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Article
Short stature in child with early-onset diabetes
We present a girl who initially presented at 12 weeks of age with antibody negative diabetes. Genetic screening for common mutations of monogenic diabetes was negative. She was noted to have short stature at 8...
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Article
1100 Presentation, Clinical and Genetic Outcomes in a Series of Infants with Congenital Hyperinsulinism
Background & aims: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important t...
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Article
1094 BöRjeson - Forssman - Lehmann Syndrome: A Rare But Important Cause of Obesity
Background & Aims: Börjeson - Forssman - Lehmann Syndrome (BFLS) is a rare X-linked condition characterized by obesity and developmental delay. Only nineteen unrelated cases of BFLS, with confirmed PHF6 mutati...
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Article
Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities
Mutations in SLITRK1 are found in patients with Tourette's syndrome and trichotillomania. SLITRK1 encodes a transmembrane protein containing leucine-rich repeats that is produced predominantly in the nervous syst...
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Article
The UK case–control study of cerebral oedema complicating diabetic ketoacidosis in children
Cerebral oedema complicating diabetic ketoacidosis (DKA) remains the major cause of morbidity and mortality in children with type 1 diabetes, but its aetiology remains unknown. Our objective was to determine t...
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Article
Prolonged cardiac repolarisation during spontaneous nocturnal hypoglycaemia in children and adolescents with type 1 diabetes
It has been postulated that hypoglycaemia-related cardiac dysrhythmia and, in particular, prolonged cardiac repolarisation, may contribute to increased mortality rates in children and adolescents with type 1 d...
