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INTRODUCTION: This study proposes a revised version of the Reflux Symptom Index (R-RSI), a seventeen-item questionnaire that was revised to increase the suspicion of laryngopharyngeal reflux disease (LPRD). METHODS: Internal validation involved 213 participants, comprising 160 subjects without a previous LPRD diagnosis and 53 subjects with a self-reported previous diagnosis of LPRD with or without gastroesophageal reflux disease (GERD). Test-retest reliability and internal consistency were calculated. For the external validation, 56 patients (independent from the previous cohort) were enrolled to explore the R-RSI screening properties and determine a cutoff using 24-h MII-pH as the gold standard. RESULTS: R-RSI test-retest reliability was high, both for the total score (ICC: 0.970) and for each item (ranging from 0.876 to 0.980). Cronbach's alpha was 0.910, indicating excellent internal consistency of the questionnaire. Participants with a previous self-reported diagnosis scored significantly higher (mean 24.94 ± 7.4; median 26, IQR 20-29) than those without a previous diagnosis (mean 4.66 ± 5.3; median 4, IQR 1-6) (p value <0.0001). Participants with both previous LPRD and GERD diagnoses had higher scores (27.20 ± 7.8) compared to those with only LPRD (21.77 ± 5.5) (p value = 0.003). Using 24-h MII-pH diagnosis as a gold standard, the optimal R-RSI cutoff point was determined to be 18, with a sensitivity of 84.5% and a specificity of 81.8%, positive predictive value of 95%, and negative predictive value of 60%. CONCLUSIONS: Our results suggest that the R-RSI may be useful to suspect LPRD, with or without GERD. The R-RSI is a self-administered patient-reported outcome questionnaire that demonstrates excellent reliability and high screening properties. Employing a cutoff of ≥18 in the R-RSI can assist in diagnosing and monitoring LPRD.
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BACKGROUND: Despite numerous studies, the true scenario of hearing loss in beta-thalassaemia remains rather nebulous. MATERIALS AND METHODS: Pure tone audiometry, chelation therapy, demographics and laboratory data of 376 patients (mean age 38.5 ± 16.6 years, 204 females, 66 non-transfusion-dependent) and 139 healthy controls (mean age 37.6 ± 17.7 years, 81 females) were collected. RESULTS: Patient and control groups did not differ for age (p = 0.59) or sex (p = 0.44). Hypoacusis rate was higher in patients (26.6% vs. 7.2%; p < 0.00001), correlated with male sex (32.6% in males vs. 21.8% in females; p = 0.01) and it was sensorineural in 79/100. Hypoacusis rate correlated with increasing age (p = 0.0006) but not with phenotype (13/66 non-transfusion-dependent vs. 87/310 transfusion-dependent patients; p = 0.16). Sensorineural-notch prevalence rate did not differ between patients (11.4%) and controls (12.2%); it correlated with age (p = 0.01) but not with patients' sex or phenotype. Among adult patients without chelation therapy, the sensorineural hypoacusis rate was non-significantly lower compared to chelation-treated patients while it was significantly higher compared to controls (p = 0.003). CONCLUSIONS: Sensorineural hypoacusis rate is high in beta-thalassaemia (about 21%) and it increases with age and in males while disease severity or chelation treatment seems to be less relevant. The meaning of sensorineural-notch in beta-thalassaemia appears questionable.
