Genome-Wide Association Study Identifying a Novel Gene Related to a History of Febrile Convulsions in Patients With Focal Epilepsy.

Background And Purpose: The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genome-wide association study of Korean epilepsy patients.

Methods: We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history.

Large-Scale Validation of the Feasibility of GPT-4 as a Proofreading Tool for Head CT Reports.

Background The increasing workload of radiologists can lead to burnout and errors in radiology reports. Large language models, such as OpenAI's GPT-4, hold promise as error revision tools for radiology. Purpose To test the feasibility of GPT-4 use by determining its error detection, reasoning, and revision performance on head CT reports with varying error types and to validate its clinical utility by comparison with human readers.

Thermally Induced Irreversible Disorder in Interlayer Stacking of γ-GeSe.

The interlayer stacking shift in van der Waals (vdW) crystals represents an important degree of freedom to control various material properties, including magnetism, ferroelectricity, and electrical properties. On the other hand, the structural phase transitions driven by interlayer sliding in vdW crystals often exhibit thickness-dependent, sample-specific behaviors with significant hysteresis, complicating a clear understanding of their intrinsic nature. Here, the stacking configuration of the recently identified vdW crystal, γ-GeSe, is investigated, and the disordering manipulation of stacking sequence is demonstrated.

Unveiling the distinctive mechanical and thermal properties of γ-GeSe.

γ-GeSe is a newly identified polymorph among group-IV monochalcogenides, characterized by a distinctive interatomic bonding configuration. Despite its promising applications in electrical and thermal domains, the experimental verification of its mechanical and thermal properties remains unreported. Here, we experimentally characterize the in-plane Young's modulus (E) and thermal conductivity ([Formula: see text]) of γ-GeSe.

Long-term outcomes of patients with embolic stroke of undetermined source according to subtype.

The prognosis of patients with embolic stroke of undetermined source (ESUS) may vary according to the underlying cause. Therefore, we aimed to divide ESUS into subtypes and assess the long-term outcomes. Consecutive patients with acute ischemic stroke who underwent a comprehensive workup, including transesophageal echocardiography and prolonged electrocardiography monitoring, were enrolled.

Long-term outcome of treatment-naïve patients with mesial temporal lobe epilepsy with hippocampal sclerosis: A retrospective study in a single center.

Purpose: This study aimed to describe long-term treatment outcomes of treatment-naïve patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS).

Methods: A retrospective review was conducted of treatment-naïve patients with MTLE-HS who visited the Yonsei Epilepsy Clinic from April 2000 to April 2022 and were followed up for at least 2 years. Seizure freedom (SF) was defined as no seizures or auras only for >1 year, and complete SF was defined as no seizures including auras for >1 year.

Electrical Transport Properties Driven by Unique Bonding Configuration in γ-GeSe.

Group IV monochalcogenides have recently shown great potential for their thermoelectric, ferroelectric, and other intriguing properties. The electrical properties of group IV monochalcogenides exhibit a strong dependence on the chalcogen type. For example, GeTe exhibits high doping concentration, whereas S/Se-based chalcogenides are semiconductors with sizable bandgaps.

Unveiling Operator Growth Using Spin Correlation Functions.

In this paper, we study non-equilibrium dynamics induced by a sudden quench of strongly correlated Hamiltonians with all-to-all interactions. By relying on a Sachdev-Ye-Kitaev (SYK)-based quench protocol, we show that the time evolution of simple spin-spin correlation functions is highly sensitive to the degree of -locality of the corresponding operators, once an appropriate set of fundamental fields is identified. By tracking the time-evolution of specific spin-spin correlation functions and their decay, we argue that it is possible to distinguish between operator-hopping and operator growth dynamics; the latter being a hallmark of quantum chaos in many-body quantum systems.

γ-GeSe: A New Hexagonal Polymorph from Group IV-VI Monochalcogenides.

