Publications by authors named "Barruffo L"
Article Synopsis
- Sensorineural hearing impairment is common in patients with X-linked intellectual disability, and this study aimed to explore the genetic causes in a specific affected family.
- The researchers found complex phenotypic traits, such as inner ear malformations and hypotonia, and identified two interstitial deletions on chromosome Xq21.1-21.3 that include genes linked to hearing loss and intellectual disability.
- The study emphasizes the need for further research to clarify the relationship between specific genes and the diverse clinical features observed in these patients.
Aim: To describe the effectiveness of a population-based newborn hearing screening program in an economically deprived region of southern Italy.
Methods: A screening protocol was proposed for all newborns of the Campania region, starting on January, 2007. For infants identified with hearing loss, information on degree and type of hearing loss and presence of risk factors was collected.
The immune status against polioviruses was investigated in a population of 545 students aged 11-20 years residing in the Neapolitan area, who had completed the vaccination cycle with four doses of OPV 5 to over 15 years before. Assuming as unprotected those individuals without detectable neutralizing antibodies at the dilution 1:2, nobody resulted without protection against all types of poliovirus; 0.7% lacked antibodies only against type 1, 0.
View Article and Find Full Text PDFThe H-reflex response, and in particular the excitability cycle of spinal motor-neurones, were studied in a group of patients suffering from glue (n-hexane) neuropathy. Motor and sensitive nerve conduction, EMG, and clinical features were also considered. The results, showing an increased excitability of alpha-motorneurones, give evidence of spinal involvement in these patients.
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