Evaluation of Allergic Disease Prevalence and Related Risk Factors in Children with Autoimmune Thyroiditis.

BACKGROUND: Allergic and autoimmune diseases are caused by an impaired immunological response resulting from different types of T-helper (Th) cells. Since the Th cell production is in a certain balance, an inverse relationship between the 2 disease groups may exist. In this study, we aimed to investigate the frequency of allergic diseases in children with autoimmune thyroiditis (AT). METHODS: Symptoms of allergic diseases were investigated by the (International Study of Asthma and Allergies in Childhood) ISAAC questionnaire. The questionnaire was administered to a group of 300 children with AT and a control group of 300 children with no known autoimmune disease. The risk factors for allergic diseases and sociodemographic characteristics were investigated. A multivariable logistic regression analysis was performed with the risk factors of allergic diseases. RESULTS: Asthma, wheezing during the last year, wheezing with exercise, disease-free night cough, and night cough were significantly less common in patients with AT. Allergic rhinitis symptoms, except physician-diagnosed allergic rhinitis, are found significantly less frequently in patients with AT. It was found that the presence of AT and an increase in the number of children in the family reduce the risk of allergic diseases; cat-dog contact before 1 year of age and the presence of asthma, eczema, or allergic rhinitis in the mother increase the risk of allergic diseases. CONCLUSIONS: Asthma and allergic rhinitis symptoms were significantly less common in children with AT. AT reduces the risk of allergic diseases.

Emotion dysregulation and pediatric obesity: investigating the role of Internet addiction and eating behaviors on this relationship in an adolescent sample.

OBJECTIVE: The first aim was to investigate whether there was a mediator role of Internet addiction or uncontrolled/emotional eating on the association between emotion dysregulation and body mass index-standard deviation score (BMI-SDS). The second aim was to detect which of these variables (emotion dysregulation, Internet addiction, and uncontrolled/emotional eating) significantly affect the presence of obesity (OB). METHODS: A total of 123 adolescents (OB (n = 65, 57% of girls, mean age = 15 ± 1.9, BMI percentile between 95 and 99) and healthy control (HC) (n = 58; 53% of girls, mean age = 15.5 ± 1.8, BMI percentile between 1 and 84) aged between 11 and 18 were recruited. Difficulties in Emotion Regulation Scale (DERS) and Internet Addiction Test (IAT) were completed by adolescents. Uncontrolled and emotional eating behaviors were measured by Three Factors Eating Questionnaire (TFE-Q)'s sub-domains. RESULTS: There was no significant direct effect of DERS on BMI-SDS, whereas the indirect effect of DERS on BMI-SDS which was mediated by both IAT and TFE-Q was statistically significant. In logistic regression analysis, an increase by 1 point in DERS total score escalated the odds of being OB by 2%. Moreover, a 22-fold increased risk of OB has been detected in moderate/severe Internet addiction compared to no addiction. CONCLUSION: This cross-sectional study showed that the association between emotion dysregulation and BMI-SDS was totally mediated by internet addiction and uncontrolled/emotional eating. In addition, emotion dysregulation and Internet addiction were significant determinants of OB. A prospective study is needed to detect the causal relationship between these variables. LEVEL OF EVIDENCE: Level III, case-control analytic study.

Dynamic Thiol/Disulphide Homeostasis in Children and Adolescents with Non-Autoimmune Subclinical Hypothyroidism.

