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siklar, zeynep/0000-0003-0921-2694; ABALI, SAYGIN/0000-0001-6552-2801; Turan, Serap/0000-0002-5172-5402; UCAKTURK, Seyit Ahmet/0000-0001-8666-4454; yesiltepe mutlu, gul/0000-0003-3919-7763; Demir, Korcan/0000-0002-8334-2422; Hatun, Sukru/0000-0003-1633-9570 WOS: 000487006600007 PubMed: 31099079 Aims To describe the baseline clinical and laboratory findings and treatment modalities of 367 children and adolescents diagnosed with Type 2 diabetes in various paediatric endocrinology centres in Turkey. Methods A standard questionnaire regarding clinical and laboratory characteristics at onset was uploaded to an online national database system. Data for 367 children (aged 6-18 years) newly diagnosed with Type 2 diabetes at 37 different paediatric endocrinology centres were analysed. Results After exclusion of the children with a BMI Z-score < 1 SD, those with genetic syndromes associated with Type 2 diabetes, and those whose C-peptide and/or insulin levels were not available, 227 cases were included in the study. Mean age was 13.8 +/- 2.2 (range 6.5-17.8) years, with female preponderance (68%). Family history of Type 2 diabetes was positive in 86% of the children. The mean BMI was 31.3 +/- 6.5 kg/m(2) (range 18.7-61) and BMI Z-score was 2.4 +/- 0.8 (range 1-5). More than half (57%) of the children were identified by an opportunistic diabetes screening due to existing risk markers without typical symptoms of diabetes. Only 13% (n = 29) were treated solely by lifestyle modification, while 40.5% (n = 92) were treated with metformin, 13% (n = 30) were treated with insulin, and 33.5% (n = 76) were treated with a combination of insulin and metformin initially. Mean HbA(1C) levels of the insulin and combination of insulin and metformin groups were 98 (11.1%) and 102 mmol/mol (11.5%), respectively, and also were significantly higher than the lifestyle modification only and metformin groups mean HbA(1C) levels (70(8.6%) and 67 mmol/mol (8.3%), respectively). Conclusions An opportunistic screening of children who are at high risk of Type 2 diabetes is essential, as our data showed that > 50% of the children were asymptomatic at diagnosis. The other important result of our study was the high rate of exclusion from the initial registration (38%), suggesting that accurate diagnosis of Type 2 diabetes in youth is still problematic, even for paediatric endocrinologists.

Moyamoya hastalığı internal karotid arterin terminal bölümü ile ana dallarının ilerleyici stenozu ile karekterize sık görülmeyen bir serebrovasküler bir hastalıktır. Geçici iskemik atak, iskemik inme, intrakraniyal kanamalar, nöbetler, baş ağrısı, koreiform hareketler ve kognitif fonksiyon bozukluğu gibi çeşitli semptomları vardır. Burada geçici iskemik atak, sol hemiparezi ve tek taraflı koreiform hareketleri olan 14 yaşına moyamoya hastalığı tanısı konulan bir hasta sunuldu. Koreiform haraketler, ensefaloduroarteriyosinanjiozis operasyonu sonrası iki taraflı ve aşrırı şiddetlendi. Bu şiddetli koreiform hareketler dopamin reseptör blokör tedavisine dramatik cevap verdi.

