Fabrication of complex optical phantoms using on-the-fly multi-filament mixing 3-D printing.

We report a method to directly 3-D print complex heterogeneous optical phantoms with programmable tissue-mimicking absorption and scattering properties. The proposed approach utilizes commercially available multi-color mixing extruders and off-the-shelf polylactic acid (PLA) filaments, making this technique low-cost and broadly accessible. We systematically characterized optical properties, including both absorption and reduced scattering coefficients, at a wide range of mixing ratios of gray, white and translucent filaments and validated our hypothesis of a linear-mixing model between the filament mixing ratios and the resulting optical properties.

Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition.

Child Neurology: Common Occurrence of Narcolepsy Type 1 and Myasthenia Gravis.

Narcolepsy with cataplexy and myasthenia gravis are both chronic neurologic conditions causing symptoms of muscle weakness, often affecting facial muscles, and have both been attributed to an immune-mediated etiology. We report an adolescent girl diagnosed with both conditions and discuss possible shared mechanisms and the diagnostic challenges presented by her case to inform and aid clinicians managing children and young people with these rare conditions.