Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1.

Pontocerebellar Hypoplasia (PCH) is a rare autosomal recessive hereditary neurological degenerative disease. To elaborate upon the clinical phenotypes of PCH and explore the correlation between gene mutations and clinical phenotype, we analyze the clinical and genetic features of a Chinese infant afflicted with pontocerebellar dysplasia accompanied by gender reversal with bioinformatics methods. The main clinical features of this infant with gene mutation included progressive lateral ventricle widening, hydrocephalus, severe postnatal growth retardation, and hypotonia, and simultaneously being accompanied by 46, XY female sex reversal.

Genetic algorithm-based semisupervised convolutional neural network for real-time monitoring of Escherichia coli fermentation of recombinant protein production using a Raman sensor.

As a non-destructive sensing technique, Raman spectroscopy is often combined with regression models for real-time detection of key components in microbial cultivation processes. However, achieving accurate model predictions often requires a large amount of offline measurement data for training, which is both time-consuming and labor-intensive. In order to overcome the limitations of traditional models that rely on large datasets and complex spectral preprocessing, in addition to the difficulty of training models with limited samples, we have explored a genetic algorithm-based semi-supervised convolutional neural network (GA-SCNN).

Bioorthogonal Functionalization of Material Surfaces with Bioactive Molecules.

The functionalization of material surfaces with biologically active molecules is crucial for enabling technologies in life sciences, biotechnology, and medicine. However, achieving biocompatibility and bioorthogonality with current synthetic methods remains a challenge. We report herein a novel surface functionalization method that proceeds chemoselectively and without a free transition metal catalyst.

Non-coding RNA in cancer drug resistance: Underlying mechanisms and clinical applications.

Cancer is one of the most frequently diagnosed malignant diseases worldwide, posing a serious, long-term threat to patients' health and life. Systemic chemotherapy remains the first-line therapeutic approach for recurrent or metastatic cancer patients after surgery, with the potential to effectively extend patient survival. However, the development of drug resistance seriously limits the clinical efficiency of chemotherapy and ultimately results in treatment failure and patient death.

SUMOylation of SYNJ2BP-COX16 promotes breast cancer progression through DRP1-mediated mitochondrial fission.

Treatments targeting oncogenic fusion proteins are notable examples of successful drug development. Abnormal splicing of genes resulting in fusion proteins is a critical driver of various tumors, but the underlying mechanism remains poorly understood. Here, we show that SUMOylation of the fusion protein Synaptojanin 2 binding protein-Cytochrome-c oxidase 16 (SYNJ2BP-COX16) at K107 induces mitochondrial fission in breast cancer and that the K107 site regulates SYNJ2BP-COX16 mitochondrial subcellular localization.

pH Stimuli-Responsive, Rapidly Self-healable Coatings Enhanced the Corrosion Resistance and Osteogenic Differentiation of Mg-1Ca Osteoimplant.

Mg-Ca alloys have emerged as a promising research direction for biomedical implants in the orthopedic field. However, their clinical use is deterred by their fast corrosion rate. In this work, a pH stimuli-responsive silk-halloysite (HNT)/phytic acid (PA) self-healing coating (Silk-HNT/PA) is constructed to slow down the corrosion rate of Mg-1Ca alloy and its cell viability and osteogenic differentiation ability are enhanced.

Mussel bioinspired morphosynthesis of substrate anchored core-shell silver self-assemblies with multifunctionality for bioapplications.

Core-shell nanoparticles (CSNs) have numerous intriguing properties for advanced device applications, while it remains challenging to directly grow them from a solid substrate. Here, we report a simple mussel-bioinspired solid chemistry strategy for in-situ synthesis of CSNs that are substrate anchored and morphologically tunable for wide-ranging biotechnological applications. Briefly, silver titanate was hydrothermally grown on template titanium and subjected to reaction with mussel-derived dopamine.

Catecholamine-Copper Redox as a Basis for Site-Specific Single-Step Functionalization of Material Surfaces.

Realization of robust and facile surface functionalization processes is critical to biomaterials and biotechnology yet remains a challenge. Here, we report a new chemical approach that enables operationally simple and site-specific surface functionalization. The mechanism involves a catechol-copper redox chemistry, where the oxidative polymerization of an alkynyl catecholamine reduces Cu(II) to Cu(I), which catalyzes a click reaction with azide-containing molecules of interest (MOIs).

Controllable biodegradation and enhanced osseointegration of ZrO-nanofilm coated Zn-Li alloy: In vitro and in vivo studies.

Zinc and its alloys have emerged as a new research direction of biodegradable metals (BMs) due to the significant physiological functions of Zn ions in human body. However, low inhibitory concentration threshold value to cause cytotoxicity by Zn ions during in vitro study and delayed osseointegration in vivo are two key flaws for the bulk Zn-based BMs. To combat these issues, we constructed a barrier layer of ZrO nanofilm on the surface of Zn-0.

