Detection of hemophilia A genetic variants using third-generation long-read sequencing.

Background: Hemophilia A (HA) is an X-linked recessive genetic disorder caused by pathogenic variations of the factor VIII -encoding gene, F8 gene. Due to the large size and diverse types of variations in the F8 gene, causative mutations in F8 cannot be simultaneously detected in one step by traditional molecular analysis, and genetic molecular diagnosis and prenatal screening of HA still face significant difficulties and challenges in clinical practice. Therefore, we aimed to develop and validate an efficient, accurate, and time-saving method for the genetic detection of HA.

Third-generation sequencing for genetic disease.

Third-generation sequencing (TGS) has led to a brave new revolution in detecting genetic diseases over the last few years. TGS has been rapidly developed for genetic disease applications owing to its significant advantages such as long read length, rapid detection, and precise detection of complex and rare structural variants. This approach greatly improves the efficiency of disease diagnosis and complements the shortcomings of short-read sequencing.

Association between total bilirubin/Albumin ratio and all-cause mortality in acute kidney injury patients: A retrospective cohort study.

Background: The association between the total bilirubin/albumin (B/A) and the all-cause mortality of critically ill patients with acute kidney injury (AKI) remains unclear. This retrospective study aimed to investigate the relationship between B/A ratio and mortality in patients with AKI.

Methods: The clinical data of AKI patients in the Medical Information Mart for Intensive Care III (MIMIC-III) database were retrospectively analyzed.

Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the gene: a case report and literature review.

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the impact of variants on the severity of non-syndromic enlarged vestibular aqueduct. A male patient with NSEVA, aged approximately 6 years, was recruited for this study.

Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature.

Familial chylomicronemia syndrome (FCS) caused by mutations of lipoprotein lipase (LPL) gene and other triglyceride-rich lipoprotein genes related with catabolism is an autosomal recessive rare disease. Herein, we report an infant with FCS and review the relevant literature. The proband is a male infant with FCS for which the whole-exome sequencing (WES), sanger sequencing and copy number variation (CNV) based on WES were performed.

The prevalence of hyperuricemia and its correlates in Zhuang nationality, Nanning, Guangxi Province.

Background: Hyperuricemia has an increasing incidence in various regions year by year, in this study, we evaluated the prevalence of hyperuricemia in a routine physical examination in Nanning, Guangxi Province, and analyzed the influencing factors of hyperuricemia, aiming to provide evidence for the prevention and treatment of hyperuricemia and related diseases.

Methods: Data were collected from 1957 patients who underwent physical examinations at the First Affiliated Hospital of Guangxi Medical University in China since 2017. Questionnaires were structured, including subjects' demographics, lifestyle, personal history, chronic disease history, medication history, etc.

Circulating exosomal miR-125a-5p as a novel biomarker for cervical cancer.

Exosomal microRNAs (miRs/miRNAs) have been reported to be associated with cervical cancer. The aim of the present study was to investigate circulating exosomal miRNA as a biomarker for cervical cancer diagnosis. In the present study, samples from 6 patients with cervical cancer and 6 healthy control subjects were retrieved for exosomal RNA-sequencing.

Simulated solar light driven Fe(III)/Fe(II) redox cycle for roxarsone degradation and simultaneous arsenate immobilization.

Organoarsenicals remediation requires degrading organoarsenicals and simultaneously immobilizing the resulted inorganic arsenic, and is thus a great challenge. In this study, a simulated solar light driven Fe(III)/Fe(II) cycle strategy was developed to degrade roxarsone and immobilize the generated inorganic arsenic via tuning the degree of Fe(III) hydrolysis. At pH values of 2.

Enhanced silver loaded antibacterial titanium implant coating with novel hierarchical effect.

In this study, we present a novel strategy for hierarchical antibacterial implant coating by controlling structural and componential features as regulators of surface bactericidal property. Anodized titanium dioxide nanotubes and self-polymerized polydopamine were both used as preliminary antibacterial agents with a significant positive effect on surface bioactivity. At the same time, the storage capacity of nanotubes and the in situ reduction activity of polydopamine can introduce large amounts of strong attached silver nanoparticles for enhanced stable antibacterial performance.

Effect of Nanosized NbC Precipitates on Hydrogen Diffusion in X80 Pipeline Steel.

In this paper, the effects of dispersed 3~10 nm NbC precipitates on hydrogen diffusion in X80 pipeline steel were investigated by means of high resolution transmission electron microscopy (HRTEM), electrochemical hydrogen permeation, and thermal desorption spectroscopy (TDS). The relationship between hydrogen diffusion and temperature was determined for Nb-free X80 and 0.055 wt% Nb X80 steel.

Alkalescent nanotube films on a titanium-based implant: A novel approach to enhance biocompatibility.

The interfacial pH value has a marked effect on cell viability because the pro-mineralization activity of osteoblasts increases at alkaline extracellular pH, whereas the pro-resorptive activity of osteoclasts increases under more acidic conditions. To obtain the more favorable alkaline interface, we developed a novel nanotube layer that was incorporated with magnesium oxide on a titanium implant substrate (MgO/NT/Ti) via ethylenediamine tetraacetic acid (EDTA) chelation. This facile immersion-annealing process successfully created a homogeneous magnesium oxide layer with sustained release kinetics and superior hydrophilicity according to the surface characterization and microenvironment measurement.

Investigation on the mechanism of nanodamage and nanofailure for single ZnO nanowires under an electric field.

