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Abstract

Background

Elevated chemerin level is observed in patients with arterial hypertension. The aim of the study was to determine the relationship between chemerin level, and parameters of blood pressure and arterial stiffness in children and adolescents with obesity but without arterial hypertension.

Methods

In 23 children with obesity (13 girls, mean age 9.3, SD 1.9, mean BMI SDS 3.9, SD 1.7) 24 h ABPM (Spacelabs 90,217, USA), common carotids and abdominal aorta intima media thickness measurements (Voluson 730, GE Medical System 8.5 and 3.5 MHz probes), body composition analysis (Tanita BC 418 S MA, Tokyo, Japan) were performed. Glucose, triglycerides, total, LDL and HDL cholesterol, liver enzymes, uric acid, creatinine, sodium, insulin and chemerin levels were assessed in blood sample taken after a 12-h fasting period.

Results

There was a significant correlation of circulating chemerin level with systolic blood pressure load in ABPM (r=0.5, p<0.05).

Conclusion

Elevated chemerin level may be associated with increased systolic blood pressure in obese children.

Abstract

Objectives

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients. This study aimed to perform clinical and genetic investigation in Japanese CH patients to uncover genotype-phenotype correlations.

Methods

We enrolled 136 Japanese patients with transient or permanent CH between April 2015 and March 2017, and performed next-generation sequencing of 19 genes implicated in CH.

Results

We identified potentially pathogenic bi-allelic variants in DUOX2, TSHR, and TPO in 19, 5, and 1 patient, respectively (autosomal recessive), and a potentially pathogenic mono-allelic variant in NKX2-1 (autosomal dominant) in 1 patient. Molecular genetic diagnosis was highly suggested in 26 patients (19%) from 23 families. We also detected a potentially pathogenic mono-allelic variant in five recessive genes (DUOX2, TSHR, TG, DUOXA2, and TPO) in 31 unrelated patients (23%), although the pathogenicity of these variants remains inconclusive. Patients with bi-allelic DUOX2 variants showed a more severe clinical presentation in infancy than those with bi-allelic TSHR variants. However, this trend reversed beyond infancy. There were no statistical differences in initial thyroid stimulating hormone, free thyroxine, thyroglobulin, and levothyroxine dose as of March 2017 between patients with bi-allelic and mono-allelic DUOX2 variants.

Conclusions

The prevalence of potentially-pathogenic variants in Japanese CH patients was similar to that found by previous reports. Our study demonstrates a genotype-phenotype correlation in Japanese CH patients.

Abstract

Objectives

Reduced levels of α-Klotho is associated with the pathogenesis of various diseases including diabetes. In type I diabetes, decrease in Klotho leads to apoptosis of β-cells of pancreases. The aim of this study was to evaluate the levels of α-Klotho in type I diabetic pediatric patients.

Methods

In this cross-sectional single centered study, 46 patients presenting type I diabetes mellitus (case group) and 78 control group under the age of 12, referred to our clinic were included in our study. Serum levels of soluble Klotho were measured by sandwich ELISA in case and control groups. Statistical analysis was conducted for the data recorded via questionnaire.

Results

Mean age of the patients in the case and control group was 7.65 ± 3.09 and 7 ± 2.37, respectively. Type I diabetes patients had a significant reduction in the levels of serum Klotho, as compared to controls (p<0.001). However, gender and age-based comparison between patient and control group was not significant.

Conclusions

This study reports a significant decrease in the serum levels of α-Klotho in type 1 diabetic patients. Low levels of Klotho can be associated with diabetic nephropathy and other comorbidities in these patients.

Abstract

Background

The tandem mass spectrometry method in the screening of congenital metabolic disorders is not included in routine national newborn screening programmes in Turkey. To evaluate the distribution of acylcarnitines and amino acid levels in normal newborns, establish acylcarnitine and amino acid cut-off levels and further preliminary results of inherited metabolic disorders inferentially in the Turkish population.

Methods

Newborn screening tests performed by tandem MS from 2016 to 2018 were retrospectively reviewed. The study group included 17,066 newborns born in our hospitals located in various regions of Turkey. Blood samples were obtained from infants older than 24 h of age. Among the 17,066 newborns, the metabolic screening data of 9,994 full-term newborns (>37 weeks) were employed to obtain the percentile distribution of the normal population. The study group (17,066) was screened for 26 types of inborn error of metabolism.

Results

Our established cut-offs, were compared with the cut-offs determined by Region for Stork Study and Centers for Disease Control. Among the 26 screened disorders, a total of 12 cases (8 amino acid metabolism disorders, 1 urea cycle defect, 2 organic acidaemias and 1 fatty acid oxidation disorder) were identified.

Conclusions

Because of the high rate of consanguineous marriages in Turkey, the development of a nationwide screening panel is necessary for early detection and management of potentially treatable inherited metabolic disorders.

Abstract

Background

Congenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI.

Case presentation

A term macrosomic male baby, birth weight 4.81 kg, born to non-consanguineous parents, presented on day 1 of life with severe and persistent hypoglycemia. The biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and progressively increased to 15 mg/kg/day to maintain normoglycemia. Sequence analysis identified compound heterozygous mutations in ABCC8 c.4076C>T and c.4119+1G>A inherited from the unaffected father and mother, respectively. The mutations are reported pathogenic. The patient is currently 7 months old with a sustained response to diazoxide.

Conclusions

Biallelic ABCC8 mutations are known to result in severe, diffuse, diazoxide-unresponsive hypoglycemia. We report a rare patient with CHI due to compound heterozygous mutations in ABCC8 responsive to diazoxide.

