Performance and characteristics of the Newborn Hearing Screening Program in Campania region (Italy) between 2013 and 2019

Purpose: Universal newborn hearing screening (UNHS) in the first month of life is crucial for facilitating both early hearing detection and intervention (EHDI) of significant permanent hearing impairment (PHI). In Campania region, UNHS has been introduced in 2003 by the Regional Council Resolution and started on January 2007. The aim of this paper is to update a previous article describing the performance of the program since its implementation in the period between 2013 and 2019. Methods: A longitudinal retrospective study was carried at the Regional Reference Center III on 350,178 babies born in the analysis period. The paper reports the main results of overall coverage, referral rate, lost-to-follow-up rate,yield for PHI and shall determine various risk factor associations with hearing impairment Results: In Campania region, 318,878 newborns were enrolled at I level, with a coverage rate of 91.06%, 301,818 (86.18%) Well Infant Nurseries (WIN) and 17,060 (5.35%) Neonatal Intensive Care Unit (NICU) babies. PHI was identified in 413 children, 288 (69.73%) bilaterally and 125 (30.26%) unilaterally. The overall cumulative incidence rate of PHI was 1.29 per 1000 live-born infants (95% CI 1.17–1.42) with a quite steady tendency during the whole study period. Conclusions: This study confirms the feasibility and effectiveness of UNHS in Campania region also in a setting with major socioeconomic and health organization restrictions.The program meets quality benchmarks to evaluate the progress of UNHS. Nowadays, it is possible to achieve an early diagnosis of all types of HL avoiding the consequences of hearing deprivation

Ipoacusia e declino cognitivo: revisione della letteratura

La perdita dell’udito legata all’età o presbiacusia è un deficit correlato al processo irreversibile di invecchiamento che riconosce una patogenesi multifattoriale. Crescenti osservazioni hanno collegato la presbiacusia a una rapida progressione del declino cognitivo e incidentalmente con la demenza. Molti aspetti della vita quotidiana degli anziani sono stati collegati alle loro capacità uditive, mostrando che la perdita uditiva incide sulla qualità della vita, i rapporti sociali, le capacità motorie, gli aspetti psicologici, la funzione e la morfologia di specifiche aree cerebrali. Studi epidemiologici e clinici confermano l’ipotesi di un legame tra queste condizioni e questo lavoro ha lo scopo di fare il punto sui meccanismi patogenetici che sostengono tale associazione. Lo sforzo di un lavoro congiunto tra otorinolaringoiatri, audiologi, neurologi e cognitivisti è quello di chiarire gli aspetti comuni, le possibilità di diagnosi e di intervento precoce al fine di ridurre gli effetti dell’uno sull’altro di questi processi degenerativi. Le osservazioni sperimentali e cliniche si concentrano su differenti aspetti: in primo luogo la deprivazione uditiva per lungo tempo può avere un impatto negativo sulle prestazioni cognitive diminuendo la qualità della comunicazione che porta all’isolamento sociale e la depressione e quindi facilitare la demenza. Al contrario, le capacità cognitive limitate possono ridurre le risorse cognitive disponibili per la percezione uditiva, aumentando così gli effetti della perdita dell’udito. Inoltre, questa associazione può rappresentare la conseguenza di una ‘causa comune’ nella patogenesi del deficit uditivo e del sistema nervoso centrale. Infatti, molti dei fattori eziopatogenetici sono comuni, quali le cause microvascolari della malattia (es. diabete, aterosclerosi, ipertensione). La sfida di questi anni è quella di aumentare le conoscenze sui rapporti tra invecchiamento cerebrale e cognitivo ed ipoacusia, grazie anche ai progressi del neuroimaging. Sorprendentemente pochi dati sono stati pubblicati sull’utilità delle protesi acustiche nel cambiare la storia naturale di declino cognitivo. La protesizzazione e gli impianti cocleari possono migliorare le attività sociali e la sfera emotiva, la comunicazione e quindi più in generale la funzione cognitiva, con un globale impatto positivo sulla qualità della vita. Lo scopo di questo lavoro è quello di fornire le informazioni attualmente disponibili in letteratura su rapporto tra declino cognitivo e deficit uditivo nell’anziano, fornendo nuovi spunti di ricerca per il futuro

Molecular targets for anticancer redox chemotherapy and cisplatin-induced ototoxicity: the role of curcumin on pSTAT3 and Nrf-2 signalling

In oncology, an emerging paradigm emphasises molecularly targeted approaches for cancer prevention and therapy and the use of adjuvant chemotherapeutics to overcome cisplatin limitations. Owing to their safe use, some polyphenols, such as curcumin, modulate important pathways or molecular targets in cancers. This paper focuses on curcumin as an adjuvant molecule to cisplatin by analysing its potential implications on the molecular targets, signal transducer and activator of transcription 3 (STAT3) and NF-E2 p45-related factor 2 (Nrf-2), in tumour progression and cisplatin resistance in vitro and the adverse effect ototoxicity in vivo

Noise-induced cochlear damage involves ppar down-regulation through the interplay between oxidative stress and inflammation

The cross-talk between oxidative stress and inflammation seems to play a key role in noise-induced hearing loss. Several studies have addressed the role of PPAR receptors in mediating antioxidant and anti-inflammatory effects and, although its protective activity has been demonstrated in several tissues, less is known about how PPARs could be involved in cochlear dysfunction induced by noise exposure. In this study, we used an in vivo model of noise-induced hearing loss to investigate how oxidative stress and inflammation participate in cochlear dysfunction through PPAR signaling pathways. Specifically, we found a progressive decrease in PPAR expression in the cochlea after acoustic trauma, paralleled by an increase in oxidative stress and inflammation. By comparing an antioxidant (Q-ter) and an anti-inflammatory (Anakinra) treatment, we demonstrated that oxidative stress is the primary element of damage in noise-induced cochlear injury and that increased inflammation can be considered a consequence of PPAR down-regulation induced by ROS production. Indeed, by decreasing oxidative stress, PPARs returned to control values, reactivating the negative control on inflammation in a feedback loop

Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.

Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are the most common cause of sensorineural hearing impairment. The truncating variant 35delG, which determines a complete loss of Cx26 protein function, is the prevalent GJB2 mutation in several populations. Here, we generated and analyzed Gjb2+/- mice as a model of heterozygous human carriers of 35delG. Compared to control mice, auditory brainstem responses (ABRs) and distortion product otoacoustic emissions (DPOAEs) worsened over time more rapidly in Gjb2+/- mice, indicating they were affected by accelerated age-related hearing loss (ARHL), or presbycusis. We linked causally the auditory phenotype of Gjb2+/- mice to apoptosis and oxidative damage in the cochlear duct, reduced release of glutathione from connexin hemichannels, decreased nutrient delivery to the sensory epithelium via cochlear gap junctions and deregulated expression of genes that are under transcriptional control of the nuclear factor erythroid 2-related factor 2 (Nrf2), a pivotal regulator of tolerance to redox stress. Moreover, a statistically significant genome-wide association with two genes (PRKCE and TGFB1) related to the Nrf2 pathway (p-value < 4\u202f 7 10-2) was detected in a very large cohort of 4091 individuals, originating from Europe, Caucasus and Central Asia, with hearing phenotype (including 1076 presbycusis patients and 1290 healthy matched controls). We conclude that (i) elements of the Nrf2 pathway are essential for hearing maintenance and (ii) their dysfunction may play an important role in the etiopathogenesis of human presbycusis

Mitochondrial abnormalities and low grade inflammation are present in the skeletal muscle of a minority of patients with amyotrophic lateral sclerosis; an observational myopathology study

BACKGROUND Amyotrophic lateral sclerosis (ALS) is a primary progressive neurodegenerative disease characterised by neuronal loss of lower motor neurons (in the spinal cord and brainstem) and/or upper motor neurons (in the motor cortex) and subsequent denervation atrophy of skeletal muscle. AIM A comprehensive examination of muscle pathology from a cohort of clinically confirmed ALS patients, including an investigation of inflammation, complement activation, and deposition of abnormal proteins in order to compare them with findings from an age-matched, control group. MATERIAL AND METHODS 31 muscle biopsies from clinically confirmed ALS patients and 20 normal controls underwent a comprehensive protocol of histochemical and immunohistochemical stains, including HLA-ABC, C5b-9, p62, and TDP-43. RESULTS Neurogenic changes were confirmed in 30/31 ALS cases. In one case, no neurogenic changes could be detected. Muscle fibre necrosis was seen in 5/31 cases and chronic mononuclear inflammatory cell infiltration in 5/31 (2 of them overlapped with those showing muscle necrosis). In four biopsies there was an increase in the proportion of cytochrome oxidase (COX) negative fibres (2-3%). p62 faintly stained cytoplasmic bodies in eight cases and none were immunoreactive to TDP-43. CONCLUSION This large series of muscle biopsies from patients with ALS demonstrates neurogenic atrophy is a nearly uniform finding and that mild mitochondrial abnormalities and low-grade inflammation can be seen and do not rule out the diagnosis of ALS. These findings could lend support to the notion that ALS is a complex and heterogeneous disorder

Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNA Ser(UCN) gene

We describe a 49-year-old male patient who experienced progressive amyotrophy with no sensorial abnormality in the left arm since 45 years of age. The neuromuscular syndrome was identical to that known as Hirayama disease, a rare form of focal lower motor neuron disease affecting the C7-C8-T1 metamers of the spinal cord. Asymmetric neurosensorial hearing loss was present since age 35 in the patient, and was also documented in an elder sister and in the mother. A muscle biopsy showed cytochrome c oxidase (COX) negative fibers but no ragged-red fibers, and mild reduction of COX was confirmed biochemically. The patient was found to have high levels of a known pathogenic mutation of mtDNA, the 7472insC in the gene encoding the tRNA Ser(UCN). Investigation on several family members showed a correlation between mutation load and clinical severity. This is the second report documenting the association of lower motor neurone involvement with a specific mtDNA. \ua9 2004 Elsevier B.V. All rights reserved

The role of gender in parkinson’s disease

Since the official inclusion of sex and gender in biomedical research, gender differences are recognized as important determinants of the risk of developing neurode-generative diseases in the healthy population. In this review, we collected the available evidence on gender differences in Parkinson’s disease regarding motor and non-motor symp-toms, with a focus on neuropsychiatric symptoms. Finally, we will briefly discuss the issue of pregnancy for parkinso-nian women. Though starting with a more benign pheno-type, as the disease progresses, women are at higher risk of developing disabling treatment-related complications, such as motor and non-motor fluctuations as well as dyskinesia, compared with men. Taken together, these findings chal-lenge the definition of a more benign phenotype in women. Improving our understanding in gender differences in Par-kinson’s disease may result in improving our ability to tailor disease treatment and management