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1.
Artículo en Chino | MEDLINE | ID: mdl-38973049

RESUMEN

Large vestibular aqueduct syndrome(LVAS) is a common recessive hereditary hearing loss disease, and some patients may also experience vestibular dysfunction. With the wide application of cochlear implant(CI) 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.


Asunto(s)
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/fisiopatología
2.
NeuroRehabilitation ; 54(4): 691-698, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38875051

RESUMEN

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.


Asunto(s)
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/terapia
3.
Brain Behav ; 14(6): e3591, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38849984

RESUMEN

PURPOSE: Vestibular migraine (VM) is a disorder with prominent vestibular symptoms that are causally correlated with migraine and is the most prevalent neurological cause of episodic vertigo. Nevertheless, the functional underpinnings of VM remain largely unclear. This study aimed to reveal concordant alteration patterns of functional connectivity (FC) in VM patients. METHODS: We searched literature measuring resting-state FC abnormalities of VM patients in PubMed, Embase, Cochrane, and Scopus databases before May 2023. Furthermore, we applied the anisotropic effect size-signed differential mapping (AES-SDM) to conduct a whole-brain voxel-wise meta-analysis to identify the convergence of FC alterations in VM patients. RESULTS: Nine studies containing 251 VM patients and 257 healthy controls (HCs) were included. Relative to HCs, VM patients showed reduced activity in the left superior temporal gyrus and left midcingulate/paracingulate gyri, and increased activity in the precuneus, right superior parietal gyrus, and right middle frontal gyrus. Jackknife's analysis and subgroup analysis further supported the generalization and robustness of the main results. Furthermore, meta-regression analyses indicated that the Dizziness Handicap Inventory (DHI) ratings were positively correlated with the activity in the precuneus, while higher Headache Impact Test-6 and DHI scores were associated with lower activity within the left midcingulate/paracingulate gyri. CONCLUSIONS: The study indicates that VM is associated with specific functional deficits of VM patients in crucial regions involved in the vestibular and pain networks and provides further information on the pathophysiological mechanisms of VM.


Asunto(s)
Trastornos Migrañosos , Humanos , Trastornos Migrañosos/fisiopatología , Trastornos Migrañosos/diagnóstico por imagen , Imagen por Resonancia Magnética , Enfermedades Vestibulares/fisiopatología , Estado Funcional , Conectoma/métodos , Vértigo/fisiopatología , Encéfalo/fisiopatología , Encéfalo/diagnóstico por imagen
4.
Adv Exp Med Biol ; 1441: 761-775, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38884747

RESUMEN

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.


Asunto(s)
Aorta Torácica , Válvula Aórtica , Humanos , Aorta Torácica/anomalías , Aorta Torácica/patología , Válvula Aórtica/anomalías , Válvula Aórtica/patología , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/patología , Enfermedad de la Válvula Aórtica Bicúspide/genética , Estenosis de la Válvula Pulmonar/genética , Mutación , Receptor Notch1/genética , Enfermedad de la Válvula Aórtica/genética , Enfermedades de las Válvulas Cardíacas/genética , Enfermedades de las Válvulas Cardíacas/patología , Calcinosis/genética , Calcinosis/patología , Enfermedades Hematológicas/genética , Enfermedades Hematológicas/patología , Enfermedades Vestibulares/genética , Enfermedades Vestibulares/patología
5.
Cephalalgia ; 44(6): 3331024241262488, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38887813

