RESUMEN
Objective:To establish the normal values of subjective visual vertical ï¼SVVï¼ in different head deflection angles and analyze its test and retest reliability, in order to provide a reference for the clinical application of SVV in the evaluation of vestibular disorders. Methods:Thirty-one healthy young people were selected to wear VR glasses, and the SVV data were tested in five different head-tilt, namely, 0° in the upright head position, 45°in the left head position, 45° in the right head position, 90° in the left head position, and 90° in the right head position, and were re-tested 2 weeks later. Results:â The mean values of SVV at 5 different head-tilt angles of 0°, left 45°, right 45°, left 90°, and right 90° were -0.07±1.71, 4.30±5.39, -6.51±5.58, -3.76±7.42, and 0.40±8.02, respectively, The 95% confidence limits of SVV at 0°, left 45°, right 45°, left 90°, right 90°, and right 90° were ï¼-3.42, 3.28ï¼, ï¼-6.26, 14.86ï¼, ï¼-17.45, 4.43ï¼, ï¼-18.30, 10.78ï¼, andï¼-15.32, 16.12ï¼, respectively; â¡The absolute values of SVV at 4 different head-tilt angles of left 45°, right 45°, left 90°, and right 90° were 5.62±3.96, 6.90±5.07, 6.82±4.70 and 6.48±4.68, respectively. The 95% confidence limits of SVV at left 45°, right 45°, left 90°, right 90°, and right 90° wereï¼0ï¼12.11ï¼,ï¼0ï¼15.21ï¼,ï¼0ï¼14.53ï¼andï¼0ï¼14.16ï¼, respectively. The asymmetry ratio is 10% for the absolute value of the 45 ° deviation and 3% for the absolute value of the 90° deviation; â¢Intra-class correlation coefficientsï¼ICCï¼ for 0°, left 45°, right 45°, left 90°, right 90°were 0.757, 0.673, 0.674, 0.815, and 0.856, respectively. Conclusion:SVV has good retest reliability and high stability, and the SVV normal value data of different head deviation angles established in the present study can be used as a reference for the diagnosis and evaluation of vestibular disorders.
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Cabeza , Humanos , Reproducibilidad de los Resultados , Adulto Joven , Masculino , Femenino , Adulto , Postura , Enfermedades Vestibulares/diagnóstico , Valores de Referencia , Pruebas de Función Vestibular/métodosRESUMEN
BACKGROUND: Vestibular Activities and Participation Measure (VAP) subscales assess the effect of vestibular disorders on activity and participation. This study aimed to perform the cross-cultural adaptation and assess the validity, internal consistency, reliability, and measurement error of the Brazilian version of VAP subscales. METHODS: The cross-cultural adaptation followed the translation, synthesis, back-translation, review by a committee of experts, and pretesting phases. Structural validity was assessed using exploratory factor analysis (EFA) and confirmatory factor analysis (CFA), while Spearman's correlation between VAP subscales and the Dizziness Handicap Inventory (DHI) was used to assess construct validity. Cronbach's alpha measured internal consistency. Intraclass correlation coefficient (ICC) assessed intra- and inter-rater reliability, and measurement error was calculated by using the standard error of measurement (SEM) and minimal detectable change (MDC). RESULTS: Additional information was included in the Brazilian version of the Vestibular Activities and Participation measure (VAP-BR) after approval by one of the developers of the instrument to improve the understanding among individuals. One factor was found in the EFA for each subscale with 50% explained variance. Regarding CFA, the subscales 1 (S1) and 2 (S2) presented, respectively, adequate model fit indices (ie, comparative fit index of 0.99 and 0.97, and standardized root mean square residual of 0.04 for both subscales), but a very low factor load in item 6 of S1 (0.08). Chronbach's alpha was 0.80 (S1) and 0.82 (S2). For intra-rater assessment, the S1 and S2 presented an ICC of 0.87 and 0.90, SEM of 0.01 and 1.16, and MDC of 0.39 and 0.46, respectively. When assessed by 2 different raters, SEM values were 1.03 and 1.53, and MDC values were 2.85 and 4.23 for S1 and S2, respectively; both subscales showed an ICC of 0.92. Correlations between DHI and VAP subscales presented coefficients above 0.57. CONCLUSION: The Brazilian version of VAP subscales presents good measurement properties and may assist health professionals in identifying activity limitations and participation restrictions in individuals with vestibular disorders.