The electrical service behavior of ZnO nanowires (NWs) with various diameters was investigated by a nanomanipulation technique. The nanodamage and nanofailure phenomena of the ZnO NWs were observed when external voltages were applied. The threshold voltages of the ZnO NWs increased linearly from 15 to 60 V with increasing diameter.

In situ transmission electron microscopy investigation on fatigue behavior of single ZnO wires under high-cycle strain.

The fatigue behavior of ZnO nanowires (NWs) and microwires was systematically investigated with in situ transmission electron microscopy electromechanical resonance method. The elastic modulus and mechanical quality factors of ZnO wires were obtained. No damage or failure was found in the intact ZnO wires after resonance for about 10(8)-10(9) cycles, while the damaged ZnO NW under electron beam (e-beam) irradiation fractured after resonance for seconds.

Single ZnO nanotetrapod-based sensors for monitoring localized UV irradiation.

Single ZnO nanotetrapod-based sensors for monitoring localized UV irradiation were constructed with ohmic and Schottky contact characteristics. Localized UV irradiation at the third leg of the tetrapod was monitored by measuring the sensor's current response. Measurements of I-V performances and time-resolved current were conducted.

An excellent enzymatic lactic acid biosensor with ZnO nanowires-gated AlGaAs/GaAs high electron mobility transistor.

An excellent biosensor with ZnO nanowires-gated AlGaAs/GaAs high electron mobility transistor (HEMT) was used to detect lactic acid. Due to the new structure, addition of the Si-doped GaAs cap layer, the HEMT biosensor could detect a wide range of lactic acid concentrations from 0.03 nM to 300 mM.

Study on the electron emission properties of ZnO nanorod arrays on different substrates.

Large area well-aligned ZnO nanorod arrays on different substrates were synthesized by hydrothermal methods. The electron emission properties of the ZnO nanorod arrays on different substrates were investigated under both direct current (DC) and pulse electric fields. Owing to the excellent conductivity of substrates, the array on stainless steel substrate had better electron emission properties than that on silicon substrate.

Effect of surface modifications on ZnO nanorod arrays electrode for dye-sensitized solar cells.

High quality, large area and well-oriented ZnO nanorod arrays electrodes were successfully synthesized on conductive transparent oxide substrates by low-temperature hydrothermal methods for dye-sensitized solar cells. Aiming at getting further enhancement and study the effect of the surface modification on cell performance, ZnO thin film and ZnO nanoparticles are carried out to modify the as-grown ZnO nanorod arrays. The morphology, structure and photoluminescence property of the modified ZnO electrodes are characterized in detail.

Scanning probe study on the piezotronic effect in ZnO nanomaterials and nanodevices.

ZnO nanomaterials with their unique semiconducting and piezoelectric coupled properties have become promising materials for applications in piezotronic devices including nanogenerators, piezoelectric field effect transistors, and diodes. This article will mainly introduce the research progress on piezotronic properties of ZnO nanomaterials investigated by scanning probe microscopy (SPM) and ZnO-based prototype piezotronic nanodevices built in virtue of SPM, including piezoelectric field effect transistors, piezoelectric diodes, and strain sensors. Additionally, nanodamage and nanofailure of ZnO materials and their relevant piezotronic nanodevices will be critically discussed in their safe service in future nanoelectromechanical system (NEMS) engineering.

Investigation on the Plasma-Induced Emission Properties of Large Area Carbon Nanotube Array Cathodes with Different Morphologies.

Large area well-aligned carbon nanotube (CNT) arrays with different morphologies were synthesized by using a chemical vapor deposition. The plasma-induced emission properties of CNT array cathodes with different morphologies were investigated. The ratio of CNT height to CNT-to-CNT distance has considerable effects on their plasma-induced emission properties.

Electronic transport properties of In-doped ZnO nanobelts with different concentration.

In this paper, zinc oxide (ZnO) nanobelts with five different indium (In) concentrations (1.98, 2.73, 3.

Facile synthesis of highly uniform Mn/Co-codoped ZnO nanowires: optical, electrical, and magnetic properties.

In this article, Co/Mn-codoped ZnO nanowires (NWs) were successfully synthesized on a silicon substrate by the thermal evaporation method with Au catalyst. The X-ray diffraction pattern indicated that the Co/Mn-codoped ZnO NWs are a hexagonal wurtzite structure without a second phase, and energy dispersive X-ray spectroscopy revealed that the Co and Mn ions were introduced into the ZnO NWs with the content of ∼0.8 at% and ∼1.

Transverse piezoelectric field-effect transistor based on single ZnO nanobelts.

A transverse piezoelectric field-effect transistor (TP-FET) based on single ZnO nanobelts has been fabricated on a metallic graphite substrate in an atomic force microscope (AFM). The source-to-drain current of the TP-FET was found to decrease with increasing loading force under a positive bias due to the carrier-trapping effect and the creation of a charge-depletion zone. This TP-FET can be applied as a force/pressure sensor for measuring nanoNewton forces ranged from 0 to 700 nN.

[The change of intestinal mucosa barrier in chronic severe hepatitis B patients and clinical intervention].

Objective: To study the change of intestinal mucosa barrier in chronic severe hepatitis B patients and clinical intervention.

Method: (1) 30 normal healthy controls and 60 chronic severe hepatitis B patients were enrolled in this study. The change of intestinal permeability was determined by urine lactulose/ mannitol ratio (L/M), and the serum diamine oxidase (DAO) was measured.