Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.

The artificial intelligence (AI)-based genetic diagnostic program has been applied to genome sequencing to facilitate the diagnostic process. The objective of the current study was to evaluate the experience and level of satisfaction of participants using an AI-based diagnostic program for rare pediatric genetic diseases. The patients with neurodevelopmental disorders or hearing impairments, their guardians, and their physicians from 16 tertiary general hospitals were enrolled.

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Background: The diagnostic yield of whole-exome sequencing (WES) varies from 30%-50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis of undiagnosed patients has increased the total diagnostic yield by 10-15%. Here, we performed proband-only WES of 1065 patients with NDD/ID and applied a prospective, daily reanalysis automated pipeline to patients without clinically significant variants to facilitate diagnoses.

Development of the Parental Questionnaire for Cerebral Visual Impairment in Children Younger than 72 Months.

Background And Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children.

Methods: The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton's questionnaire for older children.

Probiotic mixture reduces gut inflammation and microbial dysbiosis in children with atopic dermatitis.

Background: Recent data suggested that dysbiosis of the gut microbiome is associated with childhood allergic diseases. Oral administration of probiotic formulations may improve the severity of atopic dermatitis (AD) by restoring imbalanced gut microbiota and reducing intestinal inflammation in children.

Objectives: The aim of this study was to investigate the effects of a probiotic mixture on the clinical severity of AD, gut inflammatory markers and alterations in microbiome dysbiosis in children with AD.

Clinical outcomes of pediatric Anti-NMDA receptor encephalitis.

Objective: To investigate the clinical features and long-term outcomes of pediatric Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.

Methods: Thirty-two anti-NMDAR encephalitis patients with positive anti-NMDAR antibody test results were recruited. Clinical outcomes were evaluated using the Clinical Assessment Scale in Autoimmune Encephalitis (CASE) and the modified Rankin Scale (mRS).

Can moderate-intensity aerobic exercise ameliorate atopic dermatitis?

It has been shown that aerobic exercise improves atopic dermatitis (AD), although the mechanism is not clear. Here, we propose a hypothesis that moderate-intensity aerobic exercise improves AD in a mouse model through modulating allergic inflammation. The DNCB-treated mouse model for eczema was divided into 3 groups: (a) not subjected to aerobic exercise, (b) subjected to continuous aerobic exercise and (c) subjected to accumulated aerobic exercise.

Correlation of serum interleukin-31 with pruritus and blood eosinophil markers in children with atopic dermatitis.

Atopic dermatitis (AD) is chronic pruritic inflammatory skin disease in children. Interleukin (IL) 31 is a recently discovered cytokine associated with chronic skin inflammation and pruritus. The aims of this study were to determine whether serum IL-31 levels are increased in children with AD and to examine the relationship between IL-31 and other clinical biomarkers in AD.

Risk of low serum levels of ionized magnesium in children with febrile seizure.

Background: Suboptimal intake of magnesium become prevalent due to the modern diet of processed food low in magnesium. Magnesium may modulate seizure activity by antagonizing excitatory calcium influx through the N-methyl-D-aspartate receptor. Although hyponatremia has been reported to be common in febrile seizures, the most common form of seizure, little is known about the status of serum ionized magnesium.

Prevalence, Incidence, and Recurrence of Febrile Seizures in Korean Children Based on National Registry Data.

Background And Purpose: Febrile seizures (FS) are the most common type of seizure during childhood, reportedly occurring in 2-5% of children aged 6 months to 5 years. However, there are no national data on the prevalence of FS in Korea. This study determined the prevalence, incidence, and recurrence rates of FS in Korean children using national registry data.

Association Between Sensitization to Mold and Impaired Pulmonary Function in Children With Asthma.

Purpose: Recent data indicate that sensitization to mold contributes to the severity and persistence of asthma. In this study, we investigated the relationships between sensitization to mold and lung function parameters in children with asthma.

Methods: We retrospectively reviewed clinical data from 551 asthmatic subjects.

Neuroprotective Effect of Lacosamide on Hypoxic-Ischemic Brain Injury in Neonatal Rats.

Background And Purpose: Lacosamide (LCM) is an antiepileptic drug that enhances the slow inactivation of sodium channels and modulates collapsin response mediator protein-2. LCM was recently demonstrated to exert a neuroprotective effect in a murine model of traumatic brain injury and status epilepticus. Assuming the same underlying excitotoxicity-related brain injury mechanism, we hypothesized that LCM would have a neuroprotective effect in hypoxic-ischemic brain injury.

Ictal sinus pause and myoclonic seizure in a child.

Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy.

Chromosome 11q13 deletion syndrome.

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the gene on chromosome 11q13.

Application of genetically engineered Salmonella typhimurium for interferon-gamma-induced therapy against melanoma.

