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Review Article
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
Inferior vena cava to aorta ratio in dehydrated pediatric patients: a systematic review and meta-analysis
Gilbert Sterling Octavius, Michelle Imanuelly, Johan Wibowo, Nadia Khoirunnisa Heryadi, Melanie Widjaja
Clin Exp Pediatr. 2023;66(11):477-484.   Published online June 14, 2023
Question: The inferior vena cava to aorta (IVC/Ao) ratio measured via ultrasound has been touted as a promising noninvasive technique to assess clinically significant dehydration in pediatric patients.
Finding: Our meta-analysis found that IVC/Ao ratio had a positive likelihood ratio of 3.2 (95% confidence interval [CI], 2.1–5.1) and negative likelihood ratio of 0.18 (95% CI, 0.12–0.28).
Meaning: Hence, IVC/Ao ratio is insufficient to exclude or confirm significant dehydration in pediatric patients.
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
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.
Original Article
Other
Spatial modeling of mortality from acute lower respiratory infections in children under 5 years of age in 2000–2017: a global study
Ali Almasi, Sohyla Reshadat, Alireza Zangeneh, Mehdi Khezeli, Raziyeh Teimouri, Samira Rahimi Naderi, Shahram Saeidi
Clin Exp Pediatr. 2021;64(12):632-641.   Published online March 19, 2021
Question: We assessed the spatial modeling of mortality from acute lower respiratory infections in children under 5 years old during 2000–2017 using a global data.
Finding: The total number of child deaths during the study period decreased, while the number of hot spots increased among countries.
Meaning: Hot spots were concentrated in Asia in 2000 but shifted toward African countries by 2017. A cold spot formed in Europe over the study period.
Review Article
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
Adolescence Medicine
Serum alanine aminotransferase levels are closely associated with metabolic disturbances in apparently healthy young adolescents independent of obesity
Ki Eun Kim, Kyung Suk Baek, Sol Han, Jung Hyun Kim, Youn Ho Shin
Clin Exp Pediatr. 2019;62(2):48-54.   Published online November 23, 2018

Purpose: Liver metabolism plays a pivotal role in the development of metabolic disorders. We aimed to investigate the clinical and laboratory risk factors associated with alanine aminotransferase (ALT) levels in young adolescents from an urban population in Korea. Methods: A population of 120 apparently healthy adolescents aged 12–13 years was included in the cross-sectional design study; 58 were overweight or obese...
Neonatology (Perinatology)
Diagnostic value of eosinopenia and neutrophil to lymphocyte ratio on early onset neonatal sepsis
Rocky Wilar
Clin Exp Pediatr. 2019;62(6):217-223.   Published online October 8, 2018

Purpose: To determine the diagnostic value of eosinopenia and the neutrophil-to-lymphocyte ratio (NLR) in the diagnosis of early onset neonatal sepsis (EONS). Methods: This cross-sectional study was conducted in the Neonatology Ward of R.D. Kandou General Hospital Manado between July and October 2017. Samples were obtained from all neonates meeting the inclusion criteria for EONS. Data were encoded using logistic regression...
Hematology and Oncology
Lymphocyte-monocyte ratio at day 14 of first cisplatin-doxorubicin chemotherapy is associated with treatment outcome of pediatric patients with localized osteosarcoma
Jun Ah Lee, Hea Lin Oh, Dong Ho Kim, Jung Sub Lim
Clin Exp Pediatr. 2019;62(2):62-67.   Published online October 1, 2018

Purpose: We aimed to determine the prognostic significance of lymphocyte counts and the lymphocytemonocyte ratio (LMR) in pediatric patients with osteosarcoma. Methods: We retrospectively reviewed the medical records of 27 pediatric patients with localized extremity osteosarcoma, treated at the Korea Cancer Center Hospital between May 2002 and March 2016. Leukocyte counts and LMR before treatment and on day 14 (LMR14) of...
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
Gastroenterology
Esophageal perforation in children: etiology and management, with special reference to endoscopic esophageal perforation
Krishna Kumar Govindarajan
Clin Exp Pediatr. 2018;61(6):175-179.   Published online June 25, 2018

Perforation of the esophagus is an uncommon problem with significant morbidity and mortality. In children undergoing endoscopy, the risk of perforation is higher when interventional endoscopy is performed. The clinical features depend upon the site of esophageal perforation. Opinions vary regarding the optimal treatment protocol, and the role of conservative management in this context is not well established. Esophageal perforation...

