Hasan Aydın

Objective: Polymorphisms, defined as variations in specific genes, are common in human populations and usually do not cause disease. However, some may influence disease susceptibility or progression. This study aimed to investigate the potential association of two glucokinase (GCK) gene polymorphisms (rs2268576 and rs741038) with the development and metabolic regulation of type 2 diabetes mellitus. Patients and Methods: A total of 134 individuals were enrolled, including 58 patients with type 2 diabetes and 76 non-diabetic controls from outpatient clinics. Genomic DNA was extracted from peripheral blood samples, and genotyping for rs2268576 and rs741038 was performed using real-time polymerase chain reaction (PCR). Genotypic distributions were compared between groups and correlated with laboratory parameters obtained during clinical follow-up. Results: No significant differences were found in the genotypic distributions of rs2268576 and rs741038 between diabetic patients and controls (P> 0.05). Similarly, no association was observed with fasting glucose, postprandial glucose, or HbA1c. However, individuals with the GG genotype of rs741038 had significantly higher microalbumin/creatinine ratios (P = 0.03), suggesting a potential genetic link to diabetic nephropathy despite no association with diabetes development. Conclusion: Although, no relationship was found between these GCK polymorphisms and diabetes itself, the rs741038 GG genotype may indicate risk for diabetic nephropathy, independent of glycemic control.

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. This study enrolled clinically and radiologically proven 185 patients with PDB from 18 endocrinology centers based in 10 cities of Turkey. Results: This cohort of PDB had female preponderance (women/men: 105/80) with a mean age, during diagnosis, of 57±10 years. Most of the patients (59.6%) were symptomatic at diagnosis. Bone pain and headache were the predominant clinical symptoms. Polyostotic disease was observed in 67.5% (n=125) of patients. Frequently affected bones were skull (41.6%), pelvis (53.5%), spine (41%), and femur (25.4%). Moreover, 17 patients with skull involvement had hearing loss. Mean serum alkaline phosphatase (ALP) level (552±652 IU/L; range: 280-5762 IU/L) was over the normal reference cutoff with normal serum calcium levels. Intravenous bisphosphonates (zoledronic acid, 5 mg; pamidronate, 60-90 mg) were the most used drugs (75%) for the treatment of PDB. Most of the patients (87.1%) treated with intravenous bisphosphonates responded well, with a decrease in serum ALP level (117±114 IU/L) in the 12th month of therapy. Furthermore, 16 patients relapsed after the second year of therapy; 3 patients did not respond to the initial intravenous bisphosphonate treatment. Conclusion: The patients with PDB followed up by endocrinology clinics of Turkey exhibited polyostotic disease with classical clinical, radiological, and biochemical features and women’s predominance with good response to intravenous bisphosphonate therapy. Cite this article as: Gogas Yavuz D, Aytürk S, Çetinkalp Ş, Bayraktar F, Kulaksızoğlu M, Hekimsoy Z, et al. Clinical and demographic aspects of Paget disease of bone: A multicentric study from Turkey. Eur J Rheumatol 2021; 8(3): 156-61.

PurposeCovid-19 is a severe lethal disease characterized with pneumonia and acute respiratory distress syndrome. We aimed to analyze the prevalence of critical illness-related corticosteroid insufficiency (CIRCI) in Covid-19 patients treated in intensive care unit and whether treatment of it would create any survival benefit. MethodsA total of 119 Covid-19 patients in intensive care unit were enrolled into the study. All patients received treatment for Covid-19 according to national guideline including hydroxychloroquine, favipiravir, antibiotics including azithromycin and oseltamivir in some patients. Basal cortisol below 10 µg/dl were accepted as CIRCI and above 34 µg/dl as intact HPA axis. Patients between them were introduced 1 µg cosynthropin stimulation test and delta cortisol below 9 µg/dl were also accepted as CIRCI. All patients who got diagnosis received hydrocortisone 300 mg/day until clinical condition stabilized. Mortality rate was recorded, then. ResultsCIRCI was detected in 50.4% of cases and mean plasma ACTH level was 14.8±6.0 pg/ml. Patients below age 65 had a statistically higher risk (63.4 % vs. 40.2%, p=0.012). Presence of comorbidity did not increase the risk of CIRCI (47.3% vs. 62.5%, p=0.18). Also, severity of pulmonary involvement and intubation did not increase the risk of CIRCI. Total mortality rate was 49.5% and not different in patients with and without CIRCI (45.0% vs. 54.5%, p=0.31) indicating benefit of corticosteroid treatment. ConclusionCIRCI is common in Covid-19 patients treated in intensive care unit and treatment of CIRCI provide survival benefit.