OBJECTIVE: To evaluate the thiol/disulphide homeostasis in children with non-autoimmune subclinical hypothyroidism (SHT). SUBJECTS AND METHODS: Thiol/disulphide homeosta sis, involving native thiol (SH), disulphide (SS), and total thiol (SS + SH), was evaluated in 60 children and adolescents who were negative for thyroid auto-antibodies (anti-thyroid peroxidase, anti-thyroglobulin) and had a thyroid-stimulating hormone (TSH) value of > 5 mIU/L, and in 40 sex- and age-matched healthy control subjects who were negative for thyroid autoantibodies and had normal TSH levels. Lipid profiles and urine iodine levels were also determined. RESULTS: SH (466 ± 32.8 vs. 462 ± 32.1 µmol/L p = 0.59), SH + SS (508 ± 34.0 vs. 506 ± 32.7 µmol/L, p = 0.81), SS (21 ± 5.5 vs. 22 ± 5.8 µmol/L, p = 0.41), SS/SH (4.5 ± 1.2 vs. 4.8 ± 1.3%, p = 0.36), SS/SH + SS (4.1 ± 1.0 vs. 4.3 ± 1.1%, p = 0.36) and SH/SH + SS (91 ± 2.1 vs. 91 ± 2.1%, p = 0.31) levels were similar in children with SHT and control subjects (p > 0.05). There was no difference between total cholesterol, triglyceride, and low-density lipoprotein levels in SHT patients and controls. No difference was detected between the patients with or without iodine deficiency in the SHT group in terms of thiol/disulphide homeostasis parameters. CONCLUSION: The status of dynamic thiol/disulphide homeostasis did not change in children and adolescents with non-autoimmune SHT. Future studies are needed for the evaluation of oxidative stress in patients with long-standing non-autoimmune SHT.

PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.

Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin-releasing hormone (GnRH) deficiency. Genetic factors involved in semaphorin/plexin signaling have been identified in patients with IHH. PlexinB1, a member of the plexin family receptors, serves as the receptor for semaphorin 4D (Sema4D). In mice, perturbations in Sema4D/PlexinB1 signaling leads to improper GnRH development, highlighting the importance of investigating PlexinB1 mutations in IHH families. In total, 336 IHH patients (normosmic IHH, n = 293 and Kallmann syndrome, n = 43) from 290 independent families were included in the present study. Six PLXNB1 rare sequence variants (p.N361S, p.V608A, p.R636C, p.V672A, p.R1031H, and p.C1318R) are described in eight normosmic IHH patients from seven independent families. These variants were examined using bioinformatic modeling and compared to mutants reported in PLXNA1. Based on these analyses, the variant p.R1031H was assayed for alterations in cell morphology, PlexinB1 expression, and migration using a GnRH cell line and Boyden chambers. Experiments showed reduced membrane expression and impaired migration in cells expressing this variant compared to the wild-type. Our results provide clinical, genetic, molecular/cellular, and modeling evidence to implicate variants in PLXNB1 in the etiology of IHH.

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.

Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART. METHOD: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded. RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro). CONCLUSION: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11ß-Hydroxylase Deficiency.

BACKGROUND: Given the rarity of 11ß-hydroxylase deficiency (11ßOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11ßOHD) and nonclassic 11ßOHD (NC-11ßOHD). OBJECTIVE: To characterize a multicenter pediatric cohort with 11ßOHD. METHOD: The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. RESULTS: 102 patients (C-11ßOHD, n = 92; NC-11ßOHD, n = 10) from 76 families (46,XX; n = 53) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [-1.85 SD score (SDS)] and male 160.4 cm (-2.56 SDS).None of the NC-11ßOHD girls had ambiguous genitalia (C-11ßOHD 100%), and none of the NC-11ßOHD patients were hypertensive (C-11ßOHD 50%). Compared to NC-11ßOHD, C-11ßOHD patients were diagnosed earlier (1.33 vs 6.9 years; P < 0.0001), had higher bone age-to-chronological age (P = 0.04) and lower adult height (-2.46 vs -1.32 SDS; P = 0.05). The concentrations of 11-oxygenated androgens and 21-deoxycortisol were low in all patients. The baseline ACTH and stimulated cortisol were normal in NC-11ßOHD. Baseline cortisol; cortisone; 11-deoxycortisol; 11-deoxycorticosterone and corticosterone concentrations; and 11-deoxycortisol/cortisol, 11-deoxycorticosterone/cortisol, and androstenedione/cortisol ratios were higher in C-11ßOHD than NC-11ßOHD patients (P < 0.05). The 11-deoxycortisol/cortisol ratio >2.2, <1.5, and <0.1 had 100% specificity to segregate C-11ßOHD, NC-11ßOHD, and control groups. CONCLUSION: NC-11ßOHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11ßOHD.

