Search
Now showing items 1-10 of 27
A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschutter- Tönz syndrome
(Asean Neurological Assoc, 2020)
Kohlschutter-Tonz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, ...
An unexpected infection in loss-of-function mutations in STAT3: malignant alveolar echinococcosis in liver
(Tehran Univ Medical Sciences, 2020)
Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (S TAT 3) gene causes autosomal dominant hyper immunoglobulin E syndrome (AD-HIES or Job's Syndrome), a rare and complex primary ...
Does subclinical hypothyroidism affect dynamic thioldisulfide homeostasis and ischemia-modified albumin levels in children?
(Coll Physicians & Surgeons Pakistan, 2020)
Objective: To determine the effects of subclinical hypothyroidism on oxidative stress in children. Study Design: A cross-sectional study. Place and Duration of Study: Department of Paediatrics, Paediatric Endocrinology, ...
Bloody nipple discharge in 2 infants with interesting cytologic findings of extramedullary hematopoiesis and hemophagocytosis
(Lippincott Williams & Wilkins, 2012)
Bloody nipple discharge in the infantile period is an uncommon finding. Despite its stressful course to the parents, it is generally a benign condition with a spontaneous resolution. The approach to bloody nipple discharge ...
Peripheral lymphadenopathy in childhood: single center study
(Cukurova University Faculty of Medicine, 2015)
Purpose: Lymphadenopathy is defined as an abnormality in the size and/or character of lymph node. In this study we aimed to describe the clinical and laboratory findings of benign and malignant causes of peripheral ...
Investigation on malondialdehyde, s100b and advanced oxidation protein product levels in significant hyperbilirubinemia and the effect of intensive phototherapy on these parameter
(Elsevier Taiwan, 2015)
Background: The parameters of oxidative stress [advanced oxidation protein products (AOPPs), malondialdehyde (MDA), and S100B] and the effect of intensive phototherapy (PT) on these parameters have not been studied extensively ...
Association between early idiopathic neonatal jaundice and urinary tract infections
(Sage Publications Ltd, 2017)
Background and purpose: Etiologic role, incidence, demographic, and response-to-treatment characteristics of urinary tract infection (UTI) among neonates, its relationship with significant neonatal hyperbilirubinemia, and ...
Coincidence of anti-E and Rh incompatibility: which one is responsible for immunization?
(Cocuk Sagligi ve Hastaliklan Dergisi, 2016)
The frequency of hemolytic disease of the newborn due to maternal antibodies of subgroup incompatibility other than anti-D (Rh) antibodies has increased in recent years after the common use of anti-D (Rh) immunoglobulins ...
İmmünglobulin izotip eksikliği ile allerjik hastalıkların birlikteliği*
(2016)
Giriş: Sık enfeksiyon, süt çocukluğu ve okul öncesi dönemde polikliniklere başvuru nedenleri arasında ilk sıralarda yer almaktadır. Çalışmamızda, sık enfeksiyon yakınması ile başvuran ve immünglobulin izotip eksikliği ...
Evaluation of thyroid functions with respect to iodine status and TRH test in chronic autoimmune thyroiditis
(Galenos Yayincilik, 2011)
Objective: Chronic autoimmune thyroiditis (CAT) is the most common form of thyroiditis in childhood and a frequent cause of acquired hypothyroidism. The objective of this study was to evaluate the thyroid status of children ...
