{"title":"IS CONFIRMATION OF PARATHYROID TISSUE BY FROZEN SECTION SUPERIOR TO LOCALIZATION OF SOLITARY PARATHYROID ADENOMA USING INTRAOPERATIVE GAMMA PROBE SURVEY? A RETROSPECTIVE COHORT STUDY.","authors":"M Oner, N A Hacim","doi":"10.4183/aeb.2022.452","DOIUrl":"10.4183/aeb.2022.452","url":null,"abstract":"<p><strong>Context: </strong>In the surgical treatment of primary hyperparathyroidism, intraoperative localization of the diseased glands is an essential issue. We aimed to evaluate the impact of the intraoperative frozen section during radio-guided focused parathyroidectomy and compare its efficiency with intraoperative gamma probe survey and measurement of intraoperative quick parathyroid hormone.</p><p><strong>Methods: </strong>All consecutive patients underwent radio-guided focused parathyroidectomy for primary hyperparathyroidism due to solitary parathyroid adenoma. The outcomes of parathyroidectomy were evaluated by serum levels of calcium and parathyroid hormone. The primary outcome was the surgical cure diagnosed by normal serum calcium levels in the sixth postoperative month.</p><p><strong>Results: </strong>A total of 55 patients with a mean age of 54.3±12.2 years were evaluated. The diagnostic accuracy of the preoperative localization tests was calculated as 92.7%. The intraoperative gamma probe survey impacted the operative plans of four patients (7.3%) by localizing the diseased gland in other positions. The accuracy of intraoperative quick parathyroid hormone and frozen section analysis was 100% for both. In all patients, serum calcium and PTH levels dropped to normal in the sixth postoperative month. There were no cases of the persistent or recurrent disease during the follow-up period.</p><p><strong>Conclusion: </strong>The results of the intraoperative gamma probe survey, intraoperative quick parathyroid hormone, and frozen section were concordant with the final pathology in all cases. In four patients (7.3%), intraoperative gamma probe survey impacted the operative plans. The intraoperative gamma probe survey may be used as the sole intraoperative method to locate the correct position of the solitary parathyroid adenoma.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162819/pdf/aeb-18-452.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9430792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"THE MANAGEMENT OF REPETITIVE SUBACUTE THYROIDITIS IN A MALE PATIENT HAVING HLA-B35:01 AND B41:02 ALLELES.","authors":"S Hepşen, H Saat, P Akhanli, E Cakal","doi":"10.4183/aeb.2022.512","DOIUrl":"10.4183/aeb.2022.512","url":null,"abstract":"<p><strong>Context: </strong>Subacute thyroiditis (SAT) is an inflammatory disease of the thyroid gland and commonly affects females. Despite adequate treatment, the recurrence of SAT can be seen in some patients. Although there is insufficient data about the reasons for recurrences, HLA predisposition is one of the reasons thought to be responsible and is a current issue for clinicians.</p><p><strong>Objective: </strong>This case report presented the management of 7 SAT attacks of a patient who had HLA-B35:01 and B41:02 alleles in the genotype analysis.</p><p><strong>Case report: </strong>A 37-year-old male patient who had consecutive 7 SAT attacks was presented in this report. Corticosteroid or non-steroidal anti-inflammatory drugs were initiated at each recurrence depending on the severity of clinical symptoms and laboratory findings. The genotype analysis showed the positivity for HLA-B35:01 and B41:02 alleles. The anti-thyroglobulin antibody was detected positive after the last attack. The patient was followed up as asymptomatic and euthyroid in the third month after the last attack.</p><p><strong>Results: </strong>The management of some SAT cases may be challenging for clinicians. Although recurrence can be seen despite adequate treatment, repetitive seven attacks are extraordinary in SAT. HLA genotyping showed co-occurrence of HLA-B35:01 and B41:02 alleles in our patient. The co-occurrence of these alleles has been described firstly in this case. Explaining high recurrence rates of SAT with these HLA alleles is difficult, though the present case may shed light on further studies.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162824/pdf/aeb-18-512.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9432561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
