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Objective Myocardial injury related to percutaneous coronary interventions (PCI) might adversely affect the prognosis of patients with coronary artery disease. Our study aimed to investigate the effects of long-term statin usage on myocardial injury related to elective PCI. Methods In our study, total 102 patients were included and evaluated in 3 groups based on the statin usage before PCI, "potent statin" group (n=26), "weak statin" group (n=23), and "statin free" group (n=53). The occurrence of the procedural complications was identified (n=31). The myocardial injury was determined by serial high-sensitivity troponin T (hsTnT) testing at 0th, 2nd, 4th, and 12th hour of the procedure. Results The increase in hsTnT values in the 2nd and 4th hour was significantly lower in the potent statin group than in the other 2 groups (p=0.008 and p=0.009, respectively). In patients with procedural complications, the increase in hsTnT levels at the 2nd, 4th, and 12th hour were also lower in the potent statin group (p=0.032, p=0.019, and p=0.006, respectively). Also, in patients with procedural complications, hsTnT levels exceeding the myocardial infarction limit at the 4th and 12th hour were lower in the potent statin group (p=0.039 and p=0.006, respectively). Conclusion These results show that elective PCI related myocardial injury was less frequent in patients who were using high-dose statins. This result was more pronounced in patients who developed complications during the procedure.

Contains fulltext : 220431.pdf (Publisher’s version ) (Closed access) BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1.5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score

OBJECTIVE: Gamma-glutamyl transferase (GGT) to albumin ratio (GAR) has been shown to be helpful to diagnose and determine the severity of coronary artery disease (CAD). Coronary computed tomography angiography (CCTA) is a guide recommended non-invasive test that provides information about the presence, severity, and morphology of coronary plaques. In this study, our main aim was to investigate the relationship between the presence, morphology, and severity of coronary plaques detected via CCTA and GAR in patients with low to moderate risk for undiagnosed CAD. METHODS: Nine hundred and sixty six patients were included who underwent CCTA. The severity of CAD and plaque morphology were investigated. CT-adapted Leaman score (CT-LeSc) was calculated to determine the extent of the CAD. The study population was further evaluated in three groups according to tertiles of GAR. RESULTS: Atherosclerotic plaques were more common in the male gender and older patients with conventional cardiovascular risk factors. GAR was significantly lower in patients with normal CCTA than in patients with a non-obstructive plaque or obstructive plaque on CCTA. Patients in upper GAR tertiles had a higher coronary calcium score (CACS) and CT-LeSc. GAR was one of the independent predictors to predict severe stenotic plaque and high CACS. CONCLUSION: GAR can independently predict the presence, extent, and severity of CAD determined by CT-LeSc. We believe as a cheap, safe, and widely available tool, GAR would be useful in the diagnosis of CAD.

Objective: The incidence of atrial fibrillation (AF) in patients with ST segment elevation myocardial infarction (STEMI) varies between 7% and 21%, and most of these studies were in the thrombolytic era. However, the frequency of new-onset AF during the primary percutaneous coro nary intervention (PCI) period is still unclear. We aimed to investigate the frequency of new-onset AF and its effects on long-term clinical events in patients undergoing primary PCI. Methods: A total of 1,603 patients who were diagnosed with STEMI and underwent primary PCI were included in the study. All the patients were monitored for at least 48 hours after the procedure. The primary endpoint of the study was defined as new-onset AF during hospitalization. Results: The median follow-up period of our study was 44 months. New-onset AF developed in 85 (6.1%) patients. CHADs-VASc > 2, KILLIP > 2, and left atrial diameter were found to be independent predictors for the development of new-onset AF. In the AF (+) group, the all-cause and in-hospital mortality rates were found to be significantly higher. New-onset AF development in patients with STEMI was detected as an inde pendent predictor of in-hospital mortality. Conclusion: In the era of primary percutaneous transluminal coronary angioplasty, new-onset AF rates were found to be lower than the literature data. In addition, new-onset AF was found to be a predictor of in-hospital mortality, and deaths occurred mostly in the early period. Therefore, close follow-up of these patients in the early period and re-evaluation in terms of AF burden when the patient becomes stable are important. © 2021 Turkish Society of Cardiology. All rights reserved.

The data with respect to stable coronary artery disease (SCAD) are mainly confined to main vessel disease. However, there is a lack of information and long-term outcomes regarding isolated side branch disease. This study aimed to evaluate long-term major adverse cardiac and cerebrovascular events (MACCEs) in patients with isolated side branch coronary artery disease (CAD). A total of 437 patients with isolated side branch SCAD were included. After a median follow-up of 38 months, the overall MACCE and all-cause mortality rates were 14.6% and 5.9%, respectively. Among angiographic features, 68.2% of patients had diagonal artery and 82.2% had ostial lesions. In 28.8% of patients, the vessel diameter was ≥2.75 mm. According to the American College of Cardiology lesion classification, 84.2% of patients had either class B or C lesions. Age, ostial lesions, glycated hemoglobin A1c, and neutrophil levels were independent predictors of MACCE. On the other hand, side branch location, vessel diameter, and lesion complexity did not affect outcomes. Clinical risk factors seem to have a greater impact on MACCE rather than lesion morphology. Therefore, the treatment of clinical risk factors is of paramount importance in these patients.

Background: The COVID-19 pandemic has caused more than 60 million confirmed cases and approximately 1.5 million deaths all over the world as of December 1st, 2020. So it’s important to predict the clinical course of infected patients and to prevent the disease course from worsening with early intervention. Aim: This study aimed to evaluate the new generation inflammation markers such as NLR, MPV and RDW in predicting the need for intensive care of COVID-19 patients. Methods: The retrospective cross-sectional study included 112 patients whose hemogram parameters were checked simultaneously with the diagnosis of COVID-19, hospitalized in public hospitals in Antalya province between March 16th and June 15th, 2020. Patients treated in the intensive care unit and treated only in the ward were compared according to laboratory data, and the predictive effect of study parameters on the need for intensive care was investigated. Results: Of the patients 43.8% were female and 56.3% were male. The average age was 49.48 ± 17.12 years. The percentage of patients admitted to the intensive care unit was 19.6% and, died was 5.4%. While MPV was found to be statistically significantly lower in COVID-19 patients who need intensive care, NLR and RDW were found to be statistically significantly higher. Decreased MPV and increased NLR were determined as independent risk factors for ICU admission. In addition, the optimal cut-off value was calculated as ≤ 10.4 for MPV (with 77.27% sensitivity and 66.67% specificity) and > 5.3 for NLR (with 72.73% sensitivity and 91.11% specificity) in predicting ICU admission. Conclusion: NLR, which is checked at the first admission in patients with suspected COVID-19, is an easy, fast, cheap and very valuable test in determining the severity of SARS-CoV2 infection and predicting the need for intensive care.

