Publications by authors named "Xiaoqing Lv"

Variants in HSPB8 are predominantly associated with peripheral neuropathies, but their occurrence in myopathies remains exceedingly rare. The genetic and clinical spectrum of HSPB8-related myopathy is not yet complete. Herein, we not only described the first Chinese case of HSPB8-related myopathy characterized by a novel heterozygous frameshift variant (c.

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  • Limb-girdle muscular dystrophy R7 is a genetic disorder caused by mutations in the TCAP gene, leading to the absence of the protein telethonin and resulting in muscle weakness and mitochondrial dysfunction.
  • The research involves a Tcap-deficient mouse model to study the disease's mechanisms and potential treatments, using various experimental techniques like immunofluorescence and proteomics.
  • Findings reveal that telethonin is essential for maintaining desmin integrity and proper mitochondrial distribution, and experiments also explore gene therapy using adeno-associated virus to deliver the Tcap gene.
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  • The study investigates immune checkpoint inhibitor (ICI)-induced Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), aiming to identify unique clinical features and mechanisms compared to non-ICI-induced cases.
  • It analyzed 41 ICI-induced SJS/TEN cases against 107 non-ICI cases, revealing ICI cases often have a longer latency period, a smaller body surface area affected, and less severe mucositis.
  • The research suggests that PD-1 inhibitors are primarily responsible for these reactions, with a mortality rate of 24.5%, offering insights into treatment approaches and the underlying immune mechanisms involved.
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Dual-mode-based sensors have drawn a lot of interest due to their high accuracy and sensitivity compared to single-response systems. A simple electrochemical and colorimetric dual-mode sensor based on enzyme-linked immunosorbent assay (ELISA), without complex electrode surface modification, was developed for accurate and sensitive detection of carcinoembryonic antigen (CEA). The target CEA is recognized by an antibody coupled to horseradish peroxidase (HRP), which then oxidizes the substrate 3,3',5,5'-tetramethylbenzidine (TMB) to generate both a colorimetric and an electrochemical signal.

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Background: GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the gene, which is essential for the sialic acid biosynthesis pathway.

Objective: This multi-centre study aimed to delineate the clinical phenotype and variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different populations.

Methods: We retrospectively analysed variants from 113 patients, integrating these data with external variants from online databases for a global perspective, examining their consequences, distribution, ethnicity and severity.

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Here, we describe an iron-catalyzed benzylic C-H thiolation of alkylarenes photoinduced ligand-to-metal charge-transfer. The protocol features operational simplicity, mild reaction conditions, and the use of FeCl as catalyst and thiols/disulfides as sulfur sources, which enables the transformation of diverse benzylic C-H bonds into C-S bonds with a high efficiency.

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Exosomes are becoming more widely acknowledged as significant circulating indicators for the prognosis and diagnosis of cancer. Circulating exosomes are essential to the development and spread of cancer, according to a growing body of research. Using existing technology, characterizing exosomes is quite difficult.

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Sensitive, accurate, and straightforward biosensors are pivotal in the battle against Alzheimer's disease, particularly in light of the escalating patient population. These biosensors enable early adjunctive diagnosis, thereby facilitating prompt intervention, alleviating socioeconomic burdens, and preserving individual well-being. In this study, we introduce the development of a highly sensitive add-drop dual-microring resonant microfluidic sensing chip boasting a sensitivity of 188.

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  • Anticancer drugs can cause serious skin reactions like Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), and there's an ongoing debate about the best treatment methods, particularly the role of corticosteroids versus TNF-alpha inhibitors like adalimumab.
  • This study reviewed cases of SJS/TEN linked to anticancer drugs from 1992 to 2023, comparing outcomes between patients treated with adalimumab and those receiving corticosteroids alone.
  • Results showed that combining adalimumab with corticosteroids significantly improved healing times and reduced mortality rates compared to corticosteroid monotherapy, suggesting that this combination could be a safer and more effective treatment for severe skin reactions caused by anticancer therapies
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Silicon photonic-based refractive index sensors are of great value in the detection of gases, biological and chemical substances. Among them, microring resonators are the most promising due to their compact size and narrow Lorentzian-shaped spectrum. The electric field in a subwavelength grating waveguide (SWG) is essentially confined in the low-refractive index dielectric, favoring enhanced analyte-photon interactions, which represents higher sensitivity.

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As Alzheimer's disease prevalence continues to rise, there is an increasing demand for efficient on-chip biosensors capable of early biomarker detection. This study presents a novel biosensor chip leveraging vertical cavity surface emitting laser (VCSEL) technology, with Parylene C serving as the antibody coupling layer and utilizing a streamlined one-step antibody modification method. Integration of Parylene C enhances chip sensitivity from 34.

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In this study, a platform for a welding experiment, used to collect input and output electrical signals, was constructed, and the algorithm for the input pulsating energy interpolation line (IPEI) was given. Experiments with MAG surface straight line welding were conducted at various voltages. Analysis of the IPEI in relation to the welding current was performed while combining real-world welding occurrences with high-speed camera images of droplet transfer.

