Aberrant cerebral blood flow and functional connectivity in patients with vestibular migraine: a resting-state ASL and fMRI study.

BACKGROUND: Prior neuroimaging studies on vestibular migraine (VM) have extensively certified the functional and structural alterations in multiple brain regions and networks. However, few studies have assessed the cerebral blood flow (CBF) in VM patients using arterial spin labeling (ASL). The present study aimed to investigate CBF and functional connectivity (FC) alterations in VM patients during interictal periods. METHODS: We evaluated 52 VM patients and 46 healthy controls (HC) who received resting-state pseudo-continuous ASL and functional magnetic resonance imaging (fMRI) scanning. Comparisons of voxel-based CBF and seed-based FC were performed between the two groups. Brain regions showed significant group differences in CBF analyses were chosen as seeds in FC analyses. Additionally, the associations between abnormal imaging results and clinical features were explored. RESULTS: Compared with HC, VM patients showed higher normalized CBF in the right precentral gyrus (PreCG), left postcentral gyrus (PostCG), left superior frontal gyrus and bilateral insular (p < 0.05, FDR corrected). Furthermore, VM patients exhibited increased FC between the right PreCG and areas of the left PostCG, left cuneus and right lingual gyrus (p < 0.05, FDR corrected). In addition, we observed decreased FC between the left insular and regions of the left thalamus and right anterior cingulate cortex, as well as increased FC between the left insular and right fusiform gyrus in VM patients (p < 0.05, FDR corrected). Moreover, these variations in brain perfusion and FC were significantly correlated with multiple clinical features including frequency of migraine symptoms, frequency of vestibular symptoms and disease duration of VM (all p < 0.05). CONCLUSIONS: Patients with VM during interictal period showed hyperperfusion and abnormal resting-state FC in brain regions potentially contributed to disrupted multi-sensory and autonomic processing, as well as impaired ocular motor control, pain modulation and emotional regulation. Our study provided novel insights into the complex neuropathology of VM from a CBF perspective.

Vestibular Rehabilitation: Intelligent or Traditional?

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Epidemiology and Comorbidities of Vestibular Disorders: Preliminary Findings of the AVOCADO Study.

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.

Impact of Migraine and Vestibular Migraine on Audiometric Profiles and Quality of Life in Patients With Tinnitus.

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.

Dizziness in Primary Care.

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.

KMT2D regulates activation, localization, and integrin expression by T-cells.

Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up on our prior report of KMT2D-altered integrin expression in B-cells, we performed targeted analyses of KMT2D's influence on integrin expression in T-cells throughout development (thymocytes through peripheral T-cells) in murine cells with constitutive- and conditional-targeted Kmt2d deletion. Using high-throughput RNA-sequencing and flow cytometry, we reveal decreased expression (both at the transcriptional and translational levels) of a cluster of leukocyte-specific integrins, which perturb aspects of T-cell activation, maturation, adhesion/localization, and effector function. H3K4me3 ChIP-PCR suggests that these evolutionary similar integrins are under direct control of KMT2D. KMT2D loss also alters multiple downstream programming/signaling pathways, including integrin-based localization, which can influence T-cell populations. We further demonstrated that KMT2D deficiency is associated with the accumulation of murine CD8+ single-positive (SP) thymocytes and shifts in both human and murine peripheral T-cell populations, including the reduction of the CD4+ recent thymic emigrant (RTE) population. Together, these data show that the targeted loss of Kmt2d in the T-cell lineage recapitulates several distinct features of Kabuki syndrome-associated immune deficiency and implicates epigenetic mechanisms in the regulation of integrin signaling.

Balance performance, falls-efficacy and social participation in patients with type 2 diabetes mellitus with and without vestibular dysfunction.

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.

Guidelines of the French Society of Otorhinolaryngology and Head and Neck Surgery (SFORL) for vestibular rehabilitation in children with vestibular dysfunction. A systematic review.

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.

Effectiveness of vestibular rehabilitation on postural balance in Parkinson's disease: a systematic review and meta-analysis of randomized controlled trials.

