ACTA ENDOCRINOLOGICA (BUC)

We studied the incidence, risk factors, presentation, treatment and prognosis of calcific uremic arteriolopathy (CUA) in 140 of our hemodialysis patients. Methods. Patients with CUA in the past 3 years have been compared to controls in a cross-sectional survey of 140 hemodialysis patients. Results. Prevalence of CUA was 6/140 (4.28%); common presentation was ulcerated acral necrosis. Age, sex ratio, BMI, prevalence of diabetes were similar in case (n=6) and control (n=134) patients. CUA patients had higher serum calcium (9.58?1.25 mg/dL vs. 8.50?1.03 mg/dL, p=0.01), calcium-phosphate product (71.06?19.67 mg2/dL2 vs. 58.73?17.20 mg2/dL2, p=0.01) and parathormone levels (1854?1407 pg/mL vs. 654?776 pg/mL, p=0.0002). Differences in ingestion of calcium, active vitamin D and non-calcium containing phosphate binders in the year prior to the assessment were not significant. CUA patients had higher CRP values in the 6 preceding months than non CUA patients (6.61?9.68 mg/dL vs. 1.97?4.20 mg/dL, p=0.01); logistic regression disclosed CRP as the only predictive factor for CUA (p=0.03). 4 (66%) of the CUA patients died due to sepsis, as compared to 3(2.23%) of the control group (p=0.001). 2 of 3 parathyroidectomised patients survived. In conclusion, this is, to our knowledge, the first series of CUA reported from Eastern Europe. In our center acral, ulcerated forms of CUA in patients with severe hyperparathyroidism are predominant.

Introduction. The determination of phenylalanine (Phe) and tyrosine (Tyr) levels in blood plasma is very important not only in early diagnostic, but also in monitoring the treatment of phenylketonuria (PKU). Purpose. We present a simple, sensitive and accurate procedure to determine simultaneously the plasma concentrations of Phe and Tyr. Procedure. The measurement involves two steps: a) separation of plasma (from blood prelevated on heparin), isolation and preparation of a concentrated solution of amino acids (by ion-exchange column chromatography on Dowex- 50X8), and b) determination of Phe and Tyr concentrations in the solution of amino acids by HPLC (using a Dionex Ultimate 3000 instrument equipped with a diode array detector). The analytical column was a Thermo Scientific Acclaim 120, C18, 5 μm Analitic (4.6 x 250 mm), coupled with an Acclaim C18 guard column. The values of Phe and Tyr concentrations in plasma of several patients were calculated using a calibration curve made with standards of Phe (1834.4 μmol/L in deionized water) and Tyr (600 μmol/L in deionized water). Concentrations as low as 24 μmol/dL of Phe and 15 μmol/dL of Tyr could be determined. Conclusion. The whole procedure presented here is relatively simple, rather inexpensive, however very sensitive and accurate. Consequently, it is very adequate for confirming the diagnosis of PKU in patients with neonatal hyperphenylalaninemia, as well as for monitoring the plasma concentrations of Phe and Tyr in patients with PKU.

