Essential of audiology: screening and postscreening

Newborn hearing screening is a type of screening test for the early detection of hearing loss. It can recognize with good accuracy newborns affected by hearing impairment allowing an early diagnosis and intervention and avoiding cognitive and linguistic deficits [1-6]. The incidence of bilateral sensorineural hearing loss (SNHL) in Sicily is 2.35 cases per 1000 newborns; this value 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 is based on different protocols depending on the presence/ absence of audiologic risk factor

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

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

investigation of the dgat1 k232a and vntr mutations in dairy and dual purpose cattle breeds

AbstractSeveral studies have reported that the centromeric end of bovine chromosome 14 harbours QTL for milk production and composition traits. The acyl-Coenzyme A:diacylglycerol acyltransferase 1 (DGAT1) gene was indicated to be the quantitative trait gene affecting these traits with a major effect on milk fat content. A two bp mutation in exon 8 causing a nonconservative lysine to alanine amino acid substitution at codon 232 (K232A) showed a confirmed effect across breeds with allele K resulting associated with an increase on fat yield, fat percentage and protein percentage while allele A was associated with higher milk yield. Another mutation in the 5' regulatory region of this gene, a variable number of tandem repeat (VNTR) of 18 bp, was suggested to affect fat percentage. The objective of the present work was to investigate the occurrence of the DGAT1 K232A and VNTR polymorphisms in several Italian dairy and dual purpose cattle breeds as a first step to evaluate their effects on milk production trait..

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

Circa il 60% delle ipoacusie congenite sono associate a cause genetiche nei paesi sviluppati. La sordit\ue0 genetica \ue8 classificata in sindromica (30%) e non sindromica (70%), quest\u2019ultima riconducibile in pi\uf9 del 50% dei casi a mutazioni del gene GJB2. Tale gene, espresso nella coclea, codifica per la proteina gap junction \u201cConnessina 26\u201d, la cui funzione \ue8 cruciale per la comunicazione intercellulare. L\u2019obiettivo del nostro lavoro \ue8 stato quello di stimare la frequenza delle mutazioni GJB2 e la loro correlazione con il fenotipo audiologico in 102 pazienti siciliani affetti da sordit\ue0 neurosensoriale congenita non sindromica (NSHL) bilaterale e portatori di almeno una mutazione del gene GJB2. Tutti i soggetti sono stati sottoposti a test genetici (per individuare la presenza di mutazioni dei geni GJB2 e GJB6) ed esame audio-impedenzometrico. Nella coorte studiata sono stati identificati 15 mutazioni differenti e 17 genotipi. Nel 64.72% dei pazienti si \ue8 evidenziata una perdita uditiva di grado profondo (media PTA0.25-4kHz= 88.82\ub126.52 dB HL ). L\u201981.37% dei soggetti \ue8 risultato portatore di almeno un allele c.35delG; le mutazioni c.167delT e c.-23+1G>A sono state identificate nel 10.78% e nel 9.8% dei pazienti rispettivamente. Il genotipo omozigote per la mutazione c.35delG \ue8 risultato associato ad una pi\uf9 severa perdita uditiva e a valori medi di PTA0.25-4kHz pi\uf9 elevati (96.79\ub121.11 dB HL) rispetto ai genotipi c.35delG/non-c.35delG e c.35delG/Wt (P<0.05) Il nostro studio evidenzia il ruolo di c.35delG, c.167delT e c.-23+1G>A come cause principali di NSHL in Sicilia. La variabilit\ue0 del profilo audiologico associato ad un determinato genotipo \ue8 riconducibile all\u2019azione di geni e fattori ambientali in parte non ancora individuati

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

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 severe OSAS; the 57.14 % of moderate to severe OSAS suffered from tinnitus with respect to the 31.03 % of mild OSAS (P = 0.024). A higher percentage (41.66 %) of hearing loss was found among individuals with moderate to severe degree of OSAS (P < 0.0001). All groups were characterized by a mean hearing threshold <25 dB HL for 0.25–3 kHz frequencies and a progressive decrease in hearing sensitivity, particularly for 6–16 kHz frequencies (P < 0.05). The analysis of otoacoustic emissions SNR mean values evidenced a significant difference between simple snoring and severe OSAS individuals for 3 and 4 kHz frequencies (P < 0.05). d-ROM levels resulted higher in patients with severe OSAS with respect to simple snoring subjects (P = 0.004). Our data underline the key role of chronic nocturnal intermittent hypoxia in the development of an early cochlear damage and a more marked high-frequency hearing loss in case of severe OSAS (P < 0.05)

Study of the magnetic penetration depth in RbOs_2O_6

Measurements of the magnetic field penetration depth \lambda in the pyrochlore superconductor RbOs_2O_6 (T_c\simeq6.3 K) were carried out by means of the muon-spin-rotation (\muSR) technique. At low temperatures \lambda^{-2}(T) saturates and becomes constant below T\simeq 0.2T_c, in agreement with what is expected for weak-coupled s-wave BCS superconductors. The value of \lambda at T=0 was found to be in the range of 250 nm to 300 nm. \muSR and equilibrium magnetization measurements both reveal that at low temperatures $\lambda$ is almost (at the level of 10%) independent of the applied magnetic field. This result suggests that the superconducting energy gap in RbOs_2O_6 is isotropic.Comment: 8 pages, 9 figure

