Fabrizio Barbetti
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Neonatal diabetes mellitus around the world: Update 2024
Introduction Neonatal diabetes mellitus (NDM), is diabetes appearing within the first 6 months of life and a type of monogenic diabetes. NDM is caused by many genes, most of which have an impact on pancreatic β cell formation or/and function, leading to extremely reduced or absent plasma insulin levels. In a small percentage of patients NDM (often in alternation with hypoglycemia) is caused by mutations in genes affecting insulin action.
Case report: Thyroid storm in a three-year-old girl presenting with febrile status epilepticus and hypoglycemia
Yusuke Aoki1, Ryo Hanaki1, Hidemi Toyoda1*, Koichi Emori1,2, Masazumi Miyahara2 and Masahiro Hirayama1 1Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan 2Department of Pediatrics, Okanami General Hospital, Iga, Japan Thyroid storm, though extremely rare in toddlers, requires prompt diagnosis and treatment because it can be fatal if left untreated.
Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20
Conghui Cao, Xue Fu and Xiaoli Wang* Department of Endocrinology and Metabolism, Institute of Endocrinology, National Health Commission (NHC) Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, China Background: Haploinsufficiency of A20 (HA20) is a monogenic autosomal-dominant genetic autoinflammatory disease caused by loss of function mutations in the TNFAIP3 gene.
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