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Comparación Transcultural , Traducciones , Enfermedades Vestibulares , Humanos , Brasil , Reproducibilidad de los Resultados , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/fisiopatología , Femenino , Masculino , Persona de Mediana Edad , Adulto , Encuestas y Cuestionarios/normas , Psicometría , Evaluación de la Discapacidad , Análisis Factorial , AncianoRESUMEN
BACKGROUND: Acute and complete unilateral vestibular deafferentation induces a significant change in ipsilateral vestibuloocular reflex gain, making the patient unable to stabilize gaze during active or passive head movements. This inability creates the illusion that the visual environment is moving, resulting in persistent visual discomfort during rapid angular or linear acceleration of the head. This is known as oscillopsia. Our objective was to understand if the spontaneous sensation of oscillopsias after complete unilateral vestibular deafferentation by vestibular neurotomy at 5 days (D5) and at 3 months (M3) is correlated with the loss of vestibuloocular reflex gain and dynamic visual acuity. METHODS: Retrospective cohort study was conducted in an otolaryngology tertiary care center (2019-2022) on patients with complete unilateral vestibular loss by vestibular neurotomy. They were divided into 2 groups according to the presence (group G1) or absence (group G2) of a spontaneous complaint of oscillopsia assessed at M3. Severity of oscillopsias evaluated by Oscillopsia Severity Questionnaire. Vestibuloocular reflex gain based on video head impulse test (vHIT) and the dynamic visual acuity were measured for each group at D5 and M3. Categorical variables were compared using χ2 test and quantitative variables using the nonparametric Wilcoxon-Mann-Whitney test. RESULTS: All patients have a complete vestibular deafferentation at D5 and M3. At D5 (G1 = 8 patients, G2 = 5 patients), there is no significant difference for ipsilateral and contralateral vestibuloocular reflex gains and dynamic visual acuity losses. The Oscillopsia Severity Questionnaire was 2.68 ± 1.03 in G1 and 1.23 ± 1.03 in G2 (P < .05). At M3 (G1 = 9 patients, G2 = 6 patients), there is no significant difference between groups for epidemiologic and clinical data and for vestibuloocular reflex and dynamic visual acuity losses. The Oscillopsia Severity Questionnaire was 2.10 ± 0.63 in G1 and 1.24 ± 0.28 in G2 (P < .05). CONCLUSIONS: The spontaneous disabling sensation of oscillopsia after complete unilateral vestibular loss is well assessed by the Oscillopsia Severity Questionnaire but cannot be explained by objective vestibular tests assessing vestibuloocular reflex gain (vHIT) or dynamic visual acuity loss at D5 or M3. Further studies are needed to measure the sensation of oscillopsia under real-life conditions and to identify the factors responsible for its persistence. TRIAL REGISTRATION: Retrospectively registered.
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Reflejo Vestibuloocular , Agudeza Visual , Humanos , Reflejo Vestibuloocular/fisiología , Estudios Retrospectivos , Masculino , Femenino , Persona de Mediana Edad , Agudeza Visual/fisiología , Adulto , Anciano , Enfermedades Vestibulares/fisiopatologíaRESUMEN
One of the main causes of the of the inner ear pathology is a viral infection including SARS-CoV-2 virus. On the other hand the psycho-emotional state of patients also affects patients with hearing loss, tinnitus and dizziness, and an increase in depression and anxiety was revealed during the period of self-isolation. Goal of our study was to analyze cochleovestibular pathology in patients with COVID-19. The study involved 84 patients and the leading complaint was hearing loss - in 70 patients, tinnitus - in 54 patients, dizziness - in 50 patients. In addition, an increased anxiety background was found in patients, as well as signs of depression. Thus, the 2020 pandemic period was a high risk period for patients with inner ear pathology, which may be associated not only with the actual pathological effect of the virus on the auditory and vestibular system, but also with changes in the psycho-emotional status of patients.
