Clinical characteristics of a Turkish family with congenital erythrocytosis due to an EPOR mutation: Is routine phlebotomy indicated in children and adolescents? [0.03%]
由于EPOR基因突变而导致的土耳其一家先天性红细胞增多症患者的临床特点：儿童及青少年需常规放血治疗？
Nazan Sarper,Emine Zengin,Sema Aylan Gelen
Nazan Sarper
Here we present two siblings, a 9-year-old boy and a 15-year-old girl at presentation, with congenital erythrocytosis due to an EPOR c.1316G>A (p.Trp439Term) mutation. The patients had nausea, abdominal pain, and headache when they presente...
Acquired lung cysts in a premature neonate with congenital cytomegalovirus infection [0.03%]
先天性巨细胞病毒感染的早产新生儿获得性肺囊肿
Özmert M A Özdemir,Ceren Çıralı,Hacer Ergin et al.
Özmert M A Özdemir et al.
We report a preterm newborn diagnosed as having congenital cytomegalovirus infection who developed lung cysts during her clinical follow-up. The lung cysts were shown in chest X-ray, and confirmed by thoracic computed tomography. A few week...
Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation [0.03%]
伴有新发现的MYBP3突变的婴儿肥厚型心肌病植入心脏除颤器
Osman Güvenç,Kadri Karaer,Sertaç Haydin et al.
Osman Güvenç et al.
Hypertrophic cardiomyopathy has the highest incidence rate among genetically inherited cardiac diseases. It develops as a result of mutations in genes in related to the sarcomere protein in cardiac muscle. Generally, this results in asymmet...
Eosinophilic gastroenteritis as a cause of gastrointestinal tract bleeding and protein-losing enteropathy [0.03%]
嗜酸性胃肠炎作为导致胃肠道出血和蛋白质丢失性肠病的原因
Makbule Eren,Nujin Uluğ,Yusuf Aydemir
Makbule Eren
Eosinophilic gastroenteritis is an inflammatory disease characterized by pathologic eosinophilic infiltration of any portion of the gastrointestinal tract. Depending on the involved site and layer of eosinophilic infiltration, symptoms and ...
Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria [0.03%]
L-2-羟基戊二酸尿症患者的临床神经影像和基因型特点评估
Tanyel Zübarioğlu,Cengiz Yalçınkaya,Çiğdem Oruç et al.
Tanyel Zübarioğlu et al.
Aim: L-2-hydroxyglutaric aciduria is a slowly progressive neurometabolic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we aimed to evaluate the clinical, neuroradiologic, and geno...
Başak Koç,Nur Canpolat,İbrahim Adaletli et al.
Başak Koç et al.
Aim: Tolterodine is an anticholinergic drug used for the treatment of overactive bladder. We evaluated the effects of tolterodine on clinical symptoms and compared its efficacy with that of oxybutynin in terms of bladder ...
Validation of the Turkish Parent Supervision Attributes Profile Questionnaire [0.03%]
土耳其家长监管特性概况问卷的验证
Caner Özdemir,Ahmet Ergin,Serpil Uğur Baysal et al.
Caner Özdemir et al.
Aim: The most common cause of death in childhood is unintentional injury. Most childhood injuries occur when children are under the supervision of caregivers. There is no valid and reliable instrument for measuring the pa...
Assessment of dermatological quality of life in patients with childhood atopic dermatitis and their families [0.03%]
评估患有儿童特应性皮炎的患者及其家庭的皮肤生活质量
Fatma Özgüç Çömlek,Ali Toprak,Mustafa Atilla Nursoy
Fatma Özgüç Çömlek
Aim: Atopic dermatitis is a chronic, itchy, inflammatory skin disease that progresses with exacerbations. This study was planned to determine how atopic dermatitis affects the quality of life of patients and their familie...
The association of lipid metabolism and non-alcoholic fatty liver disease in children with obesity [0.03%]
肥胖儿童血脂代谢与非酒精性脂肪肝疾病的关联研究
İlhan Hazer,Hilmi Onur Kabukçu,Murat Yağcı et al.
İlhan Hazer et al.
Aim: Obesity, insulin resistance, and hyperlipidemia have been shown as risk factors for non-alcoholic fatty liver disease. In this study, the association between lipid and lipoprotein metabolism abnormalities and the pre...
Salih Çağrı Çakır,Hilal Özkan,Bayram Ali Dorum et al.
Salih Çağrı Çakır et al.
Aim: Umbilical venous catheters are frequently used in the neonatal period. The incidence of umbilical venous catheter-related thrombosis is between 1.3% and 43% in ultrasound scans. This study aimed to determine the inci...