INTRODUCTION: Postural balance impairment can affect the quality of life of patients with Parkinson's disease. Previous studies have described connections of the vestibular system with postural functions, suggesting a potential participation of the basal ganglia in receiving vestibular stimuli. This systematic review aims to summarize the evidence on the effectiveness of vestibular rehabilitation on postural balance in patients with Parkinson's disease. METHODS: A systematic review was conducted using the electronic databases: PubMed, Embase, Scopus and PEDro. The study selection was independently conducted by two reviewers, and disagreements were evaluated by a third reviewer. The included studies had no restrictions on publication dates or languages and the last update occurred in July 2023. RESULTS: From the 485 studies found in the searches, only 3 studies were deemed eligible for the systematic review involving a total of 130 participants. The Berg Balance Scale was described as the tool for evaluation of postural balance in all studies. The meta-analysis showed statistically significant results in favor of vestibular rehabilitation (MD = 5.35; 95% CI = 2.39, 8.31; P < 0.001), regardless of the stage of Parkinson's disease. Although the effect size was suggested as a useful functional gain, the analysis was done with caution, as it only included 3 randomized controlled trials. The risk of bias using the RoB-2 was considered as being of "some concern" in all studies. Furthermore, the quality of the evidence based on the Grading of Recommendations Assessment Development and Evaluation system, produced by pooling the included studies was considered very low. CONCLUSION: Compared to other interventions, vestibular rehabilitation has potential to assist the postural balance of patients with Parkinson's disease. However, the very low quality of the evidence demonstrates uncertainty about the impact of this clinical practice. More robust studies are needed to confirm the benefits of this therapy in patients with Parkinson's disease. This study was prospectively registered in PROSPERO: CRD42020210185.

[Expert consensus on vestibular rehabilitation in vestibular disorders].

Vestibular rehabilitation therapy (VRT) is a highly effective treatment approach for addressing both peripheral and central vestibular disorders, offering the ability to significantly improve patients' coordination and control across the vestibular, visual, and proprioceptive systems, all of which are crucial factors in maintaining balance. By promoting vestibular compensation, VRT has been shown to mitigate or even eliminate symptoms of dizziness, vertigo, and instability. With the rapid development of vestibular research, VRT has evolved into a more individualized and precise treatment approach based on evidence-based medicine. Its clinical effectiveness has been increasingly validated in numerous studies. With the involvement of multidisciplinary experts, this article aims to reach a consensus on the pre-treatment evaluation, formulation/implementation of treatment plans, and evidence-based treatment recommendations for common vestibular disorders, focusing on the prospects of vestibular rehabilitation. The goal is to further standardize and update VRT protocols for different vestibular disorders, providing comprehensive and context-specific guidance primarily tailored to the Chinese healthcare landscape, with a notable emphasis on its clinical applicability. Concurrently, it aspires to present new insights and serve as a valuable reference point for forthcoming high-quality clinical research on vestibular rehabilitation in China.

Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).

Kabuki Syndrome (KS) is a multisystemic genetic disorder. A portion of patients has immunological manifestations characterized by increased susceptibility to infections and autoimmunity. Aiming to describe the clinical and laboratory immunological aspects of KS, we conducted a retrospective multicenter observational study on patients with KS treated in centers affiliated to the Italian Primary Immunodeficiency Network.Thirty-nine patients were enrolled, with a median age at evaluation of 10 years (range: 3 m-21y). All individuals had organ malformations of variable severity. Congenital heart defect (CHD) was present in 19/39 patients (49%) and required surgical correction in 9/39 (23%), with associated thymectomy in 7/39 (18%). Autoimmune cytopenia occurred in 6/39 patients (15%) and was significantly correlated with thymectomy (p < 0.002), but not CHD. Individuals with cytopenia treated with mycophenolate as long-term immunomodulatory treatment (n = 4) showed complete response. Increased susceptibility to infections was observed in 22/32 patients (69%). IgG, IgA, and IgM were low in 13/29 (45%), 13/30 (43%) and 4/29 (14%) patients, respectively. Immunoglobulin substitution was required in three patients. Lymphocyte subsets were normal in all patients except for reduced naïve T-cells in 3/15 patients (20%) and reduced memory switched B-cells in 3/17 patients (18%). Elevated CD3 + TCRαß + CD4-CD8-T-cells were present in 5/17 individuals (23%) and were correlated with hematological and overall autoimmunity (p < 0.05).In conclusion, immunological manifestations of KS in our cohort include susceptibility to infections, antibody deficiency, and autoimmunity. Autoimmune cytopenia is correlated with thymectomy and elevated CD3 + TCRαß + CD4-CD8-T-cells, and benefits from treatment with mycophenolate.

