Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

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.

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene deep intronic variant c.862 + 870C>T and c.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population.

A predictive nomogram for short-term outcomes of myasthenia gravis patients treated with low-dose rituximab.

Background: This study aims to establish and validate a predictive nomogram for the short-term clinical outcomes of myasthenia gravis (MG) patients treated with low-dose rituximab.

Methods: We retrospectively reviewed 108 patients who received rituximab of 600 mg every 6 months in Huashan Hospital and Tangdu Hospital. Of them, 76 patients from Huashan Hospital were included in the derivation cohort to develop the predictive nomogram, which was externally validated using 32 patients from Tangdu Hospital.

Customizable Organic Charge-Transfer Cocrystals for the Dual-Mode Optoelectronics in the NIR (II) Window.

Organic molecules have been regarded as ideal candidates for near-infrared (NIR) optoelectronic active materials due to their customizability and ease of large-scale production. However, constrained by the intricate molecular design and severe energy gap law, the realization of optoelectronic devices in the second near-infrared (NIR (II)) region with required narrow band gaps presents more challenges. Herein, we have originally proposed a cocrystal strategy that utilizes intermolecular charge-transfer interaction to drive the redshift of absorption and emission spectra of a series BFTQ ( = 0, 1, 2, 4) cocrystals, resulting in the spectra located at NIR (II) window and reducing the optical bandgap to ∼0.

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.

Introduction/aims: GNE myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the GNE gene, which is essential for the sialic acid biosynthesis pathway. Although over 300 GNE variants have been reported, some patients remain undiagnosed with monoallelic pathogenic variants. This study aims to analyze the entire GNE genomic region to identify novel pathogenic variants.

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Surveys and retrospective studies have revealed considerable delays in diagnosing late-onset Pompe disease (LOPD) in China, where the contributing factors remain poorly represented. Our study analyzed the diagnostic journey of 34 LOPD patients seen at our neuromuscular clinic from 2005 to 2022. We defined diagnostic delay as the time from the onset of the first relevant symptoms and laboratory findings suggestive of LOPD to the eventual diagnosis, and we constructed a correlation matrix to assess relationships among these variables.

Non-coding CGG repeat expansion in is associated with a phenotype of oculopharyngodistal myopathy.

Background: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease, associated with CGG repeat expansions in the 5' untranslated region of , , and . However, the genetic cause of a proportion of pathoclinically confirmed cases remains unknown.

Methods: A total of 26 OPDM patients with unknown genetic cause(s) from 4 tertiary referral hospitals were included in this study.

Video Global Motion Compensation Based on Affine Inverse Transform Model.

Global motion greatly increases the number of false alarms for object detection in video sequences against dynamic backgrounds. Therefore, before detecting the target in the dynamic background, it is necessary to estimate and compensate the global motion to eliminate the influence of the global motion. In this paper, we use the SURF (speeded up robust features) algorithm combined with the MSAC (M-Estimate Sample Consensus) algorithm to process the video.

Two-Dimensional Optical Waveguides at Telecom Wavelengths Based on Organic Single-Crystal Microsheets of a Charge Transfer Complex.

Organic charge transfer (CT) cocrystals open a new door for the exploitation of low-dimensional near-infrared (NIR) emitters by a convenient self-assembly approach. However, research about the fabrication of sheet-like NIR-emitting microstructures that are significant for structural construction and integrated application is limited by the unidirectional molecular packing mode. Herein, via regulation of the biaxial intermolecular CT interaction, single-crystalline microsheets with remarkable NIR emission from 720 to 960 nm were synthesized via the solution self-assembly process of dithieno[3,2-:2',3'-]thiophene and 7,7,8,8-tetracyanoquinodimethane.

Multifunctional tendon-mimetic hydrogels.

We report multifunctional tendon-mimetic hydrogels constructed from anisotropic assembly of aramid nanofiber composites. The stiff nanofibers and soft polyvinyl alcohol in these anisotropic composite hydrogels (ACHs) mimic the structural interplay between aligned collagen fibers and proteoglycans in tendons. The ACHs exhibit a high modulus of ~1.

Infiltration from Suspension Systems Enables Effective Modulation of 3D Scaffold Properties in Suspension Bioprinting.

Bioprinting is a biofabrication technology which allows efficient and large-scale manufacture of 3D cell culture systems. However, the available biomaterials for bioinks used in bioprinting are limited by their printability and biological functionality. Fabricated constructs are often homogeneous and have limited complexity in terms of current 3D cell culture systems comprising multiple cell types.

Membrane Repairing Capability of Non-Small Cell Lung Cancer Cells Is Regulated by Drug Resistance and Epithelial-Mesenchymal-Transition.

The plasma membrane separates the interior of the cells from the extracellular fluid and protects the cell from disruptive external factors. Therefore, the self-repairing capability of the membrane is crucial for cells to maintain homeostasis and survive in a hostile environment. Here, we found that micron-sized membrane pores induced by cylindrical atomic force microscope probe puncture resealed significantly (~1.

