Otorhinolaryngology, Cognitive Neuroscience, Genetics (clinical), Pediatrics, Perinatology and Child Health
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Scopus Publications
Scopus Publications
Resilience and vulnerability of neural speech tracking after hearing restoration Alessandra Federici, Marta Fantoni, Francesco Pavani, Giacomo Handjaras, Evgenia Bednaya, Alice Martinelli, Martina Berto, Franco Trabalzini, Emiliano Ricciardi, Elena Nava, Eva Orzan, Benedetta Bianchi, Davide Bottari Communications Biology, 2025 The role of early auditory experience in the development of neural speech tracking remains an open question. To address this issue, we measured neural speech tracking in children with or without functional hearing during their first year of life after their hearing was restored with cochlear implants (CIs), as well as in hearing controls (HC). Neural tracking in children with CIs is unaffected by the absence of perinatal auditory experience. CI users and HC exhibit a similar neural tracking magnitude at short timescales of brain activity. However, neural tracking is delayed in CI users, and its timing depends on the age of hearing restoration. Conversely, at longer timescales, speech tracking is dampened in participants using CIs, thereby accounting for their speech comprehension deficits. These findings highlight the resilience of sensory processing in speech tracking while also demonstrating the vulnerability of higher-level processing to the lack of early auditory experience. Neural speech tracking in children with cochlear implants shows that an early phase of hearing loss affects sensory and higher-level processing differently. Tracking is present at short timescales but weaker at longer ones, impacting comprehension.
Clinical features of hearing loss in congenital CMV and risk factor for progression Lara Fusani, Nadine Couzens, Benedetta Bianchi, Elisabetta Venturini, Elena Chiappini, Hermione Lyall, Luisa Galli International Journal of Audiology, 2025 Objective In congenital cytomegalovirus (cCMV), risk factors for sensorineural hearing loss (SNHL)or deterioration remain unclear, and little is known about specific patterns of sensorineural hearing loss (SNHL). We describe SNHL in a cohort of cCMV infants; we reviewed clinical features and their correlation with distribution, timing, and progression of SNHL.Design Anonymised data regarding the first and the last available audiological assessment, along with clinical and treatment information from children with cCMV and SNHL followed up at Imperial College Healthcare NHS Trust (ICHT) and IRCSS-Meyer Children’s University Hospital (MCH) were reviewed.Study sample Sixty-one children with cCMV and SNHL (both treated and untreated) were included.Results Congenital SNHL was found in 47/61 (77%) children, and 14/61 (23%) developed late-onset SNHL (LO-SNHL) at a median of 4.7 years (IQRs 2.2–6.8). Considering the age at development of LO-HL significant differences were found between the curves of untreated and treated for 6 weeks or 6 months (log rank p = 0.04, 0.0007 respectively); no differences were found among patients treated for 6 weeks or 6 months. On audiological assessment, all tested frequencies were usually affected. The majority of children had abnormal brain imaging at baseline, and those with normal imaging were less likely to have deterioration.Conclusions In this clinical cohort, LO-SNHL occurred more often in untreated children and the median age at deterioration was 4.7 years (IQRs 2.2–6.8), later than in other cohorts, highlighting the importance of ongoing audiological assessment until 5–6 years of age.