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COVID-19 , Mareo , Acúfeno , Humanos , COVID-19/complicaciones , COVID-19/epidemiología , COVID-19/psicología , Masculino , Femenino , Acúfeno/etiología , Acúfeno/diagnóstico , Persona de Mediana Edad , Mareo/etiología , Mareo/fisiopatología , Adulto , SARS-CoV-2 , Pérdida Auditiva/etiología , Pérdida Auditiva/diagnóstico , Ansiedad/etiología , Ansiedad/diagnóstico , Depresión/etiología , Depresión/diagnóstico , Enfermedades Vestibulares/etiología , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/fisiopatologíaRESUMEN
Hyperventilation-induced nystagmus test (HINT) is capable of generating a response in 77.2% of cases of acute unilateral vestibulopathy (AUVP); both nystagmus toward the affected side (excitatory pattern) and toward the healthy side (inhibitory pattern) have been described. The aim of the study is to investigate the clinical and prognostic role of the test by evaluating its correlation with vestibulo-ocular reflex (VOR) gain. We evaluated 33 AUVP patients by performing the HINT and video head impulse test (V-HIT) during the acute phase and then at 15 and 90 days after the onset of the symptoms. The correlation between the VOR gain of the affected side and test responses was evaluated first, phase by phase, and then considering the pattern shown during the first assessments. Patients with a negative HINT had a higher mean VOR gain than patients with a positive test at both 15 and 90 days. Patients who showed an inhibitory pattern at the first assessment had a continuous improvement in V-HIT performance, while patients with an initial excitatory response had a transient decrease in gain at the subsequent evaluation (P=.001). No difference between these 2 groups emerged at 90 days (P=.09). The finding of a negative HINT during the follow-up correlates with good V-HIT performance and could be an indicator of good recovery. The inhibitory pattern is associated with a subsequent improvement; and it would be indicative of compensation. but, despite this, the prognostic value of the test is limited.
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Prueba de Impulso Cefálico , Hiperventilación , Nistagmo Patológico , Reflejo Vestibuloocular , Humanos , Reflejo Vestibuloocular/fisiología , Masculino , Hiperventilación/fisiopatología , Hiperventilación/complicaciones , Femenino , Persona de Mediana Edad , Nistagmo Patológico/fisiopatología , Nistagmo Patológico/diagnóstico , Prueba de Impulso Cefálico/métodos , Adulto , Anciano , Enfermedad Aguda , Enfermedades Vestibulares/fisiopatología , Enfermedades Vestibulares/diagnóstico , Pruebas de Función Vestibular/métodos , PronósticoRESUMEN
Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D (KMT2D; OMIM 602113) variants, is a rare congenital disorder with multi-organ deficiencies. To date, there have been no reported cases of MAS in patients with KS. This report describes a case of a 22-year-old male with Kabuki syndrome (KS) who developed MAS. This unique case not only deepens the understanding of the involvement of KMT2D in immune regulation and disease, but expands the phenotype of the adult patient to better understand the natural history, disease burden, and management of patients with KS complicated with autoimmune disorders.
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Anomalías Múltiples , Cara , Enfermedades Hematológicas , Síndrome de Activación Macrofágica , Enfermedades Vestibulares , Humanos , Masculino , Enfermedades Vestibulares/etiología , Enfermedades Vestibulares/genética , Enfermedades Vestibulares/diagnóstico , Enfermedades Hematológicas/etiología , Enfermedades Hematológicas/diagnóstico , Cara/anomalías , Anomalías Múltiples/genética , Síndrome de Activación Macrofágica/diagnóstico , Síndrome de Activación Macrofágica/etiología , Adulto Joven , Proteínas de Neoplasias/genética , Fenotipo , N-Metiltransferasa de Histona-Lisina/genética , Proteínas de Unión al ADN/genéticaRESUMEN
BACKGROUND: Assessment of nystagmus fixation suppression can be used as an additional diagnostic tool for patients with an acute vestibular syndrome to distinguish between a central or peripheral cause. We investigated the ability of physicians to detect fixation suppression using a nystagmus simulation model. METHODS: We used a nystagmus simulator to measure the accuracy of the nystagmus fixation suppression test. Fixation suppression was assessed randomly in 6170 trials by 20 otorhinolaryngologists and neurologists, segregated into 2 groups based on their neurootological experience, a beginner and an experienced group. The simulator presented random nystagmus slow velocity (SPV) reductions and presented 3 conditions with either changed nystagmus frequency, amplitude, or both. RESULTS: The cutoff for the discernment of fixation suppression ranged from 1.2 to 14°/s nystagmus velocity difference. The more intense the baseline nystagmus was, the more difficult was the detection of fixation suppression. There was not significant difference (P >.05) in the cutoff values in the experts group compared to the novices for all 3 different conditions. Both, novices and experts, detected frequency changes easier than differences of the nystagmus amplitude. Test sensitivity was very low (19%-65%) for discernment of small nystagmus velocity differences of <2°/s by experts. CONCLUSION: In our study, there was no difference between experts and novices in detection of nystagmus suppression by visual fixation. The examiners could only detect large suppression effects at low-intensity baseline nystagmus. Overall, the sensitivity and accuracy of a clinical fixation suppression test is low and the assistance with a video-oculography device is highly recommended.