The Effect of the Nanoparticle Shape on T Cell Activation.

The mechanism of extracellular ligand nano-geometry in ex vivo T cell activation for immunotherapy remains elusive. Herein, the authors demonstrate large aspect ratio (AR) of gold nanorods (AuNRs) conjugated on cell culture substrate enhancing both murine and human T cell activation through the nanoscale anisotropic presentation of stimulatory ligands (anti-CD3(αCD3) and anti-CD28(αCD28) antibodies). AuNRs with large AR bearing αCD3 and αCD28 antibodies significantly promote T cell expansion and key cytokine secretion including interleukin-2 (IL-2), interferon-gamma (IFN-γ), and tumor necrosis factor-alpha (TNF-α).

Rapid Plastic Deformation of Cancer Cells Correlates with High Metastatic Potential.

Metastasis plays a crucial role in tumor development, however, lack of quantitative methods to characterize the capability of cells to undergo plastic deformations has hindered the understanding of this important process. Here, a microfluidic system capable of imposing precisely controlled cyclic deformation on cells and therefore probing their viscoelastic and plastic characteristics is developed. Interestingly, it is found that significant plastic strain can accumulate rapidly in highly invasive cancer cell lines and circulating tumor cells (CTCs) from late-stage lung cancer patients with a characteristic time of a few seconds.

Microscopic local stiffening in a supramolecular hydrogel network expedites stem cell mechanosensing in 3D and bone regeneration.

Dynamic hydrogels cross-linked by weak and reversible physical interactions enhance the 3-dimensional (3D) spreading and mechanosensing abilities of encapsulated cells in a matrix. However, the highly dynamic nature of these physical cross-links also results in low mechanical stiffness in the hydrogel network and high tether compliance of the cell adhesion motifs attached to the network. The resulting low force feedback of the soft hydrogel network impedes the efficient activation of mechanotransduction signalling in the encapsulated cells.

Modelling Nuclear Morphology and Shape Transformation: A Review.

As one of the most important cellular compartments, the nucleus contains genetic materials and separates them from the cytoplasm with the nuclear envelope (NE), a thin membrane that is susceptible to deformations caused by intracellular forces. Interestingly, accumulating evidence has also indicated that the morphology change of NE is tightly related to nuclear mechanotransduction and the pathogenesis of diseases such as cancer and Hutchinson-Gilford Progeria Syndrome. Theoretically, with the help of well-designed experiments, significant progress has been made in understanding the physical mechanisms behind nuclear shape transformation in different cellular processes as well as its biological implications.

Low energy consumption electrically regenerated ion-exchange for water desalination.

A new regeneration method of ion exchange resin named Adjacent Bed Electrically Regenerated Ion-exchange (ABERI) was proposed to eliminate the environmental impact of traditional chemical regeneration and improve the economy of replacing chemical regeneration with electrical regeneration. The desalting operation of ABERI was the same as the conventional mixed bed. When the resins were exhausted, anion and cation resins were separated and then packed in a dedicated regenerator adjacently.

A Novel Electroporation System for Living Cell Staining and Membrane Dynamics Interrogation.

A novel electroporation system was developed to introduce transient membrane pores to cells in a spatially and temporally controlled manner, allowing us to achieve fast electrotransfection and live cell staining as well as to systematically interrogate the dynamics of the cell membrane. Specifically, using this platform, we showed that both reversible and irreversible electroporation could be induced in the cell population, with nano-sized membrane pores in the former case being able to self-reseal in ~10 min. In addition, green fluorescent protein(GFP)-vinculin plasmid and 543 phalloidin have been delivered successively into fibroblast cells, which enables us to monitor the distinct roles of vinculin and F-actin in cell adhesion and migration as well as their possible interplay during these processes.

Sr/PTA Metal Organic Framework as A Drug Delivery System for Osteoarthritis Treatment.

A Sr-based metal-organic framework (MOF) is introduced as ketoprofen carrier to form a comprehensive system for treating osteoarthritis (OA), and the drug loading amount and release rate is investigated. Structural characterization of the samples showed that Sr/PTA-MOF had good crystal morphology and structure, and chemical and thermal stability. Ketoprofen was successfully loaded on the MOF carrier, which had been identified by high performance liquid chromatography (HPLC) and thermogravimetric analysis (TGA).

Strontium chondroitin sulfate/silk fibroin blend membrane containing microporous structure modulates macrophage responses for guided bone regeneration.

A membrane used for guided bone regeneration (GBR) serves as a bioactive compartment rather than a physical barrier. However, the pure membrane may not provide an optimal microenvironment for bone formation and remodeling. Here, a novel strontium chondroitin sulfate/silk fibroin (SrCS/SF) blend membrane containing microporous structure was fabricated.