A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations

2015

The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG-non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of t…

Treatment of chronic pain associated with bruxism through Myofunctional therapy

2017

<p> </p><p><span> </span>Temporomandibular disorders such as bruxism may cause painful clinical conditions and over time lead to chronic facial pain. A combination of therapeutic strategies that are usually undertaken by dentists and gnathologists to reduce bruxism episodes and consequently pain, are myofunctional therapy, pharmacological treatment, intraoral interventions and behavioural treatments. The aim of this work was to understand if myofuntional therapy alone can be a useful therapy for the reduction of chronic facial pain. 24 patients, 9 male and 15 female, age ranging between 25 and 45, were treated with a myofunctional therapy for 9 month. Each pati…

Parietal subdural empyema as complication of acute odontogenic sinusitis: a case report

2014

Introduction: To date intracranial complication caused by tooth extractions are extremely rare. In particular parietal subdural empyema of odontogenic origin has not been described. A literature review is presented here to emphasize the extreme rarity of this clinical entity. Case presentation: An 18-year-old Caucasian man with a history of dental extraction developed dysarthria, lethargy, purulent rhinorrhea, and fever. A computed tomography scan demonstrated extensive sinusitis involving maxillary sinus, anterior ethmoid and frontal sinus on the left side and a subdural fluid collection in the temporal-parietal site on the same side. He underwent vancomycin, metronidazole and meropenem th…

Mastoidectomy in surgical procedures to treat retraction pockets: a single-center experience and review of the literature

2022

Abstract Purpose Retraction pocket (RP) is a common event affecting the middle ear when a negative pressure within it causes a retraction of a single part of the tympanic membrane (TM). Patients can be asymptomatic or can experience hearing loss, fullness feeling and/or ear discharge. RP can be stable or develop a cholesteatoma; aim of the study was to investigate if mastoidectomy may play a role in the surgical management of patients suffering from RP, both reporting our experience and discussing the existing literature. Methods Fifty-one patients affected by RP were referred for surgery and randomly divided into two groups. Patients of G1 group underwent tympanoplasty with mastoidectomy, …

Is there an association between age at first words and speech sound disorders among 4- to 5-year-old children? An epidemiological cross-sectional stu…

2019

To investigate the role of the period of emergence of the first words and its interactions with other risk factors in predicting the development of speech sound disorder (SSD) among 4- to 5-year-old children.After 373 children underwent otolaryngology and speech pathology examinations, their parents answered a questionnaire about potential risk factors for speech impairment. The presence of SSD was identified by a speech pathologist who administered Fanzago's Articulation Test to each child. Multivariate logistic analysis was used to explore the relationships between variables and outcomes.Mean age at first words was 17.8 ± 6.5 months of life; 25.7% of patients suffered from SSD, and 3.7% f…

Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview.

2013

The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction. We performed a global audiological assessment (through TEOAE, tympanometry and ABR) in 508 infants at risk studying the main risk factors reported by Joint Committee on Infant Hearing (2007). Fifty-one infants (10.03 %) were diagnosed with SNHL (45 bilateral and 6 unilateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; family history of hearing impairment (HI) and TORCH infections indicated independent significant risk factors (P < 0.00001 and P = 0.0…

Eustachian Tube Function Assessment after Radiofrequency Turbinate Reduction in Atopic and Non-Atopic Patients.

2021

(1) Background: Inferior turbinates&rsquo

Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family

2013

The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…

Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

2014

Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c…

Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective anal…

2017

Introdução: A atresia de coanas é uma malformação congênita rara da cavidade nasal caracterizada pela obliteração completa da coana posterior. Nos 67% dos casos a atresia coanal é unilateral, acometendo principalmente (71%) a cavidade nasal direita. Diferentemente da forma unilateral, a atresia coanal bilateral é uma condição com risco de vida, frequentemente associada a angústia respiratória com alimentação e cianose intermitente exacerbada pelo choro. O tratamento cirúrgico permanece como a única opção terapêutica. Objetivo: Relatar a nossa experiência no uso de uma abordagem endoscópica transnasal com a técnica de retalho articulado de um lado só sem colocação de stent para o tratamento …

Audiologic profile of OSAS and simple snoring patients: the effect of chronic nocturnal intermittent hypoxia on auditory function

2016

The objective of this work was to study the effect of nocturnal intermittent hypoxia on auditory function of simple snoring patients and subjects affected by OSAS; we compared the audiologic profile with the severity of OSAS to detect early signs of cochlear damage. One hundred-sixty patients underwent overnight polysomnography, micro-otoscopy, multi-frequency audiometry, acufenometry, TEOAE recording and d-ROMs test. All subjects were divided in four groups, based on presence/absence of AHI (simple snoring without OSAS, mild OSAS, moderate OSAS, severe OSAS). Sixty (37.5 %) patients were not affected by OSAS, 58 (36.25 %) presented a mild OSAS, 18 (11.25 %) a moderate OSAS and 24 (15 %) a …

