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1.
Folia Phoniatr Logop ; 75(5): 284-294, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36822157

RESUMO

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.


Assuntos
Disfonia , Refluxo Laringofaríngeo , Canto , Humanos , Refluxo Laringofaríngeo/diagnóstico , Refluxo Laringofaríngeo/complicações , Autoavaliação (Psicologia) , Estudos Transversais , Qualidade da Voz
2.
Medicina (Kaunas) ; 59(3)2023 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-36984609

RESUMO

Background. Defects of mitochondrial DNA (mtDNA) involved in the function of the mitochondrial electron transport chain can result in primary mitochondrial diseases (PMDs). Various features can influence the phenotypes of different PMDs, with relevant consequences on clinical presentation, including the presence of hearing impairment. This paper aims to describe the hearing loss related to different PMDs, and when possible, their phenotype. Methods. A systematic review was performed according to PRISMA guidelines, searching Medline until December 2022. A total of 485 papers were identified, and based on specified criteria, 7 were included in this study. Results. A total of 759 patients affected by PMDs and hearing loss were included. The age of patients ranged from 2 days to 78 years old, and the male-to-female ratio was 1.3:1. The percentage of subjects affected by hearing loss was 40.8%, (310/759), and in most cases, hearing impairment was described as sensorineural, bilateral, symmetrical, and progressive, with different presentations depending on age and syndrome severity. Conclusions. PMDs are challenging conditions with different clinical phenotypes. Hearing loss, especially when bilateral and progressive, may represent a red flag; its association with other systemic disorders (particularly neuromuscular, ocular, and endocrine) should alert clinicians, and confirmation via genetic testing is mandatory nowadays.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Doenças Mitocondriais , Masculino , Feminino , Humanos , Perda Auditiva Neurossensorial/genética , Doenças Mitocondriais/complicações , Doenças Mitocondriais/epidemiologia , Doenças Mitocondriais/genética , Mitocôndrias/genética , Perda Auditiva/epidemiologia , Perda Auditiva/genética , DNA Mitocondrial/genética
3.
Medicina (Kaunas) ; 59(11)2023 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-38004094

RESUMO

There is substantial experimental and clinical interest in providing effective ways to both prevent and slow the onset of hearing loss. Auditory hair cells, which occur along the basilar membrane of the cochlea, often lose functionality due to age-related biological alterations, as well as from exposure to high decibel sounds affecting a diminished/damaged auditory sensitivity. Hearing loss is also seen to take place due to neuronal degeneration before or following hair cell destruction/loss. A strategy is necessary to protect hair cells and XIII cranial/auditory nerve cells prior to injury and throughout aging. Within this context, it was proposed that cochlea neural stem cells may be protected from such aging and environmental/noise insults via the ingestion of protective dietary supplements. Of particular importance is that these studies typically display a hormetic-like biphasic dose-response pattern that prevents the occurrence of auditory cell damage induced by various model chemical toxins, such as cisplatin. Likewise, the hormetic dose-response also enhances the occurrence of cochlear neural cell viability, proliferation, and differentiation. These findings are particularly important since they confirmed a strong dose dependency of the significant beneficial effects (which is biphasic), whilst having a low-dose beneficial response, whereas extensive exposures may become ineffective and/or potentially harmful. According to hormesis, phytochemicals including polyphenols exhibit biphasic dose-response effects activating low-dose antioxidant signaling pathways, resulting in the upregulation of vitagenes, a group of genes involved in preserving cellular homeostasis during stressful conditions. Modulation of the vitagene network through polyphenols increases cellular resilience mechanisms, thus impacting neurological disorder pathophysiology. Here, we aimed to explore polyphenols targeting the NF-E2-related factor 2 (Nrf2) pathway to neuroprotective and therapeutic strategies that can potentially reduce oxidative stress and inflammation, thus preventing auditory hair cell and XIII cranial/auditory nerve cell degeneration. Furthermore, we explored techniques to enhance their bioavailability and efficacy.


