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Original Article
Discordance between antibiotic therapy and recurrent urinary tract infections in young children with thirdgeneration cephalosporin-resistant infections
Yusin Kim, Hyun A Lee, Gil Lee, Kyungseok Park, Ye Kyung Kim, Peong Gang Park
Background: Third-generation cephalosporins remain the empirical mainstay for pediatric urinary tract infections (UTIs) in Korea, yet the resistance rate now approaches 30%, thereby threatening treatment effectiveness.
Purpose: To determine whether completing a cephalosporin regimen, despite in vitro resistance, increases early UTI recurrence rates. Methods: We retrospectively reviewed the cases of children aged <24 months with their first Gram-negative UTI admitted in...
Review Article
Oncology
Breaking the barrier: a guidelines-based review of antiangiogenesis drug resistance in pediatric cancer therapy
Nader Shakibazad, Mahdi Shahriari, Mani Ramzi
Clin Exp Pediatr. 2025;68(12):952-962.   Published online November 24, 2025
Antiangiogenic therapy resistance in pediatric cancers involves alternative angiogenic pathways, microenvironmental support, hypoxia-driven signaling, metabolic reprogramming, and structural adaptations such as vascular co-option. Metabolic adaptation highlights tumor plasticity. Effective treatments combine immunotherapy with biomarkers. To address vascular endothelial growth factor limitations, emerging targets include hypoxia-inducible factor-2α, endoglin, CXCR4, angiopoietin/Tie2, and bispecific antibodies. In resource-constrained settings, the guidelines recommend low-dose chemotherapy plus oral multiantiangiogenic agents to ensure improved accessibility and treatment outcomes.
General Pediatrics
Impact of screen exposure during pediatric ages including multifaceted aggravating factors: a literature review
Daniel González-Pérez, David Sebastián Huertas-Moreno, Manuela Granados-Pinilla, Sofía Hernandez-Rojas, Laura González-Rincon, Geraldine Hurtado-Garcia, Simón Grisales-Calle, María José González-Mariño, Luz Dary Gutierrez-Castañeda, Jhon Camacho-Cruz
Clin Exp Pediatr. 2025;68(10):751-760.   Published online September 24, 2025
Excessive screen time in children is linked to obesity, overweight, sedentary behavior, depression and mood disorders, myopia, behavioral changes, sleep disturbances, attention deficit hyperactivity disorder, among others. Polymorphisms in genes like FTO, CACNA1D, and DRD2 could further increase these risks. Implementing strategies such as limiting screen use, creating screen-free zones, and monitoring content is essential to mitigate adverse physical and mental health effects in the pediatric population.
Original Article
Infection
Evolving treatment strategies for invasive Streptococcus pyogenes in children in the postpandemic era
Laura Buricchi, Giuseppe Indolfi, Marco Renni, Elisabetta Venturini, Luisa Galli, Elena Chiappini
Clin Exp Pediatr. 2025;68(11):921-931.   Published online August 11, 2025
Question: What are the roles of linezolid, intravenous immunoglobulin (IVIG), and corticosteroids in pediatric invasive group A streptococcal infection (iGAS)? Can any improve outcomes beyond beta-lactams and clindamycin?
Finding: Two of 46 patients with iGAS died. Nearly all received beta-lactams plus clindamycin. Linezolid was effective in refractory cases. IVIG and corticosteroids had variable efficacies.
Meaning: Linezolid may be valuable in refractory cases. IVIG may be considered in severe presentations. The role of corticosteroids remains less clearly defined.
Oncology
Allogeneic stem-cell transplantation following chimeric antigen receptor T-cell therapy for treatment of relapsed/refractory hematologic malignancy in children and young adults: a systematic review and meta-analysis
Ghea Mangkuliguna, Edi Setiawan Tehuteru, Reganedgary Jonlean, Nicholas Adrianto, Stella Kallista
Clin Exp Pediatr. 2025;68(9):712-721.   Published online July 4, 2025
Question: Does consolidative allogeneic stem cell transplantation (allo-SCT) after chimeric antigen receptor (CAR) T-cell therapy improve outcomes of children and young adult patients with relapsed/refractory hematologic malignancies?