Background and aims. Increased fat accumulation associated to increased cardiometabolic risk factors is a prominent feature of type 2 diabetes. In type 1 diabetes, increased fat accumulation is not prevalent and its metabolic impact has not been fully evaluated. We aimed to evaluate differences in body composition, clinical and metabolic\r\nprofile in type 1 and type 2 diabetes patients with varying degrees of adiposity.\r\nMaterials and methods. Clinical, biochemical and body composition data (using a bioelectric impedance analyzer) from 96 type 1 and 253 type 2 adult diabetes patients have\r\nbeen collected.\r\nResults. In type 1 patients estimated visceral fat area (eVFA) increased significantly (84.3?27.9 vs. 103.0?27.9 vs. 128.1?29.1 cm2, p=0.006, 0.003, and <0.001) while BMI, body fat mass (BFM) did not differ across age tertiles. Between normal weight (BMI<25 kg/m2) and overweight (BMI>25 kg/m2) type 1 patients there were no significant differences either in triglycerides (128.7?135.6 vs. 92.8?50.6 mg/dl, p=0.1), HDL-cholesterol (53.6?15.9 vs.\r\n52.3?13.7 mg/dl, p=0.6) and uric acid levels (3.4?2.0 vs. 2.9?1.2 mg/dl, p=0.2), or in hypertension (39.5% vs. 40.0%, p=0.7) and nonalcoholic hepatosteatosis (NASH) (10.0% vs.\r\n10.5%, p=0.6) prevalences. In type 2 patients, BMI (32.3?5.9 vs. 29.5?5.1 vs. 27.9?5.0 kg/m2, p=0.001, p=0.04, p<0.001) and BFM (34.5?12.7 vs. 29.6?10.2 vs. 27.1?10.8 kg, p=0.007, p=0.11, p <0.001) decreased, while eVFA did not differ across age tertiles, suggesting that older age increases central fat distribution. Compared to normal weight, overweight type 2 diabetes patients had greater triglycerides (218.8?303.4 vs. 110.9?44.9 mg/dl, p=0.01), uric acid (4.5?2.4 vs. 3.3?1.4 mg/dl, p=0.01), and lower HDL-cholesterol (43.9?12.9 vs. 54.1?15.4 mg/dl, p<0.001) serum levels, and higher prevalences of hypertension (71.8% vs. 39.4%, p=0.005) and NASH (59.1% vs. 25.0%, p=0.005).\r\nConclusion. Visceral fat accumulation is associated with older age in both types of diabetes, but only in type 2 diabetes is associated with cardiometabolic anomalies.

Background. The modern management of phenylketonuria (PKU) consists of generalized newborn screening (NBS) for hyperphenylalaninemia (HPA), confirmation of HPA in children detected in the NBS, introduction of dietary treatment in the first weeks of life, followed by monitoring the treatment of PKU for decades to maintain phenylalaninemia within the limits that will not affect the brain. The present study aimed to evaluate the usefulness of two chromatographic methodologies for determination of plasma Phe level in the routine management of PKU: the two dimensional thin layer chromatography (2D - TLC) and the high performance liquid chromatography (HPLC) procedures, respectively. Material and Methods. Samples of blood from 23 children with HPA detected by neonatal screening or with confirmed PKU who received treatment by low-Phe diet were analyzed to estimate the plasma Phe level by the two chromatographic procedures. Results. In case of three subjects the very low concentrations of plasma Phe could not be detected by the 2D - TLC methodology, since the spot was not visible on the chromatogram. In four patients the differences between the values of plasma Phe determined by the two methodologies are not statistically significant, while in fifteen subjects the differences are highly statistically significant. This is due to the greater errors that appear in the case of 2D - TLC methodology. In the range of concentrations of plasma Phe higher than 360 μmol/L (which is the cut-off value for HPA), although in four cases there were statistically significant differences in the level of plasma Phe determined by the two methodologies, the value obtained by the 2D - TLC methodology was high enough to influence the decision of changing the diet so that HPA is kept under control. In addition, the intense spot of Phe on the 2D - TLC chromatogram may be detected even by un unexperienced laboratory specialist. Conclusion. The HPLC procedure for measurement of plasma Phe level is very suitable to be used in the routine management of PKU. The 2D - TLC procedure may be accompanied by relatively high errors; however, it detects patients with severe PKU.

Developments in the understanding of the molecular basis of water permeability of the red blood cell (RBC) have taken place rapidly since the discovery in 1985 in Cluj- Napoca, Romania, by the group of Benga of a water channel protein (WCP), later called aquaporin 1 (AQP1), in the RBC membrane. However, the physiological role of AQP1 is not yet fully understood. Investigations of RBCs from human subjects of various ages could help shed light on this important issue. We present a short review of our studies on this topic that were published in less “visible” journals and books. The diffusional water permeability (Pd) of the RBC membrane has the lowest values in the newborns. Then Pd values are increasing in children, reaching at about 7 years a value that remains rather constant in young and mature subjects. The high permeability to water of the RBC membrane can be correlated at these ages with the ability to undertake a high level of physical activity. In elderly individuals (over 65 years) a further small, but statistically significant, increase in the diffusional water permeability of RBC was observed. In this case the higher RBC water permeability can be correlated with a requirement of the RBC membrane to favour the membrane undulations and the rapid entry or exit of solutes of molecular size greater than water, in conditions when the organism is less physically active, probably has lower metabolic rates and lower mean rates of blood circulation.