© 2020 Elsevier Ltd Introduction: Before using blood-oxygen-level-dependent magnetic resonance imaging (BOLD MRI) during maternal hyperoxia as a method to detect individual placental dysfunction, it is necessary to understand spatiotemporal variations that represent normal placental function. We investigated the effect of maternal position and Braxton-Hicks contractions on estimates obtained from BOLD MRI of the placenta during maternal hyperoxia. Methods: For 24 uncomplicated singleton pregnancies (gestational age 27–36 weeks), two separate BOLD MRI datasets were acquired, one in the supine and one in the left lateral maternal position. The maternal oxygenation was adjusted as 5 min of room air (21% O2), followed by 5 min of 100% FiO2. After datasets were corrected for signal non-uniformities and motion, global and regional BOLD signal changes in R2* and voxel-wise Time-To-Plateau (TTP) in the placenta were measured. The overall placental and uterine volume changes were determined across time to detect contractions. Results: In mothers without contractions, increases in global placental R2* in the supine position were larger compared to the left lateral position with maternal hyperoxia. Maternal position did not alter global TTP but did result in regional changes in TTP. 57% of the subjects had Braxton-Hicks contractions and 58% of these had global placental R2* decreases during the contraction. Conclusion: Both maternal position and Braxton-Hicks contractions significantly affect global and regional changes in placental R2* and regional TTP. This suggests that both factors must be taken into account in analyses when comparing placental BOLD signals over time within and between individuals.

Cardiovascular disease is one of the leading causes of death worldwide. According to the results of various studies, protein convertase subtilisin kexin type-9 (PCSK9) was determined as a novel risk factor for stable coronary artery disease. Few studies have investigated the relationship between PCSK9 levels and the severity of coronary artery disease in patients with acute coronary syndrome; thus, we herein aimed to investigate this relationship in patients with non-ST-elevation myocardial infarction (NSTEMI) who underwent coronary angiography.Herein, 168 patients with NSTEMI were prospectively enrolled, and severity of atherosclerotic lesions was determined using SYNergy between percutaneous coronary intervention with TAXus and cardiac surgery (SYNTAX), Gensini and Jeopardy scores. Plasma PCSK9 levels, lipid parameters and C-reactive protein levels were measured after a 12-h fasting period. The relationship of PCSK9 levels and clinical and laboratory parameters of patients with their SYNTAX, Gensini and Jeopardy scores was investigated.Pearson correlation analysis showed a strong positive correlation between PCSK9 and the three scores (P 0.001, r 0.5 for all). In ROC analysis, a mid-high SYNTAX score of at least 25 was predicted with a sensitivity of 81% and a specificity of 63% when the PCSK9 level was higher than 52.8 ng/ml (area under a curve 0.76, P 0.001). Multivariate linear regression analysis revealed that PCSK9, low-density lipoprotein cholesterol and creatinine levels were independent predictors of a high SYNTAX score.Taken together, high PCSK9 levels may be a risk factor for adverse events in patients with NSTEMI. Aggressive lipid-lowering therapies may benefit this group of patients.

This prospective study investigated changes in psychosocial status following otoplasty. All patients who participated in the study filled a sociodemographic form that included age, gender, educational status and job preoperatively. Body Image Scale (BIS), Social Appearance Anxiety Scale (SAAS) and Rosenberg Self-Esteem scale (RSES) were completed prior to surgery and 6 months postoperatively. A total of 20 patients completed psychometric measures of body image, social appearance anxiety, and self-esteem. Of the patients (6 males, 14 females) whose charts were reviewed, the mean age was 24.05 ± 8.25 years (median 22 years: range 18–49) years. Six months post operatively BIS total scores were increased significantly relative to that of the baseline values (p = 0.005).SAAS scores were decreased significantly relative to that of the baseline values (p = 0.003). Although the postoperative RSES score tended to improve, it was not significantly different from the baseline value. The RSES scores showed significantly strong correlation with the SAAS scores (p

There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. This pathway controls hypothalamic regulation of food intake. A few cases have been reported to have mutations in leptin (LEP) or leptin receptor (LEPR) genes. The cases had severe early-onset obesity, hyperphagia, and additional features, such as altered immune function, hypogonadism, and hypothyroidism. We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR.

Objectives: dual antiplatelet therapy with aspirin and a P2Y12 inhibitor is the mainstay of antithrombotic therapy after myocardial infarction and percutaneous coronary interventions (PCI). Despite chronic oral antiplatelet therapy, many atherothrombotic events continue to occur. Several reports in the literature have shown possible relationships between residual platelet activity and clinical outcomes, raising the possibility that “resistance” to oral antiplatelet therapy may underlie such adverse events. In this study, we aimed to determine the prevalence of aspirin and clopidogrel resistance, and related factors. We also aimed to identify the predictors of reduced antiplatelet response among patients undergoing elective PCI for stable coronary artery disease (CAD). Materials and methods: we retrospectively included patients who underwent an elective PCI with available aggregation inhibition test results. According to aggregation inhibition test results, patients were divided into two subgroups: 1-aspirin resistant/low responders and responders 2-clopidogrel resistant/low responders and responders. Results: totally 470 patients with aggregation inhibition test results (all 470 for clopidogrel and 464 for aspirin) were included in the study. Three hundred sixty-eight of them were male (78, 3%). The aspirin resistance group’s mean age was 60.8±10.3 years, the clopidogrel resistance group’s mean age was 58.89±10.1 years, and the aspirin + clopidogrel resistance group’s age was 63.25±8.8 years. Overall, there were 164 patients with single (either aspirin or clopidogrel) and 16 (3%) patients with double resistance. Hypertension, statin use, and platelet count were found as independent predictors of aspirin resistance. Hyperlipidemia, gender, and leucocyte count were found as independent predictors of clopidogrel resistance. Conclusion: 8.1% and 26.8% of stable CAD patients undergoing elective PCI showed insufficient aggregation inhibition by aspirin and clopidogrel, respectively, whereas 3% had double resistance., NA

Background/Objectives In recent years, oxytocin (OXT) and polymorphisms in the oxytocin receptor (OXTR) gene have been reported to play roles in obesity pathogenesis. However, there was no study evaluating OXTR gene variants in childhood obesity. The aim of the study was to investigate the relation of OXTR gene polymorphisms and serum OXT levels with metabolic and anthropometric parameters in obese and healthy adolescents. Subjects/Methods The study was a multi-centered case-control study, which was conducted on obese and healthy adolescents aged between 12 and 17 years. Serum OXT and leptin levels were measured, and OXTR gene variants were studied by qPCR (rs53576) and RFLP (rs2254298) methods. Results A total of 250 obese and 250 healthy adolescents were included in this study. In the obese group, serum OXT level was lower and leptin level was higher than the control group. In the obese group, frequencies of homozygous mutant (G/G) and heterozygous (A/G) genotypes for rs53576 polymorphism were higher than the control group. Homozygous mutant(G/G) and heterozygous (A/G) genotypes for rs53576 polymorphism were found to increase the risk of obesity compared to the wild type (A/A) genotype [OR = 6.05 and OR = 3.06; p < 0.001, respectively]. In patients with homozygous mutant (G/G) and heterozygous (A/G) genotype for rs53576 polymorphism, serum OXT levels were lower than the wild type (A/A) genotype. In the obese group, hyperphagia score was higher than the control group and correlated negatively with serum OXT level. Conclusions This study revealed that low serum OXT level, which is associated with hyperphagia may be an underlying cause for obesity in adolescents. For rs53576 polymorphism of the OXTR gene, obesity risk is higher in patients with homozygous mutant(G/G) and heterozygous(A/G)genotypes.

