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INTRODUCTION: Purpose of our study was to compare two competing methods of performing bisyllabic word speech audiometry for the detection of the 50% speech reception threshold in noise (SRT50). METHODS: Classic method is performed submitting multiple word lists at a fixed signal-to-noise ratio. A newer Fast method - Italian Fast Speech Reception Threshold 50 (IFastSRT50) - is performed by means of program software with a single list of bisyllabic words and noise intensity shifting. RESULTS: Means comparison between SRT50 Classic and IFastSRT50 shows a slight significant correlation (r = 0.263; p = 0.044) and a wide significant difference: SRT50 Classic = -2.763 dB (SD = 4.1) and IFastSRT50 = -7.803 dB (SD = 2.1) (p < 0.0001). There is a high difference between the test execution time means (SRT50 Classic = 11 min, IFastSRT50 = 2 min; p < 0.0001). The correlation between test results and execution times was higher for SRT50 Classic than IFastSRT50. CONCLUSION: IFastSRT50 test is a reliable method to quickly investigate signal-to-noise ratio needed to obtain 50% of recognition scores with bisyllabic words; it allows less execution time than SRT50 Classic method and can avoid patient fatigue and other limitations of different speech discrimination tests in noise as sentences based ones.
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PURPOSE: Treatment de-intensification for p16 + oropharyngeal squamous cell carcinoma (OPSCC) is an area of active research to reduce the side effects and improve patients' quality of life (QoL). In this paper we evaluated the Overall Survival (OS), the Disease-Free Survival (DFS) and the QoL of patients affected by p16 + OPSCC according to their prognostic stage group (PSG) and different treatments. METHODS: Patients were selected retrospectively through our Electronic Tumor Board Database according to prespecified inclusion criteria. Basic data of eligible patients were recorded and analyzed. Then, OS and DFS were evaluated according to the PSG and the treatments performed. Patients alive completed three questionnaires: the QoL Questionnaire Core 30 (QLQ-C30), the QoL Questionnaire Head & Neck 43 (QLQ-HN43) and the MD Anderson Dysphagia Inventory (MDADI) questionnaire. RESULTS: Sixty-one patients were included in this study. Eight patients died from the disease and the remaining 53 patients completed the 3 questionnaires. Fifteen (25%) patients were treated with upfront surgery, 6 (10%) patients with definitive radiotherapy and 40 (65%) patients with concomitant chemoradiotherapy. Comparing the DFS and the OS of PSG I patients by the different treatments performed, no statistically significant difference was identified. Patients treated with upfront surgery showed better outcomes in some aspects of their QoL. CONCLUSION: For p16 + OPSCC PSG I patients, upfront surgery can be considered a valid alternative to radiotherapy or chemoradiotherapy while maintaining a comparable DFS and OS and giving patients better results in terms of specific aspects of their QoL.
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Neoplasias de Cabeça e Pescoço , Neoplasias Orofaríngeas , Infecções por Papillomavirus , Procedimentos Cirúrgicos Robóticos , Humanos , Carcinoma de Células Escamosas de Cabeça e Pescoço/etiologia , Intervalo Livre de Doença , Qualidade de Vida , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/terapia , Neoplasias Orofaríngeas/patologia , Quimiorradioterapia , Neoplasias de Cabeça e Pescoço/etiologiaRESUMO
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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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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Disfonia , Refluxo Laringofaríngeo , Canto , Humanos , Refluxo Laringofaríngeo/diagnóstico , Refluxo Laringofaríngeo/complicações , Autoavaliação (Psicologia) , Estudos Transversais , Qualidade da VozRESUMO
Background and objectives: Otoferlin is a multi-C2 domain protein implicated in neurotransmitter-containing vesicle release and replenishment of the cochlear inner hair cell (IHC) synapses. Mutations in the OTOF gene have been associated with two different clinical phenotypes: a prelingual severe-to-profound sensorineural hearing loss (ANSD-DFNB9); and the peculiar temperature-sensitive auditory neuropathy (TS-ANSD), characterized by a baseline mild-to-moderate hearing threshold that worsens to severe-to-profound when the body temperature rises that returns to a baseline a few hours after the temperature has fallen again. The latter clinical phenotype has been described only with a few OTOF variants with an autosomal recessive biallelic pattern of inheritance. Case report: A 7-year-old boy presented a picture compatible with TS-ANSD exacerbated by febrile states or physical exercise with mild-to-moderate hearing loss at low and medium frequencies and a decrease in speech discrimination that worsened with an unfavorable speech-to-noise ratio. Otoacoustic emissions (OAEs) were present whereas auditory brainstem responses (ABRs) evoked by a click or tone-burst were generally absent. No inner ear malformations were described from the CT scan or MRI. Next-generation sequencing (NGS) of the known deafness genes and multi-phasic bioinformatic analyses of the data detected in OTOF a c.2521G>A missense variant and the deletion of 7.4 Kb, which was confirmed by array-comparative genomic hybridization (array-CGH). The proband's parents, who were asymptomatic, were tested by Sanger sequencing and the father presented the c.2521G>A missense variant. Conclusions: The picture presented by the patient was compatible with OTOF-induced TS-ANSD. OTOF has been generally associated with an autosomal recessive biallelic pattern of inheritance; in this clinical report, two pathogenic variants never previously associated with TS-ANSD were described.
