INTRODUCTION: Obesity may cause microangiopathic changes associated with the inflammatory process. The choroid tissue of the eye is one of the most highly vascularized tissues of body and supplies the outer 1/3 of the retina. Thinning in choroid tissue is an indicator of damage. Few studies have investigated obesity-induced choroid tissue damage in children, and their findings are inconsistent.
The purpose of this study was to investigate changes in choroid tissue thickness in non-diabetic children and adolescents using optic coherence tomography (OCT) and the association with metabolic risk factors.

METHODS: One hundred fifty-six eyes of 38 obese and 40 healthy children and adolescents aged 10-18 were included in the study. Bilateral choroidal thicknesses were measured. We then investigated correlations between choroidal thickness and age, body measurements, pubertal stages, systolic and diastolic blood pressures, homeostasis model assessment (HOMA-IR) and lipid values.
RESULTS: Mean choroidal thicknesses measured using OCT were 284.4 ± 34.9 µm in the obese group and 316.3±39.7 µm in the control group (p=0.018).Choroidal thickness in the obese group decreased as body mass index (BMI) standard deviation scores (SDS) increased (r= -0.390, p= 0.000).

DISCUSSION AND CONCLUSION: Mean choroidal thickness was lower in obese children and adolescents in this study compared to the healthy controls, and thinning in choroid tissue was more pronounced as BMI-SDS values increased. Increased adipose tissue may result in a susceptibility to damage by thinning choroid tissue.

INTRODUCTION: Down syndrome (DS) is a predisposing factor for osteoporosis. The aim of this study is to investigate the effect of resistance and jumping exercises on the bone mineral density (BMD) and bone mineral content (BMC) of patients with DS.
METHODS: DS and normal individuals aged between10 and 30 years old were randomized into an exercise group and a control group: a DS without-exercise group (n: 15), DS exercise group (n: 17), control without-exercise group (n: 18), and control exercise group (n: 20). A supervised 45-minute period of exercise was given to the DS exercise group and control exercise group three times per week for six months. The lumbar total and femoral neck BMD and BMC were measured both before and after six months of exercise using dual-energy X-ray absorptiometry.
RESULTS: The change in BMD and BMC over six months did not differ significantly between the exercise and control groups. The BMD and BMC of the DS exercise group decreased in the vertebral and femur areas over six months. The study on resistance and jumping exercises over six months did not lead to a significant change in the total BMD and BMC in the vertebral and femoral neck areas of the patients with DS.
DISCUSSION AND CONCLUSION: The decrease in BMD and BMC over six months in the DS exercise group is not a predictable result.

INTRODUCTION: The Crimean-Congo Hemorrhagic Fever (CCHF) is a tick-borne infection that has a high mortality. In Turkey, the total number of cases reported between 2002 -2014 is 9069 and 440 of them died. The aim of this study is to evaluate the demographic characteristics of the children with the complaint of tick bite and to determine the species of the ticks seen in Istanbul.
METHODS: One hundred sixty two of tick bite cases were analyzed in the aspect of demographic, clinical and laboratory findings between January and December 2014. The blood samples for whole blood count, prothrombin time, activated partial thromboplastin time, alanine aminotransferase, aspartate aminotransferase and creatinine were obtained from all cases and they were followed for 10 days. The ticks removed from patients were classified by the Department of Parasitology in The Veterinary Faculty of Istanbul University.
RESULTS: The mean age of the patients was 6.1 ± 3.7 years and 76% of them were male. Eighty four (52%) of the cases had additional complaints other than tick bite. The most frequently complaints were nausea /vomiting (26%), fever (19%) and cough (14%). We found that 34 (20%) of them had an abnormal laboratory results as elevated liver enzymes, leukocytosis, leukopenia, thrombocytopenia and prolonged PT. August was the month which most patients applied (56 cases, 34%). The regions of body that the most bitten by the ticks were extremities (35.8%). The total number of larvae, nymps and adult ticks were found as 4, 88 and 14, respectively.
DISCUSSION AND CONCLUSION: This study showed that tick species in Istanbul province were largely different from species causing CCHF. Although the incidence of CCHF in Istanbul is lower than the other regions of Turkey, children and their families who live in or travel to rural areas in Istanbul should be informed about disease.

