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Review Article
Immunology
Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns
Evgenia Olegovna Khalturina, Natalia Dmitrievna Degtyareva, Anastasiia Vasi’evna Bairashevskaia, Alena Valerievna Mulenkova, Anna Vladimirovna Degtyareva
Clin Exp Pediatr. 2021;64(10):504-510.   Published online March 25, 2021
· Neonatal screening for primary immunodeficiency diseases (PIDs) enables early diagnosis and subsequent initiation of therapy.
· Excision of T-cell receptors and kappa-recombination excision circles are cheaper alternative PID screening methods.
· Sanger DNA sequencing remains the reference method for detecting PID; however, next-generation sequencing technology is increasingly used to diagnose it.
· Here we developed a graphical algorithm for diagnosing primary immunodeficiency syndrome based on modern methods of screening for primary immunodeficiencies in newborns.
Case Report
Genetics and Metabolism
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so...

Original Article
Thyroid dysfunction in very low birth weight preterm infants
Ji Hoon Lee, Sung Woo Kim, Ga Won Jeon, Jong Beom Sin
Clin Exp Pediatr. 2015;58(6):224-229.   Published online June 22, 2015
Purpose

Thyroid dysfunction is common in preterm infants. Congenital hypothyroidism causes neurodevelopmental impairment, which is preventable if properly treated. This study was conducted to describe the characteristics of thyroid dysfunction in very low birth weight infants (VLBWIs), evaluate risk factors of hypothyroidism, and suggest the reassessment of thyroid function with an initially normal thyroid-stimulating hormone (TSH) as part of a newborn...

Case Report
Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
Sun Hee Lee, Yong Hee Hong
Clin Exp Pediatr. 2014;57(7):329-332.   Published online July 23, 2014

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although...

Original Article
Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
Se Jung Oh, Yong Hee Hong, Yong Wha Lee, Dong Hwan Lee
Clin Exp Pediatr. 2010;53(3):329-334.   Published online March 15, 2010
Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal...
Thyroid dysfunction in premature infants
Ki Bae Hong, Ji Yun Park, Young Pyo Chang, Jeesuk Yu
Clin Exp Pediatr. 2009;52(9):991-998.   Published online September 15, 2009