Original Article
Neonatology (Perinatology)
Augmentation of respiratory muscle activities in preterm infants with feeding desaturation
Dong Rak Kwon, Gi Young Park, Ji Eun Jeong, Woo Taek Kim, Eun Joo Lee
Clin Exp Pediatr. 2018;61(3):78-83.   Published online March 19, 2018
Purpose

Frequent desaturation due to immature incoordination of suck-swallow-breathing in preterm infants can influence multiple organs such as the heart, lungs, and brain, which can then affect growth and development. Most notably in preterm infants, feeding desaturation may even affect pulmonary function during gavage feeding. Because respiratory muscle activities may reflect the work required during respiration, we evaluated the differences in...

Nephrology (Genitourinary)
Usefulness of neutrophil-lymphocyte ratio in young children with febrile urinary tract infection
Song Yi Han, I Re Lee, Se Jin Park, Ji Hong Kim, Jae Il Shin
Clin Exp Pediatr. 2016;59(3):139-144.   Published online March 31, 2016
Purpose

Acute pyelonephritis (APN) is a serious bacterial infection that can cause renal scarring in children. Early identification of APN is critical to improve treatment outcomes. The neutrophil-lymphocyte ratio (NLR) is a prognostic marker of many diseases, but it has not yet been established in urinary tract infection (UTI). The aim of this study was to determine whether NLR is a...

Case Report
Inhaled iloprost for the treatment of patient with Fontan circulation
Yong Hyun Kim, Moon Hee Chae, Deok Young Choi
Clin Exp Pediatr. 2014;57(10):461-463.   Published online October 31, 2014

Decreased exercise capacity after Fontan surgery is relatively common and the failure of the Fontan state gradually increases with age. However, there is no further treatment for patients with Fontan circulation. Pulmonary vasodilation therapy is an effective method to solve this problem because pulmonary vascular resistance is a major factor of the Fontan problem. Inhaled iloprost is a chemically stable...

Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome
Hye Jin Chang, Hwa Young Kim, Jae Hong Choi, Hyun Jin Choi, Jae Sung Ko, Il Soo Ha, Hae Il Cheong, Yong Choi, Hee Gyung Kang
Clin Exp Pediatr. 2014;57(2):96-99.   Published online February 24, 2014

Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who undergo chronic renal replacement therapy. Escherichia coli serotype O157:H7 is the predominant bacterial strain identified in patients with HUS; more than 100 types of Shiga toxin-producing enterohemorrhagic E. coli (EHEC) subtypes have...

Stroke after percutaneous transhepatic variceal obliteration of esophageal varix in Caroli syndrome
Yoo Min Lee, Yoon Lee, Yon Ho Choe
Clin Exp Pediatr. 2013;56(11):500-504.   Published online November 27, 2013

Here we present the case of an 11-year-old female patient diagnosed with Caroli syndrome, who had refractory esophageal varices. The patient had a history of recurrent bleeding from esophageal varices, which was treated with endoscopic variceal ligation thrice over a period of 2 years. However, the bleeding was not controlled. When the patient finally visited the Emergency Department, the hemoglobin...

An unusual cause of duodenal perforation due to a lollipop stick
Mi Jin Kim, Jeong Meen Seo, Yoon Lee, Yoo Min Lee, Yon Ho Choe
Clin Exp Pediatr. 2013;56(4):182-185.   Published online April 22, 2013

Children have a natural tendency to explore objects with their mouths; this can result in the swallowing of foreign objects. Most ingested foreign bodies pass uneventfully through the gastrointestinal tract. However, some foreign bodies cause obstruction or perforation of the gastrointestinal tract, requiring surgical intervention. Perforation of the gastrointestinal tract may be associated with considerable morbidity and mortality. The most...

