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Children with thalassemia major (TM) are prone to growth failure and micronutrient deficiency. Thus, this study aimed to evaluate nutritional status, anthropometrics, and bone mineralization defects in patients with regular blood transfusion.Data obtained were analyzed by evaluating laboratory tests, anthropometric measures, and bone mineral density.This study included 29 patients (62% male and 38% female) with a mean age of 12.26±4.74 years, mean pre-transfusion hemoglobin of 8.64±1.01 g/dL, and mean serum ferritin of 1158.6±556.8 ng/ mL. Vitamin D (72.4%), selenium (72.4%), and folate (37.9%) deficiencies were most frequent. Hypocalcemia was observed in 17.2%, hypomagnesemia in 3.5%, and decreased ceruloplasmin in 10.3% of patients. Folate was higher between 2 and 6 years old (p=0.028). Ceruloplasmin was higher between 6 and 10 years old (p=0.018). Selenium was significantly higher in patients with a ferritin of ≥1,500 (p=0.008). No significant ferritin-related differences were found in other micronutrients (p0.05). Body mass index (BMI) were5 percentile (p) in 31% of patient, whereas none was95 p. Height in 24.5% and weight in 20.7% of patients were3 p, whereas none with97 p. BMI of patients aged 10-18 years was significantly higher (p=0.001). Anthropometric percentiles did not significantly differ in the mean serum ferritin and micronutrient levels. Hypoparathyroidism was observed in 13.8% and hypothyroidism in 3.5% of patients. Low bone density was detected in 14.8% (2 osteopenic and 2 osteoporotic) of patients. Bone mineral density did not significantly differ in the ferritin and micronutrient levels.Nutritional support and deficiency prevention are important to minimize the burden of complications and increase the life expectancy and quality in patients with TM.Talasemi majör (TM) tanılı çocuklar büyüme geriliğine ve mikrobesin eksikliklerine yatkındırlar. Bu çalışmada, düzenli transfüzyon uygulanan hastalarda mikro besin seviyelerini, antropometrik ölçümleri, kemik mineralizasyon defektlerini değerlendirmeyi amaçladık.Laboratuvar testlerini, antropometrik ölçümleri ve kemik mineral yoğunluğunu değerlendirerek elde edilen verileri analiz ettik.Çalışmaya ortalama yaşı 12,26±4,74 yıl, ortalama transfüzyon öncesi hemoglobin 8,64±1,01 g/dL, ortalama serum ferritin 1158,6±556,8 ng/mL olan 29 hasta (%62’si erkek, %38’i kız) alındı. En sık vitamin D (%72,4), selenyum (%72,4) ve folat (%37,9) eksikliği saptandı. Hastaların %17,2’de hipokalsemia, %3,5 hipomagnesemi, %10,3 seruloplazmin düşüklüğü saptandı. Folat 2≤ ile6 yaş arasında, seruloplazmin 6≤ ile10 yaş arasında daha yüksek saptandı (sırasıyla p=0,028, p=0,018). Selenyum, ferritin ≥1.500 olan hastalarda anlamlı olarak yüksekti (p=0,008). Diğer mikrobesin düzeylerinde ferritin düzeyi ilişkili anlamlı farklılık saptanmadı (p0,05). Hastaların %31’inin vücut kitle indeksi (VKİ) 5. Persentilin (p) altındaydı. VKİ 95. p’nin üzerinde olan hasta saptanmadı. Hastaların %24,5’inin boyu, %20,7’sinin vücut ağırlığı 3. p’nin altındaydı. Boy ve vücut ağırlığı açısından 97. p’nin üzerinde olan hasta saptanmadı. Antropometrik ölçümlerin, hastaların kan mikrobesin ve ferritin düzeyleri ile anlamlı bir ilişkisi saptanmadı. On-18 yaş arasındaki hastaların VKİ anlamlı olarak daha yüksek bulundu (p=0,001). Antropometrik ölçümler, ortalama ferritin ve mikrobesin düzeyleri açısından anlamlı farklılık göstermedi. Hastaların %20,8’de endokrinolojik bozukluklar (hipoparatiroidi %13,8, hipotiroidi %3,5) gözlendi. Hastaların %14,8’inde (2 osteopenik, 2 osteoporotik) düşük kemik yoğunluğu saptandı. Kemik mineral yoğunluğunun mikrobesin ve ferritin düzeyleriyle anlamlı ilişkisi saptanmadı.TM hastalarında nütrisyonel eksikliklerin önlenmesi ve beslenme desteğinin sağlanması kemik mineralizasyon bozuklukları ve büyüme geriliği gibi komplikasyonların gelişiminin en aza indirilmesi açısından önemlidir.