RESUMEN

OBJECTIVE: This study aimed to identify the potential subgroups of migraines based on the patterns of migraine associated symptoms, vestibular and auditory symptoms using latent class analysis and to explore their characteristics. METHOD: A total of 555 patients with migraine participated in the study. Symptoms such as nausea, vomiting, photophobia, phonophobia, osmophobia, visual symptoms, vestibular symptoms (dizziness, vertigo), and auditory symptoms (tinnitus, hearing loss, aural fullness) were assessed. Latent class analysis was performed to identify subgroups of migraines. Covariates such as gender, age of migraine onset, frequency of migraine attacks per month, and family history were also considered. RESULTS: The analysis revealed four latent classes: the Prominent Vestibular; Prominent Nausea; Presenting Symptoms but not prominent or dominant; and Sensory Hypersensitivity groups. Various covariates, such as gender, age of migraine onset, and frequency of migraine attacks, demonstrated significant differences among the four groups. The Sensory Hypersensitivity group showed the presence of multiple sensory symptoms, earlier age of migraine onset, and higher proportion of females. The Prominent Vestibular group had the highest probability of dizziness or vertigo but lacked the presence of auditory symptoms. The Prominent Nausea group exhibited prominent nausea. The Presenting Symptoms but not prominent or dominant group comprised individuals with the highest migraine attacks per month and proportion of chronic migraine. CONCLUSION: This study identifies four subgroups of migraines based on the patterns of symptoms. The findings suggest potential different but overlapped mechanisms behind the vestibular and auditory symptoms of migraine. Considering the different patterns of migraine-related symptoms may provide deeper insights for patients' prognosis and clinical decision-making.


Asunto(s)
Análisis de Clases Latentes , Trastornos Migrañosos , Humanos , Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/epidemiología , Femenino , Masculino , Adulto , Persona de Mediana Edad , Vértigo/diagnóstico , Vértigo/epidemiología , Adulto Joven , Náusea/epidemiología , Náusea/etiología , Náusea/diagnóstico , Mareo/epidemiología , Mareo/diagnóstico , Anciano , Adolescente , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/epidemiología , Enfermedades Vestibulares/complicaciones
6.
J Otolaryngol Head Neck Surg ; 53: 19160216241250354, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38888938

RESUMEN

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.


Asunto(s)
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 X
7.
J Bodyw Mov Ther ; 39: 132-141, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38876618

RESUMEN

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.


Asunto(s)
Terapia por Ejercicio , Ensayos Clínicos Controlados Aleatorios como Asunto , Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/rehabilitación , Terapia por Ejercicio/métodos , Equilibrio Postural/fisiología
8.
Otol Neurotol ; 45(6): 608-618, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38865717

RESUMEN

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.


Asunto(s)
Telerrehabilitación , Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/rehabilitación , Realidad Virtual
9.
PLoS Genet ; 20(6): e1011310, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38857303

RESUMEN

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.


Asunto(s)
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-Linfoide
10.
Sensors (Basel) ; 24(12)2024 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-38931672

RESUMEN

BACKGROUND: Sensory information obtained from the visual, somatosensory, and vestibular systems is responsible for regulating postural control, and if damage occurs in one or more of these sensory systems, postural control may be altered. OBJECTIVE: To evaluate and compare the postural sway velocity between children with normal hearing and with sensorineural hearing loss (SNHL), matched by sex and age group, and to compare the postural sway velocity between children with normal hearing and with SNHL, with and without vestibular dysfunction. METHODS: Cross-sectional study that evaluated 130 children (65 with normal hearing and 65 with SNHL), of both sexes and aged between 7 and 11 years, from public schools of the city of Caruaru, Pernambuco state, Brazil. The postural sway velocity of the center of pressure (COP) was assessed by a force platform, in two directions, anteroposterior (AP) and mediolateral (ML)), in three positions, namely bipedal support with feet together and parallel (parallel feet (PF)), bipedal support with one foot in front of the other (tandem foot (TF)), and single-leg support (one foot (OF)), evaluated with the eyes open and closed. RESULTS: Children with SNHL demonstrated greater postural sway velocity compared to children with normal hearing in all the positions evaluated, with significant differences in the AP direction, with the eyes open (PF: p = 0.001; TF: p = 0.000; OF: p = 0.003) and closed (PF: p = 0.050; TF: p = 0.005). The same occurred in the ML direction, with the eyes open (PF: p = 0.001; TF: p = 0.000; OF: p = 0.001) and closed (PF: p = 0.002; TF: p = 0.000). The same occurred in relation to vestibular function, where the children with SNHL with an associated vestibular dysfunction demonstrated greater postural sway velocity compared to children with normal hearing in all the positions evaluated, demonstrating significant differences in the AP direction, with the eyes open (TF: p = 0.001; OF: p = 0.029) and eyes closed (PF: p = 0.036; TF: p = 0.033). The same occurred in the ML direction, with the eyes open (TF: p = 0.000) and with the eyes closed (PF: p = 0.008; TF: p = 0.009). CONCLUSIONS: Children with SNHL demonstrated greater instability of postural control than children with normal hearing in all the directions assessed. Children with SNHL and an associated vestibular dysfunction demonstrated the greatest instability of postural control in this study.