[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].

OBJECTIVE: To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. METHODS: Four children with KS diagnosed at the Children's Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified by Sanger sequencing and pathogenicity analysis. RESULTS: The KS phenotype scores for the four children were 7, 8, 6, and 6, respectively. Child 2 also presented with a rare solitary kidney malformation. Genetic testing revealed that all children had harbored novel de novo variants of the KMT2D gene, including c.16472_16473del, c.858dup, c.11899C>T, and c.12844C>T, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were classified as pathogenic. CONCLUSION: For children showing phenotypes such as distinctive facial features, intellectual disability, developmental delay, cardiac abnormalities, and urinary system anomalies, KS should be considered. Early diagnosis and intervention can be achieved through genetic testing, especially in the presence of KMT2D gene mutations.

Vestibular migraine: an update.

PURPOSE OF REVIEW: We performed a narrative review of the recent findings in epidemiology, clinical presentation, mechanisms and treatment of vestibular migraine. RECENT FINDINGS: Vestibular migraine is an underdiagnosed condition that has a high prevalence among general, headache and neuro-otology clinics. Vestibular migraine has a bimodal presentation probably associated with a hormonal component in women. These patients could have a complex clinical phenotype including concomitant autonomic, inflammatory or connective tissue conditions that have a higher prevalence of psychological symptoms, which may mistakenly lead to a diagnosis of a functional neurological disorder. A high proportion of patients with postural perceptual persistent dizziness have a migraine phenotype. Independently of the clinical presentation and past medical history, patients with the vestibular migraine phenotype can respond to regular migraine preventive treatments, including those targeting the calcitonin gene-related peptide pathways. SUMMARY: Vestibular migraine is an underdiagnosed migraine phenotype that shares the pathophysiological mechanisms of migraine, with growing interest in recent years. A thorough anamnesis is essential to increase sensitivity in patients with unknown cause of dizziness and migraine treatment should be considered (see supplemental video-abstract).

[Wideband acoustic immittance characteristics and machine learning-based diagnostic model for children with large vestibular aqueduct syndrome].

Objective:This study was to investigate the wideband acoustic immittance（WAI） characteristics of children with large vestibular aqueduct syndrome（LVAS） and to construct a diagnostic model for LVAS based on WAI and machine learning（ML） techniques. Methods:We performed a retrospective analysis of the data from 38 children（76 ears） with LVAS and 44 children（88 ears） with normal hearing. The data included conventional audiological examination, temporal bone CT scan and WAI test. We performed statistical analysis and developed multivariate diagnostic models based on different ML techniques. Results:The two groups were balanced in terms of ear, gender, and age（P>0.05）. The wideband absorbance（WBA） of the LVAS group was significantly lower than that of the control group at 1 000-2 519 Hz, while the WBA of the LVAS group was significantly higher than that of the control group at 4 000-6 349 Hz（P<0.05）. WBA at 5 039 Hz under ambient pressure had a certain diagnostic value（AUC=0.767）. The multivariate diagnostic model had a high diagnostic value（AUC>0.8）, among which the KNN model performed the best（AUC=0.961）. Conclusion:The WAI characteristics of children with LVAS are significantly different from those of normal children. The diagnostic model based on WAI and ML techniques has high accuracy and reliability, and provides new ideas and methods for intelligent diagnosis of LVAS.

