ACTA ENDOCRINOLOGICA (BUC)

Context. Identification of CV risk factors from T2DM diagnosis allows optimization of treatment to prevent CV complications and death. Objective. The primary objective of the study was to describe the CV risk factors in patients with T2DM at the time of diagnosis and/or therapeutic specific measures taken. Design. This was a non-interventional, multicenter, retrospective chart review of newly diagnosed patients with T2DM in 49 study centers in Romania. Subjects and Methods. Adults with a diagnosis of T2DM between January - December 2014. Statistical analysis used appropriate descriptive methods. Results. 1218 patients were included, mean age (SD) at diagnosis was 59.16 (10.87) years. Half of the patients (54%) presented obesity and 47.7% of patients had arterial hypertension. Overall, 76.2% of subjects had LDLcholesterol ≥ 100 mg/dL, and 59.1% had triglycerides ≥ 150 mg/dL. The mean glycemia was 198.8 mg/dL (78.3) and 50.2% of patients had HbA1c ≥7%. Sedentary lifestyle in 73.8% of the cases, and 91.3% unhealthy eating habits reported. In addition to diet, 82.2% of patients received antidiabetes treatment, 62.6% lipid-lowering, and 66.6% antihypertensive medication. Conclusion. This retrospective study showed a high prevalence of CV risk factors and/or established CV disease at the time of T2DM diagnosis in Romania.

Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.