PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.

Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.

Therapeutic targeting of cellular senescence in diabetic macular edema: preclinical and phase 1 trial results.

Compromised vascular endothelial barrier function is a salient feature of diabetic complications such as sight-threatening diabetic macular edema (DME). Current standards of care for DME manage aspects of the disease, but require frequent intravitreal administration and are poorly effective in large subsets of patients. Here we provide evidence that an elevated burden of senescent cells in the retina triggers cardinal features of DME pathology and conduct an initial test of senolytic therapy in patients with DME.

Chest Wall and Abdominal Blocks for Thoracic and Abdominal Surgeries: A Review.

Purpose Of Review: The purpose of this review is to provide an up-to-date description and overview of the rapidly growing literature pertaining to techniques and clinical applications of chest wall and abdominal fascial plane blocks in managing perioperative pain.

Recent Findings: Clinical evidence suggests that regional anesthesia blocks, including fascial plane blocks, such as pectoralis, serratus, erector spinae, transversus abdominis, and quadratus lumborum blocks, are effective in providing analgesia for various surgical procedures and have more desirable side effect profile when compared to traditional neuraxial techniques. They offer advantages such as reduced opioid consumption, improved pain control, and decreased opioid-related side effects.

A Machine-Vision Approach to Transmission Electron Microscopy Workflows, Results Analysis and Data Management.

Transmission electron microscopy (TEM) enables users to study materials at their fundamental, atomic scale. Complex experiments routinely generate thousands of images with numerous parameters that require time-consuming and complicated analysis. AXON synchronicity is a machine-vision synchronization (MVS) software solution designed to address the pain points inherent to TEM studies.