The Swedish COG6-CDG experience and a comprehensive literature review.

Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6-congenital disorders of glycosylation (COG6-CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compound heterozygous variants in were identified, where one (c.

Behavioral responses to a repetitive visual threat stimulus express a persistent state of defensive arousal in Drosophila.

The neural circuit mechanisms underlying emotion states remain poorly understood. Drosophila offers powerful genetic approaches for dissecting neural circuit function, but whether flies exhibit emotion-like behaviors has not been clear. We recently proposed that model organisms may express internal states displaying "emotion primitives," which are general characteristics common to different emotions, rather than specific anthropomorphic emotions such as "fear" or "anxiety.

Mismatched training and test distributions can outperform matched ones.

In learning theory, the training and test sets are assumed to be drawn from the same probability distribution. This assumption is also followed in practical situations, where matching the training and test distributions is considered desirable. Contrary to conventional wisdom, we show that mismatched training and test distributions in supervised learning can in fact outperform matched distributions in terms of the bottom line, the out-of-sample performance, independent of the target function in question.

Tachykinin-expressing neurons control male-specific aggressive arousal in Drosophila.

Males of most species are more aggressive than females, but the neural mechanisms underlying this dimorphism are not clear. Here, we identify a neuron and a gene that control the higher level of aggression characteristic of Drosophila melanogaster males. Males, but not females, contain a small cluster of FruM(+) neurons that express the neuropeptide tachykinin (Tk).