Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Affecting fewer than 20,000 people as defined in South Korea, rare diseases pose significant diagnostic challenges due to their diverse manifestations and genetic heterogeneity. Genome sequencing (GS) offers a promising solution by enabling simultaneous screening for thousands of rare genetic disorders. This study explores the diagnostic utility and necessity of GS within the government-funded Korean Regional Rare Disease Diagnostic Support Program (KR-RDSP), a collaborative initiative involving 11 regional rare disease centers across Korea.

Long-term outcome and predictors of vagus nerve stimulation for drug-resistant epilepsy: Real-world evidence from the Korean national hospital consortium.

Objective: This study aimed to assess the long-term outcome and prognostic factors of vagus nerve stimulation (VNS) for drug-resistant epilepsy (DRE) using real-world data.

Method: We included 189 DRE patients who underwent VNS implantation between 2005 and 2018 at nine national hospitals in Korea. Seizure-frequency data obtained quarterly one year before and after surgery and annually up to four years after surgery were collected from medical records.

Protecting our future: environmental hazards and children's health in the face of environmental threats: a comprehensive overview.

Children face the excitement of a changing world but also encounter environmental threats to their health that were neither known nor suspected several decades ago. Children are at particular risk of exposure to pollutants that are widely dispersed in the air, water, and food. Children and adolescents are exposed to chemical, physical, and biological risks at home, in school, and elsewhere.

Clinical Profile and Predictors of Recurrent Simple Febrile Seizure.

Background: Recurrent simple febrile seizure (SFS) refers to febrile seizure (FS) that recurs within 24 hours. Patients with recurrent SFS often undergo unnecessary neurodiagnostic tests. To address this, we compared the clinical characteristics of recurrent SFS with those of SFS and investigated the risk factors associated with recurrent SFS.

Psychiatric and behavioral concerns of perampanel with concomitant levetiracetam in children with epilepsy.

Purpose: Perampanel (PER) is expanding the therapeutic scope for pediatric epilepsy owing to its efficacy and favorable safety profile. However, concerns about psychiatric and behavioral adverse events (PBAEs) in combination therapy with levetiracetam (LEV) continue to contribute to hesitation in its prescription. We investigated the risk profiles for PBAEs when adding PER to pediatric epilepsy treatment and analyzed the differences according to the presence of concomitant LEV.

Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom.

Background: Teenagers with epilepsy require special attention to ensure a successful treatment journey. Our objective was to delineate the clinical characteristics of adolescent-onset epilepsy (AOE) and investigate the predictive factors influencing first-year seizure freedom.

Methods: We retrospectively analyzed the medical records of patients whose first seizure occurred between the ages of 10 and 19 years and who received antiseizure medication (ASM) treatment for at least 12 months.

Development of a Universal Cloning System for Reverse Genetics of Human Enteroviruses.

Enteroviruses (EVs) have been associated with several human diseases. Due to their continuous emergence and divergence, EV species have generated more than 100 types and recombinant strains, increasing the public health threat caused by them. Hence, an efficient and universal cloning system for reverse genetics (RG) of highly divergent viruses is needed to understand the molecular mechanisms of viral pathology and evolution.

Real-Life Effectiveness and Tolerability of Perampanel in Pediatric Patients Aged 4 Years or Older with Epilepsy: A Korean National Multicenter Study.

Background And Purpose: The US Food and Drug Administration approval for perampanel has only recently been expanded to patients as young as 4 years, and so there have been few real-life studies of the effects of perampanel in pediatric patients. The aim of this study was to determine the long-term efficacy, factors affecting treatment response, and tolerability of perampanel as an add-on therapy in pediatric patients aged 4 years or older with epilepsy.

Methods: This multicenter retrospective observational study collected data from pediatric epilepsy centers of four Korean national universities.

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Background: The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this paper is to summarize the project results and emphasize the unmet research needs among patients with undiagnosed rare diseases in Korea.

