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· The mortality rate of acute necrotizing encephalopathy was high. · Laboratory tests revealed that the fatal group had higher creatinine, lactate, activated partial thromboplastin time, thrombin time, interleukin (IL)-6, IL-10, creatine kinase, and D-dimer than survivors. · The fatal group displayed lower Glasgow Coma Scale scores and arterial pH. |
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· 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. |
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· Vitamin D may affect asthma via multiple mechanisms, including lung and optimal immune system functions. · Many clinical trials have demonstrated the beneficial effects of vitamin D on asthma onset and aggravation. However, definitive clinical trials are lacking, and reports have detailed contradictory effects of vitamin D in children with asthma. · Some exciting reports stated that obesity and vitamin D deficiency are associated with increased asthma symptoms in the pediatric population. |
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The number of studies on ferritin predictive ability in pediatric critical illness has grown exponentially over the past 2 decades. However, among the 66 of 1,580 studies analyzed here, summary statistics for overall and condition-specific studies were only reported in 45.4% and 71.2%, respectively. In contrast, ferritin as a categorical variable with a preset threshold was a significant predictor in 84.6% of studies. |
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Question: What are the clinical spectrum, course, and short-term outcomes of multisystem inflammatory syndrome in children (MIS-C)? Finding: MIS-C can have variable clinical manifestations. Fever is most common, followed by gastrointestinal and cardiovascular symptoms. Early identification and appropriate management lead to favorable outcomes. Meaning: MIS-C can present in a myriad of ways and severities. High suspicion is necessary to ensure its early identification and appropriate management and favorable patient outcomes. |
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Question: What are the prevalence and clinical characteristics of celiac disease (CD) in children in Bahrain? Finding: We found a significant increase in CD prevalence over the last decade (P=0.0001). A male predominance was noted. Atypical presentations were common. Most patients had poor adherence to a gluten-free diet. Meaning: CD is an underdiagnosed condition. Atypical symptoms should be considered to prevent missing patients with CD. |
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Question: Does subclinical hypothyroidism in obese children and adolescents affect metabolic parameters? Finding: Insulin, HOMA-IR, and TG levels were higher and the HDL-C level was lower in patients with SH. Meaning: A clear association is observed between SH, and insulin resistance and dyslipidemia in obese children. It can be said that the TSH may be evaluated as a metabolic risk factor in obese patients. |
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Purpose: In this study, we investigated the clinical features and prognostic factors of early-onset sepsis (EOS) in neonatal intensive care unit (NICU) patients. Methods: A retrospective analysis was conducted on medical records from January 2010 to June 2017 (7.5 years) of a university hospital NICU. Results: There were 45 cases of EOS (1.2%) in 3,862 infants. The most common pathogen responsible for... |
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Despite the availability of molecular methods, identification of the causative virus in children with acute respiratory infections (ARIs) has proven difficult as the same viruses are often detected in asymptomatic children. Multiplex reverse transcription polymerase chain reaction assays were performed to detect 15 common respiratory viruses in children under 15 years of age who were hospitalized with ARI between January 2013... |
The widespread introduction of bacterial conjugate vaccines has decreased the risk of cerebrospinal fluid (CSF) pleocytosis due to bacterial meningitis (BM) in children. However, most patients with CSF pleocytosis are hospitalized and treated with parenteral antibiotics for several days. The bacterial meningitis score (BMS) is a validated multivariate model derived from a pediatric population in the postconjugate vaccine era and... |
Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an A total of 42 patients, 14 females and 28 males, were enrolled... |
Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment. The clinical characteristics and the results... |
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... |
Noninferiority trials test whether a new experimental treatment is not unacceptably less efficacious than an active control treatment already in use. With continuous improvements in health technologies, standard care, and clinical outcomes, the incremental benefits of newly developed treatments may be only marginal over existing treatments. Sometimes assigning patients to a placebo is unethical. In such circumstances, there has been... |
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... |
Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing.... |
Neonatal seizures are generally not only brief and subtle but also not easily recognized and are usually untreated. In sick neonates, seizures are frequently not manifested clinically but are detected only by electroencephalography (subclinical EEG seizures). This phenomenon of electroclinical dissociation is fairly common in neonates. On the other hand, neonates frequently show clinical behaviors such as stiffening, apnea, or... |
Purpose : We aimed to evaluate the frequency and characteristics of minor clinical manifestations of atopic dermatitis (AD) in Korean children to aid the diagnosis and treatment of AD. Methods : From April 2007 to December 2007, we enrolled 106 children (aged 1 month [infants] to 15 years) diagnosed with AD at the Pediatric Allergy Respiratory Center in Soonchunhyang University Hospital.... |
Purpose : To identify the short-term clinical outcomes of late preterm infants and to test the hypothesis that late preterm infants have more clinical problems during the early postnatal period than term infants. Methods : One hundred late preterm infants [gestational age (GA) 34+0-36+6 weeks] and the same number of term infants (GA 37+0-41+6 weeks) were randomly selected from 289 late... |
Purpose : Febrile convulsions are classified into simple or complex types, the latter being characterized by increased risk of recurrence and progression to epilepsy. This study aimed to delineate the clinical characteristics of complex febrile convulsions. Methods : Between January 2003 and December 2006, 550 children were diagnosed with febrile convulsions at the Department of Pediatrics, Ilsan Paik Hospital. Their... |
Purpose : Congenital chylothorax is an accumulation of lymphatic fluid within the pleural space. It is a common cause of unidentified hydrops fetalis. We examined the perinatal history, clinical manifestation, diagnosis, treatment, and outcome in 6 newborns diagnosed to have congenital chylothorax with hydrops fetalis. We also studied the effect of octreotide therapy for congenital chylothorax in relation to conservative... |
We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the... |
Purpose : The serum levels of total insulin-like growth factor (IGF)-I and IGF binding protein (IGFBP)- 3 reflect endogenous growth hormone (GH) secretion in healthy children. Free form of IGF-I which is suggested to have more potent biological action than complex form of IGF-I. The aim of this study is to investigate the serum levels of free IGF-I and its... |
The cure rate of acute lymphoblastic leukemia (ALL) in children dramatically improved over past 5 decades from zero to about 80%. The main cause of improvement is owing to the development of chemotherapy by multicenter clinical trial of large study groups with the understanding of leukemia biology. Recently, pediatric ALL protocols were applied to the treatment of adolescent and even... |
Purpose : We hypothesized that the persisting bronchial hyperresponsiveness (BHR) of adolescents with asthma remission may be controlled mainly by genetic factors, and the BHR of symptomatic asthma by airway inflammation. β2-adrenoceptor gene is considered to be a candidate gene in the development of BHR. Thus, β2-adrenoceptor gene polymorphism may be associated with the BHR of adolescents with asthma remission,... |
In the United States, The concept of designation for hospital facilities that care for newborn infants according to the level of complexity of care provided was first proposed in 1976. The extent of perinatal health care regionalization varies widely from one area to the other. facilities that provide hospital care for newborn are classified into three categories on the basis... |
Purpose : The importance of staphylococcal infections in NICU has been emphasized in terms of increased resistant strains and increased incidence of morbidity and mortality. In this study, we inrestignted the clinical characteristics and risk factors for staphylococcal infections, and looked into sensitivity trends of antibiotics in the era of a high rate of methicillin-resistant staphylococcus aureus (MRSA) in our... |
Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of “inborn error of metabolism” or “chemical individuality”, more than 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse... |
Purpose : To evaluate the morbidity and mortality of children with status epilepticus(SE) as an initial seizure and to compare these according to age groups. Methods : The 78 cases(38 cases <2 years and 38 cases ≥2 years) with SE as an initial seizure admitted to the Chonnam national university hospital from Jan. 2000 to Jan. 2004 were reviewed. Developmental profiles,... |
Non-traumatic acute abdominal pain in children presents a diagnostic dilemma. Numerous disorders can cause abdominal pain. Although many etiologies are benign, some require a rapid diagnosis and treatment in order to minimize morbidity. This review concentrates on the clinical office evaluation of acute abdominal pain in infants and children and details the clinical guideline for the diagnostic approach to imaging... |
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