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Review Article
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.
Update on eosinophilic gastrointestinal disease beyond eosinophilic esophagitis in children
HYE RAN YANG
Eosinophilic gastrointestinal disease (EGID) is an emerging condition worldwide in both children and adults, although it is considered rare. EGID has been underestimated owing to its underdiagnosis in the past, and its prevalence has recently increased. The diagnosis of EGID is based on histopathologic findings of endoscopic mucosal biopsy in which the total number of infiltrating eosinophils in each segment...
Endocrinology
Genetic factors in precocious puberty
Young Suk Shim, Hae Sang Lee, Jin Soon Hwang
Clin Exp Pediatr. 2022;65(4):172-181.   Published online October 18, 2021
· Mutations in the kisspeptin (KISS1), kisspeptin receptor (KISS1R), makorin ring finger protein 3 (MKRN3), and delta-like homolog 1 (DLK1) genes are associated with idiopathic central precocious puberty (ICPP).
· A few genes related to pubertal onset have been implicated in ICPP.
· Epigenetic factors such as DNA methylation, histone posttranslational modifications, and noncoding ribonucleic acids may be related to ICPP
Nephrology (Genitourinary)
Obesity and chronic kidney disease: prevalence, mechanism, and management
Hyung Eun Yim, Kee Hwan Yoo
Clin Exp Pediatr. 2021;64(10):511-518.   Published online April 6, 2021
· Obesity is strongly associated with the development and progression of chronic kidney disease.
· Altered renal hemodynamics, metabolic effects, and lipid nephrotoxicity may play a key role in the development of obesity-related kidney disease.
· Children born to obese mothers are at increased risk of developing obesity and chronic kidney disease later in life.
· A multilevel approach is needed to prevent obesity and related chronic diseases.
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.
Allergy
Eosinophils and childhood asthma
Bong Seok Choi
Clin Exp Pediatr. 2021;64(2):60-67.   Published online January 6, 2021
•In allergic eosinophilic asthma, eosinophils act as important effector cells and antigen-presenting cells, while in nonallergic eosinophilic asthma, type 2 innate lymphoid cells play an important role in eosinophil activation.
•Sputum eosinophil counts can be helpful for evaluating allergic airway inflammation in asthma.
• Anti-interleukin-5 has broadened the scope of asthma treatment.
Immunology
Immunopathogenesis of COVID-19 and early immunomodulators
Kyung-Yil Lee, Jung-Woo Rhim, Jin-Han Kang
Clin Exp Pediatr. 2020;63(7):239-250.   Published online June 18, 2020
The novel coronavirus disease 2019 (COVID-19) is spreading globally. Although its etiologic agent is discovered as severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), there are many unsolved issues in COVID-19 and other infectious diseases. The causes of different clinical phenotypes and incubation periods among individuals, species specificity, and cytokine storm with lymphopenia as well as the mechanism of damage to organ...
Neurology
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability
Ji Yoon Han, In Goo Lee
Clin Exp Pediatr. 2020;63(6):195-202.   Published online November 4, 2019
Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy- guided targeted gene...
Original Article
Cardiology
Changes of Bax, Bcl-2, CCR-2, MCP-1, and TGF-β1 genes in the left ventricle of spontaneously hypertensive rat after losartan treatment
Hyeryon Lee, Kwan Chang Kim, Young Mi Hong
Clin Exp Pediatr. 2019;62(3):95-101.   Published online October 24, 2018

Purpose: Increased apoptosis was recently found in the hypertrophied left ventricle of spontaneously hypertensive rats (SHRs). Although the available evidence suggests that apoptosis can be induced in cardiac cells by various insults including pressure overload, cardiac apoptosis appears to result from an exaggerated local production of angiotensin in adult SHRs. Altered expressions of Bcl associated X (Bax), Bcl-2, chemokine receptor...
Case Report
Genetics and Metabolism
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Clin Exp Pediatr. 2018;61(12):403-406.   Published online September 16, 2018
Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set...
Review Article
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...

Original Article
Oncology
Excellent treatment outcomes in children younger than 18 months with stage 4 MYCN nonamplified neuroblastoma
Chiwoo Kim, Young Bae Choi, Ji Won Lee, Keon Hee Yoo, Ki Woong Sung, Hong Hoe Koo
Clin Exp Pediatr. 2018;61(2):53-58.   Published online February 28, 2018
Purpose

Although the prognosis is generally good in patients with intermediate-risk neuroblastoma, no consensus has been reached on the ideal treatment regimen. This study analyzed treatment outcomes and toxicities in patients younger than 18 months with stage 4 MYCN nonamplified neuroblastoma.