UPPER RESPIRATORY TRACT INFECTIONS IN CHILDREN: FROM CASE HISTORY TO MANAGEMENT

Respiratory tract infections are the most common diseases in childhood. The respiratory tract, widely branched system of ducts, is particularly exposed to the action of microorganisms transmitted by air from here the high frequency of infections they face especially in the first years of life. It is usual distinguish: upper respiratory tract infections (URTI) and lower respiratory tract infections (LRTI). In particular, in infections of the upper airways, the inflammatory process, result of the interaction between microbes and the immune response, can be localized to the mucosa of the nose or sinuses (common cold and sinusitis), or the pharynx or larynx (pharyngotonsillitis and laryngitis) and it has predominantly a viral etiology although occasionally it may be followed by bacterial complications such as otitis media. The aim of the following article is the description of these different clinical pictures, highlighting the clinical and epidemiological features and current management guidelines

Association between sleep-disordered breathing and hearing disorders: Clinical observation in Sicilian patients

Introduction: To examine the putative association between Sleep-Disordered breathing and hearing disorders Material and methods: 120 Sicilian subjects ranging from 14 to 85 years of age who were divided in 46 cases suffering from tinnitus (G1 group) and 74 controls (G2 group) were evaluated through STOP BANG screening questionnaire and Four-Variable Screening Tool; after Data collecting each subject underwent Audiological assessment by multi-frequency audiometry (PTA) and Transient-evoked otoacoustic emissions (TEOAE-diagnostic) for each ear. Results: Cases showed: PTA significantly severe than the control group (58.70% vs. 16.89% hearing loss; P<0.001), such as a lower signal-to-noise ratio (SNRs) (P<0.05). Moreover Tinnitus subjects had a higher risk to develop Sleep-Disordered breathing respect to controls (P<0.001). OSA risk population - subjects positive to both screening questionnaires - had tinnitus, wore hearing threshold mean values and, lower SNRs values than total cohort (P<0.01). The relative risk of Sleep-Disordered breathing and tinnitus was 4.83 (P<0.0001). Conclusions: Our results stress a probable association between tinnitus, hearing loss and Sleep-Disordered breathing even if further studies will be needed to confirm our findings

Novel Harmonization Method for Multi-Centric Radiomic Studies in Non-Small Cell Lung Cancer

The purpose of this multi-centric work was to investigate the relationship between radiomic features extracted from pre-treatment computed tomography (CT), positron emission tomography (PET) imaging, and clinical outcomes for stereotactic body radiation therapy (SBRT) in early-stage non-small cell lung cancer (NSCLC). One-hundred and seventeen patients who received SBRT for early-stage NSCLC were retrospectively identified from seven Italian centers. The tumor was identified on pre-treatment free-breathing CT and PET images, from which we extracted 3004 quantitative radiomic features. The primary outcome was 24-month progression-free-survival (PFS) based on cancer recurrence (local/non-local) following SBRT. A harmonization technique was proposed for CT features considering lesion and contralateral healthy lung tissues using the LASSO algorithm as a feature selector. Models with harmonized CT features (B models) demonstrated better performances compared to the ones using only original CT features (C models). A linear support vector machine (SVM) with harmonized CT and PET features (A1 model) showed an area under the curve (AUC) of 0.77 (0.63-0.85) for predicting the primary outcome in an external validation cohort. The addition of clinical features did not enhance the model performance. This study provided the basis for validating our novel CT data harmonization strategy, involving delta radiomics. The harmonized radiomic models demonstrated the capability to properly predict patient prognosis

Unresectable stage III non-small cell lung cancer: could durvalumab be safe and effective in real-life clinical scenarios? Results of a single-center experience

IntroductionThe standard of care for patients with unresectable stage III non-small cell lung cancer (NSCLC) is chemoradiotherapy (CRT) followed by consolidation durvalumab as shown in the PACIFIC trial. The purpose of this study is to evaluate clinical outcomes and toxicities regarding the use of durvalumab in a real clinical scenario. MethodsA single-center retrospective study was conducted on patients with a diagnosis of unresectable stage III NSCLC who underwent radical CRT followed or not by durvalumab. Tumor response after CRT, pattern of relapse, overall survival (OS) and progression-free survival (PFS), and toxicity profile were investigated. ResultsEighty-five patients met the inclusion criteria. The median age was 67 years (range 45-82 years). Fifty-two patients (61.2%) started sequential therapy with durvalumab. The main reason for excluding patients from the durvalumab treatment was the expression of PD-L1 < 1%. Only two patients presented a grade 4 or 5 pneumonitis. A median follow-up (FU) of 20 months has been reached. Forty-five patients (52.9%) had disease progression, and 21 (24.7%) had a distant progression. The addition of maintenance immunotherapy confirmed a clinical benefit in terms of OS and PFS. Two-year OS and PFS were respectively 69.4% and 54.4% in the durvalumab group and 47.9% and 24.2% in the no-durvalumab group (p = 0.015, p = 0.007). ConclusionIn this real-world study, patients treated with CRT plus durvalumab showed clinical outcomes and toxicities similar to the PACIFIC results. Maintenance immunotherapy after CRT has been shown to be safe and has increased the survival of patients in clinical practice