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6\%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7\% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2\%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6\% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1\%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2\%), HNF1A-MODY in 31 (18.3\%), and variants in ABCC8 in 6 (3.6\%), KCNJ11 in 5 (3\%), HNF4A in 2 (1.2\%), and HNF1B in 2 (1.2\%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50\%), while GCK-MODY is the second most frequent (32\%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20\% of cases were diagnosed with HNF1A-MODY.

Background/aim: We aimed to determine the presence of subclinical atherosclerosis using carotid intima-media thickness (CIMT) and biochemical parameters in children and adolescents with congenital adrenal hyperplasia (CAH). Materials and methods: Thirty-four patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency on regular glucocorticoid treatment for >_3 years and 31 healthy subjects were included in the study. The patients were divided into two groups according to the degree of control of the clinic, laboratory, and radiological parameters as a) "uncontrolled" [n= 22; with increased height velocity (HV) standard deviation score (SDS) (>_2 SDS), advanced bone age, serum 17-OH progesterone _10.0 ng/mL or androstenedione _ 3.0 ng/mL] or b) "controlled" [n= 12; with HV SDS < 2, bone age (BA)/ chronologic age (CA) ratio < 1.2, serum 17-OH progesterone between 2 and 10 ng/mL and androstenedione between 0.3 and 3.0 ng/mL]. Ultrasonographic examination of carotid artery was performed by the same radiologist using a B-mode ultrasound system. Results: There was no significant difference between the CAH and control groups in terms of median (IQR) CIMT values [0.47 (0.05) mm and 0.47 (0.07) mm, respectively; p > 0.05]. When subgroup comparisons were done in terms of median (IQR) CIMT values, there was no significant difference among the controlled, uncontrolled, and healthy control groups [0.45 (0.03) mm, 0.47 (0.04) mm, 0.47 (0.07) mm, respectively; p> 0.05]. In addition, CIMT levels were similar according to sex and disease control status. Conclusion: In this study, the CIMT values of CAH cases were similar to those of healthy subjects.

Background: Experimental and clinical data suggest that reducing inflammation without affecting lipid levels may reduce the risk of cardiovascular disease. Yet, the inflammatory hypothesis of atherothrombosis has remained unproved. Methods: We conducted a randomized, double-blind trial of canakinumab, a therapeutic monoclonal antibody targeting interleukin-1β, involving 10,061 patients with previous myocardial infarction and a high-sensitivity C-reactive protein level of 2 mg or more per liter. The trial compared three doses of canakinumab (50 mg, 150 mg, and 300 mg, administered subcutaneously every 3 months) with placebo. The primary efficacy end point was nonfatal myocardial infarction, nonfatal stroke, or cardiovascular death. RESULTS: At 48 months, the median reduction from baseline in the high-sensitivity C-reactive protein level was 26 percentage points greater in the group that received the 50-mg dose of canakinumab, 37 percentage points greater in the 150-mg group, and 41 percentage points greater in the 300-mg group than in the placebo group. Canakinumab did not reduce lipid levels from baseline. At a median follow-up of 3.7 years, the incidence rate for the primary end point was 4.50 events per 100 person-years in the placebo group, 4.11 events per 100 person-years in the 50-mg group, 3.86 events per 100 person-years in the 150-mg group, and 3.90 events per 100 person-years in the 300-mg group. The hazard ratios as compared with placebo were as follows: in the 50-mg group, 0.93 (95% confidence interval [CI], 0.80 to 1.07; P = 0.30); in the 150-mg group, 0.85 (95% CI, 0.74 to 0.98; P = 0.021); and in the 300-mg group, 0.86 (95% CI, 0.75 to 0.99; P = 0.031). The 150-mg dose, but not the other doses, met the prespecified multiplicity-adjusted threshold for statistical significance for the primary end point and the secondary end point that additionally included hospitalization for unstable angina that led to urgent revascularization (hazard ratio vs. placebo, 0.83; 95% CI, 0.73 to 0.95; P = 0.005). Canakinumab was associated with a higher incidence of fatal infection than was placebo. There was no significant difference in all-cause mortality (hazard ratio for all canakinumab doses vs. placebo, 0.94; 95% CI, 0.83 to 1.06; P = 0.31). Conclusions: Antiinflammatory therapy targeting the interleukin-1β innate immunity pathway with canakinumab at a dose of 150 mg every 3 months led to a significantly lower rate of recurrent cardiovascular events than placebo, independent of lipid-level lowering. (Funded by Novartis; CANTOS ClinicalTrials.gov number, NCT01327846.)

PubMedID: 29353264 The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. The cohort numbered 67. The diagnosis age was 12.4±8.6 months, peak GH stimulation test response (at diagnosis) as 1.0±1.4 ng/mL. The first and second years length gain was 15.0±4.3 and 10.4±3.4 cm. Weight gain had the largest effect on first year growth response; whereas weight gain and GH dose were both important factors affecting second year growth response. In the multiple pituitary hormone deficiency (MPHD) group (n=50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n=17) (p=0.030). In addition first year growth response of infants starting GH between 0 and 12 months of age (n=24) was significantly greater than those who started treatment between 12 and 36 months of age (n=43) (p

BACKGROUND Patients with acute coronary syndrome (ACS) have about a three-fold risk for developing contrast-induced acute kidney injury(CI-AKI). Investigating studies on routine hydration therapy have frequently included patients with stable coronary artery disease and high risk of CI-AKI [estimated glomerular filtration rate (eGFR)

Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Case. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous variant in CYP19A1 [IVS10 + 1 G> A; c.344 G> A (p.R115Q)], with normal gonadotropin levels at the time of admission and histologically normal ovarian tissues. Conclusion. Aromatase deficiency should also be considered even if the initial follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are normal, and ovarian cysts are lacking. © 2020, Turkish National Pediatric Society. All rights reserved.

Objective: This study is designed to evaluate the recently developed AnTicoagulation and Risk factors In Atrial fibrillation (ATRIA) risk score (RS), which determines the predisposition to thromboembolic and hemorrhagic events in atrial fibrillation, as a predictor of prognosis in patients having acute myocardial infarction (AMI), and to compare the predictive ability of ATRIA RS with GRACE RS. Methods: We analyzed 1627 patients having AMI who underwent coronary angiography and/or percutaneous coronary intervention (PCI) between January 2011 and February 2015. The primary endpoints included all-cause mortality, non-fatal MI, and cerebrovascular events during follow-up. Results: Multivariate Cox regression analysis showed that the ATRIA RS>3 was an independent predictor of major adverse cardiac events in patients with AMI [hazard ratio, 2.00, 95% confidence interval, 1.54 to 2.60, p

Background: There is an increased risk for coronary artery disease (CAD) at modestly elevated levels of blood glucose which is still below the present threshold for type 2 diabetes mellitus (T2DM). In the present study, we aimed to define impaired glucose tolerance (IGT) and T2DM in patients with stable CAD and observe the relationship between clinical and laboratory findings. Materials and Methods: A total of 132 patients who had stable CAD and who had not been diagnosed as glucose intolerance or diabetes were enrolled. In one of the groups, there were patients with IGT or T2DM results and the other one consisted of patients with normal oral glucose tolerance test (OGTT) results. The Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) was investigated in patients with fasting plasma glucose (FPG)