Assuntos
Surdez , Neurobiologia , Humanos , Polifenóis/farmacologia , Polifenóis/uso terapêutico , Cóclea , Envelhecimento/fisiologia
4.
Clin Linguist Phon ; 35(6): 577-591, 2021 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-32794410

RESUMO

Previous research has shown that the production of third-person singular accusative object clitics (3DO clitics) might be taxing in Italian-speaking pre-school children with cochlear implants (CIs). We investigated this topic by assessing 3DO clitic production in 14 children with an average age of 8 years, who had received CI between age 1 and 4. The first goal of the study was to analyze whether school-aged children with CIs exhibit atypical behavior in 3DO clitic production. The second goal was to analyze whether children with CIs are prone to agreement errors in case of gender mismatch between the subject and the 3DO clitic, as has been shown for normal-hearing, typically developing children. To achieve this, we used two tasks in which subject and object clitic grammatical genders were manipulated so that they would or would not match. As for the first goal, the majority of children with CIs had good performance on the clitic tasks. However, some participants' performance was poor. The pattern of deviant responses differed among the poor performers. We believe that children with CIs showing impairments in 3DO clitic production need careful individual analysis in order to plan effective speech therapy. As for the second goal, children with CIs were more prone to agreement errors in the mismatch condition compared to the match condition; this dimension needs to be considered when assessing and eventually rehabilitating clitic production.


Assuntos
Implante Coclear , Implantes Cocleares , Transtornos do Desenvolvimento da Linguagem , Percepção da Fala , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Itália , Idioma , Masculino
5.
Am J Otolaryngol ; 41(4): 102455, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32475619

RESUMO

BACKGROUND: There are no reliable outcome predictors for functional dysphonia (FD) patients. OBJECTIVES: To investigate if any clinical or phoniatric characteristics could identify FD patients at risk of negative outcome after speech therapy. METHODS: We retrospectively reviewed the results of 78 FD patients treated with the proprioceptive elastic method. Before and one-month after therapy, patients underwent endoscopy, acoustic analysis with Multi-Dimensional Voice Program, and Voice Handicap Index-10 questionnaire (VHI-10). Negative outcome was the persistence of VHI-10 ≥ 13. RESULTS: 26 FD patients had negative outcome (i.e. VHI-10 ≥ 13) after speech therapy. At univariate analysis, clinical variables (i.e. sex, age, comorbidities, dysphonia duration, and professional voice use) were not associated with the outcome. Elevated Jitter% (Jitt; p = 0.03), Shimmer% (Shim; statistical trend, p = 0.06), and Noise to Harmonics Ratio (statistical trend, p = 0.06) were found in patients with poor results. At multivariate analysis, higher Jitt was an independent negative prognostic factor (p = 0.02), while a statically trend was identified for Shim (p = 0.06). A panel of Jitt >1.5 and Shim >5.1 showed an acceptable discriminatory power (AUC [ROC] = 0.76) according to Hosmer and Lemeshow scale. CONCLUSION: A panel of two acoustic analysis parameters could help in identifying FD patients at risk of speech therapy failure. Further studies in these patients are needed to evaluate the most efficient treatment protocol.


Assuntos
Disfonia/diagnóstico , Disfonia/reabilitação , Fonação , Acústica da Fala , Medida da Produção da Fala/métodos , Fonoterapia/métodos , Falha de Tratamento , Qualidade da Voz , Voz , Adulto , Disfonia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Risco
6.
Pediatr Radiol ; 48(5): 715-721, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29442153

