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Purpose Transglutaminase 2 (TG2) is associated with mobilization, invasion, and chemoresistance of tumor cells. We aimed to determine whether the immunohistochemical staining with TG2 antibody differs between metastatic and non-metastatic papillary thyroid cancer patients. Methods We included 76 patients with papillary thyroid cancer (72% female, median age 52 (24–81) years, follow-up time 107 (60–216) months). Thirty of them with no metastasis, 30 of them with only lymph node metastasis and 16 patients with distant ± lymph node metastasis. Immunohistochemical staining of TG2 antibody was evaluated in the primary tumor and extra-tumoral tissue. We also divided subjects into two groups according to their primary tumor TG2 staining score (group A, high risk group: ≥3, n = 43; group B, low risk group

Cinsel kimlik, bireyin kendi bedenini ve kimligini belli bir cinsiyet icinde algilamasi, kabullenmesidir. Psikiyatri uzmanlari tarafindan yapilan degerlendirmeler sonrasinda cinsiyet hosnutsuzlugu tanisi konan bireyler endokrinolojik acidan da degerlendirilmeli ve cinsiyet hosnutsuzlugunun altinda yatabilecek bazi durumlar/ hastaliklar mutlaka dislanmalidir. Hormonal ve geri donusumsuz tedaviler baslamadan once, tercih ettigi cinsel kimlige uygun olan cinsel rolu yasamasi, tedavi oncesi gercek yasam deneyimi acisindan onemlidir. Bu sekilde, istenilen cinsiyette yasama kapasitesi ve sosyal, ekonomik, psikolojik desteklerin yeterli olup olmadigi test edilmis olur. Transbireye uc aylik gercek yasam deneyimi sonrasinda hormon tedavisine baslanabilir, tedavi bireye ozgu olmali ve oncesinde hormon tedavisinin geri donebilen ve kalici etkileri anlatilmalidir. Hormon tedavisi oncesinde fertilite korunmasi ile ilgili bilgilendirme yapilmali ve isteyen kadinlarda over prezervasyonu, erkeklerde sperm saklanmasi onerilmeli, ayrintili bilgilendirilmis onam formu imzalatilmalidir. Transkadinda feminizasyon bulgulari, serum testosteron ve estradiol duzeyleri bakilmali, ilac yan etkileri, meme, kolon, prostat kanseri acisindan rutin kanser taramasi ve osteoporoz risk faktorlerinin degerlendirilmesi yapilmalidir. Transerkek ise, virilizasyon bulgulari, serum testosteron duzeyleri, ilac yan etkileri, uterus intakt ise yillik PAP-smear, meme dokusu intakt ise mamografi ve osteoporoz risk faktorleri acisindan degerlendirilmelidir. Operasyon, en az bir yillik gercek yasam deneyimini tamamlamis olan ve bunun en az 3 ayinda hormon tedavisi kullanmis olan, 18 yasindan buyuklere onerilebilir. Ancak cerrahi tedavinin geri donulmez degisiklikler olusturacagi ve cerrahi secenege gecilmesinin sart olmadigi unutulmamalidir. Cerrahi girisim uygulanmis transbireylerin uzun donem takiplerinde intihar girisimi ve psikiyatrik morbiditelerin artabilecegi bildirilmistir.

Background The association of subacute thyroiditis (SAT) and papillary thyroid carcinoma is a rare finding. In this study, we aimed to investigate the prevalence of differentiated thyroid cancer in a cohort of patients followed with the diagnosis of SAT. Patients and methods We retrospectively screened medical records of Endocrinology and Metabolism outpatient clinic in the past 20 years for patients with SAT. Patients with nodules and suspicious ultrasonography findings who underwent fine needle aspiration biopsy (FNAB) and operated due to malignancy risk were identified. Results We identified 137 (100 females, 37 males) patients with reliable records to confirm the diagnosis of SAT. The mean age of female patients was 41.1 ± 9.1 (range, 20–64) and of male patients was 43.0 ± 9.3 (range, 20–65). One or more FNAB was performed in 23 of the patients (16.8%) at the beginning and/or during the follow-up period when needed. Seven patients with suspicious FNAB findings were operated, and histopathological examination of the nodules confirmed the diagnosis of papillary thyroid carcinoma in 6 patients (4.4%). Conclusions Our observations suggesting a relatively higher prevalence of thyroid cancer in a small series of SAT patients warrant further studies to identify the real frequency of differentiated thyroid cancer and its association with inflammatory pathogenesis of SAT. This finding is compatible with the trend of increased thyroid cancer incidence all over the world. A repeat ultrasonography after resolution of clinical and inflammatory findings, and FNAB should be recommended to all patients with suspicious nodules.