Asunto(s)
Equilibrio Postural , Enfermedades Vestibulares , Humanos , Niño , Equilibrio Postural/fisiología , Masculino , Femenino , Estudios Transversales , Enfermedades Vestibulares/fisiopatología , Pérdida Auditiva Sensorineural/fisiopatología , Sordera/fisiopatología
11.
Genome Res ; 34(5): 696-710, 2024 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-38702196

RESUMEN

Many Mendelian developmental disorders caused by coding variants in epigenetic regulators have now been discovered. Epigenetic regulators are broadly expressed, and each of these disorders typically shows phenotypic manifestations from many different organ systems. An open question is whether the chromatin disruption-the root of the pathogenesis-is similar in the different disease-relevant cell types. This is possible in principle, because all these cell types are subject to effects from the same causative gene, which has the same kind of function (e.g., methylates histones) and is disrupted by the same germline variant. We focus on mouse models for Kabuki syndrome types 1 and 2 and find that the chromatin accessibility changes in neurons are mostly distinct from changes in B or T cells. This is not because the neuronal accessibility changes occur at regulatory elements that are only active in neurons. Neurons, but not B or T cells, show preferential chromatin disruption at CpG islands and at regulatory elements linked to aging. A sensitive analysis reveals that regulatory elements disrupted in B/T cells do show chromatin accessibility changes in neurons, but these are very subtle and of uncertain functional significance. Finally, we are able to identify a small set of regulatory elements disrupted in all three cell types. Our findings reveal the cellular-context-specific effect of variants in epigenetic regulators and suggest that blood-derived episignatures, although useful diagnostically, may not be well suited for understanding the mechanistic basis of neurodevelopment in Mendelian disorders of the epigenetic machinery.


Asunto(s)
Anomalías Múltiples , Envejecimiento , Cromatina , Islas de CpG , Cara , Enfermedades Hematológicas , Neuronas , Enfermedades Vestibulares , Animales , Enfermedades Hematológicas/genética , Enfermedades Hematológicas/metabolismo , Ratones , Cara/anomalías , Cromatina/metabolismo , Cromatina/genética , Enfermedades Vestibulares/genética , Neuronas/metabolismo , Envejecimiento/genética , Anomalías Múltiples/genética , Modelos Animales de Enfermedad , Epigénesis Genética , Linfocitos T/metabolismo , Linfocitos B/metabolismo
13.
Prim Care ; 51(2): 195-209, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38692770

RESUMEN

Dizziness is a prevalent symptom in the general population and is among the most common reasons patients present for medical evaluations. This article focuses on high yield information to support primary clinicians in the efficient and effective evaluation and management of dizziness. Key points are as follows: do not anchor on the type of dizziness symptom, do use symptom timing and prior medical history to inform diagnostics probabilities, do evaluate for hallmark examination findings of vestibular disorders, and seek out opportunities to deliver evidence-based interventions particularly the canalith repositioning maneuver and gaze stabilization exercises.


Asunto(s)
Mareo , Atención Primaria de Salud , Humanos , Mareo/diagnóstico , Mareo/terapia , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/terapia
14.
EBioMedicine ; 104: 105156, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38768529