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Fijación Ocular , Nistagmo Patológico , Enfermedades Vestibulares , Pruebas de Función Vestibular , Humanos , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/fisiopatología , Fijación Ocular/fisiología , Pruebas de Función Vestibular/métodos , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/fisiopatología , Sensibilidad y Especificidad , Competencia Clínica , Masculino , Femenino , Adulto , Nistagmo Fisiológico/fisiologíaRESUMEN
The issuing of International Classification of Vestibular Disordersï¼ICVDï¼ by Bî¤rî¤ny societyï¼2015ï¼ greatly facilitates the progress of vestibular medicine. The syndromic classification of vestibular disorders by ICVD enable the physician to narrow the spectrum of differential diagnosis for the vestibular disorder in clinical practice. However, the division of vestibular pathway, especially the central vestibular system, has not be classified yet in the ICVDï¼2015ï¼. Central vertigo, being a group of heterogeneous disorders, may present diverse clinical spectrums. The misdiagnosis of central vestibular as well as peripheral vestibular disorders have been reported in the clinic practice. Therefore, the author by review study proposes a structural classification of vestibular disorders combined the Vestibular System Functional Anatomy Division with Syndromesï¼VeSFADSï¼. The VeSFADS classification of vestibular disorders could help the physician in clinical practice to narrow the spectrum of vestibular disorders, in addition to the syndromic classification, by the clinical feature of vestibular disorders from different division of vestibular system. And the VeSFADS classification of vestibular disorders may facilitate to clarify the clinical features of vestibular disorders at different Division of vestibular pathway.
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Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/clasificación , Enfermedades Vestibulares/diagnóstico , Diagnóstico Diferencial , Vértigo/clasificación , Vértigo/diagnóstico , Vestíbulo del Laberinto/patología , SíndromeRESUMEN
Large vestibular aqueduct syndromeï¼LVASï¼ is a common recessive hereditary hearing loss disease, and some patients may also experience vestibular dysfunction. With the wide application of cochlear implantï¼CIï¼ and the development of vestibular medicine, the pathophysiological mechanism of LVAS and the influence mechanism of CI on vestibular function are gradually elucidated. Consequently, the evaluation and rehabilitation of vestibular dysfunction function have also become research hotspots. This article reviews studies on vestibular function and related rehabilitation in patients with large vestibular aqueduct syndrome.
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Acueducto Vestibular , Humanos , Acueducto Vestibular/anomalías , Implantes Cocleares , Enfermedades Vestibulares/rehabilitación , Enfermedades Vestibulares/fisiopatología , Implantación Coclear , Pérdida Auditiva Sensorineural/rehabilitación , Pérdida Auditiva Sensorineural/fisiopatología , Vestíbulo del Laberinto/fisiopatologíaRESUMEN
Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums of the KMT2C-related NDD (now designated as Kleefstra syndrome 2) are largely unknown. We ascertained 98 individuals with rare KMT2C variants, including 75 with protein-truncating variants (PTVs). Notably, â¼15% of KMT2C PTVs were inherited. Although the most highly expressed KMT2C transcript consists of only the last four exons, pathogenic PTVs were found in almost all the exons of this large gene. KMT2C variant interpretation can be challenging due to segmental duplications and clonal hematopoesis-induced artifacts. Using samples from 27 affected individuals, divided into discovery and validation cohorts, we generated a moderate strength disorder-specific KMT2C DNA methylation (DNAm) signature and demonstrate its utility in classifying non-truncating variants. Based on 81 individuals with pathogenic/likely pathogenic variants, we demonstrate that the KMT2C-related NDD is characterized by developmental delay, intellectual disability, behavioral and psychiatric problems, hypotonia, seizures, short stature, and other comorbidities. The facial module of PhenoScore, applied to photographs of 34 affected individuals, reveals that the KMT2C-related facial gestalt is significantly different from the general NDD population. Finally, using PhenoScore and DNAm signatures, we demonstrate that the KMT2C-related NDD is clinically and epigenetically distinct from Kleefstra and Kabuki syndromes. Overall, we define the clinical features, molecular spectrum, and DNAm signature of the KMT2C-related NDD and demonstrate they are distinct from Kleefstra and Kabuki syndromes highlighting the need to rename this condition.
