Early Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review.

Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in copper accumulation. Symptoms rarely appear before the age of 5, almost never before 3. The phenotypic variability of WD suggests the presence of modifying factors, making early diagnosis challenging.

Women's preferences for genetic screening in routine care: A qualitative study.

Objective: Examine decision-making regarding when women would prefer to receive reproductive carrier and cancer predisposition screening and from what clinician.

Methods: 20 women completed in-depth interviews via Zoom exploring their views on the provision of reproductive carrier and cancer predisposition screening. Our analysis identified themes related to what informs women's preferences for when they would like to receive a genetic screening offer and by which clinician.

Design and experimental validation of a finite-size labyrinthine metamaterial for vibro-acoustics: enabling upscaling towards large-scale structures.

In this article, we present the design and experimental validation of a labyrinthine metamaterial for vibro-acoustic applications. Based on a two-dimensional unit cell, different designs of finite-size metamaterial specimens in a sandwich configuration including two plates are proposed. The design phase includes an optimization based on Bloch-Floquet analysis with the aims of maximizing the band gap and extruding the specimens in the third dimension while keeping the absorption properties almost unaffected.

"A Feeling of Safeness and Freedom": The Promotion of Mental Health Recovery Through Co-Production in an Italian Community Organization.

In mental health promotion, recovery is a process that leads to personal strengthening, control over crucial life decisions, and participation in communities through relevant professional, educational, or family social roles. Co-production, a key aspect of the recovery-oriented approach, emphasizes collaboration and active participation of people with mental health first-hand experience, family members, and citizens. Even though studies on co-production are limited and fragmented, there is evidence that co-production leads to positive outcomes, including improved well-being, empowerment, social connectedness, inclusion, and personal competencies.