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Talasemia beta , Humanos , Talasemia beta/complicaciones , Talasemia beta/terapia , Masculino , Femenino , Adulto , Estudios de Casos y Controles , Persona de Mediana Edad , Italia/epidemiología , Adulto Joven , Terapia por Quelación , Pérdida Auditiva/epidemiología , Pérdida Auditiva/etiología , Adolescente , Audiometría de Tonos Puros , Pérdida Auditiva Sensorineural/epidemiología , Pérdida Auditiva Sensorineural/etiología , PrevalenciaRESUMEN
BACKGROUND: Tinnitus is a quite common and bothersome disorder that results in a perceived sound or noise, without an external origin, often causing notable psychological distress. Some interconnections between tinnitus, bodily pain perception, and psychological well-being were previously reported, thus the relationships between tinnitus and temporomandibular joint (TMJ)-related muscle issues, resulting in somatosensory tinnitus, must be deeply investigated. This study aims to assess the prevalence of tinnitus in patients with temporomandibular disorders (TMD) and to examine the correlation between tinnitus and scales assessing the severity of TMD as well as psychological-related parameters. MATERIALS AND METHODS: In this cross-sectional study, a total of 37 adults with TMD symptoms were enrolled. Diagnostic data were collected using the Axis II of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) and the Tinnitus Handicap Inventory (THI) questionnaire. Statistical analysis included descriptive assessments and significance was set at p < .05. RESULTS: Individuals with tinnitus and TMD reported a significantly higher number of body pain areas, indicating a link between tinnitus and increased bodily pain perception. Tinnitus did not significantly impact TMJ-related functions. Significantly higher levels of psychological distress were observed in individuals with tinnitus, as evidenced by elevated scores in depression, generalised anxiety and somatic symptoms. CONCLUSION: Tinnitus is a complex condition with significant effects on health and well-being, requiring an interdisciplinary approach for effective evaluation and care. The study provides deep insights into the prevalence of tinnitus in TMD patients, underscoring the need for comprehensive treatment strategies addressing both TMD and tinnitus.
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Trastornos de la Articulación Temporomandibular , Acúfeno , Humanos , Acúfeno/psicología , Acúfeno/epidemiología , Acúfeno/complicaciones , Acúfeno/fisiopatología , Trastornos de la Articulación Temporomandibular/psicología , Trastornos de la Articulación Temporomandibular/complicaciones , Trastornos de la Articulación Temporomandibular/fisiopatología , Trastornos de la Articulación Temporomandibular/epidemiología , Femenino , Masculino , Estudios Transversales , Adulto , Persona de Mediana Edad , Prevalencia , Encuestas y Cuestionarios , Evaluación de la Discapacidad , Dimensión del Dolor , Índice de Severidad de la Enfermedad , Adulto Joven , AncianoRESUMEN
Objective: The aim of this study was to compare the efficacy of voice therapy combined with standard anti-reflux therapy in reducing symptoms and signs of laryngopharyngeal reflux (LPR). Methods: A randomised clinical trial was conducted. Fifty-two patients with LPR diagnosed by 24 h multichannel intraluminal impedance-pH monitoring were randomly allocated in two groups: medical treatment (MT) and medical plus voice therapy (VT). Clinical symptoms and laryngeal signs were assessed at baseline and after 3 months of treatment with the Reflux Symptom Index (RSI), Reflux Finding Score (RFS), Voice Handicap Index (VHI) and GRBAS scales. Results: Groups had similar scores at baseline. At 3-month follow-up, a significant decrease in RSI and RFS total scores were found in both groups although it appeared to be more robust in the VT group. G and R scores of the GRBAS scale significantly improved after treatment in both groups, with better results in the VT group. The VHI total score at 3 months improved more in the VT group (VHI delta 9.54) than in the MT group (VHI delta 5.38) (p < 0.001). Conclusions: The addition of voice therapy to medications and diet appears to be more effective in improving treatment outcomes in subjects with LPR. Voice therapy warrants consideration in addition to medication and diet when treating patients with LPR.
