Helena Caria

The central mechanistic hypothesis underlying multifactorial hearing loss posits that genetic susceptibility and environmental exposures act synergistically to disrupt cochlear homeostasis through redox imbalance, mitochondrial dysfunction, and pro-inflammatory mechanisms. This gene–environment paradigm has significant translational implications: elucidating the molecular crosstalk between genetic variants and environmental factors may enable precision risk stratification and the development of targeted otoprotective strategies. The present review provides a comprehensive examination of the major determinants implicated in hearing loss. The manuscript is organized into six main sections that encompass the most relevant domains of current research. First, it offers (I) an overview of epidemiological patterns and the multifactorial nature of hearing impairment. This is followed by (II) a background synthesis of the complex genetic architecture underlying hearing loss. Next, the authors present (III) an outline of environmental determinants and exposure profiles associated with auditory dysfunction, highlighting prominent pollutant/xenobiotic classes (e.g., organic solvents and volatile aromatic hydrocarbons, heavy metals, pesticides, and especially organophosphates and persistent organochlorine compounds), followed by (IV) an analysis of oxidative stress, mitochondrial impairment, and inflammatory pathways involved in cochlear injury. Subsequently, (V) translational perspectives and integrated therapeutic approaches are discussed, with emphasis on epidemiological prevention and precision-based interventions. Finally, (VI) this review addresses current challenges and future directions in elucidating gene–environment interactions in hearing loss.

Objective: Several questionnaires for the diagnosis and characterization of tinnitus are available in English but there is a need for Portuguese standardized questionnaires for use in research and in clinic. The goals of this study were to translate and culturally adapt the ESIT-SQ (European School for Interdisciplinary Tinnitus Research Screening Questionnaire) to Portuguese, and to validate the questionnaire for clinical use. Methods: Translation and cross-cultural adaptation of the instrument were performed. The translation stage included the translation and retroversion of the instrument in the languages of interest (English–Portuguese) by three bilingual translators. Subsequently, cross-cultural adaptation was performed involving an Experts Panel (n = 5) and a Patient Panel (n = 4) to evaluate the questionnaire versions obtained after translation and retroversion. Participants completed their evaluation in Microsoft Forms. All ambiguities and uncertainties were addressed by the research team. Validation of the questionnaire involved an ENT specialist (n = 1), health researchers (n = 3), and patients (n = 300). Results: The Portuguese version of the ESIT-SQ (ESIT-SQ-PT) was found to be culturally appropriate, clear, and valid for clinical use. Expert review confirmed strong face validity, with only minor textual adjustments needed. The validation study, involving both online and paper responses, demonstrated good reproducibility and internal consistency across diverse participant profiles. The questionnaire effectively captured a wide range of tinnitus characteristics and associated factors, and reliability analyses confirmed its temporal stability. Overall, the ESIT-SQ-PT proved to be a robust and reliable instrument for assessing tinnitus in Portuguese-speaking populations. Conclusion: The ESIT-SQ in Portuguese (ESIT-SQ-PT), had good face validity, was comprehensible, and was culturally appropriate; thus, it is a valid tool for the screening and assessment of tinnitus and associated symptoms in Portuguese populations.

In the context of healthcare institutions, leveraging technology for adaptability means considering advancements that enhance the institution's ability to respond to changes, challenges, and opportunities in the healthcare sector. Common examples include implementing telemedicine and remote monitoring, as well as adopting electronic health records in developed countries. Additionally, predictive modelling through data analytics broadens health information and integrates IoT devices and wearable technology. These advancements highlight the ongoing technological evolution in healthcare. This paper aims to analyse established practices with a focus on how technology enhances adaptability and improvements in healthcare organizations to increase the efficacy of care. It explores the use of digital tools, the application of data-driven insights, and the implementation of agile practices to achieve three key objectives: improving patient care, increasing operational efficiency, and strengthening organizational resilience in response to the dynamic challenges of the healthcare.

Amidst the COVID-19 pandemic, the Polytechnic University of Setúbal (IPS) used its expertise in molecular genetics to establish a COVID-19 laboratory, addressing the demand for community-wide testing. Following standard protocols, the IPS COVID Lab received national accreditation in October 2020 and was registered in February 2021. With the emergence of new SARS-CoV-2 variants and safety concerns for students and staff, the lab was further challenged to develop rapid and sensitive diagnostic technologies. Methodologies such as sample-pooling extraction and multiplex protocols were developed to enhance testing efficiency without compromising accuracy. Through Real-Time Reverse Transcription Polymerase Chain Reaction (RT-qPCR) analysis, the effectiveness of sample pooling was validated, proving to be a clear success in COVID-19 screening. Regarding multiplex analysis, the IPS COVID Lab developed an in-house protocol, achieving a sensitivity comparable to that of standard methods while reducing operational time and reagent consumption. This approach, requiring only two wells of a PCR plate (instead of three for samples), presents a more efficient alternative for future testing scenarios, increasing its throughput and testing capacity while upholding accuracy standards. The lessons learned during the SARS-CoV-2 pandemic provide added value for future pandemic situations.

Scientific and technological developments are unquestionable, being health in general and human genetics specifically, domains where high throughputs are gorgeous. The internet is changing the behavior of patients with clinicians and health organizations. The project of human genomes ensured new approaches to estimate cause-disease relations. Genotype-phenotype correlations and screening of mutation are now available to all researchers. However, the scientific data are also available to the patients, bringing them to the floor as active partners in therapeutic processes searching with ”Dr. Google” for symptoms, treatments, and cures. Hereditary deafness is not escaping from this civil movement, being a good example of the behavioral change associated with the explosion of the internet, with the commercial offers of hearing aids and cochlear implants offers to be common nowadays. In the chapter, the authors discuss the internet of behaviors in the context of biomedical sciences as human genetics, and hearing loss. Request access from your librarian to read this chapter's full text.

The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc

Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of São Tomé and Príncipe, where the deaf community is estimated to be less than 1% of the population. We investigated the role of the DFNB1 locus ( GJB2 and GJB6 genes) in the etiology of nonsyndromic sensorineural hearing loss (NSSHL) in São Tomé and Príncipe. A sample of 316 individuals, comprising 136 NSSHL patients (92 bilateral, 44 unilateral) and 180 controls, underwent a clinical and audiological examination. Sequencing of the GJB2 coding region and testing for the ( GJB6 -D13S1830) and del( GJB6 -D13S1854) GJB6 deletions were performed. A total of 311 out of 316 individuals were successfully analyzed regarding the GJB2 and GJB6 genetic variations, respectively. The frequency of the GJB2 coding mutations in patients and controls was low. Some of those coding mutations are the most commonly found in Eurasian and Mediterranean populations and have also been identified in Portugal. None of the GJB6 deletions was present. The presence of certain coding variants in São Tomé and Príncipe suggests a non–Sub-Saharan genetic influx and supports the previously reported genetic influx from European (mainly Portuguese) ancestors. In summary, DFNB1 locus does not appear to be a major contributor to NSSHL in São Tomé and Príncipe. However, the presence of both pathogenic and likely pathogenic mutations in GJB2 suggests that GJB2 -related NSSHL might still occur in this population, warranting further research on GJB2 testing in NSSHL cases.

Objective: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 264 Portuguese NSSHL patients. Results: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. Conclusions: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.