Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intragenic pathogenic variants of the causative gene SMN1, which degenerates anterior horn motor neurons and leads to progressive myasthenia and muscle atrophy. Early treatment improves motor function and prognosis in patients with SMA, but drugs are expensive and do not cure the disease.

Efficient generation of singlet oxygen (O) by CoP/NiP@NF for degradation of sulfamerazine through a heterogeneous electro-Fenton process at circumneutral pH.

In electro-Fenton (EF), the development of a catalytic material with wide pH application range and high interference resistance is more suitable for practical wastewater treatment. In this study, the nanoneedle-shaped CoP/NiP heterostructure loaded onto a nickel foam substrate (CoP/NiP@NF) was successfully fabricated, which was used as a cathode material for heterogeneous electro-Fenton (Hetero-EF) to degrade sulfamerazine (SMR) at circumneutral pH. The SMR degradation efficiency within 90 min went to 100% and 87% at initial pH of 6.

FRD-Net: a full-resolution dilated convolution network for retinal vessel segmentation.

Accurate and automated retinal vessel segmentation is essential for performing diagnosis and surgical planning of retinal diseases. However, conventional U-shaped networks often suffer from segmentation errors when dealing with fine and low-contrast blood vessels due to the loss of continuous resolution in the encoding stage and the inability to recover the lost information in the decoding stage. To address this issue, this paper introduces an effective full-resolution retinal vessel segmentation network, namely FRD-Net, which consists of two core components: the backbone network and the multi-scale feature fusion module (MFFM).

Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.

Thalassemia is one of the most common and damaging monogenic diseases in the world. It is caused by pathogenic variants of α- and/or β-globin genes, which disrupt the balance of these two protein chains and leads to α-thalassemia or β-thalassemia, respectively. Patients with α-thalassemia or β-thalassemia could exhibit a severe phenotype, with no simple and effective treatment.

Intravital photoacoustic brain stimulation with high-precision.

Significance: Neural regulation at high precision vitally contributes to propelling fundamental understanding in the field of neuroscience and providing innovative clinical treatment options. Recently, photoacoustic brain stimulation has emerged as a cutting-edge method for precise neuromodulation and shows great potential for clinical application.

Aim: The goal of this perspective is to outline the advancements in photoacoustic brain stimulation in recent years.

A novel α Globin Gene Cluster Duplication, αααα Heterozygous β-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype.

To assess the effectiveness of three-level prevention and control of thalassemia, we routinely collect samples from transfusion-dependent individuals and perform genetic analysis. Here, we report on a 10-year-old boy requiring blood transfusions with routine thalassemia gene test results of αα/αα, and β/β, but he had thalassemia-like changes in his appearance and a high need for frequent blood transfusions, suggesting a case of thalassemia major in childhood. Given these equivocal results, samples from the family members were collected for further analysis.

Identification of Three Families Carrying Hb Anti-Lepore Hong Kong Variant in Guangxi, China, and Analysis of Their Hematological Data.

Thalassemia is a single-gene genetic disease with a high incidence in southern China. To prevent and control thalassemia, the most commonly used procedure is hematology testing and hemoglobin (Hb) analysis, followed by thalassemia gene analysis in positive individuals. During routine testing for thalassemia, we identified three individuals with Hb A levels of >10.

Active traffic management strategies for expressways based on crash risk prediction of moving vehicle groups.

Active traffic management (ATM) strategies are useful methods to reduce crash risk and improve safety on expressways. Although there are some studies on ATM strategies, few studies take the moving vehicle group as the object of analysis. Based on the crash risk prediction of moving vehicle groups in a connected vehicle (CV) environment, this study developed various ATM safety strategies, that is, variable speed limits (VSLs), ramp metering (RM), and coordinated VSL and RM (VSL-RM) strategies.

A Tuberculosis Outbreak at a School - Xinjiang Uygur Autonomous Region, China, 2019.

What Is Already Known About This Topic?: Worldwide, tuberculosis (TB) continues to be the most important cause of death from a single infectious agent, and China has a high TB burden. Although the reported incidence of TB in students is lower than that in general population, TB outbreaks in schools have continuously been reported in the past years, suggesting that schools are a high-risk setting for TB transmission.

What Is Added By This Report?: In total, 31 TB patients were founded in students.

Hydrous titanium oxide and bayberry tannin co-immobilized nano collagen fibrils for uranium extraction from seawater and recovery from nuclear wastewater.

Extraction uranium from complicated aqueous solutions (seawater and nuclear wastewater) has been promoting the development of multi-functional adsorbents with high adsorption capacities and high selectivity. Here, we proposed a co-immobilization approach to preparing uranium adsorbents. Due to specific recognition and binding between functional groups, bayberry tannin (BT) and hydrous titanium oxide (HTO) were co-immobilized onto nano collagen fibrils (NCFs).

Suppressing the Side Reaction by a Selective Blocking Layer to Enhance the Performance of Si-Based Anodes.

Building a stable solid electrolyte interphase (SEI) is an effective method to enhance the performance of Si-based materials. However, the general strategy ignores the severe side reaction that originates from the penetration of the fluoride anion which influences the stability of the SEI. In this work, an analytical method is established to study the chemical reaction mechanism between the silicon and electrolyte by combining X-ray diffraction (XRD) with mass spectrometry (MS) technology.

AR ubiquitination induced by the curcumin analog suppresses growth of temozolomide-resistant glioblastoma through disrupting GPX4-Mediated redox homeostasis.

Drug resistance is the main obstacle in the improvement of chemotherapeutic efficacy in glioblastoma. Previously, we showed that dehydroepiandrosterone (DHEA), one kind of androgen/neurosteroid, potentiates glioblastoma to acquire resistance through attenuating DNA damage. Androgen receptor (AR) activated by DHEA or other types of androgen was reported to promote drug resistance in prostate cancer.