Paget's disease is a disorder of aging bone which occurs in the setting of accelarated bone remodelling. In the presented case we discuss the difficulties in the diagnosis of Paget's disease in a 77 year old patient with coexisting endometrium carcinoma. The patient was initially diagnosed with metastatic bone disease due to endometrium adenocarcinoma when she was admitted to oncology clinic with pelvic pain. Bone scintigraphy with Tc99 and (18)F fluorodeoxyglucose positron emission tomography/CT revealed an increased uptake on the bone lesions which were reported as metastatic bone involvement. Although the (18)F-FDG uptake was much higher than the levels that would generally be anticipated in a case with Paget's disease, high levels of bone turnover markers indicated further evaluation in the differential diagnosis and the definitive diagnosis of Paget's disease was established with the pathological evaluation of bone biopsy.

Introduction Diabetes mellitus (DM) affects peripheral nerves inducing diabetic polyneuropathy (DPN). Mitochondrial dysfunction and oxidative stress are potential causes of DPN. Methods Nerve conduction studies were performed in 20 type 2 DM patients (11 with DPN) and 15 healthy controls. Perception threshold values of cold, warm and vibration were measured by quantitative sensory testing. Variants of a superoxide dismutase 2 (SOD2) gene single nucleotide polymorphism (SNP) (rs5746136) were determined by polymerase chain reaction (PCR) and following NexteraXT DNA Library. Results DPN patients showed significantly increased threshold values. DM patients without DPN and healthy controls showed comparable values. TT variant of the SOD2 SNP was more prevalent in DM and DPN patients. DM patients with the TT variant displayed increased perception threshold values. Conclusions Quantitative sensory testing is not superior to standard nerve conduction studies in DPN. Carriers of SOD2 SNP manifested increased sensory threshold levels which is important in further corroborating the link between oxidative stress and DPN.

Objective Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. Methods This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. Results Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families. Analysis of the LMNA gene also revealed exon 1 codon 47, exon 5 codon 306, exon 6 codon 349, exon 9 codon 528, and exon 11 codon 582 pathogenic variants. Analysis of the PPARG gene revealed exon 3 p.Y151C pathogenic variant in two families and exon 7 p.H477L pathogenic variant in one family. A non-pathogenic exon 5 p.R215Q variant of the LMNB2 gene was detected in another family. Five other families harbored no mutation in any of the genes sequenced. MRI studies showed slightly different fat distribution patterns among subjects with different point mutations, though it was strikingly different in subjects with LMNA p.R349W pathogenic variant. Subjects with pathogenic variants of the PPARG gene were associated with less prominent fat loss and relatively higher levels of leptin compared to those with pathogenic variants in the LMNA gene. Various metabolic abnormalities associated with insulin resistance were detected in all subjects. End-organ complications were observed. Conclusion We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. Phenotypic heterogeneity is remarkable in patients with LMNA pathogenic variants related to the site of missense mutations. FPLD, caused by pathogenic variants either in LMNA or PPARG is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity.

In this study, we aimed to investigate whether HDL-C levels of non-diabetic and type 2 diabetic Turks are as low as those of non-diabetic Turks reported in Turkish Heart Study (THS) and Turkish Adult Risk Factor Sudy (TEKHARF).

Distant metastasis may be the initial sign of differentiated thyroid carcinoma in rare cases. In this instance, the treatment approach is usually individualized. Unlike most other cancers, local treatment of the primary tumor (total thyroidectomy) is preferred as ablative surgery; so that radioactive iodine therapy should be more effective. Repeated doses of I-131 and radiotherapy for metastatic lesions may be needed. We report a female who presented with bone metastasis with fatal progression. Turk Jem 2013; 17: 71-4

Objective: The objective of this study was to assess the effects of Ramadan fasting on daily life routines and metabolic conditions in diabetic patients. Material and Methods: The study sample consisted of 26 patients with Type 2 diabetes who fasted during Ramadan. Data on changes daily life routine and metabolic variables were gathered before and after Ramadan, within a 10 days period. Results: Almost all patients fasted during Ramadan although they had known that fasting had some negative effects on their health, and Islamic rules allow sick people not to fast. Most of the patients declared that they rearranged morning and evening medications according to fasting hours and skipped doses between dawn and sunset, changed diet routine and eating habits including food preference. In addition, some of them changed their sleep schedule and decreased daily physical activity level because of lack of energy caused by fasting. More than half of the patients experienced at least one episode of hypoglycemia during fasting period; all hypoglycemia experiences were mild episodes. However, there was no emergency admission due to fasting-related health problems. We found neither negative nor positive effects of Ramadan on metabolic control variables including weight, HbA1c, fructosamine, C-peptide, insulin, and lipid profile. Conclusion: Ramadan fasting has no negative effects on metabolic parameters in patients with Type 2 diabetes. © 2013 by Türkiye Klinikleri.

