Clinical and Experimental Pediatrics

Original Article

Hematology

Impact of Xmn1 polymorphism on hydroxyurea therapy in children with HbE-β non-transfusion dependent thalassemia: a cohort study

Saheli Roy, Paramita Bhattacharya, Atanu Kumar Dutta, Mrinal Kanti Das

Clin Exp Pediatr. 2025;68(6):437-444. Published online February 3, 2025

Question: Does the T allele of Xmn1 polymorphism favorably influence hydroxyurea efficacy in children of Eastern descent with fetal hemoglobin (HbE)-β nontransfusion dependent thalassemia (NTDT)?
Finding: Decrease in transfusion requirement and increase in height following hydroxyurea therapy was noted in both groups, however, change in CT was more critical than that in CC genotype.
Meaning: T allele of Xmn1 polymorphism favorably influences hydroxyurea efficacy in children with HbE-β NTDT.

DOI: https://doi.org/10.3345/cep.2024.01284

Review Article

Genetic risk factors associated with respiratory distress syndrome

Heui Seung Jo

Clin Exp Pediatr. 2014;57(4):157-163. Published online April 30, 2014

Crossref 15

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in...

DOI: https://doi.org/10.3345/kjp.2014.57.4.157

Original Article

Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

Yu Mi Choi, Kye Sik Shim, Kyung Lim Yoon, Mi Young Han, Sung Ho Cha, Su Kang Kim, Joo Ho Jung

Clin Exp Pediatr. 2012;55(1):18-23. Published online January 31, 2012

Crossref 17

Purpose

Transforming growth factor beta receptor 2 (TGFBR2) is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the...

DOI: https://doi.org/10.3345/kjp.2012.55.1.18

The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease

Hyo Jin Lee, Myung Sook Lee, Ji Sook Kim, Eun Ryoung Kim, Sung Wook Kang, Soo Kang Kim, Joo Ho Chun, Kyung Lim Yoon, Mi Young Han, Seong Ho Cha

Clin Exp Pediatr. 2009;52(1):87-92. Published online January 15, 2009

Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT...

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