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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.-23 1G A were identifi ed in 10.78% and the 9.8% of patients respectively; c.35delG homozygotes presented more severe hearing impairment (75.59% of profound hearing loss) and a higher mean PTA 0.25 – 4 kHz (96.79 21.11 dB HL) with respect to c.35delG/non-c.35delG and c.35delG/Wt patients (P 0.05). Conclusions: This work underlines the role of c.35delG, c.167delT and c.-23 1G A as the most frequent causes of NSHL in Sicily. The c.35delG frequency found is similar to those reported in other populations of the Mediterranean area. The analysis of genetic and audiologic data confi rmed a variability in the phenotype associated to a single genotype.

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 (Step I):The initialscreening should be performed using Transient-Evoked Otoacoustic Emissions (TEOAEs) in the birthcenters as close to discharge as possible, preferably 12hours or more after birth. It is recommended that aninfant be referred for a re-screening (step 2) if s/hedoes not pass the initial screening or results cannot beobtained in one or both ears.Re-screening (Step II):The re-screening should beperformed in a second level center using TEOAEs andAutomated Auditory Brainstem Response (AABR). Ifan infant does not pass the re-screening or if resultscannot be obtained in one or both ears, s/he shall bereferred to the regional third level center for diagnosticaudiological evaluation.† Newborns with risk factors (JCIH 2007) [7-10]Initial Hearing Screening (Step I): The Initial Hear-ing Screening should be performed in a second levelcenter using TEOAEs and AABR. If an infant does notpass the initial screening or if results cannot beobtained in one or both ears, s/he shall be referred tothe regional third level center for diagnostic audiologi-cal evaluation.Screening variablesActually TEOAEs have a sensitivity of 100% and a specifi-city of about 70-95%. A higher TEOAEs specificity valuedepends on [1,2,11]:† Timing of TEOAEs recording† Trained and qualified personnel† PASS/REFER criteriaLimitations of screeningAudiologic screening does not identify:† Post-natal SNHL (prelingual or perilingual) ,mainly related to genetic causes [12,13]† ANSD (Auditory Neuropathy Spectrum Disorder):the main risk factors associated to ANSD are severejaundice, prematurity, respiratory distress, ototoxicdrugs (used to treat neonatal infections), genetic muta-tions (e.g. OTOF gene). The diagnosis of ANSD isusually based on the combination of absent or abnor-mal ABR with normal TEOAESs and/or cochlearmicrophonics (CM) [14].

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 therapy, and subsequently left maxillary antrostomy, and frontal and maxillary sinuses toilette by an open approach. The last clinical control done after 3 months showed a regression of all symptoms. Conclusions: The occurrence of subdural empyema is an uncommon but possible sequela of a complicated tooth extraction. A multidisciplinary approach involving otolaryngologist, neurosurgeons, clinical microbiologist, and neuroradiologist is essential. Antibiotic therapy with surgical approach is the gold standard treatment.

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: To investigate the main risk factors for otitis media and their prevalence in Sicilian children with and without upper respiratory tract infections. METHODS: A case-control study of 204 children with upper respiratory tract infections who developed otitis media during a 3 weeks monitoring period and 204 age and sex-matched healthy controls. Seventeen epidemiologically relevant features were inventoried by means of standardized questionnaires and skin tests were performed. Univariate analysis and multivariate logistic regression analysis were used to examine the association between risk factors and occurrence of otitis media. RESULTS: Otitis media resulted strongly associated to large families, low parental educational attainment, schooling within the third years of life (p < 0.05); children were more susceptible to develop otitis media in the presence of asthma, cough, laryngopharyngeal reflux disease, snoring and apnea (p < 0.05). Allergy and urban localization increased the risk of otitis media in children exposed to smoke respectively of 166% and 277% (p < 0.05); the joint effect of asthma and presence of pets in allergic population increased the risk of recurrence of 11%, while allergy, cough and runny nose together increased this risk of 74%. CONCLUSIONS: Upper respiratory tract infections and otitis media are common childhood diseases strongly associated with low parental educational attainment (p = 0.0001), exposure to smoke (p = 0.0001), indoor exposure to mold (p = 0.0001), laryngopharyngeal reflux disease (p = 0.0002) and the lack of breast-feeding (p = 0.0014); an increased risk of otitis media recurrences was observed in the presence of allergy, persistent cough and runny nose (p = 0.0001). The modification of the identified risk factors for otitis media should be recommended to realize a correct primary care intervention. RESUMO INTRODUÇÃO: A infecção de vias aéreas superiores é uma denominação inespecífica, empregada na descrição de uma infecção aguda envolvendo o nariz, os seios paranasais, a faringe e a laringe. As infecções de vias aéreas superiores em crianças estão frequentemente associadas à disfunção da trompa de Eustáquio, complicando-se com otite média, um processo inflamatório da orelha média. Já foram relatados vários fatores de risco relacionados à otite média, incluindo os ambientais, epidemiológicos e familiares (p. ex., gênero, fatores socioeconômicos e educacionais, exposição ao tabaco, alergia ou duração do aleitamento materno), entretanto, não dispomos de dados sobre sua ocorrência entre crianças sicilianas com infecções de vias aéreas superiores. OBJETIVO: Investigar os principais fatores de risco para otite média e sua prevalência em crianças sicilianas com e sem infecções de vias aéreas superiores. MÉTODO: Um estudo de caso-controle de 204 crianças com infecções de vias aéreas superiores apresentando otite média durante um período de monitoração de três semanas e 204 controles saudáveis compatíveis em idade e gênero. Foram relacionadas 17 características com relevância epidemiológica por meio da aplicação de questionários padronizados; também foram realizados testes cutâneos. Foram utilizadas análises univariada e de regressão logística multivariada no exame da associação entre fatores de risco e ocorrência de otite média. RESULTADOS: A otite média revelou forte associação com famílias numerosas, baixo nível educacional dos pais e escolaridade no terceiro ano de vida (p< 0,05); as crianças demonstraram maior suscetibilidade para ocorrência de otite média em presença de asma, tosse, doença do refluxo laringofaríngeo, ronco e apneia (p < 0,05). Alergia e localização urbana aumentaram o risco de otite média em crianças expostas ao fumo em 166% e 277% (p < 0,05), respectivamente; o efeito conjunto de asma e presença de animais de estimação na população alérgica aumentou o risco de recidiva em 11%, enquanto que, em conjunto, alergia, tosse e coriza aumentaram esse risco em 74%. CONCLUSÕES: As infecções de vias aéreas superiores e otite média são doenças pediátricas comuns, fortemente associadas a baixo nível educacional dos pais (p = 0,0001), exposição ao fumo (p = 0,0001), exposição domiciliar ao mofo (p = 0,0001), refluxo laringofaríngeo (p = 0,0002) e ausência de aleitamento materno (p = 0,0014). Também foi observado aumento do risco de recidivas de otite média em presença de alergia, tosse persistente e coriza (p = 0,0001). Deve-se recomendar a modificação dos fatores de risco identificados para otite média, para uma correta intervenção terapêutica primária.