Objectives Diabetic cystopathy is a condition characterized by decreased bladder sensitivity, increased bladder capacity, decreased bladder contractility and increased residual urine volume. It can also be considered as an early indicator of autonomic dysfunction. In this study, it was aimed to evaluate bladder functions by uroflowmetry in children and adolescents with the diagnosis of type 1 diabetes mellitus. Methods Type 1 diabetes mellitus children and adolescents were applied uroflowmetry and post-void residual urine volumes were evaluated. The physical examination findings of the patients and the laboratory data of diabetes control were obtained from the clinic files. Results A total of 51 cases aged 72–216 (155.6 ± 35.4) months were enrolled into the study. Diabetes age of the cases was 66.5 ± 46.2(13–180) months. The last one year average of HbA1c of the patients was found to be 9.7 ± 1.9%. A total of 9.8% had good, 39.2% moderate and 51% poor metabolic control, respectively. While urodynamic evaluation was normal in 36 (70.6%) of 51 participants, voiding dysfunction was found in 15. There was no statistically significant difference between groups with and without voiding dysfunction in terms of age, gender, duration of diabetes, metabolic control and HbA1c values. Conclusions It is very important to follow up patients with type 1 diabetes mellitus in terms of autonomic dysfunction. Diabetic bladder clinic, which can be observed independently of diabetes duration and metabolic control, is also included in this status. Urodynamic evaluation will be helpful both in demonstrating bladder dysfunction and in preventing possible complications.

Obesity in children appears to be associated with increased risk of cardiovascular and metabolic diseases later in life. Early development of insulin resistance (IR) may lead to endothelial dysfunction and increased carotid intima–media thickness (cIMT) even in childhood. We compared endothelial cell-specific molecule-1 (endocan) levels in pediatric obese patients with those in healthy controls to determine whether endocan could be used as a biological marker of complications caused by endothelial damage. In 80 obese pubertal children (44 males [M] and 36 females [F], mean age: 12.8 ± 2.5 years), anthropometric measurements, cIMT, endocan levels, and IR indices (homeostasis model assessment of insulin resistance [HOMA-IR]) were evaluated and compared with 80 healthy pubertal patients (42M/38F, mean age: 12.3 ± 3.2 years). High-resolution ultrasound was used to measure the cIMT. Obese children had higher levels of endocan compared with the controls ( P < .001). Fasting insulin levels and HOMA-IR were also higher in obese children ( P < .001 for both). In addition, obese children had an increased cIMT ( P < .001). In obese children, there was a significant correlation between cIMT and HOMA-IR (β = −1.314, P = .002) and between cIMT and endocan (β = .483, P = .004). Measuring cIMT and endocan levels (noninvasive investigations) in obese children, together with early preventive measures, could significantly decrease morbidity and mortality in adulthood.

Context There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. Objective This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. Methods Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography–mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology. Results A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (P Conclusion Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, but they are unlikely to point to a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, whereas little additional benefit is expected from WES.

Purpose Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Several semaphorins are known potent modulators of GnRH, olfactory, and vomeronasal system development. In this study, we investigated the role of Semaphorin-3F signaling in the etiology of IHH. Methods We screened 216 IHH patients by exome sequencing. We transiently transfected HEK293T cells with plasmids encoding wild type (WT) or corresponding variants to investigate the functional consequences. We performed fluorescent IHC to assess SEMA3F and PLXNA3 expression both in the nasal region and at the nasal/forebrain junction during the early human fetal development. Results We identified ten rare missense variants in SEMA3F and PLXNA3 in 15 patients from 11 independent families. Most of these variants were predicted to be deleterious by functional assays. SEMA3F and PLXNA3 are both expressed along the olfactory nerve and intracranial projection of the vomeronasal nerve/terminal nerve. PLXNA1-A3 are expressed in the early migratory GnRH neurons. Conclusion SEMA3F signaling through PLXNA1-A3 is involved in the guidance of GnRH neurons and of olfactory and vomeronasal nerve fibers in humans. Overall, our findings suggest that Semaphorin-3F signaling insufficiency contributes to the pathogenesis of IHH.