V E Radoi, L G Pop, O V Maioru, A Dan, M Riza, M A Novac, D Sabau, J H Kim, Y J Song, L C Bohiltea
{"title":"CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS.","authors":"V E Radoi, L G Pop, O V Maioru, A Dan, M Riza, M A Novac, D Sabau, J H Kim, Y J Song, L C Bohiltea","doi":"10.4183/aeb.2022.541","DOIUrl":"10.4183/aeb.2022.541","url":null,"abstract":"","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162813/pdf/aeb-18-541.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9432558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B Virgolici, M Mohora, H M Virgolici, M Posea, R E Martin
{"title":"HEMATOLOGICAL INDICES RELATED TO VITAMIN D DEFICIENCY IN OBESE CHILDREN.","authors":"B Virgolici, M Mohora, H M Virgolici, M Posea, R E Martin","doi":"10.4183/aeb.2022.488","DOIUrl":"10.4183/aeb.2022.488","url":null,"abstract":"<p><strong>Introduction: </strong>Vitamin D is involved in differentiation and induction of erythropoiesis in bone marrow cells.</p><p><strong>Aim: </strong>We compared the serum 25(OH) vitamin D level in obese children <i>versus</i> control and found correlations between vitamin D level and hematological indices in obese children.</p><p><strong>Materials and methods: </strong>25 overweight and obese patients and 15 normal weight children were enrolled in an observational study .</p><p><strong>Results: </strong>In obese children, the serum level of 25(OH) vitamin D was significantly (p<0.04) lower (20.60 ng/mL) compared with the value from normal weight ones (25.63 ng/mL) and the body fat percentage BFP was higher. We found a positive correlation (r=0.44, p<0.05) between serum vitamin D and hemoglobin level and a negative one between serum vitamin D and the number of platelets (r= -0.43, p<0.05). Also, the serum iron was at the lower normal limit in the obese children and negatively correlated with the percent of the body fat (r= -0,62, p<0.05).</p><p><strong>Conclusion: </strong>Obese children have vitamin D deficiency. The hemoglobin level and the number of platelets are correlated with the serum level of 25(OH) vitamin D. Supplements with vitamin D may have pleiotropic effects, including those on bone marrow activity.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162821/pdf/aeb-18-488.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9432565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M C Unal, G Güngör Semiz, O Ozdoğan, C Altay, E Caliskan Yildirim, H S Semiz, A Comlekci, B Akinci
{"title":"NIVOLUMAB ASSOCIATED ENDOCRINE ABNORMALITIES: CHALLENGING CASES FROM A REFERENCE CLINIC.","authors":"M C Unal, G Güngör Semiz, O Ozdoğan, C Altay, E Caliskan Yildirim, H S Semiz, A Comlekci, B Akinci","doi":"10.4183/aeb.2022.516","DOIUrl":"10.4183/aeb.2022.516","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitors (ICIs) have revolutionized the treatment of advanced cancers. Antibodies directed against programmed cell death receptor 1 (PD-1) interrupt the ability of the cancerous cell to depress the immune system.</p><p><strong>Methods and results: </strong>We report three patients who developed different endocrine abnormalities after treatment with nivolumab, a monoclonal antibody directed against PD-1. First, we report a 76-year-old male presenting with generalized fat loss after treatment with nivolumab which predominantly affected his face and trunk. Second, we described the development of thyroiditis that presented with thyrotoxicosis and the expression of thyroid-stimulating hormone receptor antibodies (TRAb). Finally, we observed the emergence of adrenal insufficiency due to hypophysitis in another case.</p><p><strong>Conclusion: </strong>Although immune checkpoint inhibitors are an effective anticancer treatment modality, adverse effects are evident that can affect the endocrine system. These adverse events may relate to different endocrine systems that include the thyroid and pituitary glands. Also, acquired generalized lipodystrophy should be suspected in patients developing unusual fat loss after treatment with ICIs.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162826/pdf/aeb-18-516.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9436044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