Aims To describe the phenotype associated with a novel heterozygous missense PPARG mutation discovered in a Turkish family and to compare the fat distribution and metabolic characteristics of subjects with the peroxisome proliferator activator receptor -γ (PPARG) mutation with those of a cluster of patients with familial partial lipodystrophy with classic codon 482 Lamin A/C (LMNA) mutations. Methods The study involved four subjects with familial partial lipodystrophy who had a novel PPARG mutation (H449L) and six subjects with classic codon 482 LMNA mutations (R482W). Results Compared with subjects with LMNA R482W mutation, fat loss was generally less prominent in subjects with the PPARG H449L mutation. Partial fat loss was limited to the extremities, whilst truncal fat mass was preserved. The PPARG H449L mutation was associated with insulin resistance, hypertriglyceridaemia and non-alcoholic fatty liver disease in all affected subjects, but the severity was variable. Three out of four mutation carriers had overt diabetes or impaired glucose tolerance. Pioglitazone therapy in these three individuals resulted in a modest improvement in their metabolic control, and regular menstrual cycles in the two female subjects. Conclusions We suggest that relatively modest fat loss in patients with PPARG mutations may render the recognition of the syndrome more difficult in routine clinical practice. The PPARG H449L mutation is associated with insulin resistance and metabolic complications, but their severity is variable among the affected subjects.

Mean platelet volume (MPV) was studied in subclinical hypothyroidism (SH) and the results are conflicting. The aim of this study is to assess how MPV is affected in overt hypothyroidism (OH) and mild SH, the 2 end points of hypothyroidism, in patients having low cardiac risk. Premenopausal women without any cardiac risk, 18 with OH, 30 with mild SH, and 37 euthyroid controls were enrolled. Overt hypothyroidism group had higher low-density lipoprotein cholesterol (LDL-C) and total cholesterol levels than the control group ( P < .001 and P < .05, respectively). Increase in MPV was insignificant in OH group when compared with SH and control groups. No correlation was observed between MPV and metabolic and hormonal parameters. Both OH and SH did not influence MPV and high-sensitivity C-reactive protein (hs-CRP) in patients with low cardiovascular risk, but these findings need to be further evaluated in this patient group.

Introduction Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis. Case Presentation We present the case of a 45-year-old Turkish man with Steinert's syndrome, who was not diagnosed until the age of 45. Conclusions In clinical practice, the persistence of diarrhea and fecal incontinence with muscle weakness should suggest that the physician perform an anal manometric study and electromyography. Neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis.

ObjectiveFibroblast growth factor 23 (FGF23), a phosphatonin, inhibits renal phosphate reabsorption and suppresses 1-α hydroxylase activity. Calcitriol stimulates FGF23 synthesis in bone. We aimed to determine the effect of vitamin D replacement therapy on serum FGF23 concentrations in vitamin D-deficient women and to compare the FGF23 concentrations of vitamin D-deficient patients with healthy subjects and patients with genetically determined hypophosphatemic rachitis.Design and methodsThe study group was composed of vitamin D-deficient females (n=18, mean age 29.1±9.9 years), vitamin D-sufficient healthy females (control group;n=19, mean age 28.5±5.2 years), and patients with genetically determined hypophosphatemic rachitis (n=13, mean age 26.5±15.1 years). The groups were compared for serum FGF23, 1,25-dihydroxyvitamin D3 (1,25(OH)2D), calcium, phosphate, bone turnover markers, intact parathyroid hormone (PTH), and urinary excretion of calcium and phosphate. The vitamin D-deficient group was re-evaluated after a standard treatment regimen.ResultsSerum FGF23 concentrations were significantly lower in vitamin D-deficient patients than in vitamin D-sufficient women and hypophosphatemic rachitis group. Serum FGF23 and phosphate concentrations further decreased significantly during replacement of vitamin D (Pr=−0.469,PConclusionDecreased FGF23 concentrations, which further decline during vitamin D replacement therapy, may have favorable action on bone mineralization by counterregulatory effect on phosphate homeostasis. Lower 1,25(OH)2D concentrations at baseline and hypophosphatemia during treatment may have dominating effects on FGF23 concentrations in vitamin D deficiency, leading to decreased FGF23 concentrations at baseline and during replacement therapy.