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Perda Auditiva Central , Perda Auditiva Neurossensorial , Humanos , Hibridização Genômica Comparativa , Perda Auditiva Central/genética , Perda Auditiva Neurossensorial/genética , Proteínas de Membrana/genética , Mutação , Temperatura , Masculino , CriançaRESUMO
BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a predominantly type 2 inflammation-mediated disease of the nasal mucosa and paranasal sinuses that often coexists with asthma. The role of atopy in the development and severity of CRSwNP is still a controversial issue. OBJECTIVE: The aim of our study was to propose a systematic allergy workup to identify atopic patients in the context of CRSwNP and to characterize their allergen sensitization profile (sources/molecules). METHODS: Patients with a diagnosis of CRSwNP (n = 97) were studied in the otorhinolaryngologist and allergy settings. Demographic and clinical data were collected for each patient. Different allergen sensitization profiles (sources/molecules) were evaluated in atopic CRSwNP patients by using component-resolved diagnosis (CRD). RESULTS: In our cohort of patients, the CRSwNP was frequently diagnosed during adulthood with significant impact on health-related quality of life. Asthma and atopy were the most common comorbidities with a prevalence of asthma in the atopic group. In CRSwNP patients sensitized to grass pollens and/or to house dust mites, the CRD analysis revealed a prevalence of sensitization to species-specific allergens of Phleum pratense (Phl p1, Phl p2, and Phl p5) or Dermatophagoides pteronyssinus (Der p1 and Der p2) rather than to cross-reactive ones. CONCLUSION: To define the allergen sensitization profile in atopic CRSwNP patients by CRD, it may be useful to better characterize type 2 inflammation, thus providing a personalized endotype-driven treatment.
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Asma , Hipersensibilidade Imediata , Hipersensibilidade , Pólipos Nasais , Sinusite , Adulto , Alérgenos , Asma/diagnóstico , Asma/epidemiologia , Doença Crônica , Humanos , Hipersensibilidade/epidemiologia , Inflamação , Pólipos Nasais/complicações , Pólipos Nasais/diagnóstico , Pólipos Nasais/epidemiologia , Qualidade de Vida , Sinusite/diagnóstico , Sinusite/epidemiologiaRESUMO
PURPOSE: The COVID-19 outbreak has led to an increasing number of acute laryngotracheal complications in patients subjected to prolonged mechanical ventilation, but their incidence in the short and mid-term after ICU discharge is still unknown. The main objective of this study is to evaluate the incidence of these complications in a COVID-19 group of patients and to compare these aspects with non-COVID-19 matched controls. METHODS: In this cohort study, we retrospectively selected patients from November 1 to December 31, 2020, according to specific inclusion and exclusion criteria. The follow-up visits were planned after 6 months from discharge. All patients were subjected to an endoscopic evaluation and completed two questionnaires (VHI-10 score and MDADI score). RESULTS: Thirteen men and three women were enrolled in the COVID-19 group while nine men and seven women were included in the control group. The median age was 60 [56-66] years in the COVID-19 group and 64 [58-69] years in the control group. All the patients of the control group showed no laryngotracheal lesions, while five COVID-19 patients had different types of lesions, two located in the vocal folds and three in the trachea. No difference was identified between the two groups regarding the VHI-10 score, while the control group showed a significantly worse MDADI score. CONCLUSIONS: COVID-19 patients subjected to prolonged invasive ventilation are more likely to develop a laryngotracheal complication in the short and medium term. A rigorous clinical follow-up to allow early identification and management of these complications should be set up after discharge.
