An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome

Includes abstract.Includes bibliographical references (leaves 127-134).Alpha thalassaemia X-linked mental retardation (ATR-X) syndrome is a rare, X-linked intellectual disability syndrome with an estimated prevalence in the range of 1-9/1 000 000. The prevalence in South Africa (SA) is unknown; however in Cape Town there is one extended family with seven males who were clinically, and later molecularly, diagnosed with this condition. Due to the identification of the mutation in this family, carrier and prenatal testing is available. However, since the announcement in 2007 that testing is available, no individuals have presented themselves for their carrier status to be determined. The aim of this study was to investigate the reasons why females in this family have not presented for carrier testing

MedRoBERTa.nl: A Language Model for Dutch Electronic Health Records

This paper presents MedRoBERTa.nl as the first Transformer-based language model for Dutch medical language. We show that using 13GB of text data from Dutch hospital notes, pre-training from scratch results in a better domain-specific language model than further pre-training RobBERT. When extending pre-training on RobBERT, we use a domain-specific vocabulary and re-train the embedding look-up layer. We show that MedRoBERTa.nl, the model that was trained from scratch, outperforms general language models for Dutch on a medical odd-one-out similarity task. MedRoBERTa.nl already reaches higher performance than general language models for Dutch on this task after only 10k pre-training steps. When fine-tuned, MedRobERTa.nl outperforms general language models for Dutch in a task classifying sentences from Dutch hospital notes that contain information about patients' mobility levels