The family of group IV-VI monochalcogenides has an atomically puckered layered structure, and their atomic bond configuration suggests the possibility for the realization of various polymorphs. Here, we report the synthesis of the first hexagonal polymorph from the family of group IV-VI monochalcogenides, which is conventionally orthorhombic. Recently predicted four-atomic-thick hexagonal GeSe, so-called γ-GeSe, is synthesized and clearly identified by complementary structural characterizations, including elemental analysis, electron diffraction, high-resolution transmission electron microscopy imaging, and polarized Raman spectroscopy.

Toward a disposable low-cost LOC device: heterogeneous polymer micro valve and pump fabricated by UV/ozone-assisted thermal fusion bonding.

Herein, a heterogeneous polymer micro valve and pump with a polypropylene (PP) membrane was developed in a low-cost manner UV/ozone-assisted thermal fusion bonding. The proposed fabrication technique allowed for a geometrically selective bonding; consequently, the membrane was prevented from bonding with the valve seat of the diaphragm micro-valve, without patterning a protection layer or introducing an additional structure. The developed device withstands 480 kPa of static pressure and up to 350 kPa of a vibration pressure, providing sufficient bonding strength for microfluidic actuations.

Atrophy patterns in cerebral amyloid angiopathy with and without cortical superficial siderosis.

Objective: To investigate differential atrophy patterns based on the presence of cortical superficial siderosis (cSS) and the role of cSS in predicting amyloid positivity in memory clinic patients fulfilling the diagnostic criteria for probable cerebral amyloid angiopathy (CAA).

Methods: We retrospectively collected data from 44 cognitively impaired patients with probable CAA who underwent 3-dimensional, T1-weighted MRIs (cSS+, n = 27; cSS-, n = 17). Amyloid-positive patients with Alzheimer disease (AD) (n = 56) and amyloid-negative cognitively normal participants (n = 34) were recruited as controls.

Tracking Cognitive Decline in Amnestic Mild Cognitive Impairment and Early-Stage Alzheimer Dementia: Mini-Mental State Examination versus Neuropsychological Battery.

Background/aims: Although the Mini-Mental State Examination (MMSE), Clinical Dementia Rating-Sum of Boxes (CDR-SOB), and neuropsychological batteries are widely used for evaluating cognitive function, it remains elusive which instrument best reflects the longitudinal disease progression in amnestic mild cognitive impairment (aMCI) and probable Alzheimer disease (AD). We investigated whether changes in these three instruments over time correlate with loss of cortical gray matter volume (cGMV).

Methods: We retrospectively investigated 204 patients (aMCI, n = 114; AD, n = 90) who had undergone MMSE, CDR-SOB, the dementia version of the Seoul Neuropsychological Screening Battery (SNSB-D), and 3-dimensional T1-weighted magnetic resonance images at least twice.

Solid phase DNA extraction with a flexible bead-packed microfluidic device to detect methicillin-resistant Staphylococcus aureus in nasal swabs.

We have developed a bead-packed microfluidic device with a built-in flexible wall to automate extraction of nucleic acids from methicillin-resistant Staphylococcus aureus (MRSA) in nasal swabs. The flexible polydimethylsiloxane (PDMS) membrane was designed to manipulate the surface-to-volume ratio (SVR) of bead-packed chambers in the range of 0.05 to 0.

Saccharomyces cerevisiae Cmr1 protein preferentially binds to UV-damaged DNA in vitro.

DNA metabolic processes such as DNA replication, recombination, and repair are fundamentally important for the maintenance of genome integrity and cell viability. Although a large number of proteins involved in these pathways have been extensively studied, many proteins still remain to be identified. In this study, we isolated DNA-binding proteins from Saccharomyces cerevisiae using DNA-cellulose columns.

Miniaturized bead-beating device to automate full DNA sample preparation processes for gram-positive bacteria.

We have developed a miniaturized bead-beating device to automate nucleic acids extraction from Gram-positive bacteria for molecular diagnostics. The microfluidic device was fabricated by sandwiching a monolithic flexible polydimethylsiloxane (PDMS) membrane between two glass wafers (i.e.

Functional integration of DNA purification and concentration into a real time micro-PCR chip.