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Reflujo Laringofaríngeo , Voz , Humanos , Reflujo Laringofaríngeo/diagnóstico , Reflujo Laringofaríngeo/tratamiento farmacológico , Proyectos Piloto , Inhibidores de la Bomba de Protones/uso terapéutico , Calidad de la VozAsunto(s)
COVID-19 , Disfonía , Humanos , COVID-19/complicaciones , Disfonía/etiología , Enfermedad Aguda , Masculino , Femenino , Persona de Mediana Edad , SARS-CoV-2RESUMEN
BACKGROUND: Sulcus Vocalis (SV) is a voice disorder characterized by the parallel invagination of the vocal fold epithelium that adheres to the vocal ligament. This condition disrupts the vibratory function, leading to glottal incompetence, hoarseness, and vocal impairment. Despite various proposed surgical techniques, a standardized treatment approach remains elusive. METHODS: We conducted a comprehensive search across PubMed/Medline, Embase, Web of Science, Scholar, and the Cochrane Library for studies on SV treatment. The inclusion criteria comprised original studies comparing pre- and post-treatment vocal outcomes in SV patients, published in English. We excluded case reports, reviews, studies without continuous data, and patients with vocal scar/atrophy. RESULTS: Fifteen observational studies were included (361 patients, 53.73 % male, average age 41.64 years). 80 % of these studies employed self-reported outcomes, while 81.25 % analyzed acoustic/aerodynamic data. The follow-up period varied from 4 to 44 months. All techniques significantly improved Voice Handicap Index (VHI) scores (p < 0.001). Dissective and combined techniques exhibited greater reductions in VHI-30/10 (p < 0.001). Maximum Phonation Time (MPT) improved significantly across all techniques (p < 0.001), with dissective techniques demonstrating superior MPT outcomes (p < 0.001). Jitter improved significantly for dissective and injective techniques (p < 0.001), as did Shimmer for all techniques (p < 0.001). Notably, combined techniques displayed the most significant reductions (p < 0.001). CONCLUSIONS: Surgical treatments significantly improve subjective, aerodynamic, and acoustic outcomes in SV patients. Dissective and combined dissective/injective techniques appear to yield better perceptual and phonatory outcomes compared to injective techniques alone. Further research is necessary to establish the optimal treatment approach for SV.
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Trastornos de la Voz , Calidad de la Voz , Humanos , Acústica , Resultado del Tratamiento , Pliegues Vocales/cirugía , Trastornos de la Voz/cirugía , Trastornos de la Voz/etiologíaRESUMEN
Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SGSH gene encoding N-sulfoglucosamine sulfohydrolase, an enzyme involved in the degradation of heparan sulfate. MPS IIIA is typically characterized by neurocognitive decline and hepatosplenomegaly with childhood onset. Here, we report on a 53-year-old male subject initially diagnosed with Usher syndrome for the concurrence of retinitis pigmentosa and sensorineural hearing loss. Clinical exome sequencing identified biallelic missense variants in SGSH, and biochemical assays showed complete deficiency of sulfamidase activity and increased urinary glycosaminoglycan excretion. Reverse phenotyping revealed left ventricle pseudo-hypertrophy, hepatosplenomegaly, bilateral deep white matter hyperintensities upon brain MRI, and decreased cortical metabolic activity by PET-CT. On neuropsychological testing, the proband presented only partial and isolated verbal memory deficits. This case illustrates the power of unbiased, comprehensive genetic testing for the diagnosis of challenging mild or atypical forms of MPS IIIA.
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Mucopolisacaridosis III , Síndromes de Usher , Masculino , Humanos , Niño , Persona de Mediana Edad , Mucopolisacaridosis III/diagnóstico , Mucopolisacaridosis III/genética , Hidrolasas/genética , Tomografía Computarizada por Tomografía de Emisión de Positrones , Síndromes de Usher/diagnóstico , Síndromes de Usher/genética , Pruebas Genéticas , Hepatomegalia/genéticaRESUMEN
BACKGROUND: To investigate perception, adoption, and awareness on the part of otolaryngology and head and neck surgeons (OTO-HNS) of transoral robotic surgery (TORS). METHODS: Several items assessed: awareness/perception; access to TORS; training; indications and advantages/hurdles to TORS practice. A subanalysis was performed to assess differences according to the identified otolaryngological subspecialties. RESULTS: A total of 359 people completed the survey. Among subspecialties, while for otolaryngologists 30/359 (8.4%) and H&N surgeons 100/359 (27.9%) TORS plays an effective role in hospital stay, laryngologists frequently disagreed (54.3%). There was a lower incidence among rhinologists and otologists (1.9%). Pediatric surgeons (0.8%) reported a positive response regarding the adoption of robotic surgery, and head and neck specialists expressed an even greater response (14.2%). Low adherence was related to perceived cost-prohibitive TORS, by 50% of H&N surgeons. CONCLUSIONS: Perception, adoption, and knowledge about TORS play a key role in the application of the robotic system, significantly varying across subspecialties.
