Clinical and Experimental Pediatrics

Case Report

Genetics and Metabolism

Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee

Clin Exp Pediatr. 2016;59(Suppl 1):S19-S24. Published online November 30, 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S19

Original Article

Cardiology

Age-adjusted plasma N-terminal pro-brain natriuretic peptide level in Kawasaki disease

Heul Jun, Kyung Ok Ko, Jae Woo Lim, Jung Min Yoon, Gyung Min Lee, Eun Jung Cheon

Clin Exp Pediatr. 2016;59(7):298-302. Published online July 31, 2016

Crossref 8

Purpose

Recent reports showed that plasma N-terminal pro-brain natriuretic peptide (NT-proBNP) could be a useful biomarker of intravenous immunoglobulin (IVIG) unresponsiveness and coronary artery lesion (CAL) development in Kawasaki disease (KD). The levels of these peptides are critically influenced by age; hence, the normal range and upper limits for infants and children are different. We performed an age-adjusted analysis of plasma...

DOI: https://doi.org/10.3345/kjp.2016.59.7.298

Effect of early postnatal neutropenia in very low birth weight infants born to mothers with pregnancy-induced hypertension

Yang Hee Park, Gyung Min Lee, Jung Min Yoon, Enn Jung Cheon, Kyung Ok Ko, Yung Hyuk Lee, Jae Woo Lim

Clin Exp Pediatr. 2012;55(12):462-469. Published online December 20, 2012

Crossref 7

Purpose

In this study, we aimed to investigate the perinatal clinical conditions of very low birth weight (VLBW) infants born to mothers with pregnancy-induced hypertension (PIH) focusing on the effects of early postnatal neutropenia.

Methods

We reviewed the medical records of 191 VLBW infants who were born at Konyang University Hospital, between March 2003 and May 2011. We retrospectively analyzed the clinical characteristics...

DOI: https://doi.org/10.3345/kjp.2012.55.12.462

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