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Purpose Because of the increase in globalization, clinicians all over the world are confronted the questions about safety of Ramadan fasting. However, there is no clear information about whether there is an obstacle for fasting patients with chronic disease. Hence, in the present study, we aimed to investigate the effects of Ramadan fasting on kidney and the factors affecting this relationship in patients with chronic kidney disease. Methods This study involving 117 patients [36 females, 81 males; mean age, 60 (46.0-70.0) years] with stage 2-3 chronic kidney and fasting. Patients were evaluated every 10 days for acute kidney injury (AKI) in Ramadan month. And, patients with acute kidney injury and patients without AKI were grouped. Results When the patients were evaluated for AKI, we observed that in 27 patients had acute kidney injury. While patients without AKI fasted for more days (p < 0.001), urea levels and frequency of hypertension were higher in the group with AKI (p = 0.019;p = 0.025 respectively). We also performed univariate and multiple binary logistic regression analysis to identify the risk factors of AKI. Hypertension and number of fasting day were found to be predictive of AKI (p = 0.02;p < 0.001 respectively). Conclusions We found a significant relationship between hypertension, the number of fasting days and acute kidney injury. Patients with chronic kidney damage and hypertension should be evaluated more carefully, informed about the importance of hydration after fasting and should be followed frequently for AKI.

Objective We investigated newly diagnosed patients with endogenous CS for molecular changes in skin by biopsy before and a year after treatment of CS. Patients and methods 26 Patients with CS and 23 healthy controls were included. All the patients were evaluated before and a year after treatment. Skin biopsies were obtained from abdominal region before and a year after treatment in patients with CS and once from healthy volunteers. Total RNA was isolated from the skin biopsy samples and the real-time PCR system was used to determine the expression levels of 23 genes in the skin biopsy. Results Skin expression levels of HAS 1, 2 and 3 mRNAs were lower and COL1A2, COL2A1, COL3A1 mRNAs were higher in patients with CS than in normal controls. MMP-9, TIMP-1 and elastin mRNA expression levels were similar in two groups. Skin IL-1 beta mRNA expression level was significantly higher in patients with CS. None of these parameters changed significantly 12 months after treatment. Patients with CS showed higher skin GH and HSD11B1 mRNA expressions and lower GHR and IGF-1R mRNA expression compared to control. Expression levels of IGF-1, GR and HSD11B2 mRNA were similar in two groups. None of these parameters changed significantly 12 months after treatment. Conclusion CS is associated with increased expression levels of skin COL1A2, COL2A1, COL3A1 mRNAs (which are correlated with increased expression level of skin GH mRNA). Decreased skin HAS may cause decreased synthesis of HA that contributes to thinning of skin in CS. Increased local inflammatory cytokine and HSD11B1 mRNAs may be related to the acne formation in CS. Treatment of CS was not able to reverse these changes and ongoing changes were detected after treatment.

© 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature.Activation of the hypothalamic–pituitary–adrenal (HPA) axis using an insulin tolerance test (ITT) is a medical diagnostic procedure that is frequently used in humans to assess the HPA and growth-hormone (GH) axes. Whether sex differences exist in the response to ITT stress is unknown. Thus, investigations into the analysis of transcripts during activation of the HPA axis in response to hypoglycemia have revealed the underlying influences of sex in signaling pathways that stimulate the HPA axis. We assessed four time points of ITT application in Balb/c mice. After insulin injection, expression levels of 192 microRNAs and 41 mRNAs associated with the HPA, GH and hypothalamic-pituitary-gonadal (HPG) axes were determined by real-time RT-PCR in the hypothalamus, pituitary and adrenal tissues, as well as blood samples (Raw data accession:https://drive.google.com/drive/folders/10qI00NAtjxOepcNKxSJnQbJeBFa6zgHK?usp=sharing). Although the ITT is commonly used as a gold standard for evaluating the HPA axis, we found completely different responses between males and females with respect to activation of the HPA axis. While activation of several transcripts in the hypothalamus and pituitary was observed after performing the ITT in males within 10 min, females responded via the pituitary and adrenal immediately and durably over 40 min. Additionally, we found that microRNA alterations precede mRNA responses in the HPA axis. Furthermore, robust changes in the levels of several transcripts including Avpr1b and Avpr2 observed at all time points strongly suggest that transcriptional control of these genes occurs mostly via differential signaling in pituitary and blood between males and females. Male and female HPA axis responses to ITT involve a number of sophisticated regulatory signaling pathways of miRNAs and mRNAs. Our results highlight the first robust markers in several layers of HPA, HPG and GH axis involved in ITT/hypoglycemia stress-induced dynamics.

Background Flow cytometric analysis of the lymphocyte subsets has become one of the most commonly used techniques in the routine clinical laboratory. It is frequently used in monitoring lymphocyte recovery after hematopoietic stem cell transplantation (HSCT), as well as diagnosis and treatment of acquired immunodeficiency syndrome (AIDS). Reliable biological variation (BV) data is needed for safe clinical application of these tests. In this study, similar preanalytical and analytical protocols to the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) checklist were followed and a stringent statistical approach was applied to define BV of T-lymphocytes. Methods During the 10 weeks study period, weekly blood samples were obtained from 30 healthy individuals (20 females, 10 males) and analyzed with Facs Canto (BD Biosciences, San Jose, CA, USA) analyzer using 4-colour BD Multitest CD3/CD8/CD45/CD4 reagents. Data were assessed in terms of normality, tendencies, outliers and variance homogeneity prior to applying coefficient of variance (CV)- analysis of variance (ANOVA) test. Sex-stratified within-individual (CVI) and between-individual (CVG) BV estimates of CD3+, CD3 + CD4+, CD3 + CD8+, and CD3 + CD4 + CD8+ T lymphocytes were calculated. Results No difference was found between males and females. Except for the CD3 + CD4 + CD8+ subset, stable BV was found for CD3+, CD3 + CD4+, and CD3 + CD8+ subsets. Conclussion Instead of using the conventional reference ranges of CD3+, CD3 + CD4+ and CD3 + CD8+ counts for monitoring HIV positive or post-HSCT patients, RCV should be used. Because individualityis characteristic of lymphocytes subsets RCVs should be used instead of RIs for patient monitoring.

To evaluate the accuracy of US in calculating renal volumes and renal resistive index (RRI) that was obtained using a new method in patients with autosomal dominant polycystic kidney disease (ADPKD). In this prospective study, US and MRI were performed in 57 patients with ADPKD (31 female and 26 male; age range, 19–79 years) between August 2017 and May 2018. The volumes determined using US and MRI were compared. The ellipsoid formula was re-evaluated using different multipliers. RRI was obtained 1.5–2 cm distal to the outlet of main renal arteries. The relationship between mean RRI, renal function tests, and kidney volumes and difference between mean RRI of ADPKD patients with and without renal failure were investigated using a two-sided independent samples t test and Pearson correlation test. Interobserver agreements for volume assessments and RRI measurements were determined. By changing the ellipsoid formula, a very good agreement was found (ICC 0.970 for the right kidney and ICC 0.973 for the left kidney). The mean RRI in the right renal artery was 0.61 ± 0.07 and in the left renal artery 0.63 ± 0.06. The mean RRI of ADPKD patients with renal failure was significantly higher than that of patients without renal failure (p = 0.005). There was a significant correlation between mean RRI and renal function tests. The accuracy of the US in calculating renal volumes increases by adapting the ellipsoid formula. RRI may be used for the management of ADPKD independently of volumes. •The accuracy of ultrasonography for renal volume measurement increases by changing the classical ellipsoid formula. •Renal resistive index measured by color Doppler ultrasonography is helpful for the management of autosomal dominant polycystic kidney disease. •The role of Doppler US in autosomal dominant polycystic kidney disease should increase as a result of our findings.