Results: Patient enrollment, assessment, and diagnostic processes were determined by the KUDP clinical expert consortium.

The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.

Although a founder variant of 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of variants remain largely unknown. This study investigated the mutation analysis of (4448, 4810, 4863, and 4950) between Korean MMD and healthy controls. We performed a polymerase chain reaction-restriction fragment length polymorphism analysis.

Comparison of 7T and 3T MRI in patients with moyamoya disease.

Magnetic resonance imaging and magnetic resonance angiography (MRI/MRA) are widely used for evaluating the moyamoya disease (MMD). This study compared the diagnostic accuracy of 7Tesla (T) and 3T MRI/MRA in MMD. In this case control study, 12 patients [median age: 34years; range (10-66years)] with MMD and 12 healthy controls [median age: 25years; range (22-59years)] underwent both 7T and 3T MRI/MRA.

Atlantoaxial Chordoma in Two Patients with Occipital Neuralgia and Cervicalgia.

Chordoma arises from cellular remnants of the notochord. It is the most common primary malignancy of the spine in adults. Approximately 50% of chordomas arise from the sacrococcygeal area with other areas of the spine giving rise to another 15% of chordomas.

Clinical characteristics and outcome of incidental atrial septal openings in very low birth weight infants.

Background: Atrial septal openings (ASOs) are very common in premature infants.

Objective: The study aimed to evaluate the prevalence and natural course of ASOs in very low birth weight (VLBW) infants diagnosed in the first week of life and the association of ASOs with various clinical factors.

Methods: We retrospectively reviewed the medical records of 217 infants born with a weight of <1,500 g between January 2007 and December 2011.

Increased cow's milk protein-specific IgG4 levels after oral desensitization in 7- to 12-month-old infants.

Background: Cow's milk protein (CMP)-specific IgG4 responses and the efficacy of oral desensitization in infants with cow's milk allergy (CMA) warrant more clarification.

Objective: To explore whether CMP-specific IgG4 responses develop during infancy and whether regular CM exposure is efficacious for inducing a CMP-specific IgG4 response accompanying CM desensitization in 7- to 12-month-old infants.

Methods: CM-specific IgE and CMP (α-lactalbumin, β-lactoglobulin, and casein)-specific IgG4 levels were measured in 262 CM-sensitized children.

Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis.

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that results from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. The TSC1- and TSC2-encoded proteins modulate cell function via the mammalian target of rapamycin (mTOR) signaling cascade, and are key factors in the regulation of cell growth and proliferation.

Prevalence and clinical characteristics of primary headaches among school children in South Korea: a nationwide survey.

Objectives: To determine the 1-year prevalence of headache and clinical characteristics of primary headaches among school children in South Korea.

Background: Many population-based studies have estimated the 1-year prevalence of headache, migraine, and tension-type headache (TTH). The results of those studies vary in terms of race and region.

Interstitial cells of Cajal (ICC)-like-c-Kit positive cells are involved in gastritis and carcinogenesis in human stomach.

This study was executed to prove the existence of c-Kit-positive interstitial cells of Cajal (ICC)-like cells [c-Kit (+) ICC-like cells] and their possible role associated with gastric inflammation and/or carcinogenesis in human gastric mucosa. c-Kit (+) ICC-like cells were observed throughout all the layers of the gastric fundus along the greater curvature. Dense fusiform cell bodies with many processes were found in each layer.

The role of neuroimaging in children and adolescents with recurrent headaches--multicenter study.

Objectives: To evaluate the role of neuroimaging and to estimate the prevalence of significant and treatable intracranial lesions in children and adolescents with recurrent headaches.

Background: Neuroimaging studies are commonly performed in children and adolescent patients with headache because of increasing demands by parents and physicians, although objective data and studies to support this widespread practice are minimal.

Methods: We retrospectively reviewed the medical records of all 1562 (male 724, female 838) new patients presenting with recurrent headaches to 9 Pediatric Neurology Clinics of tertiary Hospitals.