Isolated Myoclonus of the Vocal Folds in Alexander Disease

2021 ◽  
Author(s):  
Siyuan Fan ◽  
Yang Zhao ◽  
Hongzhi Guan
Keyword(s):  
Vocal Folds ◽  
Alexander Disease

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

Prospects for the use of omix-technologies in preclinical practice of production-related diseases of the voice

2020 ◽  
pp. 541-541
Author(s):  
Y. S. Alizade ◽  
L. B. Rudin
Keyword(s):  
At Risk ◽  
Minimally Invasive ◽  
Voice Disorders ◽  
Vocal Folds ◽  
The Voice

The potential predictive possibilities of minimally invasive prenosological diagnosis of voice disorders on the basis of combined Geno - and phenotyping of persons at risk of diseases of the vocal folds of professional origin.

Improved Model for Vocal Folds with a Polyp with Potential Application

2020 ◽  
Author(s):  
Jônatas Santos ◽  
Jugurta Montalvão ◽  
Israel Santos
Keyword(s):  
Potential Application ◽  
Vocal Folds ◽  
Improved Model

scholarly journals Vibrations of Nonlinear Elastic Structure Excited by Compressible Flow

2021 ◽  
Vol 11 (11) ◽  
pp. 4748
Author(s):  
Monika Balázsová ◽  
Miloslav Feistauer ◽  
Jaromír Horáček ◽  
Adam Kosík
Keyword(s):  
Compressible Flow ◽  
Nonlinear Elasticity ◽  
Vocal Tract ◽  
Stokes Equations ◽  
Vocal Folds ◽  
Nonlinear Material ◽  
Navier Stokes ◽  
Arbitrary Lagrangian Eulerian ◽  
Navier Stokes Equations ◽  
Reliable Solution

This study deals with the development of an accurate, efficient and robust method for the numerical solution of the interaction of compressible flow and nonlinear dynamic elasticity. This problem requires the reliable solution of flow in time-dependent domains and the solution of deformations of elastic bodies formed by several materials with complicated geometry depending on time. In this paper, the fluid–structure interaction (FSI) problem is solved numerically by the space-time discontinuous Galerkin method (STDGM). In the case of compressible flow, we use the compressible Navier–Stokes equations formulated by the arbitrary Lagrangian–Eulerian (ALE) method. The elasticity problem uses the non-stationary formulation of the dynamic system using the St. Venant–Kirchhoff and neo-Hookean models. The STDGM for the nonlinear elasticity is tested on the Hron–Turek benchmark. The main novelty of the study is the numerical simulation of the nonlinear vocal fold vibrations excited by the compressible airflow coming from the trachea to the simplified model of the vocal tract. The computations show that the nonlinear elasticity model of the vocal folds is needed in order to obtain substantially higher accuracy of the computed vocal folds deformation than for the linear elasticity model. Moreover, the numerical simulations showed that the differences between the two considered nonlinear material models are very small.

scholarly journals Concurrent YAP/TAZ and SMAD signaling mediate vocal fold fibrosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ryosuke Nakamura ◽  
Nao Hiwatashi ◽  
Renjie Bing ◽  
Carina P. Doyle ◽  
Ryan C. Branski
Keyword(s):  
Vocal Fold ◽  
Vocal Folds ◽  
Nuclear Accumulation ◽  
Smad Pathway ◽  
Surgical Interventions ◽  
Smad Signaling ◽  
Iatrogenic Damage ◽  
Tgf Β1

AbstractVocal fold (VF) fibrosis is a major cause of intractable voice-related disability and reduced quality of life. Excision of fibrotic regions is suboptimal and associated with scar recurrence and/or further iatrogenic damage. Non-surgical interventions are limited, putatively related to limited insight regarding biochemical events underlying fibrosis, and downstream, the lack of therapeutic targets. YAP/TAZ integrates diverse cell signaling events and interacts with signaling pathways related to fibrosis, including the TGF-β/SMAD pathway. We investigated the expression of YAP/TAZ following vocal fold injury in vivo as well as the effects of TGF-β1 on YAP/TAZ activity in human vocal fold fibroblasts, fibroblast-myofibroblast transition, and TGF-β/SMAD signaling. Iatrogenic injury increased nuclear localization of YAP and TAZ in fibrotic rat vocal folds. In vitro, TGF-β1 activated YAP and TAZ in human VF fibroblasts, and inhibition of YAP/TAZ reversed TGF-β1-stimulated fibroplastic gene upregulation. Additionally, TGF-β1 induced localization of YAP and TAZ in close proximity to SMAD2/3, and nuclear accumulation of SMAD2/3 was inhibited by a YAP/TAZ inhibitor. Collectively, YAP and TAZ were synergistically activated with the TGF-β/SMAD pathway, and likely essential for the fibroplastic phenotypic shift in VF fibroblasts. Based on these data, YAP/TAZ may evolve as an attractive therapeutic target for VF fibrosis.

scholarly journals A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle

2021 ◽  
pp. 355-360
Author(s):  
Tongjia Cai ◽  
Sisi Jing ◽  
Ying Li ◽  
Jianjun Wu
Keyword(s):  
White Matter ◽  
Contrast Enhancement ◽  
Medulla Oblongata ◽  
Lateral Ventricle ◽  
Brain Lesion ◽  
Alexander Disease ◽  
Adult Onset ◽  
White Matter Abnormality ◽  
Frontal White Matter ◽  
Upper Cervical

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (<i>GFAP</i>). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. <i>GFAP</i> sequencing revealed a heterogeneous missense mutation point c.236G&#x3e;A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.

scholarly journals Syringeal vocal folds do not have a voice in zebra finch vocal development

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alyssa Maxwell ◽  
Iris Adam ◽  
Pernille S. Larsen ◽  
Peter G. Sørensen ◽  
Coen P. H. Elemans
Keyword(s):  
Zebra Finch ◽  
Neural Circuit ◽  
Vocal Folds ◽  
Pressure Control ◽  
The Body ◽  
Vocal Development ◽  
Postnatal Maturation ◽  
Song System ◽  
Property Changes

AbstractVocal behavior can be dramatically changed by both neural circuit development and postnatal maturation of the body. During song learning in songbirds, both the song system and syringeal muscles are functionally changing, but it is unknown if maturation of sound generators within the syrinx contributes to vocal development. Here we densely sample the respiratory pressure control space of the zebra finch syrinx in vitro. We show that the syrinx produces sound very efficiently and that key acoustic parameters, minimal fundamental frequency, entropy and source level, do not change over development in both sexes. Thus, our data suggest that the observed acoustic changes in vocal development must be attributed to changes in the motor control pathway, from song system circuitry to muscle force, and not by material property changes in the avian analog of the vocal folds. We propose that in songbirds, muscle use and training driven by the sexually dimorphic song system are the crucial drivers that lead to sexual dimorphism of the syringeal skeleton and musculature. The size and properties of the instrument are thus not changing, while its player is.

High-Speed Imaging to Study an Auto-Oscillating Vocal Fold Replica for Different Initial Conditions

2017 ◽  
Vol 09 (05) ◽  
pp. 1750064 ◽  
Author(s):  
A. Van Hirtum ◽  
X. Pelorson
Keyword(s):  
Vocal Fold ◽  
High Speed ◽  
Initial Conditions ◽  
Vocal Folds ◽  
High Speed Imaging ◽  
Human Voice ◽  
Manual Intervention ◽  
Geometrical Features ◽  
Upstream Pressure

Experiments on mechanical deformable vocal folds replicas are important in physical studies of human voice production to understand the underlying fluid–structure interaction. At current date, most experiments are performed for constant initial conditions with respect to structural as well as geometrical features. Varying those conditions requires manual intervention, which might affect reproducibility and hence the quality of experimental results. In this work, a setup is described which allows setting elastic and geometrical initial conditions in an automated way for a deformable vocal fold replica. High-speed imaging is integrated in the setup in order to decorrelate elastic and geometrical features. This way, reproducible, accurate and systematic measurements can be performed for prescribed initial conditions of glottal area, mean upstream pressure and vocal fold elasticity. Moreover, quantification of geometrical features during auto-oscillation is shown to contribute to the experimental characterization and understanding.

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