ACTA ENDOCRINOLOGICA (BUC)

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.

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.

Aim. The goal was to study immunostaining with Inhibin alpha, Melan- A and MNF 116 in tumors located in the adrenals (benign adrenocortical tumors and metastatic lesions in the adrenal gland) because sometimes pathology cannot distinguish between the two. Patients and Methods. We included 35 patients with benign adrenal tumors and 15 patients with adrenal metastases from nonadrenal tumors submitted to laparoscopic (n=40) or classical (n=10) surgery. In our study we have explored immunostaining with inhibin α-subunit, melan-A, MNF 116 in adrenocortical tumors and metastatic lesions in the adrenal gland in order to make the distinction between primary adrenal cortical lesions and metastatic lesions. Results. All nonsecreting adrenocortical adenomas were stained with inhibin α-subunit and melan-A, but did not stain with MNF 116. All adrenal metastases stained with MNF 116 but were negative for inhibin α-subunit and melan-A with the exception of the 2 melanomas, which stained for melan-A. Conclusion. Inhibin α-subunit and melan-A were sensitive for benign adrenocortical tumors, while MNF 116 was sensitive for metastases from extraadrenal tumors.

In the latest decade, translational medicine has played an important role. In neuroendocrine tumor field, genetic results are associated with clinical and paraclinical disease implications. This translational knowledge allows a faster action in some mutation types with aggressive outcome. In the following pages we will make a review about actualities in translational approach from genetics to clinical neuroendocrinology.

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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. Orbitopathy is a common extrathyroidal feature of Graves’ disease. Initial immune infiltration may be followed by irreversible fibrosis and hypertrophy of extraocular muscles, leading to exophthalmos, diplopia and optic nerve compression. Surgery can improve the quality of life by adapting orbit volume to its content through orbital expansion and/or decompression and through interventions for functional or aesthetical reasons. Aim. To evaluate the impact of orbit surgery on the evolution of Graves’ ophthalmopathy. Patients and Methods. Our series includes 21 patients, operated between 2006 and 2012 mainly for proptosis (16 cases) or diplopia (5 cases). Results. Emergency orbit decompression was performed in one patient in the acute phase due to vision loss, reversible after intervention. Orbital extraconal lipectomy was used in all patients, involving both intraconal and extraconal fat in five cases. Unilateral bone decompression was needed in two interventions. 7 patients developed upper eyelid retraction, treated with botulinum injection in the levator palpebrale. Another patient showed lower lid retraction, elongated with palatal mucosal graft. Conclusion. Adequate surgery should be chosen for each case in an integrated multidisciplinary approach. Both intraorbital fat removal and bone decompression could be concomitantly used in certain patients with severe orbitopathy. Surgery should be performed in stabilized orbitopathy, but emergency intervention might be beneficial in acute onset of vision loss due to optic nerve compression.

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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.