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Anomalías Múltiples , Deleción Cromosómica , Cromosomas Humanos Par 9 , Anomalías Craneofaciales , Metilación de ADN , Proteínas de Unión al ADN , Cara , Enfermedades Hematológicas , Discapacidad Intelectual , Trastornos del Neurodesarrollo , Enfermedades Vestibulares , Humanos , Anomalías Múltiples/genética , Enfermedades Vestibulares/genética , Discapacidad Intelectual/genética , Cara/anomalías , Cara/patología , Proteínas de Unión al ADN/genética , Masculino , Femenino , Enfermedades Hematológicas/genética , Trastornos del Neurodesarrollo/genética , Anomalías Craneofaciales/genética , Cromosomas Humanos Par 9/genética , Niño , Metilación de ADN/genética , Preescolar , Proteínas de Neoplasias/genética , Adolescente , Hipertricosis/genética , Mutación , Insuficiencia de Crecimiento/genética , N-Metiltransferasa de Histona-Lisina/genética , Cardiopatías CongénitasRESUMEN
INTRODUCTION: Recently, end-point nystagmus, traditionally observed in an upright position, has been identified in the Dix-Hallpike position among healthy subjects, suggesting a physiological origin.However, its characteristics in individuals with vestibular hypofunction remain unexplored. OBJECTIVE: To elucidate the impact of vestibular hypofunction on the characteristics of positional end-point nystagmus. METHODS: Thirty-one patients diagnosed with acute unilateral vestibulopathy according to Bárány Society criteria were selected. A video head impulse test was conducted in all participants, followed by McClure and Dix-Hallpike maneuvers with and without gaze fixation, and with the initial position of the eye in the straight-ahead position or in the horizontal end-point position. Nystagmus direction, sense, latency, slow-phase velocity, and duration were recorded. The relationship between these characteristics and video head impulse test values was analyzed. RESULTS: Positional end-point nystagmus was observed in 92.6% of subjects with vestibular hypofunction, significantly more than in healthy individuals. Nystagmus direction varied depending on the performed positional test and on the vestibulo-ocular reflex gains. Gaze occlusion and the initial horizontal end-point position increased its frequency. CONCLUSION: Vestibular hypofunction influences the manifestation of positional end-point nystagmus. Recognizing this nystagmus can aid in resolving diagnostic uncertainties and preventing the misdiagnosis of benign paroxysmal positional vertigo in subjects with acute unilateral vestibulopathy.
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Prueba de Impulso Cefálico , Nistagmo Patológico , Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/fisiopatología , Adulto , Prueba de Impulso Cefálico/métodos , Nistagmo Fisiológico/fisiología , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/fisiopatología , Anciano de 80 o más Años , Pruebas de Función Vestibular/métodos , Neuronitis Vestibular/diagnóstico , Neuronitis Vestibular/fisiopatología , Neuronitis Vestibular/complicaciones , Reflejo Vestibuloocular/fisiologíaRESUMEN
OBJECTIVE: To explore the experiences, current approaches, opinions and awareness of healthcare professionals (HCPs) caring for adults with traumatic brain injury (TBI) regarding the audio-vestibular consequences. DESIGN/SETTING: Cross-sectional online survey study. PARTICIPANTS: HCPs with experience of caring for adults with TBI, who were not ENT (ear nose throat) specialists or audiologists. METHODS: The study was conducted from May 2022 to December 2022. The online survey consisted of 16 closed and open-text questions in English and Turkish about clinical experience, current approaches and awareness of audio-vestibular consequences following TBI. Frequencies of responses to closed questions and associations between variables were analysed using SPSS V.28. Open-text responses were summarised in Microsoft Excel. RESULTS: Seventy HCPs participated from 17 professions and 14 countries, with the majority from the UK (42.9%). HCPs stated that 'some' to 'all' of their patients had auditory problems such as 'inability to understand speech-in-noise' (66%), 'tinnitus' (64%), 'hyperacusis' (57%) and balance problems such as 'dizziness' (79%) and 'vertigo' (67%). Usually, HCPs asked about the balance status of patients at appointments and when they observed dizziness and/or balance disorder they used screening tests, most commonly finger-to-nose (53%). For auditory impairments, HCPs preferred referring patients with TBI to audiology/ENT services. However, 6% of HCPs felt that audio-vestibular conditions could be ignored on referral because patients with TBI struggled with many impairments. Additionally, 44% would suggest hearing aids to patients with TBI with hearing loss 'if they would like to use' rather than 'definitely'. CONCLUSIONS: Many audio-vestibular impairments are observed by HCPs caring for patients with TBI. The assessment and intervention opinions and awareness of HCPs for these impairments vary. However, non-expert HCPs may not be aware of negative consequences of untreated audio-vestibular impairments following TBI. Therefore, developing a simple framework for screening and indications of audio-vestibular impairments for referral may be helpful for non-audiological specialists regularly seeing these patients.