RESUMEN

BACKGROUND: Kabuki syndrome (KS) is a genetic disorder caused by DNA mutations in KMT2D, a lysine methyltransferase that methylates histones and other proteins, and therefore modifies chromatin structure and subsequent gene expression. Ketones, derived from the ketogenic diet, are histone deacetylase inhibitors that can 'open' chromatin and encourage gene expression. Preclinical studies have shown that the ketogenic diet rescues hippocampal memory neurogenesis in mice with KS via the epigenetic effects of ketones. METHODS: Single-cell RNA sequencing and mass spectrometry-based proteomics were used to explore molecular mechanisms of disease in individuals with KS (n = 4) versus controls (n = 4). FINDINGS: Pathway enrichment analysis indicated that loss of function mutations in KMT2D are associated with ribosomal protein dysregulation at an RNA and protein level in individuals with KS (FDR <0.05). Cellular proteomics also identified immune dysregulation and increased abundance of other lysine modification and histone binding proteins, representing a potential compensatory mechanism. A 12-year-old boy with KS, suffering from recurrent episodes of cognitive decline, exhibited improved cognitive function and neuropsychological assessment performance after 12 months on the ketogenic diet, with concomitant improvement in transcriptomic ribosomal protein dysregulation. INTERPRETATION: Our data reveals that lysine methyltransferase deficiency is associated with ribosomal protein dysfunction, with secondary immune dysregulation. Diet and the production of bioactive molecules such as ketone bodies serve as a significant environmental factor that can induce epigenetic changes and improve clinical outcomes. Integrating transcriptomic, proteomic, and clinical data can define mechanisms of disease and treatment effects in individuals with neurodevelopmental disorders. FUNDING: This study was supported by the Dale NHMRC Investigator Grant (APP1193648) (R.D), Petre Foundation (R.D), and The Sydney Children's Hospital Foundation/Kids Research Early and Mid-Career Researcher Grant (E.T).


Asunto(s)
Proteínas de Unión al ADN , Dieta Cetogénica , Cara , Enfermedades Hematológicas , Proteómica , Proteínas Ribosómicas , Enfermedades Vestibulares , Enfermedades Vestibulares/genética , Enfermedades Vestibulares/metabolismo , Enfermedades Vestibulares/dietoterapia , Humanos , Cara/anomalías , Masculino , Enfermedades Hematológicas/metabolismo , Enfermedades Hematológicas/genética , Enfermedades Hematológicas/etiología , Enfermedades Hematológicas/dietoterapia , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Proteínas Ribosómicas/genética , Proteínas Ribosómicas/metabolismo , Niño , Proteómica/métodos , Femenino , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Regulación de la Expresión Génica , Mutación , Transcriptoma , Anomalías Múltiples
15.
Arch Pediatr ; 31(4): 217-223, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38697883

RESUMEN

INTRODUCTION: The consequence of complete or partial uncompensated vestibular dysfunction in children is usually balance disorders, with the risk of falls and increased fatigue, particularly during tasks requiring postural control. The aim of these recommendations is to establish guidelines for vestibular rehabilitation (VR) in children with vestibular impairment. MATERIAL AND METHODS: The guidelines were developed based on a systematic review of the international literature, validated by a multidisciplinary group of French-speaking otorhinolaryngologists, scientists, and physiotherapists. They are classified as grade A, B, C, or expert opinion according to a decreasing level of scientific evidence. RESULTS: A PubMed search of studies published between January 1990 and December 2021 was carried out using the keywords "vestibular," "rehabilitation," and "children". After filtering and reviewing the articles, a total of 10 publications were included to establish the recommendations. CONCLUSION: It is recommended that a vestibular assessment be carried out before VR, including a study of vestibulo-ocular reflex, otolithic function, and postural control. In cases of vestibular dysfunction, physiotherapy treatment is recommended from an early age to train different aspects of postural control, including anticipatory and reactive postural adjustments. VR adapted to the pediatric population is recommended for children whose vestibular dysfunction leads to functional disorders or symptoms of vertigo for those who have suffered head trauma. It is recommended that children with bilateral vestibular impairment be treated using gaze stabilization exercises for adaptation and substitution. Optokinetic stimulation and virtual reality are not recommended for children and young adolescents.