Evaluation of the relationship between the one-hour plasma glucose concentration and beta-cell functions and cardiometabolic parameters during oral glucose tolerance test in obese children and adolescents.

Background In this study, we aimed to evaluate the relationship between the 1-h plasma glucose (PG) level in the oral glucose tolerance test (OGTT) and conventional glycemic parameters, indices evaluating beta-cell functions, and cardiometabolic risk factors. Methods The records of 532 obese patients who were followed up in the Pediatric Endocrinology Polyclinic and who underwent standard OGTT were evaluated retrospectively. All patients were divided into two groups according to OGTT data as the 1-h plasma glucose concentration <155 mg/dL (n=329) and ≥155 mg/dL (n=203). Patients with normal glucose tolerance (NGT) were divided into two groups according to the 1-h PG level, as 218 patients with NGT 1 h-low (<155 mg/dL) and 53 patients with high NGT 1 h-high (≥155 mg/dL). Results There was a statistically significant difference between the lipid profiles of individuals with NGT 1 h-low (<155 mg/dL) and individuals with NGT 1 h-high (≥155 mg/dL) (p<0.001). Total cholesterol, LDL cholesterol, and triglyceride levels were higher, while HDL cholesterol levels were lower in individuals with NGT 1 h-high (≥155 mg/dL). The indices evaluating beta-cell functions were significantly higher in individuals with NGT 1 h-low (<155 mg/dL). Conclusion As a result, a plasma glucose concentration above or equal to 155 mg/dL at 1 h during an OGTT is associated with a worse clinical phenotype characterized by changes in insulin sensitivity and ß-cell function. Therefore, this threshold value can predict the progression of prediabetes in obese young people with NGT.

The Effects of Risk Behaviors and Orthorexic Behavior on Glycemic Control in Adolescents with Type 1 Diabetes

Objective: Adolescents with chronic disease are as likely to exhibit risk-taking behavior as their peers. The aim was to investigate the risk behaviors of adolescents with type 1 diabetes (T1D) and the effect of orthorexic eating behaviors (OEB) on glycemic control (GC). Methods: This cross-sectional study was conducted with 107 adolescents with T1D, aged between 13-18 years and attending high school. The Risk Behavior Scale (RBS) and Orthorexic Behavior Scale (ORTO-11) were administered. A high RBS score indicates risky behavior; a low ORTO-11 score suggests a tendency to OEB. Participants hemoglobin A1c (HbA1c) status was used to assess GC: optimal GC (HbA1c ≤7%); or poor GC (HbA1c >7%). Results: Among females, those with poor GC had significantly lower (p=0.031) ORTO-11 scores than those with optimal GC, which was not the case in males. A significant correlation (r=0.358, p<0.001) was found between HbA1c and total RBS, eating habits subscale, and suicidal tendency subscale scores. Participants with poor GC had significantly higher eating habits subscale, alcohol use, and tobacco use subscale scores (p<0.05). Among females, total RBS and suicidal tendency subscale score was found to be significantly higher in those with poor GC; among males, alcohol subscale score was found to be significantly higher in those with poor GC. Conclusion: This study is the first to show the effect of the tendency for OEB on GC among female adolescents with T1D. The study showed that, along with inappropriate eating behaviors, adolescents with T1D should also be assessed for other risk behaviors to help achieve optimal GC.

