THE LINKAGE BETWEEN UPPER RESPIRATORY TRACT INFECTIONS AND OTITIS MEDIA: EVIDENCE OF THE 'UNITED AIRWAYS CONCEPT'

2012

Upper respiratory tract infection (URTI) is a nonspecific term used to describe acute infections involving the nose, paranasal sinuses, pharynx and larynx and resulting from interplay between microbial load (viral and bacterial) and immune response. Infant and young children are prone to developing upper respiratory tract infections, which often result in bacterial complications especially acute otitis media because of the passage of bacteria (colonizing the nasopharynx) in the middle ear via Eustachian tube.

Uvulopalatopharyngoplasty with tonsillectomy in the treatment of severe OSAS

2009

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 p…

Copy number variations in the etiology of autism spectrum disorders

2013

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, t…

Microcephaly a clinical-genetic and neurologic approach

2013

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

2011

Objective: Head and neck involvement in Kaposi’s 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, a…

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

2015

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 r…

Newborn hearing screening in Sicily: Lesson learned

2013

Trattamento della canalolitiasi del CSP: nostra esperienza

2008

TREATMENT OF TINNITUS AND DIZZINESS ASSOCIATED VERTEBROBASILAR INSUFFICIENCY WITH A FIXED COMBINATION OF CINNARIZINE AND DIMENHYDRINATE

2012

Seventy-eight consecutive subjects, 43 males and 35 females, ranging from 43 to 87 years of age suffering from dizziness and/or tinnitus due to vertebrobasilar insufficiency without other central nervous system diseases were treated with fixed combination of cinnarizine and dimenhydrinate two times a day and for two months. Data were collected considering the following parameters: age, sex, vestibular symptoms (unsteadiness, staggering, tendency to fall, swaying, vertigo due to change of position, bowing, walking, eye movements), headache, tinnitus, impaired hearing and aural fullness. Patients evaluated their vertigo symptoms and/or tinnitus intensities using a graded 3- point visual analo…

Association between sensorineural hearing loss and sleep-disordered breathing: Literature review

2015

The cochlea is especially sensitive to circulatory alterations because it is supplied by a single terminal artery and lacks adequate collateral blood supply. To examine the putative association between Sensorineural Hearing Loss (SNHL) and Sleep Disordered Breathing (SDB) through the literature review is very interesting. In fact these medical disorders usually are associated to cerebral circulatory alterations resulting in hypoxia, acute hemodynamic change, and decreased cerebral blood flow, because the Sleep Disorder Breathing (SDB), for example OSAHS (Obstructive Sleep Apnea Hypopnea Syndrome), is characterized by periodic hyposia/reoxygenation. These noxious stimuli can, in turn, activa…

TINNITUS PATIENTS: ETIOLOGIC, AUDIOLOGIC AND PSYCHOLOGICAL PROFILE

2013

Tinnitus represents one of the most frequent symptoms observed in the general population in association with different pathologies, although often its etiology remains unclear. Objective of this work is to evidence the main aspects concerning epidemiology, causes, audiological characteristics and psychological consequences of tinnitus.

Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

2013

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated…

Malformations of central nervous system: General issues

2013

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 management

Speech intelligibility and perception after cochlear implant in deaf children with or without associated disabilities: A review

2014

The ability to make oneself understood is critical to most human interaction, and as such, the failure to develop fully intelligible speech may result in a significant handicap especially in the child in learning phase. World literature has demonstrated improved speech intelligibility and speech perception as well as a good development of communication skills in prelingual profound sensorineural hearing loss (SNHL) children after cochlear implantation. The literature considered as universally-accepted the usefulness/effectiveness of unilateral early cochlear implantation in severely-profoundly deaf children with or without associated disabilities. In fact this procedure, for children implan…

Type and counter-type from specific chromosomal regions

2013

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 mani…

ACUFENI E INSTABILITA' ASSOCIATI AD INSUFFICIENZA VERTEBROBASILARE

2013

Copy number variations in the etiology of epilepsy

2013

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 transp…