Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

Reducing Sedation for Pediatric Thoracic CT Imaging Using Volumetric Target-mode EKG Gating.

Introduction: Many children require sedation for imaging. We aimed to reduce sedation for thoracic (chest and cardiac) computed tomography (CT) scans in children 0-4 years old from 65% to 20% by December 2018 and to sustain.

Methods: We counted baseline, intervention, and a follow-up period thoracic CT scans performed with sedation in children 0-4 years old.

A shorter linker in the bispecific antibody RmAb158-scFv8D3 improves TfR-mediated blood-brain barrier transcytosis in vitro.

Transferrin Receptor (TfR)-mediated transcytosis across the blood-brain barrier (BBB) enables the uptake of bispecific therapeutic antibodies into the brain. At therapeutically relevant concentrations, bivalent binding to TfR appears to reduce the transcytosis efficiency by receptor crosslinking. In this study, we aimed to improve BBB transcytosis of symmetric antibodies through minimizing their ability to cause TfR crosslinking.

Effect of nonsteroidal anti-inflammatory drugs on neonatal calf diarrhea when administered at a disease alert generated by automated milk feeders.

The objective of this randomized clinical trial was to assess whether early intervention with a nonsteroidal anti-inflammatory drug (NSAID) following a disease alert generated by automated milk feeders could reduce diarrhea severity and improve performance in dairy calves. Seventy-one Holstein calves were enrolled on an automated milk feeder (recorded milk intake and drinking speed) at 3 d of age and received up to 15 L/d (150 g/L) of milk replacer until 35 d of age. An alert that was previously validated as diagnostically accurate to identify calves at risk for diarrhea was used using automated milk feeder data (≤60% rolling dividends in milk intake and/or drinking speed over 2 d).

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.