Purpose: To investigate the relationship between TSH levels and cardiometabolic risk factors in overweight/obese adolescents by gender. Methods: We performed a retrospective cross-sectional analysis of the data from 343 overweight/obese adolescents aged between 11 and 18 years. The degree of obesity was calculated as the body mass index standard deviation score (BMI-SDS). Hypertension, dyslipidaemia, hyperinsulinaemia, hyperglycaemia and insulin resistance were defined as cardiometabolic risk factors. The patients' TSH and free T4 levels were recorded, and the subjects with normal free T4 levels were included. Findings: A positive correlation was found between TSH level and homeostatic model assessment of insulin resistance (HOMA-IR), insulin and triglyceride levels (p=0.001, 0.001, 0.006, respectively). In the linear regression analysis, in which age, gender and BMI-SDS values were taken as covariates, a 10% increase in the geometric mean of TSH was associated with a 0.13 fold increase in HOMA-IR, and a 10% increase in TSH level was associated with a onefold increase in geometric mean of insulin level (p=0.003, 0.002, respectively), but the relationship between TSH and triglyceride levels disappeared. Conclusions: TSH levels were found to be related to the glucose metabolism. Further prospective studies are needed to clarify the mechanism of this relationship.

Laparoendoscopic single-site (LESS) surgery and minilaparoscopy (ML) represent the evolution of laparoscopy for the treatment of urologic diseases.To describe the technique and report the surgical outcomes of minilaparoendoscopic single-site dismembered pyeloplasty (MILESS-DP), a new technique overcoming the technical limitations of LESS and ML, and equally combining the advantages of both these surgical procedures.Twenty consecutive patients underwent MILESS-DP for ureteropelvic junction obstruction.The SILS port was inserted through a transumbilical incision and two 3-mm trocars were inserted in the ipsilateral midclavicular line. The sequence of steps of MILESS-DP is comparable to standard laparoscopic dismembered pyeloplasty.The end points of this study were: (1) feasibility; (2) safety; (3) efficacy; and (4) cosmesis, evaluated using a body image questionnaire.All patients were symptomatic (100%) and three (15%) had concomitant kidney stones. (1) Feasibility: a conversion to either standard laparoscopic technique or open technique did not occur in any case. Median operative time was 147.3 min (interquartile range [IQR]: 110–195 min); (2) safety: no intraoperative complications were reported. Only in two patients (10%), a urinoma was postoperatively identified and conservatively treated with an ureteral stent. The median difference in post- and preoperative creatinine and haemoglobin was +0.55 mg/dl and -0.76 mg/dl (IQR: -0.20/-1.20 mg/dl); (3) efficacy: the median postoperative hospital stay was 4.4 d (IQR: 4–9 d). The overall success rate was 95% at the follow-up; (4) cosmesis: all patients were enthusiastic with the appearance of the scars; the median body image score and the median cosmesis score were 19.95 (IQR 19–20) and 23.95 (IQR 23–24), respectively. The limitations of this study are the limited series and short follow-up.Our phase 2a studies demonstrate that MILESS-DP is a safe and reproducible procedure with excellent cosmetic outcomes and short-term clinical outcomes in the hands of a surgical team with experience in laparoscopy.Minilaparoscopy using 3-mm instruments and laparoendoscopic single-site using a single abdominal incision, still present several technical drawbacks which limit their reproducibility in urology. In order to overcome these technical limitations and equally combining the advantages of both these surgical procedures, we ideated a hybrid technique which we defined minilaparoendoscopic single-site. This study aims to demonstrate that minilaparoendoscopic single-site pyeloplasty is a safe and reproducible procedure with excellent cosmetic outcomes and short-term clinical outcomes in the hands of a surgical team with experience in mini-invasive surgery.

Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood. It is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patients from two families who have clinical and hormonal features compatible with corticosterone methyloxidase deficiency and inherit novel CYP11B2 variants. All of the patients presented with vomiting, failure to thrive and severe dehydration except one patient who had only failure to thrive. Biochemical studies showed hyponatremia, hyperkalemia and acidosis. All patients had normal cortisol response to adrenocorticotropic hormone stimulation test and had elevated plasma renin activity with low aldosterone levels. Three patients from the same family were found a novel homozygous variant c.1175T>C (p.Leu392Pro) and a known homozygous variant c.788T>A(p.Ile263Asn) in CYP11B2 gene. In one patient had a novel homozygous variant c.666_667delCT (p.Phe223ProfsTer35) ] in the CYP11B2 gene which caused a frame shift, forming a stop codon. Corticosterone methyleoxidase deficiency should be considered as a differential diagnosis in patients presenting with hyponatremia, hyperkalemia and growth retardation, and it should not be forgotten that this condition is lifethreatening if untreated. Genetic analyses are helpful in diagnosis of the patients and their relatives. Family screening is important for an early diagnosis and treatment. In our cases, we identified novel variants that were not previously reported in the literature, and which are likely to be associated with the disease.