Background Several factors play a role in the pathogenesis of pruritus in uremic patients. The pathophysiology is complex and many factors have been identified in these patients. The aim of this study was to investigate the presence, severity, and possible causes of pruritus in patients with peritoneal dialysis (PD) . Methods Eighty patients, who received continuous ambulatory peritoneal dialysis (CAPD) treatment, were included in this study. Biochemical measurements, parathormone, C-reactive protein (CRP), and vitamin B12 levels of all the patients were recorded. Furthermore, substance P (SP) levels were measured by ELISA methods. Patients were examined by a dermatologist and pruritus degrees were queried using the visual analog score (VAS) with skin dryness. Results In generalized linear model analysis, total urea clearance and SP independently predicted VAS scores. SP was significantly predictive in ROC analysis in identifying the VAS score in patients with peritoneal dialysis. The sensitivity and specificity of SP were 80% and 67% (cut-off > 364), respectively, with an area under the ROC curve of 0.757 (95% CI 0.650-0.865, p < 0.001). SP also was significantly predictive in ROC analysis in identifying xerosis in PD patients. Conclusion Pruritus was proportional to the amount of substance P and total urea clearance was another reason affecting pruritus in peritoneal dialysis patients.

The total serum 25-hydroxyvitamin D [25(OH)DT] level is lower in obese individuals than in their nonobese peers, despite similar bone turnover markers and bone mineral density. This study aimed to investigate whether the threshold level of 25(OH)D for the diagnosis of vitamin D deficiency (VDD) in obese adolescents was lower than that in controls and to compare 25(OH)DT, free [25(OH)DF] and bioavailable [25(OH)DB] vitamin D with VDBP levels in obese individuals and their controls. A total of 173 adolescents (90 obese individuals and 83 controls) aged 12–18 years were included in the study. The metabolic and anthropometric parameters of the participants were recorded, the 25(OH)DT, 25(OH)DF, and VDBP levels were measured, and the 25(OH)DB levels were calculated. The cutoff values for VDD were estimated according to the level of 25(OH)D below which parathyroid hormone begins to rise. The obese subjects had lower 25(OH)DT (12.1 ± 5.8 vs. 16.4 ± 9.3 ng/mL, p < 0.001), 25(OH)DF (12.6 ± 4.2 vs. 16.7 ± 7.6 pg/mL, p < 0.001), 25(OH)DB [4.8 (2.3) vs. 6.1 (5.2) ng/mL, p = 0.012], and VDBP [112.2 (51.3) vs. 121.9 (95.5) μg/mL, p < 0.001] levels than the controls. The cutoff values for 25(OH)DT and 25(OH)DF levels for VDD were lower in the obese group than in the control group (9.4 vs. 14.1 ng/mL; 12.2 vs. 16.8 pg/mL, respectively). Conclusion: The vitamin D cutoff values for the diagnosis of VDD were different in the obese and control groups. Using the same cutoff value for VDD may cause overtreatment in obese adolescents., CÜBAP

Background and Objectives: Cyst pressure induces renin-angiotensin-aldosterone system activation and kidney hypoxia in autosomal dominant polycystic kidney disease (ADPKD). Lipopolysaccharide-induced Toll-like receptor activation causes metabolic disturbances that are triggered by increased succinate levels and hypoxia inducible factors, which results in inflammation via IL-1β activation. Since we aimed to investigate the role of both inflammation and hypoxia in the clinical course of ADPKD, via succinate levels from sera samples, HIF-1α gene expression from whole blood and urine samples and IL-1βgene expression from whole blood were measured. Methods: One hundred ADPKD patients and 100 matched healthy controls were enrolled to this cross-sectional study. Twenty-four-hour ambulatory blood pressure monitoring was conducted in all participants. Blood, serum, and urine samples were taken after 12-h fasting for the measurement of biochemical parameters and succinate levels. Whole blood and urine samples were used for HIF-1α and IL-1β geneexpression by using quantitative real-time PCR. Results: There were significant differences in whole blood HIF-1α, IL-1β geneexpression, and serumsuccinate levels between the ADPKD patients and the control subjects. Whole blood HIF-1αgene expression, IL-1β geneexpression, and serumsuccinate levels were also significantly different in ADPKD patients with hypertension in comparison with normotensive ones (p < 0.05). Serum succinate levels and blood IL-1β geneexpression were increased in ADPKD patients with high levels of HIF-1α geneexpression (p = 0.018 and p = 0.029, respectively). Conclusions: Increased age,low eGFR, and HIF-1α and IL-1β geneexpressions were also independently associated with hypertension in ADPKD patients. Inflammation and hypoxia are both relevant factors that might be associated with hypertension in ADPKD.

This study aimed to investigate the relationship between fluid and sodium excretion and blood pressure, echocardiographic parameters, and arterial stiffness in peritoneal dialysis (PD) patients and to evaluate the effect of sodium excretion on patients’ survival. This study was conducted as a single-centered, prospective study in the Department of Nephrology in Erciyes University. The patients included in the study were followed up for 3 years. Seventy PD patients were included in the study. We recorded demographic characteristics, biochemical parameters, urine and peritoneal ultrafiltration volumes, peritoneal equalization tests, ambulatory blood pressure measurements, and echocardiographic measurements. We measured the amount of total sodium excretion of the patients and arterial stiffness using pulse wave velocity (PWV). Patients were divided into two groups based on the amount of total sodium excretion: low group and high group. We compared these groups in terms of cardiac and biochemical parameters. When demographic data and biochemical values were compared, there was no significant difference between the two groups. NT-proBNP level, systolic blood pressure, and mean arterial pressure were significantly higher in the low group (p: 0.02, p: 0.031, p: 0.05, respectively). Net ultrafiltration was significantly higher in the high group (p: 0.03), was also found to be high in patients with high sodium excretion (p: 0.001). Negative correlations were found between sodium excretion and net ultrafiltration, NT-Pro BNP, and PWV. At the end of the 3-year follow-up, the survival rate was shorter and the mortality rate was higher in the low group (p: 0.042). Fluid status in PD patients can affect arterial stiffness both directly and through hypertension. Correction of hypervolemia has the potential to not only prevent hypertension and left ventricular hypertrophy, but also to improve arterial stiffness, a well-known cardiovascular risk factor. The mortality rate was higher in PD patients with low total sodium excretion. Therefore, these patients should be followed more closely to ensure volume control.

Background Neointimal hyperplasia is the main cause of arteriovenous fistula (AVF) failure. Hypoxia-inducible factors (HIFs) factors are associated with neointimal hyperplasia. Thus, we investigated the association between HIF-2 alpha (HIF-2 alpha) and AVF maturation in end-stage kidney disease (ESKD) patients. Methods This prospective cohort study was conducted in 21 voluntary healthy subjects and 50 patients with ESKD who were eligible for AVF creation. Inclusion criteria were being ESKD patients without a history of AVF surgery and dialysis. Eight patients excluded from the study due to having unavailable veins six patients were excluded due to acute thrombosis after surgery. One patient lost to follow-up. A total of 35 patients were included in final analysis. The blood samples were collected a day before the AVF surgery for biochemical parameters and HIF-2 alpha measurement. HIF-2 alpha levels were measured by the ELISA method. Results Compared with healthy subjects, ESKD patients had a significantly higher level of HIF-2 alpha. [1.3 (1.0-1.9) vs 2.2 (1.6-3.0)] (P = .002). Patients were divided into two groups after the evaluation of AVF maturation, as the mature group (n = 19) and the failure group (n = 16). Serum HIF-2 alpha level was 1.7 (1.1-1.8) in the mature group; however, it was 3.1 (2.8-3.3 in failure group (P .001). Multiple logistic regression analyses showed that HIF-2 alpha independently predicted AVF maturation. The ROC curve analysis showed that HIF-2 alpha > 2.65 predicted AVF maturation failure with the 87% sensitivity and 94% specificity [AUC:0.947, 95% CI (0.815-0.994),P .001]. Conclusions HIF-2-alpha levels were higher in ESKD patients than healthy subjects. HIF-2-alpha could be a marker of AVF maturation failure.

