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.

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Background. Fine needle aspiration biopsy (FNAB) is an important tool in the diagnosis of thyroid nodules. Aim. Our aim was to investigate the malignancy criteria in thyroid nodules by gray-scale ultrasonography (US) and duplex Doppler ultrasonography (DDUS), and their usefulness in reducing the number of unnecessary FNAB’s. Study design. This was a prospective observational study. Subjects and methods. 181 benign and 18 malignant thyroid nodules were evaluated by US and DDUS before FNAB or thyroidectomy. US was used to note size, shape, internal structure, nodule echogenicity, marginal properties, peripheral hypoechogenic halo, and microcalcifications. DDUS studies were used to evaluate the maximum and minimum flow velocity (Vmax and Vmin), systolic/diastolic flow velocity ratio (S/D), pulsatility index (PI), resistive index (RI), acceleration time (AT) and acceleration value. Results. Contour irregularity, size and presence of microcalcifications (p<0.001, p=0.02 and p=0.002, respectively) and S/D, Vmin, PI, RI and AT were significantly different (p=0.004, p=0.007, p=0.032, p=0.003 and p=0.003, respectively) were significant for malignant nodules. Benign and malignant nodules with or without suspicious US findings had similar DDUS findings. Vmax, Vmin, PI, RI, and AT were significantly different in the presence of microcalcification (p=0.043, p=0.001, p=0.031, p=0.04, and p=0.019 respectively). AT was significantly different in the case of absence of microcalcification (p=0.019). Comparing the irregular margins, Vmin, PI and RI were significantly different (p=0.014, p=0.003, and p=0.014 respectively). Conclusion. Benign and malignant thyroid nodules can be differentiated using gray-scale US findings and DDUS based indices together to reduce the number of unnecessary FNAB’s.

Introduction. Vinegar is known with its positive impact on post-prandial dysmetabolism. The aim of this study was to\r\nelucidate the acute effects of high amount vinegar on blood glucose and lipid parameters.\r\nMaterial and Methods. Sixteen type 2 diabetic patients who had been treated with metformin only, were served a\r\nstandardized meal to which 50 g vinegar was added on the first day but not on the second day. Blood glucose, insulin and lipid levels were measured during fasting and at the second hour after intake of the meal.\r\nResults. Postprandial increase in the levels of venous blood glucose measurements was not different in the vinegar group when compared with the reference group (p=0.163). There was no significant difference on postprandial insulinemia (p=0.796). While investigating the effect of the vinegar on postprandial lipemia, no differences in triglyceride\r\nchanges was found between vinegar and reference group (p=0.816).\r\nConclusion. In this study in which we have tried to find an answer to the question about the effect of high amount grape\r\nvinegar on postprandial metabolism, no favorable or deleterious effect on postprandial changes of glycemia and\r\nlipemia was found.

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Introduction. One of the diabetes complications in men is infertility. C-peptide and Nicotinamide have antidiabetic and antioxidant activity. So, the aim of this study was to investigate the effects of these drugs on male infertility caused by diabetes. Methods. In this experimental study 40 adult male NMRI mice (20- 25g) were obtained and randomly divided into 5groups: controls, diabetes model, diabetes+C-peptide, diabetes+Nicotinamide, diabetes+C-peptide+Nicotinamide. Diabetes induced was confirmed 3 days after administration of a single dose of streptozotocin (STZ) (65mg/kg) 15 min after an intraperitoneal injection of Nicotinamide (120mg/kg). Then C-peptide (25nmol/kg) and Nicotinamide (100mg/kg) were injected for 28 days. 24h after the last drugs injection serum samples, testes and cauda epididymis of animals were removed for hormonal, testis morphology and sperm count assessment. Results. Diabetes induced could decrease serum testosterone level and sperm count significantly (p<0.001, p<0.05 respectively). Serum LH, testosterone levels and sperm count increased in Diabetes+Cpeptide+ Nicotinamide versus diabetes group (p<0.05, p<0.001, p<0.01 respectively). Also administration of Nicotinamide alone showed an increase in serum testosterone (p<0.001). Conclusion. The results of this study demonstrated that combined administration of Nicotinamide and C-peptide improved diabetes induced male reproductive disorders by enhanced serum LH, testosterone levels and sperm count in diabetic mice.

Medullary thyroid carcinoma (MTC) arising from aberrant tissue is almost unknown. Our aim is to report our first case.\r\nObservation. A woman, aged 46, was operated on for multinodular goiter with lateral mass considered as a metastasis. Thyroid surgery was well supported. The surgeon discovered a median thyroid which seemed normal, and a lateral mass totally separated from the thyroid. The pathologist who did very thin slices of the whole thyroid excluded the malignancy, but in the lateral tissue, he discovered a typical MTC with positivity to thyrocalcitonin (TCT), chromogranine A, and thyroid transforming factor1 antibodies. That lateral tissue did not contain any thyroid or lymphoid cells. The tumoral tissue was sent to another\r\npathologist who confirmed the diagnosis. In post operative period TCT was normal (mean value=4.5pg/mL, N<13), but urinary metanephrines were slightly increased (1.32\r\nmg/24h, N=1). Radiological explorations (except MIBG scintigraphy not done for low socioeconomic conditions) failed to show any pheochromocytoma. One year later that one was found by CT scan, and our patient was classified as multiple endocrine neoplasm type 2A. Laparoscopic surgery\r\ndone under thiopental and curare was uneventful, histological exam confirmed the pheochromocytoma. Genetic screening for RET proto-oncogene was negative arguing\r\nfor a sporadic case. Conclusion. MTC located in\r\naccessory thyroid is a scientific curiosity which can be mistaken with a lymph node metastasis. In our case a meticulous exam of the median thyroid and the lack of thyroid and lymph cells in the lateral mass were\r\nagainst the metastasis.

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.

Background. Primary hyperparathyroidism (PHPT) is caused most commonly by a solitary adenoma and less commonly by multiglandular hyperplasia of the parathyroid glands (MGD). Minimally invasive parathyroidectomy (MIP) has become a frequently used strategy, but there are limitations to current preoperative localization techniques. Results. We report the case of a patient, 63 years old, female, with clinical and biochemical features of primary hyperparathyroidism (total serum calcium: 10.1mg/dL; PTH: 171pg/mL). Neck ultrasonography (USG) revealed a mixed hypoechoic tumor along the posterior aspect of the left thyroid lobe of 1.54x0.78 cm, being difficult to say if it was intrathyroidal or not. There was only minimal residual uptake in the left thyroid lobe at 4 h on Tc99m sestamibi imaging. She underwent USG-guided fine-needle aspiration (FNA) of the suspected tumor followed by PTH measurement from the needle washing (FNA-PTH). The cytology was non-diagnostic but the level of PTH in the aspirated fluid was 10.000 pg/ mL. The patient underwent an en bloc resection of the left thyroid lobe and the tumor, which was curative, as calcium (8.9 mg/dL) and PTH (25.52 pg/mL) decreased from the first day after surgery. Histopathology of the surgical specimen revealed a left parathyroid adenoma made of chief cells and included in the thyroid capsule together with the entire left thyroid lobe. Conclusion. This case report highlights the importance of FNA-PTH in the localization of functionally parathyroid tissue in difficult cases, where a clear target exists.