Neuropatia uditiva: incidenza e caratteristiche cliniche in neonati a rischio

INTRODUZIONE La neuropatia uditiva (NU), entità nosografica di recente individuazione, costituisce un’importante causa di ipoacusia di grado variabile dal lieve al severo, ad insorgenza sia nella primissima infanzia che nell’età giovanile, raramente nell’anziano. È riconducibile ad alterazioni di alcune componenti della via uditiva, tra cui le cellule cocleari ciliate interne (le esterne sono caratteristicamente risparmiate), le loro sinapsi con le fibre afferenti del nervo acustico o il nervo acustico stesso. L’eziologia, fatta eccezione per le forme riconducibili a mutazioni del gene OTOF (codificante per l’otoferlina, una proteina espressa dalle cellule ciliate interne cocleari), è stata posta in relazione con differenti fattori di rischio. In particolare, diversi studi hanno evidenziato una maggiore incidenza di NU tra i neonati ricoverati in UTIN o esposti, in epoca perinatale, a particolari condizioni quali iperbilirubinemia, anossia, patologie infettive, farmaci ~ 239 ~ ototossici. MATERIALI E METODI Dato il caratteristico profilo audiologico la diagnosi necessita della registrazione contemporanea delle OAEs (presenti in quanto integre le cellule ciliate esterne) e delle risposte ABR che risultano alterate, desincronizzate o addirittura irriconoscibili. Si rileva anche l’assenza del riflesso stapediale, sia ipsi che controlateralmente. RISULTATI Il nostro studio ha rilevato, in un campione di 110 bambini ricoverati in UTIN per un periodo > 5 giorni, 15 soggetti con deficit uditivo, tra i quali sono stati individuati 4 casi (26,6%) con profilo audiologico compatibile con diagnosi di NU.Gli autori descrivono le caratteristiche audiologiche ed eziologiche legate a suddetti pazienti paragonando l’incidenza della neuropatia uditiva in UTIN, il grado della sordità, la mono-bilateralità, i fattori di rischio e l’iter riabilitativo più idoneo con i dati riportati in letteratura. CONCLUSIONI La neuropatia uditiva, essendo causa di ipoacusia, può compromettere lo sviluppo del linguaggio e necessita di una diagnosi tempestiva per poter adottare le opportune misure riabilitative. In considerazione della necessità di esecuzione contemporanea di OAEs e dell’ABR ai fini di una corretta diagnosi, oltre che dei costi associati a quest’ultima metodica si raccomanda la valutazione dei potenziali evocati uditivi nei neonati ricoverati in UTIN e nei soggetti esposti a fattori di rischio più frequentemente associati a NU

Epidemiologia, aspetti genetici e clinici nei neonati con familiarità per ipoacusia: esperienza di un centro di terzo livello

INTRODUZIONE Rilievo frequente nei soggetti affetti da ipoacusia neurosensoriale (SNHL) è un' anamnesi familiare positiva per sordità, correlata a mutazioni genetiche, non sempre facilmente individuate, responsabili del deficit uditivo. L'eziologia genetica costituisce complessivamente il 50-60% di tutte le cause di sordità. Si distinguono forme sindromiche e non sindromiche, queste ultime classificabili secondo le differenti modalità di trasmissione. Nel 50-80% dei casi è riscontrabile una mutazione interessante il gene della connessina 26 (GJB2) localizzato sul cromosoma 13 che oramai è noto, codifica per una proteina chiamata in causa nei processi di trasduzione dello stimolo sonoro. La medesima funzione appare essere svolta dalla connessina 30 (GJB6), e dalla connessina 31 (GJB3). Nei soggetti con ipoacusia di origine genetica si osserva un'ampia variabilit¨¤ nel profilo audiologico e nel decorso clinico in relazione ai geni coinvolti e al tipo di mutazione. Infatti è riscontrabile una perdita uditiva di grado variabile dal moderato al profondo, presente già alla nascita o insorta in epoche successive, a progressione clinica variabile. MATERIALI E METODI Il ruolo di primo piano che rivestono i fattori genetici nello sviluppo di ipoacusia si evince dai risultati relativi alla nostra casistica, costituita da 412 bambini (con età al momento della diagnosi compresa tra 1 e 6 mesi) esposti a fattori di rischio per SNHL in epoca prenatale e perinatale. RISULTATI In 41 casi (9,95% della popolazione in esame) è stata identificata una storia familiare di ipoacusia e tra questi, in 15 soggetti (36,7%) è stata evidenziata una perdita uditiva. L'analisi statistica ha rilevato una differenza significativa tra i soggetti esposti e non esposti a tale fattore (x2=28,56 e p<0,0001) confermando quanto già descrtitto in letteratura ossia che la una storia familiare di ipoacusia costituisce di per se un fattore di rischio indipendente per sordità. La perdita uditiva è risultata essere nel 100% dei casi di tipo neurosensoriale ed a sede cocleare, prevalentemente di grado profondo (con un valore medio di 100,69¡À16.46 dB HL), interessante entrambi gli orecchi (93.33%). Tutti i soggetti identificati come sordi sono stati sottoposti ad indagine genetica ed in alcuni casi è stato possibile, risalire alle mutazioni responsabili di tale quadro patologico (prevalentemente a carico del gene GJB2). CONCLUSIONI Considerata l'elevata incidenza, il ruolo che svolge tra i fattori di rischio nel determinismo della sordità, la frequente gravità del deficit uditivo ad essa associato, la familiarità necessita di una particolare attenzione mediante un'accurata anamnesi e un counselling genetico finalizzato a riconoscere precocemente tale condizione e l'eventuale ipoacusia ad essa associata. Ciò consente,soprattutto nelle forme ad insorgenza preverbale, l'attuazione di quei presidi riabilitativi e quindi un corretto sviluppo linguistico, cognitivo e, in definitiva, sociale del bambino