Osteogenic and pH stimuli-responsive self-healing coating on biomedical Mg-1Ca alloy.

Various coatings have been used to slow down the corrosion rate of biomedical magnesium alloys. However, these coatings usually act only as passive barriers. It is much more desirable to endow such coatings with active, biocorrosion-responsive self-repairing capacity.

A pH-sensitive self-healing coating for biodegradable magnesium implants.

Self-healing coatings have attracted attention on surface modification of magnesium alloys, as it can recover the barrier ability of the coatings from corrosion attack. Nevertheless, previous works on this aspect are not suitable for biomedical magnesium alloys owing to the lack of biocompatibility. In this study, we fabricated a self-healing coating on biomedical Mg-1Ca alloy by compositing silk fibroin and KPO.

Constructing Multilayer Silk Protein/Nanosilver Biofunctionalized Hierarchically Structured 3D Printed Ti6Al4 V Scaffold for Repair of Infective Bone Defects.

Biomaterials-enabled regenerative medicine in orthopedics is challenged with infective bone defects that do not heal normally. Three-dimensional (3D) scaffold biomaterials simultaneously emulating skeletal hierarchy and eliciting sustainable osteogenetic and antibacterial functionalities represent a potent solution holding increasing fascination. Here we describe a simple combinatorial strategy for constructing such scaffolds.

Triple-Bioinspired Burying/Crosslinking Interfacial Coassembly Strategy for Layer-by-Layer Construction of Robust Functional Bioceramic Self-Coatings for Osteointegration Applications.

Coating bioceramics of inherent bioactivity onto biometallic implants is a straightforward yet promising solution to address poor osteointegration of the latter. One step further, it would be a nontrivial accomplishment to develop a mild, cheap, and universal route to firmly stabilizing, in principle, any ceramics onto any implant substrate, while imparting expectedly versatile biofunctional performances. Herein, we describe a triple-bioinspired burying/cross-linking interfacial coassembly strategy for enabling such ceramic coatings, which ingeniously fuses bioinspiration from sea rocks (burying assisted particle immobilization), marine mussels (universal adhesion and versatile chemical reactivity), and reef-building oysters (cross-linking rendered cohesion).

Unraveling the osteogenesis of magnesium by the activity of osteoblasts in vitro.

Magnesium (Mg) alloys, having a unique combination of strength and degradation, are being explored for various craniofacial and orthopedic applications. Nevertheless, the underlying mechanism of Mg to stimulate bone formation needs further investigation. In this in vitro study, the degradation behavior of pure Mg and the effect of Mg on the activity of osteoblasts were elucidated.

Biomimetic Ca, Sr/P-Doped Silk Fibroin Films on Mg-1Ca Alloy with Dramatic Corrosion Resistance and Osteogenic Activities.

Magnesium and its alloys have emerged as some of the most promising biodegradable metals for temporary bone implants, but challenges remain in controlling their corrosion and biocompatibility and endowing them with bioactivity and osteogenic functionality. Herein, we presented newly developed bioactive Ca, Sr/P-containing silk fibroin films (the Ca, Sr/P silk) on top of Mg-1Ca alloy to simultaneously improve the corrosion resistance, osteocompatibility, and osteogenic activities important in maintaining mechanical integrity and stimulating bone formation, respectively. Briefly, extracellular matrix (ECM) mimicking Ca, Sr/P silk fibroin films were constructed layer upon layer on fluoridized Mg-1Ca alloy via simple spinning assembly.

Endowing polyetheretherketone with synergistic bactericidal effects and improved osteogenic ability.

Unlabelled: Biomedical associated infections (BAI) are difficult to treat and may even lead to amputation and death, especially after the emergence of drug-resistant bacteria. The aim of this study was to harness the potential synergistic effects of multiple bactericidal agents to endow polyetheretherketone (PEEK) with the ability of achieving full eradication of planktonic and adherent bacteria while maintaining acceptable biocompatibility. In this work, a mussel inspired, silver nanoparticles (AgNPs) incorporated silk fibroin (SF)/gentamicin sulfate (GS) coating was constructed upon porous PEEK surface.

Novel pH-responsive tobramycin-embedded micelles in nanostructured multilayer-coatings of chitosan/heparin with efficient and sustained antibacterial properties.

To endow orthopaedic implants with satisfactory antibacterial properties, the design and development of antibiotic coating on the surface of implants is highly desired. In this work a novel and facile strategy was developed to form pH-responsive layer-by-layer (LbL) films implanted with polymeric micelles as nano-vehicles loaded with charge-weak antibiotic drugs, enabling high drug loading efficiency. Negatively charged tobramycin (Tob)-embeded heparin miscells (HET) and positively charged chitosan (CHT) were exploited as a pH-responsive LBL multilayer building block, respectively.