RESUMO

BACKGROUND: In a neonatal intensive care unit (NICU), preterm infants are often exposed to a large number of radiographic examinations, which could cause adjacent neonates, family caregivers and staff members to be exposed to a dose amount due to scatter radiation. OBJECTIVE: To provide information on scatter radiation exposure levels in a NICU, to compare these values with the effective dose limits established by the European Union and to evaluate the effectiveness of radiation protection devices in this setting. MATERIALS AND METHODS: Radiation exposure levels due to scatter radiation were estimated by passive detectors (thermoluminescent dosimeters) and direct dosimetric measurements (with a dose rate meter); in the latter case, an angular map of the scatter dose distribution was achieved. RESULTS: The dose due to scatter radiation to staff in our setting is approximately 160 µSv/year, which is markedly lower than the effective dose limit for workers established by the European Union (20 mSv/year). The doses range between 0.012 and 0.095 µSv/radiograph. Considering a mean hospitalization period of 3 months and our NICU workload, the corresponding scatter radiation dose to an adjacent patient and/or his/her caregiver is at most 40 µSv. CONCLUSION: For distances greater than 1 m from the irradiation field, both scatter dose absorbed by a staff member during a year and that by an adjacent patient and/or his/her caregiver during hospitalization is less than 1 mSv, which is the exposure limit for public members in a year.


Assuntos
Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Exposição Ocupacional/análise , Exposição à Radiação/análise , Espalhamento de Radiação , Feminino , Arquitetura Hospitalar , Humanos , Recém-Nascido , Masculino , Imagens de Fantasmas , Estudos Prospectivos , Proteção Radiológica/métodos , Dosimetria Termoluminescente
7.
Neurosurg Focus ; 42(5): E7, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28463617

RESUMO

OBJECTIVE During the last 3 decades, robotic technology has rapidly spread across several surgical fields due to the continuous evolution of its versatility, stability, dexterity, and haptic properties. Neurosurgery pioneered the development of robotics, with the aim of improving the quality of several procedures requiring a high degree of accuracy and safety. Moreover, robot-guided approaches are of special interest in pediatric patients, who often have altered anatomy and challenging relationships between the diseased and eloquent structures. Nevertheless, the use of robots has been rarely reported in children. In this work, the authors describe their experience using the ROSA device (Robotized Stereotactic Assistant) in the neurosurgical management of a pediatric population. METHODS Between 2011 and 2016, 116 children underwent ROSA-assisted procedures for a variety of diseases (epilepsy, brain tumors, intra- or extraventricular and tumor cysts, obstructive hydrocephalus, and movement and behavioral disorders). Each patient received accurate preoperative planning of optimal trajectories, intraoperative frameless registration, surgical treatment using specific instruments held by the robotic arm, and postoperative CT or MR imaging. RESULTS The authors performed 128 consecutive surgeries, including implantation of 386 electrodes for stereo-electroencephalography (36 procedures), neuroendoscopy (42 procedures), stereotactic biopsy (26 procedures), pallidotomy (12 procedures), shunt placement (6 procedures), deep brain stimulation procedures (3 procedures), and stereotactic cyst aspiration (3 procedures). For each procedure, the authors analyzed and discussed accuracy, timing, and complications. CONCLUSIONS To the best their knowledge, the authors present the largest reported series of pediatric neurosurgical cases assisted by robotic support. The ROSA system provided improved safety and feasibility of minimally invasive approaches, thus optimizing the surgical result, while minimizing postoperative morbidity.


Assuntos
Neurocirurgia/instrumentação , Procedimentos Neurocirúrgicos , Robótica , Adolescente , Neoplasias Encefálicas/cirurgia , Criança , Pré-Escolar , Estimulação Encefálica Profunda/instrumentação , Estimulação Encefálica Profunda/métodos , Epilepsia/cirurgia , Feminino , Humanos , Imageamento Tridimensional/métodos , Masculino , Neuronavegação/métodos , Procedimentos Neurocirúrgicos/instrumentação , Procedimentos Neurocirúrgicos/métodos , Técnicas Estereotáxicas/instrumentação
8.
Radiol Med ; 122(3): 215-220, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27888430