A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report

The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region of the Y chromosome (SRY) gene. It is known that excessive expression of SRY-related high mobility group box 9 (SOX9) is the cause of SRY-negative 46,XX ovotesticular DSD in the absence of SRY. Here, we analyzed our SRY-negative case with 46,XX ovotesticular DSD. In an array comparative genomic hybridization study using a peripheral blood sample from the patient, a duplication of 1114 kb (Hg19 coordinates: chr17:69006280-70120619) in the region of 17q24.3 containing SOX9 was detected. This is the first case reported from Turkey, exhibiting SOX9 duplication in SRY-negative 46,XX ovotesticular DSD.

Triglycerides/high-density lipoprotein cholesterol is a predictor similar to the triglyceride-glucose index for the diagnosis of metabolic syndrome using International Diabetes Federation criteria of insulin resistance in obese adolescents: a cross-sectional study.

Objectives Metabolic syndrome (MS) is a fatal endocrinopathy that begins with insulin resistance (IR) and causes abdominal obesity, glucose intolerance, or systemic disorders. This study was aimed to determine the cut-off values for the triglyceride (TG)/high-density lipoprotein cholesterol (TG/HDL-C) ratio, the TG glucose (TyG) index and homeostasis model assessment (HOMA-IR) for the diagnosis of MS in obese adolescents, and to compare which of the three indexes would offer a more accurate approach to diagnosis. Methods The study population comprised 1,171 obese adolescents (639 females and 532 males aged 10-16 years, Body Mass Index (BMI)>=95th percentile). Indirect measures of IR screening for MS were the TG/HDL ratio, TyG index, and HOMA-IR. The cut-off values of the TG/HDL ratio, TyG index, and HOMA-IR were obtained from receiver operation characteristic (ROC) curves. Results HOMA-IR had a significant positive correlation with the TyG index (r=0.352, p<0.001) and TG/HDL-C (r=0.291, p<.001). The TyG index and TG/HDL-C showed a strong positive correlation (r=0.901, p<0.001). The TG/HDL-C ratio showed a larger ROC Area under Curve (AUC=0.849) than HOMA-IR index (AUC=0.689), but as a predictor similar to TyG index (AUC=0.833) when screening for MS. The cut-off values for MS were as follows: TG/HDL-C ratio>2.16 (sensitivity: 88.8%; specificity: 49.7%), TyG index>8.50 (sensitivity: 85.6%; specificity: 57.0%) and HOMA-IR>2.52 (sensitivity: 83.2%; specificity: 40.4%). Conclusions Both the TyG index and TG/HDL-C ratio are better markers than HOMA-IR to determine the risk of metabolic syndrome according to IDF criteria. Besides, the TyG index and TG/HDL-C ratio have similar differentiating powers to determine this risk in obese Turkish adolescents.

The Significance of Thiol/Disulfide Homeostasis and Ischemia-modified Albumin Levels in Assessing Oxidative Stress in Obese Children and Adolescents

Objective: There is an association between obesity and several inflammatory and oxidative markers in children. In this study, we analyzed thiol/disulfide homeostasis and serum ischemia-modified albumin (IMA) levels for the first time in order to clarify and determine the oxidant/antioxidant balance in metabolically healthy and unhealthy children. Methods: This study included obese children and healthy volunteers between 4-18 years of age. The obese patients were divided into two groups: metabolically healthy obese (MHO) and metabolically unhealthy obese (MUO). Biochemical parameters including thiol/disulfide homeostasis, and IMA concentrations were analyzed. Results: There were 301 recruits of whom 168 (55.8%) were females. The obese children numbered 196 (MHO n=58 and MUO n=138) and healthy controls numbered 105. No statistically significant difference could be found in ages and genders of the patients among all groups (p>0.05, for all). Native thiol (SH), total thiol (SH+SS), and native thiol/total thiol (SH/SH+SS) ratio were statistically significantly lower in the MUO group than the control group (p<0.001, p=0.005, and p=0.005; respectively). Disulfide (SS), disulfide/native thiol (SS/SH), disulfide/total thiol (SS/SH+SS) and IMA levels were statistically significantly higher in the MUO group than the control group (p=0.002, p<0.001, p<0.001, and p=0.001, respectively). Conclusion: Chronic inflammation due to oxidative stress induced by impaired metabolic parameters in MUO children caused impairment in thiol redox homeostasis. Our data suggested that the degree of oxidant imbalance in obese children worsened as obesity and metabolic abnormalities increased. It is hypothesized that thiol/disulfide homeostasis and high serum IMA levels may be reliable indicators of oxidant-antioxidant status in MUO children.

