Francesco Galletti

Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients

Glycogen storage disease type II (GSD II), also known as Pompe disease, is an autosomal recessive inherited disorder caused by a reduced activity of acid alpha glucosidase (GAA). Two different clinical entities have been described: rapidly fatal infantile and late onset forms. Hearing loss has been described in classic infantile Pompe patients but rarely in late onset cases. The main purpose of this study was to investigate the involvement of the auditory system in a cohort of Italian patients with late onset GSD II. We have enrolled 20 patients, 12 males and 8 females. The auditory system assessment included speech and pure tone audiometry, impedance audiometry and auditory brainstem responses (ABR). A combined interpretation of those tests allowed us to define the origin of the hearing impairment (sensorineural, conductive or mixed). Clinically, all patients but one denied subjective hearing disturbances. On the other hand, audiological evaluation revealed that 21/40 patient ears (52.5%) had a hearing impairment: 57% had a sensorineural deficit, 33% showed a conductive hearing loss whereas 10% presented with a mixed pattern. Our study revealed that, in this group of GSDII late onset patients, the auditory system impairment was more frequently present than thought with a prominent cochlear involvement. Our results emphasize the importance of a routinely auditory function evaluation in all forms of Pompe disease.

Vocal Outcome After CO2 Laser Cordectomy Performed on Patients Affected by Early Glottic Carcinoma

OBJECTIVE The objectives of this study were to assess the influence of the different types of laser cordectomy on vocal outcome and highlight the relationship between some perceptive, acoustic, and endoscopic evaluations. STUDY DESIGN Retrospective observational study. METHODS Thirteen patients, staged as having T1a tumor, underwent laser CO(2)cordectomy (1 patient type I and type II, 2 patients type II, 6 patients type III, and 4 patients type IV) between January and June 2010. Grade, roughness, breathiness, asthenia, and strain evaluation scale; voice handicap index-10 questionnaire; multidimensional computer analysis of voice and speech; maximum phonation time; and stroboscopic examination were performed 12 months after the surgery. Correlations between jitter% and R, shimmer% and R, noise-to-harmonic ratio (NHR) and G were studied. Patients were first divided into groups according to type of cordectomy performed and, later, according to stroboscopic findings. Wilcoxon test, Spearman index, and Kruskal-Wallis test, followed by post hoc analysis, were used. RESULTS No significant differences were found in type III and type IV cordectomy groups. Jitter% and R values showed a correlation as did shimmer% and B values, and NHR and G values in type III cordectomy group. Moreover, shimmer% and NHR values significantly increase in direct proportion to the severity of the endoscopic status. CONCLUSIONS Results indicate that the type of surgery performed, functional compensation, and outcome measures were related, although for some data, there were no statistical evidence. Individual compliance could strongly influence vocal outcome in these patients.

Clinical pharmacology of melatonin in the treatment of tinnitus: a review

PurposeWe performed a review with the purpose to summarise, analyse and discuss the evidence provided by clinical studies evaluating effectiveness of melatonin in the cure of tinnitus. Due to the fact that there is no satisfactory treatment for tinnitus, clinical research has explored new therapeutic approaches.MethodsA search of Pubmed, Medline, Embase, Central and Google Scholar was conducted to find trials published prior March 2014 on melatonin in the treatment of tinnitus. Design of the studies, randomization, allocation concealment procedures and diagnostic instruments (scales for tinnitus evaluation) were critical evaluated.ResultsFive clinical studies have been included. Three of them tested effectiveness of melatonin alone, the remaining two along with sulpiride and sulodexide respectively. Considered clinical trials adopted various experimental designs: single arm, randomised placebo-controlled and randomised placebo-controlled followed by crossover. These studies were characterised by several methodological weaknesses.ConclusionConfirmation of melatonin clinical effectiveness in the treatment of tinnitus cannot be given in the light of the biases observed in the considered evidence. Melatonin seems to improve sleep disturbance linked to tinnitus.

Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.

Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) and connexin 30 (GJB6) have been shown to be a major contributor to prelingual, sensorineural, nonsyndromic deafness.

Ear, nose and throat (ENT) involvement in zoonotic diseases: a systematic review

INTRODUCTION Zoonoses are infections transmitted from animal to man, either directly (through direct contact or contact with animal products) or indirectly (through an intermediate vector, such as an arthropod). The causative agents include bacteria, parasites, viruses, and fungi. The purpose of this review is to make an accurate examination of all zoonotic diseases that can be responsible of ear, nose, and throat (ENT) involvement. METHODOLOGY A PubMed search was performed combining the terms (otorhinolaryngology OR rhinology OR laryngology OR otology OR mastoiditis OR otitis OR sinusitis OR laryngitis OR rhinitis OR pharyngitis OR epiglottitis OR dysphonia OR ear OR larynx OR nose OR pharynx) with each one of the etiological agents of zoonoses for the period between January 1997 and August 2012 without language restrictions. RESULTS A total of 164 articles were selected and examined. Larynx was the most commonly involved ENT organ, followed by oral cavity, pharynx, and neck. Bacteria were the most representative microorganisms involved. Nose and major salivary glands were affected most frequently by protozoa; paranasal sinus, oral cavity, ear, neck, nerves and upper airway by bacteria; and larynx by fungi. CONCLUSIONS ENT symptoms and signs may be present in many zoonotic diseases, some of which are also present in industrialized countries. Most zoonotic diseases are not commonly encountered by ENT specialists. Appreciation of the possible occurrence of these diseases is important for a correct microbiological approach, which often requires special culture media and diagnostic techniques.

Neonatal stridor and laryngeal cyst: Which comes first?

Neonatal stridor is a rare condition usually caused by laryngomalacia. Congenital laryngeal cyst represents an uncommon cause of stridor in the neonatal population and may be misinterpreted as laryngomalacia, leading to serious morbidity and mortality if diagnosis and treatment are delayed. Herein we report the case of a full‐term infant with stridor, feeding problems and failure to thrive. Initially, direct laryngoscopy diagnosed only laryngomalacia. As stridor worsened, however, and respiratory distress appeared, repeat laryngoscopy showed vallecular laryngeal cyst, visible macroscopically. The patient was successfully treated with endoscopic marsupialization. There was no evidence of recurrence at follow up after 3 months. This case highlights the importance of laryngoscopic assessment for suspected laryngeal abnormalities in infants with stridor. If symptoms worsen, endoscopy should be repeated, because congenital laryngeal cysts may not be immediately visible macroscopically.

Olfactory event-related potentials: a new approach for the evaluation of olfaction in nasopharyngeal carcinoma patients treated with chemo-radiotherapy

OBJECTIVE Olfactory dysfunction is a possible side effect of chemo-radiotherapy performed in patients affected by nasopharyngeal carcinoma. Self-rating measurements and olfactory event-related potentials were used and compared in order to evaluate the impact of this treatment on the olfactory system. METHODS Nine patients underwent subjective evaluation of olfactory function (using visual analogue scales for olfactory symptoms and quality of life, and a six-item Hyposmia Rating Scale), and a quantitative and objective measurement (olfactory event-related potentials). RESULTS Spearmans rank correlation analyses highlighted significant relationships between the clinical scales and olfactory event-related potentials. Inter-group analyses showed significant differences in the latency and in the amplitude of olfactory event-related potentials between patients and controls. CONCLUSION Taking into account the small sample size and the lack of pre-treatment assessment, olfactory event-related potentials seemed to allow a more objective diagnosis of unilateral and bilateral olfactory loss. Moreover, olfactory event-related potentials and subjective scales results were concordant.

Penetrating foreign body in the nasal floor through nasolacrimal duct

Clinical otolaryngologists frequently encounter nasal foreign bodies (FBs) particularly among children. The removal of nasal FBs is a common otolaryngological practice. However, occasionally trauma results from FBs being lodged in the nasal cavity especially through the nasolacrimal duct. In this article we present an unusual case of a FB that from the left medial canthus went inside the nasolacrimal duct, then through the inferior turbinate and stuck in the floor of the nose. We describe the transnasal endoscopic approach used and we recommend that the treatment be done as soon as possible to avoid complications.

Mandibular advancement devices vs nasal-continuous positive airway pressure in the treatment of obstructive sleep apnoea. Systematic review and meta-analysis

Background Obstructive sleep apnoea (OSA) is a common disorder that may affect at least 2 to 4% of the adult population. Nasal-Continuous Positive Airway Pressure (N-CPAP) is today considered the gold standard for the treatment of OSA. The development of oral appliances (OAs) represents a new approach for the management of this pathology. The aim of this systematic review is to compare the efficacy of OAs and N-CPAP in the treatment of patients with mild to severe OSA. Material and Methods A PubMed-MEDLINE and Cochrane databases search of articles published between 1982 and 2016 comparing the effect of N-CPAP and OAs in OSA patients was conducted during July 2016. The studies were selected and stratified according to PRISMA and SORT criteria. The main outcome measure was post-treatment Apnoea-Hypopnoea Index (AHI) while secondary outcomes included post-treatment Epworth Score Scale (ESS) score and lowest Oxygen Saturation level. Results N-CPAP was significantly more effective in suppressing AHI than OA. Moreover, N- CPAP was significantly more effective in increasing post-treatment lowest Oxygen Saturation level than OA. However, no significant different in decreasing ESS values was found between the two treatments. Conclusions On the basis of evidence in this review it would appear appropriate to offer OA therapy to those who are unwilling or unable to persist with CPAP therapy. N-CPAP still must be considered the gold standard treatment for OSA and, therefore, OAs may be included in the list of alternative options. Key words:CPAP, obstructive sleep apnoea, oral appliances.

Role of diffusion tensor imaging in the diagnosis and management of post-traumatic anosmia

ABSTRACT Introduction: Anosmia is a possible complication of Traumatic Brain Injury (TBI). Psychometric and electrophysiological methods of olfaction measure and Magnetic Resonance Imaging (MRI) are the tools to evaluate the post-traumatic olfactory loss. Diffusion Tensor Imaging (DTI) provides useful data for a better understanding of etiopathogenesis TBI-related anosmia, in particular the loss of neural connections and their eventual recovery over time. Materials and methods: This study describes a case of TBI-related anosmia. The olfactory function was evaluated by Sniffin’ Sticks Test (SST), Olfactory Event-Related Potentials (OERPs), MRI and DTI at baseline (T0) and after one year (T1). Results: At baseline, SST highlighted a functional anosmia. The OERPs showed the presence of a small N1–P2 complex. MRI confirmed the presence of a scarring involved in the right orbitofrontal cortex (OFC). DTI detected a reduction in the average length and the number of neuronal fibre pathways of right OFC. At T1, a recovery of olfactory function was confirmed by SST and OERPs. Conclusion: While MRI images are unchanged from T0, DTI showed an increase in average length and number of fibre tracts in the right OFC. DTI could be a valid tool to display a post-traumatic loss of neural connections and to better understand TBI-recovery mechanisms.