Salmonella have been experimentally used as anti-cancer agents, because they show selective growth in tumours. In this study, we genetically modified attenuated Salmonella typhimurium to express and secrete interferon-gamma (IFN-γ) as a tumouricidal agent to enhance the therapeutic efficacy of Salmonella. IFN-γ was fused to the N-terminal region (residues 1-160) of SipB (SipB160) for secretion from bacterial cells.

Norovirus in benign convulsions with mild gastroenteritis.

Background: Benign convulsions with gastroenteritis (CwG) are defined as afebrile convulsions accompanying symptoms of gastroenteritis without evidence of laboratory derangement. Although the main pathogen has been known as rotavirus, since the introduction of rotavirus vaccine, associated viruses with CwG may have changed. Thus, we evaluated the viral association of CwG for patients admitting for recent 2.

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

Introduction: Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene.

Methods: We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing.

Results: Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified.

Need for Lumbar Puncture in Children Younger Than 12 Months Presenting With Simple Febrile Seizure.

Objectives: Recently, conflicting results have been reported regarding the necessity of routine lumbar puncture in children less than 12 months of age with simple febrile seizure. The aims of this study were to evaluate the results of lumbar puncture in children younger than 60 months of age with febrile seizure and to reassess the need for lumbar puncture in children younger than 12 months with simple febrile seizure.

Methods: A retrospective chart review was performed in patients younger than 60 months who presented with febrile seizure and underwent lumbar puncture from January 2005 to January 2015.

Epilepsy in children with a history of febrile seizures.

Purpose: Febrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict epilepsy in children with febrile seizures.

Methods: The study comprised 249 children at the Korea University Ansan Hospital who presented with febrile seizures.

Factors Predicting Poor Response to Initial Therapy in Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS).

Background And Purpose: Benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common pediatric focal epilepsy syndrome and typically has positive clinical outcomes. However, a few patients experience recurrent seizures, and therefore, require treatment with antiepileptic drugs (AEDs). This study aimed to identify risk factors associated with poor response to initial AED therapy in BCECTS patients.

Analysis of clinical information and reverse transcriptase-polymerase chain reaction for early diagnosis of enteroviral meningitis.

Purpose: Meningitis is among the most common infections affecting the central nervous system. It can be difficult to determine the exact pathogen responsible for the infection and patients are often treated with empiric antibiotics. This study was conducted to identify the most common clinical characteristics of enteroviral meningitis in children and evaluate the diagnostic efficacy of reverse transcriptase-polymerase chain reaction (RT-PCR) for early detection of an enterovirus.

Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy.

Background And Purpose: Childhood absence epilepsy (CAE) is one of the most common types of pediatric epilepsy. It is generally treated with ethosuximide (ESM), valproic acid (VPA), or lamotrigine (LTG), but the efficacy and adverse effects of these drugs remain controversial. This study compared initial therapy treatment outcomes, including VPA-LTG combination, and assessed clinical factors that may predict treatment response and prognosis.

Cognitive Dysfunction and Hippocampal Damage Induced by Hypoxic-Ischemic Brain Injury and Prolonged Febrile Convulsions in Immature Rats.

Objective: Perinatal hypoxic-ischemic encephalopathy (HIE) and prolonged febrile seizures (pFS) are common neurologic problems that occur during childhood. However, there is insufficient evidence from experimental studies to conclude that pFS directly induces hippocampal injury. We studied cognitive function and histological changes in a rat model and investigated which among pFS, HIE, or a dual pathologic effect is most detrimental to the health of children.

Parents' Subjective Assessment of Effects of Antiepileptic Drug Discontinuation.

Background And Purpose: Many parents express worries about potential negative side effects of antiepileptic drugs (AED) on cognition, behavior, mood, and academic achievement. We aimed to evaluate parents' subjective feelings about cognitive or behavioral changes in their children and their quality of life after antiepileptic drug (AED) discontinuation.

Methods: A modified questionnaire based on the Korean-Quality of Life in Childhood Epilepsy and the Korean-Child Behavior Checklist was answered by parents whose children were seizure-free over the course of 1 month after AED discontinuation.

Common variants in the CRP promoter are associated with a high C-reactive protein level in Kawasaki disease.

Kawasaki disease (KD) is an acute self-limiting form of vasculitis that afflicts infants and children and manifests as fever and signs of mucocutaneous inflammation. Children with KD show various laboratory inflammatory abnormalities, such as elevations in their white blood cell (WBC) count, C-reactive protein (CRP) level, and erythrocyte sedimentation rate (ESR). We here performed a genome-wide association study (GWAS) of 178 KD patients to identify the genetic loci that influence 10 important KD laboratory markers: WBC count, neutrophil count, platelet count, CRP, ESR, hemoglobin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), albumin, and total protein.