Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening.

Krabbe disease (KD), which affects 0.3-2.6 per 100 000 live births, is an autosomal recessive lysosomal disorder caused by variants in the GALC gene that reduce galactosylceramidase (GALC) activity, leading to psychosine accumulation, cerebral white matter degeneration, and peripheral neuropathy.

Conditional Activation of Protein Therapeutics by Templated Removal of Peptide Nucleic Acid Masking Groups.

Interleukin-2 (IL-2)-based therapeutics are emerging as treatments for immunotherapy; however, systemic activation of immune cells hampers their success. Chemically controlling the activity of potent cytokines could mitigate unwanted T cell stimulation and widen their therapeutic window. In this study, we developed a strategy for the conditional activation of proteins utilizing removable peptide nucleic acid (PNA) masking groups.

Postnatal Depression Beyond 12 Months: A Systematic Review and Meta-Analysis.

Traditionally, postnatal depression (PND) has been considered as depression in the first year after giving birth, although it has been argued that the 12-month cut-off may be somewhat arbitrary. Specialist perinatal mental health services in England have recently been extended to include women in their second year postpartum; however, there is no good estimate for the prevalence of PND beyond the first year. This review aimed to obtain the best estimate of the prevalence of PND in the second postpartum year.

Three-Dimensional Design and Implementation of a Dual Compartment Imaging Chamber to Assess Effects of Hypertonic Saline on Periaxonal Swelling and Axonal Spheroid Formation Following Cervical Contusive Spinal Cord Injury in Real Time.

Contusive and compressive spinal cord injury (SCI) induces pathological changes to spinal cord white matter (WM) including periaxonal swelling and resultant disruption of the axomyelinic interface, axonal swelling/spheroid formation, and secondary axonal transection. To further our knowledge of the role of vascular edema in these pathological changes to WM, we designed, and three-dimensional (3D) printed a dual-compartment imaging chamber separated by a semipermeable membrane to mimic and manipulate interstitial and vascular fluid compartments in real time. We hypothesized that hypertonic saline (HTS) applied to the "vascular" chamber would osmotically shift fluid out of the periaxonal space and preserve myelinated fibers after SCI.

Nutrient limitation and seasonality associated with phytoplankton communities and cyanotoxin production in a large, hypereutrophic lake.

Though freshwater harmful algal blooms have been described and studied for decades, several important dynamics remain uncertain, including the relationships among nutrient concentrations, phytoplankton growth, and cyanotoxin production. To identify when and where nutrients limit phytoplankton, cyanobacteria, and cyanotoxins, we conducted in situ bioassay studies. We added nitrogen (N), phosphorus (P), or N + P across various seasons in water collected from three locations across Utah Lake, one of the largest freshwater lakes in the western U.