Assembly of glioblastoma tumoroids and cerebral organoids: a 3D in vitro model for tumor cell invasion.

Glioblastoma (GBM) has a fatal prognosis because of its aggressive and invasive characteristics. Understanding the mechanism of invasion necessitates an elucidation of the relationship between tumor cells and the tumor microenvironment. However, there has been a scarcity of suitable models to investigate this.

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability.

Background: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole exome sequencing (WES) of children with unexplained DD/ID.

Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant.

Coffin-Siris syndrome (CSS) is a rare congenital disorder characterized by coarse facial features, intellectual disability or developmental delay, and aplasia or hypoplasia of the tips of the fifth finger and/or toes. Mutations in genes affecting the switch/sucrose non-fermenting ATP-dependent chromatin remodeling complex are reported to cause CSS. Here, we describe three CSS patients.

Effects of a bowel function improvement program for patients with rectal cancer surgery: A randomized controlled trial.

Objectives: This study aimed to examine the effectiveness of a bowel function improvement program for male patients with rectal cancer who underwent low anterior resection.

Methods: A prospective, unblinded, and randomized controlled trial was conducted. The enrolled 42 patients were assigned to the experimental or control group at a 1:1 ratio.

Rapid and ultrasensitive miRNA detection by combining endonuclease reactions in a rolling circle amplification (RCA)-based hairpin DNA fluorescent assay.

MicroRNA (miRNA) sensing strategies employing rolling circle amplification (RCA) coupled with the hairpin DNA (HD) probe-mediated FRET assay have shown promise, but achieving rapid, sensitive, and specific detection of target miRNA remains a challenge in clinical diagnostics. Herein, we incorporate PstI endonuclease cleavage (PEC) into a conventional RCA-based HD probe FRET assay to develop an effective and feasible method. Long single-stranded RCA products are synthesized from miRNA-21 loaded on a circular dumbbell DNA, and the resultant RCA products self-assemble to generate long HD structures with double-stranded stem regions that are specifically recognized and cleaved by PstI endonucleases when incubated with PstI enzymes.

Self-assembled DNA dendrons as signal amplifiers in a DNA probe-based chemiluminescence assay for enhanced colorimetric detection of short target cDNA.

A simple, reliable, and cost-effective method for nucleic acid detection is of increasing interest in clinical diagnostics of infectious and genetic diseases. Currently, enzyme-mediated methods such as polymerase chain reactions and loop-mediated isothermal amplification are the most widely used methods in the qualitative and quantitative diagnosis of long nucleic acid sequences with high sensitivity. However, a high detection sensitivity for short-length sequences remains a significant challenge because it is difficult for the primers to bind to their sequences.

Discovery and Functional Study of a Novel Genomic Locus Homologous to -Mating-Type Sublocus of .

The interaction of mating pheromone and pheromone receptor from the mating-type locus is the first step in the activation of the mushroom mating signal transduction pathway. The mating-type locus of is composed of and subloci, each of which contains genes for mating pheromone and pheromone receptor. Allelic variations in both subloci generate multiple mating-types through which maintains genetic diversity.

Chromosomal Microarray in Children With Developmental Delay: The Experience of a Tertiary Center in Korea.

Chromosomal microarray (CMA) is a first-tier genetic test for children with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCA). In this study, we report our experiences with the use of CMA in Korean children with unexplained DD/ID. We performed CMA in a cohort of 308 children with DD/ID between January 2010 and September 2020.

Effect of Quinoa ( Willd.) Starch and Seeds on the Physicochemical and Textural and Sensory Properties of Chicken Meatballs during Frozen Storage.

The effects of starch (corn and quinoa) and quinoa seeds on chicken meatballs' physicochemical, textural, and sensory properties were investigated during frozen storage. The chicken meatballs were prepared with corn starch (CS), quinoa starch (QS), quinoa seeds (Q), and combinations of corn starch and quinoa seeds (CS-Q), and quinoa starch and quinoa seeds (QS-Q), which were subjected to five freeze-thaw (F-T) cycles of temperature fluctuation conditions during frozen storage. Regardless of the type used (CS or QS), adding starch resulted in fewer cooking, drip, and reheating losses in chicken meatballs during frozen storage.

The effectiveness of preoperative stoma site marking on patient outcomes: A systematic review and meta-analysis.

Aims: This study systematically reviews the literature regarding preoperative stoma site marking and discusses the effectiveness of the procedure on complication rates, self-care deficits and health-related quality of life (HRQOL).

Design: Systematic review and meta-analysis.

Data Source: Our review was conducted following the PRISMA guidelines.

Radiological manifestation of familial acute necrotizing encephalopathy with RANBP2 mutation in a Far-East Asian family: Case report.

Rationale: Acute necrotizing encephalopathy (ANE) is a specific type of encephalopathy usually followed by febrile infection. It has an aggressive clinical course; however, it usually does not recur after recovery in cases of spontaneous ANE. Nevertheless, there are several studies reporting recurrences in familial ANE with RAN-binding protein 2 (RANBP2) mutation.

EEG Characteristics and Diagnostic Implications in Childhood Headache: A Multi-Center Study.

Epilepsy and migraines are frequently observed as comorbidities, with the occurrence of one disorder increasing the probability of the other. The aim of our study was to evaluate the EEG characteristics by the type of headache and the implications of EEGs in headache patients, comparing the clinical characteristics and treatments between the headache patients with normal and abnormal EEGs. We conducted a retrospective analysis reviewing the medical records of 259 patients with headaches who visited the pediatrics departments of five university hospitals and underwent EEGs over a period of 3 years.

