Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice.

Pompe disease (PD) is a multisystemic progressive disease caused by acid-alpha glucosidase (GAA) deficiency. Patients display a spectrum of phenotypes ranging from the severe, rapidly progressive infantile-onset PD (IOPD) form to the slower progressing late-onset PD (LOPD). Enzyme replacement therapies (ERTs) are the only approved treatments; they decrease mortality in IOPD while maintaining or improving motor and respiratory function in LOPD.

Tamoxifen induces PI3K activation in uterine cancer.

Mutagenic processes and clonal selection contribute to the development of therapy-associated secondary neoplasms, a known complication of cancer treatment. The association between tamoxifen therapy and secondary uterine cancers is uncommon but well established; however, the genetic mechanisms underlying tamoxifen-driven tumorigenesis remain unclear. We find that oncogenic PIK3CA mutations, common in spontaneously arising estrogen-associated de novo uterine cancer, are significantly less frequent in tamoxifen-associated tumors.

High-level visual representations in the human brain are aligned with large language models.

The human brain extracts complex information from visual inputs, including objects, their spatial and semantic interrelations, and their interactions with the environment. However, a quantitative approach for studying this information remains elusive. Here we test whether the contextual information encoded in large language models (LLMs) is beneficial for modelling the complex visual information extracted by the brain from natural scenes.

Sense of Impending Doom: Cardiac Arrest due to Anomalous Left Coronary Artery From the Right Pulmonary Artery.

A 19-year-old female athlete with a history of anxiety and anorexia nervosa (binge-purge and overexercise, in remission) experienced escalating health-focused anxiety preceding cardiorespiratory collapse during exercise. Imaging revealed an anomalous left coronary artery originating from the right pulmonary artery, a rare variant of a typically fatal congenital anomaly. Extensive collateral circulation allowed survival until successful surgical repair, with subsequent full recovery.