Stroke is rarely seen in children, but it is a major cause of morbidity and mortality. Therefore, there is a need for inexpensive and noninvasive diagnostic methods for estimating the prognosis. Although the prognostic importance of hematological parameters in acute ischemic stroke were reported in adult studies, there is a lack in pediatric ages. The aim of the study is to investigate the relationship between hematological parameters and prognosis of acute ischemic stroke in children. Retrospectively scanned in the study were 106 pediatric patients with acute ischemic stroke who managed at the Medical Faculty of Erciyes University, Kayseri, between the years of 2000 and 2014. White blood count (WBC); neutrophil, lymphocyte, and platelet count; mean platelet volume (MPV); platelet distribution width (PDW); neutrophil count/lymphocyte count (N/L) ratio values obtained from the measurements and initial symptoms; demographical features; risk factors; neurological examination; and clinical follow-up were recorded. Their hematological parameters were compared with those of 106 age and sex-matched healthy individuals. MPV and PDW values were found similar in patient and control groups, and the platelet count was found significantly low in the control group (p = 0,028). WBC, neutrophil count, and N/L ratio were found considerably high in the patient group (p

Objective To compare updated weight and height percentiles of 6-17-year-old children from all socio-economic levels in Kayseri with previous local references and other national/international data. Methods The second study "Determination of Anthropometric Measurements of Turkish Children and Adolescents study (DAMTCA II)" was conducted in Kayseri, between October 2007 and April 2008. Weight and height measurements from 4321 (1926 boys, 2395 girls) school children aged between 6 to 17 years were included in this cross-sectional study. Using these data, weight and height percentile curves were produced with generalized additive models for location, scale and shape (GAMLSS) and compared with the most recent references. Results Smoothed percentile curves including the 3rd, 5th, 10th, 15th, 25th, 50th, 75th, 85th, 90th, 95th, and 97th percentiles were obtained for boys and girls. These results were compared with DAMTCA I study and with two national (Istanbul and Ankara) and international data from Asia and from Europe. Conclusion This study provides updated weight and height references for Turkish school children aged between 6 and 17 years residing in Kayseri.

Autosomal-dominant polycystic kidney disease (ADPKD) is associated with oxidative stress and hypertension development before renal function decline and cardiovascular disease development. Oxidative stress-responsive kinase-1 (OSR-1) participates in the signaling regulating Na+ transport during oxidative stress and also plays a role in the regulation of cell volume and blood pressure. Therefore, we aimed to investigate the potential role of OSR-1 in ADPKD patients. Eighty ADPKD patients, 80 healthy controls, and 80 non-ADPKD patients with hypertension were enrolled in this cross-sectional study. Twenty-four-hour ambulatory blood pressure monitoring was conducted in all participants. Blood samples were taken after 12-h fasting for the measurement of biochemical parameters and OSR-1 gene expression. Vascular dysfunction was assessed using ischemia-induced forearm flow-mediated vasodilation (FMD). Briefly, of the 80 ADPKD patients, 41(51%) were male, and 53(66%) of them were hypertensive. The mean age of the 80 controls was 35.3 +/- 12.6 years, and 37(46%) of them were male. The mean age of the 80 non-ADPKD patients with hypertension was 44.6 +/- 11.9 years, and 38(47.5) of them were male. There were significant differences in serum OSR-1 gene expression between the ADPKD patients and the control subjects. Serum OSR-1 gene expression was also significantly increased in hypertensive ADPKD patients in comparison with both normotensive ADPKD counterparts and non-ADPKD hypertensive subjects. Serum OSR-1 gene expression was increased in patients with ADPKD than healthy subjects. Low estimated glomerular filtration rate (eGFR), OSR-1 gene expression, total kidney volume (TKV), and high-density lipoprotein (HDL) were also independently associated with hypertension in ADPKD patients.

Background Urinary tract infections (UTI) are one of the important clinical presentations in patients with autosomal dominant polycystic kidney disease (ADPKD). The association between UTI among genotypic and phonotypic properties of ADPKD patients is still obscure. Thus, we investigated the relationship between UTI and polycystin gene mutation with total kidney volume. Methods Forty patients with ADPKD patients with a history of more than two UTI and age-gender-matched 40 ADPKD patients without UTI history enrolled in the study. Ambulatory blood pressure monitoring was performed in all participants. Magnetic resonance imaging (MRI) was performed with a 1.5-T system, and total kidney volumes were calculated using mid-slice technique. To determine PKD1 and PKD2 genotype, we performed molecular and genetic tests involving the following steps: DNA isolation, next-generation sequencing (NGS) and data analysis. Results ADPKD patients with UTI had lower eGFR values than those without UTI [64.9 (32.2-100.8) vs 89.5 (59.0-110.0) (p = 0.041)]. In addition, patients with UTI had significantly increased height-adjusted total kidney volume than patients without UTI [950 (290-1350) vs 345 (243-780.0) (p = 0.005)]. Multiple logistic regression analysis showed that the PKD1-truncating mutation and hTKV independently predicted UTI. The sensitivity and specificity of hTKV were 65% and 77% (cutoff > 727 cm(3)) with an area of under the ROC curve of 0.70 (95% CI 0.56-0.85, p = 005). Conclusions ADPKD patients with larger kidneys and PKD1 mutation are susceptible to increased risk of multiple UTI. Additionally, renal function decreased in ADPKD patients with multiple UTI history.

Objective In the current study, it was aimed to investigate the relationship between BDNF gene expression and childhood suicide attempt, childhood traumatic experiences, and problem-solving skills in children and adolescents. Methods The suicide group consisted of 100 children and adolescents aged 11–18 years who were referred to our outpatient department due to suicide attempt. For further comparisons, 100 children and adolescents who have no any psychiatric diagnosis were referred to our same outpatient department were selected. A sociodemographic data form, the Schedule for Affective Disorders and Schizophrenia for School-Age Children- Present and Lifetime version (K-SADS-PL), the Suicide Intent Scale (SIS), Problem Solving Inventory (PSI), and the Childhood Trauma Questionnaire (CTQ) were used for both groups. Total RNA was isolated from whole blood samples and BDNF gene expression levels were measured using quantitative real time-polymerase chain reaction (QRT-PCR). Results The total and subscale scores of the PSI and CTQ were found to be significantly higher in the suicide group than in the control group. There was no significant difference between the groups in terms of BDNF gene expression levels. However, gene expression of BDNF was found significantly increased in patients who have any psychiatric disorder compared with the others. Conclusion Our results indicate that BDNF gene expression could be more associated with psychiatric disorders rather than suicide attempt in children and adolescents.

Purpose: To examine brain diffusion characteristics in pediatric patients with attention deficit hyperactivity disorder (ADHD) using diffusion tensor imaging (DTI) and an atlas-based anatomical analysis of the whole brain and to investigate whether these images have unique characteristics that can support functional diagnoses. Materials and Methods: Seventeen children with ADHD and ten control subjects (all age-matched) underwent MRI scans. The Institutional Ethics Board approved this study. Morphometric analysis was performed using MriStudio software. The diffusion images were normalized using a linear transformation, followed by large deformation diffeomorphic metric mapping (LDDMM). For 189 parcellated brain regions, the volume, fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were measured. Results: Children with ADHD were found to have increase in the body of lateral ventricle volumes compared to the control. Increased MD was found in the deep gray matter, amygdala, thalamus, substantia nigra, and also the cerebellum left and right side. Increased RD was found in the deep gray matter, caudate, thalamus, substantia nigra and hippocampus left and right side compared to the control. Significant elevated FA was found in the bilateral splenium of the corpus callosum in ADHD patients. Conclusion: Children with ADHD display abnormal diffusion characteristics and anatomical features compared to healthy controls. DTI can provide sensitive information on integrity of white matter (WM) and intra-WM structures in ADHD.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cause of chronic kidney disease. The intriguing role of innate immune system and inflammation become a target for potential therapeutic approach to slow progression. When toll-like receptors (TLRs) signaling and their receptors activate, they start a cascade of intracellular signaling that induces the production of the inflammatory cytokines and chemokines. Thus, we aim to investigate the association of TLRs between progression of ADPKD. Ninety ADPKD patients and ninety matched controls were enrolled this prospective study and were followed during 3 years. TLR-2 and TLR-4 gene polymorphisms and expressions were measured. Hypertension was diagnosed with ambulatory blood pressure monitoring. Rapid progression was defined as sustained decline in estimated glomerular filtration rate (eGFR) of more than 5 mL/min per 1.73 m2 per year. TLR-4Asp299Gly polymorphisms were significantly different between patient and control group (P

Iron overload results in increased infection, venous-oclusive disease and hepatic dysfunction in allogeneic hematopoietic stem cell transplant (alloHSCT) recipients. Liver is one of the most common sites of iron overload.A total of 50 alloHSCT recipients that underwent liver biopsy in Erciyes Stem Cell Transplantation Hospital, Erciyes University, between 2004 and 2011 were enrolled in the study. The liver biopsy specimens have been obtained from the archives of Erciyes University, Department of Pathology and stainned for iron content.The mean age was found 34 ± 11 years. For median overall survival (OS); 53 months (min-max: 41-65) in patients with grade 0, 55 months (min-max: 47-64) in patients with grade 1, in patients with grade 2 patients 25.4 months (11.5-39.4 ), grade 3 patients 29.3 months (min-max: 12.3-46.3) and grade 4 patients 2.6 months (min-max: 2.0-3.3). Overall survival was correlated with the degree of liver iron content and it was statistically significant in Kaplan-Meier analysis (P.001). Disease-free survival was found (DFS); grade 0 patients 47.1 months (min-max: 32.0-62.0), grade 1 patients 36.9 months (min-max: 21.0-65.0), grade 2 patients 23.5 months (min-max: 12.0-59.0), grade 3 patients 27.4 months (min-max: 5.3-59.3) and grade 4 patients 2.6 months (min-max: 2.0-3.0). For DFS; it was negatively correlated with the degree of liver iron content nevertheless; it was not was statistically significant in Kaplan-Meier analysis (P = .093).Hepatic iron overload might be associated with poor survival in patients with transfusional iron overload that underwent alloHSCT.Hepatic iron content might be associated with poorer prognosis in patients with iron overload that underwent alloHSCT.

