Publications by authors named "J H Say"
Background: Cancer predisposition syndromes (CPSs) are responsible for at least 10% of cancer diagnoses in children and adolescents, most of which are not clinically recognised prior to cancer diagnosis. A variety of clinical screening guidelines are used in healthcare settings to help clinicians detect patients who have a higher likelihood of having a CPS. The McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) is an electronic health decision support tool that uses algorithms to help clinicians determine if a child/adolescent diagnosed with cancer should be referred to genetics for a CPS evaluation.
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- Prompt diagnosis of cancer predisposition syndromes (CPS) in children is crucial for effective management and genetic counseling, but many institutions lack the necessary resources for accurate diagnoses.
- The McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) tool was evaluated for its accuracy in predicting CPS in pediatric oncology patients, involving 1,071 participants across multiple centers.
- Results showed that MIPOGG successfully identified 99.5% of patients with confirmed CPS, outperforming standard clinical practices in early detection.
Fluorescent nanodiamonds (NDs) are remarkable objects. They possess unique mechanical and optical properties combined with high surface areas and controllable surface reactivity. They are non-toxic and hence suited for use in biological environments.
View Article and Find Full Text PDFBackground/aims: Monogenic forms of growth hormone insensitivity (GHI) and its treatment with recombinant insulin-like growth factor-1 (rIGF-1) are both associated with glucose dysregulation. We used the information provided by continuous glucose monitoring systems (CGMS) for the clinical management of two children with monogenic GHI prior to the commencement of therapy as well as during the years when they received rIGF-1 treatment and continued to do so after the cessation of therapy.
Methods: We evaluated the extent of hyper- and hypoglycaemia with CGMS.
Objective: We prospectively determined islet autoantibody status in children presenting with diabetes to a single UK region in relation to ethnicity.
Design: 316 (68.0% non-white) children presenting with diabetes between 2006 and 2013 were tested centrally for islet cell autoantibodies (ICA) and glutamic acid decarboxylase autoantibodies (GAD-65) at diagnosis, and if negative for both, tested for insulin autoantibodies (IAA).