ACTA ENDOCRINOLOGICA (BUC)

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.

The anaesthetic management of pheochromocytoma is complicated and challenging. However, preoperative pharmacologic preparation, modern anaesthetic techniques and drugs associated with advanced monitoring in conjunction with the evolution of surgical techniques (open laparotomy to laparoscopic surgery and robotic approaches in the present day) improved significantly perioperative outcome, and intraoperative and postoperative hemodynamic stability. Although there are not randomised clinical trials to suggest one approach over another and there is a high international variability amongst intraoperative anaesthetic techniques, most management principles are still universal.

The role of osteocalcin in atherogenesis is unclear. We investigated the association between osteocalcin and carotid atherosclerosis in Chinese middle-aged and elderly male adults and further determined whether osteocalcin is independently associated with the carotid intima-media thickness (CIMT) in hyperglycemia subgroups. Subjects and methods. A total of 84 male participants (mean age, 59.13 years) were enrolled in groups of normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (T2DM) according to the oral glucose tolerance test. A standard interview, anthropometric measurements and laboratory analyses were performed for each participant. Bilateral carotid intima–media thicknesses (CIMT) were measured using ultrasonography. The circulating osteocalcin was measured using quantitative enzyme immunoassay. Results. Both IGT and newly diagnosed T2DM groups had significantly lower osteocalcin levels compared with the NGT group (5.01 ± 0.68 μg/L, and 6.173 ± 0.68 ng/mL vs. 11.55 ± 0.57 μg/L, respectively). Multivariate linear stepwise regression analysis demonstrated that waisthip ratio(WHR) (standardized β = -0.408, P = 0.000), 2 hour plasma glucose after glucose load, (PPG) (standardized β = -0.235, P = 0.025), homeostasis model of assessment for insulin resistance index(HOMA-IR) (standardized β = -0.287, P = 0.004), and Glycosylated haemoglobin (HbA1c) (standardized β = -0.250, P = 0.015) were independently and inversely associated with serum osteocalcin in hyperglycemia subgroups; PPG(standardized β = -0.476, P = 0.015), osteocalcin(standardized β = -0.486, P = 0.001) were negatively associated with CIMT, while TG (standardized β = 0.647, P = 0.000) was positively associated with CIMT in T2DM. Conclusion. These results showed that osteocalcin is independently associated with carotid atherosclerosis in men with T2DM. It is tempting to suggest that osteocalcin may be implicated atherosclerosis.

Thyroid carcinomas associated with Graves? ophthalmopathy had been described in the literature, before. The rate of this coincidence is 1.1% - 7.1%. Papillary carcinoma is more common than thyroid cancer in Graves? disease. Herein, we present a 37-year-old male Graves? disease patient with thyroid papillary carcinoma.

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Context. Regular training program is recognized to play a key role in chronic low-grade inflammation in obese patients. Objective. The aim of this study was to evaluate the effects of a continued aerobic training on serum Interleukine-10 (IL-10) as anti-inflammatory cytokine in obese women. Subjects and Methods. Thirty non-trained obese women aged 30-40 years with BMI 30-36 (kg/m2) participated in the study and divided into exercise (n=15) and control groups. Exercise subjects completed a 6 weeks aerobic training at 60-75% of heart rate max and continued to 12 weeks. Anthropometrical markers and fasting blood samples were collected of all subjects at pre, mid (6 weeks) and post training (12 weeks) for measuring serum IL-10. Data were analyzed using repeated measures ANOVA. Significance was accepted at P<0.05. Results. At baseline (pre training), there were no differences in the age, body weight and other anthropometrical indexes also in serum IL-10 between the two groups (p>0.05). Six and 12 weeks of aerobic training resulted in a significant decrease in body weight and other anthropometrical indexes and a significant increase in IL-10 compared to baseline (p<0.05). No significant difference was observed in serum IL-10 between 6 and 12 weeks aerobic training (p=0.361). There were no changes in all variables in the Control group (p>0.05). Conclusion. Based on this data we concluded that anti-inflammatory effects of long term aerobic training can be attributed in part to IL-10 but further studies over other markers of inflammatory profile are necessary in order to sustain the anti-inflammatory effect of aerobic training.

Bardet Biedl syndrome (BBS) is a rare autosomal recessive disease, characterized by clinical and genetic heterogeneity. Many genes are involved. BBS seems to be\r\ndifferent from Lawrence Moon BBS, although they share some clinical symptoms. The main clinical signs are obesity, pigmentary retinopathy, kidney malformations, and hypogenitalism. Our aim is to report a case with typical\r\nretinis pigmentosa, hypergonadotrophic hypogonadism and cerebellum cyst. Case report. A man aged 18 was referred for obesity and blindness. His family history was marked by obesity and diabetes mellitus type II. His medical history began very soon, as he was born with polydactyly, then he became obese and had difficulty to learn and to see. His blindness was progressive, and his puberty was delayed.\r\nClinical and biological exams showed: severe android obesity (BMI = 40kg/m?, waist circumference = 130cm), pigmentary\r\nretinopathy, small testes with high FSH = 17 mU/mL (1-8), and normal LH = 6.13 mU/mL (0.6-12)], empty sellae, cerebellum cyst, renal malformations, and signs of chronic infections. He did not have any spasticity or ataxia.\r\nGenetic study was not done. Conclusion. In this case, all features argued for typical BBS, except for testicular\r\ninsufficiency which is classically described as hypogonadotrophic. Infections should be treated vigorously to avoid renal insufficiency.

Obesity involves both genetic and environmentl influences, but the mechanisms of the genetic effects are not well understood.\r\nObjective. The aims of the study were to investigate the frequency of perilipin gene polymorphism in order to identify the relationship between insulin resistance and gene polymorphism in obese women.\r\nSubjects and methods. Study population included 31 obese women and 10 women with normal weight as a control group. All of the entire coding exons of PLIN gene were amplified by polymerase chain reaction (PCR). Insulin resistance (IR) was estimated using the homeostasis model assessment (HOMA-IR).\r\nResults. In the obese group, 29 (93.6%) patients were homozygous and 1 patients (3.2%) was heterozygous for the c.580C>.G (p.Pro194A1a)(rs. 6496589) mutation and 1 patient (3.2%) was Pro194A1a. Homozygous. Val156Leu. Heterozygous mutation at exon 5 at PLIN gene (p=0.072). As for exon 8 at PLIN gene in obese group, 6 patients (19.3%) had heterozygous for the c.1113T>C (Pro371Pro) (rs2304796) mutation, and 12 patients (38.7%) had heterozygous for the c.1113T>C and c.1119C>T (p. Val373Val) (rs2304795) mutation, and 4 patients (12.9%) had homozygous for the c.113T>C and c.1119C>T mutatons (p=0.009). In obese patients with no nucleotide substitution at exon 8, mean levels of systolic and diastolic blood pressures were higher than those of obese subjects with gene polymorphism. However, there were no statistically significant differences for HOMA-IR levels between obese women with and without perilipin gene polymorphism.\r\nConclusions: Perilipin gene polymorphisms such as heterozygous and homozygous for the c.1113T>C and c. 1119C>T (rs2304795) at exon 8 were associated with obesity risk. However, no relationship was found between insulin resistance and polymorphisms of perilipin gene in obese women.