ACTA ENDOCRINOLOGICA (BUC)

Context. Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes. Objective. The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort. Design. The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center. Subjects and Methods. Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007. Results. One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 “hot and warm” of unknown significance variants were found in fourteen MODY and fifteen non- MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases. Conclusions. Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.

Aim. Histology and cytology consultations of thyroid fine needle aspiration biopsy (FNAB) of thyroidectomy specimens can change management of the patient. We aimed to determine compliance rates of pathology results between urban centers and a tertiary institution and its impact on patient management.\r\nMethods. This retrospective study includes 101 patients, who were referred to our center, between January 2008 and December 2008. After admission, all FNAB or thyroidectomy specimens of patients managed elsewhere were consulted by the pathology department. Comparison of FNAB and histology reports of our institution and the medical centers elsewhere had been carried out.\r\nResults. A total of 76% concordance rate was found between the FNAB results of other centers and consultation results. The highest concordance was observed in the malignant cytology group (77%). The cytological or histological outcomes of 24 (23.7%) patients were interpreted differently. After second opinion, patient management\r\nchanged in 21 of the 101 patients.\r\nConclusion. Since FNAB results can change the type of surgical treatment and the management plan, the results especially reported as suspicious may need a second\r\nopinion. We suggest that cytology or histology results of thyroid patients referred to tertiary centers for further evaluation and treatment should always be reviewed.

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.

Objective. This study was undertaken to examine prognostic factors in patients with pancreatic neuroendocrine tumors (PNET) undergoing surgical treatment to evaluate the prognostic value of recently introduced immunohistochemical staining methods of CD10 and cytokeratin 19. Materials and Methods. Tumors were classified on the basis of 2004 WHO Classification Guidelines and European Neuroendocrine Tumor\r\nSociety (ENETS) grading system. Immunohistochemical staining with Ki- 67, CD10 and cytokeratin 19 was performed. Results. A total of 36 patients with a mean age of 53.7 ? 12.0 years were included. Overall, 33 patients had a long-term follow-up with 10 patients (30.3%) experiencing recurrence. Seven\r\npatients (21.1%) died. Clinical parameters that were associated with recurrence included liver metastasis at the time of surgery and extra-pancreatic invasion (p < 0.005). Positive surgical margins, extra-pancreatic invasion, and multi-focal disease were associated with reduced survival (p < 0.05). In addition, there was an association between\r\nsurvival and WHO 2004 classification (p < 0.05).\r\nConclusions. Although vascular and peripancreatic invasion showed increased risk of recurrence, they were unrelated to survival. Of the histopathological examinations, Ki-67\r\nand mitotic activity showed a correlation with both recurrence and survival, while immunohistochemical\r\nstaining with cytokeratin 19 and CD 10 did not provide adequate prognostic information.