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Background: Syndromic hearing loss (SHL) is characterized by hearing impairment accompanied by other clinical manifestations, reaching over 400 syndromes. Early and accurate diagnosis is essential to understand the progression of hearing loss and associated systemic complications. Methods and results: In this study, we investigated the genetic etiology of sensorineural hearing loss in three Moroccan patients using whole exome sequencing (WES). The results revealed in two families Perrault syndrome caused by LARS2, p. Asn153His; p. Thr629Met compound heterozygous variants in two siblings in one family; and p. Thr522Asn, a homozygous variant in two sisters in another. The patient in the third family was diagnosed with D-bifunctional protein deficiency (D-BPD), linked to compound heterozygous mutations p. Asn457Tyr and p. Val643Argfs*5 in HSD17B4. Molecular dynamic simulation results showed that Val643Argfs*5 does not prevent HSD17B4 protein from binding to the PEX5 receptor, but further studies are recommended to verify its effect on HSD17B4 protein functionality. Conclusion: These results highlight the effectiveness of WES in identifying pathogenic mutations involved in heterogeneous disorders and the usefulness of bioinformatics in predicting their effects on protein structure. [ABSTRACT FROM AUTHOR]

Rates of diseases and disabilities that are otherwise preventable are higher in low-income communities and communities of color. These disparities are attributed, in large part, to a power imbalance between residents and decision makers, and restoring resident power is necessary to improve health outcomes. A key strategy in many health promotion programs, resident power building is a process by which residents gain necessary skills to improve social conditions through their involvement in community change work. This study is part of a larger evaluation of Building Healthy Communities, a ground-breaking 10-year, $1 billion place-based initiative funded by The California Endowment designed to reverse the historical impact of racial and economic discrimination by advancing statewide policy, changing the narrative around health, and transforming underserved communities to achieve health equity. This article presents the resident power framework and identifies five domains that contributed to resident power building: continuity, culture, context, concrete action, and capacity. Continuity and culture mattered most to residents' ability to organize and to their ability to exercise their voice, respectively. While this study examined resident power building within the context of a large-scale place-based initiative, the domains that the authors identified are salient across health promotion programs that use power building as a key strategy to achieve program outcomes. The domains serve as opportunities to modify power-building strategies and allow program staff to allocate resources to specific activities to achieve program outcomes. [ABSTRACT FROM AUTHOR]

• Robust auditory-related waves can be recorded non-invasively and subcutaneously in anaesthetised mice. • The generators of these waveforms have been localised to the contralateral auditory cortex. Auditory Brainstem Responses (ABRs) are a reliably robust measure of auditory thresholds in the mammalian hearing system and can be used to determine deficits in the auditory periphery. However, because these measures are limited to the lower stages of the auditory pathway, they are insensitive to changes or deficits that occur in the thalamic and cortical regions. Cortical Auditory Evoked Potentials (CAEPs), as longer latency responses, capture information from these regions. However they are less frequently used as a diagnostic tool, particularly in rodent models, due to their inherent variability and subsequent difficult interpretation. The purpose of this study was to develop a consistent measure of subcutaneous CAEPs to auditory stimuli in mice and to determine their origin. To this end, we investigated the effect on the CAEPs recorded in response to different stimuli (noise, click, and tone (16 kHz) bursts), stimulus presentation rates (2/s, 6/s, 10/s) and electrode placements. Recordings were examined for robust CAEP components to determine the optimal experimental paradigm. We argue that CAEPs can measure robust and replicable cortical responses. Furthermore, by deactivating the auditory cortex with lidocaine we demonstrated that the contralateral cortex is the main contributor to the CAEP. Thus CAEP measurements could prove to be of value diagnostically in future for deficits in higher auditory areas. [ABSTRACT FROM AUTHOR]

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by clinical and genetic heterogeneity. This study aimed to uncover the SD spectrum through a 14-year investigation of a Tunisian cohort encompassing over 700 patients from four referral centers (2007-2021). Employing Sanger sequencing, Targeted Panel Gene Sequencing, and Whole Exome Sequencing, genetic analysis in 30 SD patients identified diagnoses such as Usher syndrome, Waardenburg syndrome, cranio-facial-hand-deafness syndrome, and H syndrome. This latter is a rare genodermatosis characterized by HI, hyperpigmentation, hypertrichosis, and systemic manifestations. A meta-analysis integrating our findings with existing data revealed that nearly 50% of Tunisian SD cases corresponded to rare inherited metabolic disorders. Distinguishing between non-syndromic and syndromic HI poses a challenge, where the age of onset and progression of features significantly impact accurate diagnoses. Despite advancements in local genetic characterization capabilities, certain ultra-rare forms of SD remain underdiagnosed. This research contributes critical insights to inform molecular diagnosis approaches for SD in Tunisia and the broader North-African region, thereby facilitating informed decision-making in clinical practice., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Mkaouar, Riahi, Marrakchi, Mezzi, Romdhane, Boujemaa, Dallali, Sayeb, Lahbib, Jaouadi, Boudabbous, Zekri, Chargui, Messaoud, Elyounsi, Kraoua, Zaouak, Turki, Mokni, Boucher, Petit, Giraudet, Mbarek, Besbes, Halayem, Zainine, Turki, Tounsi, Bonnet, Mrad, Abdelhak, Trabelsi and Charfeddine.)

François Gros, a biologist by training, began his research at the Institut Pasteur. In 1961, he discovered the molecular nature of the proposed intermediary between the gene and the protein, a so-called messenger RNA (mRNA), and determined its main characteristics. The author of numerous books, François Gros has helped shape and enlightened the birth of molecular biology and the development of related biotechnologies since the 1970s. He was Professor at the Collège de France and Permanent Secretary of the French Academy of Sciences. Within the Academy, he initiated the creation of a committee for developing countries (COPED). François Gros was a humanist driven by moral rigour and an unfailing sense of commitment., (CC BY)