Objective: To investigate the relationship between zonulin levels and clinical and laboratory parameters of childhood obesity. Methods: The study included obese children with a body mass index (BMI) >95th percentile and healthy children who were of similar age and gender distribution. Clinical (BMI, waist circumferences, mid-arm circumference, triceps skinfold, percentage of body fat, systolic blood pressure, diastolic blood pressure) and biochemical (glucose, insulin, lipid levels, thyroid function tests, cortisol, zonulin and leptin levels) parameters were measured. Results: A total of 43 obese subjects (23 males, mean age: 11.1±3.1 years) and 37 healthy subjects (18 males, mean age: 11.5±3.5 years) were included in this study. Obese children had significantly higher insulin, homeostasis model assessment of insulin resistance, triglyceride, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol (HDL-C), zonulin and leptin levels than healthy children (p0.05). Comparison of the obese children with and without insulin resistance showed no statistically significant differences for zonulin levels (p>0.05). Zonulin levels were found to negatively correlate with HDL-C and positively correlate with leptin levels, after adjusting for age and BMI. Conclusion: To the best of our knowledge, this is the first study investigating the relationship between circulating zonulin level (as a marker of intestinal permeability) and insulin resistance and leptin (as markers of metabolic disturbances associated with obesity) in childhood obesity. The results showed that zonulin was significantly higher in obese children when compared to healthy children, a finding indicating a potential role of zonulin in the etiopathogenesis of obesity and related disturbances.

Background The wearable cardioverter defibrillator (WCD) is an important approach for better risk stratification, applied to patients considered to be at high risk of sudden arrhythmic death. Patients with implanted pacemakers may also become candidates for use of the WCD. However, there is a potential risk that pacemaker signals may mislead the WCD detection algorithm and cause inappropriate WCD shock delivery. The aim of the study was to test the impact of different types of pacing, various right ventricular (RV) lead positions, and pacing modes for potential misleading of the WCD detection algorithm. Methods Sixty patients with implanted pacemakers received the WCD for a short time and each pacing mode (AAI, VVI, and DDD) was tested for at least 30 seconds in unipolar and bipolar pacing configuration. In case of triggering the WCD detection algorithm and starting the sequence of arrhythmia alarms, shock delivery was prevented by pushing of the response buttons. Results In six of 60 patients (10%), continuous unipolar pacing in DDD mode triggered the WCD detection algorithm. In no patient, triggering occurred with bipolar DDD pacing, unipolar and bipolar AAI, and VVI pacing. Triggering was independent of pacing amplitude, RV pacing lead position, and pulse generator implantation site. Conclusion Unipolar DDD pacing bears a high risk of false triggering of the WCD detection algorithm. Other types of unipolar pacing and all bipolar pacing modes do not seem to mislead the WCD detection algorithm. Therefore, patients with no reprogrammable unipolar DDD pacing should not become candidates for the WCD.

AimThe present study aimed to evaluate systolic and diastolic myocardial function in children and adolescents with congenital adrenal hyperplasia.MethodsThe study included 44 children with the diagnosis of classic congenital adrenal hyperplasia and 39 healthy children whose age, pubertal status, and gender were similar to those of the patient group. Anthropometric parameters and 17-hydroxyprogesterone levels were measured, and bone age was calculated. The average daily hydrocortisone dose was calculated over the last 1-year file records. Hyperandrogenic state was defined according to bone age SD score (⩾2) and 17-hydroxyprogesterone levels (>10 ng/ml). Echocardiographic examinations were assessed by conventional two-dimensional Doppler echocardiography and tissue Doppler imaging.ResultsPatients had higher morphological parameters, such as left ventricular end-systolic diameter, interventricular septal thickness at end diastole, left ventricular posterior wall thickness at end diastole, left ventricular mass and index, than the control group (pConclusionThis study demonstrated that the patients with congenital adrenal hyperplasia are at risk for left ventricular hypertrophy, systolic and diastolic myocardial subclinical alterations. Overtreatment may be responsible for the increased risk of myocardial dysfunction in patients with congenital adrenal hyperplasia.

ObjectiveEndothelin-1 (ET-1) promotes the progression and induction of sclerotic renal changes in end-stage kidney disease. Membrane-bound endothelin-converting enzyme 1 (ECE-1) is involved in the production of ET-1. The aim of this study was to assess the effects of ECE-1b rs213045 and rs2038089 polymorphisms, which have been shown to be involved in the development of atherosclerosis, hypertension, and nephropathy, on the development of contrast-induced acute kidney injury (CI-AKI) in patients with acute coronary syndrome.MethodsOur study included 38 patients with CI-AKI (CI-AKI[+]) and 55 patients without CI-AKI (CI-AKI[−]) who had coronary syndrome. The ECE-1b polymorphisms rs213045 and rs2038089 were assessed using real-time PCR. Serum ET-1 levels were measured by ELISA.ResultsThe distributions of ECE-1b rs213045 and rs2038089 polymorphisms were similar between the two groups. Additionally, the serum ET-1 level did not different between the groups and was not associated with the ECE-1b polymorphisms. Peri-procedural low systolic blood pressure (SBP) was identified as a risk factor for CI-AKI development.ConclusionOur findings indicate that ECE-1b rs213045 and rs2038089 polymorphisms are not associated with CI-AKI development and that peri-procedural low SBP is a risk factor for CI-AKI. However, variations in ECE-1b rs2038089 may contribute to the development of CI-AKI.

Introduction: Several case reports stress that high-dose biotin causes incorrect laboratory results. However, the extent of this interference in children is not systematically studied. Aim: To assess factors associated with biotin interference on thyroid function tests in subjects with biotinidase deficiency. Method: The study included 44 children who were treated with oral biotin (Group 1, median dose: 10 mg/day [25–75p; 10–10], age: 1.83 years [1.04–2.90]) and 30 healthy subjects (Group 2, age: 1.05 years [0.37–3.37]). Thyroid function tests were performed with two different assays, and streptavidin-coated particles were used in order to remove biotin from serum samples of cases with biotin interference. Results: The measurements were first performed with Beckman Coulter. In Group 1, remarkably high levels of fT3 and fT4 were found in 26 (59.1%) and 25 (56.8%) patients, respectively. Thyroid hormone functions were all normal in Group 2. Significantly higher serum biotin levels were detected in interference-positive children (p < 0.001). The serum biotin levels in Group 1 showed a strong positive correlation with fT3 (r = 0.867, p < 0.001) and fT4 levels (r = 0.905, p < 0.001). A serum biotin level of 80.35 µg/L was found to be the best cut-off value for predicting interference (sensitivity: 96.2% and specificity: 94.4%). When analyzed with Siemens Advia Centaur XP, all thyroid function tests were normal in both groups except in one patient (2.27%) with slightly elevated fT3 level in Group 1. Repeated tests with Beckman Coulter after neutralization of biotin with streptavidin magnetic particles in serum samples of the interference-positive cases revealed normal thyroid hormone levels. Conclusion: Interference is an important problem in thyroid function tests in nearly 60% of all children receiving biotin treatment for biotinidase deficiency. Serum levels of biotin rather than the dosage are the main determinant of interference, which can be eliminated by choosing appropriate laboratory methods.

