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Publications (3)6.62 Total impact

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    ABSTRACT: 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.
    Molecular Genetics and Metabolism 08/2012; · 2.83 Impact Factor
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    ABSTRACT: 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.
    Molecular Genetics and Metabolism 08/2012; · 2.83 Impact Factor
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    ABSTRACT: 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.
    Journal of voice: official journal of the Voice Foundation 06/2012; · 0.95 Impact Factor