INTRODUCTION: Type 1 diabetes mellitus (T1DM) is an oxidative stress condition in addition to being a chronic metabolic disease. In this study, our aim is to investigate the activity of antioxidative enzymes and the products of oxidative stress in children and adolescents with TIDM and compare the findings with those in healthy control subject.
METHODS: The study enrolled 41 children and adolescents with T1DM (mean age 11.4±3.3 years; 21 female, 20 male) and 25 healthy subjects (mean age 11.3±3.1 years; 8 female, 17 male) with similar age and gender distribution. Serum samples were obtained to detect the antioxidative enzymes of paraoxonase (PON), arylesteraze (ARE), oxidation degradation product of malondialdehyde (MDA) and also zinc which acts as antioxidant.
RESULTS: We found a significant decrease PON activity and zinc levels in diabetics as compared to healthy controls ( p=0.021; p<0.001, respectively). Zinc was negatively correlated to HbA1c (r = –0.317, p = 0.049). MDA and ARE did not showed a significant difference in the T1DM patients as compared to healthy subjects.
DISCUSSION AND CONCLUSION: Zinc level and PON activity were lower in diabetic children and adolescents. Further studies with larger samples are required to confirm their roles in the fallowing and prognosis of TIDM.

INTRODUCTION: Familial Mediterranean fever (FMF) is an autoinflammatory and chronic disorder. Colchicine has been prescribed to treat FMF since 1972. Balance is a complex function of the neuromuscular system. The aim of this study is to determine 1) if there is a connection between FMF and dynamic balance, 2) if colchicine use affects balance, and 3) if the disease severity score is related to a disruption in balance.
METHODS: The study examined 50 pediatric patients with FMF and 130 healthy age- and sex-matched children as control subjects. Dynamic postural stability was measured using the Biodex Stability System.
RESULTS: The stability indices were significantly higher in the FMF group than in the controls. There was no relationship between the FMF disease severity score and the three stability indices, while the colchicine dose was related to all three stability indices.
DISCUSSION AND CONCLUSION: By detecting any change in balance status early using a simple, safe, objective measurement of balance with the BSS in FMF patients, neuromyopathy could be identified earlier and unwanted outcomes prevented.

INTRODUCTION: Diaphragmatic eventration (DE) is the congenital or acquired elevation of hemi-diaphragm. Indication for surgery may be paradoxical because clinical symptoms do not always correlate with radiological severity. We aimed to identify the risk factors for the necessity and the efficiency of thoracoscopic diaphragmatic plication (TDP) in children with DE.
METHODS: Retrospective cross-sectional analysis of patients treated for DE (April 2006-August 2017) was performed. Demographics, type of DE, laterality, associated malformations, and clinical symptoms were evaluated. Patients were grouped in two groups (Moderate and Severe) according to diaphragmatic elevation levels on X-rays at admission. Severe group (SDE, n=14) had DE more than 2 vertebral bodies whereas DE was 2 vertebral bodies or less in Moderate group (MDE, n=16). Groups were then compared regarding the necessity of TDP. The efficiency of TDP was analyzed by comparison of the outcome of patients who underwent TDP with that of conservative management.
RESULTS: There were 30 DE cases with a median age of 13.75 months. DE was acquired in 5 patients. The right side was the dominant side (21/30). The most common clinical symptoms were pneumonia (21) and respiratory distress (7) whereas 6 cases were asymptomatic. Acquired DE and respiratory distress were significantly higher in SDE group. Four patients (25%) in the MDE and 13 patients (92.9%) in the SDE groups required TDP (p=0.000). Total number of pneumonia was significantly higher in conservatively treated patients in the follow-up (p=0.023).
DISCUSSION AND CONCLUSION: Two vertebral bodies may be an efficient cut-off level to discriminate between MDE and SDE. Absolute indications for TDP are severe DE, acquired DE and respiratory distress at admission. Patients that are conservatively treated are more prone to pneumonia.