Objective: The use of alendronate, one of the bisphosphonates that can be used orally in the treatment of osteoporosis, has become widespread in recent years. In this study, we aimed to compare the efficacy of these two different treatment regimens such as weekly and daily oral alendronate in patients with secondary osteoporosis.

Copyright © 2015 by the Endocrine Society.Context: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function. Objectives: The aim of this study was to identify and report the gene responsible for autosomal-recessive hypergonadotropic hypogonadism in two unrelated families. Design and Participants: Clinical evaluation and whole-exome sequencing were performed in two pairs of sisters with nonsyndromic hypergonadotropic hypogonadism from two unrelated families. Results: Exome sequencing analysis revealed two different truncating mutations in the same gene: SOHLH1 c.705delT (p.Pro235fs∗4) and SOHLH1 c.27C>G (p.Tyr9stop). Both mutations were unique to the families and segregation was consistent with Mendelian expectations for an autosomal-recessive mode of inheritance. Conclusions: Sohlh1 was known from previous mouse studies to be a transcriptional regulator that functions in the maintenance and survival of primordial ovarian follicles, but loss-of-function mutations in human females have not been reported. Our results provide evidence that homozygous-truncating mutations in SOHLH1 cause female nonsyndromic hypergonadotropic hypogonadism.

Many studies have revealed a role of YKL-40 as a new inflammatory biomarker in angiogenesis, inflammation, atherosclerosis and cardiovascular events. Thus, the aim of this study was to investigate the association of serum YKL-40 level with coronary collateral development and SYNTAX score in patients with stable coronary artery disease.A total of 165 patients who had ≥90% stenosis in at least one major coronary artery were prospectively enrolled in the study. Collateral degree was graded according to Rentrop-Cohen classification. Patients with grade 2 or 3 collateral degree were included in good collateral group and patients with grade 0 or 1 collateral degree were included in poor collateral group. The patients were also classified according to SYNTAX criteria, those with low (≤22) and those with high (22) SYNTAX score.Serum YKL-40 and hs-CRP levels were significantly lower in good collateral group. Furthermore, YKL-40 level showed significant positive correlations with SYNTAX score (r=0.486, p0.001) and hs-CRP level (r=0.340, p0.001). In multivariate regression analysis, serum YKL-40 (odds ratio: 0.928; 95% confidence interval: 0.917-0.940; p0.001), duration of ischemic symptom and total occlusion were independent predictors of good collateral development. In ROC curve analysis, a YKL-40 value cut-off point of ≥168.5 predicted the high SYNTAX score with a sensitivity of 81.0% and specificity of 72.4%.Increased serum YKL-40 level was related with poor collateral development and high SYNTAX score. According to these findings YKL-40 can be used as a predictor of good collateral development and high SYNTAX score.

This study aimed to investigate the relationship between serum irisin level and metabolic and anthropometric parameters in obese children.The study included 36 obese children with a body mass index (BMI) of ≥95th percentile and 30 healthy children with a BMI ranging from the 5th to the 85th percentile. Healthy and obese children had similar age, gender and pubertal stage distribution. Anthropometric and biochemical parameters (fasting glucose, insulin, lipid profile, leptin and irisin levels) were measured. Bioelectric impedance analysis was used to determine the body composition parameters, including body fat percentage and fat mass.Serum irisin and leptin levels of the obese children were significantly higher than those of the healthy children [median irisin levels, 141.2107.6ng/mL, p=0.024; median leptin levels, 10.92.9pg/mL, P0.001, respectively). No statistically significant difference was found when leptin and irisin levels were compared among obese patients in terms of the presence of insulin resistance. Irisin levels significantly correlated with high-density lipoprotein cholesterol (HDL-C), fasting insulin and homeostasis model assessment-insulin resistance (HOMA-IR) with adjustment for age and BMI. The multivariate regression analysis showed that age, HOMA-IR and HDL-C had a significant association with the serum irisin level, which explained 30.6% of the variance.This study demonstrated that obese children had significantly higher irisin levels than healthy children. Additionally, it provides evidence regarding the role of irisin on insulin sensitivity and lipid metabolism in childhood obesity.

Phthalate plasticizers used in a wide range of common plastic products are released into the environment and may pose a risk of increased incidence of type 2 diabetes. In this work, we studied the effects of monoethyl phthalate (MEP), the metabolite of diethyl phthalate, exposure on 1.1B4 human pancreatic beta cells at low doses (1–1000 nM). We showed that MEP treatment induced proliferation in 1.1B4 cells. Also PCNA protein expression levels were increased related to proliferation induction. It has been noted that phthalates can exert estrogen mediated response by interacting with ER. In our study 24 h MEP treatment decreased ERα protein expression level conversely it increased the same protein expression level after 72 h treatment. Also MEP treatment decreased ERβ expression after 72 h at 1.1B4 cells. Our results further show that insulin content of 1.1B4 cells were increased with low dose MEP treatment. Along with our insulin content results, PDX- 1 expression levels were also increased at 1.1B4 cells with MEP treatment. These findings suggest that MEP acts as an estrogenic compound and PPARγ agonist at lower concentrations. Also it should be noted that PDX-1 may be a critical regulator of 1.1B4 cells treated with MEP.

Familial Mediterranean fever (FMF) is an autosomal recessive, inherited autoinflammatory disease characterized by recurrent, self-limited attacks of fever, and inflammation of serosal surfaces. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of children with FMF. We investigated VDR FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms in 50 children with FMF and 150 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism. There was no significant difference between patients and controls for VDR FokI, TaqI, BsmI, and ApaI genotypes and alleles (p > 0.05). Results need to be supported by further investigations that define haplotype patterns for VDR gene polymorphisms in a larger group and different ethnic groups of FMF patients.

Objective: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development (DSD). This condition is inherited from an X-linked recessive pattern, and the most common causes are inactivating mutations in the androgen receptor (AR) gene. The current study reports a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea. Methods: A 16-year-old patient was admitted to our department with complaints of primary amenorrhea and a request for genetic counseling. The patient's medical history revealed that she underwent a bilateral inguinal hernia operation when she was 4 months old. The physical examination revealed that the external genitalia structure was totally consistent with a female phenotype; and according to the Tanner stages, breast and pubic hair development were stages 5 and 1, respectively. Karyotype analysis was reported to be 46,XY. Therefore, the diagnosis of complete androgen insensitivity syndrome (CAIS) was suspected, and the AR gene was sequenced. Results: AR gene mutation analysis revealed a novel hemizygous frameshift mutation (c.1629_1630insA; p.R544KfsX8) as the cause of the phenotype in this patient. Conclusion: This case report emphasizes that: (1) 46,XY DSD should be considered in the differential diagnosis of patients with a female phenotype presenting with bilateral inguinal hernia during the early infancy period, and (2) CAIS should be considered in the differential diagnosis of patients with female phenotype and breast development presenting with primary amenorrhea. Abbreviations: AIS = androgen insensitivity syndrome AMH = anti-Mullerian hormone AR = androgen receptor 17-β HSD = 17-β-hydroxysteroid dehydrogenase CAIS = complete androgen insensitivity syndrome DSD = disorders of sex development E2 = estradiol N = normal SRD5A2 = 5-alpha-reductase type 2

