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Objective: Diabetic ketoacidosis (DKA) is an important complication of type 1 diabetes mellitus. We aimed to evaluate the effect of metabolic disorders of DKA on electrocardiography (ECG) parameters in children. Methods: This study was performed between December 2018 and March 2020 and included 39 children with DKA and 40 healthy children. Three ECGs (one before and two after treatment) were obtained from the patient group. P-wave dispersion (Pd), QT dispersion (QTd), QTc dispersion (QTcd), Tp-e intervals, and the ratios of Tp-e/QT and Tp-e/QTc were measured electrocardiographically. ECG parameters from children with DKA and healthy controls were compared statistically. Results: The mean age of the patient group was 10.50±4.12 years. There was no significant difference in terms of age, gender, weight, height and body mass index between patients and controls. In the patient group, a statistically significant increase was found in Pd, QTd and QTcd in the initial ECG compared to the second and third ECGs. Also, when the first and third ECGs were compared, a significant increase in Tp-e and Tp-e/QT was evident in the first ECG. There was a significant difference in the values of Pd, QTd, QTcd, Tp-e and Tp-e/QT in the first ECGs, obtained before DKA treatment, and those values obtained from the control group. Conclusion: This is the first article evaluating Pd and Tp-e parameters in children with DKA. Cardiac arrhythmia risk markers were increased in children with DKA compared to controls. Therefore, clinicians should be aware of the possibility of developing new arrhythmias during DKA treatment.

Öz 1p36 Delesyon Sendromu 1. kromozomun kısa kolundaki parsiyel delesyon ile karakterize, nadir görülen bir konjenital malformasyon sendromudur. İlk vakalar Hain ve arkadaşları ile başlayarak 1980'lerin başında yayınlanmıştır. 1987'de Magenis ve arkadaşları ilk saf vakayı tarif etmiştir. Hastalığın görülme insidansı 1/5000-1/10000 olup, kadın-erkek oranı ise 2/1'dir. Karakteristik bulguları tipik yüz görünümü, gelişme geriliği, beslenme sorunları, santral sinir sistemi anomalileri, epilepsi, mikrosefali, görme problemleri, işitme kaybı, konjenital kalp defektleri, böbrek ve iskelet anomalileridir. Konjenital Sitomegalovirüs enfeksiyonunu ise spesifik bir tedavisi bulunmayan fetüs üzerinde kalıcı etkileri bulunan bir intrauterin hastalıktır. Sitomegalovirüs enfeksiyonunun yaygın klinik bulguları peteşi, doğumda sarılık, hepatosplenomegali, mikrosefali, hipotoni, beslenme güçlüğü, sensorinöral işitme kaybı, görme anormallikleri, epilepsi, gelişimsel serebral anomaliler, intrauterin gelişme geriliği, prematürite ve ölü doğumdur. Bu olgu, 1p36 Delesyon Sendromu gibi nadir görülen bir hastalığa ve ilk kez 7 aylıkken CMV-DNA pozitifliği saptanan konjenital Sitomegalovirüs enfeksiyonuna benzer bir kliniğe sahip nadir bir örnek olması nedeniyle bildirilmiştir. Anahtar Kelimeler: 1p36 delesyon sendromu, konjenital CMV enfeksiyonu, intrauterin enfeksiyon 1p36 Deletion Syndrome is a rare disease characterized by a partial deletion in the short arm of chromosome 1. The first reports of cases with microdeletion of chromosome 1p36 were published in 1980s, beginning with a report by Hain et al. The first pure case of 1p36 Deletion Syndrome was identified in the 1987 by Magenis et al. Its incidence is presumed as 1:5000 to 1:10000 and prevalence among men/women is 1/2. Characteristic signs are dysmorphic facial features, developmental delay, feeding difficulties, central nervous system anomalies, seizures, microcephaly, intellectual disability, vision problems, sensorineural deafness, congenital heart defects, skeletal and renal anomalies. Congenital Cytomegalovirus infection is an intrauterine disease with persistent effects on the fetus with no specific treatment. Common clinical findings are petechiae, jaundice at birth, hepatosplenomegaly, microcephaly, hypotonia, poor suck, sensorineural hearing loss, vision abnormalities, seizures, developmental cerebral anomalies, intrauterine development delay, prematurity and stillbirth. This case is reported due to being a rare sample having such a rare disease such as 1p36 Deletion Syndrome and a corresponding clinical picture to congenital Cytomegalovirus infection which she was firstly determined with a positive CMV-DNA level when she was 7 months old.

Cystic fibrosis (CF) is a chronic disease with autosomal recessive inheritance, chlorine duct defect, and multisystemic involvement. In this study, we evaluated the problems of our adolescent and adult patients with CF who were followed up in our unit to determine their problems at the regional level, to better observe their treatments, and to offer solutions for complications that occurred during their follow-up. Sixty-five patients with CF (50 adolescents and 15 adults) who consulted our clinic between September 2008 and November 2020 were included in this study, and their retrospective data were reviewed and saved. The mean age of the patients was 17.2±6.21 years, and the mean age at diagnosis was 7.1 years. Nearly three-quarters (73.8%) of the patients were adolescents, 26.2% were adults. Their mean body mass index (BMI) was 18.81±4.06 kg/m2. The mean FEV1 was 82.94±25.22% in the adolescent group and 64.47 ±28.47% in the adult group. Pseudo-Bartter syndrome was the most common clinical presentation in adolescents (44%) and productive cough 28.6% was most common in adults. The rate of bronchiectasis was 73.6% in the adults and 29.2% in the adolescents. CF-related diabetes was seen in 33.3% of the adults and 8.3% of the adolescents. Gastroesophageal reflux disease was present in 25.5% of the adolescents, but it was not seen in the adults. Mortality was 20.0% in the adult group and 4.1% in the adolescents. There was no significant difference between the groups regarding BMI, chronic pseudomonas colonization, and pulmonary exacerbation. In both groups, the most common allele (21.8%) was delf508. We saw that the disease complications were less in the adolescent group. We thought that early diagnosis and treatment were related to this condition