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The electrocatalytic nitrite/nitrate reduction reaction (eNORR/eNORR) offer a promising route for green ammonia production. The development of low cost, highly selective and long-lasting electrocatalysts for eNORR/eNORR is challenging. Herein, a method is presented for constructing CuP-FeP heterostructures on iron foam (CuFe-P/IF) that facilitates the effective conversion of NO and NO to NH.

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As important substrates for the construction of heterocycles, a simple and efficient approach for synthesis of 1,4-diones is highly desirable. In this work, novel and efficient electrochemical radical reactions of enol acetates and 1,3-diketones have been developed to successfully achieve 1,4-diketones under catalyst-free and oxidant-free conditions. The wide range of substrates, good group tolerance, and simple operation process make the approach have important practical value.

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Developing cell cryopreservation methods on chips is not only crucial for biomedical science but also represents an innovative approach for preserving traditional cell samples. This study presents a simple method for direct cell freezing and thawing on chip, allowing for long-term storage of cells. During the freezing process, cells were injected into the microchannel along with a conventional cell cryopreservation solution, and the chip was packed using a self-sealing bag containing isopropyl alcohol and then stored in a -80°C refrigerator until needed.

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Recently, PI3K and HDAC have been considered as promising targets for the cancer therapy. A couple of pan-PI3K/HDAC dual inhibitors have been developed as a new class of anticancer agents. Herein, we discovered a new series of (S)-N-(thiazol-2-yl) pyrrolidine-1,2-dicarboxamide derivatives targeting PI3Kα/HDAC6.

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A metal-free Meerwein arylation reaction from aryl(alkyl)idenemalononitriles and diazonium salts for the synthesis of 2-(aryl(alkyl)/arylmethylene)malononitrile derivatives under mild conditions was well developed. Different from the general addition reactions between alkenes and diazonium salts, this study performed the traditional coupling reaction for the formation of C(sp)-C(sp) bond arylation products. The radical reaction mechanism was well verified in the control experiments.

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The utilization of proximity-mediated effects to perturb pathogenic proteins of interest (POIs) has emerged as a powerful strategic alternative to conventional drug design approaches based on target occupancy. Over the past three years, the burgeoning field of targeted protein degradation (TPD) has witnessed the expansion of degradable POIs to membrane-associated, extracellular, proteasome-resistant, and even microbial proteins. Beyond TPD, researchers have achieved the proximity-mediated targeted protein stabilization, the recruitment of intracellular immunophilins to disturb undruggable targets, and the nonphysiological post-translational modifications of POIs.

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Mutations in the TTN gene have been reported to be responsible for a range of neuromuscular disorders, including recessive distal myopathy and congenital myopathy (CM). Only five splicing mutations have been identified to induce aberrant mRNA splicing in TTN-related neuromuscular disorders. In our study, we described detailed clinical characteristics, muscle pathology and genetic analysis of two probands with TTN-related autosomal recessive neuromuscular disorders.

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Limb-girdle muscular dystrophy R7 (LGMDR7) is an autosomal recessive hereditary muscular dystrophy caused by mutations in titin-cap (TCAP). Here, we summarized the clinical characteristics and TCAP mutations in a Chinese cohort of 30 patients with LGMDR7. The onset age of Chinese patients was 19.

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The nanoplasmonic sensor of the nanograting array has a remarkable ability in label-free and rapid biological detection. The integration of the nanograting array with the standard vertical-cavity surface-emitting lasers (VCSEL) platform can achieve a compact and powerful solution to provide on-chip light sources for biosensing applications. Here, a high sensitivity and label-free integrated VCSELs sensor was developed as a suitable analysis technique for COVID-19 specific receptor binding domain (RBD) protein.

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Sensitive, rapid, and easy-to-implement biosensors are critical in responding to highly contagious and fast-spreading severe acute respiratory syndrome coronavirus (SARS-CoV-2) mutations, enabling early infection screening for appropriate isolation and treatment measures to prevent the spread of the virus. Based on the sensing principle of localized surface plasmon resonance (LSPR) and nanobody immunological techniques, an enhanced sensitivity nanoplasmonic biosensor was developed to quantify the SARS-CoV-2 spike receptor-binding domain (RBD) in serum within 30 min. The lowest concentration in the linear range can be detected down to 0.

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Background: Family resilience plays a crucial role in protecting the mental health and family stability of infertile patients. However, information associated with infertile families resilience is scarce. The double ABC-X model provides a roadmap for this, helps organize knowledge, and lays the foundation for knowledge development.

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"Laminopathies" refers to a wide spectrum of myopathies caused by mutations in the LMNA gene. These myopathies include limb girdle muscular dystrophy type 1B (LGMD1B) and dilated cardiomyopathy 1 A (DCM1A), which are both autosomal dominant neurogenetic diseases. There have been few studies on mosaicism in laminopathies.

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