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Lesiones Traumáticas del Encéfalo , Humanos , Lesiones Traumáticas del Encéfalo/complicaciones , Lesiones Traumáticas del Encéfalo/psicología , Estudios Transversales , Adulto , Masculino , Femenino , Personal de Salud/psicología , Encuestas y Cuestionarios , Actitud del Personal de Salud , Conocimientos, Actitudes y Práctica en Salud , Persona de Mediana Edad , Enfermedades Vestibulares/etiologíaRESUMEN
BACKGROUND: To improve diagnostic precision in pediatric vertigo, particularly in Vestibular Migraine of Childhood (VMC), probable VMC (pVMC), Recurrent Vertigo of Childhood (RVC), and unspecified categories, by delineating clinical characteristics and prevalence to refine diagnostics and treatments. METHODS: Retrospective analysis of 102 pediatric patients (five to 18 years; 46 females, 56 males) at the Dizziness Center of the Otolaryngology Department in a tertiary-level hospital from January 2019 to December 2023. Patients were classified into VMC, pVMC, RVC, and indeterminate groups. Evaluations included audiometry and vestibular tests (video head impulse test [vHIT] or caloric testing), conducted in the audiology unit and vestibular testing laboratory. Data were analyzed using IBM SPSS 20.0. RESULTS: Diagnoses were 8.8% VMC, 31.4% pVMC, 51.0% RVC, and 8.8% indeterminate. Nausea and vomiting were common in VMC and pVMC; cochlear symptoms like tinnitus and hearing loss predominated in VMC. Although vestibular testing showed no significant group differences, VMC had more vHIT abnormalities and RVC had more caloric test anomalies. CONCLUSIONS: This study highlights the need for comprehensive diagnostics in pediatric vestibular disorders, revealing unique and overlapping traits across VMC, pVMC, and RVC. Insights call for further research to refine diagnostic criteria and improve treatment methods.
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Trastornos Migrañosos , Centros de Atención Terciaria , Vértigo , Humanos , Femenino , Masculino , Niño , Adolescente , Vértigo/diagnóstico , Vértigo/etiología , Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/complicaciones , Estudios Retrospectivos , Preescolar , Enfermedades Vestibulares/diagnóstico , Recurrencia , Pruebas de Función Vestibular , Prueba de Impulso Cefálico , Pruebas CalóricasRESUMEN
BACKGROUND: Cerebellar ataxia, neuropathy and bilateral vestibular areflexia (CANVAS) is a rare neurodegenerative disease affecting the cerebellum, the peripheral nervous system and the vestibular system. Due to the lack of approved drugs, therapy comprises physiotherapy and speech therapy. Transcranial magnetic stimulation is a promising non-invasive therapeutic option to complement classical symptomatic therapies. OBJECTIVE: To test feasibility of the combination of transcranial magnetic stimulation using an accelerated protocol and standard symptomatic therapy in patients with CANVAS. METHODS: Eight patients with genetically confirmed CANVAS were assigned to either verum or sham cerebellar transcranial magnetic stimulation using an accelerated protocol. Treatment duration was limited to 5 days. Additionally, patients in both groups received symptomatic therapy (speech and physiotherapy) for the duration of the study. RESULTS: All patients completed the stimulation protocol. Adverse events were rare. Ataxia severity improved in the verum group only. CONCLUSION: The combination of transcranial magnetic stimulation and classic symptomatic therapy is feasible in a neuro-rehabilitation setting and potentially ameliorates ataxia severity.
