Marianna Mucia

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

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 (normal and deaf subjects). RESULTS Fifty-one infants (10.03%) were diagnosed with SNHL (45 bilateral and 6 monolateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; from logistic regression analysis family history of hearing impairment (HI) and TORCH infections resulted independent significant risk factors (P<0.00001 and P=0.024 respectively). High SNHL percentages were evidenced also in NICU babies, due to the various pathologies and risk factors presented by these infants, and among newborns who suffered from hyperbilirubinemia requiring exchange transfusion (11.97% and 9.52% respectively). Craniofacial abnormalities (CFA) and syndromes associated to HI showed an important relationship (P<0.00001) with conductive hearing loss (CHL). Multiple regression analysis of the variation in SNHL among NICU infants evidenced an increased risk for SNHL of 21.24% and of 19.33% respectively in preterm infants and in case of hyperbilirubinemia if respiratory distress is concomitant with these risk factors. It was also observed an higher risk of SNHL (99.66%) in case of coexistence of prematurity and hyperbilirubinemia. Finally among infants with very low birth weight (VLBW) it was evidenced a statistically difference between the mean weight of SNHL infants respect to NHL newborns (P=0.048). CONCLUSION The high SNHL prevalence (10.03%) in our cohort underlines how infants at risk are more susceptible to suffer from SNHL; in particular NICU newborns have a 33% greater chance of developing SNHL, because of the presence of multiple risk factors (or=1.33) and their interaction. As the number of coexisting risk factors increases, the prevalence of SNHL also increases (r(2)=0.93).

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

IntroductionTo 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 presentationAn 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.ConclusionsThe 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.

Factors influencing the development of otitis media among Sicilian children affected by upper respiratory tract infections

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.

Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

Abstract 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 PTA0.25–4 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 identified 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 PTA0.25–4 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 confirmed a variability in the phenotype associated to a single genotype.

Essential of audiology: screening and post-screening

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].