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Vestibular disorders

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https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#1
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28723718/three-dimensional-head-mounted-gaming-task-procedure-maximizes-effects-of-vestibular-rehabilitation-in-unilateral-vestibular-hypofunction-a-randomized-controlled-pilot-trial
#2
Alessandro Micarelli, Andrea Viziano, Ivan Augimeri, Domenico Micarelli, Marco Alessandrini
Considering the emerging advantages related to virtual reality implementation in clinical rehabilitation, the aim of the present study was to discover possible (i) improvements achievable in unilateral vestibular hypofunction patients using a self-assessed head-mounted device (HMD)-based gaming procedure when combined with a classical vestibular rehabilitation protocol (HMD group) as compared with a group undergoing only vestibular rehabilitation and (ii) HMD procedure-related side effects. Therefore, 24 vestibular rehabilitation and 23-matched HMD unilateral vestibular hypofunction individuals simultaneously underwent a 4-week rehabilitation protocol...
July 18, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/28723599/management-of-benign-paroxysmal-positional-vertigo-a-comparative-study-between-epleys-manouvre-and-betahistine
#3
Japneet Kaur, Karthik Shamanna
Benign paroxysmal positional vertigo (BPPV) is the most common peripheral vestibular disorder, accounting for 20% of all vertigo cases. Idiopathic BPPV is most common between the ages of 50 and 70, although the condition is found in all age groups. This study was conducted in our institute on 90 patients who presented to the outpatient department with history of vertigo and were diagnosed with BPPV via a positive Dix Hallpike test. Patients were randomnly placed in three groups of 30 each. Patients in Group A were treated with Epleys manoeuvre alone, in Group B were treated with Epleys Manouvre followed by oral Betahistine and patients in Group C were treated with Betahistine alone...
June 1, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28722100/-tailored-care-for-functional-vertigo-dizziness-an-integrative-group-psychotherapy-approach
#4
Katharina Radziej, Gabriele Schmid-Mühlbauer, Karina Limburg, Claas Lahmann
Functional vertigo and dizziness (VD) symptoms are highly prevalent and usually accompanied by a strong impairment of quality in everyday and working life. The complaints are often associated with various psychiatric disorders, particularly phobic and other anxiety disorders, depressive or somatoform disorders. Despite this clinical relevance of VD symptoms, studies towards psychotherapeutic treatment options for patients with functional VD are still rare. Thus, the present study outlines a manual for outpatient group therapy for patients with functional VD symptoms...
June 2017: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/28713423/discovering-the-unexpected-with-the-utilization-of-ngs-in-diagnostics-of-non-syndromic-hearing-loss-disorders-the-family-case-of-ildr1-dependent-hearing-loss-disorder
#5
Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Saba Battelino
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifesting as heterogeneous pre-lingual profound to severe non-progressive clinical phenotype. ILDR1-dependent ARNSHL (DFNB42, OMIM: # 609646) is a very rare sub-type of hearing disability, with unknown prevalence, caused by function-damaging genetic variants in ILDR1 gene reported in families of Middle-Eastern origin...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28713084/evalution-of-the-effectiveness-of-multimodal-approach-to-the-management-of-cervical-vertigo
#6
Olexandr A Jaroshevskyi, Oleksandr S Payenok, Anna V Logvinenko
INTRODUCTION: Vertigo is one of the most common complaints among patients consulting neurologists and general practitioners - family medicine. A special form of dizziness is cervical vertigo. However, the presence of chronic vertigo and imbalance in this group of patients makes it possible to include the treatment of vestibular rehabilitation in the program. AIM: Evalution of the effectiveness of multimodal approach to the management of cervical vertigo. MATERIAL AND METHODS: 109 patients aged from 18 to 45 with vertigo together with myofascial pain syndrome of neck and shoulder area were examined...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28705637/-do-children-with-attention-deficit-and-hyperactivity-disorder-adhd-have-a-diferent-gait-pattern-relationship-between-idiopathic-toe-walking-and-adhd
#7
Víctor Soto Insuga, Beatriz Moreno Vinués, Rebeca Losada Del Pozo, María Rodrigo Moreno, Marta Martínez González, Raquel Cutillas Ruiz, Carmen Mateos Carmen
INTRODUCTION: Idiopathic toe-walking (ITW) is described as a gait pattern with no contact between the heels and the ground in children older than 3years. The diagnosis is clinical, making it necessary to rule out other neurological and orthopaedic conditions. A relationship between ITW and vestibular dysfunction and/or proprioceptive sensibility has been proposed. Children with neurodevelopmental disorders (autism, language and cognitive disorders) often have ITW. OBJECTIVES: To determine the frequency of ITW in children with attention deficit disorder and hyperactivity (ADHD)...