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Estudios de Factibilidad , Modalidades de Fisioterapia , Estimulación Magnética Transcraneal , Humanos , Estimulación Magnética Transcraneal/métodos , Proyectos Piloto , Masculino , Persona de Mediana Edad , Femenino , Terapia Combinada , Adulto , Cerebelo , Anciano , Ataxia Cerebelosa/rehabilitación , Ataxia Cerebelosa/terapia , Resultado del Tratamiento , Enfermedades Vestibulares/rehabilitación , Enfermedades Vestibulares/terapiaRESUMEN
OBJECTIVES: This study aims to provide an overview of dizziness post head injury in those with prominent features for central vestibular dysfunction (CVD) in comparison to those with a post-traumatic peripheral vestibular etiology. STUDY DESIGN: Retrospective. SETTING: University Health Network (UHN) Workplace Safety and Insurance Board (WSIB) database from 1988 to 2018 were evaluated for post-traumatic dizziness. METHODS: The UHN WSIB neurotology database (n = 4291) between 1998 and 2018 was retrospectively studied for head-injured workers presenting with features for CVD associated with trauma. All patients had a detailed neurotological history and examination, audiovestibular testing that included video nystagmography (VNG) and cervical vestibular-evoked myogenic potentials (cVEMPs). Imaging studies including routine brain and high-resolution temporal bone computed tomography (CT) scans and/or intracranial magnetic resonance imaging (MRI) were available for the majority of injured workers. RESULTS: Among 4291 head-injured workers with dizziness, 23 were diagnosed with features/findings denoting CVD. Complaints of imbalance were significantly more common in those with CVD compared to vertigo and headache in those with peripheral vestibular dysfunction. Atypical positional nystagmus, oculomotor abnormalities and facial paralysis were more common in those with CVD. CONCLUSION: Symptomatic post-traumatic central vestibular injury is uncommon. It occurred primarily following high-impact trauma and was reflective for a more severe head injury where shearing effects on the brain often resulted in diffuse axonal injury. Complaints of persistent imbalance and ataxia were more common than complaints of vertigo. Eye movement abnormalities were highly indicative for central nervous system injury even in those with minimal change on CT/MRI.
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Traumatismos Craneocerebrales , Mareo , Enfermedades Vestibulares , Humanos , Estudios Retrospectivos , Masculino , Traumatismos Craneocerebrales/complicaciones , Traumatismos Craneocerebrales/fisiopatología , Femenino , Adulto , Mareo/etiología , Mareo/fisiopatología , Persona de Mediana Edad , Enfermedades Vestibulares/etiología , Enfermedades Vestibulares/fisiopatología , Enfermedades Vestibulares/diagnóstico , Potenciales Vestibulares Miogénicos Evocados , Pruebas de Función Vestibular , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVES: To examine the effects of Cawthorne-Cooksey exercises on individuals with vestibular dysfunction symptoms. METHODS: Systematic search was conducted using PubMed, EBSCO SCOPUS, Web of Science, and Google Scholar from inception to March 2023. The Physiotherapy Evidence Database (PEDro) scale was employed to evaluate the risk of bias in the included studies. RESULTS: Ten randomized controlled trials met the eligibility criteria. In total, 610 participants, 41.31 % of whom were men were included in this review. The PEDro scale scores ranged from 6 to 8 with a median of 6.5/10. Our findings revealed improvements in patients' vestibular dysfunction symptoms after Cawthorne-Cooksey exercises and other conventional interventions. CONCLUSIONS: The initial findings showed that Cawthorne-Cooksey exercises are not superior to other concurrent vestibular rehabilitation interventions in improving vestibular dysfunction symptoms. Additional trials with long-term follow-ups are strongly recommended to understand the impacts of Cawthorne-Cooksey exercises on vestibular dysfunction symptoms.
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Terapia por Ejercicio , Ensayos Clínicos Controlados Aleatorios como Asunto , Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/rehabilitación , Terapia por Ejercicio/métodos , Equilibrio Postural/fisiologíaRESUMEN
Growth deficiency is a characteristic feature of both Kabuki syndrome 1 (KS1) and Kabuki syndrome 2 (KS2), Mendelian disorders of the epigenetic machinery with similar phenotypes but distinct genetic etiologies. We previously described skeletal growth deficiency in a mouse model of KS1 and further established that a Kmt2d-/- chondrocyte model of KS1 exhibits precocious differentiation. Here we characterized growth deficiency in a mouse model of KS2, Kdm6atm1d/+. We show that Kdm6atm1d/+ mice have decreased femur and tibia length compared to controls and exhibit abnormalities in cortical and trabecular bone structure. Kdm6atm1d/+ growth plates are also shorter, due to decreases in hypertrophic chondrocyte size and hypertrophic zone height. Given these disturbances in the growth plate, we generated Kdm6a-/- chondrogenic cell lines. Similar to our prior in vitro model of KS1, we found that Kdm6a-/- cells undergo premature, enhanced differentiation towards chondrocytes compared to Kdm6a+/+ controls. RNA-seq showed that Kdm6a-/- cells have a distinct transcriptomic profile that indicates dysregulation of cartilage development. Finally, we performed RNA-seq simultaneously on Kmt2d-/-, Kdm6a-/-, and control lines at Days 7 and 14 of differentiation. This revealed surprising resemblance in gene expression between Kmt2d-/- and Kdm6a-/- at both time points and indicates that the similarity in phenotype between KS1 and KS2 also exists at the transcriptional level.