Essential of audiology: screening and postscreening

2014

Newborn hearing screening is a type of screening testfor the early detection of hearing loss. It can recognizewith good accuracy newborns affected by hearingimpairment allowing an early diagnosis and interventionand avoiding cognitive and linguistic deficits [1-6].The incidence of bilateral sensorineural hearing loss(SNHL) in Sicily is 2.35 cases per 1000 newborns; thisvalue increases to 2.95 if we consider also unilateral SNHL[2,3] and to 10 cases per 1000 births among infants at risk[7-9].A correct newborn hearing screening programme isbased on different protocols depending on the presence/absence of audiologic risk factors:† Newborns without risk factors: [1-3]Initial Hearing Screening (…

Clinical observations and risk factors for tinnitus in a Sicilian cohort.

2014

The aims of this study were to determine the distribution of risk factors associated with tinnitus analysing their role in the development of tinnitus and the effects of their interaction; to evidence the importance of a suitable and adequate clinical and audiologic assessment to avoid those modifiable risk factors responsible for cochlear dysfunction and tinnitus onset. 46 subjects with tinnitus and 74 controls were studied according to: age, sex, Body Mass Index (BMI), neck circumference, tobacco smoking, feeling fatigue or headache, self reporting snoring, hypertension, diabetes, coronary heart disease, and/or hyperlipidemia, and laboratory finding as lipid profile and levels of reactive…

Audiologic profile of infants at risk: experience of a Western Sicily tertiary care centre.

2012

Objective: To identify the incidence of sensorineural hearing loss (SNHL) on infant at risk and to classify the degree and type of hearing loss describing the main causes associated in Western Sicily. To compare single TEOAE and combined TEOAE/ABR techniques studying the referral rate, the false-positive and false-negative rates through concordance test (κ coefficient), sensitivity (TPR) and specificity (TNR) for each protocol. Methods: From January 2010 to June 2011, 412 infants at risk, ranging from 4 to 20 weeks of life, transferred to Audiology Department of Palermo from the births centers of Western Sicily, underwent to audiological assessment with TEOAE, tympanometry and ABR. The foll…

The prognostic value of subjective nasal symptoms and SNOT-22 score in middle ear surgery

2022

Background: The relationship between nasal functions and middle ear surgery is still under debate. Nasal obstruction is considered as a negative prognostic factor in middle ear surgery. This is based on the theory that it may cause Eustachian tube dysfunction (ETD) by leading to reduced ventilation of the middle ear, as found in several patients with nasal septal deviation, chronic rhinitis and nasal polyps. Objectives: To assess how the subjective feeling of nasal function, evaluated by a preoperative questionnaire, may be predictive of surgical outcome and/or risk of failure in middle ear surgery. Methods: We prospectively evaluated data of patients undergoing middle ear surgery for chron…

Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience

2013

Objectives: To describe audiometric characteristics and speech perception performances of prelingually deaf Sicilian children after cochlear implantation; to identify the influence of cochlear implant (CI) user and family's characteristics on speech recognition and intelligibility outcomes. Methods: Twenty-eight infants with a congenital or acquired hearing impairment and implanted before the 3rd year of life were studied; all children suffered from bilateral sensorineural hearing loss (SNHL) with evidence of lack of hearing aids benefit and no evidence of intellectual disability. The study of the main characteristics associated with CI user and family's profile was performed with a clinica…

Risk Factors for Sensorineural Hearing Loss and Auditory Maturation in Children Admitted to Neonatal Intensive Care Units: Who Recovered?

2022

Background: Newborns admitted to neonatal intensive care units (NICUs) are at higher risk of developing sensorineural hearing loss (SNHL), which may improve over time. The aim of this study was to describe the prevalence of the main risk factors for SNHL in a NICU cohort, focusing on children who underwent auditory maturation. Methods: An observational study of 378 children admitted to NICUs, who were followed for at least 18 months, with periodic audiologic assessments. Results: Out of 378 patients, 338 had normal hearing and 40 were hearing-impaired; we found a higher percentage of extremely preterm (EPT) and extremely low-birthweight (ELBW) infants in SNHL children (p < 0.05). Sevente…

Fatores que influenciam a ocorrência de otite media entre crianças sicilianas com infecções de vias aéreas superiores

2016

ABSTRACT INTRODUCTION: Upper respiratory tract infection is a nonspecific term used to describe an acute infection involving the nose, paranasal sinuses, pharynx and larynx. Upper respiratory tract infections in children are often associated with Eustachian tube dysfunction and complicated by otitis media, an inflammatory process within the middle ear. Environmental, epidemiologic and familial risk factors for otitis media (such as sex, socioeconomic and educational factors, smoke exposure, allergy or duration of breastfeeding) have been previously reported, but actually no data about their diffusion among Sicilian children with upper respiratory tract infections are available. OBJECTIVE: T…

Prelingual sensorineural hearing loss and infants at risk: Western Sicily report.