Introduction Chronic abdominal pain (CAP) is one of the most common indications of esophagogastroduodenoscopy (EGD) in the pediatric population. However, there is not enough information about the diagnostic yield of EGD in children with CAP. We aimed to evaluate the diagnostic yield of EGD in children with CAP in the Eastern Black Sea region of Turkey. Material and methods The study included children (n = 372) who underwent EGD for the primary indication of chronic abdominal pain during an 18-month period. We collected data on demographic features (age, sex), clinical characteristics (alarm symptoms), and EGD results for each patient. Results Patients' mean age was 13 years (range: 4-17 years; mean ± SD: 12.65 ±3.39 years), and the majority were female (n = 234, 62.9%). Endoscopy was diagnostic in 209 patients (56.2%; 95% CI: 30.35-40.05%). The most common diagnosis was Helicobacter pylori gastritis (35.2%) followed by reflux esophagitis. Significantly greater diagnostic yield of EGD was determined in patients with alarm symptoms (65.1%) compared to those without (45.2%) (OR = 2.26, 95% CI: 1.49-3.44, p = 0.001). Conclusions We determined a high diagnostic yield of EGD in children with CAP. Although the diagnostic yield of EGD in the assessment of CAP was found to be higher in the presence of alarm symptoms, a significant number of children without alarm symptoms were also found to have gastrointestinal system pathology diagnosed by EGD.

Objective: Soluble endoglin (S-endoglin) has been implicated as a potential marker of endothelial dysfunction (ED) and was reported to be elevated in diabetic adults, correlating with the severity of diabetic vasculopathy. However, circulating S-endoglin and its association with other markers of ED have not been formerly analyzed in the first decade of diabetes onset in adolescents with type 1 diabetes mellitus (T1DM). Methods: Fifty-eight adolescents with moderately/poorly controlled T1DM were included in this study and twenty-nine healthy adolescents served as controls. The diabetic group was divided into two groups based on the presence of microalbuminuria, as the microalbuminuria group (n=15) and the normoalbuminuria group (n=43). Functional vascular alterations were evaluated by measuring serum S-endoglin and plasma nitric oxide (NO) concentrations, the flow-mediated dilatation (FMD) of the brachial artery. Carotid intima media thickness (CIMT) was measured for evaluation of structural vascular alterations. Results: The S-endoglin and NO levels of both microalbuminuria and normoalbuminuria groups were higher than those of the control group (for S-endoglin, p=0.047 and p

The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown. To establish the prevalence of ACH, we examined the cortisol response to 1-µg and 250-µg ACTH tests, plasma aldosterone (A)/plasma renin activity (PRA) ratio, and serum dehydroepiandrosterone sulfate (DHEAS) levels in a large cohort of patients with thalassemia, and to investigate the impact of total body iron load (TBIL) on adrenocortical function. The setting used was University hospital and government-based tertiary care center. One hundred twenty-one (52 females) patients with β-thalassemia major (β-TM) and 72 healthy peers (38 females) were enrolled. The patients underwent a 250-µg cosyntropin test if their peak cortisol was

OBJECTIVES To investigate the utility of shear wave elastography (SWE) in detecting morphologic abnormalities of the median nerve and posterior tibial nerve in transverse and longitudinal axes in adolescents with type 1 diabetes mellitus (DM) without diabetic peripheral neuropathy (DPN). METHODS The median nerves and posterior tibial nerves of 25 adolescents with diagnosis and follow-up of type 1 DM without DPN and 32 healthy volunteers were evaluated with SWE by 2 observers on the transverse and longitudinal axes. The cross-sectional area and thickness of the nerves and disease duration were noted, and probable associations of these parameters with SWE features were analyzed. Interobserver and intraobserver correlations were also examined. The statistical significance level was set at P

Objective To evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes due to GH treatment. Methods Twenty-eight children with isolated GHD and 53 age-, gender- and body mass index-matched healthy volunteers were enrolled in this prospective study. The retinal nerve fibre layer (RNFL) and macular thickness (MT) were measured, as well as intraocular pressure (IOP). The number of retinal vascular branching points were calculated. Effect of GH treatment on the retina and IOP was evaluated after one year of treatment. Measurements were also made in the control group at baseline and following the initial examination. Pre- and post-treatment changes were compared. The findings were also compared with those of the controls. The correlation between ocular dimensions and insulin-like growth factor-I (IGF-1) levels were also analysed. Results The number of branching points was significantly lower in GHD patients as compared with control subjects (15.11±2.67 and 19.70±3.37, respectively, p=0.05 for all comparisons). No statistically significant differences were found in mean RNFL, MT and IOP values between GHD patients and control subjects. GH treatment did not create any significant changes in the retinal vascularization or other retinal neural parameters and IOP either within the patient group or when compared with the control group. No correlations were observed between ocular dimensions and IGF-1 levels. Conclusion Our findings suggest that isolated GHD may lead to decreased retinal vascularization. However, retinal neural growth and differentiation were not affected by GHD. These findings may be related to the fetal development process of pituitary somatotropic cells and the retina. Additionally, GH treatment did not cause any changes in retinal neural and vascular tissues.

Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45, X/46, XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

Background The aim of this study was to compare the nephrotoxicity risk of cisplatin (CPL) and ifosfamide (IFO) combination treatment (CT) with that of CPL alone and to evaluate the prevalence of CPL-induced long-term nephrotoxicity in pediatric cancer survivors (CS). Methods A total of 33 patients with pediatric solid tumors who have been cured of their disease were included in the study. They were divided into two groups based on the type of chemotherapeutics, either CPL (n = 21) or CT (n = 12), given during cancer treatment and were evaluated for glomerular and tubular function using the Skinner grading system. Results Nephrotoxicity was found in 15 CS (45.4%): seven (21.3%) of those had moderate, six (18.2%) had mild, and two (6.1%) had severe nephrotoxicity. Neither the rates of overall nephrotoxicity, glomerular toxicity and tubular toxicity, nor the mean overall, glomerular and tubular toxicity scores differed significantly among the CPL and CT groups (P > 0.05 for all parameters). Cumulative IFO dose and age at treatment were found to be independent risk factors for both development and severity of CPL-induced nephrotoxicity (P = 0.025 and P = 0.036 for development of nephrotoxicity; P = 0.004 and P = 0.050 for severity of nephrotoxicity, respectively). Conclusions Although CPL-induced long-term nephrotoxicity was found in half of the pediatric CS of solid tumors, clinically significant nephrotoxicity was detected only in a minority of them. Both higher cumulative IFO dose and younger age at treatment were found to be independent risk factors for both development and severity of CPL-induced nephrotoxicity.

Background/aim: Various studies have shown that adult patients with polycystic ovary syndrome (PCOS) have higher levels of anxiety and depression compared to their normal counterparts. However, it is still unclear whether these mood disorders already exist in adolescents affected by PCOS. The aim of the present study is to assess differences in anxiety and depression levels between adolescents with PCOS and age- and body mass index (BMI)-matched controls and to determine the possible factor(s) impacting these psychological parameters in adolescents with PCOS. Materials and methods: The study included 80 adolescents with PCOS and 50 age- and BMI-matched controls. All participants completed standardized questionnaires assessing anxiety and depression. A multiple linear regression model was used to analyze the impact of potential variables on anxiety and depression scores of the adolescents with PCOS. Results: Significantly higher levels of anxiety, specifically generalized and social anxieties, as well as depression were found in adolescents with PCOS compared to controls. Higher BMI was found to be associated with higher levels of depression and generalized anxiety, and higher modified Ferriman-Gallwey score with higher level of panic disorder in adolescents affected by PCOS. Conclusion: Adolescents with PCOS experience significantly more emotional distress compared to adolescents without PCOS. This emotional distress may be related, at least in part, to certain clinical features of PCOS including obesity and hirsutism. PCOS in adolescents should be assessed not only for the gynecological and metabolic aspects but also for the emotional aspects of the disease.

Objective: The aim of the present study was to document ovarian cyst frequency and characteristics as well as distribution of these parameters with respect to age in children and adolescents. Methods: We retrospectively analyzed the medical records of 1009 girls between the ages of 5-18 years who presented to our pediatric emergency department (PED) with pelvic pain and therefore underwent pelvic ultrasound examination between June 2011 and May 2014. Results: In total, 132 of 1009 girls (13.1%) were identified as having ovarian cysts ≥1 cm in diameter. The frequency of ovarian cysts was found to be 1.8% (6/337) in children aged 5-9 years and 18.8% (126/672) in those aged 10-18 years. All the cysts detected in children aged 5-9 years were small (5 cm) were identified in 19 adolescents (15.1%) with most occurring during middle adolescence. Of the 19 adolescents, five were found to have cyst-related significant ovarian pathologies including cystadenoma (n=3) and ovarian torsion (n=2). Conclusion: In children aged 5-9 years, ovarian cysts were infrequent and small (5 cm in diameter with a complex appearance in most.

Objective: Several studies have been performed concerning pathologies of the stomach and esophagus in the pediatric age group. However, there have been very few studies of duodenal pathologies in children. The authors aimed to examine the clinical, endoscopic, and histopathological characteristics, as well as the etiology of duodenal pathologies in children. Method: Patients aged between 1 and 17 years undergoing esophagogastroduodenoscopy during two years at this unit, were investigated retrospectively. Demographic, clinical, endoscopic data, and the presence of duodenal pathologies, gastritis, and esophagitis were recorded in all of the children. Results: Out of 747 children who underwent endoscopy, duodenal pathology was observed in 226 (30.3%) patients. Pathology was also present in the esophagus in 31.6% of patients and in the stomach in 58.4%. The level of chronic diarrhea was higher in patients with duodenal pathology when compared with those without duodenal pathology (p = 0.002, OR: 3.91, 95% CI: 1.59–9.57). Helicobacter pylori infection was more common in patients with pathology in the duodenum (59.3%). Conclusion: Duodenal pathology was detected in 30.3% of the present patients. A significantly higher level of chronic diarrhea was observed in subjects with duodenal pathologies compared to those with no such pathology. The rate of Helicobacter pylori infection was considerably higher than that in previous studies. In addition, there is a weak correlation between endoscopic appearance and histology of duodenitis. Resumo: Objetivo: Foram realizados vários estudos com relação a patologias do estômago e esôfago na faixa etária pediátrica. Contudo, poucos estudos das patologias duodenais em crianças. Visamos examinar as características clínicas, endoscópicas e histopatológicas juntamente com a etiologia das patologias duodenais em crianças. Método: Foram investigados retrospectivamente pacientes com idades entre 1 e 17 anos submetidos a esofagogastroduodenoscopia durante dois anos em nossa unidade. Os dados demográficos, clínicos e endoscópicos e a presença de patologias duodenais, gastrite e esofagite foram registrados com relação a todas as crianças. Resultados: Das 747 crianças submetidas a endoscopia, 226 (30,3%) pacientes apresentaram patologia duodenal. A patologia também esteve presente no esôfago de 31,6% dos pacientes e no estômago de 58,4% deles. O nível de diarreia crônica foi maior nos pacientes com patologia duodenal, em comparação aos pacientes sem patologia duodenal (p = 0,002, RC: 3,91, IC de 95%: 1,59-9,57). Infecção por Helicobacter pylori foi mais comum em pacientes com patologia no duodeno (59,3%). Conclusão: Foi detectada patologia duodenal em 30,3% de nossos pacientes. Um nível significativamente maior de diarreia crônica foi observado em indivíduos com patologias duodenais, em comparação aos sem nenhuma patologia. A infecção por Helicobacter pylori esteve presente consideravelmente maior que em estudos anteriores. Além disso, há uma fraca correlação entre a imagem endoscópica e a histologia de duodenite. Keywords: Duodenitis, Endoscopy, Children, Palavras-chave: Duodenite, Endoscopia, Crianças

Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, as well as growth and developmental delay. Although some endocrine abnormalities have been reported in this syndrome, very little is known about CFC syndrome-related endocrine disorders. A 7.5-year-old boy was admitted to our endocrinology clinic with the complaint of short stature. He had a height of 103 cm [-4 standard deviation (SD)], a weight of 16 kg (3(th) percentile, -1.7 SD), a facial appearance typical for the CFC syndrome, optic nerve hypoplasia and pulmonary stenosis. Genetic investigation revealed a heterozygous mutation in exon 3 of the MEK1 gene, c.389AG (p. Y130C). During his long-term follow-up, the patient developed a variety of endocrine disorders including precocious puberty, growth hormone deficiency and hyperprolactinemia.

Objective: Infections remain the major cause of unnecessary antibiotic use in pediatric outpatient settings. Complete blood count (CBC) is the essential test in the diagnosis of infections. C-reactive protein (CRP) is also useful for assessment of young children with serious bacterial infections. The purpose of the study was to evaluate leukocyte populations and CRP level to predict bacterial infections in febrile outpatient children. Materials and Methods: The values of CBC by Cell-DYN 4000 autoanalyzer and serum CRP levels were evaluated in 120 febrile patients with documented infections (n:74 bacterial, n:46 viral) and 22 healthy controls. Results: The mean CRP, neutrophil and immature granulocyte (IG) values were significantly higher in bacterial infections than in viral infections and controls (p

Amac: Bu calismada tip 1 diyabetli cocuklarin fiziksel veya sportif aktivitelere katilim durumlari ile cinsiyet, yasanilan sehir, ebeveyn egitim duzeyi ve glikolize hemoglobin (HbA1c) duzeyi arasindaki iliskinin incelenmesi amaclanmaktadir. Gerec ve Yontem: Calismada tip 1 diyabetli hastalarin ebeveynlerine yonelik web tabanli anket formu kullanilmistir. Calismanin orneklem grubunu Ankara, Istanbul, Izmir ve Trabzon’da yasayan tip 1 diyabetli cocuga sahip toplam 173 ebeveyn olusturmaktadir. Elde edilen veriler frekans ve yuzde olarak sunulmustur. Kategorik degiskenler Ki Kare yontemi ile analiz edilmistir. Bulgular: Rekreatif amacli fiziksel aktivite yapan cocuklarin orani (%78) yuksek bulundu.. Herhangi bir spor daliyla lisansli olarak ilgilenen cocuklarin oraninin ise (%32.4) dusuk oldugu saptandi. Cinsiyet ile fiziksel aktivite yapma arasinda anlamli bir iliski olmadigi tespit edildi (p > .05). Cinsiyet ile lisansli olarak spor yapma arasinda ise anlamli bir iliski oldugu saptandi (p .05). Yasanilan sehir ile duzenli olarak fiziksel aktivitelere katilim arasinda anlamli bir iliski oldugu saptandi. (p .05). Sonuc: Arastirmada tip 1 diyabetlilerin buyuk cogunlugunun rekreatif amacli fiziksel aktiviteye katildigi, lisansli olarak herhangi bir spor daliyla ilgilenenlerin oranin ise oldukca dusuk oldugu sonucuna ulasilmistir.

PurposeThe aim of this study was to assess the atherogenicity risk of antiepileptics in children by investigating the cascade, “hyperhomocysteinemia (HHcy)→asymmetric dimethylarginine (ADMA) increase→nitric oxide (NO) decrease”, which is thought to contribute to the developmental process of atherosclerosis.MethodsThe participants included 53 epilepsy patients who received either valproic acid (VPA, n=26) or oxcarbazepine (OXC, n=27). Twenty-four healthy sex- and age-matched children served as controls. Fasting plasma total homocysteine (tHcy), ADMA and NO levels were measured.ResultsThe differences in Hcy, ADMA, NO, vitamin B12 and folate levels between VPA, OXC and control groups were all insignificant (p>0.05 for all). In the patient group (VPA and OXC groups), 22.6% of the children (12/53) had tHcy levels above the normal cutoff (13.1μmol/l) for children and 17% of the children (9/53) had tHcy levels of greater than 15μmol/l which is accepted as the critical value for an increased atherosclerosis risk (p0.05, for both cut off levels of HHCy). There was a positive correlation of tHcy levels and antiepileptic drug treatment duration in the patient group (r=+0.276, p

Background:The aim of this study was to investigate the early signs of atherosclerosis and to evaluate serum endoglin and obestatin levels as predictors of subclinical atherosclerosis in obese children.Methods:A total of 95 children (60 obese and 35 controls) aged 10–18 years were included in the study. Their endoglin and obestatin levels and biochemical parameters were measured. The carotid intima media thickness (cIMT) and brachial artery flow-mediated dilatation (FMD) responses were evaluated.Results:The cIMT values were higher (p < 0.001) and FMD responses were lower (p = 0.003) in the obese group than in the control group. A logistic regression multivariate analysis revealed that cIMT was independently associated with the body mass index (BMI) Z-score (β = 0.323, p = 0.003) and low density lipoprotein (LDL) (β = 0.29, p = 0.008), while FMD % was independently associated with waist circumference (β = −0.36, p = 0.002). The obese and control groups were similar in endoglin (p = 0.67) and obestatin levels (p = 0.70). The endoglin level was inversely correlated with the cholesterol and LDL levels (r = −0.23, p = 0.032; rho = −0.25, p = 0.019).Conclusions:The cIMT and brachial artery FMD response in obese children are significantly different compared to healthy controls. Circulating endoglin and obestatin levels are not predictive markers for subclinical atherosclerosis in obese children aged 10–18 years old.

