Clinical and demographic aspects of Paget disease of bone: A multicentric study from Turkey.

Objective: Paget disease of bone (PDB) is a metabolic bone disease that has been rarely reported in the Eastern countries. This study aimed to evaluate the clinical and demographic characteristics of patients with PDB followed up at endocrinology clinics in Turkey.

Methods: An invitation was sent to tertiary endocrinology clinics to complete a survey on the demographic, clinical, radiological, and laboratory parameters, as well as treatment modalities of patients with PDB.

Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.

Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the inability to concentrate urine. While central diabetes insipidus is caused by mutations in the , the reason for genetically determined nephrogenic diabetes insipidus can be mutations in or After release of AVP from posterior pituitary into blood stream, it binds to AVPR2, which is one of the receptors for AVP and is mainly expressed in principal cells of collecting ducts of kidney. Receptor activation increases cAMP levels in principal cells, resulting in the incorporation of AQP2 into the membrane, finally increasing water reabsorption.

Retro- and orthonasal olfactory function in relation to olfactory bulb volume in patients with hypogonadotrophic hypogonadism.

Introduction: Idiopathic hypogonadotrophic hypogonadism with an olfactory deficit is defined as Kallmann syndrome and is distinct from normosmic idiopathic hypogonadotrophic hypogonadism.

Objective: Because olfactory perception not only consists of orthonasally gained impressions but also involves retronasal olfactory function, in this study we decided to comprehensively evaluate both retronasal and orthonasal olfaction in patients with idiopathic hypogonadotrophic hypogonadism.

Methods: This case-control study included 31 controls and 45 idiopathic hypogonadotrophic hypogonadism patients.

Olfactory and gustatory functions in patients with non-complicated type 1 diabetes mellitus.

The aim of this study was to evaluate any possible relationship between diabetic state and olfactory and gustatory functions in patients with non-complicated diabetes mellitus type 1 (T1D), and also to present evidence of the association between olfactory and gustatory scores and HbA1c values and disease durations. The study included 39 patients with non-complicated T1D and 31 healthy controls. Clinical characteristics such as age, gender, duration of disease, education levels and biochemical analyses (fasting blood glucose, urea, creatinine, total cholesterol, low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein (HDL-C), triglyceride, HbA1c, C-peptide, postprandial blood glucose) were measured.

The value of combined elevation of D-dimer and neopterin as a predictive parameter for early stage acute mesenteric ischemia: An experimental study.

Background The diagnosis of acute mesenteric ischemia is variable. Early diagnosis is important for reducing the mortality and morbidity rates. Aim This experimental study aims to investigate the diagnostic utility of D-dimer and neopterin as a marker for the early stage of acute mesenteric ischemia caused by occlusion of superior mesenteric artery.

Identification of a Novel Deletion in AVP-NPII Gene in a Patient with Central Diabetes Insipidus.

Central Diabetes Insipidus (CDI) is caused by a deficiency of antidiuretic hormone and characterized by polyuria, polydipsia and inability to concentrate urine. Our objective was to present the results of the molecular analyses of AVP-neurophysin II (AVP-NPII) gene in a large familial neurohypophyseal (central) DI pedigree. A male patient and his family members were analyzed and the prospective clinical data were collected.

Evaluation of electrocardiographic parameters in patients with diabetes insipidus.

Background: There is limited data regarding the effect of altered serum osmolality on cardiac electrical activity. The aim of the present study is to evaluate the electrocardiographic (ECG) effects of diabetes insipidus (DI) and any related hyperosmolality in a population of young patients with DI and without any known cardiovascular disease or risk factors.

Methods: Twelve-lead ECG's of 44 consecutive untreated young male patients (age: 21.

Effects of valsartan treatment on serum ghrelin level and left ventricular mass index in patients with untreated primary hypertension.

Objective: In the present study, left ventricular hypertrophy and serum ghrelin concentration in patients with primary hypertension and effects of angiotensin receptor blocker valsartan on these parameters were determined.

Methods: Thirty-seven patients and 30 age and body mass index matched healthy controls were followed up prospectively. Serum ghrelin level was measured by enzyme immunoassay (EIA).

Mitotane-induced hyperlipidemia: a retrospective cohort study.

Limited data are available about mitotane-nduced hyperlipidemia. We retrospectively analyzed lipid data in 38 patients with adrenocortical carcinoma (ACC) who received mitotane therapy with emphasis on HDL cholesterol (HDL-c) and clinical predictors of lipid changes. At baseline, the mean levels of HDL-c, LDL-c, and triglycerides were 53.

Adrenocortical carcinoma: clinical outcomes and prognosis of 330 patients at a tertiary care center.

Objective: Adrenocortical carcinoma (ACC) is a rare malignancy with a poor prognosis. Herein, we describe the clinical features and outcomes for a large series of ACC patients.

Design And Methods: Retrospective review of ACC patients seen at The University of Texas MD Anderson Cancer Center from 1998 through 2011.

A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. We have revealed that this mutation is a de novo mutation for the mother of the proband patient.

A retrospective cohort analysis of the efficacy of adjuvant radiotherapy after primary surgical resection in patients with adrenocortical carcinoma.

Context: Adrenocortical carcinoma (ACC) is a rare malignancy with high recurrence and mortality rates. The role of adjuvant radiation therapy (RT) to improve outcome remains unclear.

Objective: The aim of this study was to evaluate the impact of adjuvant RT on overall survival and recurrence rates of ACC patients.

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.

The aim of this study was to identify mutations in three different genes, the arginine-vasopressin-neurophysin II (AVP-NPII) gene, the arginine-vasopressin receptor 2 (AVPR2) gene, and the vasopressin-sensitive water channel aquaporin-2 (AQP2) gene in Turkish patients affected by central diabetes insipidus or nephrogenic diabetes insipidus. This study included 15 patients from unrelated families. Prospective clinical data were collected for all patients including the patients underwent a water deprivation-desmopressin test.

Heart rate variability of young men with idiopathic hypogonadotropic hypogonadism.

Background: There is little data available regarding the effects of male sex hormones on cardiac autonomic function. The aim of this study is to evaluate the association between hormones of male hypothalamo-pitiutary-gonadal axis and cardiac autonomic function by comparing heart rate variability (HRV) parameters of young male idiopathic hypogonadotropic hypogonadism patients with those of healthy controls.

Methods: The study consisted of 22 male idiopathic hypogonadotropic hypogonadism patients (mean age 20.

Evaluation of vascular reactivity of young male hypogonadotrophic hypogonadism patients.

We aimed to study the vascular reactivity of young male hypogonadal hypogonadism patients without any cardiovascular risk factors and compare these findings with the ones of age-matched healthy controls. Study population consisted of 26 young male hypogonadotrophic hypogonadism patients (20.9 +/- 1.

Association of metabolic syndrome with impaired heart rate recovery and low exercise capacity in young male adults.

Background: Impaired heart rate recovery (HRR) is a powerful predictor of overall mortality.

Aim: The aim of the present study is to assess HRR in young adult males with metabolic syndrome and to compare HRR with those of obese patients who do not meet the criteria for metabolic syndrome.

Patients And Methods: Sixty-four newly diagnosed and untreated young male subjects (24 +/- 3 years) with metabolic syndrome and 40 age and sex matched obese or overweight control subjects (ages 23 +/- 3 years) were enrolled in the study.