Original Article
Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty
Doosoo Kim, Sung-Yoon Cho, Se-Hyun Maeng, Eun Sang Yi, Yu Jin Jung, Sung Won Park, Young Bae Sohn, Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(12):481-486.   Published online December 20, 2012
Purpose

Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for precocious puberty and to compare the constitutional and endocrinological features among diagnosis groups.

Methods

The present study used a retrospective chart review of 988 Korean girls who had visited a pediatric endocrinology clinic from...

Clinical features and surgical outcomes of complete transposition of the great arteries
Suk Jin Hong, Hee Joung Choi, Yeo Hyang Kim, Myung Chul Hyun, Sang Bum Lee, Joon Yong Cho
Clin Exp Pediatr. 2012;55(10):377-382.   Published online October 29, 2012
Purpose

This single-center study aimed to assess the clinical features and surgical approaches and outcomes of complete transposition of the great arteries (TGA).

Methods

TGA patients who had undergone surgical correction at the Kyungpook National University Hospital from January 2000 to December 2010, were retrospectively evaluated for patient characteristics, clinical manifestation, preoperative management, intraoperative findings, postoperative progress, and follow-up status.

Results

Twenty-eight patients (17 boys...

Correlation between glomerular filtration rate and urinary N acetyl-beta-D glucosaminidase in children with persistent proteinuria in chronic glomerular disease
Jeong Deok Hong, In Seok Lim
Clin Exp Pediatr. 2012;55(4):136-142.   Published online April 30, 2012
Purpose

Urinary excretion of N acetyl-beta-D glucosaminidase (NAG) and β2-microglobulin (β2-M) was increased in the presence of proximal tubular damage. Based on these urinary materials, we investigated the ability of expecting renal function in chronic glomerular diseases. In this study, we evaluated the relationship between glomerular filtration rate (GFR) urinary NAG, and urinary β2-M.

Methods

We evaluated 52 children with chronic kidney disease...

Review Article
Optimal oxygen saturation in premature infants
Meayoung Chang
Clin Exp Pediatr. 2011;54(9):359-362.   Published online September 30, 2011

There is a delicate balance between too little and too much supplemental oxygen exposure in premature infants. Since underuse and overuse of supplemental oxygen can harm premature infants, oxygen saturation levels must be monitored and kept at less than 95% to prevent reactive oxygen species-related diseases, such as retinopathy of prematurity and bronchopulmonary dysplasia. At the same time, desaturation below...

Original Article
Needle aspiration as therapeutic management for suppurative cervical lymphadenitis in children
Mee Young Baek, Kyung Hee Park, Ju Hee We, Su Eun Park
Clin Exp Pediatr. 2010;53(8):801-804.   Published online August 31, 2010
Purpose

This study aimed to evaluate the usefulness of the needle aspiration alternative to open surgical drainage of children with suppurative cervical lymphadenitis requiring surgical drainage.

Methods

From January 1998 to June 2008, we retrospectively reviewed 38 children treated with needle aspiration as management with suppurative cervical lymphadenitis instead of open surgical drainage.

Results

All 38 children underwent only 1 puncture. Two patients (5.2%) out...