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Anomalías Múltiples , Condrocitos , Modelos Animales de Enfermedad , Cara , Enfermedades Hematológicas , Histona Demetilasas , Enfermedades Vestibulares , Animales , Enfermedades Vestibulares/genética , Enfermedades Vestibulares/patología , Ratones , Cara/anomalías , Histona Demetilasas/genética , Histona Demetilasas/metabolismo , Enfermedades Hematológicas/genética , Enfermedades Hematológicas/patología , Condrocitos/metabolismo , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Diferenciación Celular/genética , Condrogénesis/genética , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/deficiencia , Humanos , Ratones Noqueados , Fenotipo , N-Metiltransferasa de Histona-Lisina , Proteína de la Leucemia Mieloide-LinfoideRESUMEN
AIM: To characterize vestibular recovery in a mouse model of unilateral labyrinthotomy under local AAT and dexamethasone treatment. BACKGROUND: Alpha1-antitrypsin (AAT) is a circulating tissue-protective molecule that rises during inflammatory conditions and promotes inflammatory resolution. Its local concentration in human perilymph inversely correlates with the severity of inner ear dysfunction; concomitantly, mice that overexpress AAT and undergo inner ear trauma rapidly restore vestibular function. Locally applied AAT has yet to be examined in this context, nor has it been directly compared with anti-inflammatory corticosteroid treatment. METHODS: Wild-type mice C57BL/6 underwent a unilateral inner ear injury. Nine microliters of saline, clinical-grade AAT (180 µg/site), dexamethasone (4 mg/site), or both were applied locally on Days 0, 1, and 2 (n = 5/group). Vestibular function was assessed for 7 days. An in vitro human epithelial gap closure assay was performed using A549 cells in the presence of AAT and/or dexamethasone. RESULTS: Upon labyrinthotomy, all groups displayed severe vestibular dysfunction. Saline-treated mice showed the longest impairment. That group and the dexamethasone group displayed partial to no recovery, while AAT-treated mice exhibited complete recovery within 7 days; at this time point, dexamethasone-treated mice exhibited 50% recovery. Objective vestibular testing showed similar outcomes. In vitro, cotreatment with AAT and dexamethasone resulted in a gap closure dynamic that was superior to AAT alone at 6 h and superior to DEX alone at 48 h. CONCLUSION: Locally applied AAT treatment is superior to locally applied dexamethasone in promoting vestibular recovery in vivo. Ongoing studies are exploring the potential advantages of AAT combined with early low-dose dexamethasone therapy.
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Dexametasona , Ratones Endogámicos C57BL , alfa 1-Antitripsina , Animales , Ratones , Dexametasona/administración & dosificación , Dexametasona/uso terapéutico , alfa 1-Antitripsina/administración & dosificación , Enfermedades Vestibulares/tratamiento farmacológico , Enfermedades Vestibulares/etiología , Antiinflamatorios/administración & dosificación , Antiinflamatorios/farmacología , Oído Interno/efectos de los fármacos , Modelos Animales de Enfermedad , Recuperación de la Función/efectos de los fármacos , Vestíbulo del Laberinto/efectos de los fármacos , Vestíbulo del Laberinto/lesiones , Humanos , MasculinoRESUMEN
BACKGROUND: People with vestibular dysfunction encounter many obstacles when seeking vestibular rehabilitation treatment. Remote delivery of vestibular rehabilitation may offer a promising avenue for overcoming these barriers, ensuring uninterrupted and cost-effective care. OBJECTIVE: To evaluate clinical trials studying telerehabilitation and virtual reality devices as therapeutic interventions for individuals with vestibular dysfunction. METHODS: A PRISMA systematic review of PubMed, EMBASE, Cochrane, Web of Science, and SCOPUS was conducted for randomized controlled trials describing the use of remote care delivery for vestibular rehabilitation. Bias of studies was assessed with the revised Cochrane risk-of-bias tool (RoB2). RESULTS: The search identified 1,358 unique articles and 14 articles matched the search criteria. Study samples size ranged from 20 to 337, with mean ages ranging from 29.3 to 77.7 years. Interventions included telephone and online communication, exergaming devices, web-based applications, and head-mounted devices to deliver vestibular rehabilitation. Outcomes included validated questionnaires, objective clinical tests, and physical examinations. CONCLUSIONS: The studies reviewed in this article reported greater or equivalent outcomes when incorporating remote care options as supplements or alternatives to standard care for patients with vestibular dysfunction. Further research is required to address limitations in these studies such as heterogeneity of control groups and cost-effectiveness of these interventions.
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Telerrehabilitación , Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/rehabilitación , Realidad VirtualRESUMEN
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt-Oram syndrome.