Purpose To evaluate the safety and efficacy of accelerated corneal crosslinking (CXL) in patients with progressive keratoconus aged 18 years or less. Methods A total of 28 eyes from 19 patients with progressive keratoconus aged 18 years or less were enrolled. We divided participants into 2 groups according to corneal thickness (CT). Group 1 included 13 eyes of 8 patients with CT ≥450 µm; group 2 included 15 eyes of 11 patients with CT 2 for a total energy dose of 5.4 J/cm2. The efficacy and safety of the procedure were assessed postoperatively at 1, 3, 6, and 12 months with Pentacam and visual acuity. Results In uncorrected visual acuity, group 1 showed a statistically significant +0.12 logMAR improvement at 3 months postoperatively (p = 0.003), and in group 2, there was a statistically significant +0.3 logMAR improvement at 1 month postoperatively (p = 0.005). In best-corrected visual acuity, there was a +0.15 logMAR (pConclusions The findings showed that accelerated CXL treatment seems to be effective in slowing or halting the progression of keratoconus and that no permanent apparent complications are noted 6 months after accelerated CXL.

We aimed to evaluate the differences in the corneas of eyes with isolated iris coloboma.This study was designed as a prospective study. Among patients who applied to our hospital within the last 3-year period, those with isolated iris coloboma in one eye and a completely normal contralateral eye were included in the study. In addition to a complete ophthalmologic examination, all patients were scanned by Pentacam Scheimpflug camera in the dark, and a corneal endothelium cell count was taken using a Topcon Specular Microscope. Data entered using SPSS software were then evaluated by paired t-test; p0.05 value was considered statistically significant.Nine patients, seven men and two women, with a mean age of 35.77 ± 22.50 (range 8-60) years, were included in the study. In comparison to normal eyes, the colobomatous eyes were statistically found to have lower keratometry values in diopters (43.82 ± 2.17, 44.46 ± 1.86; p = 0.040), a greater negative asphericity (Q value) (-0.38 ± 0.07, -0.22 ± 0.20; p = 0.042), increased corneal thickness (569.78 ± 25.42, 537.33 ± 27.36; p0.001), decreased anterior chamber depth (2.50 ± 0.32, 2.81 ± 0.50; p = 0.005), a shallower angle (30.51 ± 10.68, 35.29 ± 9.99; p = 0.057), higher best-fit sphere (BFS) values of the anterior and posterior corneal surfaces (7.88 ± 0.39, 7.67 ± 0.37; p = 0.001; 6.40 ± 0.26, 6.23 ± 0.19; p = 0.006), larger pupil diameter (3.48 ± 0.49, 2.80 ± 0.34; p = 0.001), smaller horizontal corneal diameter (HCD) (11.06 ± 0.42; 11.26 ± 0.45; p = 0.009), and higher value of endothelial cell density (ECD) (3161 ± 431; 2923 ± 590; p = 0.031).We have determined that a number of factors such as keratometry values, particularly of the corneal endothelium, are different from those of normal eyes. These differences should be taken into account in the follow-up and treatment of eyes with iris coloboma.

Purpose: To investigate thickness of the retinal nerve fiber layer (RNFL) and choroid thickness in patients with pseudoexfoliation syndrome (PEX) and pseudoexfoliation glaucoma (PXG) compared to healthy volunteers. Methods: This cross-sectional, prospective study included 43 patients with PXG, 45 patients with PEX syndrome, and 48 healthy volunteers. The RNFL and macular thickness were analyzed with standard OCT protocol while choroidal thickness was analyzed with EDI protocol in all subjects. Results: The RNFL thickness was higher in the PEX and control groups compared to the PXG group (p

WOS: 000372329600005, Objective: Factor V (FV) (1691 G-A) and methylenetetrahydrofolate reductase (MTHFR) (677 C-T) mutations have been identified as potential risk factors for cardiovascular disease. In this study, we determined vitamin B-12, folate, and total homocysteine t(Hcy) concentrations in heterozygote MTHFR (677 C-T) and FV (1691 G-A) mutation-carrying individuals. Materials and Methods: The study included a total of 74 individuals with MTHFR (677 C-T) or FV (1691 G-A) mutations and 70 controls. All subjects had the history of thromboembolic disease. t(Hcy), folate, and vitamin B-12 concentrations were compared between the groups. Results: A significant difference was found in vitamin B-12 and folate concentrations between patients and controls in the MTHFR (677 C-T) group (p=0.041, p=0.049, respectively). Further, t(Hcy) concentrations were found to be higher in patients than in controls in the FV (1691 G-A) mutation-carrying group (p=0.002). No significant difference was found between the groups in relation with gender in both mutations. Conclusion: t(Hcy) concentrations should be assessed to decrease the risk of future venous thromboembolism in the presence of heterozygote FV (1691 G-A) mutation.

Background and Objective: In the last decade, RNA-sequencing technology has become method-of-choice and prefered to microarray technology for gene expression based classification and differential expression analysis since it produces less noisy data. Although there are many algorithms proposed for microarray data, the number of available algorithms and programs are limited for classification of RNA-sequencing data. For this reason, we developed MLSeq, to bring not only frequently used classification algorithms but also novel approaches together and make them available to be used for classification of RNA sequencing data. This package is developed using R language environment and distributed through BIOCONDUCTOR network. Methods: Classification of RNA-sequencing data is not straightforward since raw data should be preprocessed before downstream analysis. With MLSeq package, researchers can easily preprocess (normalization, filtering, transformation etc.) and classify raw RNA-sequencing data using two strategies: (i) to perform algorithms which are directly proposed for RNA-sequencing data structure or (ii) to transform RNA-sequencing data in order to bring it distributionally closer to microarray data structure, and perform algorithms which are developed for microarray data. Moreover, we proposed novel algorithms such as voom (an acronym for variance modelling at observational level) based nearest shrunken centroids (voomNSC), diagonal linear discriminant analysis (voomDLDA), etc. through MLSeq. Materials: Three real RNA-sequencing datasets (i.e cervical cancer, lung cancer and aging datasets) were used to evalute model performances. Poisson linear discriminant analysis (PLDA) and negative binomial linear discriminant analysis (NBLDA) were selected as algorithms based on dicrete distributions, and voomNSC, nearest shrunken centroids (NSC) and support vector machines (SVM) were selected as algorithms based on continuous distributions for model comparisons. Each algorithm is compared using classification accuracies and sparsities on an independent test set. Results: The algorithms which are based on discrete distributions performed better in cervical cancer and aging data with accuracies above 0.92. In lung cancer data, the most of algorithms performed similar with accuracies of 0.88 except that SVM achieved 0.94 of accuracy. Our voomNSC algorithm was the most sparse algorithm, and able to select 2.2% and 6.6% of all features for cervical cancer and lung cancer datasets respectively. However, in aging data, sparse classifiers were not able to select an optimal subset of all features. Conclusion: MLSeq is comprehensive and easy-to-use interface for classification of gene expression data. It allows researchers perform both preprocessing and classification tasks through single platform. With this property, MLSeq can be considered as a pipeline for the classification of RNA-sequencing data. Erciyes Üniversitesi: TDK-2015-5468 We would like to thank S. Anders, M.I. Love and the BIOCONDUCTOR team for their useful comments, suggestions and support to improve the usefulness of the package. This study was supported by the Research Fund of Erciyes University [TDK-2015-5468]. We also would like to thank Sumeet Pal Singh for sharing the aging dataset which is used in the illustration of MLSeq package. Finally, we would like to thank anonymous reviewers for their contribution and valuable comments. 2-s2.0-85064937612 PubMed: 31104710

