DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions.

Background: Newborn screening is a public health system designed to identify infants at risk for conditions early in life to facilitate timely intervention and treatment to prevent or mitigate adverse health outcomes. Newborn screening programs use tandem mass spectrometry as a platform to detect several treatable inborn errors of metabolism, and the T-cell receptor excision circle assay to detect some inborn errors of the immune system. Recent advancements in DNA sequencing have decreased the cost of sequencing and allow us to consider DNA sequencing as an additional platform to complement other newborn screening methods.

Heart rate variability analysis for the prediction of pre-arousal during propofol-remifentanil general anaesthesia: A feasibility study.

Accidental awareness during general anaesthesia is a major complication. Despite the routine use of continuous electroencephalographic monitoring, accidental awareness during general anaesthesia remains relatively frequent and constitutes a significant additional cost. The prediction of patients' arousal during general anaesthesia could help preventing accidental awareness and some researchers have suggested that heart rate variability (HRV) analysis contains valuable information about the patient arousal during general anaesthesia.

Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT.

Although rare diseases individually have a low prevalence, they collectively affect nearly 400 million individuals around the world. On average, it takes five years for an accurate rare disease diagnosis, but many patients remain undiagnosed or misdiagnosed. As machine learning technologies have been used to aid diagnostics in the past, this study aims to test ChatGPT's suitability for rare disease diagnostic support with the enhancement provided by Retrieval Augmented Generation (RAG).

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood.