Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice.

Background: This study aimed to explore the clinical utility of targeted MECP2 testing in a large cohort of females with neurodevelopmental delays. Our aim was to identify suitable candidates for testing based on prevailing diagnostic criteria.

Methods: Eligible participants with global developmental delay/arrest or regression before age 36 months underwent MECP2 testing.

Single-channel seizure detection with clinical confirmation of seizure locations using CHB-MIT dataset.

Introduction: Long-term electroencephalography (EEG) monitoring is advised to patients with refractory epilepsy who have a failure of anti-seizure medication and therapy. However, its real-life application is limited mainly due to the use of multiple EEG channels. We proposed a patient-specific deep learning-based single-channel seizure detection approach using the long-term scalp EEG recordings of the Children's Hospital Boston-Massachusetts Institute of Technology (CHB-MIT) dataset, in conjunction with neurologists' confirmation of spatial seizure characteristics of individual patients.

Severe Neurological Manifestation Associated With Coronavirus Disease 2019 in Children During the Omicron Variant-Predominant Period.

Background: The Omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is known to be more infectious and less severe than the other variants. Despite the increasing number of symptomatic patients, severe neurological complications in children with the Omicron variant have been reported rarely, unlike with wild-type or Delta variants. This study aimed to investigate severe neurological complications in children with Omicron variant infection.

Synthesis of Microscopic 3D Graphene for High-Performance Supercapacitors with Ultra-High Areal Capacitance.

Despite graphene being considered an ideal supercapacitor electrode material, its use in commercial devices is limited because few methods exist to produce high-quality graphene at a large scale and low cost. A simple method is reported to synthesize 3D graphene by graphenization of coal tar pitch with a KCO catalyst. This produces 3D graphenes with high specific surface areas up to 2113 m g and exceptional crystallinity (Raman I/I as low as ≈0.

High-performance cementitious composites containing nanostructured carbon additives made from charred coal fines.

Carbon-based nanomaterials, such as carbon nanoplatelets, graphene oxide, and carbon quantum dots, have many possible end-use applications due to their ability to impart unique mechanical, electrical, thermal, and optical properties to cement composites. Despite this potential, these materials are rarely used in the construction industry due to high material costs and limited data on performance and durability. In this study, domestic coal is used to fabricate low-cost carbon nanomaterials that can be used economically in cement formulations.

SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.

The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profiles, and electroencephalography (EEG) patterns were examined.

Neuron-Microglia Interaction is Involved in Anti-inflammatory Response by Vagus Nerve Stimulation in the Prefrontal Cortex of Rats Injected with Polyinosinic:Polycytidylic Acid.

Injection of polyinosinic:polycytidylic acid (poly(I:C)) into experimental animals induces neuroimmunological responses and thus has been used for the study of neurological disorders such as anxiety, depression, and chronic fatigue. Here, we investigated the effects of vagus nerve stimulation (VNS) on poly(I:C)-induced neuroinflammation and associated behavioral consequences in rats. The microglia in the prefrontal cortex (PFC) displayed the activated form of morphology in poly(I:C)-injected rats and changed to a normal shape after acute VNS (aVNS).

Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy.

Objective: Temporal coordination between oscillations enables intercortical communication and is implicated in cognition. Focal epileptic activity can affect distributed neural networks and interfere with these interactions. Refractory pediatric epilepsies are often accompanied by substantial cognitive comorbidity, but mechanisms and predictors remain mostly unknown.

A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel Variants, Mimicking Post-Infectious Encephalitis.

loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy after febrile episode, mimicking post-infectious encephalitis. The patient had displayed normal development until 12 months of age.

Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.

Objective: Although pediatric epilepsy is an independent disease entity, it is often observed in pediatric neurodevelopmental disorders (NDDs) as a major or minor clinical feature, which might provide diagnostic clues. This study aimed to identify the clinical and genetic characteristics of patients with epilepsy in an NDD cohort and demonstrate the importance of genetic testing.

Methods: We retrospectively analyzed the detailed clinical differences of pediatric NDD patients with epilepsy according to their genetic etiology.

Ancient Horizontal Gene Transfers from Plastome to Mitogenome of a Nonphotosynthetic Orchid, (Epidendroideae, Orchidaceae).

is a nonphotosynthetic and mycoheterotrophic orchid belonging to subfamily Epidendroideae. Compared to other typical angiosperm species, the plastome of . is dramatically reduced in size to only 30,698 base pairs (bp).

Sorption-Induced Fiber Optic Plasmonic Gas Sensing via Small Grazing Angle of Incidence.

Sensing technologies based on plasmonic nanomaterials are of interest for various chemical, biological, environmental, and medical applications. In this work, an incorporation strategy of colloidal plasmonic nanoparticles (pNPs) in microporous polymer for realizing distinct sorption-induced plasmonic sensing is reported. This approach is demonstrated by introducing tin-doped indium oxide pNPs into a polymer of intrinsic microporosity (PIM-1).