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COVID-19 , Ventilação não Invasiva , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , COVID-19/epidemiologia , SARS-CoV-2 , Incidência , Estudos Retrospectivos , Estudos de Coortes , Respiração Artificial/efeitos adversosRESUMO
The COVID-19 outbreak has increased the incidence of tracheal lesions in patients who underwent invasive mechanical ventilation. We measured the pressure exerted by the cuff on the walls of a test bench mimicking the laryngotracheal tract. The test bench was designed to acquire the pressure exerted by endotracheal tube cuffs inflated inside an artificial model of a human trachea. The experimental protocol consisted of measuring pressure values before and after applying a maneuver on two types of endotracheal tubes placed in two mock-ups resembling two different sized tracheal tracts. Increasing pressure values were used to inflate the cuff and the pressures were recorded in two different body positions. The recorded pressure increased proportionally to the input pressure. Moreover, the pressure values measured when using the non-armored (NA) tube were usually higher than those recorded when using the armored (A) tube. A periodic check of the cuff pressure upon changing the body position and/or when performing maneuvers on the tube appears to be necessary to prevent a pressure increase on the tracheal wall. In addition, in our model, the cuff of the A tube gave a more stable output pressure on the tracheal wall than that of the NA tube.
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COVID-19 , Traqueia , Humanos , Unidades de Terapia Intensiva , Intubação Intratraqueal , SARS-CoV-2RESUMO
OBJECTIVE: To evaluate retrospectively the incidence of complications during fiberoptic endoscopic evaluation of swallowing (FEES) in 5,680 examinations. PATIENTS AND METHODS: 5,680 patients were evaluated at the Department of Otorhinolaryngology, Audiology and Phoniatrics of Pisa University Hospital between January 2014 and December 2018, involving both inpatients and outpatients. Most common comorbidities included neurological pathologies such as stroke (11.8%), neurodegenerative diseases (28.9%) and a history of previous head and neck surgery (24.6%). The evaluation was conducted by clinicians with experience in swallowing for a minimum of 10 years with the assistance of one or more speech-language pathologists. RESULTS: In all patients studied the endoscope insertion was tolerated, and it was possible to visualize the pharyngolaryngeal structures. Three subjects refused to undergo the procedure after being informed regarding the protocol and were therefore not included in this study. Most patients reported discomfort (70.1%) and gagging (20.8%). In a minority of patients complications were recorded, such as anterior epistaxis (0.1%), posterior epistaxis (0.02%), vasovagal crises (0.08%) and laryngospasm (0.04%). Especially laryngospasm was recorded in patients affected by amyotrophic lateral sclerosis. Multivariate binary logistic regression showed that discomfort (OR 9.944; CI 7.643-12.937), chronic gastrointestinal diseases (OR 2.003; CI 1.518-2.644), neurodegenerative diseases (OR 1.550; CI 1.302-1.846) and brain tumors (OR 1.577; CI 1.179-2.111) were risk factors associated with minor complications. CONCLUSIONS: FEES proved to be easy to perform, well tolerated by the patients and cost-effective. It can be performed at the patient's bedside, and it is characterized by a low rate of complications. As a matter of fact, normally only discomfort, gagging and/or vomiting are reported. Complications occurred only rarely, such as anterior or posterior epistaxis episodes or vasovagal crises, but these are still easily managed. Exceptionally, more severe complications are reported: adverse drug reactions to substances such as blue dye (methylene blue) and local anesthetics (not used in our protocol), and laryngospasm.