Anemi, vitamin D ve demir eksikliği halen tüm dünyada önemli bir halk sağlığı problemidir. Vitamin D’nin kemik sağlığı dışında hücre proliferasyonu ve diferansiasyonu, apoptozis, immün sistem modülasyonu ve anti-inflamatuar etkileri de mevcuttur. Ayrıca D vitaminin demir metabolizması ve eritropoez üzerine de etki ettiği düşünülmektedir. Bu çalışmada, çocuklarda D vitamini eksikliği ile anemi ve demir eksikliği arasındaki ilişkinin gösterilmesi amaçlanmıştır. Erzurum Bölge Eğitim ve Araştırma Hastanesi Çocuk Endokrin ve Çocuk Hematoloji-Onkoloji polikliniğine Ocak 2014 ile Kasım 2015 tarihleri arasında başvuran, yaşları 1-18 arasında olan 105 hasta çalışmaya dahil edildi. Enfeksiyon/enflamasyon, kronik hastalık, talasemi taşıyıcısı bulguları olan hastalar çalışma dışı bırakıldı. Hastaların kayıtlarından kan sayımı, serum 25-hidroksi vitamin D (25D), serum demir, serum demir bağlama kapasitesi ve serum ferritin geriye dönük olarak incelendi. Çalışmamızda 25D düzeyi eksik, yetersiz ve normal olan gruplar arasında anemi görülme sıklığı (%11.1, %27.8, %11.9, sırasıyla, p=0.2), demir eksikliği görülme sıklığı (%33.3, %38.9, %33.3, sırasıyla, p=0.9), serum demir düzeyi (67.7±35.3 µgr/dL, 63.2±31.9 µgr/dL, 67.5±33.7 µgr/dL, sırasıyla p=0.8), serum ferritin düzeyi (26±18.9 mg/L, 24±16.4 mg/L, 22.5±18.1 mg/L, sırasıyla, p=0.4) ve transferrin satürasyon indeksi (%26.7±19.1, %22.5±13.2, %25.5±19.7, sırasıyla, p=0.7)açısından fark görülmedi. Çalışmamızda D vitamini ile anemi ve demir eksikliği arasında bir ilişki gösterilememiştir. D vitamininin, demir metabolizması ve eritropoez üzerine olan etkisini, enflamasyon yolakları ve hepsidin aracılığıyla yaptığını düşünmekteyiz. Sağlıklı çocuklarda D vitamini eksikliği ile anemi/demir metabolizması arasındaki ilişkiyi gösterecek ileri çalışmalara ihtiyaç vardır, Anemia, vitamin D and iron deficiency remains a major public health problem all over the world. Vitamin D is known for its crucial role in bone and mineral metabolism and is increasingly recognized to have extra-skeletal effects on cell proliferation and differentiation, immune function and anti-inflammatory effects. In addition, vitamin D is thought to have effect on iron metabolism and erythropoiesis. The aim of this research was to determine the effect of serum 25(OH) vitamin D (25D) on anemia and iron deficiency in childhood. A hundred and five patients aged between 1-18 years who were admitted Pediatric Hematology-Oncology and Pediatric Endocrinology out-patient clinic between January 2014 and November 2015 in Erzurum Regional and Research Hospital were enrolled in the study. The patients who had signs of infection/inflammation, chronic disease and thalassemia trait were excluded from the study. Data of patients, including gender, age, complete blood count, serum levels of 25D, iron, iron binding capacity and ferritin were retrospectively reviewed. In our study, the prevelance of anemia (11.1%, 27.8%, 11.9%, respectively, p=0.2), the prevelance of iron deficiency (33.3%, 38.9%, 33.3%, respectively, p=0.9), level of serum iron (67.7±35.3 µgr/dL, 63.2±31.9 µgr/dL, 67.5±33.7 µgr/dL, respectively, p=0.8), level of serum ferritin (26±18.9 mg/L, 24±16.4 mg/L, 22.5±18.1 mg/L, respectively, p=0.4) and index of transferrin saturation (26.7±19.1%, 22.5±13.2%, 25.5±19.7, respectively, p=0.7) was not different between 25D deficient, insufficient and normal groups. Our study has not shown an association between anemia, iron deficiency and vitamin D. We think that vitamin D has effect on iron metabolism and erythropoiesis through inflammation pathways and hepsidin. Further studies is needed to evaluate the relation between vitamin D and anemia/iron metabolism

Status epilepticus (SE) is one of the most important pediatric emergent conditions because of major cause of morbidity and mortality. SE should be diagnosed and treated emergently, because it is one of the diseases that may lead to serious sequalea. The aim of the study is to evaluate neuroimaging methods and electroencephalography (EEG) findings of patients with SE, who were under follow up at our hospital. 162 patients (age range, 0-18 years) with SE treated and followed at our hospital between December 2006 and May 2009 were enrolled in our study. Patient’s age, sex, MRI- CT imaging and EEG findings were recorded from patient’s files. Patient’s age and sex were similar. CT was available in 41 patients and MRI was available in 36 patients. CT results of 28 patients were normal, but some pathologies were found in 13 patients. MRI results of 14 patients were normal, but some alterations were detected in 22 patients. EEG was present in 97 patients. EEG results of 49 patients (%50.5) were normal. Consequently, there is no enough data regarding the necessity of the use of neuroimaging methods in case of previous etiology-confirmed SE. However, neuroimaging methods may be considered useful to determinate etiology of SE, response to treatment, and effects on long-term prognosis. Moreover, we can highlight that the early period EEG may be important in determining prognosis. Keywords: Status epilepticus, children, neuroimaging, EEG