Vértigo posicional paroxístico benigno primario y secundario a neuritis vestibular. Estudio de casos y controles / Primary and Secondary Benign Paroxysmal Positional Vertigo due to Peripheral Acute Vestibular Syndrome: A Case-Control Study

Introducción y objetivo: El objetivo de nuestro estudio fue demostrar las diferencias clínicas entre el vértigo posicional paroxístico benigno (VPPB) idiopático y secundario a síndrome vestibular agudo periférico (SVA). Método: Estudio de casos y controles, retrospectivo. La recolección de datos fue tomada de historias clínicas de nuestro hospital. Datos demográficos y clínicos de pacientes con diagnóstico de VPPB idiopático y secundario a SVA, fueron recogidos para el análisis. Además, en el grupo de los casos, se realizó una correlación entre el déficit vestibular periférico, medido a través del video head impulse test (vHIT), y el número de maniobras y tiempo hasta la resolución del VPPB. Resultados: Se incluyeron 72 pacientes, 64% mujeres. En el grupo control se incluyeron 50 pacientes con VPPB idiopático y 22 con VPPB secundario a SVA en el grupo de los casos. En el VPPB secundario, el canal semicircular posterior estuvo afectado en el 100% (OR: 1.2; IC 95% [1,088 - 1,436]). Ambos grupos mostraron una resolución del vértigo del 90% y 89%, respectivamente. El grupo de VPPB secundario tuvo 4 veces más riesgo de recurrencia (OR: 4.18; IC 95% [1.410 - 12.406]); necesitaron más maniobras (3.32 ± 2.2 vs. 1.7 ± 1.3, p = 0.004) y tiempo (61.9 días ± 73.1 vs. 12.9 días ± 9.6, p = 0.007) para la resolución del VPPB. Se encontraron correlaciones significativas entre la diferencia de ganancia media del reflejo vestíbulo-ocular (RVO) y el número de maniobras (r = 0.462, p = 0.030) y el tiempo hasta la resolución (r = 0.577, p = 0.008). Discusión: Existen diferencias clínicas entre el VPPB idiopático y secundario a SVA, principalmente en términos de canal semicircular afecto, mayor número de maniobras y tiempo en días hasta la resolución del VPPB. Además, de determinar que a mayor déficit vestibular en un paciente con VPPB secundario a SVA, necesitará un mayor número de maniobras y un tiempo prolongado hasta la resolución del VPPB. Conclusiones: ... (AU)

Introduction and Objective: The aim of our study was to demonstrate the clinical differences between idiopathic benign paroxysmal positional vertigo (BPPV) and BPPV secondary to acute peripheral vestibular syndrome (APVS). Method: Retrospective case-control study. Data collection was obtained from medical records at our hospital. Demographic and clinical data of patients diagnosed with idiopathic BPPV and BPPV secondary to APVS were collected for analysis. Additionally, in the case group, a correlation was performed between peripheral vestibular deficit, measured through the video head impulse test (vHIT), and the number of maneuvers and time until resolution of BPPV. Results: Seventy-two patients were included, with 64% being women. The control group included 50 patients with idiopathic BPPV and 22 with BPPV secondary to APVS in the case group. In secondary BPPV, the posterior semicircular canal was affected in 100% of cases (OR: 1.2; 95% CI [1.088 - 1.436]). Both groups showed a vertigo resolution rate of 90% and 89%, respectively. The secondary BPPV group had a 4-fold higher recurrence risk (OR: 4.18; 95% CI [1.410 - 12.406]); they required more maneuvers (3.32 ± 2.2 vs. 1.7 ± 1.3, p = 0.004) and more time (61.9 days ± 73.1 vs. 12.9 days ± 9.6, p = 0.007) for BPPV resolution. Significant correlations were found between the difference in mean gain of the vestibulo-ocular reflex (VOR) and the number of maneuvers (r = 0.462, p = 0.030) and the time until resolution (r = 0.577, p = 0.008). Discussion: Clinical differences exist between idiopathic BPPV and BPPV secondary to APVS, primarily in terms of the affected semicircular canal, a higher number of maneuvers, and a longer time in days until BPPV resolution. Furthermore, it was determined that a greater vestibular deficit in a patient with secondary BPPV to APVS requires a higher number of maneuvers and an extended time until BPPV resolution. Conclusions: ... (AU)

Increased prevalence of peripheral vestibular disorder among patients with Fabry disease.