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(1) Background: Non-squamous cell laryngeal carcinoma includes endothelial tumors, such as minor salivary gland tumors, lymphoepithelial tumors, neuroendocrine tumors, soft and hard tissue sarcomas, and malignant melanomas. (2) Methods: A state-of-the-art review using the MEDLINE/PUBMED, Google Scholar, Ovid Medline, Embase, and Scopus electronic databases was performed. (3) Conclusions: In order to optimize overall treatment outcomes, a multidisciplinary, patient-centered approach to the management of non-SCC of the larynx must be adopted universally; a national or international registry on non-SCC laryngeal cancer can be useful to improve understanding about the behavior of this kind of tumor.
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Objective: The aim of this study was to adapt and validate the Italian version of the singing Voice Handicap Index-10 (SVHI-10-IT). Methods: 99 Italian singers were enrolled in the study. All subjects underwent videolaryngostroboscopic examination and were asked to fill out the self-reported 10-item SVHI-10-IT. Laryngostroboscopic examination was pathological in 56 subjects (study group) (56.6%), while it was normal in the remaining 43 singers (control group) (43.4%). Dimensionality, test retest and internal validity for SVHI-10-IT were performed. Videolaryngostroboscopy was used as gold-standard for external validity. Results: The items of SVHI-10-IT were uni-dimensional and Cronbach's α was 0.853 (95% CI = 0.805-0.892). High and comparable area under curve (AUC:0.93 95% CI = 0.88-0.98) values indicate a good ability of the scale to distinguish between the study and control groups. Based on balanced sensitivity (Se = 83.9%) and specificity (Sp = 86.0%), the optimal cut-off score for a singer's perceived voice handicap was 12. Conclusions: The SVHI-10-IT is a reliable and valid instrument to evaluate the self-reported singing voice handicap among singers. It can also be used as a quick screening tool since a score higher than 12 is indicative of a problematic voice as perceived by singers.
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Canto , Trastornos de la Voz , Humanos , Trastornos de la Voz/diagnóstico , Calidad de la Voz , Evaluación de la Discapacidad , Reproducibilidad de los Resultados , Encuestas y CuestionariosRESUMEN
INTRODUCTION: The present study aimed to develop a new tool for the evaluation of singers with self-reported symptoms suggestive of laryngopharyngeal reflux (LPR) (the SVHI-12-LPR), by correlating RSI with SVHI in a population sample of 163 subjects (both professional and amateur singers), evaluated also by videolaryngostroboscopy. This study was a cross-sectional, double-observational study. METHODS: RSI and SVHI were administered to 159 singers (amateurs, singing students, and professional singers). All subjects underwent videolaryngostroboscopy to objectively identify four subgroups: normal subjects (41.5%), subjects with organic lesions occupying the glottic space (17.6%), subjects with functional dysphonia (18.2%), and subjects presenting solely signs suggestive of LPR (22.6%). Using the validated RSI threshold, 33.9% of participants presented an RSI total score >13, suggestive of LPR. RESULTS: Subjects with a suspected diagnosis of LPR at videolaryngostroboscopy presented a mean RSI significantly higher than other subgroups (p < 0.001). Moreover, the SVHI-36 score did not statistically differ between pathological subgroups. A significant positive relationship was observed between RSI and SVHI total score (Spearman's rank correlation coefficient [ρ] = 0.474, p < 0.001). 12 SVHI items (items 1, 2, 4, 5, 6, 7, 12, 20, 24, 25, 26, 30) showed a significant association with RSI pathology classification. Statistical analysis demonstrated for the 12 selected items (SVHI-12-LPR) acceptable specificity (0.691) and sensibility (0.833) for the suspected diagnosis of LPR with a cut-off of 15. CONCLUSIONS: From the SVHI-36, 12 items were extracted that correlated with the specific impact that LPR has on the singer's voice (SVHI-12-LPR), as evaluated by RSI and videolaryngostroboscopy. Such questionnaire represents a new tool that could be applied to singers with symptoms suggestive of LPR to select which patients would benefit from a further phoniatric and videolaryngostroboscopic evaluation.