AIMS The purpose of this study is to compare distal oesophagus of persons with and without gastric reflux in terms of bacterial load and presence of certain bacterial species. METHODS AND RESULTS Two biopsy specimens were obtained from the distal oesophagus at 5 cm above the gastroesophageal junction of each of the 50 patients (20 with normal oesophagus and 30 with reflux oesophagitis) under endoscopic examination and used for histological examination and DNA isolation. We used a real-time PCR-based assay to quantify the bacterial load and the presence of certain bacterial species from one of the biopsy samples. The biopsy specimens taken from the patients with reflux oesophagitis were consistent with gastroesophageal reflux disease (GERD). The bacterial load did not significantly differ between the groups (P

Background: High-sensitive cardiac troponin (hsTn) levels can be elevated due to non-pathological events such as strenuous exercise. However, the effect of statins on circulating hsTnT levels with moderate exercise is uncertain. Therefore, we evaluated the impact of statins on hsTnT level with moderate exercise. Methods: We enrolled a total of 56 patients: 26 statin users and 30 non-users. All patients were shown to have no coronary artery disease before participating in the study. Participants performed a fixed-protocol moderate level exercise. HsTnT levels were measured before and 4 h after the exercise. Participants were also grouped based on their hsTnT levels, as proposed in the recent European Society of Cardiology guideline (0-1 hour algorithm) for acute coronary syndromes without persistent ST-segment elevation. Results: Statin users showed a significant increase in serum hsTnT levels with moderate exercise (p = .004), whereas the control group showed a modest increase without statistical significance (p = .664). The percentage of patients whose hsTnT levels exceeded the rule-out limits for non-ST-segment myocardial infarction diagnosis (according to the 0-1 algorithm) after moderate exercise varied significantly between groups (p = .024). Conclusions: Statin therapy can cause a significant increase in hsTnT levels after moderate exercise. This increase can jeopardise the accuracy of clinical diagnoses based on the newly implemented algorithms. The awareness of these adverse effects of statins, mainly used by patients with high risk of coronary events, can prevent misdiagnosis or unnecessary hospitalisations.

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with autosomal-dominant inheritance, which usually develops before 25 years of age. MODY is classically caused by a heterozygous mutation of genes known to affect insulin production or secretion. Heterozygous inactivating hepatocyte nuclear factor 4A (HNF4A) mutations, one of the rare subtypes of MODY, cause impaired insulin secretion and subsequent glucose intolerance especially in adolescence. Conversely, HNF4A mutations are also known to be associated with macrosomia and hyperinsulinemic hypoglycemia in newborns. Herein, we report a rare cause of diabetes resulting from a novel heterozygous mutation in the HNF4A gene. In conclusion, genetic testing should be considered in order to establish an accurate diagnosis and provide an opinion in determining the appropriate type of treatment.

The aims of the present study are to evaluate the effect of l-dopa on the secretion of cortisol and adrenocorticotropic hormone (ACTH) in short children and compare the performance of this test with the insulin tolerance test (ITT) in a large number of patients. A total of 29 short but otherwise healthy children [mean age 9.5 ± 3.1 years (range 3.7–14.9 years)] who had inadequate growth hormone (GH) responses to ITT, which was performed as the first test, were consecutively enrolled in this study. GH, cortisol, and ACTH levels were measured just before administration of l-dopa and then at 30-min intervals afterward over a total time of 120 min. Peak concentrations of cortisol and ACTH exceeding 18 µg/dL (496 mmol/L) and 46 pg/mL (10.2 pmol/L), respectively, were defined as an adequate response. While the l-dopa test revealed that 26 of the 29 children (89.7%) had peak serum cortisol levels of > 18 µg/dL, the ITT revealed that only 23 children (79.3%) had adequate cortisol responses. The l-dopa test revealed normal ACTH responses (> 46 pg/mL) in 24 (82.8%) patients. Peak cortisol levels were higher in children with normal ACTH responses than in those with subnormal ACTH responses (25.6 ± 6.2 vs. 19.5 ± 6.4 µg/dL, p = 0.054), but the difference observed was statistically insignificant. The results of the current study confirm that the l-dopa test is a reliable test of cortisol secretion. As such, this test may be applicable to assessments of the hypothalamic–pituitary–adrenal axis.

Background/aim: Galanin is a neuropeptide that is shown to be involved in the regulation of food intake and glucose homeostasis. The objective of this study was to evaluate the relation of serum galanin levels with anthropometric and metabolic parameters in obese and healthy children. Material and methods: The cross-sectional study consisted of 38 obese children (mean age: 11.9 ± 3.0 years) and 30 healthy children (mean age: 11.4 ± 2.0 years). Clinical and biochemical parameters [glucose, insulin, homeostasis model assessment-insulin resistance (HOMA-IR), lipids, galanin, and leptin levels] were assessed. Results: Serum galanin and leptin levels were significantly higher in obese children. In obese children, galanin levels were positively correlated with fasting glucose (r = 0.398, p = 0.013), insulin (r = 0.383, p = 0.018), HOMA-IR (r = 0.375, p = 0.020), and triglycerides (r = 0.391, p=0.015). Multivariate backward regression analysis revealed that galanin levels were significantly associated with fasting glucose, insulin, HOMA-IR, and triglyceride, which explained 42.0% of the variance (r2 = 0.483, P < 0.001). Conclusions: Serum galanin levels were significantly higher in obese children than healthy controls and positively correlated with insulin resistance and triglycerides in obese children. This study suggests that galanin is associated with glucose homeostasis and lipid metabolism in childhood obesity.

It is difficult to make a diagnosis of adrenal insufficiency in the newborn, because the clinical findings are not specific and the normal serum cortisol level is far lower compared to children and adults. However, dehydratation, hyperpigmentation, hypoglycemia, hyponatremia, hyperkalemia and metabolic acidosis should suggest the diagnosis of adrenal insufficiency. Hypotension which does not respond to vasopressors should especially be considered a warning. If the adrenocorticotropin hormone level measured simultaneously with a low serum cortisol level is 2-fold higher than the upper normal limit of the reference range, a diagnosis of primary adrenal insufficiency is definite. Even if the serum cortisol level is normal, a diagnosis of relative adrenal insufficiency can be made with clinical findings, if the patient is under heavy stress. The serum cortisol level should be measured using the method of 'high pressure liquid chromatography' or 'LC mass spectrometry'. Adrenal steroid biosynthesis can be evaluated more specifically and sensitively with 'steroid profiling'. Rennin and aldosterone levels may be measured in addition to serum electrolytes for the diagnosis of mineralocorticoid insufficiency. Adrenocorticotropic hormone stimulation test may be used to confirm the diagnosis and elucidate the etiology. In suspicious cases, treatment can be initiated without waiting for the adrenocorticotropic hormone stimulation test. In schock which does not respond to vasopressors, intravenous hydrocortisone at a dose of 50-100 mg/mYenidoğanda adrenal yetmezlik tanısı klinik bulguların özgül olmaması ve normal serum kortizolunun büyük çocuk ve erişkinlere göre çok düşük olması gibi nedenlerle güçtür. Bununla birlikte dehidratasyon, hiperpigmentasyon, hipoglisemi, hiponatremi, hiperkalemi ve metabolik asidoz adrenal yetmezlik tanısını düşündürmelidir. Vazopressorlara yanıt vermeyen hipotansiyon özellikle uyarıcı olmalıdır. Düşük serum kortizolu ile eş zamanlı adrenokortikotropik hormon düzeyi referans aralığının üst sınırının iki katından yüksekse primer adrenal yetmezlik tanısı kesindir. Serum kortizol düzeyi normal olsa bile, hasta ağır stres altındaysa, klinik bulgularla relatif adrenal yetmezlik tanısı konabilir. Serum kortizol düzeyi ‘high pressure liquid chromatography’ ya da ‘LC mass spectrometry’ yöntemi ile ölçülmelidir. ‘Steroid profiling’ ile adrenal steroid biyosentezi daha özgül ve duyarlı değerlendirilebilir. Mineralokortikoid yetersizliğinin tanısı için serum elektrolitlerinin yanısıra renin ve aldosteron düzeyi ölçülebilir. Tanının doğrulanması ve etiyolojinin aydınlatılması için adrenokortikotropik hormon uyarı testine başvurulabilir. Şüpheli olgularda adrenokortikotropik hormon uyarı testi beklenmeden tedavi başlanabilir. Vazopressorlara yanıtsız şokta İv hidrokortizon 50-100 mg/m