W J Lu, Y R Qiu, Y W Wu, J Li, R Chen, S N Chen, Y Y Lin, L Y OuYang, J Y Chen, F Chen, S D Qiu
{"title":"RADIOMICS BASED ON TWO-DIMENSIONAL AND THREE-DIMENSIONAL ULTRASOUND FOR EXTRATHYROIDAL EXTENSION FEATURE PREDICTION IN PAPILLARY THYROID CARCINOMA.","authors":"W J Lu, Y R Qiu, Y W Wu, J Li, R Chen, S N Chen, Y Y Lin, L Y OuYang, J Y Chen, F Chen, S D Qiu","doi":"10.4183/aeb.2022.407","DOIUrl":"10.4183/aeb.2022.407","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate the diagnostic performance of radiomics features of two-dimensional (2D) and three-dimensional (3D) ultrasound (US) in predicting extrathyroidal extension (ETE) status in papillary thyroid carcinoma (PTC).</p><p><strong>Patients and methods: </strong>2D and 3D thyroid ultrasound images of 72 PTC patients confirmed by pathology were retrospectively analyzed. The patients were assigned to ETE and non-ETE. The regions of interest (ROIs) were obtained manually. From these images, a larger number of radiomic features were automatically extracted. Lastly, the diagnostic abilities of the radiomics models and a radiologist were evaluated using receiver operating characteristic (ROC) analysis. We extracted 1693 texture features firstly.</p><p><strong>Results: </strong>The area under the ROC curve (AUC) of the radiologist was 0.65. For 2D US, the mean AUC of the three classifiers separately were: 0.744 for logistic regression (LR), 0.694 for multilayer perceptron (MLP), 0.733 for support vector machines (SVM). For 3D US they were 0.876 for LR, 0.825 for MLP, 0.867 for SVM. The diagnostic efficiency of the radiomics was better than radiologist. The LR model had favorable discriminate performance with higher area under the curve.</p><p><strong>Conclusion: </strong>Radiomics based on US image had the potential to preoperatively predict ETE. Radiomics based on 3D US images presented more advantages over radiomics based on 2D US images and radiologist.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162833/pdf/aeb-18-407.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9423583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"AMINO ACIDS METABOLOMIC SIGNATURE OF BLOOD PRESSURE VARIABILITY In Type 2 Diabetes.","authors":"D M Ciobanu, C Bala, A Rusu, G Roman","doi":"10.4183/aeb.2022.494","DOIUrl":"10.4183/aeb.2022.494","url":null,"abstract":"<p><strong>Context: </strong>Accumulating data supports the key role of disrupted amino acids (AAs) metabolism in diabetes. Conflicting data regarding the relevance of serum AAs in diabetes and hypertension suggest that their relationship needs further investigation.</p><p><strong>Objective: </strong>To investigate serum AAs as biomarkers of increased BP variability evaluated during 24-hour ambulatory BP monitoring in the presence of type 2 diabetes.</p><p><strong>Design: </strong>Cross-sectional.</p><p><strong>Subjects and methods: </strong>We analyzed serum AAs using targeted metabolomics (ultrahigh-performance liquid chromatography/mass spectrometry) in patients with type 2 diabetes (n=80). BP variability was assessed using 24-hour ambulatory BP monitoring. Participants were divided into two groups based on the 24-hour diastolic BP variability median value.</p><p><strong>Results: </strong>Aspartic acid, isoleucine, leucine, and phenylalanine were significantly lower, while glutamine was significantly higher in the group with higher diastolic BP variability (p-value <0.05 and variable importance in the projection >1). Corresponding pathways identified as disrupted in patients with diabetes and a higher 24-hour diastolic BP variability were phenylalanine, tyrosine, and tryptophan biosynthesis, phenylalanine metabolism, and alanine, aspartate, and glutamate metabolism (pathway impact value >0).</p><p><strong>Conclusions: </strong>We identified specific changes in serum AAs and target AAs pathways in relation to increased 24-hour diastolic BP variability in patients with type 2 diabetes.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162828/pdf/aeb-18-494.