RESUMO

Since 2000, a series of scientific articles on CT have been raising increasing concern about the risk of radiation induced cancer in children. The alarming conclusions of some of these articles had international echo through global media, provoking widespread public concern. Actually, many of these alarming scientific publications appeared to be flawed by poor study design, but their conclusions were not openly contradicted. In US and Europe pediatric radiologists had to face a huge challenge, which brought to the Image Gently campaign and the Eurosafe initiative with the aim to rebut misinformation and to support medical radiation protection. The Linear No Threshold model-which is the base of contemporary radioprotection-is increasingly questioned by new recent studies suggesting that low dose radiation would decrease cancer risk thanks to the enhancement of immune system response. Actually, pediatric radiologists have to cope with many important issues and contradictory messages. Good medical practice includes good communication about the benefits and risks of health procedures, thus the communication of radiation risk is a key component for radiologists. When considering benefits and risks, an important risk is too often ignored: the risk that skipping a diagnostic exam may cause a misdiagnosis, and therefore, a poor outcome. We should emphasize that a risk from a radiological investigation is very small, if a risk at all, and we are not sure that there is a risk at very low doses, like those doses in the majority of X-ray procedures including CT.


Assuntos
Diagnóstico por Imagem/efeitos adversos , Meios de Comunicação de Massa , Neoplasias Induzidas por Radiação , Exposição à Radiação/efeitos adversos , Proteção Radiológica , Tomografia Computadorizada por Raios X/efeitos adversos , Criança , Comunicação , Diagnóstico por Imagem/métodos , Feminino , Humanos , Masculino , Doses de Radiação
9.
Eur Arch Otorhinolaryngol ; 273(7): 1723-9, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26253427

RESUMO

The aim of this study is to investigate the contribute of the endoscopic exclusive transcanalar approach for the management of stapes malformations. A retrospective chart review was made at our tertiary referral centers. 17 patients with stapes malformations underwent surgery with endoscopic exclusive transcanal approach. A complete audiological and radiological assessment before and after surgery was performed. 12/17 (70 %) underwent a surgical endoscopic correction, In case of fixed platina underwent five endoscopic stapedotomy and one endoscopic stapedectomy were performed. In case of mobile platina five endoscopic ossiculoplasties with partial ossiculoplasty replacement prosthesis were performed, 3 with autologous remodeling incus and 2 with malleus head remodeling. In 1 case, only an endoscopic stapes mobilization was made. In 5/17 (30 %), due to difficult anatomical findings an endoscopic explorative tympanotomy was finally performed. The mean preoperative air conduction (AC), bone conduction (BC) and air-bone gap (ABG) were, respectively, 60.7, 26.3 and 34.4 dB. The mean postoperative AC, BC and ABG were, respectively, 33.8, 26.5 and 7.3 dB, with a mean improvement of the ABG of 27.1 dB. Discharge from hospital was on the first post-surgery day. No relevant postoperative complications were noted. The median follow-up was 3.6 years (range 1-6). The endoscopic approach results very adequate for the diagnosis and treatment of stapes malformations, checking variations of the ossicles conformation and functioning and performing safe surgery, under direct control of middle ear structures.


Assuntos
Endoscopia , Perda Auditiva Condutiva/cirurgia , Cirurgia do Estribo , Estribo/anormalidades , Adolescente , Adulto , Idoso , Criança , Feminino , Audição , Perda Auditiva Condutiva/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Ventilação da Orelha Média , Estudos Retrospectivos , Resultado do Tratamento , Timpanoplastia , Adulto Jovem
10.
Clin Linguist Phon ; 30(9): 663-78, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27285056

RESUMO

Third-person direct object (DO) clitic pronoun production is examined through an elicited production method in pre-school- and primary school-aged groups of Italian children with specific language impairment (SLI) to establish whether there is an improvement from age 5 years to age 7 years and whether there are qualitative differences in the two groups' responses. It was found that 5- and 7-year-old Italian children with SLI produce fewer third-person DO clitics than same-age peers. The kind of responses they provide changes: at 5 years, children with SLI tend to omit clitics, while at 7 years, they use a full noun. Production of third-person DO clitics is a persistent challenge for children with SLI and is confirmed to be a good clinical marker both at 5 and 7 years of age.