Piloted Simulation of Various Synthetic Vision Systems Terrain Portrayal and Guidance Symbology Concepts for Low Altitude En-Route Scenario

In support of the NASA Aviation Safety Program's Synthetic Vision Systems Project, a series of piloted simulations were conducted to explore and quantify the relationship between candidate Terrain Portrayal Concepts and Guidance Symbology Concepts, specific to General Aviation. The experiment scenario was based on a low altitude en route flight in Instrument Metrological Conditions in the central mountains of Alaska. A total of 18 general aviation pilots, with three levels of pilot experience, evaluated a test matrix of four terrain portrayal concepts and six guidance symbology concepts. Quantitative measures included various pilot/aircraft performance data, flight technical errors and flight control inputs. The qualitative measures included pilot comments and pilot responses to the structured questionnaires such as perceived workload, subjective situation awareness, pilot preferences, and the rare event recognition. There were statistically significant effects found from guidance symbology concepts and terrain portrayal concepts but no significant interactions between them. Lower flight technical errors and increased situation awareness were achieved using Synthetic Vision Systems displays, as compared to the baseline Pitch/Roll Flight Director and Blue Sky Brown Ground combination. Overall, those guidance symbology concepts that have both path based guidance cue and tunnel display performed better than the other guidance concepts

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

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 following risk factors were studied: family history of SNHL, consanguinity, low birth weight, prematurity, cranio-facial abnormality and syndromes associated to SNHL, respiratory distress, intensive care in excess of 5 days (NICU), pregnant maternal diseases, perinatal sepsis or meningitis, hyperbilirubinemia, ototoxic drugs administration. Results: Forty-seven infants (11.41%) were diagnosed with SNHL; median corrected age at final audiological diagnosis was 12 weeks. SNHL resulted moderate in 44.68%, severe in 10.64% and profound in 21 cases with a significant difference in family history and NICU infants (p < 0.0001). As the number of coexisting risk factors increases, the percentage value of SNHL in infants (χ 2 = 12.31, p = 0.01, r 2 = 0.98) and the degree of hearing loss (χ 2 = 13.40, p = 0.0095, r = 0.92) also increase. The study of single TEOAE and combined TEOAE/ABR showed a statistical difference (χ 2 = 14.89, p < 0.001) with a low concordance value (κ = 0.87) confirming the importance of combined techniques for NICU group (κ = 0.86) where four cases (0.97%) of auditory neuropathy were diagnosed. Conclusion: This study demonstrates the necessity to implement a neonatal hearing screening program in Western Sicily because of the high percentage of SNHL in infants at risk. Family history of HL is an independent significant risk factor for SNHL easily diagnosed through single TEOAE technique. Combined TEOAE/ABR is the gold standard for NICU babies which are at risk for auditory neuropathy. Coexisting risk factors are an additional risk factor for HL

Comparison of dual-mobility cup and unipolar cup for prevention of dislocation after revision total hip arthroplasty.

Background and purpose Revision total hip arthroplasty (THA) is associated with higher dislocation rates than primary THA. We compared the risk of dislocation within 6 months and all-cause re-revision during the whole study period using either the dual-mobility cup or the unipolar cup. Methods We used a prospective hospital registry-based cohort including all total and cup-only revision THAs performed between 2003 and 2013. The cups used were either dual-mobility or unipolar; the choice was made according to the preference of the surgeon. 316 revision THAs were included. The mean age of the cohort was 69 (25–98) years and 160 THAs (51%) were performed in women. The dual-mobility group (group 1) included 150 THAs (48%) and the mean length of follow-up was 31 (0–128) months. The unipolar group (group 2) included 166 THAs (53%) and the mean length of follow-up was 52 (0–136) months. Results The incidence of dislocation within 6 months was significantly lower with the dual-mobility cup than with the unipolar cup (2.7% vs. 7.8%). The unadjusted risk ratio (RR) was 0.34 (95% CI: 0.11–1.02) and the adjusted RR was 0.28 (95% CI: 0.09–0.87). The number of patients needed to treat with a dualmobility cup in order to prevent 1 case of dislocation was 19. The unadjusted incidence rate ratio for all-cause re-revision in the dual-mobility group compared to the unipolar group was 0.6 (95% CI: 0.3–1.4). Interpretation Use of a dual-mobility rather than a unipolar cup in revision THA reduced the risk of dislocation within 6 months.</p

