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Toplam kayıt 81, listelenen: 31-40
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 ...
Association Of Serum Soluble Urokinase Receptor Levels With Progression Of Kidney Disease In Children
(Amer Medical Assoc, 2017)
IMPORTANCE Conventional methods to diagnose and monitor chronic kidney disease (CKD) in children, such as creatinine level and cystatin C-derived estimated glomerular filtration rate (eGFR) and assessment of proteinuria ...
Etiology And Outcome Of Hydrops Fetalis: Report Of 62 Cases
(Elsevier Taiwan, 2014)
Aim: We aimed to define the etiologic and prognostic factors in live-born infants with hydrops fetalis (HF) in our tertiary neonatal intensive care unit over a 10-year period. Methods: Medical records of newborn infants ...
Anesthetic Management Of A Child With Cerebro-Oculo-Facio-Skeletal Syndrome
(2019)
Cerebro-oculo-facio-skeletal syndrome (COFS, Pena-Shokeir syndrome Type II, Cockayne syndrome Type II) is a rare progressive syndrome with autosomal recessive transition that may cause death in childhood. We aimed to present ...
Indicators Of Nutritional Status In Turkish Preschool Children: Results Of Turkish Demographic And Health Survey 1993
(Oxford Univ Press United Kingdom, 1996)
The Turkish Demographic and Health Survey (TDHS), conducted in 1993, provided data on the magnitude of malnutrition in a sample of 3152 preschool children from five geographical regions, and on its causal and conditioning ...
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, ...
Von-Willebrand-Factor Antigen Compared With Other Factors In Vasculitic Syndromes
(British Med Journal Publ Group, 1994)
In order to analyse their role as a specific marker of vascular damage and their value in monitoring disease activity the plasma concentrations of von Willebrand factor antigen (vWFAg) and the ristocetin cofactor (RiCoF) ...
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 ...