Yayıncı "Turkish J Pediatrics" Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu için listeleme
Toplam kayıt 39, listelenen: 1-20
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A Novel De Novo Mutation Involving the Mll2 Gene in a Kabuki Syndrome Patient Presenting with Seizures
(Turkish J Pediatrics, 2016)Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old ... -
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 ... -
A Pheochromocytoma Case Diagnosed As Adrenal Incidentaloma
(Turkish J Pediatrics, 2017)There are two problems that needs to be addressed in cases of an adrenal incidentaloma. The first is to decide whether the adrenal mass is benign or malignant, and the second is to determine whether the mass is hormonally ... -
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 ... -
Advantage of the Subcutaneous Immunoglobulin Replacement Therapy in Primary Immunodeficient Patients With or Without Secondary Protein Loss
(Turkish J Pediatrics, 2018)In recent years subcutaneous immunoglobulin is widely used for primary immunodeficient patients. Subcutaneous administration provides a more stable and higher serum immunoglobulin levels due to continuous and steady ... -
Anauxetic Dysplasia: A Rare Clinical Entity
(Turkish J Pediatrics, 2018)Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional ... -
Changes Of Primary Headache Related White Matter Lesions In Pediatric Patients
(Turkish J Pediatrics, 2018)We aimed to describe the long-term prognosis of white matter lesions detected on magnetic resonance imaging in children with primary headache. Children who were admitted with the complaint of headache and had nonspecific ... -
Clinical And Genetic Features Of Il12R Beta 1 Deficiency: Single Center Experience Of 18 Patients
(Turkish J Pediatrics, 2016)Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular ... -
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 ... -
Comparison Of Weight Estimation Methods And Evaluation Of Usability Of Broselow Luten Tape In Turkish Children
(Turkish J Pediatrics, 2017)It is controversial which method is more reliable for weight estimation of a child in an emergent situation. The aim of this study is to compare different methods and to review the applicability of Broselow Luten tape for ... -
Cow'S Milk Protein Allergy Awareness And Practice Among Turkish Pediatricians: A Questionnaire-Survey
(Turkish J Pediatrics, 2017)Region-specific recommendations for the prevention, diagnosis, and treatment of cow's milk protein allergy (CMPA) are not available in Turkey. This cross-sectional questionnaire-survey was designed to evaluate CMPA awareness ... -
Defective Pneumococcal Antibody Response In Patients With Recurrent Respiratory Tract Infections
(Turkish J Pediatrics, 2017)Streptococcus pneumoniae is a common pathogen responsible for pulmonary infections and the leading cause of mortality and morbidity in patients with particularly B cell immunodeficiencies. Antibody production is the principal ... -
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 ... -
Diagnosis Of Cystic Fibrosis With Chloride Meter (Sherwood M926S Chloride Analyzer (R)) And Sweat Test Analysis System (Cf Delta Collection System (R)) Compared To The Gibson Cooke Method
(Turkish J Pediatrics, 2016)Sweat test with Gibson Cooke (GC) method is the diagnostic gold standard for cystic fibrosis (CF). Recently, alternative methods have been introduced to simplify both the collection and analysis of sweat samples. Our aim ... -
Does Inhaled Salbutamol Before Surfactant Therapy Have Any Beneficial Effect?
(Turkish J Pediatrics, 2018)Beta (beta)(2) adrenergic receptors are present in alveolar type II cells. Previously, the beneficial effects of inhaled salbutamol treatment on respiratory outcomes were shown in premature infants with transient tachypnea ... -
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, ... -
Evaluation Of Central Nervous System In Patients With Glycogen Storage Disease Type 1A
(Turkish J Pediatrics, 2016)We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic ... -
Evaluation Of Psychological Characteristics Of Turkish Children With Type 1 Diabetes Mellitus From Two Demographically And Geographically Distinct Regions
(Turkish J Pediatrics, 2018)Type 1 diabetes mellitus (T1DM), patients have an increased risk of psychiatric morbidity compared to their healthy counterparts. The aim of the present study is to evaluate the demographic and laboratory data and psychological ... -
Evaluation Of Tissue Doppler Echocardiographic Imaging Findings In Children With Pulmonary Hypertension
(Turkish J Pediatrics, 2017)Tissue Doppler Imaging has become an important prognostic marker that can be used in follow-up and determination of the prognosis in pulmonary hypertension patients. We compared the Tissue Doppler imaging parameters of 34 ... -
Fibrous Hamartoma Of Infancy: A Case Report With Typical Ultrasonographic Findings
(Turkish J Pediatrics, 2016)Fibrous hamartoma of infancy (FHI) is a rare, benign lesion which is commonly seen under two years of age. Clinical and radiological features of FHI can mimic malignant soft tissue sarcomas, it is important to make ...