Arachnoid cysts (ACs), particularly suprasellar cysts, cause a wide spectrum of endocrine disorders. Herein, we report two patients diagnosed with an extensive AC in the middle cranial fossa while being investigated for etiologies of precocious puberty and short stature. One of them required surgery due to his pubertal disorders associated with compression effects of cyst. After surgery, his puberty progression was regressed within one year. On the other hand, surgery was not planned for the second patient considering of his cranial imaging findings and the extremely low incidence of growth hormone (GH) deficiency caused by middle fossa AC (MFAC). We started treatment with recombinant human GH and no complication was found during treatment follow-up. Endocrine disorders associated with MFACs are extremely rare. By presenting with these two cases, we aimed to remain our fellow physcians that ACs can be possibly cause of endocrine disorders. Clinicians should be careful evaluating endocrine disorders because real cause may not be cyst itself but masked by it.

ABALI, SAYGIN/0000-0001-6552-2801; Gurbuz, Fatih/0000-0003-2160-9838; Hatun, Sukru/0000-0003-1633-9570; Abaci, Ayhan/0000-0002-1812-0321; Turan, Serap/0000-0002-5172-5402; Buyukinan, Muammer/0000-0002-2937-823X; yuksel, bilgin/0000-0003-4378-3255; Ozgen, Ilker Tolga/0000-0001-6592-9652; binay, cigdem/0000-0002-7749-8818; ozkan, Behzat/0000-0002-9153-8409; Demir, Korcan/0000-0002-8334-2422; Eren, Erdal/0000-0002-1684-1053 WOS: 000373099300016 PubMed: 26788866 To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P

WOS: 000360842500004, PubMed: 26831551, Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).

WOS: 000351307200005, PubMed ID: 25800473, Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

To investigate whether there is a change in bone turnover-related biochemical markers and bone mineral density of children with constitutional delay of growth and puberty (CDGP) in the prepubertal period.We measured serum calcium, phosphorus, alkaline phosphatase, parathormone, 25-OH vitamin D, osteocalcin, osteoprotogerin and urinary deoxypyridinoline levels (D-pyd), and bone mineral density (BMD) in 31 prepubertal boys with CDGP. These children were compared with 22 prepubertal boys with familial short stature (FSS) and 27 normal prepubertal boys.Urinary D-pyd was significantly high in CDGP group as compared to control group (p=0.010). Volumetric BMD did not significantly differ between CDGP, FSS, and control groups (p=0.450). Volumetric BMD and urinary D-pyd levels of FSS and control groups were similar. Mean or median levels of calcium, phosphorus, alkaline phosphatase, parathormone, and osteoprotegerin did not significantly differ between CDGP, FSS, and control groups.Our data suggest that prepubertal boys with CDPG have normal bone turnover. However, their significantly higher urinary D-pyd levels relative to those of FSS and control groups might be an indicator of later development of osteoporosis. Therefore, long-term follow-up studies monitoring bone mineral status of prepubertal boys with CDPG from prepuberty to adulthood are needed to better understand bone metabolism of these patients.

The most devastating complication of familial Mediterranean fever (FMF) is amyloidosis which is capable of resulting in chronic renal failure. Although amyloid deposits are frequent in adrenal glands based on the autopsies of FMF patients however; to our knowledge, symptomatic adrenal insufficiency has not been reported yet. We describe a 21-year-old-FMF amyloidosis case with a well-functioning allograft who presented to the emergency clinic with the complaints of abdominal pain, vomiting and diarrhea mimicking FMF attack. adrenocorticotrophic hormone stimulation test was performed due to resistant hyponatremia and disclosed Addison disease. In countries with a high prevalence of FMF, adrenal crisis should be borne in mind in long standing FMF patients.

Pelvic ultrasonography (US) is a simple and non-invasive radiologic test to evaluate the pelvic organs. It requires a full bladder for better visualization. Our case is a 14-year-old female with diabetes insipidus (DI) who admitted to the pediatric emergency service with the complaints of seizure and agitation after drinking 4 liters of water in one hour for a pelvic US examination due to work-up for delayed puberty. Her biochemical and clinical evaluation revealed water intoxication (WI). To our knowledge, this is the first WI case developed in a patient with DI. Here, we discuss the underlying factors leading to this complication and recommended an approach to obtain a better sonographic image without necessitating oral water intake to fill the urinary bladder.