Autism spectrum disorder (ASD) is characterized by repetitive stereotypic behaviors, restricted interests, social withdrawal, and communication deficits. Aggression and insensitivity to pain are largely unexplained in these cases. We analyzed nine mRNA expressions of the candidate genes related to aggression and insensitivity to pain in the peripheral blood of patients with ASD. Whole blood samples were obtained from 40 autistic patients (33 boys, 7 girls) and 50 age- and sex-matched controls (37 boys and 13 girls) to isolate RNA. Gene expression was assessed by quantitative Real-Time PCR (qRT-PCR) in the Erciyes University Genome and Stem Cell Center (GENKOK). All of the gene expressions except CRHR1 and SLC6A4 were found to be statistically different between the ASD patients and controls. Gene expression also differed according to gender. Alterations in the mRNA expression patterns of the HTR1E, OPRL1, OPRM1, TACR1, PRKG1, SCN9A and DRD4 genes provide further evidence for a relevant effect of the respective candidate genes on the pathophysiology of ASD. Future studies may determine the sensitivity of these candidate markers in larger samples including further neuropsychiatric diagnosis.

Background: Breast cancer is a heterogeneous disease with different molecular and histologic subtypes, clinical behaviors and prognosis. The same stage of disease and similar histopathological characteristics may show different treatment responses. Identification of breast cancer subtypes has become important for planning the targeted therapy and personalized management of patients. Objectives: To compare the clinicopathologic findings, dynamic contrast enhanced-magnetic resonance imaging (DCE-MRI) characteristics and associated MRI findings among breast cancer molecular subtypes. Patients and Methods: 267 pathologically proven invasive breast cancers in 263 patients were included. Clinicopathological findings, DCE-MRI findings and associated MRI findings were retrospectively evaluated and compared among breast cancer subtypes. Results: Invasive ductal carcinoma was the most common histological tumor type (87.6%). There were 222 (83.1%) masses and 45 (16.9%) non-mass enhancements. The molecular subtypes were luminal A in 174 (65.1%), luminal B in 45 (16.9%), human epidermal growth factor receptor 2 (HER2) positive in 24 (9%) and triple negative (TN) in 24 (9%) of the lesions. Spiculated mass margin was significantly associated with luminal A breast cancer (45.2%) and irregular shape was significantly more common in luminal A (86.3%) and luminal B lesions (95.1%) (P < 0.001). Larger mass size (P= 0.027), non-mass enhancement (P= 0.005), perilesional+ prepectoral edema and skin + perilesional+ prepectoral edema were significantly associated with HER2 positive breast cancer (P= 0.001). Higher histological grade, oval mass shape, circumscribed mass margin, intratumoral high/very high signal intensity on T2 weighted image (T2WI) were significantly associated with TN breast cancer (P < 0.001). Conclusion: Histological grade, size and morphological features of masses on DCE-MRI, intratumoral signal intensity on T2WI and edema pattern would be helpful to distinguish breast cancer subtypes. WOS:000447183800014

The prominent features of autosomal dominant polycystic kidney disease (ADPKD) are early development of hypertension, chronic kidney disease and cardiovascular problems. Thus, we aimed to investigate the role of endothelin, a vascular biomarker, in the clinical course of ADPKD, including renal and cardiovascular survival. In 138 patients with ADPKD and 28 healthy controls, we measured serum endothelin-1 (ET-1) levels by enzyme-linked immunosorbent assay (ELISA). Endothelium-dependent vasodilatation (flow-mediated dilatation, FMD) and endothelium-independent vasodilatation (nitroglycerin-mediated dilatation, NMD) of the brachial artery were assessed non-invasively with high-resolution ultrasound. Magnetic resonance imaging (MRI) was performed with a 1.5-T system, and total kidney volumes were calculated using mid-slice technique. To determine PKD1 and PKD2 genotype, we performed molecular and genetic tests involving the following steps: DNA isolation, next-generation sequencing (NGS) and data analysis. Endothelin levels and height-adjusted total kidney volumes (hTKV) significantly increased while the estimated glomerular filtration rate (eGFR) decreased across CKD stages 1–4. Hypertension was more frequent in ADPKD patients with high serum endothelin. At multivariate Cox analysis, endothelin level, PKD1 truncating mutation, hTKV, high-sensitive C reactive protein (hs-CRP) level and the presence of diabetes mellitus were associated with the risk of overall survival. Moreover, endothelin level, PKD1 truncating mutation, hTKV, age and presence of hypertension were associated with the risk of renal survival. Additionally, body mass index (BMI), FMD, PKD1 truncating mutation, endothelin and triglyceride levels were independently associated with hypertension. Increased serum endothelin levels independently predict hypertension in ADPKD. Serum endothelin levels are also associated with both renal and overall survival in patients with ADPKD.

Classical autism belongs to a group of heterogeneous disorders known as autism spectrum disorders (ASD). Autism is defined as a neurodevelopmental disorder, characterized by repetitive stereotypic behaviors or restricted interests, social withdrawal, and communication deficits. Numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism but the etiology of this disorder is unknown in many cases. CC2D1A gene has been linked to mental retardation (MR) in a family with a large deletion before. Intellectual disability (ID) is a common feature of autistic cases. Therefore we aimed to investigate the expressions of CC2D1A and HTR1A genes with the diagnosis of autism in Turkey. Forty-four autistic patients (35 boys, 9 girls) and 27 controls were enrolled and obtained whole blood samples to isolate RNA samples from each participant. CC2D1A and HTR1A gene expressions were assessed by quantitative Real-Time PCR (qRT-PCR) in Genome and Stem Cell Center, Erciyes University. Both expressions of CC2D1A and HTR1A genes studied on ASD cases and controls were significantly different (p < 0.001). The expression of HTR1A was undetectable in the ASD samples. Comparison of ID and CC2D1A gene expression was also found statistically significant (p = 0.028). CC2D1A gene expression may be used as a candidate gene for ASD cases with ID. Further studies are needed to investigate the potential roles of these CC2D1A and HTR1A genes in their related pathways in ASD.

Age-associated deterioration of cellular physiology leads to pathological conditions. The ability to detect premature aging could provide a window for preventive therapies against age-related diseases. However, the techniques for determining cellular age are limited, as they rely on a limited set of histological markers and lack predictive power. Here, we implement GERAS (GEnetic Reference for Age of Single-cell), a machine learning based framework capable of assigning individual cells to chronological stages based on their transcriptomes. GERAS displays greater than 90% accuracy in classifying the chronological stage of zebrafish and human pancreatic cells. The framework demonstrates robustness against biological and technical noise, as evaluated by its performance on independent samplings of single-cells. Additionally, GERAS determines the impact of differences in calorie intake and BMI on the aging of zebrafish and human pancreatic cells, respectively. We further harness the classification ability of GERAS to identify molecular factors that are potentially associated with the aging of beta-cells. We show that one of these factors, junba, is necessary to maintain the proliferative state of juvenile beta-cells. Our results showcase the applicability of a machine learning framework to classify the chronological stage of heterogeneous cell populations, while enabling detection of candidate genes associated with aging.

The Protein Data Bank (PDB) is the single worldwide archive of experimentally-determined three-dimensional (3D) structures of proteins and nucleic acids. As of January 2017, the PDB housed more than 125,000 structures and was growing by more than 11,000 structures annually. Since the 3D structure of a protein is vital to understand the mechanisms of biological processes, diseases, and drug design, correct oligomeric assembly information is of critical importance. Unfortunately, the biologically relevant oligomeric form of a 3D structure is not directly obtainable by X-ray crystallography, whilst in solution methods (NMR or single particle EM) it is known from the experiment. Instead, this information may be provided by the PDB Depositor as metadata coming from additional experiments, be inferred by sequence-sequence comparisons with similar proteins of known oligomeric state, or predicted using software, such as PISA (Proteins, Interfaces, Structures and Assemblies) or EPPIC (Evolutionary Protein Protein Interface Classifier). Despite significant efforts by professional PDB Biocurators during data deposition, there remain a number of structures in the archive with incorrect quaternary structure descriptions (or annotations). Further investigation is, therefore, needed to evaluate the correctness of quaternary structure annotations. In this study, we aim to identify the most probable oligomeric states for proteins represented in the PDB. Our approach evaluated the performance of four independent prediction methods, including text mining of primary publications, inference from homologous protein structures, and two computational methods (PISA and EPPIC). Aggregating predictions to give consensus results outperformed all four of the independent prediction methods, yielding 83% correct, 9% wrong, and 8% inconclusive predictions, when tested with a well-curated benchmark dataset. We have developed a freely-available web-based tool to make this approach accessible to researchers and PDB Biocurators (http://quatstruct.rcsb.org/).