Chemopreventive Effect of Phytosomal Curcumin on Hepatitis B Virus-Related Hepatocellular Carcinoma in A Transgenic Mouse Model.

Chronic hepatitis B virus (HBV) infection is a major risk factor for the development of hepatocellular carcinoma (HCC), a leading cause of cancer mortality worldwide. Hepatitis B X protein (HBx) and pre-S2 mutant have been proposed as the two most important HBV oncoproteins that play key roles in HCC pathogenesis. Curcumin is a botanical constituent displaying potent anti-inflammatory and anti-cancer properties without toxic side effects.

Silicon Carbide as a Protective Layer to Stabilize Si-Based Anodes by Inhibiting Chemical Reactions.

Developing a practical silicon-based (Si-based) anode is a precondition for high-performance lithium-ion batteries. However, the chemical reactivity of the Si renders it liable to be consumed, which must be completely understood for it to be used in practical battery systems. Here, a fresh and fundamental mechanism is proposed for the rapid failure of Si-based materials.

Effect of omega 3 fatty acids on C-reactive protein and interleukin-6 in patients with advanced nonsmall cell lung cancer.

This study investigated the anti-inflammatory effects of omega 3 fatty acids (O3FAs) for patients with advanced nonsmall cell lung cancer (ANSCLC).A total of 137 patients with ANSCLC were included in this study. Of those, 77 patients underwent O3FA and were assigned to a treatment group, while 60 patients did not receive it, and were assigned to a control group.

Positive feedback regulation between IL10 and EGFR promotes lung cancer formation.

The role of IL10 in the tumorigenesis of various cancer types is still controversial. Here, we found that increased IL10 levels are correlated with a poor prognosis in lung cancer patients. Moreover, IL10 levels were significantly increased in the lungs and serum of EGFRL858R- and Kras4bG12D-induced lung cancer mice, indicating that IL10 might facilitate lung cancer tumorigenesis.

Theoretical investigation of the aromaticity and electronic properties of protonated and unprotonated molecules in the series hexaphyrin(1.0.0.1.0.0) to hexaphyrin(1.1.1.1.1.1).

A series of hexaphyrins with different meso-carbon atoms and their protonated structures were investigated using density functional theory (DFT) and time-dependent DFT. Frontier molecular orbitals (FMOs), aromaticity, and electronic spectra were investigated systematically before and after protonation. The FMO energy gaps before and after protonation were different for the antiaromatic molecules, while they were only slightly different for the aromatic molecules.

Draft genome of Myxosarcina sp. strain GI1, a baeocytous cyanobacterium associated with the marine sponge Terpios hoshinota.

To date, genome sequences (complete or in draft form) from only six baeocytous cyanobacteria in four genera have been reported: Xenococcus, Chroococcidiopsis, Pleurocapsa, and Stanieria. To expand our knowledge on the diversity of baeocytous cyanobacteria, this study sequenced the genome of GI1, which is a Myxosarcina-like baeocytous cyanobacterium. GI1 is of interest not only because of its phylogenetic niche, but also because it is a cyanobiont isolated from the marine cyanobacteriosponge Terpios hoshinota, which has been shown to cause the death of corals.

Econazole Nitrate Induces Apoptosis in MCF-7 Cells via Mitochondrial and Caspase Pathways.

Econazole nitrate (EN), a synthetic compound, is now in use as a routine antifungal drug. EN was shown to have antitumor effect, the tumor cell killing mechanisms, however, remain unclear. In this research, the apoptosis-inducing effect of EN on MCF-7 cells was investigated.

Energy barrier at the N719-dye/CsSnI₃ interface for photogenerated holes in dye-sensitized solar cells.

This report is to address the question if black γ-polymorph of cesium tin tri-iodide (B-γ-CsSnI3) can be used as a solid-state hole-transport material in the conventional DSSCs with the N719 dye to replace the liquid electrolyte as reported by I. Chung et al. on Nature 485, 486, (2012).

OMACC: an Optical-Map-Assisted Contig Connector for improving de novo genome assembly.

Background: Genome sequencing and assembly are essential for revealing the secrets of life hidden in genomes. Because of repeats in most genomes, current programs collate sequencing data into a set of assembled sequences, called contigs, instead of a complete genome. Toward completing a genome, optical mapping is powerful in rendering the relative order of contigs on the genome, which is called scaffolding.

Effects of GC bias in next-generation-sequencing data on de novo genome assembly.

Next-generation-sequencing (NGS) has revolutionized the field of genome assembly because of its much higher data throughput and much lower cost compared with traditional Sanger sequencing. However, NGS poses new computational challenges to de novo genome assembly. Among the challenges, GC bias in NGS data is known to aggravate genome assembly.

Ethyl cyanoacetate: a new cyanating agent for the palladium-catalyzed cyanation of aryl halides.

A new Pd-catalyzed cyanation reaction has been discovered using ethyl cyanoacetate as the cyanating reagent. A variety of electron-rich and electron-deficient aryl halides were efficiently converted into their corresponding nitriles in good to excellent yields.

Short-term effects of compost amendment on the fractionation of cadmium in soil and cadmium accumulation in rice plants.

Purpose: We used a sequential extraction to investigate the effects of compost amendment on Cd fractionation in soil during different incubation periods in order to assess Cd stabilization in soil over time.

Methods: Pot experiments using rice plants growing on Cd-spiked soils were carried out to evaluate the influence of compost amendment on plant growth and Cd accumulation by rice. Two agricultural soils (Pinchen and Lukang) of Taiwan were used for the experiments.