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Disfonía , Reflujo Laringofaríngeo , Canto , Humanos , Reflujo Laringofaríngeo/diagnóstico , Reflujo Laringofaríngeo/complicaciones , Autoevaluación (Psicología) , Estudios Transversales , Calidad de la VozRESUMEN
OBJECTIVES: To evaluate the correlation between voice disorders and psychological distress, in terms of anxiety, stress, and depression, in a sample of adult Italian patients and to compare our results with those obtained in a group of adult healthy controls matched by age, sex, geographic distribution, and occupation. METHODS: This prospective-controlled study included 100 adults with Vocal nodules (VN) and Muscle Tension Dysphonia (MTD1), aged between 18 and 65 years, as Experimental Group (EG) and 100 age-matched subjects without any voice disorders as a Control Group (CG). All patients in the EG underwent a phoniatric evaluation, including the administration of the Voice Handicap Index (VHI) and laryngeal examination. Both patients of EG and CG underwent a Psychological evaluation by means of standardized tests; Beck's Depression Inventory, State Anxiety Inventory (STAI 1-State Anxiety), Trait Anxiety Inventory (STAI 2- Trait Anxiety), and Perceived Stress Scale (PSS-10) were completed by patients. Fisher's exact test and chi-squared test were used to compare all categorical variables, whereas numerical variables were compared either with the nonparametric Mann-Whitney-Wilcoxon or with Kruskal Wallis test. General linear models were used to study continuous variables between patients and controls and between different groups within the sample. RESULTS: In the study group, the Physical domain (P score) of the VHI was more affected than the Emotional (E score) and Functional ones (F score) both in patients with MTD1 and VN; patients with VN presented a significant difference in P score, E score and VHI total score than patients with isolated MTD 1 (P < 0.005). Psychological assessment showed a significant difference (P < 0.005) between VN and MTD 1 regarding PSS-10 and STAI-1 scores. Low Beck's Depression Inventory scores were present in our sample without significant differences between patients with VN and those with MTD 1. Scores related to psychological distress in the EG were far superior to those obtained by the healthy CG, with markedly significant values especially for PSS-10 (P < 0.0001) and STAI 2 (P < 0.01). Finally, younger patients (18-35 years) with VN showed a highest risk of psychosocial distress. CONCLUSION: the present study identified a high prevalence of psychological distress among patients with vocal disorders without any prior specific psychiatric diagnosis, especially in terms of anxiety and perceived stress. For this reason both these symptoms should be taken into consideration in the diagnostic, therapeutic, and follow-up process of patients with MTD1 and VN.
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Disfonía , Distrés Psicológico , Humanos , Adulto , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Estudios Prospectivos , Tono Muscular , Calidad de la Voz , MúsculosRESUMEN
INTRODUCTION: To explore the prevalence of dysphonia in European patients with mild-to-moderate COVID-19 and the clinical features of dysphonic patients. METHODS: The clinical and epidemiological data of 702 patients with mild-to-moderate COVID-19 were collected from 19 European Hospitals. The following data were extracted: age, sex, ethnicity, tobacco consumption, comorbidities, general, and otolaryngological symptoms. Dysphonia and otolaryngological symptoms were self-assessed through a 4-point scale. The prevalence of dysphonia, as part of the COVID-19 symptoms, was assessed. The outcomes were compared between dysphonic and nondysphonic patients. The association between dysphonia severity and outcomes was studied through Bayesian analysis. RESULTS: A total of 188 patients were dysphonic, accounting for 26.8% of cases. Females developed more frequently dysphonia than males (P = 0.022). The proportion of smokers was significantly higher in the dysphonic group (P = 0.042). The prevalence of the following symptoms was higher in dysphonic patients compared with nondysphonic patients: cough, chest pain, sticky sputum, arthralgia, diarrhea, headache, fatigue, nausea, and vomiting. The severity of dyspnea, dysphagia, ear pain, face pain, throat pain, and nasal obstruction was higher in dysphonic group compared with nondysphonic group. There were significant associations between the severity of dysphonia, dysphagia, and cough. CONCLUSION: Dysphonia may be encountered in a quarter of patients with mild-to-moderate COVID-19 and should be considered as a symptom list of the infection. Dysphonic COVID-19 patients are more symptomatic than nondysphonic individuals. Future studies are needed to investigate the relevance of dysphonia in the COVID-19 clinical presentation.
