Family and genetic counseling in Leber hereditary optic neuropathy.

Aim: Leber hereditary optic neuropathy (LHON) predominantly manifests during adolescence or young adulthood, resulting in sudden and profound vision loss in individuals who previously had normal vision. This abrupt change significantly impacts daily life, necessitating emotional support, counseling and low-vision rehabilitative services to help affected individuals cope with the shock and adapt to their residual vision. The psychosocial burden of dealing with vision loss extends beyond the individuals directly affected by LHON, affecting matrilineal relatives who face the dual challenges of grieving for their loved one's vision loss and managing their own uncertainty about potential vision loss and its familial implications.

Novel high-throughput oxygen saturation measurements for quantifying the physiological performance of macroalgal early life stages.

Understanding how macroalgal forests will respond to environmental change is critical for predicting future impacts on coastal ecosystems. Although measures of adult macroalgae physiological responses to environmental stress are advancing, measures of early life-stage physiology are rare, in part due to the methodological difficulties associated with their small size. Here we tested a novel, high-throughput method (rate of oxygen consumption and production; ) via a sensor dish reader microplate system to rapidly measure physiological rates of the early life stages of three habitat-forming macroalgae, the kelp Ecklonia radiata and the fucoids Hormosira banksii and Phyllospora comosa.

The Application of Knowledge Engineering via the Use of a Biomimetic Digital Twin Ecosystem, Phenotype-Driven Variant Analysis, and Exome Sequencing to Understand the Molecular Mechanisms of Disease.

Applied artificial intelligence, particularly large language models, in biomedical research is accelerating, but effective discovery and validation requires a toolset without limitations or bias. On January 30, 2023, the National Academies of Sciences, Engineering, and Medicine (NAS) appointed an ad hoc committee to identify the needs and opportunities to advance the mathematical, statistical, and computational foundations of digital twins in applications across science, medicine, engineering, and society. On December 15, 2023, the NAS released a 164-page report, "Foundational Research Gaps and Future Directions for Digital Twins.