Assuntos
Transtornos do Desenvolvimento da Linguagem/diagnóstico , Idioma , Fonética , Semântica , Criança , Pré-Escolar , Feminino , Humanos , Itália , Testes de Linguagem , Linguística , Masculino , Instituições Acadêmicas
11.
MAGMA ; 28(3): 291-303, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25304063

RESUMO

OBJECT: The gradient fields generated during magnetic resonance imaging (MRI) procedures have the potential to induce electrical current on implanted endocardial leads. Whether this current can result in undesired cardiac stimulation is unknown. MATERIALS AND METHODS: This paper provides a detailed description of how to construct an optically coupled sensor for the measurement of gradient-field-induced currents into endocardial leads. The system is based on a microcontroller that works as analog-to-digital converter and sends the current signal acquired from the lead to an optical high-speed, light-emitting diode transmitter. A plastic fiber guides the light outside the MRI chamber to a photodiode receiver and then to an acquisition board connected to a PC laptop. RESULTS: The performance of the system has been characterized in terms of power consumption (8 mA on average), sampling frequency (20.5 kHz), measurement range (-12.8 to 10.3 mA) and resolution (22.6 µA). Results inside a 3 T MRI scanner are also presented. CONCLUSIONS: The detailed description of the current sensor could permit more standardized study of MRI gradient current induction in pacemaker systems. Results show the potential of gradient currents to affect the pacemaker capability of triggering a heartbeat, by modifying the overall energy delivered by the stimulator.


Assuntos
Eletrodos Implantados , Campos Eletromagnéticos , Endocárdio/cirurgia , Imageamento por Ressonância Magnética/instrumentação , Dispositivos Ópticos , Transdutores , Desenho de Equipamento , Análise de Falha de Equipamento , Humanos , Marca-Passo Artificial , Radiometria/instrumentação , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
12.
Eur Arch Otorhinolaryngol ; 272(10): 2643-52, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25085636

RESUMO

The aim of present study is to describe the use of the endoscopic assisted cochlear implant approach in cases with severely malformed temporal bones and with anomalous anatomy of the inner ear and tympanic cavity. Eight patients with malformed middle and inner ear and bilateral profound hearing loss were operated using an endoscopic assisted cochlear implant procedure at our tertiary university referral center between January and September 2013. Five patients received a cochlear implant using a suprameatal endoscopic assisted approach. A chart review of clinical data and videos from the operations was performed. All procedures were re-analyzed and codified. In all patients, discharge from hospital was on the third day post-surgery. No immediate or late postoperative complications were noted. The current mean follow-up is 6 months, with range between 4 and 12 months. This approach proved to be successful in cochlear implant placement. It guaranteed a very good control on the facial nerve, even in cases with difficult anatomical conditions, mainly thanks to the endoscopic procedure. It also permitted an appropriate anatomical orientation of the abnormal middle ear with a direct safe cochleostomy, when the round window position would have been difficult to treat using a traditional approach.


Assuntos
Implantes Cocleares , Orelha Interna/anormalidades , Endoscopia/métodos , Perda Auditiva Bilateral/cirurgia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Orelha Interna/cirurgia , Feminino , Perda Auditiva Bilateral/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Osso Temporal/cirurgia , Adulto Jovem
13.
Psychosomatics ; 55(3): 280-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23756120

