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    Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
    (2026) Condell, Angelo; Zhang, Elaine; Sikora, Tim; Massey, Sean; Van Bergen, Nicole J.; Wang, Min; Simons, Cas; Bell, Katrina M.; Hock, Daniella H.; Stroud, David A.; Francis, David; Gold, Wendy A.; Delatycki, Martin B.; Christodoulou, John; Kaur, Simranpreet
    The 9q34.11 chromosomal region contains multiple neurodevelopmental genes involved in synaptic transmission, axonal structure and neuronal maturation. Pathogenic microdeletions, duplications and single nucleotide variants in numerous genes were previously linked with neurodevelopmental disorders (NDDs). Amongst them, SET has recently been implicated in a rare NDD with speech delay and facial dysmorphism. This study reports a female with a heterozygous de novo deletion impacting SET but not other NDD-associated genes at 9q34.11. The proband was initially diagnosed with atypical Rett syndrome with overlapping clinical features of SET haploinsufficiency. The deletion was confirmed using microarray and long-read sequencing. Subsequent quantitative proteomic evaluation identified a significant decrease of SET protein in patient-derived fibroblasts compared to control lines. This study provides insights into the proband's clinical course over their 28 year diagnostic odyssey, and emphasises the benefits of early speech therapy interventions. The proband had no functional speech, but regained the capacity to meaningfully communicate and articulate a limited vocabulary in adulthood, concordant with other reported non-paediatric cases of SET-NDD. This study expands current knowledge on the genotypic and phenotypic spectra of SET-NDD, and pinpoints a smaller 9q34.11 critical region excluding upstream NDD-associated genes, STXBP1 and SPTAN1, implicating SET as a significant NDD-associated gene.
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    Class Identity Signaling through the Strategic Rebranding of Traditional Egyptian Food-Related Terms on Digital Platforms
    (2025) Altohami, Waheed M.A.; Omar, Abdulfattah
    This study investigates the way re-branding traditional Egyptian food-related terms is strategically used by an emerging socio-economic class to assert their class identity in digital milieus. Specifically, it analyzes the strategies employed for the Englishization and hybridization of culinary culture and examines the underlying socio-cultural motivations and dynamics driving such an innovative linguistic practice. Drawing on insights from sociolinguistics and sociology, we analyzed two data sets collected by means of an online survey and semi-structured interviews. Findings revealed that there is an emerging exclusive socio-economic class that manifests itself through specific lexical preferences based on diverse types of lexical borrowings. Additionally, the Englishization of traditional Egyptian food-related terms partially drove the emerging class’s rejection of social equality and solidarity with collective socio-cultural Egyptian identity. Such a class division, primarily initiated on digital platforms, was found to be motivated by complex factors at play, including age, gender, educational level, lifestyle, technology usage, etc. The findings of this study have implications for understanding the intersection of language, class identity, and technology in contemporary Egyptian society.
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    Research on Older Adults’ Interaction with E-Health Interface Based on Explainable Artificial Intelligence
    (Springer Science+Business Media B.V., 2024) Huang, Xueting; Zhang, Zhibo; Guo, Fusen; Wang, Xianghao; Chi, Kun; Wu, Kexin
    This paper proposed a comprehensive mixed-methods framework with varied samples of older adults, including user experience, usability assessments, and in-depth interviews with the integration of Explainable Artificial Intelligence (XAI) methods. The experience of older adults’ interaction with the E-health interface is collected through interviews and transformed into operatable databases whereas XAI methods are utilized to explain the collected interview results in this research work. The results show that XAI-infused e-health interfaces could play an important role in bridging the age-related digital divide by investigating elders’ preferences when interacting with E-health interfaces. Furthermore, the study identifies important design factors, such as intuitive visualization and straightforward explanations, that are critical for creating efficient Human-Computer Interaction (HCI) tools among older users. Furthermore, this study emphasizes the revolutionary potential of XAI in e-health interfaces for older users, emphasizing the importance of transparency and understandability in HCI-driven healthcare solutions. This study’s findings have far-reaching implications for the design and development of user-centric e-health technologies, intending to increase the overall well-being of older adults.
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    Beyond ReinMax: Low-Variance Gradient Estimators for Discrete Latent Variables
    (2026) Wang, Daniel; Bui, Thang D.
    Machine learning models involving discrete latent variables require gradient estimators to facilitate backpropagation in a computationally efficient manner. The most recent addition to the Straight-Through family of estimators, ReinMax, can be viewed from a numerical ODE perspective as incorporating an approximation via Heun’s method to reduce bias, but at the cost of high variance. In this work, we introduce the ReinMax-Rao and ReinMax-CV estimators which incorporate Rao-Blackwellisation and control variate techniques into ReinMax to reduce its variance. Our estimators demonstrate superior performance on training variational autoencoders with discrete latent spaces. Furthermore, we investigate the possibility of leveraging alternative numerical methods for constructing more accurate gradient approximations and present an alternative view of ReinMax from a simpler numerical integration perspective.
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    Caution needed in ascribing subthreshold symptoms as autism spectrum disorder: Commentary on “autistic traits distribution in different psychiatric conditions: A cluster analysis on the basis of the adult autism subthreshold spectrum (AdAS SPECTRUM) questionnaire”
    (2024) Bertelli, Marco O.; Boniotti, Veronica; Bianco, Annamaria; Vannucchi, Giulia; Buonaguro, Elisabetta F.; Micai, Martina; Fatta, Laura; Rossi, Michele; Pecchini, Edoardo; Bizzari, Valeria; Conte, Michele; Lombardi, Gianpaolo; Corti, Serafino; Scior, Katrina; Azeem, Muhammad Waqar; Hassiotis, Angela; Baghdadli, Amaria; Scattoni, Maria Luisa; Salvador-Carulla, Luis; Javed, Afzal; Munir, Kerim

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