Osteochondritis dissecans (OCD) is a disease of the joints characterized by idiopathic focal subchondral lesions. Aggrecan, a proteoglycan encoded by the gene, is important for cartilage structure and function. We describe the clinical evolution of a patient with short stature, multi-focal OCD, and subchondral osteopenia that appeared linked to a novel pathogenic variant.
View Article and Find Full Text PDFBackground: Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy in children and adolescents. Infrequently, children with PTC may present with or develop disease not amenable to surgery or radioactive iodine (RAI), and systemic therapy may be an option. Lenvatinib is an oral tyrosine kinase inhibitor that is approved by the Food and Drug Administration for the treatment of adults with locally recurrent or metastatic, progressive, RAI-refractory well-differentiated thyroid carcinoma.
View Article and Find Full Text PDFObjective: To evaluate the impact of the Diabetes Coach Program (DCP) on glycated hemoglobin (A1C) levels in youth with type 1 diabetes. The youth were referred to and participated in the DCP between October 2011 and May 2016.
Methods: The Diabetes Coach visited families in their homes every 1 to 2 weeks and updated patients' diabetes teams regularly.
J Pediatr Endocrinol Metab
July 2014
Background: Multiple endocrine neoplasia type 1 (MEN1) is an inherited neoplasia syndrome that generally presents with hypercalcaemia due to hyperparathyroidism. Insulin-producing tumours are less common components of the syndrome that emerge later during the course of the disease. We report here a case of an adolescent who presented with symptomatic hypoglycaemia as the first indication of MEN1.
View Article and Find Full Text PDFObjectives: Alberta maintains a universal screening program for congenital hypothyroidism, a condition which, when treated promptly prevents neurological impairment. Because the program relies on multiple stakeholders working in different areas, it is not known how effective the overall process is in achieving timely treatment initiation. Our objective was to analyze and describe the informatics of this program.
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