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Transtornos de Deglutição , Laringismo , Anestésicos Locais , Deglutição , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/etiologia , Endoscópios/efeitos adversos , Epistaxe/complicações , Engasgo , Humanos , Laringismo/complicações , Azul de Metileno , Estudos RetrospectivosRESUMO
AIM: The fully implantable middle ear implant (C-FI-MEI) is designed for patients with moderate-to-severe sensorineural hearing loss or those with mixed hearing loss. To analyze the audiological post-operative results of subjects bilaterally implanted with C-FI-MEI. MATERIALS AND METHODS: Retrospective study: 14 patients with bilateral, moderate-to-severe, sensorineural or mixed hearing loss were treated. This clinical sample included 14 cases bilaterally implanted (13 sequentially, 1 simultaneously). The evaluation at each follow-up after surgery included otologic examination, a structured interview, and different audiological tests composed of pure tone audiometry, speech in quiet and in noise test, and localization task. The mean follow-up was 67.2 ± 33 months. RESULTS: There were no significant differences between pre and post-operative pure tone averages. The patients showed no significant differences between pre-operatively aided and C-FI-MEI implant-aided conditions in terms of word recognition score. Speech perception in noise under different loudspeaker arrangements and localization tests demonstrated a binaural advantage in bilaterally implanted patients. The mean daily use time was 17.4 and 16.7 h, respectively, for right and left side. CONCLUSION: The results for the 14 patients, bilaterally implanted with C-FI-MEI, suggest that bilateral implantation of fully implantable middle ear hearing devices is an effective procedure. LEVEL OF EVIDENCE: 4.
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Perda Auditiva Neurossensorial , Prótese Ossicular , Percepção da Fala , Audição , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/cirurgia , Humanos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVES: The aim of this study was to evaluate the results after cochlear implant (CI) in elderly patients and to compare them to those obtained in younger adult patients. A possible correlation between the results in older CI recipients and some variables of the patients was also investigated. METHODS: The sample consisted of 107 patients over 40 years of age at surgery divided into 3 subgroups according to age at implantation. Results in terms of speech perception in silence and with background noise were compared between the 3 groups. The patients also completed the Glasgow Benefits Inventory (GBI) questionnaire. RESULTS: Older patients achieved significant benefits after CI with regard to speech perception in silence and with background noise. We also recorded benefits for the GBI. DISCUSSION: In line with the literature, our data confirm that CI is an effective procedure also in elderly patients, conferring benefits in speech perception and quality of life.
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Implantes Cocleares/psicologia , Qualidade de Vida/psicologia , Percepção da Fala , Adulto , Idoso , Idoso de 80 Anos ou mais , Limiar Auditivo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medida da Produção da Fala , Inquéritos e QuestionáriosRESUMO
Extracellular vesicles are submicron vesicles that upregulate the synthesis of proinflammatory mediators by lung epithelial cells. We investigated whether these structures adhere to lung epithelial cells, and whether adhesion is a prerequisite for their proinflammatory activity. Extracellular vesicles were generated by stimulation of normal human mononuclear cells with the calcium ionophore A23187, and labelled with carboxyfluorescein diacetate succinimidyl ester. Adhesion of vesicles to monolayers of immortalized bronchial epithelial (16HBE) and alveolar (A549) cells was analyzed by fluorescence microscopy. The role of candidate adhesion receptors was evaluated with inhibitory monoclonal antibodies and soluble peptides. The synthesis of proinflammatory mediators was assessed by ELISA. Transmission electron microscopy confirmed the generation of closed vesicles with an approximate size range between 50 and 600â¯nm. Adhesion of extracellular vesicles to epithelial cells was upregulated upon stimulation of the latter with tumor necrosis factor-α. Adhesion was blocked by an anti-CD18 antibody, by peptides containing the sequence RGD and, to a lesser extent, by an antibody to ICAM-1. The same molecules also blocked the upregulation of the synthesis of interleukin-8 and monocyte chemotactic protein-1 induced by extracellular vesicles. CD18-mediated adhesion of extracellular vesicles is a prerequisite for their proinflammatory activity.
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Adesão Celular/fisiologia , Células Epiteliais/metabolismo , Vesículas Extracelulares/metabolismo , Inflamação/metabolismo , Interleucina-8/metabolismo , Pulmão/metabolismo , Células A549 , Anticorpos Monoclonais/metabolismo , Brônquios/metabolismo , Brônquios/fisiologia , Linhagem Celular Tumoral , Células Epiteliais/fisiologia , Vesículas Extracelulares/fisiologia , Humanos , Molécula 1 de Adesão Intercelular/metabolismo , Pulmão/fisiologia , Monócitos/metabolismo , Monócitos/fisiologia , Fenótipo , Fator de Necrose Tumoral alfa/metabolismo , Regulação para Cima/fisiologiaRESUMO
PURPOSE: Transoral robotic surgery (TORS) and maxillo-mandibular advancement (MMA) are effective options for obstructive sleep apnea patients. Identification of the correct candidate is by far the most important item in achieving a succesful outcome. As a consequence, not all patients can be managed successfully via one or the other procedure. To overcome the limits of any single procedure we have combined, in a very selected population of patients, TORS tongue base reduction and MMA. Preliminary data are encouraging, in terms of both AHI and ESS. METHODS: A retrospective cohort study was conducted on five patients treated with combined TORS-MMA surgery. Demographic and clinical data, pre-operative and post-operative PSG and ESS were collected. RESULTS: Three of five patients were recruited. All patients presented severe OSAHS. Mean AHI and ESS went respectively from 48 and 12 pre-operatively to 19 and 4 post-operatively. Minor bleeding occurred in two patients. No significant sequelae have been reported. CONCLUSIONS: Combined TORS and MMA is feasible and safe. Our very preliminary data are encouraging, in terms of both AHI and ESS. Long-term follow-up and a larger amount of subjects are needed to confirm this surgical approach as a valuable option for selected OSAHS patient.
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Glossectomia/métodos , Avanço Mandibular/métodos , Procedimentos Cirúrgicos Bucais/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Apneia Obstrutiva do Sono/cirurgia , Supraglotite/cirurgia , Língua/cirurgia , Adulto , Feminino , Humanos , Laringe , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Bucais/instrumentação , Polissonografia , Estudos Retrospectivos , Robótica/métodos , Língua/patologia , Resultado do TratamentoRESUMO
The external auditory canal (EAC) is an osseocartilaginous structure extending from the auricle to the eardrum, which can be affected by congenital, inflammatory, and neoplastic diseases, thus reconstructive materials are needed. Current biomaterial-based approaches for the surgical reconstruction of EAC posterior wall still suffer from resorption (biological) and extrusion (synthetic). In this study, 3D fiber deposited scaffolds based on poly(ethylene oxide terephthalate)/poly(butylene terephthalate) were designed and fabricated to replace the EAC wall. Fiber diameter and scaffold porosity were optimized, leading to 200 ± 33 µm and 55% ± 5%, respectively. The mechanical properties were evaluated, resulting in a Young's modulus of 25.1 ± 7.0 MPa. Finally, the EAC scaffolds were tested in vitro with osteo-differentiated human mesenchymal stromal cells (hMSCs) with different seeding methods to produce homogeneously colonized replacements of interest for otologic surgery. This study demonstrated the fabrication feasibility of EAC wall scaffolds aimed to match several important requirements for biomaterial application to the ear under the Tissue Engineering paradigm, including shape, porosity, surface area, mechanical properties and favorable in vitro interaction with osteoinduced hMSCs. This study demonstrated the fabrication feasibility of outer ear canal wall scaffolds via additive manufacturing. Aimed to match several important requirements for biomaterial application to ear replacements under the Tissue Engineering paradigm, including shape, porosity and pore size, surface area, mechanical properties and favorable in vitro interaction with osteo-differentiated mesenchymal stromal cells.
