Uvulopalatopharyngoplasty with tonsillectomy in the treatment of severe OSAS

Objective: To establish the efficacy of uvulopalatopharyngoplasty with tonsillectomy for treating selected patients with severe obstructive sleep apnea syndrome Methodology: Retrospective study of patients who underwent clinical/instrumental evaluation and surgical treatment. Setting: University ENT division with a tertiary snoring referral center Participants: Twenty-two patients with normal body mass index affected by severe obstructive sleep apnea syndrome- Main outcome measures: Pre and post operative cardiopulmonary monitoring during sleep, daytime sleepiness evaluation, post treatment complication recording. Results: Complete response to therapy was obtained in 78% of patients. Four patients had relief of symptoms but retained apnea-hypopnea index scores greater than 5 Conclusions: Uvulopalatopharyngoplasty associated with tonsillectomy can be employed safely to treat patients with normal body mass index who suffer from severe obstructive sleep apne

Stapedotomia V.S. Stapedectomia: nostra esperienza

RAZIONALE La chirurgia della staffa ha visto negli ultimi anni molte innovazioni nel trattamento chirurgico dell'otosclerosi. In particolare, la stapedectomia \ue8 stata sostituita sempre pi\uf9 dalla stapedotomia prima con metodo classico e successivamente con metodica invertita, in quanto si ritiene che tali varianti chirurgiche consentano una maggiore riduzione del gap tra via ossea e via aerea per le alte frequenze, una migliore discriminazione vocale oltre che minori complicanze intra e post operatorie. Lo scopo del presente studio \ue8 stato quello di confrontare i risultati della stapedotomia con la stapedectomia nei pazienti affetti da otosclerosi e in particolare il miglior recupero uditivo e l'insorgenza di complicanze intra e post-operatorie. MATERIALI E METODI Le variabili oggetto del nostro studio sono state: il sesso, l'et\ue0, la familiarit\ue0. I pazienti sono stati sottoposti a timpanometria e a audiometria tonale pre-operatoria e post-operatoria a distanza di 2 mesi dall'intervento. Le soglie uditive per la via aerea sono state ottenute per le frequenze 250-8000 Hz, mentre le soglie uditive per la via ossea sono state ottenute per le frequenze 250-4000 Hz. La soglia media (PTA) \ue8 stata calcolata per le frequenze 0.5, 1, 2, e 4 kHz ed \ue8 stato calcolato il gap tra la soglia media della via aerea e ossea. Infine si \ue8 valutata la presenza di acufeni e vertigini post-operatorie. Il confronto tra le due tecniche chirurgiche \ue8 stato eseguito tramite test \u3c72 a un livello di significativit\ue0 P < 0.05 per ognuna di queste variabili. RISULTATI I pazienti trattati con stapedotomia dimostrano risultati in termini di valori audiometrici migliori per la frequenza 4 kHz per la via aerea ed una riduzione del gap tra la via aerea e la via ossea per la stessa frequenza (p < 0.05) . L' insorgenza di acufeni e vertigini post-operatorie \ue8 ridotta in seguito a intervento di stapedotomia, anche se i risultati ottenuti non sono statisticamente significativi, probabilmente perch\ue8 la presenza di queste due complicanze dipende anche dai materiali protesici utilizzati e dall'esperienza del chirurgo. CONCLUSIONI La stapedotomia, attualmente, sembra essere l'intervento di scelta rispetto alla stapedectomia, non solo per i migliori risultati audiometrici ottenuti per la frequenze acute ma anche per la minore incidenza di complicanze post-operatorie. Di contro la stapedectomia \ue8 un intervento imprescindibile qualora vi sia una totale compromissione della staffa o frattura della platina intraoperatoriamente

Localisation of mediterranean Kaposi's sarcoma in Morgagni's ventricle

Objective: Head and neck involvement in Kaposi\u2019s Sarcoma (KS) is not unusual . However, laryngeal involvement is a relatively infrequent manifestation and ENT specialists should consider it in differential diagnosis in laryngeal lesions of AIDS patients and/or subjects from the Mediterranean area. Methods: Case report and review of the literature in English Clinical Case: Male patient presenting with a three- month history of cough and acute dispnoea. Laryngoscopy identified a laryngeal mass occluding the glottic plane. Tracheotomy was then performed and the laryngeal lesion was removed. Histopathology showed neoplastic spindle cells that were positive to immunostain with CD-31 and CD-34, and immunoreactivity for HHV-8 was present. A diagnosis of KS was then suspected and confirmed after dermatological inspection. Conclusions: Purple vascular mass lesions should lead in ENT to a high index of suspicion to exclude systemic diseases. Laryngeal KS must be included in the differential diagnosis of pigmented laryngeal lesions to plan correct managemen

Psychopathologic disease in patients with tinnitus: a case control of an outpatient cohort

