Metabolic Treatment of Wolfram Syndrome.

Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an early state and may be diagnosed after diabetes' onset. Prognosis is poor, and the death occurs at the median age of 39 years as a consequence of progressive respiratory impairment, secondary to brain atrophy and neurological failure. The aim of this paper is the description of the metabolic treatment of the WS. We reported the experience of long treatment in patients with this syndrome diagnosed in pediatric age and followed also in adult age. It is known that there is a correlation between metabolic control of diabetes, the onset of other associated symptoms, and the progression of the neurodegenerative alterations. Therefore, a multidisciplinary approach is necessary in order to prevent, treat and carefully monitor all the comorbidities that may occur. An extensive understanding of WS from pathophysiology to novel possible therapy is fundamental and further studies are needed to better manage this devastating disease and to guarantee to patients a better quality of life and a longer life expectancy.

Demystifying the Pizza Bolus: The Effect of Dough Fermentation on Glycemic Response-A Sensor-Augmented Pump Intervention Trial in Children with Type 1 Diabetes Mellitus.

Background: Glycemia following pizza consumption is typically managed with a dual-wave insulin bolus. This study evaluated the effect of a simple bolus on glycemia following consumption of traditionally prepared pizzas with long (24 h) or short (8 h) dough fermentation periods. Research Design and Methods: On two separate evenings, children with type 1 diabetes (n = 38) receiving sensor-integrated pump therapy consumed traditionally prepared pizza with either short (pizza A) or long (pizza B) dough fermentation, and blood glucose was monitored over 11 h. A simple insulin bolus was administered 15 min preprandially. The carbohydrate and amino acid contents of the two types of pizza were analyzed by liquid chromatography and high-resolution mass spectrometry (LC-HRMS). Results: The mean (±standard deviation) time in range 3.9-10.0 mmol/L was 73.2% ± 23.2%, and 50.8% ± 26.7% of glucose measurements were within the range 3.9-7.8 mmol/L. However, during the 2 h after bolus administration, the mean time in range 3.9-7.8 mmol/L was significantly greater with pizza B than with pizza A (73.3% ± 31.5% vs. 51.8% ± 37.4%, respectively, P = 0.009), and the time in hyperglycemia (>10 mmol/L) was significantly shorter (mean percentage 6.1% ± 19.0% vs. 17.7% ± 29.8%, respectively, P = 0.019). LC-HRMS analysis showed that long fermentation was associated with a lower carbohydrate content in the pizza, and a higher amino acid content. Conclusions: Glycemia following consumption of traditionally prepared pizza can be managed using a simple bolus 15 min before eating. Glycemic control can be further improved by increasing the dough fermentation time. Study registration: NCT03748251, Clinicaltrials.gov.