Effect of vanadium released from micro-arc oxidized porous Ti6Al4V on biocompatibility in orthopedic applications.

MAO-treated porous Ti6Al4V holds enormous potential for use in orthopedic implants due to their excellent biocompatibility and favourable mechanical strength. However, the effects on the V ion accumulation and release following the MAO-treated Ti6Al4V remain undetermined. The aim of the present study was to assess the effects of Vanadium on biocompatibility.

U-box ubiquitin ligase PPIL2 suppresses breast cancer invasion and metastasis by altering cell morphology and promoting SNAI1 ubiquitination and degradation.

Metastasis is the leading cause of breast cancer fatalities. To develop new therapeutic strategies, the mechanisms underlying breast cancer invasion and metastasis need to be further investigated. Peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2) is a U-box-type E3 ubiquitin ligase belonging to the cyclophilin family.

Bioinspired and Biomimetic AgNPs/Gentamicin-Embedded Silk Fibroin Coatings for Robust Antibacterial and Osteogenetic Applications.

With the progressively increasing demand for orthopedic Ti implants, the balance between two primary complications restricting implant applications is needed to be solved: the lack of bone tissue integration and biomedical device-associated infections (BAI), where emergence of multiresistance bacteria make it worse. Notably, a combination of silver nanoparticles (AgNPs) and a kind of antibiotic can synergistically inhibit bacterial growth, where a low concentration of AgNPs has been confirmed to promote the proliferation and osteogenesis of osteoblasts. In this work, we built AgNPs/gentamicin (Gen)-embedded silk fibroin (SF)-based biomimetic coatings on orthopedic titanium by a facile dipping-drying circular process and with the assistance of polydopamine (PD).

Rapamycin-loaded nanoporous α-FeO as an endothelial favorable and thromboresistant coating for biodegradable drug-eluting Fe stent applications.

Iron and its alloys can be potentially employed to fabricate advanced degradable cardiovascular stents due to their excellent mechanical and biocompatibility properties. However, their clinical applications are hindered by their inherent slow degradation rate, the formation of thrombosis and in-stent restenosis. In this study, vertically oriented and orderly arranged α-FeO (hematite) nanotubes with diameters ranging from 30 nm to 70 nm were successfully fabricated on iron substrates using an anodic oxidation approach.

Additively Manufactured Macroporous Titanium with Silver-Releasing Micro-/Nanoporous Surface for Multipurpose Infection Control and Bone Repair - A Proof of Concept.

Restoring large-scale bone defects, where osteogenesis is slow while infections lurk, with biomaterials represents a formidable challenge in orthopedic clinics. Here, we propose a scaffold-based multipurpose anti-infection and bone repairing strategy to meet such restorative needs. To do this, personalized multifunctional titanium meshes were produced through an advanced additive manufacturing process and dual "TiO-poly(dopamine)/Ag (nano)" post modifications, yielding macroporous constructs with micro-/nanoporous walls and nanosilver bullets immobilized/embedded therein.

Tailored Surface Treatment of 3D Printed Porous Ti6Al4V by Microarc Oxidation for Enhanced Osseointegration via Optimized Bone In-Growth Patterns and Interlocked Bone/Implant Interface.

3D printed porous titanium (Ti) holds enormous potential for load-bearing orthopedic applications. Although the 3D printing technique has good control over the macro-sturctures of porous Ti, the surface properties that affect tissue response are beyond its control, adding the need for tailored surface treatment to improve its osseointegration capacity. Here, the one step microarc oxidation (MAO) process was applied to a 3D printed porous Ti6Al4V (Ti64) scaffold to endow the scaffold with a homogeneous layer of microporous TiO2 and significant amounts of amorphous calcium-phosphate.

From Solution to Biointerface: Graphene Self-Assemblies of Varying Lateral Sizes and Surface Properties for Biofilm Control and Osteodifferentiation.

Bringing multifunctional graphene out of solution through facile self-assembly to form 2D surface nanostructures, with control over the lateral size and surface properties, would be an intriguing accomplishment, especially in biomedical fields where biointerfaces with functional diversity are in high demand. Guided by this goal, in this work, we built such graphene-based self-assemblies on orthopedic titanium, attempting to selectively regulate bacterial activities and osteoblastic functions, which are both crucial in bone regeneration. Briefly, large-area graphene oxide (GO) sheets and functionalized reduced GO (rGO) micro-/nanosheets were self-assembled spontaneously and controllably onto solid Ti, through an evaporation-assisted electrostatic assembly process and a mussel-inspired one-pot assembly process, respectively.