ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors tested the diagnostic ability of the Face2Gene app in 23 children with a clinical or genetically confirmed diagnosis of Silver-Russell syndrome (SRS) and 29 children with genetically confirmed Prader-Willi syndrome (PWS). When combined with careful routine clinical history and examination, the Face2Gene app can be a useful diagnostic tool.Among PWS patients, Face2Gene calculated the top 1, top 5, and top 10 sensitivities to be 76%, ...

In Brief: The authors present ‘RETFound’, a self-supervised learning approach that has so far analysed 1.6 million retinal images to enable disease detection. RETFound shows good accuracy for diagnosis and prognosis of sight-threatening eye diseases. It also contributes to incident prediction of complex systemic disorders such as heart failure and myocardial infarction.The well-known saying ‘the eyes are the window to the soul’ means ...

In Brief: This ‘News in focus’ article in the journal Nature describes a non peer-reviewed preprint (1) by researchers at Google Research and Google Deepmind that claims remarkable abilities for medical artificial intelligence (AI), beyond ‘simple’ pattern recognition tasks.The preprint describes Google’s ‘Articulate Medical Intelligence Explorer’ (AMIE), an experimental conversational AI system, or ‘chatb...

In Brief: The authors describe AlphaMissense, a machine-learning tool that predicts the pathogenicity of 71 million human coding variants. 22.8 million variants (32%) are classified as likely pathogenic and 40.9 million (57%) as likely benign. They provide these databases freely as resources to the international research community.These authors from Google DeepMind previously developed and released AlphaFold, a revolutionary machine-learning approach to ...