July 10, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28705044/the-genetics-of-hair-cell-function-in-zebrafish
#8
Teresa Nicolson
Our ears are remarkable sensory organs, providing the important senses of balance and hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted neuroepithelia, have evolved to detect head movements and sounds with impressive sensitivity. The rub is that the inner ear is highly vulnerable to genetic lesions and environmental insults. According to National Institute of Health estimates, hearing loss is one of the most commonly inherited or acquired sensorineural diseases. To understand the causes of deafness and balance disorders, it is imperative to understand the underlying biology of the inner ear, especially the inner workings of the sensory receptors...
July 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28688530/japanese-standard-for-clinical-stabilometry-assessment-current-status-and-future-directions
#9
REVIEW
Masahiko Yamamoto, Kazuo Ishikawa, Mitsuhiro Aoki, Keisuke Mizuta, Yatsuji Ito, Masatsugu Asai, Hideo Shojaku, Toshiaki Yamanaka, Chisato Fujimoto, Toshihisa Murofushi, Tomoe Yoshida
Stabilometry is a useful tool for examining patients with functional disorders of the vestibular system. However, measurement techniques and devices vary by country. Therefore, international standardization of stabilometry is mandatory to validate the exchange of important findings. This was advocated at the 1983 Posturography Meeting in Kyoto but has not been adopted worldwide, and each country has continued to use unique regional measurement methods. In Japan, stabilometry has widespread application in medical practice in conjunction with research into its applications...
July 5, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28686374/-spatial-navigation-brief-overview-of-the-medicine-and-physiology-nobel-prize-2014
#10
Franciscus Boselie, Jean-Philippe Guyot
Various cells of the thalamus, hippocampus, and the medial entorhinal cortex plays a crucial role in spatial navigation ability. The highlighting of these cells and the understanding of their functioning by John O'Keefe, May-Britt and Edvard Moser have earned them the Nobel Prize for Medicine and Physiology in 2014. The vision, olfaction, and the vestibular system contribute to this complex system. These observations may well explain why patients with vestibular disorder complain of spatial disorientation, often a source of deep anxiety...
October 5, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28676057/prevalence-of-neurological-disorders-in-french-bulldog-a-retrospective-study-of-343-cases-2002-2016
#11
Vincent Mayousse, Loïc Desquilbet, Aurélien Jeandel, Stéphane Blot
BACKGROUND: French Bulldog (FB) has significantly gained in popularity over the last few years, and seems to be frequently affected by various neurological conditions. The purpose of this retrospective study was to report the prevalences of neurological diseases in a large population of FB, presented with neurological signs between 2002 and 2016, and for which a definitive diagnosis was established. A secondary objective was to identify epidemiological characteristics regarding specific diseases in this singular breed...
July 5, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28669509/out-of-body-experience-in-vestibular-disorders-a-prospective-study-of-210-patients-with-dizziness
#12
Christophe Lopez, Maya Elzière
Out-of-body experiences (OBEs) are states during which people experience their centre of awareness as located outside of their physical body, along with the sensation of seeing the environment from an elevated viewpoint. OBE is encountered in epilepsy, migraine and depersonalization, and it is not an uncommon experience in the general population. Current neuroscientific models of bodily self-consciousness consider that OBE are related to a failure to integrate visual, somatosensory and vestibular signals. These models have highlighted the importance of visual-vestibular mismatch in OBE...