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COVID-19 , Disfonía , Teorema de Bayes , COVID-19/diagnóstico , COVID-19/epidemiología , Disfonía/diagnóstico , Disfonía/epidemiología , Femenino , Ronquera , Humanos , Masculino , PrevalenciaRESUMEN
OBJECTIVE: To correlate, RSI with SVHI, in a group of singing students, by means of a specific anamnestic questionnaire which analyzes the physical, social, emotional, and economic impacts of voice problems on their lives. This study is a cross-sectional single-center observational study. METHODS: Forty-two modern singing students (26F/16M; average age: 24.9 ± 5.7; range: 16-46 years old) were recruited. A self-assessment of the singing-voice (SVHI) and of reflux symptom (RSI) was performed. RESULTS: Using the validated RSI threshold, 31% of participants were classified as RSI greater than 13 as an indication of suspected LPR. Classifying the SVHI score as proposed in the recent literature (cutoff of 20.35) our sample was a voice disorders prevalence of 71.4%. There was no significant positive or negative relationship between RSI and SVHI total score (rho = 0.238, P = 0.13). Instead, by considering the relationship between the individual items of the two questionnaires, it is highlighted that the item 1 of SVHI was significantly correlated with most of the RSI items (P = 0.0001-0.006). In the same vein, the item 5 of SVHI was correlated to hoarseness and coughing (P = 0.005-0.006). The item 20 of SVHI was significantly correlated with hoarseness, excess mucus in the throat or postnasal drip and with the pharyngeal Globus sensation (P = 0.001-0.005). By aggregating the SVHI item response as a positive response (2-4) versus a negative response (0 or 1) between "RSI pathology classification," a significant association was observed for SVHI item 1 (P < 0.021), item 5 (P < 0.006), item 20 (P < 0.042), item 24 (P < 0.044) item 25 (P < 0.047). These associations were confirmed by univariate binary logistic. Multivariate binary logistic regression confirms that SVHI Item 1, Item 5 were more associated with RSI positive. Based on results, we propose a questionnaire that combines the most relevant SVHI items correlated to LPRD (SVHI-10-LPRD questionnaire). Cronbach's alpha coefficient for the 10 items selected was 0.87; item-total correlation coefficients for each item were in the range of 0.461 to 0.670. CONCLUSIONS: This pilot study shows that, in case of significant RSI for LPR, it is possible to observe a significant association with some symptoms described in SVHI. These results underline that the association of the RSI and SVHI questionnaires administered to singers and singing students, can represent a simple screening to reveal possible alterations of the singing voice correlate to LPR. Moreover, we propose a Singing Voice Handicap Index correlated to LPR (SVHI-10-LPRD). It will be necessary to increase the sample of subjects in the study to confirm these preliminary data.