RESUMO

BACKGROUND: Comorbidity between vestibular and psychiatric disorders in predisposed individuals is underestimated, untreated, and may result in chronicization and poor quality of life. There are few studies concerning the type and the prevalence of psychiatric-psychosomatic distress in patients with benign paroxysmal positional vertigo (BPPV). OBJECTIVE: The aim of this study was to evaluate psychiatric-psychosomatic comorbidities, in particular anxiety, depression, somatization symptoms, and alexithymia, in a group of BPPV patients compared with healthy subjects, and according to gender. METHODS: Case-control study comparing 92 BPPV patients recruited at the ENT Unit of Modena General Hospital between November 2007 and December 2010, and 141 healthy controls. The Beck Depression Inventory (BDI), State-Trait Anxiety Inventory (STAI), Diagnostic Criteria for Psychosomatic Research (DCPR), Brief Symptom Inventory (BSI), and Toronto Alexithymia Scale (TAS-20) were used to perform psychometric assessment. RESULTS: BPPV patients scored higher than controls, with statistical significance, at BDI, BSI somatization, anxiety, and phobic anxiety subscales, and STAI state anxiety; a larger proportion of BPPV patients suffered from clinically significant BDI depressive symptomatology; DCPR disease phobia, functional somatic symptoms secondary to a psychiatric disorder, and demoralization were more common among BPPV subjects. High levels of symptomatology were still found among BPPV female patients, but not among males, even after controlling for symptom severity. CONCLUSIONS: Affective symptomatology, such as depression, demoralization, phobia and anxiety, and somatization, were significantly prevalent in BPPV patients, and female gender may be a predisposing factor.


Assuntos
Sintomas Afetivos/epidemiologia , Vertigem Posicional Paroxística Benigna/epidemiologia , Depressão/epidemiologia , Transtornos Fóbicos/epidemiologia , Transtornos Psicofisiológicos/epidemiologia , Fatores Sexuais , Transtornos Somatoformes/epidemiologia , Adulto , Idoso , Estudos de Casos e Controles , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
14.
Eur Arch Otorhinolaryngol ; 271(5): 959-66, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-23595616

RESUMO

The objective was to asses the feasibility of the endoscopic technique for cochlear implant (CI) positioning avoiding mastoidectomy and to discuss the benefits and drawbacks of the technique. The study design is a surgical procedure description and prospective case series report. From December 2011 to October 2012, six patients underwent endoscopic CI. All cases were selected based on CT and MRI studies. All surgical steps were analyzed; intra-and post-operative complications were noted. The length of time for each surgical procedure was recorded. The surgical procedure was described step by step focusing on the anatomy of the round window (RW) niche, analyzing the critical point during the dissection. The timing of the surgical procedures was 120 ± 21 (mean ± SD) min. In 1/6 patients, intra-operative injury of the chorda tympani occurred. In all cases, an endoscopic identification was performed and the anatomical details of the RW niche were noted. In 6/6 cases, a RW niche magnification was performed endoscopically. 5/6 cases showed a normal conformation of the RW. In 1/6 patients, obliteration of the RW niche was found. In 4/6 patients, an endoscopic cochleostomy through the RW was performed. In 1/6 patients, a difficult insertion of the array was observed. The current follow-up is 7.3 months (SD ± 3.7). No post-operative short- or long-term complications were noted in this series. Endoscopic CI is a safe and viable technique with a low rate of complications and with good outcomes.


Assuntos
Implante Coclear/métodos , Otoscopia/métodos , Adulto , Idoso , Cóclea/cirurgia , Implantes Cocleares , Meato Acústico Externo/cirurgia , Orelha Média/cirurgia , Eletrodos Implantados , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Processo Mastoide/cirurgia , Microcirurgia/métodos , Pessoa de Meia-Idade , Desenho de Prótese , Rampa do Tímpano/cirurgia , Tomografia Computadorizada por Raios X
15.
Children (Basel) ; 11(2)2024 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-38397306

RESUMO

GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants. The aim of this study was to investigate the clinical and audiological features of a cohort of subjects with different GJB2/GJB6 gene mutation profiles from a tertiary referral center in Northeastern Italy. We considered 57 patients with GJB2/GJB6 mutations presenting with congenital, non-syndromic SNHL, mainly coming from the Veneto region (Italy). The samples were screened for mutations in exons 1 and 2 of the GJB2 gene and for the GJB6 gene deletion del (GJB6-D13S1830). Free-field and air-conduction frequency-specific thresholds and the pure-tone average (PTA) were considered in the statistical analysis. Five patients (8.87%) had connexin gene mutations in simple heterozygosis, 15 (26.31%) in compound heterozygosis, 34 (59.64%) in homozygosis, and 3 (5.26%) with digenic patterns. The frequency-specific air-conduction thresholds showed significantly different mean values across the different genotypes (Roy's largest-root test, p = 0.0473). Despite the evidence already available on genetic SNHL, many new insights are to be expected. Further large-scale prospective studies including different populations are necessary to confirm these preliminary findings about the clinical and audiological features of patients with different GJB2/GJB6 gene mutation patterns.