Finding: The meta-analysis showed reduced relapse rates and favorable survival trends with allo-SCT despite low evidence quality.
Meaning: Consolidative allo-SCT after CAR T-cell therapy may enhance survival; however, further clinical studies are needed.
Gastroenterology
Adenosine deaminase and interleukin-1 receptor antagonist genetic polymorphisms among obese children with versus without metabolic dysfunction-associated fatty liver disease
Hala M. Sakhr, Mohammed H. Hassan, Azza Mohamed Taha, Ali Helmi Bakri
Clin Exp Pediatr. 2025;68(10):808-818.   Published online May 29, 2025
Question: Is there an association between adenosine deaminase (ADA) G22A and interleukin-1 receptor antagonist (IL-1RN) genetic polymorphisms and pediatric metabolic dysfunction-associated fatty liver disease (MAFLD)?
Finding: The GG genotype and G allele of ADA G22A were significantly associated with obesity but not pediatric MAFLD, while the *1/*2 genotype of the IL-1RN gene was significantly associated with obesity and pediatric MAFLD.
Meaning: The IL-1RN gene may contribute to pediatric MAFLD.
Neurology
Establishing an induced pluripotent stem cell bank using urine cells from pediatric patients with neurogenetic diseases
Hien Bao Dieu Thai, WonWoo Jung, Sol Choi, Woo Joong Kim, JangSup Moon, ByungChan Lim
Clin Exp Pediatr. 2025;68(8):569-577.   Published online April 1, 2025
Question: What can be used to create a reliable supply of somatic cells for induced pluripotent stem cells (iPSCs) generation and standardize procedures for building an iPSC bank for researching pediatric neurogenetic disorders?
Findings: Noninvasively acquired urine cells are a desirable cell source for iPSC reprogramming.
Meaning: An iPSC bank can be created from diverse patient cell sources and offer a useful resource for translating research results into clinical therapy for pediatric neurogenetic disorders.
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.
Review Article
Other
Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature
Koral M. Blunt, Monirah Albathi, Miriam Conces, Tendy Chiang
Clin Exp Pediatr. 2025;68(6):428-433.   Published online January 13, 2025
In this report, we describe our experience with a patient with an APC-related genetic syndrome who presented with a rare palatal lesion with characteristics of a schwannoma. We discuss the role of immunohistochemical staining in discerning the differential diagnosis.
Gastroenterology
Anxiety disorders presenting as gastrointestinal symptoms in children – a scoping review
Anjali Kumar, Pramodh Vallabhaneni
Clin Exp Pediatr. 2025;68(5):344-351.   Published online January 13, 2025
A positive bidirectional relationship between gastrointestinal disorders and anxiety, but with no clear aetiology, was identified. Factors such as somatisation and pain catastrophising resulted in poorer pain-related outcomes in children. Further studies are required to understand this relationship in order to have targeted treatments and ensure better long term outcomes.
Endocrinology
Lifelong medical challenges and immunogenetics of Turner syndrome
Won Kyoung Cho
Clin Exp Pediatr. 2024;67(11):560-568.   Published online July 31, 2024
· This summary emphasizes the importance of the early diagnosis of Turner syndrome (TS) and presents a multidisciplinary approach to its prevention and management, high-lighting the need for customized care.
· Advancements in immunogenetic research may improve our understanding of TS and improve its outcomes.
· TS encompasses a wide array of medical challenges, including cardiovascular, endocrine, autoimmune, and mental health issues, as well as a heightened cancer risk.
Original Article
Genetics and Metabolism
Interleukin (IL)-1B and IL-1 receptor antagonist gene polymorphisms in children with primary immune thrombocytopenia
Seham Mohamed Ragab, Wafaa Moustafa Abo ElFotoh, Mahmoud Ahmed El-Hawy, Eman Abdelfatah Badr, Saara Khairat Ali Mostafa, Mai El-Sayad Abd El-Hamid
Clin Exp Pediatr. 2024;67(9):465-473.   Published online July 24, 2024
· Polymorphisms in interleukin (IL)-1B and IL-1 receptor (IL-1R) antagonists may significantly affect the pathogenesis of immune thrombocytopenia (ITP).
· IL-1B and IL-1R antagonist gene polymorphisms are correlated with severity and susceptibility to primary ITP in children.