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Reflujo Laringofaríngeo , Canto , Trastornos de la Voz , Adolescente , Adulto , Estudios Transversales , Evaluación de la Discapacidad , Humanos , Persona de Mediana Edad , Proyectos Piloto , Reproducibilidad de los Resultados , Estudiantes , Encuestas y Cuestionarios , Trastornos de la Voz/diagnóstico , Trastornos de la Voz/epidemiología , Trastornos de la Voz/psicología , Calidad de la Voz , Adulto JovenRESUMEN
OBJECTIVES: To confirm the data reported in our previous studies on the analysis of the variability of the electroglottographic signal in the pathological voice; to evaluate possible differences in variability between organic and functional pathologies; to identify any distinctive/typical EGG patterns for these pathologies. METHODS: One hundred twenty-five subjects were enrolled (36 euphonic and 89 pathological: 24 functional dysphonia, 21 bilateral vocal nodules, 23 unilateral polyps and 21 unilateral cysts). All subjects were studied with videolaryngostroboscopy, spectrographic analysis of voice and electroglottography (EGG). The EGG signal variability was then investigated using amplitude-speed combined analysis, by means of a proprietary software algorithm. Amplitude and Speed variation were expressed as a new parameter, the Variability Index (VI), calculated both for the whole EGG signal recorded (VI-tot) and in each phase of the glottic cycle (VI-Q, absolute value; VI-Q%, percentage value). RESULTS: In the comparison of VI values between pathological and normal groups, VI-tot and VI-Q2% (which corresponds to the final phase of vocal fold contact) were significantly greater in pathological subjects (P= 0.002). The comparison of VI values among subgroups of the various pathologies showed a difference for VI-tot (P< 0.0001) and VI-Q2% (P= 0.001); this difference was more marked in the cysts than in the functional dysphonia. The cut-off values of VI-tot and VI-Q2% were 0.191 and 18.17%, respectively (sensitivity and specificity 65.2% and 66.7% for VI-tot and 84.3% and 77.8% for VI-Q2%). CONCLUSIONS: The variability of the EGG signal investigated through the combined analysis of the amplitude and the speed of vibration using a proprietary algorithm software has proved useful not only to distinguish the normal voice from the pathological voice, but also to characterize which phases are more altered in the various voice pathologies studied, both functional and organic. Furthermore, the analysis of the VI parameter allowed to propose cut-off values characterized by a good sensitivity and specificity to discriminate dysphonia from the euphonic voice. Larger groups of patients will be needed to confirm these results.
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Quistes , Disfonía , Humanos , Disfonía/diagnóstico , Fonación , Calidad de la Voz , Electrodiagnóstico/métodos , Trastornos PsicofisiológicosRESUMEN
BACKGROUND: Sensorineural hearing loss in beta-thalassemia is common and it is generally associated with iron chelation therapy. However, data are scarce, especially on adult populations, and a possible involvement of the central auditory areas has not been investigated yet. We performed a multicenter cross-sectional audiological and single-center 3Tesla brain perfusion MRI study enrolling 77 transfusion-dependent/non transfusion-dependent adult patients and 56 healthy controls. Pure tone audiometry, demographics, clinical/laboratory and cognitive functioning data were recorded. RESULTS: Half of patients (52%) presented with high-frequency hearing deficit, with overt hypoacusia (Pure Tone Average (PTA) > 25 dB) in 35%, irrespective of iron chelation or clinical phenotype. Bilateral voxel clusters of significant relative hypoperfusion were found in the auditory cortex of beta-thalassemia patients, regardless of clinical phenotype. In controls and transfusion-dependent (but not in non-transfusion-dependent) patients, the relative auditory cortex perfusion values increased linearly with age (p < 0.04). Relative auditory cortex perfusion values showed a significant U-shaped correlation with PTA values among hearing loss patients, and a linear correlation with the full scale intelligence quotient (right side p = 0.01, left side p = 0.02) with its domain related to communication skills (right side p = 0.04, left side p = 0.07) in controls but not in beta-thalassemia patients. Audiometric test results did not correlate to cognitive test scores in any subgroup. CONCLUSIONS: In conclusion, primary auditory cortex perfusion changes are a metabolic hallmark of adult beta-thalassemia, thus suggesting complex remodeling of the hearing function, that occurs regardless of chelation therapy and before clinically manifest hearing loss. The cognitive impact of perfusion changes is intriguing but requires further investigations.