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Materiais Biocompatíveis/química , Meato Acústico Externo/citologia , Nanofibras/química , Engenharia Tecidual/métodos , Alicerces Teciduais/química , Materiais Biocompatíveis/farmacologia , Células Sanguíneas/citologia , Células Sanguíneas/efeitos dos fármacos , Células Sanguíneas/fisiologia , Técnicas de Cultura de Células , Diferenciação Celular/efeitos dos fármacos , Células Cultivadas , Regeneração Tecidual Guiada/instrumentação , Regeneração Tecidual Guiada/métodos , Humanos , Teste de Materiais , Células-Tronco Mesenquimais/citologia , Células-Tronco Mesenquimais/efeitos dos fármacos , Células-Tronco Mesenquimais/fisiologia , Modelos Anatômicos , Polímeros/síntese química , Polímeros/química , Polímeros/farmacologia , Impressão Tridimensional , Engenharia Tecidual/instrumentaçãoRESUMO
PURPOSE: The aim of this work is to study otosclerotic patients by 3D-FLAIR (fluid attenuated inversion recovery) sequence magnetic resonance imaging (MRI) with and without Gadolinium administration (-/+ Gd), to understand whether there is a direct relationship between radiological findings at 3D FLAIR MRI sequences and some clinical features of otosclerosis, such as the presence and entity of sensorineural involvement, duration of disease, patient gender, and other factors. METHODS: 38 patients affected by different stages of unilateral or bilateral otosclerosis underwent 3D FLAIR MRI+/- Gd. 11 subjects with normal hearing, previously submitted to 3T MRI for other minor diseases, unrelated with otosclerosis, had been retrospectively enrolled as control group. RESULTS: We found significant correlations between 3D FLAIR MRI findings and some clinical features of otosclerosis, such as severity of cochlear damage (in terms of entity of sensorineural loss) and duration of disease. These findings indicate that at 3D-FLAIR MRI different patterns may depend on the level of blood labyrinth barrier damage in the cochlea, and be related to different stages of cochlear involvement in otosclerotic patients. CONCLUSIONS: We believe that our findings may contribute in understanding the pathogenesis of cochlear damage in otosclerosis and may have further prognostic value. Our results led us to consider the possible use of 3D-FLAIR sequences in monitoring the effectiveness of any medical therapy of otosclerosis and in selecting the patients eligible for treatment.
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Imageamento Tridimensional , Imageamento por Ressonância Magnética/métodos , Otosclerose/diagnóstico por imagem , Estudos de Casos e Controles , Meios de Contraste , Feminino , Gadolínio , Perda Auditiva Neurossensorial/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de DoençaRESUMO
PURPOSE: To assess the capability of three-dimensional fluid-attenuated inversion recovery (3D-FLAIR) sequences in detecting signal alterations of the endolabyrinthine fluid in patients with otosclerosis. MATERIALS AND METHODS: 3D-FLAIR before and after (-/+) gadolinium (Gd) administration was added to the standard MR protocol and acquired in 13 patients with a clinical/audiological diagnosis of severe/profound hearing loss in otosclerosis who were candidates for cochlear implantation and in 11 control subjects using 3-T magnetic resonance imaging (MRI) equipment. The MRI signal of the fluid-filled cochlea was assessed both visually and calculating the signal intensity ratio (SIR = signal intensity cochlea/brainstem). RESULTS: We revealed no endocochlear signal abnormalities on T1-weighted -/+ Gd images for either group, while on 3D-FLAIR we found bilateral hyperintensity with enhancement after Gd administration in eight patients and bilateral hyperintensity without enhancement in one patient. No endocochlear signal abnormalities were detected in other patients or the control group. CONCLUSION: Using 3-T MRI equipment, the 3D-FLAIR -/+ Gd sequence is able to detect the blood-labyrinth barrier (BLB) breakdown responsible for alterations of the endolabyrinthine fluid in patients with cochlear otosclerosis. We believe that 3D-FLAIR +/- Gd is an excellent imaging modality to assess the intra-cochlear damage in otosclerosis patients. KEY POINTS: ⢠Gd-enhanced T1-weighted MRI has limited application to detect intra-cochlear damage. ⢠3D-FLAIR is less sensitive to flux artefacts and allows multiplanar reconstruction. ⢠Post-Gd 3D-FLAIR is advantageous as it may highlight the BLB breakdown. ⢠Using 3D-FLAIR -/+ Gd, we were able to identify intra-cochlear signal hyperintensities. ⢠3D-FLAIR might be applied for monitoring disease progression and treatment response.
