Article 57(1); Jan 2014
Review Articles
Channelopathies
June-Bum Kim
Clin Exp Pediatr. 2014;57(1):1-18.   Published online January 31, 2014

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome,...

Primary repair of symptomatic neonates with tetralogy of Fallot with or without pulmonary atresia
Chang-Ha Lee, Jae Gun Kwak, Cheul Lee
Clin Exp Pediatr. 2014;57(1):19-25.   Published online January 31, 2014

Recently, surgical outcomes of repair of tetralogy of Fallot (TOF) have improved. For patients with TOF older than 3 months, primary repair has been advocated regardless of symptoms. However, a surgical approach to symptomatic TOF in neonates or very young infants remains elusive. Traditionally, there have been two surgical options for these patients: primary repair versus an initial aortopulmonary shunt...

Editorial
Association between respiratory viruses and asthma exacerbations
Woo Kyung Kim
Clin Exp Pediatr. 2014;57(1):26-28.   Published online January 31, 2014
Original Articles
Prevalence of respiratory viral infection in children hospitalized for acute lower respiratory tract diseases, and association of rhinovirus and influenza virus with asthma exacerbations
Jang-Mi Kwon, Jae Won Shim, Deok Soo Kim, Hye Lim Jung, Moon Soo Park, Jung Yeon Shim
Clin Exp Pediatr. 2014;57(1):29-34.   Published online January 31, 2014
Purpose

In this study, we aimed to investigate the prevalence of year-round respiratory viral infection in children with lower respiratory tract infection (LRTI) and the relationship between respiratory viral infection and allergen sensitization in exacerbating asthma.

Methods

We investigated the sources for acute LRTIs in children admitted to our hospital from May 2010 to April 2011. The 6 most common respiratory viruses were...

The correlation of blood pressure with height and weight in Korean adolescents aged 10-19 years; The Korean National Health and Nutrition Examination Surveys (2009-2011)
Young-Hwan Song
Clin Exp Pediatr. 2014;57(1):35-40.   Published online January 31, 2014
Purpose

Height-specific blood pressure (BP) is the standard parameter used to diagnose childhood hypertension. However, there has been some argument that weight may be a better variable than height in the reference BP standards. Therefore, before assessing the BP status using the reference BP standards, a basic understanding of the fundamental association of weight and height with BP is required.

Methods

In the...

Kidney size estimation in Korean children with Technesium-99m dimercaptosuccinic acid scintigraphy
Min Jung Lee, Mi Kyung Son, Byung Ok Kwak, Hye Won Park, Sochung Chung, Kyo Sun Kim
Clin Exp Pediatr. 2014;57(1):41-45.   Published online January 31, 2014
Purpose

Renal size is an important indicator to determine adequate organ growth in children. The aim of this study was to estimate renal size with Technesium-99m dimercaptosuccinic acid (DMSA) scan and propose a simple formula for predicting renal length in normal Korean children.

Methods

This study included 346 children (148 boys and 198 girls; age range, 1 month to 17 years) in whom...

Case Reports
Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome
Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim
Clin Exp Pediatr. 2014;57(1):46-49.   Published online January 31, 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located...

A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis
Jae Yeon Kim, Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, So Yoon Ahn, Eun Sun Kim, Ja-Young Seo, Eun-Sook Kang, Sun-Hee Kim, Hee-Jin Kim, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2014;57(1):50-53.   Published online January 31, 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with...

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