MYO7A and USH2A gene sequence variants in Italian patients with usher syndrome Molecular Vision, 2014
Identification of autoantibodies against inner ear antigens in a cohort of children with idiopathic sensorineural hearing loss Elettra Berti, Gaia Vannucci, Claudio Lunardi, Benedetta Bianchi, Caterina Bason, Antonio Puccetti, Teresa Giani, Ilaria Pagnini, Rolando Cimaz, Gabriele Simonini Autoimmunity, 2013 Immune-mediated pathogenesis has been suggested for idiopathic sensorineural hearing loss. Recent studies have investigated the relationship between idiopathic sensorineural hearing loss and autoantibodies against inner ear antigens. We conducted a prospective, observational study in a series of pediatric patients affected by idiopathic sensorineural hearing loss. Autoantibodies against inner ear (anti-Cogan peptide, anti-connexin 26, anti-DEP1/CD148 and anti-reovirus), previously described in the serum of patients with Cogan’s syndrome, were detected in our population. The characteristics of children whose results were positive were also evaluated to verify if clinical data, disease progression and response to treatment could confirm an immune-mediated pathogenesis. Eleven patients were enrolled and 9 of them were positive for inner ear antibodies. Non-organ specific autoantibodies were present in 5 children out of 9. An immune-mediated condition was diagnosed in 2 cases and minor immune manifestations were found in 2 additional patients. In 5 cases hearing loss remained stable without therapy, while 4 children developed progression. Two subjects were treated with corticosteroids and methotrexate, achieving hearing improvement. Another subject showed stabilization on methotrexate. Inner ear autoantibodies can be positive in children with autoimmune sensorineural hearing loss, and in conjunction with clinical data may assist the clinician in identifying a subset amenable for immune modulation therapy. Large prospective studies are needed to investigate usefulness, diagnostic and prognostic role of these autoantibodies.
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome I. Pela, M. Bigozzi, B. Bianchi Clinical Nephrology, 2008 Pendred syndrome is a recessive autosomal disorder characterized by thyroid goiter and sensorineural hearing loss. The Pendred syndrome gene (SLC26A4) encodes a new anion exchanger named pendrin which mediates iodide transport by thyrocytes and regulates ion and fluid transport by the endolymphatic sac epithelium. Pendrin defects result in inner ear malformations, with enlargement of the endolymphatic sac and duct in association with a large vestibular aqueduct. Furthermore, patients may develop endolymphatic hydrops requiring diuretic therapy, mainly in the form of thiazides. Pendrin could also account for apical Cl(-)/ HCO3(-) exchange at level of intercalated cells of the cortical collecting duct in the kidneys, however, humans with Pendred syndrome have no symptoms attributable to renal pendrin abnormalities in basal conditions. We report the case of a child with Pendred syndrome and intercurrent endolymphatic hydrops, who developed profound hypokalemia and severe hypochloremic metabolic alkalosis (potassium 1.7, chloride 70, sodium 129, HCO3 43.8, base excess +17.8 mmol/l, pH 7.52) following thiazide therapy. In subjects with Pendred syndrome thiazide therapy seems to provoke more severe Cl(-) and extracellular volume depletion. A possible explanation could be the defective action of the disrupted pendrin, which exacerbates the effects of the inhibition of C1(-) reabsorption mediated by the thiazide-sensitive NaCl cotransporter (SLC12A3).
Prognostic significance of cyclooxygenase-2 pathway and angiogenesis in head and neck squamous cell carcinoma Oreste Gallo, Emanuela Masini, Benedetta Bianchi, Luca Bruschini, Milena Paglierani, Alessandro Franchi Human Pathology, 2002 Prostaglandins play a critical role in tumor development and growth by regulating numerous biologic processes, including tumor angiogenesis, with clear prognostic and therapeutic implications. The aim of this study was to investigate the prognostic relevance of cyclooxygenase-2 (COX-2) pathway activation in head and neck squamous cell carcinoma (HNSCC). COX-2 activity was analyzed in 52 consecutive patients by assessing protein expression and prostaglandin E(2) (PgE(2)) levels and was then correlated to vascular endothelial growth factor (VEGF) expression and tumor angiogenesis. We evaluated the prognostic impact of these parameters by Kaplan-Meier and Cox survival analysis. COX-2 expression by tumor cells was closely correlated to VEGF expression and to tumor vascularization. According to Kaplan-Meier analysis, patients with COX-2 tumor overexpression and with higher PgE(2) tumor levels had significantly shorter overall survival estimates (P = 0.022 and P = 0.033, respectively). Analogously, patients with more-vascularized tumors had worse survival than those with less-vascularized cancers (P = 0.032). Cox multivariate analysis demonstrated that the most significant prognostic factors were presence of lymph node metastasis, tumor vascularization, COX-2 protein expression, and PgE(2) tumor levels. This study demonstrates a close correlation between COX-2 pathway, VEGF expression, and tumor angiogenesis in HNSCC. In addition, COX-2 overexpression and higher tumor vascularization appear to predict a shorter survival in patients with head and neck cancer.