Anti-Inflammatory Effects of Essential Oils from the Peels of Citrus Cultivars.

Citrus cultivars have remarkable health benefits, but only the anti-inflammatory activities of the major varieties have been studied. This study investigated the anti-inflammatory effects of various citrus cultivars and their active anti-inflammatory components. The essential oils of 21 citrus peels were extracted via hydrodistillation using a Clevenger-type apparatus, and the chemical compositions of the essential oils were analyzed.

Deep learning-based automated detection and multiclass classification of focal interictal epileptiform discharges in scalp electroencephalograms.

Detection and spatial distribution analyses of interictal epileptiform discharges (IEDs) are important for diagnosing, classifying, and treating focal epilepsy. This study proposes deep learning-based models to detect focal IEDs in electroencephalography (EEG) recordings of the frontal, temporal, and occipital scalp regions. This study included 38 patients with frontal (n = 15), temporal (n = 13), and occipital (n = 10) IEDs and 232 controls without IEDs from a single tertiary center.

Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.

α-Dystroglycanopathies are a clinically and genetically heterogeneous group of muscular dystrophies associated with the defective glycosylation of α-dystroglycan (α-DG). Eighteen genes associated with α-dystroglycanopathies have been identified, and the relative prevalence of genetic subtypes varies with ethnicity. Here, we investigated the clinical and genetic characteristics of α-DG-related muscular dystrophy in the Korean pediatric population.

Outcomes of the second withdrawal of anti-seizure medication in patients with pediatric-onset epilepsy.

Withdrawal of anti-seizure medication (ASM) is challenging, especially in patients with recurrent seizures. Only limited evidence exists regarding the success rate and recurrence risk factors after withdrawal of ASM for a second time in patients with pediatric-onset epilepsy. In this observational study, we evaluated 104 patients with recurrent pediatric-onset epilepsy who had ASM withdrawn for a second time.

A case of pediatric anti-leucine-rich glioma inactivated 1 encephalitis with faciobrachial dystonic seizure.

Background: Anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis is a rare type of autoimmune encephalitis. A characteristic faciobrachial dystonic seizure (FBDS) is also frequently associated with this disease. Although primarily reported in the adult population, reports of its occurrence in the pediatric population are rare.

Inhibition of Melanogenesis by Essential Oils from the Citrus Cultivars Peels.

Citrus is one of the most popular and widely grown fruit crops in the world. However, the bioactivity of only certain species of citrus cultivars is studied. In this study, the effects of essential oils from 21 citrus cultivars on melanogenesis were investigated in an effort to identify active anti-melanogenesis constituents.

Evolutionary Patterns of the Chloroplast Genome in Vanilloid Orchids (Vanilloideae, Orchidaceae).

The Vanilloideae (vanilloids) is one of five subfamilies of Orchidaceae and is composed of fourteen genera and approximately 245 species. In this study, the six new chloroplast genomes (plastomes) of vanilloids (two , two , and two species) were decoded, and then the evolutionary patterns of plastomes were compared to all available vanilloid plastomes. has the longest plastome, with 158,200 bp in genome size.

Seizure Evolution and Outcome in Pediatric Autoimmune Encephalitis.

Background: Our study aimed to characterize seizure incidence and seizure outcome of pediatric autoimmune encephalitis (AE) focusing on subgroup analysis based on antibody (Ab).

Methods: Among 110 pediatric patients with AE, we compared seizure characteristics and outcomes in 68 patients with seizure, who satisfied the proposed criteria of pediatric AE. Accordingly, patients were classified into three groups, anti-myelin oligodendrocyte glycoprotein (anti-MOG) AE, anti-N-methyl-D-aspartic acid receptor (anti-NMDAR) AE, and Ab-negative AE.

Diverse Patterns and Clinical Significance of 11C-Methionine PET in Dysembryoplastic Neuroepithelial Tumors.

Purpose: Dysembryoplastic neuroepithelial tumors (DNETs) are slow-growing epilepsy-associated tumors. Low or normal 11C-methionine (MET) PET uptake helps to differentiate DNETs from other low-grade gliomas. However, diverse MET-PET uptake in DNETs has been observed.

Deep Learning-Based Detection of Epileptiform Discharges for Self-Limited Epilepsy With Centrotemporal Spikes.

Centrotemporal spike-waves (CTSWs) are typical interictal epileptiform discharges (IEDs) observed in centrotemporal regions in self-limited epilepsy with centrotemporal spikes (SLECTS). This study aims to develop a deep learning-based approach for automated detection of CTSWs in scalp electroencephalography (EEG) recordings of patients with SLECTS. To lower the substantial burden of IED annotation on clinicians, we simplified it by limiting IEDs to CTSWs because electroencephalographic patterns of CTSWs are known to be highly consistent.