INTRODUCTION: The aim of this study was to evaluate the cases hospitalized with lymphadenopathy in terms of demographic and clinical characteristics, lymph node involvement regions, infection markers and their diagnoses.
METHODS: The medical records of 56 children with lymphoadenopathy were reviewed retrospectively in the Ege University, Children's Hospital, General Pediatrics Unit between 2014 and 2017. Demographic characteristics, clinical findings, and accompanying complaints of the cases were examined. Laboratory tests including complete blood count, sedimentation rate, and other biochemical parameters were measured. Lymph nodes were assessed via Ultrasonographic examination in terms of distribution, number, size, and structure. Lymph node regions were described as anterior and posterior cervical, supraclavicular, submandibular, axillary, epitrochlear, inguinal and popliteal. Laboratory results, microbiological studies and histopathological examination results of the patients were evaluated.
RESULTS: Among the 56 patients enrolled in the study, 31 (55.4%) were male, 25 (44.6%) female and the median age was 3.7±7.1 years. The most frequent involvement location of the enlarged lymph nodes was the cervical area. Others settled the axillary, inguinal, supraclavicular region. The median results of the white blood cell, C-reactive protein and erythrocyte sedimentation rate were 13,670±9760/mm3, 1.9±5.4 mg/dl, and 42±51 mm/h, respectively. Ultrasonographic evaluation showed that lymph nodes were diagnosed with reactive hiperplasia in 69.6%, suppurative lymphadenopathy in 23.2%, and suspected malignancy in 7.1%. Most of the cases with lymphadenopathy resulted from a benign condition.
DISCUSSION AND CONCLUSION: Lymphadenopathy is a common complaint of childhood, mostly benign. The etiology should be elucidated using full history, careful physical examination, follow-up, laboratory, and imaging methods. A good physical examination and following-up the clinical features of the lymph node are more important than the laboratory and imaging methods. If there is no change in lymph node size in the follow-up, further studies should be performed.

Yaş ortalamaları 12 olan 4 olgu acil servisimize karın ağrısı şikayeti ile başvurudu. Olguların fizik muayenesinde alt kadranda, özellikle sağ iliak fossa hizasında hassasiyet mevcuttu. Üç yaşında olan en küçük olgunun acil başvurusunda aynı zamanda şok kliniği de mevcuttu. Şok kliniği olan hasta dışındaki hastaların çekilen direkt batın grafilerinde diafragma altında serbest hava mevcuttu. Sonrasında çocuk cerrahisi tarafından opere edilen hastaların 3’ne primer kapama, şokta olan diğer olguya parsiyel rezeksiyon uygulandı. İzlemde 3 yaşındaki en küçük olgu ex olurken, diğer olgular şifa ile taburcu edildi. Bu yazıda karın ağrısı ile başvurup, bağırsak perforasyonu saptanan 4 olgu, nadir görülen bir durum olması sebebiyle sunulmuştur.

Four children with a mean age of 12 years was referred to our emergency department with a history of abdominal pain. Examination revealed tenderness in the lower abdomen, in particular the left iliac fossa. The youngest child also presented with shock, who was 3 years old. Abdominal X-rays revealed free air under both hemidiaphragms. Subsequent surgery was administered as primary repair of three patients and partial resection in the remaining. The youngest child was died and others were discharged. These cases emphasizes that although uncommon, alternate diagnoses must be kept in mind in children presenting with lower abdominal pain.

Wilson hastalığı (hepatolentiküler dejenerasyon), otozomal resesif kalıtılan bakır transport bozukluğudur. Bozulmuş safra bakır atılımı, sıklıkla karaciğer, beyin ve korneada bakır birikime neden olmaktadır. Ailesel Akdeniz Ateşi (FMF), pyrin proteinini kodlayan MEFV genindeki mutasyon sonucu oluşan ve tekrarlayan ateş, poliserozit atakları ile karakterize otozomal resisif kalıtılan otoimmün bir hastalıktır. Bu sunumda, etyolojisi bilinmeyen kolestatik hepatiti olan ve daha sonra FMF tanısı konulan kız olgu sunulmuştur.

Wilson disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leads to accumulation of copper in mostly liver, brain, and cornea. Familial Mediterranean Fever (FMF) is an autosomal recessive autoimmune disease as a result of a mutation in MEFV gene encoding pyrin protein characterized by recurring fever, polyserositis attacks. In this report, we describe a Turkish female child with cholestatic hepatitis of unknown etiology and later diagnosed with typical FMF.

Maturity-onset diabetes of the young (MODY), otozomal dominant kalıtımla seyreden ve genellikle 25 yaş öncesinde ortaya çıkan, monogenik bir diyabet şeklidir. MODY, klasik olarak, insülin üretimi veya salgılanmasını etkilediği bilinen genlerdeki heterozigot bir mutasyon sonucu ortaya çıkmaktadır. Nadir görülen MODY tiplerinden biri olan inaktive edici heterozigot hepatocyte nuclear factor 4A (HNF4A) mutasyonu, özellikle adolesan dönemde, insülin sekresyonunu bozulmasına ve bunun sonucunda glukoz intoleransının oluşmasına yol açmaktadır. Buna karşılık, HNF4A mutasyonlarının yenidoğan döneminde, makrozomi ve hiperinsülinemik hipoglisemiye yol açtığı da bilinmektedir. Burada, HNF4A geninde yeni bir heterozigot mutasyon sonucu ortaya çıkan nadir bir diyabet nedenini bildiriyoruz. Sonuç olarak, MODY tipi ve tedavi şeklinin belirlenmesi açısından etiyolojiye yönelik moleküler analizler yapılmalıdır.