Methods

We retrospectively analyzed 20 patients younger than 18 months newly diagnosed with stage 4 MYCN nonamplified neuroblastoma between January 2009 and...

Endocrinology
Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature
Abdulla A. Alharthi, Ehab I. El-Hallous, Iman M. Talaat, Hamed A. Alghamdi, Matar I. Almalki, Ahmed Gaber
Clin Exp Pediatr. 2017;60(10):327-332.   Published online October 20, 2017
Purpose

Short stature affects approximately 2%–3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal...

Review Article
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...

Neurology
Malformations of cortical development: genetic mechanisms and diagnostic approach
Jeehun Lee
Clin Exp Pediatr. 2017;60(1):1-9.   Published online January 31, 2017

Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact...

Case Report
Genetics and Metabolism
A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members...

Original Article
Cardiology
The effect of sildenafil on right ventricular remodeling in a rat model of monocrotaline-induced right ventricular failure
Hyun Kyung Bae, Hyeryon Lee, Kwan Chang Kim, Young Mi Hong
Clin Exp Pediatr. 2016;59(6):262-270.   Published online June 30, 2016
Purpose

Pulmonary arterial hypertension (PAH) leads to right ventricular failure (RVF) as well as an increase in pulmonary vascular resistance. Our purpose was to study the effect of sildenafil on right ventricular remodeling in a rat model of monocrotaline (MCT)-induced RVF.

Methods

The rats were distributed randomly into 3 groups. The control (C) group, the monocrotaline (M) group (MCT 60 mg/kg) and the...

Review Article
Nephrology (Genitourinary)
Pathogenesis of minimal change nephrotic syndrome: an immunological concept
Seong Heon Kim, Se Jin Park, Kyoung Hee Han, Andreas Kronbichler, Moin A. Saleem, Jun Oh, Beom Jin Lim, Jae Il Shin
Clin Exp Pediatr. 2016;59(5):205-211.   Published online May 31, 2016

Idiopathic nephrotic syndrome (INS) in children is characterized by massive proteinuria and hypoalbuminemia. Minimal change nephrotic syndrome (MCNS) is the most common form of INS in children. The pathogenesis of MCNS still remains unclear, however, several hypotheses have been recently proposed. For several decades, MCNS has been considered a T-cell disorder, which causes the impairment of the glomerular filtration barrier...

Case Report
Oncology
Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome
Do Hee Ahn, Jung Hee Rho, Hann Tchah, In-Sang Jeon
Clin Exp Pediatr. 2016;59(1):40-42.   Published online January 22, 2016

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with...

Review Article
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...

Update of genetic susceptibility in patients with Kawasaki disease
Kyung Lim Yoon
Clin Exp Pediatr. 2015;58(3):84-88.   Published online March 20, 2015

Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects children, and can result in coronary artery lesions (CAL). A patient with KD who is resistant to treatment with intravenous immunoglobulin (IVIG) has a higher risk of developing CAL. Incomplete KD has increased in prevalence in recent years, and is another risk factor for the development of CAL. Although...

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...

Case Report
Necrotizing fasciitis and streptococcal toxic shock syndrome secondary to varicella in a healthy child
Byung Ok Kwak, Min Jung Lee, Hye Won Park, Min Kyung Song, Sochung Chung, Kyo Sun Kim
Clin Exp Pediatr. 2014;57(12):538-541.   Published online December 31, 2014

Varicella is usually considered to be a benign disease in healthy children; however, serious complications can occur such as necrotizing fasciitis and toxic shock syndrome. We describe a 38-month-old girl with necrotizing fasciitis and streptococcal toxic shock syndrome following varicella. She was previously healthy and vaccinated against varicella at 12 months of age. She had been diagnosed with varicella three...

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2014;57(9):416-419.   Published online September 30, 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0...

Original Article
Neurofibromatosis type 1: a single center's experience in Korea
Min Jeong Kim, Chong Kun Cheon
Clin Exp Pediatr. 2014;57(9):410-415.   Published online September 30, 2014
Purpose

Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1.

Methods

A total of 42 patients, 14 females and 28 males, were enrolled...

Case Report
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Clin Exp Pediatr. 2014;57(5):240-244.   Published online May 31, 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly...

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

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...

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,...

Case Report
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Clin Exp Pediatr. 2013;56(8):355-358.   Published online August 27, 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few...

Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(8):351-354.   Published online August 27, 2013

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such...

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