Abstract

This review summarizes current data on influences of childhood obesity on the 12-lead electrocardiogram (ECG). Studies on obese adults showed a higher risk of cardiovascular complications and also, partly pathological, ECG alterations. Data on ECG alterations in obese children is rare. In current studies, no pathological findings were found. All alterations, which mimic the later pathological phenomena in obese adults, were within normal ranges. Studies reported significantly longer P-wave time and P-wave dispersion (Pd) in obese children [Üner A, Doğan M, Epcacan Z, Epçaçan S. The effect of childhood obesity on cardiac functions. J Pediatr Endocr Met 2014;27:261–71.], no correlation of heart rate, P-wave, or QT dispersions (QTd) [Akyüz A, Alpsoy S, Akkoyun DC, Nalbantoǧlu B, Tülübaș F, et al. Effect of overweight on P-wave and QT dispersions in childhood. Turk Kardiyol Dern Ars 2013;41:515–21.], significantly higher QTd in obese children [Yildirim S, Binnetoglu FK, Battal F, Aylanc H, Nazan Kaymaz N, et al. Relation between QT variables and left ventricular geometry in athletes and obese children. Acta Med Port 2016;29:95–100.], no significant association between obesity and QTc interval (QTc), but longer PR intervals, wider QRS duration and left axis shifting of frontal P-wave, QRS and T-wave axes [Sun G, Li Y, Zho X, Guuo X, Zhang X, et al. Association between obesity and ECG variables in children and adolescents: a cross-sectional study. Exp Ther Med 2013;6:1455–62.], significant prolongation of QTc, T peak-to-end, and QTd in the obese children [Paech C, Liebold A, Gebauer RA, Wagner F, Vogel M, et al. Relative QT interval prolongation and electrical inhomogeneity of cardiac repolarization in childhood obesity. Prog Pediatr Cardiol 2017;47:64–7.], slight shift to the left in the QRS axis (with no changes in the P axis), increased amplitudes of the left-sided leads in obese children, and no correlation of the heart rate with the weight [Paech C, Anhalt M, Gebauer RA, Wagner F, Vogel M, et al. New normal limits for pediatric ECG in childhood obesity? Influence of childhood obesity on the ECG. Prog Pediatr Cardiol 2018;48:119–23.]. Altogether, the study results are inconsistent. Clearly, pathological phenomena in the ECG of obese children were not reported: only preliminary stages like QTc prolongation within the norm were found. The pathological alterations seen in adult obese patients are not (yet) seen in childhood. The slight changes reported in childhood obesity are likely to manifest later and to develop into pathological phenomena in obese adults and, therefore, might increase the risk of cardiovascular events like arrhythmia and sudden cardiac death in adulthood.

Abstract

Background

Given the importance of anxiety and quality of life for the mental health of children with type 1 diabetes (T1D), exercise prescription can be of crucial significance. The present study aims to explore the effect of concurrent resistance-aerobic training on serum cortisol level, anxiety, and quality of life among pediatric T1D.

Methods

Forty children (aged 8–14 years) were randomly assigned to experimental (n = 20) and control groups (n = 20) for 16 weeks. The exercise training program was composed of 16 weeks of interval concurrent resistance-aerobic training with a duration of 60 min performed three times a week. The subjects first performed the resistance training (20 min of Pilates exercises and 20 min of body weight-bearing exercises). Then, the aerobic exercises were performed with an intensity of 50–75% of maximum heart rate. Before and after the training, blood tests including cortisol were carried out on the subjects by RIA kit. Anxiety and quality of life were measured by the Revised Children’s Manifest Anxiety Scale (RCMAS) and Pediatric Quality of Life (PedsQL), respectively. Body composition was measured by InBody. Data were analyzed by paired and independent t-test at p < 0.05 significance level.

Results

Sixteen weeks of concurrent resistance-aerobic exercise significantly reduced the anxiety index (p = 0.001) and increased the quality of life (p = 0.003). Although the cortisol index was increased, it did not reveal any significant differences between the experimental and control groups (p = 0.781). No significant differences were observed in the indices of quality of life, anxiety, and cortisol in the control group.

Conclusions

A 16-week program of concurrent resistance-aerobic training can improve the quality of life and anxiety among children suffering from T1D, but it may not influence the cortisol level (p > 0.05).

Abstract

Background

Although vitamin D deficiency is associated with several inflammatory conditions, there have been few studies on the effects of vitamin D supplementation on markers of oxidative stress (OS) and inflammation. The aim of the current study was to evaluate the effects of high-dose vitamin D supplementation on heat shock protein 27 antibody (anti-Hsp27) titers in adolescent girls.

Methods

Five hundred and fifty adolescent girls received vitamin D3 at a dose of 50,000 IU/week for 9 weeks. Demographic, clinical and biochemical markers including serum fasting blood glucose (FBG), lipid profile and anti-Hsp27 titers as well as hematological parameters including white blood cell (WBC) count and red blood cell (RBC) distribution width (RDW) were determined in all the subjects at baseline and at the end of the study.

Results

Serum vitamin D significantly increased from 6.4 (4.2–9.6) ng/mL to 35.6 (25.8–47.5) ng/mL (p < 0.001) following the intervention. Furthermore, serum anti-Hsp27 titers were significantly lower after the 9-week vitamin D administration period (0.22 [0.12–0.33] optical density [OD] vs. 0.19 [0.11–0.31] OD; p = 0.002). A significant correlation was found between serum anti-Hsp27 and RDW (r = 0.13, p = 0.037). The reduction in RDW values after intervention was particularly evident in subjects with the greatest increase in serum vitamin D levels.

Conclusions

High-dose vitamin D supplementation was found to reduce antibody titers to Hsp27. Further randomized placebo-controlled trials are warranted to determine the long-term effect of vitamin D administration on the inflammatory process especially that associated with chronic disease.