Publications by authors named "J A de Ruiter"

Transformer-based Large Language Models (LLMs) have recently increased in popularity, in part due to their impressive performance on a number of language tasks. While LLMs can produce human-like writing, the extent to which these models can learn to predict spoken language in natural interaction remains unclear. This is a nontrivial question, as spoken and written language differ in syntax, pragmatics, and norms that interlocutors follow.

View Article and Find Full Text PDF

Mitochondrial trifunctional protein (MTP) deficiency is a fatty acid oxidation disorder associated with a spectrum of phenotypes. Patients with high residual enzyme activity tend to have milder phenotypes, and recently, fever-induced episodic myopathy was reported in association with a thermosensitive form of MTP deficiency. We report a 10-year-old male with recurrent episodes of acute flaccid paralysis involving upper and lower extremities in association with bulbar muscle weakness in the context of febrile illness, a phenotype reminiscent of recurrent periodic paralysis.

View Article and Find Full Text PDF
Article Synopsis
  • - Gyrate atrophy of the choroid and retina (GACR) is a genetic disorder linked to mutations in the OAT gene, leading to severe vision loss and high ornithine levels due to impaired enzyme function.
  • - The study identified 14 pathogenic variants in the OAT gene, with a specific mutation (p.(Gly353Asp)) found in all Dutch patients, which was shown to result in enzyme dysfunction and prevent effective pyridoxine treatment.
  • - Researchers developed a new diagnostic approach that includes enzymatic analysis of OAT and pyridoxine response tests to improve understanding of GACR and aid in managing patient expectations regarding treatment outcomes.
View Article and Find Full Text PDF

Using copper (Cu) as an electrocatalyst uniquely produces multicarbon products (C-products) during the CO reduction reaction (CO2RR). However, the CO2RR stability of Cu is presently 3 orders of magnitude shorter than required for commercial operation. One means of substantially increasing Cu catalyst lifetimes is through periodic oxidative processes, such as cathodic-anodic pulsing.

View Article and Find Full Text PDF