Effects of 5-Hydroxymethylfurfural on Pubertal Development of Female Wistar Rats

Objective: 5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats. Methods: In the study, 24 immature female Wistar rat were divided into three groups: control (CT) fed with no HMF; low dose fed with 750 mg/kg/day of HMF and high dose (HD) groups fed with 1500 mg/kg/day of HMF. All groups received these diets for three weeks from postnatal day (PND) 21. The vaginal opening (VO) was monitored daily and euthanasia occurred on PND 44. Gonadotropin, estradiol (E2), progesterone and anti-Müllerian hormone (AMH) concentrations were measured. Reproductive organ weights and ovarian follicle counts were compared. Results: The HD HMF group had earlier VO. Higher mean luteinising hormone (2.9±1.2 vs 1.3±0.3 mIU/mL) and mean E2 (34.7±8.8 vs 21.2±3.9 pg/mL) and lower mean AMH (2.7±0.5 vs 4.7±0.7 ng/mL) concentrations were found in the HD compared to the CT group. The HD group also had increased number of secondary atrophic follicles. Conclusion: These results indicate that peripubertal exposure to HMF at HD result in precocious puberty and decreased AMH levels in female Wistar rats.

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.

Elmaogullari S, Yildiz AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598. Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally found to have sclerotic lesions on X-ray. Both of them were asymptomatic and the bone scan of the boy ruled out osteoblastic metastases. We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosis of osteopoikilosis.

Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes.

Background Diabetic nephropathy (DN) is a significant cause of morbidity and mortality in young adults with type 1 diabetes (T1D). Microalbuminuria (MA) is generally considered as the earliest manifestation of DN. However, it has been shown that MA may be temporary and not reflect permanent renal failure. For this reason, sensitive markers are needed for the detection of kidney damage in the early period. Urinary tubular injury markers increase in the early period of diabetes. These tubular markers are rather indicators of acute renal damage. The objective of this study was to measure the urinary netrin-1 level, a marker of tubular injury in children with normoalbuminuric (NA) T1D, and to determine its relationship with short-term fluctuations in blood glucose using fructosamine levels. Methods Netrin-1 levels in spot urine samples from 82 children with T1D (median age 13.6 years) without MA or hypertension and from 59 healthy controls (median age 11.3 years) with a similar distribution of age and body mass index (BMI) were compared. The relationship of the netrin-1 levels with diabetes parameters such as fructosamine, hemoglobin A1c (HbA1c) or duration of diabetes was investigated. Results Urinary netrin-1 level was found to be higher in patients with T1D than in healthy controls (590 [interquartile range (IQR) = 811] pg/mg-creatinine [pg/mg-cr] and 396 [IQR = 742] pg/mg-cr, respectively) (p = 0.03). Urinary netrin-1 was found to correlate with HbA1c (p = 0.007, r = 0.320) and fructosamine (p = 0.04, r = 0.310) but not with average HbA1c in the last year (p = 0.14, r = -0.19), duration of diabetes (p = 0.83, r = 0.02) or other diabetes indices. Conclusions These results support the idea that tubular damage occurs early in the course of diabetes. However, the fact that netrin-1 is related to fructosamine and HbA1c but not to the duration of diabetes or average HbA1c in the last year may suggest that the tubular damage markers are affected by short-term fluctuations in blood glucose.