The goal of this work was to study if patients suffering from tinnitus, that affects 14.5% of Italian people, are more susceptible to psychological distress than those who are not affected by tinnitus; to evaluate the prevalence of psychopathological disorders among the cohort, their relationship with the severity of tinnitus and eventual correlation between the distress caused by tinnitus and age of patients. 191 cases and 237 controls were enrolled between 2009-2011. Cases were 80 females and 111 males with mean age of 48.06. Controls were 106 females and 131 males with mean age of 47.09. Overall subjects completed Symptom CheckList-90 R (SCL 90-R) and some brief questionnaire about audiological history while Tinnitus Handicap Inventory (THI) was compiled by cases. Our study indicates that there is a significance correlation between tinnitus and psychopathological disorders, especially with anxiety (\u3c72=8.08; p=0.004) and sleep disturbance (\u3c72=38.85; p=0.0001) and there is a slight correlation between higher THI score and lower age subjects (r=0.76). Especially causing working impairment, the highest correlation resulted for ages 25-50 (r=0.96)

Profilo familiare ed individuale come fattore predittivo delle performances verbo-acustiche pre impianto cocleare: esperienza personale

RAZIONALE L\u2019impianto cocleare \ue8 oramai il trattamento di scelta in tutti quei casi di sordit\ue0 preverbale severa/profonda permettendo di ottenere a distanza di 12 mesi una soglia uditiva amplificata integralmente all\u2019interno dello spettro acustico del parlato. Se ci\uf2 \ue8 dimostrato ampiamente dalla letteratura, \ue8 comunque vero che le aspettative familiari e le performances verbo/acustiche sono altamente variabili. Lo scopo del presente lavoro \ue8 quello di identificare tramite un accurato studio del profilo familiare ed individuale, tutte le possibili variabili in grado di influenzare i risultati. MATERIALI E METODI Le variabili oggetto del presente studio sono state suddivise in familiari ed individuali; tra le prime si \ue8 valutato: numero di familiari, titolo di studio, livello economico, attivit\ue0 lavorativa, aspettativa familiare; tra i fattori individuali: et\ue0 al momento della diagnosi di sordit\ue0, lunghezza della sordit\ue0, patologie associate, utilizzo delle protesi acustiche, terapia riabilitativa (sanitaria/privata), et\ue0 al momento dell\u2019impianto, tipo di impianto, strategia utilizzata, uso quotidiano dell\u2019impianto cocleare, stimolazione mono/bimodale. RISULTATI Le risposte ottenute dai tracciati audiometrici e dai questionari sulle capacit\ue0 percettive verbali messe in relazione con il profilo familiare ed individuale hanno evidenziato una correlazione significativa tra alto livello economico, terapia riabilitativa privata, uso quotidiano dell\u2019impianto cocleare e IT-MAIS, CAP e SIR (p>0.05). Di contro, a queste variabili familiari ed individuali sono corrisposte le aspettative familiari pre-impianto pi\uf9 elevate con il rischio pertanto di \u2018false aspettative\u2019. CONCLUSIONI Lo studio del profilo familiare e le caratteristiche individuali di un candidato all\u2019impianto cocleare possono essere uno strumento in pi\uf9 da utilizzare come fattori predittivi per non creare delle false aspettative in termini di performance uditive e di intelligibilit\ue0 nelle famiglie dei soggetti affetti da ipoacusia neurosensoriale bilaterale severa/profonda e candidati all\u2019impianto cocleare

COPY NUMBER VARIATIONS IN THE ETIOLOGY OF AUTISM SPECTRUM DISORDERS

Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, they seem to be involved in neurogenesis, neuronal migration, differentiation and degeneration. We want emphasize that the final phenotype is variable, related not only to the genetic background but also to environmental factor

TYPE AND COUNTER-TYPE FROM SPECIFIC CHROMOSOMAL REGIONS

Several studies have shown the importance of segmental deletions/duplications in the field of chromosome pathologies. Non allelic homologous recombination, NAHR, between chromosomes or sister chromatids, mediated by segmental duplications, is the foundation of frequent mechanisms for structural chromosome mutations such as micro-deletions, micro-duplications, translocations, inversions, and marker chromosomes. We analyzed three distinct genomic regions (22q11.2, 17p11.2, 16p11.2) and we discussed how the same chromosome region can be affected by deletion or by reciprocal duplication, respectively responsible for a syndrome or for a reciprocal counter-syndrome, with different phenotypic manifestation

MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES

Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome. Advances in identifying the genetic etiology underlying many CNS malformation and syndromes have led to the current genetic-based classifications that allows us to better estimate prognosis and potential complications. Herein, we discuss the main genetic, clinical and radiological features and their implications for diagnostic testing and disease managemen

COPY NUMBER VARIATIONS IN THE ETIOLOGY OF EPILEPSY

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy. In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transport. The possibility to identify new rare CNVs allow a greater understanding of the mechanisms of epilepsy and other neurodevelopmental disorders