Purpose:Thyroid hormone is essential for development of the brain in early life. Thyroid dysfunction is more common in the first 2-4 postnatal weeks of life in premature infants than in term infants. This study aimed to identify the prevalence and clinical course of thyroid dysfunction in prematurity. Methods:Premature infants admitted to and given neonatal screenings at Dankook University Hospital between...
Interpretation of screening for congenital adrenal hyperplasia in preterm infants
Hye Rim Chung, Choong Ho Shin, Sei Won Yang, Kyong Ah Yun, Young Ah Lee, So Eun Park, Chang Won Choi, Byung Il Kim, Jung Hwan Choi, Junghan Song
Clin Exp Pediatr. 2008;51(6):616-621.   Published online June 15, 2008
Purpose : This study was undertaken to identify factors that influence 17-OHP levels in preterm infants and to suggest a reasonable follow-up schedule of screening for congenital adrenal hyperplasia (CAH) in preterm infants. Methods : The 17-OHP concentrations in filter paper blood spots of 427 preterm infants were obtained. The effects of gestational age (GA), systemic diseases, and antenatal dexamethasone...
Review Article
The prevalence of pediatric endocrine and metabolic diseases in Korea
Dong Hwan Lee
Clin Exp Pediatr. 2008;51(6):559-563.   Published online June 15, 2008
The government neonatal screening program has a 17-years history. Therefore, it can now provide information on the prevalence of endocrine and metabolic diseases which included in neonatal screening. Knowledge of the prevalence of metabolic diseases is very important with these results, the most effective screening methods can be determined and diseases can be identified that should be added to neonatal...
Original Article
Reevaluation of the Neonatal Screening Test for Congenital Hypothyroidism
So Young Kang, Young Pyo Chang, Jeesuk Yu
Clin Exp Pediatr. 2005;48(4):387-394.   Published online April 15, 2005
Purpose : We performed this study to compare the TSH and free T4 levels according to gestational age and birth weight, and to reevaluate the cut-off values in the neonatal screening test for congenital hypothyroidism. Methods : Total 2,133 neonates(1,749 healthy newborns and 384 sick neonates) were screened in Dankook University Hospital from May 2000 to January 2003. Neonates with abnormal...
A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea
Hoe Cheol Yoon, Nyeon Cheon Kim, Dong Hwan Lee
Clin Exp Pediatr. 2005;48(4):369-375.   Published online April 15, 2005
Purpose : Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. Methods : This study included 2,908,231 neonates who took the neonatal screening...
Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots
Kye Shik Shim, Jin Soon Hwang, Jung Sub Lim, Se Young Kim, Choong Ho Shin, Sei Won Yang, Jung Hwan Choi, Chong Ku Yun, Jung-Han Song
Clin Exp Pediatr. 1999;42(12):1639-1644.   Published online December 15, 1999
Purpose : There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut off values to minimize the false positive rates. Methods : We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases...
The Influence of the Use of Iodine during Perinatal Period on the Screening Test for Congenital Hypothyroidism
Gyu Bum Cho, Dong Hwan Lee, Sang Jhoo Lee
Clin Exp Pediatr. 1996;39(2):195-206.   Published online February 15, 1996
Purpose : This study was performed to detect the diseases of congenital hypothyroidism by the neonatal mass screening test early and to demonstrate the possible role of topical iodinated antiseptics(povidone-iodine, PVP-Ⅰ) on transient hyperthyrotropinemia in newborn infants. Methods : We performed neonatal screening tests for inborn errors of metabolism since 1985 by Guthrie test for PKU, maple syrup urine disease, histidinemia,...
Case Report
Two Cases of Congenital TBG Deficiency
In Seong Jo, Ha Joo Choi, Young Ah Lee, Woo Gap Chung, Youn Bok Chang
Clin Exp Pediatr. 1995;38(5):697-701.   Published online May 15, 1995
We have experienced 4 and 5-week-old male neonates presented low T4 and normal TSH l-evel by filter paper mothod for neonatal screening, finally diagnosed typical TDG deficiency wit h TBG radioimmunoassay, paper electrophoresis, and autoradiography. Two neonates have ha d no specific complaints and lived well until now. Congenital TBG deficiency is an X chromosome linked inhcritant disorder characterized by l...
Original Article
Normal Blood TSH, T4 Levels in Neonates as Determined by Screening Test
In Ah Cha, Kwang Sin Kim, Kyoung Sim Kim, Young Wook Kim, Ki Bok Kim
Clin Exp Pediatr. 1994;37(6):832-841.   Published online June 15, 1994
In 1,146 term neonates without perinatal problems who were born in kwangju Christian Hospital, blood TSH levels were measured by immunoradiometric assay. In 397 term neonates among them, blood T4 levels were measured by radioimmunoassay in same specimens. 1) In normal neonates aged 3~5days, 6~10days, 11~20days and 21~28days, the TSH levels were 8.885.21(meanSD), 9.44¡¾5.16, 9.69¡¾4.98, 11.963.75IU/ml and the T4 levels were...
Seventeen Years Experience on Inborn Errors of Metabolism A Study for Future Development of Inborn Errors of Metabolism in Korea.
Hong Jin Lee, Hyung Ro Moon
Clin Exp Pediatr. 1990;33(8):1031-1036.   Published online August 31, 1990
In Korea, the study of inborn errors of metabolism is very primitive. Even the incidence and prevalence of the disease of inborn errors of metabolism are not known in Korea. We have done this study of inborn errors of metabolism in Korea and concluded that: 1) The varieties and incidences of inborn errors of metabolism in Korea might be relatively diverse and high. 2) Nation wide mandatory...
Normal TSH Levels in Neonates by TSH Screening test.
Jae Won Song, Jong Lin Rhi, Sei Won Yang, Jung Hwan Choi, Chong Ku Yun, Hyung Ro Moon, Bo Youn Cho, Chang Soon Koh
Clin Exp Pediatr. 1988;31(6):754-761.   Published online June 30, 1988
In 110 term neonates without perinatal problems who were bom in SNUH, blood TSH levels were measured by TSH screening test for congenital hypothyroidism. The results are as follows 1) Normal TSH level was 14.8±7.8 µU/ml, 8.8±4.7 µU/ml, and 6.5±2.7 µU/ml in neonates of age 0 〜24 hours, 24—48 hours, and 48〜72 hours respectively, and all TSH values in neonates of age 48〜72 hours were...
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