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Otosclerose/diagnóstico por imagem , Adulto , Idoso , Artefatos , Estudos de Casos e Controles , Cóclea/diagnóstico por imagem , Implante Coclear , Meios de Contraste , Orelha Interna/diagnóstico por imagem , Feminino , Gadolínio , Gadolínio DTPA , Humanos , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Otosclerose/cirurgiaRESUMO
The Carina© system (Cochlear Ltd, Sydney, Australia) is a totally implantable prosthesis designed to meet the needs of acoustic amplification in adults with moderate-to-severe sensorineural or mixed hearing loss. It mechanically stimulates the ossicles or labyrinthine windows. The object of this study was to update surgical and functional results obtained in a consistent sample of Carina© recipients. The data sheets of 26 patients who underwent Carina© surgery at two ENT units [i.e., ENT Audiology and Phoniatrics Unit of the University Hospital of Pisa (Pisa, Italy) and ENT Unit of "Guglielmo da Saliceto" Hospital of Piacenza (Piacenza, Italy)] were evaluated for the surgical and audiological outcomes. Twenty patients received a unilateral device, whereas six patients were bilaterally implanted (simultaneously in one patient and sequentially in the remaining five patients). The total number of ears implanted in this study was 32. Most implanted patients expressed a high degree of satisfaction with the prosthesis, which highlights the improvement in hearing in different environmental conditions, the cosmetic advantages, and greater freedom in performing common activities in daily living. Audiological examination demonstrated valid functional gain and significant improvement in speech perception in quiet. Based on this experience, the Carina© is a valid alternative to hearing aids. Moreover, a bilateral implantation, even a simultaneous implantation, is a viable option for selected motivated patients because the intervention is generally well tolerated and the surgery time is relatively fast.
Assuntos
Auxiliares de Audição , Perda Auditiva Condutiva-Neurossensorial Mista/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Próteses e Implantes , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Percepção da Fala , Adulto JovemRESUMO
OBJECTIVE: To perform a retrospective evaluation of the incidence of complications and adverse events during fiberoptic endoscopic evaluation of swallowing (FEES) in 2,820 examinations. PATIENTS AND METHODS: Subjects included in- and outpatients at Pisa University Hospital referred for FEES by other physicians due to dysphagia symptoms. Neurologic diseases were the most commonly diagnosed conditions in the patients tested (48.3%). Informed consent was obtained from all subjects. RESULTS: Our study showed minor side effects (discomfort, occasional gagging and vomiting) and a few complications [three cases of anterior epistaxis (0.1%), one case of posterior epistaxis (0.04%), three cases of vasovagal syncope (0.1%) and two cases of laryngospasm (0.07%)]. These cases of laryngospasm occurred in patients with amyotrophic lateral sclerosis (ALS) and spontaneously resolved after some difficulty. CONCLUSIONS: Our study confirms the published data regarding the safety of FEES and the incidence of complications with this procedure, but also highlights that in neurologic patients with neurodegenerative diseases such as ALS, laryngospasm is more likely to occur as a severe complication. The overall risk of FEES is minimal, but it is recommended that clinicians be well trained in recognising the signs and symptoms of adverse reactions and be ready to take appropriate action if these occur.
Assuntos
Transtornos de Deglutição/diagnóstico , Deglutição , Tecnologia de Fibra Óptica , Endoscopia , Humanos , Estudos RetrospectivosRESUMO
Here, we report on a patient with a 625 kb duplication in Xp22.12, detected by array comparative genomic hybridization (CGH). The duplicated region contains only one gene, RPS6KA3, that results in partial duplication. The same duplication was present in his mother and his maternal uncle. This partial duplication inhibits the RPS6KA3 expression, mimicking the effect of loss-of-function mutations associated with Coffin-Lowry syndrome (CLS). The phenotype of the patient here presented is not fully evocative of this syndrome because he does not present some of the facial, digital and skeletal abnormalities that are considered the main diagnostic features of CLS. This case is one of the few examples where RPS6KA3 mutations are associated with a non-specific X-linked mental retardation.