Evaluation of Neurovascular Coupling in Early-Onset and Late-Onset Epilepsy of Unknown Etiology.

Background: Previous studies have shown neurovascular coupling (NVC) dysfunction in epilepsy, suggesting its role in the pathological mechanisms. However, it remains unclear whether NVC abnormalities exist in epilepsy of unknown etiology (EU).

Purpose: To integrate multiparametric MRI to assess NVC and its relationship with cognition in early-onset and late-onset EU patients.

Influence of polypropylene fibers on the tensile mechanical properties of calcium silicate hydrate: molecular simulation.

Context: This research assesses the influence of polypropylene (PP) fibers, both homopolymer and hydroxylated (PPOH), on the tensile properties of calcium silicate hydrate (C-S-H) composites through molecular dynamics (MD) simulations. Our models explore C-S-H matrices integrated with PP and PPOH fibers at varying polymerization degrees. The results demonstrate that both PP and PPOH fibers significantly influence the tensile strength and Young's modulus of the composites.

Structural and functional abnormalities and cognitive profiles in older adults with early-onset and late-onset focal epilepsy.

This study aimed to determine the patterns of changes in structure, function, and cognitive ability in early-onset and late-onset older adults with focal epilepsy (OFE). This study first utilized the deformation-based morphometry analysis to identify structural abnormalities, which were used as the seed region to investigate the functional connectivity with the whole brain. Next, a correlation analysis was performed between the altered imaging findings and neuropsychiatry assessments.

Peliminary exploration on the differential diagnosis between meningioma and schwannoma using contrast-enhanced TWI flow-sensitive black-blood sequence.

Introduction: Contrast-enhanced TWI flow-sensitive black-blood (CE-T1WI FSBB) is a newly developed sequence which had not been widely used for differential diagnosis of brain tumors.

Methods: To quantify the pre-operative imaging features of intratumoral microbleeds and intratumoral vessels using CE-TWI FSBB scan and study the differences in biological behavior of meningiomas and schwannomas underlying the imaging features. Seventy-three cases of meningiomas and 24 cases of schwannomas confirmed by postoperative pathology were included.

Association of deep medullary veins with the neuroimaging burden of cerebral small vessel disease.

Background: This study aimed to explore the association between deep medullary veins (DMVs) and the neuroimaging burden of cerebral small vessel disease (CSVD).

Methods: In this cross-sectional study based on a retrospective analysis, a total of 248 patients (183 males and 65 females; mean age ± standard deviation, 69.5±14.

Supratentorial hemangioblastoma at the anterior skull base: A case report.

Background: Hemangioblastoma (HB) is a rare tumor, comprising about 2% of all intracranial tumors. Although it is a benign tumor, due to the abundant blood supply and its close relationship with adjacent cerebral blood vessels, surgical resection is difficult and may cause complications such as bleeding. If HB can be correctly diagnosed before surgery, complications can be avoided by methods such as vascular embolism before surgery.

Preoperative Assessment of Blood Vessels and Intratumoral Microbleeds in Brain Tumors Based on a 3D Contrast-Enhanced T -Weighted Flow-Sensitive Black-Blood Sequence.

Background: Three-dimensional (3D) contrast-enhanced T -weighted flow-sensitive black-blood (CE-T WI FSBB) is a newly developed black blood sequence by adding motion probing gradient pulses to gradient echo (GRE) sequences, which has important value for the preoperative assessment of tumor brain blood supply vessels and intratumoral microbleeds.

Purpose: To compare 3D CE-T WI FSBB and 3D contrast-enhanced fast spin echo (FSE) sequence for T WI for preoperative assessment of blood vessels and microbleeds in brain tumors and to investigate the correlation between visible vessels and microbleeds.

Study Type: Prospective.

Functionalized PEG-PLA nanoparticles for brain targeted delivery of ketoconazole contribute to pregnane X receptor overexpressing in drug-resistant epilepsy.

Objective: To develop a functionalized PEG-PLA nanoparticle system containing ketoconazole (KCZ) to overcome the overactivity of pregnane X receptor (PXR) for the treatment of drug-resistant epilepsy (DRE).

Significance: KCZ was developed as a therapy strategy for DRE limited by its lethal hepatotoxicity and minute brain concentration. KCZ-incorporated nanoparticles modified with angiopep-2 (NPs/KCZ) could reduce adverse effects of KCZ and achieve epileptic foci-targeted drug delivery.

Comprehensive preimplantation genetic testing by massively parallel sequencing.

Study Question: Can whole genome sequencing (WGS) offer a relatively cost-effective approach for embryonic genome-wide haplotyping and preimplantation genetic testing (PGT) for monogenic disorders (PGT-M), aneuploidy (PGT-A) and structural rearrangements (PGT-SR)?

