A Case of Neonatal Central Diabetes Insipidus in a Premature Infant - Challenges in Diagnosis and Management

Case Reports Journal21United State

Engineering the Gut Microbiome for Treatment of Obesity: A Review of Current Understanding and Progress

10.1002/biot.202000013BIOTECHNOLOGY JOURNAL151

A Case of Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) in a Girl with Newly Diagnosed Hashimoto Thyroiditis

90636-63

Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia

10.1530/EDM-16-0043ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS201

Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia

Hyperinsulinaemic hypoglycaemia (HH), which causes persistent neonatal hypoglycaemia, can result in neurological damage and it’s management is challenging. Diazoxide is the first-line treatment, albeit not all patients will fully respond to it, as episodes of hypoglycaemia may persist and it entails unpleasant adverse effects. Sirolimus, an mTOR inhibitor, has reportedly been successful in treating children with severe diffuse HH, thus obviating the need for pancreatectomy. We report a girl with HH, with a novel heterozygous ABCC8 gene missense mutation (c.4154A>T/ p.Lys1385Thr), who was initially responsive to diazoxide therapy. After 11 months of diazoxide treatment, she developed intermittent, unpredictable breakthrough episodes of hypoglycaemia, in addition to generalized hypertrichosis and weight gain from enforced feeding to avoid hypoglycaemia. Sirolimus, which was commenced at 15 months of age, gradually replaced diazoxide, with significant reduction and abolition of hypoglycaemia. The hypertrichosis resolved and there was less weight gain given the reduced need for enforced feeding. Sirolimus, which was administered over the next 15 months, was well tolerated with no significant side effects and was gradually weaned off. After stopping sirolimus, apart from hypoglycaemia developing during an episode of severe viral gastroenteritis, the capillary glucose concentrations were maintained >3.5 mmol/L, even after a 10 h fast. Sirolimus may have a role in the treatment of partially diazoxide-responsive forms of HH who experience breakthrough hypoglycaemia, but the long-term safety and efficacy of sirolimus are not established

A case of Cushing syndrome in a Wilms' tumour

91501-50

Engineering microbes for targeted strikes against human pathogens

10.1007/s00018-018-2827-7CELLULAR AND MOLECULAR LIFE SCIENCES75152719-273

Metabolic Complications after Paediatric Liver Transplantation: A 10-year Longitudinal Study in a South-East Asian Population

91148-14