Objectives: Medication-related osteonecrosis of the jaw (MRONJ) is a severe side effect of antiresorptive agents. The aim of this study was to investigate the osseous changes in patients with MRONJ. Methods: Cone beam CT (CBCT) images of 25 patients with MRONJ and controls were retrospectively evaluated. Buccal, lingual, apical cortical bone thicknesses; buccal, lingual, apical intracortical and cancellous bone density; diameter of mental foramen and incisive canal, and width of mental foramen were measured. Results: Buccal and apical cortical bone thicknesses were increased; however intracortical radiodensity values decreased in the Study Group when compared with the Control Group (p = 0.007, p = 0.001). Narrowing of incisive canal was observed in patients with MRONJ (p = 0.000). Conclusions: Clinician should have awareness about narrowing of incisive canal, apical and buccal cortical bone thickening, decreasing in cancellous bone radiodensity, and the lingual cortex destruction in patients with MRONJ. hosphonates (Bps) are inorganic pyrophosphates effective in inhibiting bone resorption and most widely prescribed for the treatment of patients with osteoporosis, Paget’s Disease, hypercalcemia related to malignancy, multiple myeloma and symptomatic fibrous dysplasia.1,2 Osteonecrosis of the jaw is a potentially severe side effect of antiresorptive agents including bisphosphonates with a mean incidence of 7% (0 to 27.5%) in patients treated intravenously.3 The American Association of Oral and Maxillofacial Surgeons (AAOMS) has updated their definition in 2014 as medication-related osteonecrosis of the jaw (MRONJ) to (1) current or previous treatment with antiresorptive or antiangiogenic agents; (2) exposed bone or bone that can be probed through an intraoral or extraoral fistula in the maxillofacial region that has persisted for more than 8 weeks and (3) no history of radiation therapy to the jaws or obvious metastatic disease to the jaws.4 Accurate staging is essential to plan the correct treatment for MRONJ patients. Staging of MRONJ is currently based on the classification proposed by Ruggiero and colleagues5 and has been adopted by AAOMS6 (Table 1). Although clinical examination is favoured for diagnosis of MRONJ primarily, imaging is essential for determining the extent of lesion, diagnosing early stages and excluding fractures.7 Conventional radiography and CT scans have been widely used and may show osseous changes such as periosteal reaction, sclerotic lesions, lucency and sequester formations; however, there is no golden standard.8,9 There are few reports for the quantitative evaluation10,11 of osseous changes by using cone beam CT (CBCT) and no distinct clinical-radiological systematization of MRONJ. Diagnosis of MRONJ in CBCT is usually based on classical subjective image parameters. Therefore, the aim of this study was to investigate the differences in radiological variables between the patients with MRONJ and healthy individuals in CBCT.

Objective: The aim of the current study was to provide wrist circumference (WrC) and body frame size (height/WrC) percentile values in Turkish children and adolescents aged 6-17 years. Methods: In this cross-sectional study, the data of “Determination of Anthropometric Measures of Turkish Children and Adolescents” (DAMTCA II) study in Kayseri/Turkey were used. A total of 4330 observations were recorded (1931 boys, 2399 girls). The WrC and frame size reference values were produced with generalized additive models for location, scale and shape. Results: The WrC percentiles (3rd-97th) were calculated. The frame size (height/WrC) was estimated as small, medium, and large (

Professional musicians represent an ideal model to study the training-induced brain plasticity. The current study aimed to investigate the brain volume and diffusion characteristics of musicians using structural magnetic resonance and diffusion tensor imaging (DTI). The combined use of volumetric and diffusion methods in studying musician brain has not been done in literature. Our study group consisted of seven male musicians playing an instrument and seven age- and gender-matched non-musicians. We evaluated the volumes of gray matter (GM), white matter (WM), and cerebrospinal fluid (CSF) and calculated total intracranial volume (TIV) and measured the fractional anisotropy (FA) of pre-selected WM bundles: corpus callosum (CC), corticospinal tract (CST), superior longitudinal fasciculus (SLF), forceps major (ForMaj), forceps minor (ForMin), and arcuate fasciculus (AF). The mean WM/TIV volume in musicians was higher compared to non-musicians. The mean FA was lower in CC, SLF, ForMaj, ForMin, and right AF but higher in right CST in the musicians. The mean value of the total number of fibers was larger in the CST, SLF, left AF, and ForMaj in the musicians. The observed differences were not statistically significant between the groups (p>0.05). However, increased GM volume was found in the musicians compared to the non-musicians in the right and left cerebellum and supramarginal and angular gyrus, left superior and inferior parietal lobule and as well as left middle temporal gyrus. Our findings suggest differing brain structure in musicians and the confirmation of the results on a larger population.

Objective: As in adults, hypertension is also an important risk factor for cardiovascular disease in children. We aimed to evaluate the effect of sleep duration on blood pressure in normal weight Turkish children aged between 11-17 years. Methods: This cross-sectional study was conducted in the primary and secondary schools of the two central and ten outlying districts of Kayseri, Turkey. Subjects were 2860 children and adolescents (1385 boys, 1475 girls). Systolic and diastolic blood pressures were measured according to the recommendations of the Fourth Report of the National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents. Sleep duration was classified as follows: ≤8 hours, 8.1-8.9 hours, 9.0-9.9 hours or ≥10 hours. Results: For short sleeper boys and girls (participants with a sleep duration ≤8 h) the prevalence of prehypertension and hypertension was 35.0% and 30.8%, respectively. In univariate binary logistic regression analyses (age-adjusted), each unit increment in sleep duration (hours) in boys and girls, decreased the prehypertension and hypertension risk by 0.89 [odds ratio (OR)] [confidance interval (CI); 0.82-0.98] and 0.88 (OR) (CI; 0.81-0.97), respectively (p

Background Profilin-1 is a ubiquitous, actin-binding protein that plays an important role in the regulation of actin polymerization and cytoskeleton remodeling thus contribute vascular dysfunction.We conducted this study to investigate the association of serum profilin-1 levels with fatal and non-fatal CVE in a cohort of patients with stage 1-5 CKD. Matherials and methods Serum concentrations of profilin-1 levels were determined by enzyme-linked immunosorbent assay. Endothelium-dependent vasodilatation (flow-mediated dilatation (FMD) and endothelium-independent vasodilatation (nitroglycerine mediated dilatation (NMD) of the brachial artery were assessed non-invasively, using high-resolution ultrasound. Results Both fatal and non-fatal CVE was significantly higher in patients with high profilin-1 levels. Kaplan–Meier survival curves showed that patients with profilin-1 below the median value (114 pg/ml) had higher cumulative survival compared with patients who had profilin-1 levels above the median value (log-rank test, P

Change of the thyroid gland volume is often the symptom of most common pathological conditions some thyroid diseases. The exact calculation for the thyroid volume is very important for the assessment and management of thyroid disorders. The volume of thyroid gland, using computed tomography (CT), ultrasound (USG) and magnetic resonance imaging (MRI) has been accessed in few studies published; however a gold standard method has not yet been determined. The purpose of this study was to estimate the volume of normal thyroid gland to define an optimal correction factor therefore was to compare different techniques using the CT. We used computed tomography images obtained from 8 cadavers (2 females, 6 males) to calculate the thyroid volumes. In the present study, the actual thyroid volumes were measured using the water-displacement method as a gold standard, point-counting as a stereology, and ellipsoid methods. Mean squared errors and correction factors were calculated and modeled for each model to find an optimal correction factor and from 0.450 to 0.600 in steps of 0.001 separately for thyroid volume estimation. The average volume of the thyroid glands were 14.58 +/- 9.84, 15.28 +/- 9.38, and 14.97 +/- 8.35 cm(3) by fluid displacement, stereology and ellipsoid formula, respectively. No significant difference was found among the methods (P>0.05). The results of this study suggested that the volume of thyroid gland can be measured on CT scans stereologically for diagnosis, as will as provide reliable measure of thyroid volume, management and follow-up of thyroid diseases and for preoperative planning.