Fibrosis related Liver Disease (CFLD).Ursodeoxycholic acid (UDCA) is recommended for management of abnormal liver function and or abnormal liver US, with referral to specialist liver services for persistently abnormal investigations.Methods: 3 year retrospective audit of practice against UK National Institute of Health & Care Excellence (NICE) and European CF Society guidelines.Review of biochemistry, radiology and clinic documentation in patients >1 year of age with cystic fibrosis.Results: 209 annual reviews were completed in 78 patients between 2016 and 2018.15 patients had <3 annual reviews due to age or transfer into clinic.One patient died.46/78 (59%) were female.Median BMI centile was 60.LFTs were performed in 196/209 (93.7%) of reviews, 44 (22.4%) were abnormal.200/209 (96.6%) reviews included liver US, 32 scans (16%) were abnormal.59/209 (28.2%) of reviews showed abnormal liver investigations but UDCA was only prescribed in 40/209 (19.1%).A previous study in the same clinic in 2002 showed use of UDCA in 29.9% of patients demonstrating a reduction in overall use of UDCA.2 patients with hepatomegaly or splenomegaly and abnormal LFTs were not referred to specialist service.8 patients had persistently abnormal LFTs despite UDCA but only one was referred to specialist service.No patient had evidence of liver failure, portal hypertension or haematemesis.Conclusion: In a regional paediatric service, >92% of investigations to identify CFLD were completed as per guidelines.Use of UDCA was less than expected compared to abnormal investigations and has declined since 2002.There was inadequate referral to specialist services when investigations remained abnormal despite treatment.These findings highlight the need for centres to complete regular audit to review investigation and management of CFLD. P311Clinical features of cystic fibrosis patients with chronic liver disease in the Turkish National Cystic Fibrosis Registry

BACKGROUND AND AIMS Although the presence of autoimmune thyroiditis (AT) in celiac disease (CD) has been well documented among adults, CD in AT has been less reported in children. We aimed to investigate the frequency of CD in children with AT. Materials and Methods : This prospective study was carried out from October 2015 to August 2016 and included 66 patients with AT. Firstly, total IgA and tissue transglutaminase antibody (tTG) IgA levels were measured. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Patients with positive EMA underwent gastroduodenoscopy for a definitive diagnosis of CD. RESULTS Sixty-six patients with AT (52 female) with mean age of 14.68 ± 3.18 years were enrolled. IgA deficiency was found in four patients. Only three of 66 patients (4.5%) were positive for tTG IgA. Patients positive for tTG IgA were then tested for EMA, and only one of them (1.5%) had positive EMA antibodies. Gastroduodenoscopy was performed in this patient. The result of pathological investigation was compatible with CD. Furthermore, one patient with AT had been diagnosed with CD previously. CONCLUSIONS Two (3.0%) of 66 patients with AT were found to have CD. According to the results, we assume that there is a close relationship between CD and AT disease. However, there is a need for multicentric, prospective studies that would support our findings.

Ethem Erginöz, Müjgan Alikaflifo¤lu*, Oya Ercan*, Ömer Uysal**, Bar›fl Ekici*, A. Deniz Kaymak***, Gülflah Oktay*, K. ‹lker Yücel*, Süheyla Ocak* Istanbul University Cerrahpafla Medical Faculty, Department of Public Health, ‹stanbul, Turkey * Istanbul University Cerrahpafla Medical Faculty, Department of Pediatrics, ‹stanbul, Turkey **Bezm-i Âlem Vak›f University Medical Faculty, Department of Medical Statistics Medical Informatics, ‹stanbul, Turkey ***Bo¤aziçi University Education Faculty, ‹stanbul, Turkey

Two cultivars of peanut (Arachis hypogaea L.) which were designated as resistant (Florispan) and sensitive (Gazipasa) according to their growth retardation under drought stress conditions were compared for their oxidative damage and antioxidant responses. Sixteen days-old peanut seedlings were subjected to PEG-6000 solutions of two different osmotic potentials; −0.4 and −0.8 MPa, and various growth parameters, photosystem II activity, changes in malondialdehyde (MDA), hydrogen peroxide (H2O2) and proline levels, activities of ascorbate peroxidase (APX), catalase (CAT), peroxidase (POX) and gluthatione reductase (GR) enzymes were determined. Both cultivars exhibited water deficit at −0.8 MPa osmotic potential of PEG-6000 and H2O2 levels significantly increased during exposure to −0.4 MPa osmotic potential. However, H2O2 levels were under control in both cultivars at exposure to −0.8 MPa osmotic potential. Significant proline accumulation was observed in the tissues of cv. Florispan at −0.8 MPa osmotic potential, whereas proline accumulation did not appear to be an essential part of the protection mechanism against drought in cv. Gazipasa. No significant variation in chlorophyll fluorescence values were detected in neither of the cultivars. Enzyme activity measurements revealed that Gazipasa copes well with lesser magnitudes of drought stress by increasing the activity of mainly APX, and during harsh stress conditions, only APX maintains its activity in the tissues. In cultivar Florispan, GR activity appears to take role in lesser magnitudes of drought stress, whereas CAT and APX activities appear to be very crucial antioxidative defenses during intense stress conditions. The results indicate that, the level of proline and activities of the enzymes CAT and APX are important mechanisms for the maintenance of drought tolerance in peanut plants.

Agenesis-Hypoplasia of the corpus callosum (ACC/HCC) is a common brain malformation of variable clinical expression that is seen in many syndromes of various etiologies. Although ACC/HCC is predominantly genetic, few genes have as yet been identified. There are several regions that were reported from patients with ACC/HCC so far. The only ACC/HCC causative gene identified from one of these regions thus far is AKT3 from 1q43-q44, although recent data suggest that FOXG1 in 14q12 may be another. On the other hand studies for identification of genomic loci contributing to ACC/HCC revealed several candicate loci that dominantly includes subtelomeric regions which are also widely accepted as related to developmental delay/mental retardation (DD/MR). These regions of chromosomes are rich in gene and their rearrangements cannot be identified by conventional chromosome analysis. This study included fifty patients with ACC/HCC. We are currently conducting subtelomeric-MLPA method to determine the subtelomeric copy number variations. The main purpose of this study is to classify patients according to their clinical picture (facial dysmorphism, cognitive functions, seizures etc.), cerebral magnetic resonance imaging findings and subtelomeric rearrangements. We believe that fine mapping of aberrations in gene-enriched subtelomeric regions in these patients provides both essential clues for localizing critical regions, and a strategy for identifying new candidate genes.