indices of cortical activity at the level of phonemes and the disambiguation of responses to specific phonetic features (e.g., stop, plosive, and nasal consonants) with limited data. This objective approach has the potential to complement psychometric measures of speech processing in a wide variety of subjects.



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