Background Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary disorder with unclear disease mechanism. Currently, overt hypertension and increased renal volume are the best predictors of renal function. In this study, we assessed the usefulness of selected circulating microRNAs (miRs) to predict disease progress in a cohort with ADPKD. Methods Eighty ADPKD patients (44.6 ± 12.7 years, 40% female, 65% hypertensive) and 50 healthy subjects (HS; 45.4 ± 12.7, 44% female) were enrolled in the study. Serum levels of 384 miRs were determined by Biomark Real Time PCR. Groups were compared using the limma method with multiple-testing correction as proposed by Smyth (corrected p 10% loss of GFR over the following 12 months (cut-off >2.2 AU, sensitivity 83%, specificity 78%, area 0.872 [95% CI: 0.790–0.953, p

Additional infusions of mesenchymal stem cells improve response rate in multidrug-resistant GvHD patients

RNA sequencing (RNA-Seq) is a powerful technique for the gene-expression profiling of organisms that uses the capabilities of next-generation sequencing technologies. Developing gene-expression-based classification algorithms is an emerging powerful method for diagnosis, disease classification and monitoring at molecular level, as well as providing potential markers of diseases. Most of the statistical methods proposed for the classification of gene-expression data are either based on a continuous scale (eg. microarray data) or require a normal distribution assumption. Hence, these methods cannot be directly applied to RNASeq data since they violate both data structure and distributional assumptions. However, it is possible to apply these algorithms with appropriate modifications to RNA-Seq data. One way is to develop count-based classifiers, such as Poisson linear discriminant analysis and negative binomial linear discriminant analysis. Another way is to bring the data closer to microarrays and apply microarray-based classifiers. In this study, we compared several classifiers including PLDA with and without power transformation, NBLDA, single SVM, bagging SVM (bagSVM), classification and regression trees (CART), and random forests (RF). We also examined the effect of several parameters such as overdispersion, sample size, number of genes, number of classes, differential-expression rate, and the transformation method on model performances. A comprehensive simulation study is conducted and the results are compared with the results of two miRNA and two mRNA experimental datasets. The results revealed that increasing the sample size, differential-expression rate and decreasing the dispersion parameter and number of groups lead to an increase in classification accuracy. Similar with differential-expression studies, the classification of RNA-Seq data requires careful attention when handling data overdispersion. We conclude that, as a count-based classifier, the power transformed PLDA and, as a microarray-based classifier, vst or rlog transformed RF and SVM classifiers may be a good choice for classification. An R/BIOCONDUCTOR package, MLSeq, is freely available at https://www. bioconductor. org/packages/release/bioc/ html/MLSeq. html.

BAYRAM, KEZIBAN KORKMAZ/0000-0002-1228-1298; Zararsiz, Gokmen/0000-0001-5801-1835 WOS: 000401318800005 Objective: Autism spectrum disorders (ASDs) is a heterogeneous neuropsychiatric disorder with widespread abnormalities of social interaction and communication, showing severely restricted interests and extreme repetitive behavior. The relationship between aggressive behavior, insensitivity to pain, and ASDs could not be explained completely. Therefore, we aimed to contribute to the etiology by examining the gene expressions of OPRL1, TACR1, and HTR1E in patients with ASDs. Methods: This study was held in the Genome and Stem Cell Research Center of Erciyes University. In this present study, the expressions of OPRL1, TACR1, and HTR1E genes were studied in 22 ASD patients and 14 healthy controls. Quantitative Real-time Polymerase Chain Reaction (qRT-PCR) was used for gene expression studies. Results: There was a statistically significant difference in terms of the expression of the three genes, which we examined between the ASD patient and control groups. Positive and strong correlations were obtained between the three gene expressions in the ASD group and this finding was found to be statistically significant. Conclusions: Considering all these findings, large-scale and new researches are needed for revealing the roles of genes and their pathways which are related to aggression and insensitivity to pain in ASDs. Our results will lead to new research studies in this field.

The use of αβ+ T-cell-depleted grafts is a novel approach to prevent graft failure, graft-versus-host disease (GVHD), and non-relapse mortality (NRM) in patients undergoing haploidentical hematopoietic stem cell transplantation.Thirty-four patients with acute leukemia and lacking a match donor were treated with αβ T-cell-depleted allografts from haploidentical family donors. A total of 24 patients had acute myeloid leukemia (AML) and 10 had acute lymphoblastic leukemia. 84.4% of patients were in the high-risk group, and 55.9% were not in remission. The preparative regimen included thiotepa, melphalan, fludarabine, and anti-thymocyte globulin-Fresenius. Grafts were peripheral blood stem cells engineered by TcR-alpha/beta depletion.Neutrophil and platelet engraftment was achieved on days +12 (range, 10.5-15) and +11 (range, 10-12). All but three patients were engrafted with full donor chimerism. Grade III-IV acute GVHD occurred in two (5.9%) patients and chronic GVHD in two (6.1%). Disease-free survival and overall survival were 42 and 54% at 1 year, respectively. AML as disease type (HR: 4.87, 95% CI: 1.50-15.87) and mother as donor (HR: 1.05, 95% CI: 1.00-1.11) were found to be independent risk factors on patient survival. Mortality and NRM in the first 100 days were 5 of 34 (14.7%) and 4 of 34 (11.7%). Relapse was the main cause of death (56.3%). T-cell reconstitution appears to be faster than that reported in published data with CD3/CD19-depleted grafts.αβ T-cell-depleted haploidentical transplantation may be a good alternative for high-risk patients if there are no human leukocyte antigen matched donors.

Traumatic brain injury (TBI), a worldwide public health problem, has recently been recognized as a common cause of pituitary dysfunction. Circulating microRNAs (miRNAs) present in the sera are characteristically altered in many pathological conditions and have been used as diagnostic markers for specific diseases. It is with this goal that we planned to study miRNA expression in patients with TBI-induced hypopituitarism. Thirty-eight patients (27 male, 11 female; mean age, 43 +/- 18 years) who had been admitted to the neurosurgery intensive care unit due to TBI were included in the acute phase of the study. In the chronic phase, miRNA expression profile blood samples were drawn from 25 patients who had suffered TBI 5 years ago. In the acute phase (on Days 1, 7, and 28), a substantial amount of patients (26%, 40%, and 53%; respectively) had hypopituitarism (acute adrenocorticotropic hormone deficiency). In the chronic phase eight of 25 patients (32%) had TBI-induced-hypopituitarism. Forty-seven age-gender-similar healthy controls (25 male, 22 female, mean age: 41 +/- 14 years) were included in the study. In order to identify potential candidate miRNA/miRNAs whose levels had been altered in response to TBI-induced hypopituitarism, 740 miRNA expression analyses were performed in the sera of TBI patients by high throughput real-time polymerase chain reaction. Statistical analyses showed that miRNA-126-3p (miR-126-3p) and miRNA-3610 (miR-3610) were detected in the sera of patients who developed hypopituitarism on the 1st, 7th, and 28th days, and in the 5th year following TBI. In addition, miRNA-3907 showed statistically significant and constant dynamic changes on the 1st, 7th, and 28th days, and in the 5th year in the patients with TBI. Our results indicated that altered expression of miR-126-3p and miR-3610 may play an important role in the development of TBI-induced hypopituitarism.

Introduction Genetic disorders associated with the development of the pituitary gland and cranial bones may cause a genetic tendency toward Sheehan's syndrome (SS). Our aim in this study was to investigate expression disorders in the genes responsible for the development of the pituitary gland and cranial bones in patients with SS. Materials and methods Forty-four patients who were previously diagnosed with SS and 43 healthy women were compared in terms of the mean expression values of genes including the prophet of PIT-1 (PROP1), HESX homeobox 1 (HESX1), POU class 1 homeobox 1 (POU1F1), LIM homeobox 3 (LHX3), LHX4, glioma-associated oncogene homolog 2 (GLI2), orthodenticle homeobox 2 (OTX2), SIX homeobox 3 (SIX3), SIX6, T-box transcription factor 19 (TBX19), transducin-like enhancer protein 1 (TLE1), TLE3, distal-less homeobox 2 (DLX2), DLX5, MSH homeobox 2 (MSX2), and paired box 3 (PAX3). Results The mean expression values of the HESX1, TLE1, TLE3, and MSX2 genes were significantly different in the SS group from the healthy control group, while the mean expression values of the remaining genes were similar. Conclusion The present study concludes that abnormal expressions of HESX1, TLE1, TLE3, and MSX2 genes may cause a genetic predisposition to the development of SS.