Microfluidic devices for on-chip amplification of DNA from various biological and environmental samples have gained extensive attention over the past decades with many applications including molecular diagnostics of disease, food safety and biological warfare testing. But the integration of sample preparation functions into the chip remains a major hurdle for practical application of the chip-based diagnostic system. We present a PCR-based molecular diagnostic device comprised of a microfabricated chip and a centrifugal force assisted liquid handling tube (CLHT) that is designed to carry out concentration and purification of DNA and subsequent amplification of the target gene in a single chip.

Electrochemical cell lysis device for DNA extraction.

We present a novel electrochemical cell lysis device to prepare DNA samples for lab-on-a-chip (LOC) applications. It utilizes the electrolysis of saline solution to generate hydroxide ions (OH(-)) at the cathode as alkaline lytic agents. Cathode and anode chambers are separated by a negatively-charged ion exchangeable polymer diaphragm to maintain the high pH level for efficient cell lysis in the cathode chamber, to prevent inflow of PCR-amplification inhibitors from the anode chamber, and to minimize binding of DNA molecules.

Bacterial DNA sample preparation from whole blood using surface-modified Si pillar arrays.

A novel bacterial DNA sample preparation device for molecular diagnostics has been developed. On the basis of optimized conditions for bacterial adhesion, surface-modified silicon pillar arrays for bacterial cell capture were fabricated, and their ability to capture bacterial cells was demonstrated. The capture efficiency for bacterial cells such as Escherichia coli, Staphylococcus epidermidis, and Streptococcus mutans in buffer solution was over 75% with a flow rate of 400 microL/min.

Isolation of total RNA from Escherichia coli using kosmotropic Hofmeister salts.

Most of the widely used RNA isolation methods involve the use of toxic chemicals, including chaotropic salts and phenol. In an effort to solve this problem, we studied an alternative method to purify total RNA without any harmful chemicals. This method was based on silica spin columns and kosmotropic Hofmeister salts.

Reversible capture of genomic DNA by a Nafion-coated electrode.

A method in which an electrode itself is used as the sample preparation microchip is described. The gold electrode was coated with an ion-permeable polymer, Nafion, to prevent the permanent adsorption and destruction of DNA. The modified electrode was able to capture as much DNA as the bare gold electrode and to release the captured DNA effectively, whereas the bare gold electrode could not release bound DNA.

Screening of genes related to methylglyoxal susceptibility.

Methylglyoxal (MG) is a reactive metabolite known to accumulate in certain physiological conditions. We attempted to isolate genes associated with this metabolite by genome-wide mutagenesis with TnphoA derivative. After screening on methylglyoxal-containing plate, we obtained insertions in three different genes, ydbD, yjjQ, and yqiI, which gave rise to reproducible MG-sensitive phenotypes in glyoxalase-deficient strain.

Di(2-ethylhexyl)phthalate leached from medical PVC devices serves as a substrate and inhibitor for the P-glycoprotein.

A di(2-ethylhexyl)phthalate (DEHP) was accidentally extracted from plastics in the process of purification of chemosensitizers reversing P-glycoprotein (Pgp)-mediated multidrug resistance (MDR). The purpose of this study was to investigate the Pgp-reversal activities of phthalates, which are endocrine-disrupting chemicals, by utilizing the Pgp-overexpressing leukemic cell line AML-2/D100. The phthalates includes DEHP, diethyl phthalate (DEP) and dibutyl phthalate (DBP).

Poly(dimethyl siloxane)-based protein chip for simultaneous detection of multiple samples: use of glycidyl methacrylate photopolymer for site-specific protein immobilization.

This paper describes fabrication of a poly(dimethyl siloxane) (PDMS)-based chip to analyze multiple protein interactions utilizing glycidyl methacrylate (GMA) photopolymer for a site-specific immobilization of capture proteins in a closed system. First, using one direction channels of a PDMS mold having cross-channels, GMA micropads were prepared by photopolymerizing GMA solution by 365 nm light irradiation at predetermined positions. After the first mold was replaced with a second mold having higher height or directly without mold changing, capture proteins were allowed to be covalently immobilized onto the surface of the epoxide-activated GMA pads.