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Review Article
Lifelong medical challenges and immunogenetics of Turner syndrome
Won Kyoung Cho
Turner syndrome (TS) is a female phenotypic condition characterized by one or more typical clinical features and the partial or complete absence of a second X chromosome as determined by karyotype analysis. TS, among the most common chromosomal abnormalities, has an estimated prevalence of approximately 1 in 2,500 live-born females, with ethnic and racial differences. TS encompasses a wide array...
DOI: https://doi.org/10.3345/cep.2024.00430    [Epub ahead of print]
Infection
Pathogenetic and etiologic considerations of febrile seizures
Ji Yoon Han, Seung Beom Han
Clin Exp Pediatr. 2023;66(2):46-53.   Published online January 13, 2023
· Inflammatory responses accompanying fever increase neuronal excitability in the central nervous system, which in turn provokes seizures.
· Fever in children with febrile seizures is usually caused by common respiratory viruses, the distributions of which match those of seasonal community-acquired respiratory tract infections.
· Several genetic variations in ion channels seem associated with neuronal hyperexcitability in children with febrile seizures.
Neurology
Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel
Eun Hye Lee
Clin Exp Pediatr. 2018;61(4):101-107.   Published online April 23, 2018

Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount...

Nephrology (Genitourinary)
Genetics of hereditary nephrotic syndrome: a clinical review
Tae-Sun Ha
Clin Exp Pediatr. 2017;60(3):55-63.   Published online March 27, 2017

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic...

Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes
Su-Kyeong Hwang, Soonhak Kwon
Clin Exp Pediatr. 2015;58(11):407-414.   Published online November 22, 2015

Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and...

Recent update of autism spectrum disorders
Sung Koo Kim
Clin Exp Pediatr. 2015;58(1):8-14.   Published online January 31, 2015

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of...

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,...

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(7):224-231.   Published online July 17, 2012

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion,...

Ambient air pollution and allergic diseases in children
Byoung-Ju Kim, Soo-Jong Hong
Clin Exp Pediatr. 2012;55(6):185-192.   Published online June 21, 2012

The prevalence of allergic diseases has increased worldwide, a phenomenon that can be largely attributed to environmental effects. Among environmental factors, air pollution due to traffic is thought to be a major threat to childhood health. Residing near busy roadways is associated with increased asthma hospitalization, decreased lung function, and increased prevalence and severity of wheezing and allergic rhinitis. Recently,...

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome
Dong Kyu Jin
Clin Exp Pediatr. 2011;54(2):55-63.   Published online February 28, 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused...

Original Article
The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase(MCAD) Gene in Neonates Determined from Guthrie Card
Baeck Hee Lee, Hye Won Park, Moon Soo Park, Ho Jin Park, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 1997;40(12):1645-1650.   Published online December 15, 1997
Purpose : Medium chain acyl-CoA dehydrogenase(MCAD) deficiency is an autosomal recessive disoder of β oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However,...
Use of Fluorescent in Situ Hybridization to Evaluate the Number of Chromosomes in Buccal Smear Cells in Normal Newborn Infants
Byoung Chan Lee, Jee Yeon Song, So Young Kim, Hyun Hee Kim, Seunghoon Han, Jong-In Byun, Wonbae Lee, Kyong Su Lee
Clin Exp Pediatr. 1995;38(11):1470-1475.   Published online November 15, 1995
Purpose : The diagnosis for chromosomal anomality has been made by obtaining cells in metaphase from peripheral blood and fresh tissue culture. But this method is difficult to perform because somewhat invasive and necessary time for cell culture and staining(48-72hr). Recently, the method to find numerical abnormalities in, autosome and sex chromosome of adult buccal mucosal smear by FISH was...