BACKGROUND: Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series. To date, no studies have examined the relative risk of peripheral vestibular disorder in patients with Fabry disease compared to the general population without the condition. Due to the high prevalence of Fabry disease in East Asia and the potential shared pathogenic pathways between Fabry disease and vasculopathy, we conducted a study using a nationwide population-based dataset to compare the prevalence of peripheral vestibular disorder between patients with Fabry disease and matched comparison patients. METHODS: Data was sourced from Taiwan's Longitudinal Health Insurance Database 2010. this study consists of 11,668 sampled patients, 2917 study patients with Fabry disease and 8751 propensity-score-matching comparison patients. We conducted multiple logistic regression analysis to study the association between peripheral vestibular disorder and Fabry disease. RESULTS: The study identified notable differences in the prevalence of various vestibular disorders between the study and comparison groups. Specifically, there was a 7.2% increased prevalence of peripheral vestibular disorder in the study group (28.3%) compared to the comparison group (20.9%), Meniere's disease (5.4% vs. 3.7%), benign paroxysmal positional vertigo (5.1% vs. 3.3%), and other/ unspecified peripheral vestibular dizziness (15.6% vs. 11.8%) (all p < 0.001). The odds ratios for PVD, MD, BPPV, and other PVD were 1.44 (95% CI = 1.29-1.60), 1.50 (95% CI = 1.23-1.83), 1.59 (95% CI = 1.30-1.95), and 1.40 (95% CI = 1.24-1.58), respectively, among the Fabry disease group relative to the comparison group after adjusting for age, monthly income, geographic location, urbanization level, hyperlipidemia, diabetes, coronary heart disease, and hypertension. CONCLUSION: This study found that patients with Fabry disease had increased prevalence of peripheral vestibular disorder.

[Analysis of a case of Kabuki syndrome due to a novel variant of KMT2D gene].

OBJECTIVE: To report on a case of Kabuki syndrome (KS) due to a novel variant of KMT2D gene. METHODS: A child diagnosed with KS at the Fujian Children's Hospital on July 25, 2022 was selected as the study subject. Whole exome sequencing was carried out for the child and her parents. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 4-month-old female, had presented with distinctive facial features, growth retardation, cardiac malformations, horseshoe kidney, hypothyroidism, and recurrent aspiration pneumonia. Whole exome sequencing revealed that she has harbored a heterozygous c.6285dup (p.Lys2096Ter) variant of the KMT2D gene. Sanger sequencing confirmed that neither of her parents had carried the same variant. The variant was previously unreported and may result in a truncated protein and loss of an enzymatic activity region. The corresponding site of the variant is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION: The c.6285dup variant of the KMT2D gene probably underlay the KS in this child.

Audiological and Vestibular Measurements in Chronic Renal Failure Patients Receiving Hemodialysis Treatment.

BACKGROUND: The aim was to evaluate the changes in the audiovestibular system in adult patients with the diagnosis of chronic renal failure who were treated with hemodialysis. METHODS: Thirty-five patients diagnosed with chronic renal failure and receiving hemodialysis treatment 3 days a week and 35 healthy individuals were tested with pure tone audiometry, video head impulse test, and post-head shake nystagmus test. Dizziness Handicap Inventory was applied to all participants. RESULTS: The Dizziness Handicap Inventory scores of the patient groups are higher than the control groups (P=.001). In the video head impulse test, there is no statistically significant difference between the patient and control groups in terms of gain asymmetry. 17.1% of the patients had both left and right lateral saccades (P=.03). A statistically significant difference was also found after the post-head shake test (P=.025). In the patient group, an inverse relationship between the presence of left anterior right posterior saccades and blood urea nitrogen-creatinine ratio and a direct relationship between the presence of right anterior left posterior saccades and creatinine elevation were determined. The presence of saccades in the video head impulse test increased significantly as the disease duration of hemodialysis patients increased. CONCLUSION: It was determined that the overt and covert saccades in the video head impulse test increased significantly as the creatinine increased and the duration of the disease increased in the patients with chronic renal failure. The common clinical usage of video head impulse test in monitoring the vestibular side effects of creatinine elevation and disease duration in chronic renal failure patients may be possible with future studies.