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Toplam kayıt 66, listelenen: 31-40
Dermal Fibroblast Transcriptome Indicates Contribution Of Wnt Signaling Pathways In The Pathogenesis Of Apert Syndrome
(Turkish J Pediatrics, 2017)
Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis. Apert ...
Epigenotype And Phenotype Correlations In Patients With Beckwith-Wiedemann Syndrome
(Turkish J Pediatrics, 2018)
Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, ...
Cognitive And Behavioral Impairment In Mild Hyperphenylalaninemia
(Turkish J Pediatrics, 2018)
As elevated phenylalanine (Phe) is detrimental to brain functions, determining a safe upper limit of blood Phe is important for initiation of treatment plans and setting Phe targets in hyperphenlalaninemic patients. It is ...
A Turkish Bcs1L Mutation Causes Gracile-Like Disorder
(Turkish J Pediatrics, 2016)
A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly ...
Type Of Setting For The Inpatient Adolescent With An Eating Disorder: Are Specialized Inpatient Clinics A Must Or Will The Pediatric Ward Do?
(Turkish J Pediatrics, 2016)
There are a range of different services for treating adolescent eating disorders (ED) but there is no clinical consensus and a paucity of research indicating which type of treatment setting is the best. Although it would ...
Upper Extremity Impairments And Activities In Children With Bilateral Cerebral Palsy
(Kowsar Corp, 2017)
Background: There is a lack of evidence about the upper extremity impairments and function in children with diparetic cerebral palsy. Objectives: This study was planned to investigate the upper extremity impairments, ...
Pediatric-Onset Adult Type Sarcoidosis: A Case Report
(Soc Argentina Pediatria, 2015)
Sarcoidosis, a multisystem disorder of unknown etiology that involves multiple organs, is rare in children. The true incidence and prevalence of childhood sarcoidosis is unknown. As in adults, many children with sarcoidosis ...
Perfusion Index and Pleth Variability Index in the First Hour of Life According to Mode of Delivery
(Turkish J Pediatrics, 2018)
Perfusion index (PI) is a relative assessment of the pulse strength at the monitoring site. The plethysmographic variability index (PVI, pleth variability index) is a noninvasive and continuous measure of the dynamic change ...
Surgical and Clinical Strategies in the Management of Thyroid Medullary Carcinoma in Children with and without Ret Protooncogene Mutations
(Turkish J Pediatrics, 2016)
Boybeyi-Turer O, Vuralli D, Karnak I, Gonc N, Yalcin ES, Orhan D, Kandemir N, Tanyel FC. Surgical and clinical strategies in the management of thyroid medullary carcinoma in children with and without ret proto-oncogene ...
A Patient Heterozygous for R92Q Mutation with Periodic Fever and Aphthous Stomatitis, Pharyngitis, and Adenitis (Pfapa) Syndrome-Like Phenotype
(Turkish J Pediatrics, 2018)
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old ...