Case Report
Perianastomotic ulceration presenting with long-term iron deficiency anemia and growth failure: A case report and review of the literature
Kyung Ji Kang, Eun Ha Kim, Eun Young Jung, Woo-Hyun Park, Yu-Na Kang, Ae Suk Kim, Jin-Bok Hwang
Clin Exp Pediatr. 2010;53(1):89-92.   Published online January 15, 2010
Perianastomotic ulceration (PAU) rarely occurs after small bowel resection in infancy. Since the understanding of its pathogenesis is incomplete, an effective method of treatment has not yet been discovered. We report the first case in Korea of a 10-year-old girl with chronic iron deficiency anemia (IDA) and growth failure who was diagnosed with PAU at colonoscopy. Seven years were required...
Original Article
Clinical experience of therapeutic effect of peritoneal drainage on intestinal perforation in preterm infants
Jun Seok Lee, Kyo Yeon Koo, Soon Min Lee, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee, Seung Hoon Choi
Clin Exp Pediatr. 2009;52(11):1216-1220.   Published online November 15, 2009
Purpose : To analyze and compare various cases in which peritoneal drainage was used as the primary treatment method in preterm infants with intestinal perforation. Methods : Among the preterm infants of less than 28 weeks of gestation who were admitted to the neonatal intensive care unit (NICU) at the Gangnam Severance Hospital from April 2006 to April 2009, 7 who...
Comparison of various methods of glomerular filtration rate measurements in children
Na Mi Lee, In Seok Lim
Clin Exp Pediatr. 2009;52(9):999-1004.   Published online September 15, 2009

Purpose:Glomerular filtration rate (GFR) is a fundamental parameter in assessing renal function and predicting the progression of chronic renal disease. Because the use of serum creatinine has several disadvantages, many studies have investigated the use of cystatin C for estimating GFR. We compared creatinine clearance and GFR with formulas using serum creatinine and cystatin C. Methods:We retrospectively analyzed 211 patients...
Effect of renin inhibition on an experimental glomerulonephritis - a preliminary report
Ju Hyung Kang, Jae Kyung Huh, Young Sook Lee, Ji Young Han, Il Soo Ha
Clin Exp Pediatr. 2009;52(8):938-943.   Published online August 15, 2009

Purpose:We performed this study in order to investigate the effect of direct renin inhibition on an experimental animal model with nephrotoxic serum nephritis and tried to give useful information for clinical research and renin inhibitor treatment. Methods:Thirty BALB/c 6-week-old male mice were divided into 4 groups: control group (CO, n=5), control-treatment group with aliskiren (CT, n=5), disease group (DO, n=10), and disease treatment...
Clinical findings of severe amniotic fluid aspiration pneumonia and effects of surfactant replacement therapy
Sang Woo Park, Chun-Soo Kim, Sang-Lak Lee, Tae-Chan Kwon
Clin Exp Pediatr. 2009;52(4):429-434.   Published online April 15, 2009
Purpose : Severe aspiration of the amniotic fluid is known to cause fatal respiratory distress in neonates. We conducted this study to investigate the clinical findings of severe amniotic fluid aspiration pneumonia (AFAP) in neonates and the effect of pulmonary surfactant replacement therapy (SRT). Methods : Retrospective analysis of medical records was conducted on 28 patients who received ventilator care...
Review Article
Child raising and education of marriage-based immigrants in Korea: On the focus of infants
Dong-Hoon Seol
Clin Exp Pediatr. 2009;52(4):403-409.   Published online April 15, 2009
Due to recent upsurge in international marriages, the socio-cultural adaptation, the reinforcement of family stability, and the social integration support of marriage-based immigrant family have been the major social issues. This paper tries to show the current status of marriage-based immigrants and their children nation-wide. Specifically, it analyzes the statistical trends in international marriages, traits of marriage-based immigrants and their...
Original Article
Gastrointestinal surgery in very low birth weight infants : Clinical characteristics
Ji Eun Kim, Hye Soo Yoo, Hea Eun Kim, Soo Kyoung Park, Yoo Jin Jeong, Seo Heui Choi,, Hyun Joo Seo, Yun Sil Chang, Jeong Meen Seo, Won Soon Park, Suk Koo Lee
Clin Exp Pediatr. 2009;52(3):295-302.   Published online March 15, 2009
Purpose : To report our experience of gastrointestinal (GI) operations (OP) performed in very low birth weight infants (VLBWI) and to evaluate their clinical characteristics. Methods : Among the 1,117 VLBWI admitted to the SMC neonatal intensive care unit from November 1994 to February 2007, the medical records of 37 infants who underwent GI OP (except inguinal hernia OP) and 1,080...
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