Clinical and Imaging Findings of Neonatal Seizures Presenting as Diffuse Cerebral White Matter Abnormality on Diffusion-Weighted Imaging without any Structural or Metabolic Etiology.

Purpose: Some patients with neonatal seizures show diffuse, symmetric diffusion-restricted lesions in the cerebral white matter. The aim of this study was to describe clinical and imaging findings of patients with neonatal seizures who had diffuse, symmetric diffusion-restricted lesions without any structural or metabolic etiology.

Materials And Methods: A total of 56 neonates aged less than 1 week underwent brain magnetic resonance imaging (MRI) for evaluation of seizures from November 2008 to February 2017.

Clinical utility of the FilmArray meningitis/encephalitis panel in children at a tertiary center in South Korea.

Background: We retrospectively evaluated the pathogens in the cerebrospinal fluid (CSF) of pediatric meningitis/encephalitis (M/E) by FilmArray meningitis/encephalitis panel (FA-MEP), and the characteristics of children showing positive and negative FA-MEP results.

Method: FA-MEP along with conventional tests (bacterial/viral cultures, and polymerase chain reaction tests) was performed in children who presented symptoms of M/E. Clinical and laboratory data were reviewed to evaluate the characteristics of children with pathogens detected by FA-MEP.

Longitudinal changes in insulin resistance in children with epilepsy on ketogenic diet: Prevalence and risk factors.

Introduction: The aim of the study was to evaluate the incidence of insulin resistance (IR) and the associated risk factors in children with epilepsy on a ketogenic diet (KD).

Methods: This longitudinal cohort study analyzed data of children with epilepsy on KD. Insulin resistance was assessed using the homeostasis model assessment of insulin resistance (HOMA-IR).

Autonomy is not but competence and relatedness are associated with physical activity among colorectal cancer survivors.

Purpose: The main objective of this study was to use the framework of the self-determination theory, incorporating both internal and external sources of motivation, to identify factors influencing physical activity among colorectal cancer survivors (CRC-S) in Korea.

Method: In total, 242 patients at a university-affiliated hospital in Seoul, Korea, responded to a descriptive survey, which comprised questionnaire sets including the Global Physical Activity Questionnaire and the Patient Health Questionnaire. Motivation was then assessed on three scales: the Treatment Self-Regulation (autonomy), Perceived Competence (competence), and the multidimensional Scale of Perceived Social Support (relatedness).

Predictive value of an early amplitude-integrated electroencephalogram for short-term neurologic outcomes in preterm infants.

Background And Objectives: The aim of this study was to compare serial scores of amplitude-integrated electroencephalography (aEEG) in preterm infants with favorable neurologic outcome compared with those with unfavorable neurologic outcome and to evaluate whether aEEG in the early days of life has predictive value for short-term neurologic outcome in preterm infants.

Methods: This prospective observational study included infants born at ≤32 weeks of gestational age and ≤1,500 g of birth weight. On the basis of brain ultrasonography findings, the infants were divided into two groups (favorable and unfavorable outcome group) at 36 weeks of corrected age or at discharge.

Myelin oligodendrocyte glycoprotein antibody-associated disorders: clinical spectrum, diagnostic evaluation, and treatment options.

Inflammatory or immune-mediated demyelinating central nervous system (CNS) syndromes include a broad spectrum of clinical phenotype and different overlapping diseases. Antibodies against myelin oligodendrocyte glycoprotein (MOG-Ab) have been found in some cases of these demyelinating diseases, particularly in children. MOG-Ab is associated with a wider clinical phenotype not limited to neuromyelitis optica spectrum disorder, with most patients presenting with optic neuritis, acute disseminated encephalomyelitis (ADEM) or ADEM-like encephalitis with brain demyelinating lesions, and/or myelitis.

Bone health in pediatric patients with neurological disorders.

Patients with neurological disorders are at high risk of developing osteoporosis, as they possess multiple risk factors leading to low bone mineral density. Such factors include inactivity, decreased exposure to sunlight, poor nutrition, and the use of medication or treatment that can cause lower bone mineral density such as antiepileptic drugs, ketogenic diet, and glucocorticoids. In this article, mechanisms involved in altered bone health in children with neurological disorders and management for patients with epilepsy, cerebral palsy, and Duchenne muscular dystrophy regarding bone health are reviewed.

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.

Prospective research of human parechovirus and cytokines in cerebrospinal fluid of young children less than one year with sepsis-like illness: Comparison with enterovirus.

Background: Human parechovirus (PeV) and enterovirus are important pathogens that cause viral infection and aseptic meningitis in young children. We aimed to investigate the rate of HPeV and enterovirus detection, and to characterize cytokine profiles in the cerebrospinal fluid (CSF) of young infants with sepsis-like illness or meningitis/encephalitis.

Study Design: This was a prospective cohort study.

Autoimmune encephalitis and epilepsy: evolving definition and clinical spectrum.

Advances in autoimmune encephalitis studies in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder. The disorder or syndrome has been linked to a wide variety of pathologic processes associated with the neuron-specific autoantibodies targeting intracellular and plasma membrane antigens. However, current criteria for autoimmune encephalitis are quite dependent on antibody testing and responses to immunotherapy, which might delay the diagnosis.