Obesity has reached pandemic proportions. Hormonal and metabolic imbalances are the key factors that lead to obesity. South Asian populations have a unique phenotype, peculiar dietary practices, and a high prevalence of consanguinity. Moreover, many lower middle-income countries lack appropriate resources, super-specialists, and affordability to manage this complex disorder. Of late, there has been a substantial increase in both obesity and diabesity in India. Thus, many more patients are being managed by different types of bariatric procedures today than ever before. These patients have many types of endocrine and metabolic disturbances before and after bariatric surgery. Therefore, these patients should be managed by experts who have knowledge of both bariatric surgery and endocrinology. The authors propose “Barocrinology”, a novel terminology in medical literature, to comprehensively describe the field of obesity medicine highlighting the role of knowing endocrine physiology for understating its evolution, insights into its complications and appreciating the changes in the hormonal milieu following weight loss therapies including bariatric surgery. Barocrinology, coined as a portmanteau of “baro” (weight) and endocrinology, focuses upon the endocrine and metabolic domains of weight physiology and pathology. This review summarizes the key pointers of bariatric management from an endocrine perspective.

Aim: Prevalence rates of gestational diabetes mellitus (GDM) show considerable variation among different countries and regions of the world. The primary aim of this study was to determine the nationwide prevalence and predictors of GDM in Turkey.Methods: We conducted prospective nationwide screening among pregnant women. Between August 2016 and November 2017, a total of 2643 pregnant women from 51 centres in 12 different regions were enrolled. A two‐step screening method and Carpenter and Coustan criteria were used in the diagnosis of GDM. Clinical and biochemical data were obtained using electronic database software.Results: The national prevalence of GDM was found to be 16.2% [95% confidence intervals (CI) 15.0% to 17.4%] without a significant difference between urban and rural regions. Women with GDM were older (mean age: 32 ± 5 vs. 28 ± 5 years, P < 0.001) and heavier (mean BMI: 27.2 ± 5.1 vs. 24.7 ± 4.7 kg/m², P < 0.001) than their counterparts without GDM. The prevalence of GDM tended to increase with age (< 25 years, 6.9%; 26–35 years, 15.6%; and 36–45 years, 32.7%; P < 0.001). Maternal age, maternal BMI, history of previous GDM and family history of diabetes mellitus were independent predictors of developing GDM (P < 0.05 for all). Low‐risk women (age < 25 years, BMI < 25 kg/m², no family history of diabetes) comprised 10.7% of the total population and the prevalence of GDM in these women was 4.5% (95% CI 2.4% to 7.8%).Conclusion: The results of this nationwide study indicate that GDM is very common, affecting one in seven pregnancies in Turkey. Implementation of international guidelines on screening and management of this public health problem is required.

Purpose: GDM is defined as any degree of carbonhydrate intolerance that is first diagnosed during pregnancy. Patients diagnosed with GDM are expected to have complications such as Type II DM, obesity, hypertension in the long term. Prevalence of GDM diagnosis during pregrancy changes between 2 and 10%. Our purpose is to revaluate the OGTT of the patients diagnosed with GDM, with regard to their postpartum Type II DM progress. Materials and methods: 450 pregnant women who were not diagnosed with diabetes in the beginning of their pregrancy were included to the study, who had consulted to our clinic between 2012 and 2014. Seventy-two of those quitted the study willingly, 20 of those quitted during follow-up, 12 of those quitted due to spontaneous abortion in the first trimester. 346 remaining patients were included to the study. After 75 g OGTT, GDM screening was made to those patients between 24th and 28th weeks of their pregrancy. With 75 g OGTT, 61 patients were diagnosed with GDM. They were reevaluated with regard to their postpartum Type II DM progress. But 36 of these 61 patients were made 75 g OGTT. Two of those became pregnant again, two of those moved out of the city, 21 of those could not be reached; thus, they could not be reevaluated. Among the patients diagnosed with GDM, 29 of them were followed with diet, four of them with basal and short-acting insulin, two of them only with basal insulin, one of them only with short-acting insulin. Three of those who were followed with diet and one of those who were followed with basal and short-acting insulin were followed with metformin during postpartum period. None of the patients used insulin during postpartum period. Results: Patients called postpartum in the mean month period 20.82±5.66. Mean age average of the patients was 32±5. Postpartum BMI was 29.10±5.47 kg/m². HbA1c average of the patients was 5.77±0.39%. Four patients who were using metformin during postpartum period were accepted as type 2 DM and were not given OGTT. According to 75 g OGTT; with their basal average being (101.83±10.77 mg/dl) and 2nd hour glucose average being (124.66±39.53 mg/dl), 11 (34.3%) patients were not diagnosed with diabetes. Thirteen (36.11%) patients were diagnosed with impaired fasting glucose, three (8.33%) with impaired glucose tolerance, three (8.33%) with impaired fasting glucose and impaired glucose tolerance, six (16.67%) with type 2 DM. Discussion: Our study included pregnant women who had not been diagnosed with DM in the beginning of their pregnancy who later on were diagnosed with GDM during pregnancy. We followed them during their postpartum period. With these results, it is found necessary to follow and evaluate the postpartum period of the patients diagnosed with GDM during pregrancy with regard to Type II DM progress.