June 8, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28662779/ocular-vestibular-evoked-myogenic-potential-in-patients-with-myasthenia-gravis-a-prospective-clinical-study
#13
Mohammad El-Sayed Mojahed, Elsaeid Mohamed Thabet, Mohamed Galal El-Khateeb, Ashraf Elsayed Morgan
OBJECTIVE: Myasthenia gravis (MG) is an archetypic disorder of neuromuscular junctions (NMJs) and autoantibody-mediated disease causing fatigable weakness of skeletal muscles with an ocular onset in up to 85%. The aim of this study was to detect extra ocular muscles (EOMs) abnormalities in MG patients using ocular vestibular evoked myogenic potential (oVEMP) n10 response. METHODS: The oVEMP was performed on 40 myasthenia gravis patients that were divided into three groups: newly diagnosed (10 patients), uncontrolled on treatment (15 patients) and controlled on treatment (15 patients) groups in addition to a control group of 10 subjects...
June 26, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28649224/the-video-head-impulse-test
#14
REVIEW
G M Halmagyi, Luke Chen, Hamish G MacDougall, Konrad P Weber, Leigh A McGarvie, Ian S Curthoys
In 1988, we introduced impulsive testing of semicircular canal (SCC) function measured with scleral search coils and showed that it could accurately and reliably detect impaired function even of a single lateral canal. Later we showed that it was also possible to test individual vertical canal function in peripheral and also in central vestibular disorders and proposed a physiological mechanism for why this might be so. For the next 20 years, between 1988 and 2008, impulsive testing of individual SCC function could only be accurately done by a few aficionados with the time and money to support scleral search-coil systems-an expensive, complicated and cumbersome, semi-invasive technique that never made the transition from the research lab to the dizzy clinic...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28648509/pendred-syndrome
#15
REVIEW
Jean-Louis Wémeau, Peter Kopp
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28642694/ehlers-danlos-syndrome-hypermobility-type-impact-of-somatosensory-orthoses-on-postural-control-a-pilot-study
#16
Emma G Dupuy, Pascale Leconte, Elodie Vlamynck, Audrey Sultan, Christophe Chesneau, Pierre Denise, Stéphane Besnard, Boris Bienvenu, Leslie M Decker
Elhers-Danlos syndrome (EDS) is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS) is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#17
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
July 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28631688/-benign-paroxysmal-positional-vertigo-modern-concepts-of-its-etiology-and-pathogenesis
#18
N L Kunel'skaya, N G Mokrysheva, A L Guseva, E V Baibakova, E A Manaenkova
The objective of the present review of the literature is the analysis of the currently available data concerning etiology and pathogenesis of benign paroxysmal positional vertigo (BPPV). The special emphasis is placed on the modern hypotheses of BPPV formation that collectively account for not more than 15% of all known cases of this condition. The best explored are the following causes of benign paroxysmal positional vertigo: vestibular neuronitis, head injuries, and disorders in the middle ear. During the recent years, much attention has been given to the role of disturbances of calcium metabolism and osteoporosis in etiology of benign paroxysmal positional vertigo...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28626444/aging-with-cerebral-small-vessel-disease-and-dizziness-the-importance-of-undiagnosed-peripheral-vestibular-disorders
#19
Niccolò Cerchiai, Michelangelo Mancuso, Elena Navari, Nicola Giannini, Augusto Pietro Casani
Recent studies showed a link between cerebral small vessel white matter disease (SVD) and dizziness: patients whose dizziness cannot be explained by vestibular disease show severe SVD and gait abnormalities; however, little is still known about how SVD can cause this symptom. The primary aim of this study is to examine the possible underlying causes of dizziness in neurovascular patients; this is in order to assess whether treatable causes could be routinely disregarded. A secondary aim is to possibly define a central oculomotor pattern induced per se by SVD...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28623390/disturbed-cervical-proprioception-affects-perception-of-spatial-orientation-while-in-motion
#20
Eva-Maj Malmström, Per-Anders Fransson, Terese Jaxmar Bruinen, Semir Facic, Fredrik Tjernström
The proprioceptive, visual and vestibular sensory systems interact to maintain dynamic stability during movement. The relative importance and interplay between these sensory systems is still not fully understood. Increased knowledge about spatial perception and postural orientation would provide better understanding of balance disorders, and their rehabilitation. Displacement of the body in space was recorded in 16 healthy subjects performing a sequence of stepping-in-place tests without any visual or auditory cues...
June 17, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
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