Henoch - Schonlein purpura (HSP) is the most common vasculitic syndrome in childhood. The etiology of it infections, drugs, and autoimmune mechanisms have been implicated. It is a systemic disease associated with especially the skin, joints, gastrointestinal tract and renal involvement. Rhabdomyolysis is a clinical and biochemical syndrome that is induced by metabolic or structural abnormalities of skeletal muscles. Elevated levels of creatine kinase is the biochemical marker of rhabdomyolysis. Causes such as systemic diseases, hereditary muscle enzyme deficiencies, drugs, trauma, seizures, infection, repeated injections, and intense exercise should be considered when creatine kinase is high. However, there are the cases that is absence of any cause. In this article, we presented a case with rhabdomyolysis due to Henoch - Schonlein Purpura, and emphasized that HSP may be affect the muscles. Key Words: Child, Henoch - Schonlein Purpura, rhabdomyolysisÖzetHenoch-Schonlein Purpurası (HSP) çocukluk yaş grubunda en sık görülen vaskülitik sendromdur. Etyolojisinde enfeksiyonlar, ilaçlar ve otoimmün mekanizmalar suçlanmıştır. Özellikle deri, eklem, gastrointestinal sistem ve böbrek tutulumu ile seyreden sistemik bir hastalıktır. Rabdomiyoliz iskelet kaslarının metabolik veya yapısal anormalliğine bağlı olarak gelişen klinik ve biyokimyasal bir sendromdur. Rabdomyolizin biyokimyasal belirteci kreatin kinaz yüksekliğidir. Kreatin kinaz yüksekliğinde; sistemik hastalıklar, herediter kas enzim eksiklikleri, ilaçlar, travma, konvülziyon, enfeksiyon, tekrarlayan enjeksiyonlar, ağır egzersiz gibi nedenler gözden geçirilmelidir. Bununla beraber herhangi bir nedenin bulunmadığı olgulara da rastlanılmaktadır. Bu yazıda HSP’ye bağlı rabdomiyoliz gelişen bir olgu sunularak kasların da etkilenebileceği vurgulanmıştır. Anahtar Kelimeler: Çocuk, Henoch – Schonlein Purpurası, rabdomiyoliz

Objective: To investigate the effects of carbamazepine therapy on thyroid function tests in children Methods: The carbamazepine group consisted of 58 children under observation for epilepsy, and the control group of 54 healthy children. Age of onset, length of drug use, drug dosage and laboratory parameters including free triiodothyronine (FT3), free thyroxin (FT4) and thyrotropin (TSH) were recorded. These data were then compared against those from the control group. Results: In the carbamazepine group, FT3 was 3.86 ± 0.43 pg/mL, FT4 was 1.15 ± 0.18 mg/dL and TSH: 2.58 ± 1.33 ml U/L. In the control group, FT3 was 4.13 ± 0.59 pg/mL, FT4 1.34 ± 0.13 mg/dL and TSH was 2.06 ± 0.89 ml U/L. No statistically significant difference between rates of subclinical hypothyroidism was determined between the two groups (p=0.196). Conclusion: Although, carbamazepine reduces thyroid hormone concentrations, rarely causes hypothyroidism., Amaç: Çocuklarda karbamazepin tedavisinin tiroid fonsiyon testleri üzerine etkisini araştırmak Yöntem: Karbamazepin grubu epilepsi tanısıyla takip edilen elli sekiz çocuktan, kontrol grubu elli dört sağlıklı çocuktan oluşturuldu. Başlangıç yaşı, ilaç kullanım süresi, ilaç dozajı, ve serbest triiyodotironin (FT3), serbest tiroksin (FT4), tirotropin (TSH) parametrelerini içeren laboratuar parametreleri kaydedildi. Bu veriler kontrol grubuyla karşılaştırıldı. Bulgular: Karbamazepin grubunda sırasıyla, FT3 3,86 ± 0,43 pg/mL, FT4 1,15 ± 0,18 mg/dL TSH 2,58 ± 1,33 ml U/L olarak bulundu. Kontrol grubunda ise FT3 4,13 ± 0,59 pg/mL, FT4 1,34 ± 0,13 mg/dL ve TSH 2,06 ± 0,89 ml U/L olarak ölçüldü. İki grup arasında subklinik hipotiroidizm oranı istatistiksel olarak anlamlı değildi (p=0,196). Sonuç: Karbamazepin tiroid hormon konsantrasyonlarını düşürmesine rağmen nadiren hipotiroidizme neden olur.

Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.

Cayir, Yasemin/0000-0001-9133-5460 WOS: 000344634300026 Aim: Obstructive Sleep Apnea (OSA) affects approximately 1-10% of children. Nevertheless childhood OSA has not seen much interest and care about as much as adults by physicians. The aim of this study was to evaluate the recognition and management skills on the childhood OSA of family physicians. Material and methods: The OSAKA-KIDS questionnaire was applied to 95 family physicians who were asked if he/she would be willing to take part in the study by phone. The OSAKA-KIDS has 23-item questionnaire. While the first 18 questions of it assess the knowledge of physicians; the last 5 questions assess the attitudes of regarding childhood OSA. Associations between knowledge and attitude scores and variables were analyzed. Results: The mean total knowledge score was 72.2%. The level of family practitioners who thought that OSA represents a significant clinical problem was the same as that of those who regarded it as important to identify children with suspected OSA (89.5%). The level of those saying they could identify children with OSA was 30.6% (n=29). The level of those saying they could manage a child with OSA was 32.6% (n=31). Sixty-two percent of those saying they could diagnose children with OSA (n=18) also said they could manage pediatric OSA patients. The level of those confident in their abilities to manage children with OSA receiving CPAP therapy was 11.6% (n=11). Conclusion: This study highlights the need for more focused education on childhood OSA within undergraduate and post-graduate training programs for fanzily physicians.