Background/Aims: Congenital hyperinsulinism (CHI) denotes an inappropriate secretion of insulin from pancreatic β-cells in the presence of a low blood glucose level due to various genetic causes. Diazoxide is the first-line medical treatment for CHI. In case of failure, a somatostatin analogue called octreotide is used. A prolonged QT interval is an unusual side effect of octreotide which can be lethal if unrecognized. Case Presentation: We report on a 35-day-old infant who was diagnosed with CHI on the 3rd day of his life and underwent pancreatectomy due to failure of medical treatment at 8 months. His genetic analysis revealed a compound heterozygosity for a novel missense mutation (p.Met115Val) and a nonsense mutation (p.Trp1339X) in the ABCC8 gene. Furthermore, at the 6th month of follow-up, a long QT (0.49 s) was determined by ECG examination, which was normalized following discontinuation of octreotide treatment after pancreatectomy. Thus, the long QT was considered to be secondary to octreotide medication. Conclusion: We recommend ECG monitoring before and during octreotide treatment in order to recognize a prolonged QT interval and to prevent related complications in cases with congenital hyperinsulinemia.

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disease. Presentation of the disease such as primarily fever, hepatosplenomegaly, and cytopenia, which are the results of functional degradation in cytotoxic T-lymphocytes and natural killer cells, activation of macrophages and T-lymphocytes, over production of proinflammatory cytokines, and hemophagocytosis. In all, 5 genetic loci have been identified in FHL, and all known affected genes encode critical components of the granule exocytosis pathway, which is essential for the release of cytotoxic granules and proteases that are necessary for targeted cell death. Herein we present an FHL patient with a severe clinical course and a very rare perforin gene mutation. The patient was homozygous for A665G mutation. However, the child died in a short period of time. Prenatal diagnosis was performed in the family and the fetus was found to be heterozygous for the mutation.Ailesel Hemofagositik Lenfohistiyositozis(AHL), genetik olarak oldukça heterojen bir hastalıktır. Sıklıkla ateş, hepatosplenomegali, sitopeni gibi bulgular görülebilir. Bu bulgular doğal katil hücreler ve sitotoksik T lenfositlerde fonksiyonel bozulma, makrofaj ve T lenfositlerde aktivasyon, proinflamatuar sitokinlerde artış ve hemofagositoz sonucu oluşur. AHL’de 5 ayrı genetik bölge tanımlanmıştır. Tüm bu bölgelerin ortak özelliği granul ekzositoz yolağı için kritik görev gören maddelerin yapımında rol oynamalarıdır. Bu makalede çok nadir perforin mutasyonuna sahip ve ağır klinik tabloyla erken dönemde kaybedilen bir olgu sunulmuştur. Hastada homozigot A665G mutasyonu bulundu. Hasta kısa sure sonra kaybedildi. Sonraki gebelikte prenatal tanı konuldu. Fetusda aynı mutasyonun heterozigotluğu gösterildi.

Topical application of eye drops may cause mild or severe adverse ocular or systemic effects. Children, particularly infants, are more prone to systemic adverse effects of topical eye drops because of their lower body mass and blood volume, immature metabolism, and immaturity of excretory, nervous, and cardiovascular systems. Early recognition of signs and symptoms of systemic toxicity is very important. Most of the signs and symptoms can resolve spontaneously; however, in severe cases, physostigmine treatment may be required. Respiratory distress is a rare adverse effect of cyclopentolate. We report an infant who developed respiratory distress after ocular instillation of cyclopentolate and was successfully treated with physostigmine. The benefit of physostigmine use with close follow-up should be borne in mind in cases with a life-threatening cyclopentolate adverse effect. Pediatrics 2012; 130:e703-e705

Objective.More than 50 disease-associated mutations of the Mediterranean fever gene (MEFV) have been identified in familial Mediterranean fever (FMF), some of which were shown to have different clinical, diagnostic, prognostic, and therapeutic implications. The aim of our study was to define the frequency of mutation type, genotype-phenotype correlation, and response to colchicine treatment in patients with FMF.Methods.This study included 222 pediatric FMF patients. All patients were investigated for 6 MEFV mutations. Then patients were divided into 3 groups according to the presence of M694V mutation on both of the alleles (homozygotes), on only 1 allele (heterozygotes), and on none of the alleles, and compared according to their phenotypic characteristics and response to treatment. M694V/M694V was denoted Group A, M694V/Other Group B, and Other/Other, Group C.Results.Complete colchicine response was significantly lower while the rate of unresponsiveness was significantly higher in Group A compared to Groups B and C (p = 0.031, p < 0.001 and p = 0.005, p = 0.029, respectively). No differences except proteinuria were found between the phenotypic features of 3 groups. Group C had the lowest rate of proteinuria development (p = 0.024). All the amyloidosis patients were in Group A.Conclusion.Our results indicate that the M694V/M694V mutation is associated with lower response to colchicine treatment. Therefore, patients homozygous for M694V/M694V may be carrying an increased risk for development of amyloidosis.