Objectives: To determine the role of hemogram parameters such as platelet count (PLT), mean platelet volume (MPV), and the MPV/PLT ratio in predicting the risk of postoperative vomiting (POV) in children after tooth extraction under deep sedation. Methods: A total of 100 American Society of Anesthesiology Classification I and II pediatric patients who underwent tooth extraction procedures under a standard anesthetic method were included in the study between 2012 and 2014. The study took place at the Faculty of Dentistry, Department of Oral and Maxillofacial Surgery, Erciyes University, Erciyes, Turkey Fifty patients without POV (group 1) and 50 patients with POV (group 2) were retrospectively selected randomly from the records of 885 consecutive patients. Age, gender, duration of the operation, and preoperative hemogram findings were recorded. Results: There was a statistically significant difference between the 2 groups in terms of MPV ( p less than 0.001), PLT ( p =0.006), and MPV/PLT ( p less than 0.001) ratio. Mean platelet volume and MPV/PLT ratio were higher in group 2, whereas PLT was higher in group 1. Conclusion: The PLT count, MPV, and MPV/PLT ratio may be used to predict POV in children. Saudi Med J 2016; Vol. 37 (10): 1082-1088 doi: 10.15537/smj.2016.10.14903 How to cite this article: Canpolat DG, Dogruel F, Gonen ZB, Yilmaz C, Zararsiz G, Alkan A. The role of platelet count, mean platelet volume, and the mean platelet volume/platelet count ratio in predicting postoperative vomiting in children after deep sedation. Saudi Med J . 2016 Oct;37(10):1082-8. doi: 10.15537/smj.2016.10.14903.

Hyperhydricity is a morphophysiological disorder of plants in tissue culture characterized morphologically by the presence of translucent, thick, curled, and fragile leaves as a result of excessive water intake. Since clonal propagation is a major in vitro technique for multiplying plants vegetatively, the emergence of hyperhydricity-related symptoms causes significant economic losses to agriculture and horticulture. Although numerous efforts have been hitherto devoted to the morphological and anatomical responses of plants to hyperhydricity, the underlying molecular mechanism remains largely unknown. Here, a genome-wide transcriptome analysis was performed to identify differentially expressed genes in hyperhydric and nonhyperhydric leaves of peach [Prunus persica (L.) Batsch]. The RNA sequencing (RNA-Seq) analysis showed that the expression of >300 transcripts was altered between control and hyperhydric leaf cells. The top 30 differentially expressed transcripts (DETs) were related to the posttranscriptional regulators of organelle gene expression and photosynthesis, cellular elimination, plant cuticle development, and abiotic stress response processes. The expression of 10 DETs was also conformed by quantitative real-time polymerase chain reaction (RT-qPCR) in hyperhydric and nonhyperhydric leaves. As a complex biological process, hyperhydricity alters the expression of various transcripts including transcription factor (Myb2), RNA binding protein (pentatricopeptide, PPR), transporter protein (ABC), and Laccase3. Thus, this genome-wide transcriptome profiling study may help elucidate the molecular mechanism of hyperhydricity.

This study was carried out to measure the volume of the palatine tonsil in otorhinolaryngology outpatients with complaints of adenotonsillar hypertrophy and chronic tonsillitis who had undergone tonsillectomy. To date, no study has investigated palatine tonsil volume using different methods and compared with subjective tonsil size in the literature. For this purpose, we used three different methods to measure palatine tonsil volume. The correlation of each parameter with tonsil size was assessed. After tonsillectomy, palatine tonsil volume was measured by Archimedes, Cavalieri and Ellipsoid methods. Mean right-left palatine tonsil volumes were calculated as 2.63 +/- 1.34 cm(3) and 2.72 +/- 1.51 cm(3) by the Archimedes method, 3.51 +/- 1.48 cm(3) and 3.37 +/- 1.36 cm(3) by the Cavalieri method, and 2.22 +/- 1.22 cm(3) and 2.29 +/- 1.42 cm(3) by the Ellipsoid method, respectively. Excellent agreement was found among the three methods of measuring volumetric techniques according to Bland-Altman plots. In addition, tonsil grade was correlated significantly with tonsil volume.

Background Iron overload is one of the most significant problems as a leading cause of death in patients with leukemia and those who underwent allogeneic hematopoietic stem cell transplantation (alloHSCT). Methods In the current study, we retrospectively evaluated the bone marrow iron scores (BMIS) in patients who underwent alloHSCT (n = 125). The first available bone marrow biopsy specimens prior to the alloHSCT procedure or date of hospitalization (control group) were assessed in a blinded fashion using a standardized scoring system. Results A total of 125 patients were enrolled in the study. Seventy-six (60.8%) of the patients were male, and 49 (39.2%) were female. The median level of pre-transplant serum ferritin was 1023.00 ng/mL (range, 393.80-1627.50 ng/mL). The majority of the patients were diagnosed with acute leukemia (83; 66.4%) and lymphomas (20; 16.0%). The median time for neutrophil engraftment was 14.00 days (range, 13.00-16.00 days) and 11.00 days (range, 10.00-14.00 days) for platelet engraftment. The peri-transplant mortality was similar to international mortality rates (3; 2.4%). The overall survival and disease-free survival were strongly correlated with the degree of BMIS, and both were significantly poorer in patients with high bone marrow iron content ( P P = .012, respectively). Conclusion The validation of BMIS for risk stratification in patients who undergo alloHSCT may predict posttransplant outcomes.

A quick evaluation is required for patients with acute abdominal pain. It is crucial to differentiate between surgical and nonsurgical pathology. Practical and accurate tests are essential in this differentiation. Lately, D-dimer level has been found to be an important adjuvant in this diagnosis and obviously outperforms leukocyte count, which is widely used for diagnosis of certain cases. Here, we handle this problem from a statistical perspective and combine the information from leukocyte count with D-dimer level to increase the diagnostic accuracy of nontraumatic acute abdomen. For this purpose, various statistical learning algorithms are considered and model performances are assessed using several measures. Our results revealed that the naive Bayes algorithm, robust quadratic discriminant analysis, bagged and boosted support vector machines, and single and bagged k-nearest neighbors provide an increase in diagnostic accuracies of up to 8.93% and 17.86% compared with D-dimer level and leukocyte count, respectively. Highest accuracy was obtained as 78.57% with the naive Bayes algorithm. Analysis has been done via the R programming language based on the codes developed by the authors. A user-friendly web-tool is also developed to assist physicians in their decisions to differentially diagnose patients with acute abdomen. It is available at http://www.biosoft.hacettepe.edu.tr/DDNAA/.

PubMed ID: 26742871, Purpose: To investigate the retina and macular thickness in patients with schizophrenia and to compare the results with those of healthy controls. Methods: Sixty-eight eyes of 34 patients with schizophrenia and 60 eyes of 30 randomly selected healthy volunteers were involved in the study. Measurements of peripapillary retinal nerve fiber layer (RNFL) thickness, macula thickness, and macula volume were taken in both eyes using spectral-domain optical coherence tomography (OCT). Statistical analysis was performed using Statistical Package for the Social Sciences version 20.0. Results: Average and nasal RNFL thicknesses were found to be significantly lower in the patient group than the control group (p = 0.030, p = 0.04, respectively). Macular thicknesses of nasal outer and inferior outer quadrants in the patient group were significantly lower than in the control group (p = 0.009, p = 0.027, respectively). Average macular thickness and macular thicknesses in the superior outer, superior inner, temporal outer, temporal inner, nasal inner, and inferior inner areas were lower in the patient group compared to the control group, but not significantly (p = 1.000, p = 1.000, p = 0.837, p = 1.000, p = 0.279, p = 1.000, p = 0.180, respectively). Conclusions: We detected RNFL and macular thinning in patients with schizophrenia. Based on these findings and results of other studies evaluating retina using OCT and brain magnetic resonance imaging studies in patients with schizophrenia, a neurodegenerative process may be an underlying pathologic mechanism in this disease. © 2015 Wichtig Publishing.