Symbology Development for General Aviation Synthetic Vision Primary Flight Displays for the Approach and Missed-Approach Modes of Flight

Spatial disorientation induced by inadvertent flight into instrument meteorological conditions (IMC) continues to be a leading cause of fatal accidents in general aviation. The Synthetic Vision Systems General Aviation (SVS-GA) research element, an integral part of NASA s Aviation Safety and Security Program (AvSSP), is investigating a revolutionary display technology designed to mitigate low visibility events such as controlled flight into terrain (CFIT) and low-visibility loss of control (LVLoC). The integrated SVS Primary Flight Display (SVS-PFD) utilizes computer generated 3-dimensional imagery of the surrounding terrain augmented with flight path guidance symbology. This unique combination will provide GA pilots with an accurate representation of their environment and projection of their flight path, regardless of time of day or out-the-window (OTW) visibility. The initial Symbology Development for Head-Down Displays (SD-HDD) simulation experiment examined 16 display configurations on a centrally located high-resolution PFD installed in NASA s General Aviation Work Station (GAWS) flight simulator. The results of the experiment indicate that situation awareness (SA) can be enhanced without having a negative impact on flight technical error (FTE), by providing a general aviation pilot with an integrated SVS display to use when OTW visibility is obscured

Role of human epididymis protein 4 (HE4) as predictor of response to platinum based chemotherapy: A systematic review of literature

Objective: Although epithelial ovarian cancer (EOC) treatment has greatly improved over the last three decades, a fraction of patients (40-60%) with advanced-stage disease fail to completely respond to standard therapy, because of chemo-resistance to platinum. For this reason, new predictive and monitoring tools were studied to identify platinum resistant EOC patients, with the purpose of improving and personalizing the treatment. In this review, we aim to discuss the latest evidence reported in the literature about the use of Human Epididymis 4 (HE4) to predict platinum resistance among EOC patients. Methods: A comprehensive search of the literature was conducted using the terms “HE4 epithelial ovarian cancer” and “human epididymis protein 4 epithelial ovarian cancer” and they were combined with the terms “chemotherapy”, “platinum” and “response”. Results: The search identified twelve papers, from January 1952 to December 2019, in line with eligibility criteria for this systematic review, all of which demonstrated good performance of HE4 in predicting platinum sensitivity or resistance. Conclusions: All the available studies present limited and non-homogeneous data, therefore more studies are needed to validate and reinforce the role of HE4 in predicting the response to platinum based chemotherapy among ovarian cancer patients

with piloting an aircraft with Synthetic Vision Systems

development of a metric to describe the level of safety associate

“To get the baby out off the hook”: a prospective, longitudinal, multicenter, observational study about decision making in vacuum-assisted operative vaginal delivery

Background: Since operative vaginal delivery may be risky for women and might cause neonatal complications, the aim of this study is to assess appropriateness of the procedure. This is a prospective, longitudinal, multicenter, observational study and it was conducted in three Italian Obstetric Units (Pisa, Massa Carrara and Prato). All term pregnant women, either nulliparous and multiparous, with singleton pregnancy and a cephalic fetus, with spontaneous or induced labour, requiring vacuum-assisted delivery were enrolled. Indications to operative vaginal delivery were grouped as alterations of fetal cardiotocography (CTG) patterns, delay/arrest of second stage of labour or elective shortening of second stage of labour. A board consisting of five among authors evaluated appropriateness of the procedure. Results: Overall, 466 women undergoing operative vaginal deliveries were included. Cardiotocography, classified as ACOG category 2 or 3 was the indication for vacuum assisted delivery in 253 patients (54.29%). Among these, 66 women (26.1%) had an operative vaginal delivery which was then considered to be inappropriate, while in 114 cases (45.1%) CTG traces resulted to be unreadable. Conclusion: Decision making process, which leads clinicians to go for operative vaginal delivery, is often influenced by shortness of time and complexity of the situation. Therefore, clinicians tend to intervene performing vacuum delivery without adopting critical analysis and without adequately considering the clinical situation. Tweetable abstract: Operative vaginal delivery might be a risky procedure and should be performed only when clinically indicated and&nbsp;after adequate critical analysis