Serum Alkaline Phosphatase Levels in Healthy Children and Evaluation of Alkaline Phosphatasez-scores in Different Types of Rickets

Objective: Serum alkaline phosphatase (ALP) levels show great variation with age and sex in children and adolescents. Additionally, different buffers used even in the same method cause variable results. This detail is not usually taken into account in the evaluation. We aimed to study pediatric age- and sex-specific reference ranges for ALP by colorimetric assay using p-nitrophenyl phosphate as substrate and diethanolamine as buffer and also to compare the ALP levels in patients with different types of rickets

Is metabolic syndrome associated with obstructive sleep apnea in obese adolescents?

WOS: 000367581700004PubMed ID: 26156956Objective: To investigate whether there is an association between metabolic syndrome and obstructive sleep apnea syndrome (OSAS) in obese adolescents. Methods: In total, 240 pubertal children or prepubertal children older than 11 y recruited consecutively from the pediatric endocrinology unit, obesity clinic. Patients with tonsillar and adenoid hypertrophy (grade 3/4), systemic illnesses, or chronic drug usage were excluded. After anthropometric measurement and laboratory study, patients were divided into two groups according to metabolic syndrome (MS): MS and non-MS. Overnight polysomnographic evaluation was performed and 104 subjects were included for statistical analysis. The two groups were compared in terms of sleep efficiency, number of awakenings per night, oxygen desaturation index, snoring time, and obstructive/central/mixed apnea-hypopnea index (AHI). Results: Of the obese adolescents, 51 had MS and 53 did not. The AHI was >= 1 in 25 of the 53 non-MS children (47.2%) and in 25 of the 51 MS children (49%). The median obstructive AHI value was 0.9 (0.2-2.4) and total AHI was 0.9 (0.2-2.5) in the MS group; these values were 0.9 (0.25-3.55) and 0.9 (0.3-3.55), respectively, in the non-MS group. Obstructive, central, mixed, and total AHI values in the MS and non-MS groups were not statistically significantly different (p > 0.05). Conclusions: In our study, we did not find an association between MS and sleep apnea in obese adolescents

İzole dudak-damak yarıklı Türk çocuk hastaların bölgesel dağılımı ve olası bölgesel etkiler

Amaç: İzole dudak-damak yarıkları multifaktöriyel anomaliler arasında yer almaktadır. Bu retrospektif-tanımlayıcı çalışmada izole dudak-damak yarıklı Türk çocuk hastaların Türkiye’deki bölgesel dağılımlarını inceleyerek bölgesel ve yaşam tarzlarının, anomalinin oluşmasındaki olası etkilerini saptamayı amaçladık. Yöntem: Temmuz 2006-Haziran 2010 yılları arasında doğum yapan yarık dudak- damaklı çocukların annelerinden; kökenleri, vitamin alımı dahil beslenme alışkanlıkları, iş ve yaşam biçimleri hakkında bilgi toplanmıştır. Bulgular: Bölgesel olarak incelendiğinde Türkiye’nin doğu bölgelerinde izole dudak- damak yarık vakalarının diğer bölgelere göre daha yüksek sayıda olduğu tespit edilmiştir. Etkilenen erkek çocukların kız çocuklara oranının 154/136 olduğu saptanmıştır. Annelerin doğum anlarındaki ortalama yaşının ise 24,7 olduğu belirlenmiştir. Çalışmamıza katılan anneler hayatları boyunca alkol veya sigara kullanmamıştır. Sonuç: Beslenme alışkanlıkları ve yaşam standartları bölgesel olarak değişmektedir ve bu değişimlerin izole dudak-damak yarık oluşumu üzerine etkileri vardır. Ancak sorumlu farklılıkların saptanabilmesi için daha detaylı çalışmalara ihtiyaç duyulmaktadır

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene

Neonatal diabetes mellitus (NDM) is a rare form of diabetes that presents within the first six months of life. Nearly 70% of these cases have loss of methylation at the differentially methylated region on chromosome 6q24. To describe the findings in a Turkish male patient with NDM caused by a loss of methylation at chromosome 6q24 and three novel homozygous mutations in the ZFP57 gene, methylation-specific PCR was carried out at 6q24 and mutation analysis of ZFP57 gene was maintained by direct sequencing. Sequencing of ZFP57 gene revealed the hypomethylation of chromosome 6q24 and three novel mutations (chr6:29.641.413 A>T, 29.641.073 C>T, and 29.640.855 G>C), respectively. The latter mutation seems to display the patient’s condition due to a highly conservative amino acid substitution in the protein. We suggest the ZFP57 gene as a causative factor for NDM and it should be considered in genetic testing. Further studies including functional analysis of the detected mutations will provide precise information regarding the effect of the mutations