Review Article
Developmental and Behavioral Medicine
Comprehensive evaluation of the child with global developmental delays or intellectual disability
Abdullah Nasser Aldosari, T. Saeed Aldosari
Clin Exp Pediatr. 2024;67(9):435-446.   Published online May 29, 2024
· A detailed history and comprehensive physical examination remain the cornerstones for establishing a diagnosis of global developmental delay/intellectual disability (GDD/ID).
· Comprehensive surveillance and screening programs play a significant role in the early detection of GDD.
· Whole-exome sequencing is highly recommended as first- or second-line testing for individuals with idiopathic GDD/ID.
· Early intervention by a well-versed multidisciplinary team can significantly improve the outcomes and prognosis of GDD/ID.
Genetics and Metabolism
Development of orphan drugs for rare diseases
Han-Wook Yoo
Clin Exp Pediatr. 2024;67(7):315-327.   Published online June 28, 2023
· Orphan disease is a rare disease, primarily affecting newborn and children. Vast majority of orphan diseases has genetic background.
· Orphan disease is individually rare. But as a whole, it is not rare, becoming a great socioeconomic burden.
· The diagnosis of rare genetic disease has been problematic, but recent progress of genome analysis technologies makes it faster and more precise.
· There are many unmet needs as to the curative treatment. However, the number of treatable rare diseases is growingly increasing owing to the development of biotechnology.
· Most orphan drugs are extremely expensive because of numer ous hurdles during the process of drug development as well as small number of patients.
Endocrinology
Applications of genomic research in pediatric endocrine diseases
Ja Hye Kim, Jin-Ho Choi
Clin Exp Pediatr. 2023;66(12):520-530.   Published online June 14, 2023
· Recent advances in molecular genetics have improved our understanding of pediatric endocrine disorders and are now used in mainstream medical practice.
· Genome-wide association studies can increase our understanding of the biological mechanisms of disease and inform new therapeutic options.
· The identification of founder mutations leads to the efficient localization of the genes underlying Mendelian disorders.
· Next-generation sequencing technologies benefit clinical practice and research of pediatric endocrinology.
Original Article
Gastroenterology
Relationship between nonalcoholic fatty liver disease and hyperandrogenemia in adolescents with polycystic ovary syndrome
Ozlem Kara, Hanife Aysegul Arsoy, Murat Keskin
Clin Exp Pediatr. 2023;66(9):395-402.   Published online June 14, 2023
Question: Is polycystic ovary syndrome (PCOS) a risk factor for nonalcoholic fatty liver disease (NAFLD) in adolescents?
Finding: The frequency of NAFLD did not increase in adolescents with PCOS. However, hyperandrogenemia was a risk factor for NAFLD.
Meaning: Adolescents with PCOS and hyperandrogenemia should be closely monitored for hepatic steatosis.
Review Article
Developmental and Behavioral Medicine
Spontaneous movements as prognostic tool of neurodevelopmental outcomes in preterm infants: a narrative review
Hyun Iee Shin, Myung Woo Park, Woo Hyung Lee
Clin Exp Pediatr. 2023;66(11):458-464.   Published online May 16, 2023
· Spontaneous movements can be useful to evaluate neuronal integrity in preterm infants.
· In General Movements Assessment, continuous cramped synchronized movements and absent fidgety movements can indicate high-risk infants for cerebral palsy.
· Recent advances in machine learning techniques have led to the automated prediction of cerebral palsy based on infantile spontaneous movements.
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.
Gastroenterology
Update on eosinophilic gastrointestinal disease beyond eosinophilic esophagitis in children
Hye Ran Yang
Clin Exp Pediatr. 2023;66(6):233-239.   Published online January 3, 2023
· Eosinophilic gastrointestinal disease (EGID) is uncommon, with a prevalence of 1–30/100,000 in the general population; however, it is increasing worldwide.
· The diagnosis of EGID is based on histopathological findings of endoscopic mucosal biopsy in which tissue eosinophils are counted in each gastrointestinal tract segment of patients with chronic or recurrent gastrointestinal symptoms.
· Individualized treatment strategies, including adequate dietary and pharmacological therapy, may help improve outcomes of children with EGID.
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...

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