Background: α-Hydroxybutyrate (α-HB) is a marker of insulin resistance (IR) and lipid oxidation, both of which precede the development of diabetes and cardiovascular disorders. We aimed to analyze the relation of α-HB levels with anthropometric measurements in individuals without metabolic risk factors. Methods: A total of 82 nonobese individuals [body mass index (BMI) 2] without an accompanying chronic disorder were enrolled into the study. The entire cohort of participants underwent physical examination. Biochemical and hormonal parameters were analyzed. The BMI was calculated as weight/height² (kg/m²). An ELISA method was used to analyze serum α-HB level. The relation of variables was analyzed by correlation analysis. Results: The mean age, BMI, body fat ratio, and waist/hip ratio of participants were 36 (9) years, 24.9 (2.2), 39.2 (3.9), and 0.82 (0.06), respectively. The mean fasting glucose, insulin, homeostasis model assessment of insulin resistance (HOMA-IR) levels, total cholesterol, triglyceride, HDL, and LDL levels were 90.7 (5.1) mg/dL, 9.8 (1.5) IU/mL, 2.2 (0.3), 193.2 (32.6) mg/dL, 119.3 (60.3) mg/dL, 54.6 (12.2) mg/dL, and 114.2 (30.4) mg/dL, respectively. Serum α-HB level was significantly correlated with age, BMI, body fat ratio, waist circumference, waist/hip ratio, fasting glucose, insulin, HOMA-IR, HDL, total cholesterol, and triglyceride. Conclusions: Serum α-HB, a strong marker of insulin resistance, is well correlated with deterioration of anthropometric parameters such as an increase in BMI and body fat distribution in patients with low diabetes risk.

Some in vitro and animal studies have shown endothelial dysfunction in hyperoxaluria models indicating its role in pathogenesis of urolithiasis and relation to CVD. The aim of this study was to investigate endothelial function in patients with urolithiasis in relation to urinary stone risk factors and metabolic parameters. A total of 120 subjects without any known CVD (60 with urolithiasis and 60 healthy subjects) were included into study. Fasting blood and 24-h urine samples were collected to study metabolic parameters (glucose and lipids) and urine stone risk factors (oxalate, citrate, uric acid, and calcium, pH). Endothelial function was assessed as flow-mediated dilation (FMD) at the brachial artery. Age, sex, and body mass index were similar in patients and controls. Of urine stone risk factors, oxalate and citrate were higher in patients than controls. Fasting blood glucose, total LDL cholesterol, and triglyceride were higher, and HDL cholesterol was lower in patients than controls. Although within normal limits systolic blood pressure was higher in patient group, patients with urolithiasis had a lower %FMD than controls. Percent FMD was negatively correlated with urinary oxalate/creatinine ratio (p = 0.019, r = −0.315), calcium/creatinine ratio (p = 0.0001, r = −0.505) age (p < 0.001, r = −0.694), BMI (p < 0.001, r = −0.838), total cholesterol (p < 0.001, r = −0.559), and triglyceride (p < 0.001, r = −0.529). Urine oxalate/creatinine ratio was positively correlated with age (p = 0.01, r = 0.327) and calcium/creatinine ratio with BMI (p = 0.001, r = 0.410). This is the first study demonstrating endothelial dysfunction in human subjects with urolithiasis. This indicates a possible predictive role of urolithiasis in future development of cardiovascular diseases.