Asunto(s)
Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/rehabilitación , Niño , Sociedades Médicas , Francia
16.
Otol Neurotol ; 45(5): 572-579, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38728561

RESUMEN

INTRODUCTION: Studies on incidence and prevalence of vestibular disorders tend to focus on small pockets of patients recruited from specialized clinics and often exclude measures of vestibular function. The objectives of the study were to characterize patients with common vestibular disorders, estimate the prevalence of common vestibular disorders, and ascertain whether patients with vestibular disorders experience increased risks of falls and morbidity. MATERIALS AND METHODS: This retrospective cohort study includes both inpatient and outpatient routine clinical care data culled from a nationally representative, population-based sample. Patients were included if their record in the TriNetX Diamond Cohort comprised at least one vestibular function test or vestibular diagnosis. The main outcome measures were diagnosis with a vestibular disorder, a fall, or a common medical comorbidity (e.g., diabetes, cerebrovascular disease). RESULTS: The cohort includes n = 4,575,724 patients, of which 55% (n = 2,497,136) had a minimum of one vestibular diagnosis. Patients with vestibular diagnoses were 61.3 ± 16.6 years old (mean ± standard deviation), 67% women, 28% White race (69% unknown race), and 30% of non-Hispanic or Latino ethnicity (66% unknown ethnicity). The prevalence of vestibular disorders was estimated at 2.98% (95% confidence interval [CI]: 2.98-2.98%). Patients with vestibular diagnoses experienced a significantly greater odds of falls (odds ratio [OR] = 1.04; 95% CI: 1.02-1.05), cerebrovascular disease (OR = 1.42; 95% CI: 1.40-1.43), ischemic heart disease (OR = 1.17; 95% CI: 1.16-1.19), and diabetes (OR = 1.14; 95% CI: 1.13-1.15), among others. DISCUSSION: Vestibular disorders affect an estimated 3% of the U.S. population, after weighting. Patients with these disorders are at greater risk for many common, consequential medical conditions.


Asunto(s)
Accidentes por Caídas , Comorbilidad , Enfermedades Vestibulares , Humanos , Enfermedades Vestibulares/epidemiología , Femenino , Persona de Mediana Edad , Masculino , Anciano , Estudios Retrospectivos , Prevalencia , Adulto , Accidentes por Caídas/estadística & datos numéricos , Trastornos Cerebrovasculares/epidemiología , Trastornos Cerebrovasculares/complicaciones , Estudios de Cohortes , Diabetes Mellitus/epidemiología , Anciano de 80 o más Años
17.
Otol Neurotol ; 45(5): e443-e449, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38728562

RESUMEN

OBJECTIVE: To investigate the clinical manifestations and complete auditory function in primary tinnitus patients with and without migraine or vestibular migraine. DESIGN: Retrospective case-control study. SETTING: A tertiary referral center. PARTICIPANTS: This study enrolled 298 patients from the Kaohsiung Veterans General Hospital. All patients were diagnosed with primary tinnitus by a neurotologist between April 2020 and August 2021. Patients were excluded if they had histories of chronic otitis media, idiopathic sudden sensorineural hearing loss, Ménière's disease, skull base neoplasm, or temporal bone trauma. INTERVENTIONS: Twenty-five-item Tinnitus Handicap Inventory (THI), speech audiometry including speech recognition threshold, most comfortable level, uncomfortable loudness levels, dynamic range, and pure-tone audiometry. MAIN OUTCOMES MEASURES: Objective hearing loss is defined as a mean threshold greater than 25 dB. Extremely elevated THI is defined as a score greater than 1 standard deviation above the mean THI. RESULTS: Among the 298 patients with tinnitus, 149 were women and 149 were men, with a mean age of 57.06 (range, 19.22-94.58) years.A total of 125 patients completed the THI questionnaire during their initial visit. The median THI score was 32 (95% confidence interval: 13.98-56.00), and the mean score was 34.99 with a standard deviation of 21.01. The sole contributing factor significantly associated with higher total THI score was the diagnosis of migraine or vestibular migraine (p < 0.001, odds ratio = 19.41).Tinnitus patients with migraine or vestibular migraine exhibited significantly lower mean pure-tone auditory thresholds (right 22.2 versus 29.5, p = 0.002; left 22.5 versus 30.4, p < 0.001), speech recognition threshold (right 20.0 versus 25.2, p = 0.016; left 20.2 versus 25.5, p = 0.019), and most comfortable levels values (right 46.1 versus 51.4, p = 0.007; left 46.9 versus 51.4, p = 0.021) compared with the tinnitus patients without migraine. CONCLUSIONS: In this population-based study, patients with primary tinnitus experienced significantly higher THI scores and exhibited concurrent symptoms, including dizziness/vertigo, cervicalgia, and migraine or vestibular migraine. Among these parameters, the diagnosis of migraine or vestibular migraine was the sole contributor to significant higher THI score.