2013

Objective: To evaluate independent etiologic factor associated with sensorineural hearing loss (SNHL) in newborn at risk; to study the role of their interaction especially in NICU infants who present often multiple risk factors for SNHL. Methods: The main risk factors for SNHL reported by JCIH 2007 were evaluated on 508 infant at risk ranging from 4 to 20 weeks of life, transferred to the Audiology Department of Palermo from the main births centers of Western Sicily. After a global audiological assessment, performed with TEOAE, tympanometry and ABR, the prevalence and the effect of risk factors was statistically studied through univariate and multivariate analysis on the total population (n…

Evolution of migraine vertigo in overlapping syndrome with ménière’s disease: Prognostic role of instrumental examination

2021

Migraine vertigo (MV) and Ménière's disease (MD) share several signs and symptoms such as tinnitus, fullness, photophobia, phonophobia, headache and vertigo spells lasting hours.The aim of the present study was to prospectively observe patients with MV with a sporadic audiological symptom evaluated with clinical examination, Vestibular Evoked Myogenic Potentials (VEMPs), ECochG and v-HIT.The finding of VEMP asymmetry, according to our cut-off of 33% of difference between sides, resulted in 20 cases, of which 6 had asymmetry of both c-VEMPs and o-VEMPS, all with development of fluctuating hearing during follow-up. ECochG was positive for endolymphatic hydrops in 12 patients.The evolution of …

Comparison of Electrocochleography and Video Head Impulse Test findings in Vestibular Migraine and Ménière Disease: A Preliminary Study

2020

OBJECTIVES: To evaluate electrophysiological findings among patients with vestibular migraine (VM) and to compare them with those of patients suffering from definite Ménière disease (MD) without migraine. MATERIALS and METHODS: Twenty-one consecutive patients suffering from VM were enrolled; all subjects were selected according to the criteria proposed by the Bàràny Society for Neuro-otology. Each patient underwent a careful otological and neurotological examination. After completing a questionnaire regarding migraine and vertigo complaints, they were assessed by audiometric testing, video head impulse test (vHIT), and elec-trocochleography (EcochG). Data were compared with those of 21 pati…

Efficacy and pharmacological appropriateness of cinnarizine and dimenhydrinate in the treatment of vertigo and related symptoms

2021

Vertigo is not itself a disease, but rather a symptom of various syndromes and disorders that jeopardize balance function, which is essential for daily activities. It is an abnormal sensation of motion that usually occurs in the absence of motion, or when a motion is sensed inaccurately. Due to the complexity of the etiopathogenesis of vertigo, many pharmacological treatments have been tested for efficacy on vertigo. Among these drugs, cinnarizine, usually given together with dimenhydrinate, appears to be the first-line pharmacotherapy for the management of vertigo and inner ear disorders. Based on these considerations, the present non-interventional study aimed to investigate the clinical …

Sudden sensorineural hearing loss: is there a relationship between routine haematological parameters and audiogram shapes?

2016

Objective: To investigate the relationship between haematological routine parameters and audiogram shapes in patients affected by sudden sensorineural hearing loss (SSNHL). Design: A retrospective study. All patients were divided into four groups according to the audiometric curve and mean values of haematological parameters (haemoglobin, white blood cell, neutrophils and lymphocytes relative count, platelet count, haematocrit, prothrombin time, activated partial thromboplastin time, fibrinogen and neutrophil-to-lymphocite ratio) of each group were statistically compared. The prognostic role of blood profile and coagulation test was also examined. Study sample: A cohort of 183 SSNHL patient…

Papel prognóstico da margem de ressecção em cirurgia oncológica aberta de laringe: análise de sobrevida de uma coorte de 139 pacientes com carcinoma …

2019

Introduction: The treatment of laryngeal squamous cell carcinoma needs accurate risk stratification, in order to choose the most suitable therapy. The prognostic significance of resection margin is still highly debated, considering the contradictory results obtained in several studies regarding the survival rate of patients with a positive resection margin. Objective: To evaluate the prognostic role of resection margin in terms of survival and risk of recurrence of primary tumour through survival analysis. Methods: Between 2007 and 2014, 139 patients affected by laryngeal squamous cell carcinoma underwent partial or total laryngectomy and were followed for mean of 59.44 ± 28.65 months. Rese…

Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective anal…

2017

Abstract Introduction: Choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae. In 67% of cases choanal atresia is unilateral, affecting mainly (71%) the right nasal cavity. In contrast to the unilateral form, bilateral choanal atresia is a life-threatening condition often associated with respiratory distress with feeding and intermittent cyanosis exacerbated by crying. Surgical treatment remains the only therapeutic option. Objective: To report our experience in the use of a transnasal endoscopic approach with stentless single side-hinged flap technique for the surgical management of choanal atresia. Methods:…

The influence of sounds in postural control

2017

Postural control is a polisensory system based on the synergism of visual, proprioceptive (kinaesthetic), auditory and labyrinthic (both otolithic and canalar) inputs. Each individual, according to age, organizes different somatosensorial strategies in order to manage postural control. Therefore the prevalence of visual, auditory, proprioceptive and labyrinthic input management varies from subject to subject during growth. It is known that during the first year of age, before the achievement of an erect posture, this latter is mainly managed according to auditory and labyrinthic stimuli, whereas once the bipodalic stance is achieved, afferent proprioceptive information from the foot and fro…

Frequenza e fenotipo delle mutazioni GJB2 in pazienti con ipoacusia neurosensoriale non-sindromica congenita: analisi di una coorte della Sicilia Occ…

Circa il 60% delle ipoacusie congenite sono associate a cause genetiche nei paesi sviluppati. La sordità genetica è classificata in sindromica (30%) e non sindromica (70%), quest’ultima riconducibile in più del 50% dei casi a mutazioni del gene GJB2. Tale gene, espresso nella coclea, codifica per la proteina gap junction “Connessina 26”, la cui funzione è cruciale per la comunicazione intercellulare. L’obiettivo del nostro lavoro è stato quello di stimare la frequenza delle mutazioni GJB2 e la loro correlazione con il fenotipo audiologico in 102 pazienti siciliani affetti da sordità neurosensoriale congenita non sindromica (NSHL) bilaterale e portatori di almeno una mutazione del gene GJB2.…

EVALUATION OF AUDITORY CORTICAL PLASTICITY FROM FIRST AMPLIFICATION TO ONE YEAR OF HEARING AID USE: THE RELATIONSHIP BETWEEN AIDED CORTICAL AUDITORY …

2021

Over the last decade, aided cortical auditory evoked potentials (ACAEPs) have continued to be a focus of interest due to the lack of adequate tools to objectively assess cortical auditory activity in response to amplified stimuli. The majority of authors have investigated the direct relationship between behavioral thresholds and ACAEPs and the evolution of ACAEP waves among children with sensorineural hearing loss (SNHL) undergoing rehabilitation. In contrast, scarce data are available regarding changes in ACAEPs over time in adult hearing aid users, particularly in relation to speech perception outcomes. The main goal of this project was to investigate the relationship between ACAEPs and s…

Sudden sensorineural hearing loss, an invisible male: State of the art

2017

Sudden sensorineural hearing loss (SSNHL), identified by Dekleyn in 1944, is a important otological disorder. It is characterized by a hearing loss greater than 30 dB over three consecutive frequencies, in less than 72 hours, with no identifiable etiology. It is a real sensorineural emergency that can become a permanent handicap if not adequately treated. SSNHL has a prevalence of 5-20 in 100,000 inhabitants. Because of patients recovering rapidly or seeking no medical attention, the true figure might be higher. Sudden hearing loss occurs typically between 50 and 60 years of age and the lowest among 20-30. The prevalence of SSNHL is not significantly different between men and women. There a…

Prognostic role of resection margin in open oncologic laryngeal surgery: survival analysis of a cohort of 139 patients affected by squamous cell carc…

2019

Abstract Introduction: The treatment of laryngeal squamous cell carcinoma needs accurate risk stratification, in order to choose the most suitable therapy. The prognostic significance of resection margin is still highly debated, considering the contradictory results obtained in several studies regarding the survival rate of patients with a positive resection margin. Objective: To evaluate the prognostic role of resection margin in terms of survival and risk of recurrence of primary tumour through survival analysis. Methods: Between 2007 and 2014, 139 patients affected by laryngeal squamous cell carcinoma underwent partial or total laryngectomy and were followed for mean of 59.44 ± 28.65 mon…

Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective anal…

2022

Abstract Introduction: Choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae. In 67% of cases choanal atresia is unilateral, affecting mainly (71%) the right nasal cavity. In contrast to the unilateral form, bilateral choanal atresia is a life-threatening condition often associated with respiratory distress with feeding and intermittent cyanosis exacerbated by crying. Surgical treatment remains the only therapeutic option. Objective: To report our experience in the use of a transnasal endoscopic approach with stentless single side-hinged flap technique for the surgical management of choanal atresia. Methods:…