SoJIA patients had a significantly higher frequency of MEFV mutations but clinical studies with large number of patients are needed to confirm the association of MEFV mutations with SoJIA and its course.

Abstract. The aim of the present study is to investigate possible alterations in ghrelin and other hormone levels related to appetite and somatic growth in children with iron deficiency anemia. Twenty-five patients and 25 healthy controls that were prepubertal and within normal limits regarding height and BMI standard deviation scores were recruited. Ghrelin, leptin, IGF-I, IGFBP-3, insulin, thyroid hormones and cortisol levels were studied. Ghrelin, insulin and IGF-I levels were significantly low in the study group (ghrelin 13.58 ± 16.32 vs. 35.39 ± 23.69 ng/ml, p<.001; insulin 3.41 ± 2.42 vs. 5.67 ± 1.09 mU/ml, p = .008 and IGF-I 126.94 ± 92.82 vs. 203 ± 105.1 ng/ml, p = .015). We concluded that low ghrelin and insulin levels might be causes of the appetite loss in iron deficiency and as a result of appetite loss and undernutrition as well as by direct effects they might be related with growth retardation, which could be also influenced by low IGF-I levels.

Early diagnosis and treatment in mushroom poisoning can be life saving. Public awareness is very important in prevention of intoxication as well as encouraging early admission to hospitals.

There is a tendency to adiposity in patients with congenital adrenal hyperplasia (CAH) despite physiological corticosteroid doses. This study investigated body fatness in children with CAH under corticosteroid replacement therapy. Seventeen children with CAH (female:male, 9:8; age range 1.6-10.5 years) and 18 controls (female:male, 9:9; age range 1.4-10.2 years) were studied. Serum lipids, leptin, insulin, anthropometry, body circumferences, skinfold thickness, and body fat ratio as measured with bioelectrical impedance analysis (BIA) were the study parameters. Weight standard deviation scores (SDS), body mass index (BMI), BMI-SDS, body circumferences, skinfold thickness, and body fat ratio were higher and leptin was positively correlated with all of the body circumference and skinfold thickness parameters as well as body fat ratio in the study group. Waist/hip ratio was lower in the study group. Body fatness is a serious problem starting in early childhood in CAH patients and further refinement of the glucocorticoid replacement regimens as well as lifestyle measures are needed.

Derleme Akut Miyeloid Lösemi (AML)Akut miyeloid lösemi (AML) Key words: Acute myeloid leukaemia, AML, childhood leukaemia J Child 2012; 12(4):153-158 GİRİŞAkut miyeloid lösemi (AML), normal hücrelere göre proliferasyon hızı artmış, spontan apoptosisi azalmış hücrelerin kontrolsüz ve klonal proliferasyonu ile ortaya çıkan ve hızla artan bu hücrelerin kemik iliğini işgali ile seyreden bir malign hastalıklar grubudur. Uzun süreli izlemde çocuk hastalarda sürvi ülkelere göre % 40-60 oranındadır ve tüm lösemi hastalarının % 35'i hastalığa, tedavi toksisitelerine bağlı olarak kaybedilir. Son yıllar-da yüksek riskli hastaların belirlenip bu hasta gruplarına daha yoğun tedavi verilmesi ile düşük riskli hastalarda % 90'lara varan olaysız sağkalım, yüksek risk hastalarda da artan bir özelliktedir ve umut vericidir. EpidemiyolojiAML her yıl tanı konan yeni lösemilerin yaklaşık % 20'sini oluşturur. Çocukluk çağında ALL AML'den 4 kez fazladır, ancak yenidoğan döneminde AML çok daha sıktır. Adolesanda AML oranı artmaya başlar ve yeni vakaların % 50'si AML'dir. Bu artış erişkinde de sürer. Gelişmiş ülkelerde AML lösemilerin % 15'ini oluştururken, Türkiye ve diğer gelişmekte olan ülke-lerde bu oran 1:1'dir.ALL erkeklerde daha sık görülmekteyken AML'de sıklık açısından cinsler arasında fark yoktur. Irksal farklılıklar açısından sarı ırk ön sırayı alırken bunu beyaz ve siyah ırklar izlemektedir.AML sıklığının daha fazla olduğu kanıtlanan durumlar Tablo 1'de görülmektedir.

Objectives: The aim of this study was to evaluate the effect of amyloid deposition in colon mucosa on the results of anorectal manometry test and the use of ROME III questionnaire in patients with Familial Mediterranean Fever (FMF). Methods: The files of patients diagnosed with FMF were scanned to evaluate the patients at risk for amyloid deposition. Predisposing factors were identified. The patients were sampled using anorectal manometry test, Rome III questionnaire and the rectal mucosa suction biopsy and the test results were compared. Results: 17 (63%) of the patients were female and 10 (37%) were male. The mean age was 12.15 ± 2.40 years. The number of patients with amyloid deposition in the rectal mucosa sample was 2 (7.4%). Both of these patients had regularly used colchicine. Amyloid deposition was found to be high in patients with M694V homozygous mutation (P = 0.05). According to the Rome III questionnaire, findings suggestive of irritable bowel syndrome were found in 5 patients and abdominal migraine was found in 3 patients. However, no statistical difference was found when the results of the Rome III questionnaire were compared with the results obtained from the anorectal manometry test (P > 0.05). Conclusions: Amyloidosis can be seen due to various environmental factors, regardless of age, even when colchicine is regularly used. Anorectal manometry is an easy to perform test, helping diagnosis in this patient group. Although it has been shown that in patients with predisposing factors for amyloid deposition RAIR can be detected at lower pressures in anorectal manometry, the clinical significance of this finding is unclear. Since the Rome III questionnaire showed findings consistent with functional abdominal pain disease in one third of the patients, independent of the presence of FMF, it was found that the application of this questionnaire in patients with FMF could be misleading.

Background The aim of this study was to evaluate the effect of amyloid deposition in colon mucosa on the results of anorectal manometry test and the use of ROME III questionnaire in patients with Familial Mediterranean Fever (FMF). Methods The files of patients diagnosed with FMF were scanned to evaluate the patients at risk for amyloid deposition. Predisposing factors were identified. The patients were sampled using anorectal manometry test, Rome III questionnaire and the rectal mucosa suction biopsy and the test results were compared. Results 17 of the patients were female (63%) and 10 were male (37%). The mean age was 12.15 ± 2.40 years. The number of patients with amyloid deposition in the rectal mucosa sample was 2 (7.4%). Both patients regularly used colchicine. Amyloid deposition was found to be high in patients with M694V homozygous mutation (p <0.028). Patients with high proteinuria levels had higher FMF history in the family (p <0.046). It was found that patients with predisposing factors required lower volume for rectoanal inhibitory reflex (RAIR) detection (p <0.037). According to the Rome III questionnaire, findings suggestive of irritable bowel syndrome was found in 5 patients and abdominal migraine was found in 3 patients. However, no statistical difference was found when the results of the Rome III questionnaire were compared with the results obtained from the anorectal manometry test (p> 0.05). Conclusions Amyloidosis can be seen due to various environmental factors, regardless of age, even when colchicine is regularly used. Anorectal manometry is an easy to perform test, helping diagnosis in this patient group. Although it has been shown that in patients with predisposing factors for amyloid deposition RAIR can be detected at lower pressures in anorectal manometry, the clinical significance of this finding is unclear. Since the Rome III questionnaire showed findings consistent with functional abdominal pain disease in one third of the patients, independent of the presence of FMF, it was found that the application of this questionnaire in patients with FMF could be misleading.

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