An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib [0.03%]
一个易被忽视的可治疗性高胰岛素血症病例：糖基化缺陷型Ib型 councillen病
Pınar Haznedar,F Tuba Eminoğlu
Pınar Haznedar
Congenital glycosylation defects are autosomal recessive disorders clinically characterized with growth retardation, hypotonia and multisystemic involvement. Congenital glycosylation defect type Ib is due to deficiency in phosphomannose iso...
SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea [0.03%]
土耳其新生儿和其同胞兄妹先天性氯化物腹泻的SLC26A3突变
Erkan Doğan,Eylem Sevinç,Mehmet Akif Göktaş et al.
Erkan Doğan et al.
Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea. It generally becomes apparent in the neonatal period and is chara...
A case of Type 1 Dent disease presenting with isolated persistent proteinuria [0.03%]
一例以持续性孤立性蛋白尿表现为特征的Ⅰ型登特病病例报告
Tülin Güngör,Fehime Kara Eroğlu,Fatma Yazılıtaş et al.
Tülin Güngör et al.
Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the CLCN5 gene or OCRL gene. T...
Gülsüm İclal Bayhan,Ayşegül Taylan Özkan,Yunus Emre Beyhan
Gülsüm İclal Bayhan
Fascioliasis is a trematode flatworm infection caused by Fasciola hepatica and F. gigantica. Fasciola hepatica is mesoendemic in Turkey. Six cases of pediatric fascioliasis are presented here. All patients had histories of consumption of va...
Rituximab experience in children with nephrotic syndrome: what have we observed differently [0.03%]
利妥昔单抗治疗儿童肾病综合征的体会-我们观察到了什么不同？
İlknur Girişgen,Selçuk Yüksel,Yücel Pekal
İlknur Girişgen
Aim: We aimed to evaluate the efficacy of rituximab therapy in children with nephrotic syndromes and to share our experiences. Material and methods: ...
The clinical characteristics and prognosis of pertussis among unvaccinated infants in the pediatric intensive care unit [0.03%]
儿科重症监护病房中未接种疫苗的婴幼儿百日咳的临床特点及预后
Güntülü Şık,Asuman Demirbuğa,Agageldi Annayev et al.
Güntülü Şık et al.
Aim: To evaluate the clinical characteristics, risk factors, and prognosis of pertussis in the pediatric intensive care unit. Material and methods: ...
Neuromotor and sensory development in preterm infants: prospective study [0.03%]
早产儿的神经肌肉和感觉发育：一项前瞻性研究
Özgün Kaya Kara,Sedef Şahin,Koray Kara et al.
Özgün Kaya Kara et al.
Aim: To investigate the relationship between motor and sensory development in the first 4 months of life in preterm infants born at 32 gestational weeks and below. ...
Sema Büyükkapu Bay,Ömer Görgün,Rejin Kebudi
Sema Büyükkapu Bay
Aim: Malignant melanoma is the most frequent skin cancer in children and adolescents. It comprises 1-3% of all malignancies. In this study, we aimed to evaluate the clinical aspects, histopathologic features, and treatmen...
Berna Terzioğlu Bebitoğlu,Elif Oğuz,Çağatay Nuhoğlu et al.
Berna Terzioğlu Bebitoğlu et al.
Aim: A large number of medications are prescribed in pediatric clinics and this leads to the development of drug-drug interactions (DDI) that may complicate the course of the disease. The aim of the study was to identify ...
Developing a scale of social attitude towards childhood epilepsies: a validity and reliability study [0.03%]
一项关于童年癫痫社会态度量表的有效性和可靠性的研究
Kürşat Bora Çarman,Didem Arslantaş,Engin Karadağ et al.
Kürşat Bora Çarman et al.
Aim: There is no scale of social attitude towards childhood epilepsies. In this research study, it was aimed to develop a valid and reliable scale based on three-component attitude model to measure society's attitudes tow...