The Impact of Age and Duration of Cochlear Implant in a Congenital Deaf Population: An ERP Study

Objective: It is well known that patients with Cochlear Implant (CI) have a large inter-individual variability in linguistic and auditory performances. This can be related to individual auditory processing abilities and integrity of auditory system from auditory nerve to cerebral cortex. P300 can be used for the evaluation of central auditory functions in people with hearing loss and CI. No studies considered the P300 in the population of prelingually deafened adults that underwent CI in old age. The aim of this study is to assess Event Related Potential (ERP) in patients with congenital profound hearing loss with early or late implantation and evaluate these results respect to an age-matched normal hearing group. Methods: ERPs (N100, N200 and P300) and auditory benefit testing (pure tone average and speech audiometric test) and auditory perception testing (Categories of Auditory Performance\u2014CAP) were evaluated in all subjects with their device. Results: All mean latencies (N100, N200 and P300) were found greater in patients group compared to control group. When analyzing all measures in patient group, we did not find any significant differences according to age of implant while significant difference (p > 0.05) in N100 amplitude (p = 0.045) and P300 latency (p = 0.035) were found according to time of CI use. A linear correlation between N200 and P300 latency in control and patients groups was found. Conclusion: In summary, ERPs analysis in the evaluation of CI showed a great importance of long use of the device in addiction to an early time of implant

Temperature-Associated Effects on Flavonol Content in Field-Grown Phaseolus vulgaris L. Zolfino del Pratomagno

Combining the need to increase local Phaseolus vulgaris L. production, with the objective of identifying which abiotic inductors (irrigation and temperature) and/or elicitors (nitrogen fertilizer treatment) can be used as potential strategies to improve flavonol content, open-field experiments were conducted in Pisa and Bologna (Italy) over two years, using the local landrace of interest \u201cZolfino del Pratomagno\u201d, and a commercial variety, Verdone. Full-irrigation and nitrogen treatment, individually, and in combination, increased yield and decreased flavonols, respectively, in both genotypes and locations. Yield, under all treatments, was significantly higher in Pisa (17.5\u2013 21.9 \ub0C) than Bologna (21.4\u201324.8 \ub0C) for Verdone, but was the equivalent for Zolfino. An inverse correlation between average mean temperature and flavonol content was evident only in Zolfino. The feasibility of increasing dietary flavonol production using decreasing temperature as a strategy with some degree of control was then tested by cultivating Zolfino at different altitudes (108 (24 \ub0C) to 800 m a.s.l. (18 \ub0C)) in Pratomagno. Increasing the altitude induced a significant 3-fold increase in seed-coat kaempferol glycosides, comprising more than 95% of the total flavonols. Temperatureassociated effects on flavonol synthesis warrants consideration when selecting a cultivation environment to augment the kaempferol-based, anticarcinogenic benefits of Zolfino

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential for proper genetic counseling, recurrence risk estimation, and therapeutic options. From 20 to 40% of patients carry mutations in GJB2 gene, thus, in more than half of cases it is necessary to look for causative variants in the other genes so far identified (~100). In this light, the use of next-generation sequencing technologies has proved to be the best solution for mutational screening, even though it is not always conclusive. Here we describe a combined approach, based on targeted re-sequencing (TRS) of 96 HHL genes followed by high-density SNP arrays, aimed at the identification of the molecular causes of non-syndromic HHL (NSHL). This strategy has been applied to study 103 Italian unrelated cases, negative for mutations in GJB2, and led to the characterization of 31% of them (i.e., 37% of familial and 26.3% of sporadic cases). In particular, TRS revealed TECTA and ACTG1 genes as major players in the Italian population. Furthermore, two de novo missense variants in ACTG1 have been identified and investigated through protein modeling and molecular dynamics simulations, confirming their likely pathogenic effect. Among the selected patients analyzed by SNP arrays (negative to TRS, or with a single variant in a recessive gene) a molecular diagnosis was reached in ~36% of cases, highlighting the importance to look for large insertions/deletions. Moreover, copy number variants analysis led to the identification of the first case of uniparental disomy involving LOXHD1 gene. Overall, taking into account the contribution of GJB2, plus the results from TRS and SNP arrays, it was possible to reach a molecular diagnosis in ~51% of NSHL cases. These data proved the usefulness of a combined approach for the analysis of NSHL and for the definition of the epidemiological picture of HHL in the Italian population

Cochlear Implant in Patients with Intralabyrinthine Schwannoma without Tumor Removal

(1) Background: Schwannomas of the vestibulocochlear nerve are benign, slow-growing tumors, arising from the Schwann cells. When they originate from neural elements within the vestibule or cochlea, they are defined as intralabyrinthine schwannomas (ILSs). Cochlear implant (CI) has been reported as a feasible solution for hearing restoration in these patients. (2) Methods: Two patients with single-sided deafness (SSD) due to sudden sensorineural hearing loss and ipsilateral tinnitus were the cases. MRI detected an ILS. CI was positioned using a standard round window approach without tumor removal. (3) Results: The hearing threshold was 35 dB in one case and 30 dB in the other 6 mo after activation. Speech audiometry with bisillables in quiet was 21% and 27% at 65 dB, and the tinnitus was completely resolved or reduced. In the localization test, a 25.9° error azimuth was obtained with CI on, compared to 43.2° without CI. The data log reported a daily use of 11 h and 14 h. In order to not decrease the CI’s performance, we decided not to perform tumor exeresis, but only CI surgery to restore functional binaural hearing. (4) Conclusions: These are the sixth and seventh cases in the literature of CI in patients with ILS without any tumor treatment and the first with SSD. Cochlear implant without tumor removal can be a feasible option for restoring binaural hearing without worsening the CI’s performance

Heart problems and deafness: are they more common than supposed?

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