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with autosomal-dominant inheritance, which usually develops before 25 years. MODY is classically caused by a heterozygous mutation of genes known to affect insulin production or secretion. Heterozygous inactivating hepatocyte nuclear factor 4A (HNF4A) mutations, one of the rare subtypes of MODY, are caused to impaired insulin secretion and subsequent glucose intolerance especially in adolescence. Conversely, HNF4A mutations are also known to be associated with macrosomia and hyperinsulinemic hypoglycemia in newborn. Herein, we report a rare cause of diabetes resulting from a novel heterozygous mutation in the HNF4A gene. In conclusion, genetic testing should be considered to establish an accurate diagnosis and provide an opinion to determine the appropriate type of treatment.

Artrogripozis, renal tubuler disfonksiyon ve kolestaz (ARC) sendromu nadir, otozomal resesif bir multisistemik bozukluktur. Ağır büyüme geriliği, ihtiyoz, tekrarlayan febril hastalık, trombosit anormallikleri, sensörinöral işitme kaybı, hipotoni ve korpus kallozum disgenezi bu sendroma sonradan eklenen özelliklerdir. Biz burada genetik analizle tanısı konan bir ARC sendromu sunuyoruz.

Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growth retardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorinueral hearing loss, hypotonia and corpus callosum dysgenesis were later added features of the syndrome. We present a case of ARC syndrome diagnosed by genetic analysis.

Çocuklarda periferik fasiyal paralizi, yetişkinlere göre oldukça nadirdir. En sık nedeni idiopatiktir. Çocuklarda görülen periferik fasiyal paralizinin az rastlanan bir nedeni de travmadır. Kafa travması ve çoğunlukla temporal kemik kırıkları sonrası gelişir ve genellikle travmadan hemen sonra ortaya çıkar. Travmadan sonra erken dönemde gelişen fasiyal paralizi çoğunlukla fasiyal sinirin direkt hasarına bağlı gelişirken birkaç gün sonra ortaya çıkan fasiyal paralizinin nedeni konusunda tartışmalar vardır. Bu yazıda, kafa travmasından sonra altıncı günde ortaya çıkan periferik fasiyal paralizili çocuk hasta sunulmuş ve temporal kemik kırıkları sonucu gelişen geç travmatik fasiyal paralizilerin etiyopatogenezi ve tedavisi tartışılmıştır.

Peripheral facial palsy in children is very rare in comparison to adults. The most common cause is idiopathic. Another rare cause of peripheral facial palsy in children is trauma. It occurrs after head trauma, mostly due to temporal bone fracture as an early onset paralysis after trauma. Early onset facial palsy is usually due to direct damage to facial nerve whereas there is some controversy about the etiology of late onset facial palsy. In this article, a child patient whose peripheral facial palsy developed six days after head injury is presented, and the etiopathogenesis and the treatment of delayed traumatic facial palsy after temporal bone fracture is discussed.

Pilomatriksoma (Pilomatrikoma) (Malherbe’ nin kalsifiye epitelyoması) nadir görülen ancak çocukluk çağının ikinci en sık görülen benign deri tümörüdür. Kıl foliküllerinden köken almaktadır. En sık baş boyun bölgesinde görülürken üst ekstremitelerde de yerleşebilir. Diğer deri tümörleri ve maligniteler ile karışabilmektedir. Bu raporda, boyunda kitle sebebi ile başvuran ve pilomatrikoma tanısı konulan olgu sunulmuştur.

Pilomatrixoma (Pilomatricoma) (Malherbe’s calcifying epitelioma) although rare, is second most frequent benign skin tumor in childhood. It originates from the hair follicles. It is most commonly seen on the head and neck region, also may be located on the upper extremities. Diagnosis may be confused with other skin tumors and malignancias. In this case, we report a patient who present with a mass on neck and diagnosed as a pilomatrixoma.