Subclinical Myocardial Dysfunction Demonstrated by Speckle Tracking Echocardiography in Children with Euthyroid Hashimoto's Thyroiditis

Objective: Thyroid hormones have an important role in the regulation of the cardiovascular system. The aim of this study was to investigate the presence of subclinical myocardial dysfunction in children with euthyroid Hashimoto's thyroiditis (eHT) without evident heart disease using tissue doppler imaging (TDI) and speckle tracking echocardiography (STE) methods. Methods: TDI and STE were peformed in 50 children with eHT and in 35 healthy children. To assess myocardial velocities and time intervals, including peak systolic velocity (Sm), peak early diastolic velocity (Em), peak late diastolic velocity (Am), isovolumetric contraction time (IVCT), isovolumetric relaxation time (IVRT) and ejection time (ET), TDI was performed at the base of the interventricular septum (IVS) and in the left and right ventricles (LV and RV, respectively). Analysis of myocardial deformation by STE including strain (S) and strain rate (SR) was performed globally in two planes, longitudinal (L) and mid-circumferential (C) in LV [LV global longitudinal strain (LVGLS), LV global longitudinal strain rate (LVGLSR), LV global circumferential strain (LVGCS), LV global circumferential strain rate (LVGCSR)] and RV [(RV global longitudinal strain (RVGLS), RV global longitudinal strain rate (RVGLSR)]. Results: Among TDI parameters, ET at LV and IVS were significantly lower, IVRT and myocardial performance index at LV and IVS were significantly higher in the eHT group compared to controls (p=0.001). There were no significant differences in Sm, Em, Am and IVCT values between patients and controls. LVGLS, LVGLSR, LVGCS and LVGCSR values were significantly lower in patients than controls (p=0.01). There was a negative correlation between thyroid antibody levels and LV global longitudinal and circumferential strain and strain rate values (TPO-Ab and Tg-Ab between LVGLS, LVGLSR, LVGCS and LVGCSR; r=-411, p<0.001; r=-541, p<0.001; r=-430, p<.0.001; r=-502, r<0.01 and r=-397, p<0.001; r=-473, p<0.001; r=-519, p<0.001; r=-421, p<0.00, respectively). Conclusion: The results show that myocardial function in children with eHT is impaired in the absence of any clinical symptoms and that conventional echocardiography is inadequate to determine these changes.

A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.

Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused by mutation in the ESCO2 gene. With these clinical and radiological findings, the case was diagnosed as Roberts syndrome. Full gene sequencing of the ESCO2 gene for the patient was done. In this patient, a novel frameshift mutation was identified in the ESCO2 gene.

Prevalence of ZnT8 Antibody in Turkish Children and Adolescents with New Onset Type 1 Diabetes

OBJECTIVE: Zinc transporter 8 protein (ZnT8A) is a transmembrane protein which functions to transfer zinc to insulin vesicles. Antibodies formed against ZnT8A (ZnT8A) are regarded as an independent autoimmunity demonstrator in type 1 diabetes (T1D). The aim of this study was to investigate the prevalence of ZnT8A in Turkish children with new onset T1D. METHOD: Eighty four patients between 1-18 years of age diagnosed with T1D between February 2015-March 2016 and the control group consisting of 50 healthy children without any autoimmune diseases were included in the study. Serum samples for ZnT8A testing were taken from the patient group within a week of diagnosis. A ZnT8A enzyme-linked immunosorbent assay was used in the analyses. RESULTS: ZnT8A positivity was detected in 58% of the patients with new onset T1D and 8% of the control group. ZnT8A were demonstrated in 5 of 11 patients with negative results for classical diabetes antibodies [insulinoma antigen-2 antibody (IA-2A), glutamic acid decarboxylase (GAD) or insulin autoantibodies]. No association was found between ZnT8A positivity and age, gender, presence or degree of ketoacidosis at presentation, hemoglobin A1c, insulin or C-peptide concentration, or the presence of either thyroid or celiac antibodies. CONCLUSION: ZnT8A prevalence in children with T1D in Turkey was compatible with the literature. The ratio of patients who are clinically considered to have T1D but have negative routine diabetes auto-antibodies were observed to decrease nearly by 50% when ZnT8 antibodies were added to the panel. ZnT8 measurement should be more widespread for clarifying the etiology in T1D.