16.
Neurogenetics ; 14(1): 77-83, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23274687

RESUMO

GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migration caused by mutations of GPR56. To better delineate the clinical, molecular, and neuroradiological phenotypes associated with BFPP, we performed conventional magnetic resonance imaging and diffusion tensor imaging studies in a series of prospectively enrolled patients carrying novel GPR56 mutations. All subjects with GPR56-related BFPP showed a characteristic morphological pattern, including abnormalities of the cerebellar cortex with cerebellar cysts located at the periphery, a mildly thick corpus callosum, and a flat pons. Significant alterations of myelination and white matter tract abnormalities were documented. The present study confirms the phenotypic overlap between GPR56-related brain dysgenesis and other cobblestone-like syndromes and illustrates the contribution of 3D neuroimaging in the characterization of malformations of cortical development.


Assuntos
Encéfalo/diagnóstico por imagem , Lissencefalia Cobblestone/diagnóstico por imagem , Lissencefalia Cobblestone/genética , Mutação , Receptores Acoplados a Proteínas G/genética , Sequência de Bases , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Imagem de Tensor de Difusão , Feminino , Estudos de Associação Genética , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mutação/fisiologia , Fenótipo , Radiografia
17.
J Headache Pain ; 14: 69, 2013 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-23937666

RESUMO

BACKGROUND: Recently, an increasing number of articles have appeared on central auditory processing disorders, but in the literature there is only one study that evaluated the possible correlation between migraine in the critical phase and central auditory processing. The aim of our study was to assess the correlation between auditory processing information and childhood primary headaches in the intercritical phase. METHODS: This is an observational study. We enrolled 54 patients, 30 with primary headache (migraine and tension headache) and 24 normal controls, matched for sex and age. The mean age at first observation was 9 years 10 months; the duration of observational follow-up was 2 years. Both groups had normal audiological and neurological profiles, normal peripheral hearing acuity and normal cognitive and behavioral skills. We excluded patients who had undergone pharmacological prophylactic treatment for headaches in the 6 months preceding the study and subjects with a frequency of headache lower than one every two months. After enrolment, both groups were analyzed with a computerized test battery for Speech Perception Tests in silence and in noise background to assess speech perception disabilities. In addition, with a test battery of Speech Perception Tests, we compared patients with migraines and tension-type headaches. The non-parametric χ2 test, the Mann-Whitney U-test and the Wilcoxon signed ranks test were used for statistical analysis. P-values <0.05 were considered significant and STATA 10 software was used for statistical analyses. RESULTS: Our results showed that patients with primary headache (migraine and tension-type headache), had a deficit of auditory processing in noisy background compared to control cases, but we found no significant differences when we compared patients with migraine and tension-type headache. CONCLUSIONS: This is a work in progress and further studies are needed to assess the relationship between the impairment of auditory processing and primary headache, not only to improve the diagnostic approach to primary headache, but also to improve therapeutic intervention.


Assuntos
Percepção Auditiva/fisiologia , Transtornos de Enxaqueca/fisiopatologia , Percepção da Fala/fisiologia , Cefaleia do Tipo Tensional/fisiopatologia , Audiometria , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino
18.
Children (Basel) ; 10(10)2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37892316