Introduction: We examined the clinical effectiveness of trimetazidine (TMZ), a metabolic anti-ischemic agent, on lipoprotein-associated phospholipase A2 (Lp-PLA2) levels, which is considered a risk factor for cardiovascular events, and on exercise parameters in patients with stable angina pectoris (SAP). Patients and Methods: The study included 30 patients (mean age 62.1 ± 8.3 years; range 47 to 77 years) with SAP and a positive exercise test result. Serum Lp-PLA2 levels were measured at baseline. Exercise testing and Lp-PLA2 measurements were repeated after at least 12 weeks of TMZ treatment. Results: After TMZ treatment, Lp-PLA2 levels decreased significantly (p= 0.006), and workload increased significantly (p= 0.048). Conclusion: Trimetazidine treatment reduces serum Lp-PLA2 levels via shifting cardiac metabolism, resulting in decreased production of free oxygen radicals and inflammation. This finding, together with improvements in exercise test parameters, suggests that TMZ may have a beneficial effect on the prognosis of patients with SAP.

Although cardiovascular protective action of bilirubin has been attributed to its antioxidant effect, there was scarce data regarding the anti-inflammatory properties. Herein, we aimed to assess the relationship between serum total bilirubin level and severity of coronary artery disease (CAD) in association with the direct inflammatory marker such as C-reactive protein (CRP), the other indirect markers included in inflammation process such as neutrophil to lymphocyte ratio (NLR) and red cell distribution width (RDW) in patients with stable CAD.Angiographic data of 1501 patients were analyzed in this retrospective cross-sectional study. Patients were categorized according to Gensini scores as control, mild CAD and severe CAD groups. The association of clinical and laboratory parameters with the severity of CAD were determined by multivariable linear regression analysis.Total bilirubin level in the control group was significantly higher than those of the other groups. After multivariable linear regression analysis total bilirubin [β=-3.131 (-4.481, -1.782), p0.001] was significantly associated with the severity of CAD. Futhermore, there was a moderate and significant inverse correlation between serum total bilirubin level and the severity of CAD (r=-0.173, p0.001), CRP (r=-0.112, p0.001), NLR (r=-0.070, p=0.026) and RDW (r=-0.074, p=0.027).Serum total bilirubin level was independently and inversely associated with the severity of coronary atherosclerosis in patients with stable CAD. In addition, total bilirubin level was inversely correlated with CRP, NLR and RDW. These results suggest that besides its already known effect on the oxidative stress, higher serum total bilirubin level may exhibit an anti-inflammatory effect in the coronary atherosclerotic process.

Aim: In this study, it was aimed to evaluate the clinical, antropometric and laboratory findings of female patients diagnosed with central precocious puberty and to determine the laboratory value with the best diagnostic accuracy in the diagnosis of central precocious puberty. Material and Methods: Female patients whose breast development began before the age of 8 years were included in the study. The data of the patients were obtained by retrospectively examining file records. The chronogical age, age at the time of onset of the complaint, antropometric variables, bone age and hormonal tests were recorded. The patients whose bone age/chronological age ratio was >1 and in whom pubertal response was obtained to gonodotropin releasing hormone stimulation test were considered central precocious puberty and the patients who did not meet these criteria were considered premature thelarche. Receiver operating charecteristic curve (ROC) analysis was performed to determine the diagnostic accuracy of the laboratory variables. Results: Fifty one patients with idiopathic central precocious puberty and 36 patients with premature thelarche were included in the study. In the patients with central precocious puberty, the height standard deviation score, bone age and bone age/chronological age ratio were found to be significantly higher compared to the patients with premature thelarche. The basal luteinizing hormone, basal follicle stimulating hormone, basal luteinizing hormone/follicle stimulating hormone, peak luteinizing hormone, peak follicle stimulating hormone and peak luteinizing hormone/follicle stimulating hormone values were found to be significantly higher in the patients with central precocious puberty. When the cut-off value for the peak luteinizing hormone/follicle stimulating hormone ratio was taken as >0.24, the sensitivity was found to be 100% and specificity was found to be 84%. When the cut-off value for the basal follicle stimulating hormone was taken as >1.9 IU/L, the sensitivity was found to be 71% and specificity was found to be 68%. When the cut-off value for the basal luteinizing hormone was taken as >0.1 IU/L, the sensitivity was found to be 71% and specificity was found to be 64%. Conclusions: In female children, a peak luteinizing hormone/follicle stimulating hormone ratio of >0.24 can be used in the diagnosis of central precocious puberty. However, the findings should be assessed in association with the clinical and antropometric variables.

Prasugrel, a third generation P2Y12 receptor inhibitor, is more powerful than clopidogrel. TRITON-TIMI 38 trial compared the effectiveness of prasugrel with clopidogrel in patients with STEMI and NSTEMI. This paper examined the main TRITON-TIMI 38 trial and subgroup analyses of the trial to determine patient subgroups in which prasugrel is superior to clopidogrel in preventing clinical events without an additional increase in bleeding risk. In such patients, one might expect to derive optimal benefit from prasugrel without a significant increase in bleeding.