Anxiety, depression and self-esteem levels in obese children: a case-control study.

BACKGROUND: Obesity is a global health problem affecting all age groups. Childhood obesity, which may cause chronic diseases including diabetes mellitus, cardiovascular disease and cancer, etc., deserves more attention. However, few studies highlight the association between childhood obesity and psychological diseases. In the present study, we aimed to evaluate the psychological condition in obese children. METHODS: One hundred and sixty-seven obese (body mass index (BMI) >95th percentile) and 200 normal weight children (BMI between 5th and 85th percentile) aged 9-16 years were enrolled into this case-control study. In order to assess the self-concept, anxiety and depression levels: the Piers-Harris Children's Self-Concept Scale (PHCSCS), state and trait anxiety inventory for children (STAI-C) and the children depression inventory (CDI) were administered both obese and control groups. RESULTS: There were significant differences among obese and control groups in terms of the total score of PHCSCS [55 (22-69) versus 65 (57-74)], STAI-C [37 (20-55) versus 28 (20-42)], and CDI [12 (4-39)] versus [8 (3-19)]; respectively (p<0.001, p<0.001, p<0.001). We also found statistically significant differences among groups in all of the subscales parameters of PHCSCS (p<0.001). CONCLUSIONS: Our results indicate that obese children may experience psychiatric disorders more than normal-weight peers.

Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder.

The purpose of this study was to determine the levels of leptin, ghrelin, and nesfatin-1 to elucidate the causes of poor appetite and growth retardation in patients receiving methylphenidate therapy for attention deficit hyperactivity disorder. The study was performed on 89 male subjects; 48 patients and 41 healthy controls, aged 7-14 years. Following treatment, patients' leptin levels increased and ghrelin levels decreased while no significant change was found in nesfatin-1 levels. Of the 48 patients, 34 developed lack of appetite. In patients who developed lack of appetite, body weight SDS, body mass index (BMI), and BMI SDS were statistically significantly reduced; moreover, height SDS was reduced, though not to a statistically significant extent. This study attempted to elucidate the mechanisms that mediate the association between methylphenidate and appetite and growth, for which no studies have yet to be published.

Prevalence of Dyslipidemia and Associated Factors in Obese Children and Adolescents.

OBJECTIVE: Childhood-onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases (CVD) during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of CVD. This study aimed to evaluate the prevalence of dyslipidemia and related factors among obese children and adolescents. METHODS: Obese patients aged between 2 and 18 years were included in the study. Serum concentrations of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL-C), high-density lipoprotein (HDL-C), fasting glucose levels, insulin, thyroid-stimulating hormone (TSH), free thyroxine (fT4), alanine aminotransferase (ALT), aspartate aminotransferase (AST), and liver ultrasound findings were evaluated retrospectively. RESULTS: Among 823 obese patients, 353 (42.9%) met the dyslipidemia criteria: 21.7% had hypertriglyceridemia, 19.7% had low levels of HDL-C, 18.6% had hypercholesterolemia, and 13.7% had high levels of LDL-C. Older age and/or high body mass index (BMI) were related to increased prevalence of dyslipidemia. Hepatosteatosis was more common among dyslipidemic patients. The frequency of insulin resistance (IR) and of higher levels of ALT and TSH were also detected in dyslipidemic patients. Patients with both dyslipidemia and grade 2-3 hepatosteatosis had higher levels of ALT, AST and TSH and lower levels of fT4. CONCLUSION: Prevalence of dyslipidemia is high in obese children, and hypertriglyceridemia is in the foreground. Higher levels of IR and more apparent abnormal liver function test results are observed in the context of dyslipidemia and hepatosteatosis coexistence. Metabolic and hormonal alterations related with thyroid functions may also be associated with dyslipidemia and hepatosteatosis in obese patients.