RESUMO

This study examines the last 10 years of medical literature on the benefits of cochlear implantation in children who are deaf or hard of hearing (DHH) with additional disabilities. The most recent literature concerning cochlear implants (CIs) in DHH children with additional disabilities was systematically explored through PubMed, Embase, Scopus, PsycINFO, and Web of Science from January 2012 to July 2023. Our two-stage search strategy selected a total of 61 articles concerning CI implantation in children with several forms of additional disabilities: autism spectrum disorder, cerebral palsy, visual impairment, motor disorders, developmental delay, genetic syndromes, and intellectual disability. Overall, many children with additional disabilities benefit from CIs by acquiring greater environmental sound awareness. This, in turn, improves non-verbal communication and adaptive skills, with greater possibilities to relate to others and to be connected with the environment. Instead, despite some improvement, expressive language tends to develop more slowly and to a lesser extent compared to children affected by hearing loss only. Further studies are needed to better appreciate the specificities of each single disability and to personalize interventions, not restricting the analysis to auditory and language skills, but rather applying or developing cross-culturally validated instruments able to reliably assess the developmental trajectory and the quality of life of DHH children with additional disabilities before and after CI.

19.
Ear Nose Throat J ; 102(2): NP60-NP64, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33512243

RESUMO

OBJECTIVE: To investigate if alternated Epley (EP) and Semont (ST) maneuvers could be more effective than repetition of the same in benign paroxysmal positional vertigo of posterior semicircular canal (pBPPV). DESIGN: We retrospectively reviewed the outcome of pBPPV patients treated with a second maneuver for the persistence of positional nystagmus. STUDY SAMPLE: Forty-seven patients underwent 2 STs, 64 with 2 EPs, and 71 EPs followed by ST. Videonystagmography and Dizziness Handicap Inventory (DHI) questionnaire were performed. RESULTS: Absence of positional nystagmus was achieved after 2 maneuvers in 136 patients with pBPPV: 65.9% in the ST group, 70.3% in the EP group, and 84.5% in the EP-ST group. Alternated EP and ST were significantly more effective than repeated ST (P = .03), while we found no significant difference when compared with repeated EP (P = .07). At 1-month follow-up, 12 patients showed persistent positional nystagmus without difference between groups. After 1 month, the 46 patients with negative outcome had significantly higher DHI values (P = .01) than other 136 patients with pBPPV. CONCLUSIONS: Alternated EP and ST seemed more effective than repeating the same maneuver in treating pBPPV, and this should be confirmed in prospective clinical studies. Resolution of nystagmus after maneuvers was fundamental to reduce handicap deriving from dizziness as reported in DHI.


Assuntos
Vertigem Posicional Paroxística Benigna , Tontura , Humanos , Vertigem Posicional Paroxística Benigna/terapia , Tontura/etiologia , Tontura/terapia , Estudos Prospectivos , Estudos Retrospectivos , Modalidades de Fisioterapia , Canais Semicirculares , Resultado do Tratamento
20.
Acta Otorhinolaryngol Ital ; 43(4): 262-272, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37488990

RESUMO

Objective: Validate the Italian version of the Hearing Handicap Inventory for Elderly - Screening version (HHIE-S-It). Methods: After translation, psychometric properties and attributes were analysed by administering the HHIE-S-It to 167 elderly outpatients together with the Psychological General Well-Being Index (PGWBI). Results: The Cronbach's α coefficient was 0.908 for the total score, and 0.832 and 0.816 for its two subscales. Significant test-retest reliability was observed (p < 0.001). Moderate to high correlations were found between HHIE-S-It and pure tone average in the better ear (p < 0.001). The ANOVA test confirmed the significant difference in HHIE-S-It scores across groups according to the degree of hearing loss (p < 0.001). Only very low and low significant correlations were observed between HHIE-S-It and PGWBI. The criterion HHIE-S-It > 11 was observed as the best cut-off with highest sensitivity (86.4%), specificity (72.4%), positive predictive value (52.8%), negative predictive value (93.7%) and likelihood ratios (3.12 and 0.19). Conclusions: Since the HHIE-S-It presented acceptable psychometric properties, its adoption is justified for both clinical and research purposes. Acceptable diagnostic attributes allow its use as a screening tool for age-related hearing loss.


Assuntos
Surdez , Audição , Idoso , Humanos , Reprodutibilidade dos Testes , Bem-Estar Psicológico , Psicometria
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