Objective: The observation that Bop null allele mice show underdeveloped right ventricle and excessive development of left ventricle, suggests the possible relationship between human BOP gene and hypertrophic cardiomyopathy (HCMP). In our study, we investigated this possible relationship between BOP gene variations and QT dispersion, a noninvasive arrhythmic risk marker for HCMP. Methods: This cross-sectional study consisted of 50 patients clinically diagnosed with HCMP and 60 healthy subjects. Exonic regions of BOP gene were amplified by polymerase chain reaction and amplified exonic regions were analyzed by Single-Strand Conformation Polymorphisms (SSCP). The samples with different migration patterns were sequenced through an automated sequencing system. Continuous variables were compared by unpaired t-test for independent samples or Mann-Whitney U test. Genotype-disease relationship was tested by Chi-square test. Results: The nucleotide substitutions G275>A and C965>A in exon 2 and 7 were determined only in HCMP group. The G707>C, C710>T, T761>C, T1217>C SNPs in exon 6 and 9 are also found in the control group. Significant differences were found between two groups (p=0.002 and p

BACKGROUND Toluene is used extensively in various industrial processes, and an increasing number of workers are getting exposed to its vapor. Cardiac abnormalities that have been reported in association with toluene exposure (in toxic doses) are atrioventricular conduction abnormalities, sinus bradycardia, ventricular tachycardia, recurrent myocardial infarction, dilated cardiomyopathy, and coronary vasospasm. HYPOTHESIS We aimed to investigate the effects of chronic toluene exposure on cardiac rhythm. METHODS In this study, 40 workers in the polishing industry with more than 3 months of exposure to a mixture of organic solvents including toluene and 38 control subjects working in other fields who were matched by age, sex, smoking, habits, and living accommodation were investigated. Twelve-lead surface electrocardiogram and 24-hour Holter recordings were performed to determine QRS duration, PR duration (P and R wave interval on electrocardiograms), P wave dispersion, corrected QT dispersion, and heart rate variability parameters. RESULTS The maximum heart rate was significantly lower in the toluene-exposed group compared to the control group (130.5 ± 15.1 vs 138.6 ± 16.0, P = 0.02). Corrected low frequency (cLF) and cLF/corrected high frequency (cHF) were also significantly lower in toluene-exposed group (43.6 ± 7.2 vs 50.7 ± 10.5, P = 0.01 and 1.4 ± 0.4 vs 2.2 ± 1.0, P

Background: Similar autoimmune processes (defective T-cell function) take place during the pathogenesis of aplastic anemia (AA) and Graves’ disease (GD). Antithyroid drugs used for the management of GD may induce AA and GD may occur following treatment of severe aplastic anemia (SAA). Case presentation: Clinical and laboratory investigations were performed for an 11-year-and-2-month-old girl who was referred for bilateral exophthalmus and abnormal thyroid function tests. She had been diagnosed as having severe acquired AA at the age of 8 years and had been treated with allogenic hematopoietic stem cell transplantation from her healthy human leukocyte antigen-matched sibling donor. Clinical examination revealed a weight of 32.6 kg (−0.88 standard deviation [SD] score); height, 145.7 cm (−0.14 SD score); body mass index 15.5 kg/m2 (−1.01 SD score); heart rate, 110/min; blood pressure, 128/74 mmHg; bilateral exophthalmos and an enlarged thyroid gland. The laboratory workup showed hemoglobin of 11.1 g/dL; white blood cells, 7500/mL; platelets, 172,000/mL; free thyroxine (FT4), 4.80 ng/dL (normal, 0.5–1.51); free triiodothyronine (FT3), 17.7 pg/mL (normal, 2.5–3.9); thyrotropin (TSH), 0.015 mIU/mL (normal, 0.38–5.3); antithyroglobulin peroxidase (TPO) antibody, 61.7 IU/mL (normal, 0–9); antithyroglobulin (TG) antibody, Conclusions: The association of hyperthyroidism and AA in the pediatric age group is rare. The long-term use of antithyroid drugs and radioactive iodine should be avoided due to their hematologic toxic side effects.

Galectin-1, a recently identified peptide, is primarily released from the adipose tissue. Although galectin-1 was shown to have an anti-inflammatory effect, its specific function is not clearly understood. We aimed to evaluate the relationship of serum galectin-1 levels with clinical and laboratory parameters in childhood obesity. A total of 45 obese children (mean age: 12.1 +/- 3.1 years) and 35 normal-weight children (mean age: 11.8 +/- 2.2 years) were enrolled. Clinical [body mass index (BMI), waist circumference (WC), percentage of body fat and blood pressure] and biochemical [glucose, insulin, lipids, galectin-1, high-sensitive C-reactive protein (hsCRP) and leptin levels] parameters were assessed. Serum galectin-1, hsCRP and leptin levels were significantly higher in obese children than those in normal-weight children (12.4 vs 10.2 ng/mL, p < 0.001; 3.28 vs 0.63 mg/L, p < 0.001; 8.3 vs 1.2 ng/mL, p < 0.001, respectively). In obese children, galectin-1 levels correlated negatively with fasting glucose (r = 0.346, p = 0.020) and positively with fat mass (r = 0.326, p = 0.026) and WC standard deviation score (SDS) (r = 0.451, p = 0.002). The multivariate regression analysis demonstrated that serum galectin-1 levels were significantly associated with fasting glucose and WC SDS. This study showed that obese children had significantly higher galectin-1 levels in proportion to fat mass in obese cases than those in healthy children, which may be interpreted as a compensatory increase in an attempt to improve glucose metabolism.

Ince D, Demirag B, Ataseven E, Oymak Y, Tuhan H, Karakus OZ, Hazan F, Abaci A, Ozer E, Mutafoglu K, Olgun N. Child with RET proto-oncogene codon 634 mutation. Turk J Pediatr 2017; 59: 590-593. Herein we reported a 7-year-old child with RET proto-oncogene c634 mutation. Her mother had been diagnosed with medullary thyroid carcinoma (MTC), and treated six years ago. Heterozygous mutation of the RET proto-oncogene at c634 had been detected in her mother. Genetic analysis showed the presence of the same mutation in our patient. Thyroid functions were normal. Serum calcitonin level was found mildly elevated. Parathormone (PTH) and carcinoembrionic antigen (CEA) levels were normal. Prophylactic thyroidectomy and sampling of cervical lymph nodes were performed. Histopathologic examination revealed hyperplasia in thyroid C cells, and reactive lymphadenopathy. The risk of MTC has been reported 100% through the life of patients with RET proto-oncogene mutation. It has been reported that particularly patients with c634 mutation have more risk of occurence of metastatic and progressive/recurrent MTC. Prophylactic `thyroidectomy, cervical lymph node dissection` before 5-years-of-age should be considered for these patients.

Contrast-induced acute kidney injury (CI-AKI) is associated with increased mortality, morbidity, and prolonged hospitalization. Patients with acute coronary syndrome (ACS) have a 3-fold higher risk of developing CI-AKI. The aim of our study was to evaluate the predictors of CI-AKI and long-term prognosis in patients with ACS who developed CI-AKI (1083 patients were enrolled). Contrast-induced acute kidney injury was defined as an increase of ≥0.5 mg/dL and/or an increase of ≥25% of pre-percutaneous coronary intervention (PCI) to post-PCI serum creatinine levels within 48 to 72 hours after the procedure. Primary end point was defined as all-cause mortality, myocardial infarction, and cerebrovascular event at long-term follow-up (36 ± 12 months). Contrast-induced acute kidney injury occurred in 178 (16.4%) of the 1083 patients. The primary end points were significantly high in patients with ACS who developed CI-AKI ( P < .001). The occurrence of CI-AKI was identified as an independent predictor of primary end point. Risk of CI-AKI development was more frequently seen in patients with ACS. Also, patients who developed CI-AKI have worse prognosis at long-term follow-up. Additional preventive treatment strategies need to be developed in this group of patients.

Summary Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. We describe a novel missense mutation c.814A > C (p. T272P) in NR5A1 gene which had not previously been reported. Also this report highlights that the potential diagnostic utility of next-generation sequencing is an effective strategy versus Sanger sequencing to identify genetic mosaicism in clinical practice.