Dil "eng" Çocuk Sağlığı ve Hastalıkları Anabilim Dalı için listeleme
Toplam kayıt 113, listelenen: 61-80
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Identification of three novel mutations in fourteen patients with citrullinemia type 1
(Pergamon-Elsevier Science Ltd, 2017)Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, ... -
Immune response to SARS-CoV-2 and mechanisms of immunopathological changes in COVID-19
(WILEY, 2020)As a zoonotic disease that has already spread globally to several million human beings and possibly to domestic and wild animals, eradication of coronavirus disease 2019 (COVID-19) appears practically impossible. There is ... -
Impact of childhood obesity on cardiac structure and functions
(2017)Amaç: Bu çalışmada nonkomplike obez ve obez olmayan çocuklarda sol ventrikül yapı ve fonksiyonların karşılaştırılması amaçlandı.Gereç ve Yöntemler: 40 sağlıklı obez olmayan ve obezitenin komplikasyonu (hipertansiyon, ... -
Incidence of iodine deficiency in Turkish patients with congenital hypothyroidism
(Blackwell Publishing, 2008)Background: Turkey is located in an area of mild to moderate iodine deficiency. The aim of the present study was to investigate the incidence of iodine deficiency in patients with congenital hypothyroidism. Methods: Twenty ... -
Incidence, risk factors and severity of retinopathy of prematurity in Turkey (TR-ROP study): a prospective, multicentre study in 69 neonatal intensive care units
(Bmj Publishing Group, 2018)Background To evaluate the prevalence, risk factors and treatment of retinopathy of prematurity (ROP) in Turkey and to establish screening criteria for this condition. Methods A prospective cohort study (TR-ROP) was performed ... -
Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study
(PERGAMON-ELSEVIER SCIENCE LTD, 2020)Objective: This study aims to investigate the distribution, clinical characteristics and outcome of inherited coagulation disorders (ICD) in Turkish children. Subjects and methods: Data from all children (age < 18 years) ... -
Initial Ophthalmic Findings in Turkish Children with Autism Spectrum Disorder
(Springer/Plenum Publishers, 2015)Children with autism spectrum disorders (ASD) frequently have ophthalmologic disorders. Due to poor cooperation with ophthalmological examination, ocular abnormalities in such children may be overlooked. We retrospectively ... -
Intracranial hemorrhage due to vitamin K deficiency in ınfancy: Clinical and radiological findings
(2009)Bu çalışmada; K vitamini eksikliğine bağlı intrakraniyal kanaması olan 25 infantın klinik, radyolojik bulguları ve risk faktörleri geriye dönük olarak değerlendirildi. 25 olgunun 2 (%8)'si klasik tip ve 23'ü geç başlangıçlı ... -
Intracranial Lesions in Children and Adolescents with Morbid Obesity
(Galenos Yayincilik, 2017)Background: Intracranial lesions may affect the hypothalamo-hypophyseal axis and lead to some neuroendocrinological dysfunctions (hyperphagia, sleep disorders and hormonal dysfunctions). There is a very limited number of ... -
Intrascrotal Extratesticular Neurofibroma as a Possible Cause of Failed Descent in Ipsilateral Testis
(All India Inst Medical Sciences, 2012)Intrascrotal extratesticular neurofibromas (IEN) often originate from genitofemoral nerve (GFN) and present as a paratesticular mass. Synchronous presence of IEN and undescended testis has not been reported previously. A ... -
Investigation of the effect of dorsal penile block to penile tissue
(Elsevier Sci Ltd, 2015)Background Dorsal penile block (DPB) is a frequently used technique for regional anesthesia, but the effect of DPB on penile tissue has not been reported so far. Objective An experimental study was conducted to evaluate ... -
Knowledge of Primary Care Physicians on Lysosomal Storage Disorders
(2019)Aim: Since patients with lysosomal storage disorders (LSDs) often apply to primary care physicians initially, these doctors play a crucial role in the early diagnosis of LSDs. In this study, we aimed to determine the ... -
Management of hyperbilirubinemia in preterm infants in Turkey
(Tubitak Scientific & Technical Research Council Turkey, 2016)Background/aim: Prematurity is a significant risk factor for developing unconjugated hyperbilirubinemia. This study investigated the current approach to managing hyperbilirubinemia in preterm newborns in Turkey. Materials ... -
Management of hypoglycemia in newborn: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report
(Turkish Pediatrics Assoc, 2018)Hypoglycemia is one of the most important and most common metabolic problems of the newborn because it poses a risk of neurological injury, if it is prolonged and recurs. Therefore, newborns who carry a risk of hypoglycemia ... -
MEFV gene mutations in Henoch- Schonlein purpura
(Wiley, 2013)AimCoexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch-Schonlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to ... -
Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
(Springer-Verlag Berlin, 2011)Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with ... -
Novel approach for Newborn Errors in Metabolism Screening (NEMS) by NMR: Clinical NEMS-by-NMR Study in Turkey
(Pergamon-Elsevier Science Ltd, 2014)…