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Background: Wolfram Syndrome is a very rare genetic disease causing diabetes mellitus, blindness, deafness, diabetes insipidus, and progressive brainstem degeneration. Neurologic symptoms of affected patients include ataxia, sleep apnea, loss of bladder control, dysphagia, loss of taste, and accompanying psychiatric symptoms as a sign of progressive neurodegeneration. Its genetic cause is mainly biallelic mutations of the Wolframin endoplasmatic reticulum transmembrane glycoprotein gene Wfs1. These result in increased ER stress, which in turn induces apoptosis and leads to the depletion of the corresponding cells and a loss of their physiological functions. Though diabetes mellitus is mostly treated by insulin, there is still no proven cure for the disease in general. It leads to premature death in affected individuals—usually within the 4th decade of live. Current research and treatment trials: Clinical studies are currently being conducted at various locations worldwide to test a therapy for the disease using various approaches. Potentail of virtual netowrking: As rare diseases in general represent a major challenge for individual clinicians and researchers due to the rarity of diagnosis, the lack of evidence and of value of existing research, international cooperation, coordination and networking leading to an alignment of different stakeholders is necessary to support patients and increase knowledge about these diseases, like wolfram syndrome. Conclusion: ENDO-ERN and EURRECA are two EU-funded networks that aim to promote knowledge sharing, education and research on rare endocrine diseases.

Aim:To investigate whether autoimmune thyroiditis (AIT) in children with type 1 diabetes mellitus (DM1) has any influence on glycemic control, lipid profile or thyroid volume.

Background: This study was designed to provide information regarding basal and bolus insulin dosage in children and adolescents using continuous subcutaneous insulin infusion (CSII) and to evaluate the safety and efficacy of the CSII method in youths.Patients and Methods: Data from 100 patients (1.6–18 years old) were collected during scheduled visits in an outpatient clinic. The mean duration of diabetes was 4.57 years (range 0.6–16 years), and mean duration of CSII therapy was 1.75 years (range 0.5–3.0 years). Each child had his or her insulin doses reviewed using the Medtronic MiniMed (Northridge, CA) Pumps&Meters software program. At each visit glycosylated hemoglobin (HbA1c) values and growth parameters (weight and height) were assessed, and episodes of severe hypoglycemia and ketoacidosis were recorded.Results: The mean HbA1c value in our study group was 7.63 ± 0.09% (range, 5.15–12.5%). Statistically significant better metabolic control was found in children under 10 years of age, in children with lower body mass index (r = 0.33), in patients with a lower contribution of basal insulin to the total daily dose (r = 0.35; P < 0.05), and in boys. Ten percent of participants skipped mealtime boluses, which correlated with their glycemic control; in those children HbA1c was 8.67 ± 0.57% (r = 0.34; P < 0.05). The mean total daily insulin was 0.79 ± 0.02 U/kg/day (range, 0.3–2.0 U/kg/day). Basal insulin constituted on average 35.6 ± 1.1% (5–70%) of the daily insulin dose. We found a statistically significant higher contribution of basal insulin dose in patients who missed mealtime boluses (r = 0.42; P < 0.05) and a significantly lower contribution in pre-pubertal children and in boys (P < 0.05). Around 7% of patients made mistakes in programming the basal insulin.Conclusions: CSII may be safely and efficiently used in children with type 1 diabetes in different age groups. This method of treatment requires regular visits to an outpatient clinic, proper education, and frequent revisions of the pump's memory.