STX1B-related epilepsy in a 24-month-old female infant.

We report on a 24-month-old girl with age-appropriate development and normal intellectual ability suffering from myoclonic astatic epilepsy. Panel-based sequencing of roughly 1500 genes associated with neurodevelopmental and metabolic diseases identified a heterozygous de novo point mutation in STX1B (c.733C>T or p.Arg245*). STX1B encodes Syntaxin-1B which plays a role for synaptic transmission. STX1B variants are associated with a broad phenotypic spectrum of epilepsies including febrile or afebrile seizures as well as epileptic encephalopathies. Our patient with MAE adds to the spectrum of STX1B associated phenotypes.

Reduction of Severe Hypoglycaemia in People with Type 2 Diabetes after a Structured Inpatient Intervention.

OBJECTIVE: The aim of this longitudinal study was to assess outcomes before and one year after participation in a structured inpatient intervention including participation in an education programme for people with type 2 diabetes. METHODS: In 2014, 81 individuals, who were admitted to optimise insulin therapy, participated in a structured inpatient intervention and were invited to participate in a follow-up visit after one year. RESULTS: Seventy participants (46.9% female, age 68.3 y, diabetes duration 17.9 y, HbA1c 9.7%/82.5 mmol/mol) were followed-up after 1.2 y (3 died by non-diabetic causes, 8 declined/were not available). HbA1c decreased by 1.1% (p<0.001) without change of insulin dose (79.7 vs. 79.3 IU, n.s.) or BMI (33.6 vs. 33.8 kg/m2, n.s.). 5 people admitted because of severe hypoglycaemia (one person with 5 episodes and 4 with one episode in the year prior to participation) did not experience another event in the evaluation period, nor did anyone in the rest of the cohort (frequency of severe hypoglycaemia 0.12 events/year before and 0.0 after intervention). CONCLUSIONS: In people admitted for optimising insulin therapy or severe hypoglycaemia, metabolic control improved substantially and frequency of severe hypoglycaemia was significantly reduced after participation in a structured inpatient intervention. Reasons could be motivational and better adapted eating habits, tailoring individual therapy solutions and deescalating diabetes therapy in people after severe hypoglycaemia.

Adequate Structured Inpatient Diabetes Intervention in People With Type 1 Diabetes Improves Metabolic Control and Frequency of Hypoglycaemia.

OBJECTIVE: Several studies evaluated inpatient diabetes teaching and treatment programmes (DTTP) in diabetes type 1 (DM1) many years ago, but in these studies insulin treatment was not yet intensified before the DTTP. Today, most patients are already on intensified insulin treatment before entering a DTTP. The aim of this trial was to evaluate the outcome one year after participation in an inpatient intervention including a DTTP in a longitudinal study. METHODS: 109 patients participated in an inpatient intervention in 2014. All individuals were invited to participate in an outpatient follow-up visit after one year. RESULTS: Ninety participants (52.2% female, age 48.0 y, diabetes duration 19.1 y, 31.1% CSII, HbA1c 7.9% / 63.3 mmol/mol) were followed-up after 1.2±0.3 y [1 died, 18 declined / were not available]. 83 / 90 individuals participated to optimise diabetes therapy, 7 / 90 had newly-diagnosed DM1. In the optimisation group, HbA1c decreased by 0.4% (p=0.009) without change of insulin dose (54 IU/day before and after) or BMI (26 kg/m2 before and after). In people with baseline HbA1c ≥7.5% (n=26 / 83), HbA1c decreased by 0.9%. The frequency of severe hypoglycaemia decreased from 0.22 to 0.05 events / year (p=0.045). In people with frequent non severe hypoglycaemia (n=8), events decreased from 4.5±2.0 to 2.8±0.9 / week (p=0.358). Systolic (-6.5 mmHg, p=0.035) and diastolic (-3.4 mmHg, p=0.003) blood pressure improved without change of number of antihypertensive medication (1.9±2.1 vs. 1.8±2.0, p=0.288). CONCLUSIONS: In people with DM1, metabolic control improved after the inpatient intervention without increasing insulin dosage or BMI. The inpatient intervention remains effective to substantially improve metabolic control under the present circumstances of care.