Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency.

Comparison of neonatal transport scoring systems and transport-related mortality score for predicting neonatal mortality risk.

Objectives: To predict the risk of mortality of neonates, birth weight and gestational age were previously used. However, these criteria were considered inadequate; therefore, various scoring systems have been developed in the recent years. The aim of the study was to evaluate the performance of predicting mortality by Mortality Index for Neonatal Transportation (MINT), Score for Neonatal Acute Physiology-Perinatal Extension II (SNAP-PE-II), and Transport Related Mortality Score (TREMS).

Surfactant treatment for neonatal respiratory disorders other than respiratory distress syndrome.

Background: It is suggested that there may be expanded use of surfactant replacement for the neonatal diseases such as meconium aspiration syndrome (MAS), pneumonia and possibly bronchopulmonary dysplasia (BPD).

Objective: To evaluate the characteristics and short-term outcome of the neonates given exogenous surfactant because of the diseases other than respiratory disease syndrome (RDS).

Methods: This retrospective study included 35 neonates admitted to the neonatal intensive care unit from January 2012 to December 2012 for an expanded use of surfactant.

Interrupter resistance changes in children with bronchiolitis.

Introduction: Determination of lung function in children younger than three years with bronchiolitis may aid in treatment; however, technical difficulties such as requirement of sedation and lack in standardization limit clinical use.

Objectives: Aim of this study was to evaluate lung function changes using the interrupter technique in unsedated wheezing children younger than 3 years during and after acute bronchiolitis.

Methods: Children with acute bronchiolitis younger than three years age were enrolled in this cohort study.

Metabolic and demographic characteristics of children with urolithiasis in Western Turkey.

Pediatric urolithiasis is an endemic disease in Turkey. We evaluated the clinical, radiological and metabolic features of children with urolithiasis in Western Turkey. We retrospectively reviewed the records of 85 children with urolithiasis who were followed-up between 2004 and 2010 in Pediatric Nephrology Department of Celal Bayar University, Manisa.