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Identification Of Two Novel Pnpla1 Mutations In Turkish Families With Autosomal Recessive Congenital Ichthyosis
(Turkish J Pediatrics, 2017)
Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization. ARCI patients generally represent serious symptoms including ...
Oral Health Status In Patients With Mucopolysaccharidoses
(Turkish J Pediatrics, 2018)
The aim of this study is to assess oral clinical and radiological findings of patients with mucopolysaccharidoses (MPS) which are a group of rare inherited disorders of glycosaminoglycan catabolism. In this retrospective ...
Factors Affecting Survival In Neonatal Surgery Unit In A Tertiary Care University Hospital During 26 Years
(Turkish J Pediatrics, 2016)
This clinical study was designed to evaluate mortality rate and the factors that may affect survival in neonatal surgery unit. Randomly chosen 300 (beta: 0.20) patients among 1,439 patients treated in neonatal surgery unit ...
Novel Pathogenic Variants Underlie Slc26A4-Related Hearing Loss In A Multiethnic Cohort
(Elsevier Ireland Ltd, 2017)
Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common ...
Functional Outcomes Of Mandibular Distraction For The Relief Of Severe Airway Obstruction And Feeding Difficulties In Neonates With Pierre Robin Sequence
(Turkish J Pediatrics, 2016)
The purpose of this study was to review the application of mandibular distraction to relieve severe airway obstruction or feeding problems of neonates. Thirteen neonates with Pierre Robin sequence who underwent bilateral ...
Parapharyngeal Giant Ganglioneuroma With Multifocal Bone Involvement In A Pediatric Female Patient
(Turkish J Pediatrics, 2016)
Ganglioneuroma is a rare benign tumor that originates from neural crest. Tumor tends to be slow growing, asymptomatic but can cause symptoms because of pressure to neighboring structures. In the head and neck region they ...
Why And When To Prefer Botulinum Toxin Injection In Childhood Strabismus?
(Turkish J Pediatrics, 2017)
The aim of this study was to investigate the indications and outcomes of botulinum toxin injection in children with strabismus. The medical records of children who underwent botulinum toxin injection were reviewed. Eighteen ...
Ewing'S Sarcoma Of The Mandible Misdiagnosed As Periodontal Inflammation: Report Of Three Cases
(Turkish J Pediatrics, 2017)
Ewing's sarcoma (ES) is the second most common childhood primary malignant tumor of the bone. The most popular locations of ES are long bones and pelvis. The involvement of the mandible is very rare in childhood. In last ...
Comparison Of Risk Scoring Systems In Congenital Heart Surgery
(Turkish J Pediatrics, 2016)
Hacettepe University Faculty of Medicine Department of Cardiovascular Surgery; data of 413 patients under 18 years old who had congenital heart surgery were evaluated between 01.01.2011-30.10.2012 and risk scorings were ...
Does Nissen Fundoplication Improve Deglutition In Children?
(Turkish J Pediatrics, 2017)
A prospective study was performed to evaluate the effect of Nissen fundoplication (NF) on deglutition in children. Children who underwent NF between 2011-2015 were evaluated for demographic features, clinical findings, ...