Summary Answer: Reliable genome-wide haplotyping, PGT-M, PGT-A and PGT-SR could be performed by WGS with 10× depth of parental and 4× depth of embryonic sequencing data.

What Is Known Already: Reduced representation genome sequencing with a genome-wide next-generation sequencing haplarithmisis-based solution has been verified as a generic approach for automated haplotyping and comprehensive PGT. Several low-depth massively parallel sequencing (MPS)-based methods for haplotyping and comprehensive PGT have been developed.

A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations.

Purpose: To explore a new preimplantation genetic testing (PGT) method for de novo mutations (DNMs) combined with chromosomal balanced translocations by whole-genome sequencing (WGS) using the MGISEQ-2000 sequencer.

Methods: Two families, one with maternal Olmsted syndrome caused by DNM (c.1246C>T) in TRPV3 and a paternal Robertsonian translocation and one with paternal Marfan syndrome caused by DNM (c.

Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA.

Objectives: The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method.

Method: A total of 919 archived maternal plasma samples with karyotyping/microarray results, including 33 CNVs samples and 886 normal samples from September 1, 2011 to May 31, 2013, were enrolled in this study. The samples were randomly rearranged and blindly sequenced by low-coverage (about 7M reads) whole-genome sequencing of plasma DNA.

Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center.

Objective: The objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART).

Method: In two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT for screening for trisomy 21 (T21), 18 (T18), and 13 (T13) by sequencing cell-free DNA in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were interviewed after delivery.

Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family.

Background: The embryonic genome, including genotypes and haplotypes, contains all the information for preimplantation genetic diagnosis, representing great potential for mendelian disorder carriers to conceive healthy babies.

Methods: We developed a strategy to obtain the full embryonic genome for a β-thalassemia-carrier couple to have a healthy second baby. We carried out sequencing for single blastomere cells and the family trio and further developed the analysis pipeline, including recovery of the missing alleles, removal of the majority of errors, and phasing of the embryonic genome.

Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing.

Background: Next generation sequencing (NGS) is now being used for detecting chromosomal abnormalities in blastocyst trophectoderm (TE) cells from in vitro fertilized embryos. However, few data are available regarding the clinical outcome, which provides vital reference for further application of the methodology. Here, we present a clinical evaluation of NGS-based preimplantation genetic diagnosis/screening (PGD/PGS) compared with single nucleotide polymorphism (SNP) array-based PGD/PGS as a control.

A single cell level based method for copy number variation analysis by low coverage massively parallel sequencing.

Copy number variations (CNVs), a common genomic mutation associated with various diseases, are important in research and clinical applications. Whole genome amplification (WGA) and massively parallel sequencing have been applied to single cell CNVs analysis, which provides new insight for the fields of biology and medicine. However, the WGA-induced bias significantly limits sensitivity and specificity for CNVs detection.

Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts.

Preimplantation genetic diagnosis and screening are widely accepted for chromosomal abnormality identification to avoid transferring embryos with genetic defects. Massively parallel sequencing (MPS) is a rapidly developing approach for genome analysis with increasing application in clinical practice. The purpose of this study was to use MPS for identification of aneuploidies and unbalanced chromosomal rearrangements after blastocyst biopsy.

Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor.

Clear cell renal cell carcinoma (ccRCC) is the most common kidney cancer and has very few mutations that are shared between different patients. To better understand the intratumoral genetics underlying mutations of ccRCC, we carried out single-cell exome sequencing on a ccRCC tumor and its adjacent kidney tissue. Our data indicate that this tumor was unlikely to have resulted from mutations in VHL and PBRM1.

Sequencing bias: comparison of different protocols of microRNA library construction.

Background: MicroRNAs(miRNAs) are 18-25 nt small RNAs playing critical roles in many biological processes. The majority of known miRNAs were discovered by conventional cloning and a Sanger sequencing approach. The next-generation sequencing (NGS) technologies enable in-depth characterization of the global repertoire of miRNAs, and different protocols for miRNA library construction have been developed.

Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).

A single-base pair resolution silkworm genetic variation map was constructed from 40 domesticated and wild silkworms, each sequenced to approximately threefold coverage, representing 99.88% of the genome. We identified ~16 million single-nucleotide polymorphisms, many indels, and structural variations.

Real-time RT-PCR for H5N1 avian influenza A virus detection.

The recent recurrence of highly pathogenic avian influenza virus A H5N1 was firstly reported in mid-December 2003 and continued through 2005. This study describes a sensitive and specific real-time RT-PCR method for the detection of influenza A subtype H5 and for monitoring virus loads. Using serial dilutions of influenza A H5N1 cultures, this assay reproducibly determined the lowest detection limit to be approximately 5 x 10(-2) 50 % egg infective doses (EID(50)).