Asunto(s)
Audiometría de Tonos Puros , Trastornos Migrañosos , Calidad de Vida , Acúfeno , Humanos , Acúfeno/complicaciones , Acúfeno/diagnóstico , Acúfeno/fisiopatología , Femenino , Masculino , Trastornos Migrañosos/complicaciones , Persona de Mediana Edad , Estudios Retrospectivos , Estudios de Casos y Controles , Anciano , Adulto , Enfermedades Vestibulares/complicaciones , Enfermedades Vestibulares/diagnóstico
18.
PeerJ ; 12: e17287, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38766481

RESUMEN

Background: The performance of balance is an important factor to perform activities. The complications of type 2 diabetes mellitus (T2DM), especially vestibular dysfunction (VD), could decrease balance performance and falls-efficacy (FE) which consequently impacts social participation and quality of life (QoL). Purpose: This study aimed to compare balance performance, FE, social participation and QoL between individuals with T2DM with and without VD. Methods: The participants comprised 161 T2DM with VD and 161 without VD. Three clinical tests used for confirming VD included the Head Impulse Test (HIT), the Dix Hallpike Test (DHT) and the Supine Roll Test (SRT). The scores of static and dynamic balances, FE, social participation and QoL were compared between groups. Results: The balance performance, FE, social participation and QoL were lower in the group with VD. The number of patients who had severe social restriction was higher in T2DM with VD than without VD (58.4% vs 48.4%). Moreover, all domains of QoL (physical, psychological, social relationships and environmental) were lower in T2DM with VD than without VD. Conclusion: The presence of VD in T2DM patients was associated with decreased physical balance performances and increased social and QoL disengagement. Comprehensive management related to balance and FE, as well as the monitoring to support social participation and QoL, should be emphasized in patients with T2DM with VD.


Asunto(s)
Accidentes por Caídas , Diabetes Mellitus Tipo 2 , Equilibrio Postural , Calidad de Vida , Participación Social , Enfermedades Vestibulares , Humanos , Diabetes Mellitus Tipo 2/psicología , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/fisiopatología , Equilibrio Postural/fisiología , Masculino , Femenino , Calidad de Vida/psicología , Accidentes por Caídas/prevención & control , Persona de Mediana Edad , Enfermedades Vestibulares/fisiopatología , Enfermedades Vestibulares/psicología , Anciano
20.
J Laryngol Otol ; 138(S2): S42-S46, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38779895

RESUMEN

OBJECTIVE: To examine the newly established role of a primary contact physiotherapist in an ENT clinic, in an Australian cohort and context, over two phases of development. METHODS: A retrospective cohort study was conducted with data collected from a medical record audit. Over the study duration, the primary contact physiotherapist completed initial appointments with patients; follow-up appointments were subsequently conducted by medical staff. RESULTS: There was a 46 per cent reduction in patients with suggested vestibulopathy requiring an ENT medical review. This reduction could hypothetically increase to 71 per cent with follow-up primary contact physiotherapist appointments. Improvements in the service delivery model and a primary contact physiotherapist arranging diagnostic assessments could improve waitlist times and facilitate better utilisation of medical staff time. CONCLUSION: The primary contact physiotherapist can help in the management of patients with suspected vestibulopathy on an ENT waitlist. This is achieved through: a reduction of patients requiring ENT review, improvements to waitlist time and improved utilisation of medical specialists' time.


Asunto(s)
Modalidades de Fisioterapia , Humanos , Estudios Retrospectivos , Modalidades de Fisioterapia/estadística & datos numéricos , Australia , Femenino , Masculino , Persona de Mediana Edad , Enfermedades Vestibulares/terapia , Enfermedades Vestibulares/diagnóstico , Adulto , Listas de Espera , Estudios de Cohortes , Anciano , Fisioterapeutas , Otolaringología
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