Brazilian Journal of Otorhinolaryngology最新文献

Objective: Benign Paroxysmal Positional Vertigo (BPPV) is transient vertigo and paroxysmal nystagmus induced by changes in head position. This study was conducted to investigate the differential expression of serum proteins in patients with refractory BPPV and to screen for diagnostic biomarkers.

Methods: Serum samples were collected from patients with BPPV; tandem mass tag-based quantitative proteomics technology was used to detect and quantify the serum proteins of 30 individuals with refractory BPPV and 30 control volunteers. Bioinformatics analysis of differentially expressed proteins was performed using hierarchical clustering, gene ontology annotation, Kyoto Encyclopedia of Genes and Genomes analysis, and protein-protein interaction network analysis.

Results: A total of 769 proteins were identified, and 57 differentially expressed proteins were screened between the two groups; 15 proteins were upregulated, whereas 42 were downregulated. Five differentially expressed proteins were chosen for parallel reaction monitoring analysis to confirm the results. Apolipoprotein A-I, apolipoprotein A-II, apolipoprotein C-III, fibrinogen gamma chain, and fructose-bisphosphate aldolase B were the five potential candidate biomarker proteins.

Conclusions: This is the first quantitative proteomic study to reveal diagnostic biomarkers in patients with BPPV using tandem mass tag labeling technology. The identified differential proteins may improve the understanding of the pathogenesis and molecular mechanism of BPPV.

Level of evidence: Level 4.

Objectives: This review aims to study the impact of menopause transition on the vestibular system.

Methods: A broad systematic search of biomedical databases was performed. Papers investigating the effects of changes in female sex hormones on the vestibular physiology or the relationship between these changes in midlife women and vestibular manifestations were reviewed. Data from basic science, epidemiological studies and clinical investigations were organized and elaborated. The authors also addressed the gaps and limitations of current literature.

Results: Hormonal modifications during menopause transition seem to affect the vestibular system. Accordingly, epidemiological investigations describe a remarkable prevalence of vestibular disorders in climacteric women. However, clinical studies exploring this relationship are scarce, and little is known about the clinical and pathophysiological aspects of these diseases. The predisposition to vestibular disturbances during the menopause transition might be the result of an intricate combination of hormonal effects in the nervous system. These effects encompass changes in energy metabolism, immune and inflammatory regulation, modulation of several neurotransmitter systems, integrity of microcirculation and neuroprotection and neuroplasticity pathways. As a result, structural consequences within the inner ear, changes in the transduction and modulation of peripheral signals and dysregulation of central vestibular circuits may occur. Additionally, patients may present with signs of disturbances in sensory processing or difficulties in recovering from functional damages to the vestibular system. These events may contribute to the manifestation of individual vulnerabilities, causing sensory complaints, and the onset or worsening of vestibular problems. Preliminary data also corroborate the impact of menopause transition in specific vestibular diseases.

Conclusion: There is a theoretical basis for understanding the menopause transition as a facilitating condition for vestibular symptoms and diseases. However, clinical studies addressing these issues are scarce. Exploring them is a promising field of investigation that could lead to improvement in care for vestibular patients.

Objective: To evaluate the clinical efficacy of Chinese Herbal Medicine (CHM) in treating Allergic Rhinitis (AR) through meta-analysis.

Methods: A meta-analysis was conducted using a random effects model to explore the impact of CHM on response rates, nasal symptom scores, quality of life, blood Immunoglobulin E (IgE) levels, and adverse reactions.

Results: A total of 1,326 articles were retrieved, of which 12 studies were included. The meta-analysis showed that the response rate in the experimental group was higher than in the control group (p < 0.001). The adverse reaction rate was lower in the experimental group compared with the control group (p = 0.003). Subgroup analysis by publication year indicated that studies published in 2024 and 2023 showed lower nasal congestion scores in the experimental group compared with the control group (p < 0.0001); nasal itching scores were lower in the experimental group than in the control group (p < 0.0001). Subgroup analysis by age revealed that the 30+ and 40+ age groups had lower nasal itching scores, sneezing scores and rhinorrhea scores in the experimental group compared with the control group (p < 0.0001). Blood IgE levels were also lower in the experimental group compared with the control group (p = 0.002). Scores for the Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ) were lower in the experimental group (p < 0.0001).

