Fabio Matteucci

Assessment of Swallowing by Oropharyngoesophageal Scintigraphy in Patients with Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is the most common degenerative motor neuron disease in adults, and dysphagia is one of its most frequent and disabling symptoms. Oropharyngoesophageal scintigraphy (OPES) permits a functional and semiquantitative study of the various stages of swallowing. We studied 28 ALS patients (12 females and 16 males; mean age = 63.57 ± 10.39 yr SD), who were clinically rated against the ALSFRS scale (Amyotrophic Lateral Sclerosis Functioning Rating Scale) and underwent OPES with 99mTc-nanocolloid using either a liquid or a semisolid bolus. The semiquantitative parameters we analyzed were Oral Transit Time (OTT), Pharyngeal Transit Time (PTT), Esophageal Transit Time (ETT), Retention Index (RI), and Esophageal Emptying Rate (EER10s). Hence, the OPES performed with a semisolid bolus produced a higher proportion of pathologic values for the swallowing variables than when liquid bolus was used. Analyzed by grouping the patients into classes according to their bulbar ALSFRS scores, we found a significant increase in the OTT (p < 0.005), PTT (p < 0.02), and Oropharyngeal Retention Index (OPRI) (p < 0.0004) variables in ALS patients with more severe bulbar involvement. OPES has turned out to be a very important examination for detecting tracheal-bronchial inhalation and it also offers the possibility of acquiring a semiquantitative evaluation of the amount of food inhaled. In our experience, OPES in patients with ALS has been easy to use, economic, well tolerated, and capable of supplying precise indications with regard to the extent of the swallowing disorder, which permits a better clinical definition of the ALS patient.

Progressive sensorineural hearing loss in childhood

Prevalence of progressive sensorineural hearing loss in childhood seems to be extremely variable, as percentages reported range from 4 to 30%. Differences in the criteria employed for identifying the deterioration, in the groups of patients, and the age range, could explain this wide range of reported figures. The etiology of the progressive sensorineural hearing loss in infants can be hereditary or acquired. Hereditary causes are divided into syndromic and non-syndromic, whereas the acquired causes include congenital or acquired infection (syphilis, cytomegalovirus, rubella virus and toxoplasma infections, bacterial meningitis and acquired viral infections) and congenital inner ear anomalies (Mondinis dysplasia, large vestibular aqueduct, large cochlear aqueduct). Other acquired causes such as disorders of the metabolism, chronic use of ototoxic drugs, autoimmune diseases, perilymphatic fistula and head or acoustic trauma are less common. The age of onset of deterioration shows a great variability because even the congenital hearing losses may occur late after birth. The progressive evolution seems to be binaural in most patients, but more commonly it presents interaural differences, and when the hearing deficit is initially asymmetrical the deterioration is usually greater in the ear which appeared least affected in the first audiogram. Furthermore, at the different frequencies, there is a tendency to a greater deterioration at the frequencies initially least affected, but some authors are not in agreement because they report a uniform pattern of progression in the range of 0.5 to 4 kHz with no modification of the audiometric shape in most of the examined patients.

Sex Hormone Receptors in Vocal Fold Tissue: A Theory about the Influence of Sex Hormones in the Larynx

Objective: The larynx is considered a secondary sexual organ. To demonstrate that sex hormones can directly influence laryngeal function, specific receptors in the vocal cord must be identified. Materials and Methods: We searched for estrogen, progesterone and androgen receptors, using an immunohistochemical method, in normal human vocal cords (from 3 cadavers) and in samples of healthy vocal cords and of laryngeal carcinomas from 15 live subjects. Breast and prostate carcinoma were used as controls. Results: In all the normal samples tested, the results were negative; there was only a nonspecific cytoplasmatic response in the subepithelial glands (false positives). In the neoplastic tissue, 2 samples had a weak nuclear focal positivity for estrogen and progesterone receptors; all 15 subjects studied were negative for androgen receptors. Conclusions: Since our data show that sex hormone receptors are absent in the vocal cords, other theories must be considered to explain the fact that hormones influence the quality of the voice. This study discusses the possibility that the changes of voice according to gender and throughout life might be linked with a different expression of some growth factors in the laryngeal tissue and that this expression might in turn be influenced by hormonal variations.

Neuro-laryngeal involvement in Churg-Strauss syndrome

Abstract We report our clinical experience in managing a 59-year-old Italian male with Churg-Strauss syndrome (CSS) whose first clinical manifestation was a persistent dysphonia; the patient worked as a mechanic. Video-laryngostroboscopic examination revealed paresis of the right vocal fold with a reduction in adduction together with incomplete glottal closure. Spectrographic and spirometric tests both showed abnormal changes. Laryngeal electromyography revealed neurogenic damage of the right thyroarytenoid and crycoarytenoid muscles. Due to the appearance of typical signs of systemic involvement of CSS as a necrotizing vasculitis, the patient was admitted to the Rheumatology Unit of the University of Pisa. Histologic analysis of a skin lesion on the patient’s foot confirmed the diagnosis. Treatment with 6-methylprednisolone quickly brought remission from systemic and laryngeal symptoms, as well as improvement in the results of video-laryngostroboscopic, spectrographic and laryngeal myographic tests.

Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: The Chudley–McCullough syndrome†

We describe an Italian family in which two sisters have macrocephaly due to hydrocephalus, and sensorineural hearing loss in addition to other brain abnormalities demonstrated by Magnetic resonance imaging (MRI). The girls, born to healthy non‐consanguineous parents, have borderline psychomotor development delay (probably due to hearing defect) and minor dysmorphisms. The clinical picture fits the Chudley–McCullough syndrome, an autosomal recessive condition, to date described in only five families. Our data, in particular the neuroradiological findings, include all brain anomalies variably reported in previous works (hydrocephalus, corpus callosum partial agenesis, interhemispheric cyst, cerebral and cerebellar cortex dysplasia), thus illustrating the full phenotype of the syndrome.