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9432563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"IMMUNOHISTOCHEMICAL MARKERS AND SPECT/CT SOMATOSTATIN-RECEPTOR (99MTC-TEKTROTYD) UPTAKE IN WELL AND MODERATELY DIFFERENTIATED NEUROENDOCRINE TUMORS.","authors":"M I Bădan, D Piciu","doi":"10.4183/aeb.2022.523","DOIUrl":"10.4183/aeb.2022.523","url":null,"abstract":"<p><strong>Context: </strong>Diagnosis of primary NETs (neuroendocrine tumors) is challenging and often late due to tumor heterogeneity, and a wide variety of general symptoms. Low grade NETs are often indolent and have a good prognosis, especially in the early stages. Even so, some tumors are diagnosed using SPECT/CT either in the metastatic stage or directly as a metastasis with an unknown primary tumor.</p><p><strong>Objective: </strong>This study aims to characterize well and moderately differentiated NETs, using Tektrotyd SPECT/CT imaging as well as from the viewpoint of NET immunohistochemical biomarker expression.</p><p><strong>Design: </strong>Patients diagnosed with low grade neuroendocrine tumors (carcinoids) investigated over a period of 2 years, using SPECT/CT with 99mTc-EDDA/HYNIC-Tyr3-Octreotide (Tektrotyd) and confirmed through at least two immunohistochemical neuroendocrine markers were evaluated.</p><p><strong>Subjects and methods: </strong>Twenty-seven cases with neuroendocrine tumors were analyzed. Four patients met the inclusion criteria. Staining intensity was scored using a weak, moderate, or strong scoring system. CD56 was quantified using criteria derived from Her2 cell membrane staining evaluations.</p><p><strong>Results: </strong>Patients included in the study had two well differentiated (G1) NETs and two moderately differentiated (G2) NETs. SPECT/CT with Tektrotyd showed variable intensity ranging from discreet to strong. All tumors expressed chromogranin A with at least moderate intensity, weak to moderate intensity for synaptophysin and variable CD56 intensity.</p><p><strong>Conclusions: </strong>Chromogranin A and synaptophysin staining patterns may aid in primary tumor identification. CD56 stain intensity showed an inverse correlation with Tektrotyd uptake in carcinoids. Additional studies merit further investigation for use in clinical settings.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162825/pdf/aeb-18-523.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9432564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M Demiral, H B G Çelebi, S Cander, O Yerci, E Eren, H Demirbilek
{"title":"TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.","authors":"M Demiral, H B G Çelebi, S Cander, O Yerci, E Eren, H Demirbilek","doi":"10.4183/aeb.2022.458","DOIUrl":"10.4183/aeb.2022.458","url":null,"abstract":"<p><strong>Background: </strong>Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family.</p><p><strong>Patients and methods: </strong>The proband, an 11-year-old male, was referred for asymptomatic mild hyperglycemia (fasting glucose:121 mg/dL) and HbA1c of 6.1%. Segregation analysis of the family revealed multiplex members with asymptomatic fasting hyperglycaemia or non-insulin-dependent diabetes and 33-year-old maternal uncle of the proband case had a history of distal pancreatectomy due to the diagnosis of insulinoma. His preoperative investigations were revealed fasting glucose of 31 mg/dL, insulin: 7µU/mL, C-peptide: 2.6 mg/dL, and a low HbA1c(4.0%) which was suggestive for recurring hypoglycaemia episodes. Post-pancreatectomy he developed mild fasting hyperglycemia (115-136 mg/dL).</p><p><strong>Results: </strong>Genetic analysis revealed heterozygous p.Ser453Leu(c.1358C> T) mutation in the GCK gene in the proband. In segregation analysis, the identical heterozygous p.Ser453Leu(c.1358C> T) GCK gene mutation was detected in all of the other affected family members for whom a DNA analysis was applicable. The maternal uncle was first diagnosed with insulinoma and underwent a pancreatectomy. He also had an identical mutation in a heterozygous state.</p><p><strong>Conclusion: </strong>We, to the best of our knowledge, firstly identified these two entirely distinct phenotypes of glucose metabolism, GCK-MODY and GCK-HI, due to an identical heterozygous p.Ser453Leu (c.1358C> T) mutation in the GCK. Further studies required to elucidate this new phenomenon and understanding the genotype-phenotype relationship of GCK gene mutations.</p>","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162830/pdf/aeb-18-458.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9430791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}