Conclusion: The current evidence suggests that CHM can enhance the efficacy of AR treatment, improve patients' quality of life, and result in a lower rate of adverse reactions.

Level of evidence: I.

Objectives: PIK3CA-Related Overgrowth Spectrum (PROS) is a highly heterogeneous disease. Facial Infiltrating Lipomatosis (FIL) is a rare PROS subset, and its atypical phenotypes, such as macrotia, present diagnostic and therapeutic challenges due to limited data. This study aims to detail the diagnostic and long-term management procedures for an extremely rare case of Macrotia associated with PROS/FIL.

Methods: To confirm the underlying etiology, Whole Exome Sequencing (WES) was performed, complementing routine clinical and pathological examinations. Otoplasty was used as the intervention to reduce ear size. Long-term follow-up was conducted to monitor surgical outcome, stability, and potential recurrence.

Results: WES identified a PIK3CA pathogenic variant (p.H1047R). Combined with pathological findings, the patient was definitively diagnosed with PROS manifesting as the FIL phenotype. The reductive otoplasty surgery achieved significant improvement in the affected ear's morphology, reducing the deformity to a minimal, aesthetically pleasing level. Crucially, the 1-year follow-up showed remarkable stability in the near-normal ear contour, without any signs of recurrence or overgrowth. The successful aesthetic restoration significantly alleviated the patient's psychological distress.

Conclusions: This case demonstrates that WES is essential for accurate molecular diagnosis of PROS/FIL in patients presenting with atypical phenotypes like Macrotia. Furthermore, otoplasty is an effective and reliable reconstructive strategy for restoring ear aesthetics in these patients, providing excellent and stable long-term results and improving patient quality of life.

Level of evidence: Level 4.

Objective: Emerging evidence suggests inflammation contributes to Meniere's Disease (MD), a chronic vestibular disorder characterized by vertigo, hearing loss, and tinnitus. However, the causal role of Inflammatory Factors (IFs) and the mediating effects of Plasma Metabolites (PMs) in MD remain unclear. This study investigated bidirectional causality between IFs and MD and evaluated PMs as potential mediators.

Methods: Using Genome-Wide Association Study (GWAS) summary data, we performed bidirectional Mendelian Randomization (MR) analyses to assess causal links between 91 IFs, 1,400 PMs, and MD. Single Nucleotide Polymorphisms (SNPs) genome-wide significant for IFs, PMs, and MD served as instrumental variables. Inverse Variance Weighting (IVW), MR-Egger, and weighted median methods were applied. Mediation analysis quantified PMs' role in IF-MD associations. Sensitivity analyses (MR-PRESSO, leave-one-out) tested robustness.

Results: Genetically predicted higher CCL23 levels reduced MD risk (IVW OR = 0.5757 per SD decrease; 95% CI 0.3679-0.9007; p = 0.0156). No reverse causality from MD to IFs was observed (IVW OR = 0.9919; 95% CI 0.9812-1.0028; p = 0.1448). Mediation analysis revealed PMs accounted for 14.6% of the protective effect of IFs on MD. Elevated IF levels correlated with increased PMs (IVW OR = 1.0788; 95% CI 1.0125-1.1494; p = 0.0192), while higher PMs reduced MD risk (IVW OR = 0.5444; 95% CI 0.3006-0.9859; p = 0.0448). Sensitivity analyses confirmed result consistency, with no significant pleiotropy.

Conclusion: This study identifies CCL23 as a protective factor against MD, partially mediated by PMs. Findings underscore inflammation and metabolic pathways as potential therapeutic targets. Further validation in diverse populations and exploration of biological mechanisms are needed to advance MD treatment strategies.

Level of evidence: 5: