SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review. / SNX10åŸºå› çªå˜è‡´å©´å„¿æ¶æ€§çŸ³éª¨ç—‡1ä¾‹å¹¶æ–‡çŒ®å¤ä¹ .

A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.

One-Dimensional Synergistic Core-Shell Nanozymes with Superior Peroxidase-like Activity for Ultrasensitive Colorimetric Detection of Blood Cholesterol.

In this paper, a simple and green strategy was proposed to fabricate one-dimensional core-shell Fe3O4@C/Ni nanocomposites. The rationally designed hybrid nanostructures notably exhibited an extremely excellent peroxidase-mimicking property, arising from the synergetic effects of Fe3O4, carbon, and Ni nanoparticles, along with the hollow and hierarchically porous nanostructures. Based upon the outstanding peroxidase-like activity and cholesterol oxidase cascade reaction, a label-free, ultrasensitive, and highly selective colorimetric assay for cholesterol determination has been developed. Under the optimized conditions, the colorimetric biosensor demonstrated a linear response to cholesterol ranging from 5 to 200 µM, with a relatively low detection limit of 0.17 µM. More importantly, cholesterol determination as low as 5 µM could be directly distinguished with the naked eye. In addition, we successfully determined the total cholesterol content in human serum samples with satisfactory accuracy and good precision. The Fe3O4@C/Ni nanocatalyst-based colorimetric biosensor provides great potential in point-of-care testing in disease diagnosis.

Engineering Nanozymes Using DNA for Catalytic Regulation.

DNA treatment of metal nanoparticles provides a potent tool for tuning their native properties and constructing advanced materials. However, there have been limited studies on interactions between DNA and nanomaterial-based artificial enzymes (nanozymes) to influence their intrinsic peroxidase-like properties. Here, we present the utilization of DNA as a capping ligand to engineer various bio-nanointerfaces for high-precise and adjustable regulation of catalytic behaviors of nanozymes toward the oxidation of substrates. The treatment of stiff double-stranded DNA only induced a negligible enhancement of the catalytic activity of nanozymes, and both coil-like single-stranded DNA and hairpin DNA-capped nanoparticles produced a medium signal increase. Interestingly, hybridization chain reaction (HCR) product-treated nanoparticles showed the highest peroxidase-like activities among four DNA structures. Furthermore, significant parameters that influence HCR process and the modulation of catalysis, such as the concentration of the hairpin DNA, the ionic strength, and the amount of nanozyme, were also systematically investigated. On the basis of HCR amplification and iron oxide (Fe3O4) nanoparticles, we develop a simple, fast, label-free, and sensitive colorimetric strategy for sensing of a Yersinia pestis-relevant DNA sequence with a detection limit as low as 100 pM as well as single nucleotide polymorphism discrimination. These results highlight DNA engineering as a facile strategy to regulate the catalytic activities of nanozymes and understand the interactions between metallic nanoparticles and nucleic acids for biosensing applications.

Yolk-shell nanostructured Fe3O4@C magnetic nanoparticles with enhanced peroxidase-like activity for label-free colorimetric detection of H2O2 and glucose.

Herein, we have developed a simple and facile method to synthesize yolk-shell nanostructured Fe3O4@C nanoparticles (NPs) as a multifunctional biosensing platform for the label-free colorimetric detection of H2O2 and glucose. It was demonstrated that Fe3O4@C yolk-shell nanostructures (YSNs) retained the magnetic properties that can be used for separation and concentration. Also importantly, the Fe3O4@C YSNs exhibited an intrinsic peroxidase-like activity that could quickly catalyze the enzyme substrate in the presence of H2O2 and produce a blue color. Compared to other similar ferric oxide-based NPs with different structures, Fe3O4@C YSNs exhibited greatly enhanced catalytic activities due to their unique structural features. Moreover, steady-state kinetics indicated the catalytic behaviors in agreement with the classic Michaelis-Menten models. Taking advantage of the high catalytic activity, Fe3O4@C YSNs were employed as novel peroxidase mimetics for label-free, rapid, sensitive, and specific colorimetric sensing of H2O2 and glucose, suggesting that Fe3O4@C YSNs have the potential for construction of portable sensors in the application of point-of-care (POC) diagnosis and on-site tests.

Multifunctional Yolk-Shell Nanostructure as a Superquencher for Fluorescent Analysis of Potassium Ion Using Guanine-Rich Oligonucleotides.

The excellent performance of a biosensor generally depends on the high signal-to-noise ratio, and the superquencher plays a dominant role in fluorescent sensors. Novel nanoquenchers exhibited high quenching efficiency in various fluorescent assays of biological/chemical molecules. Here, we developed a novel nano-biosensor using Fe3O4@C yolk-shell nanoparticles (YSNPs) and studied their quenching effect. We found Fe3O4@C YSNP was a superquencher and exhibited an ultrastrong quenching ability, up to almost 100% quenching efficiency, toward fluorophores. Also, Fe3O4@C YSNPs possessed the most superior fluorescence restoration efficiency, due to biomolecular recognition event, compared to the other nanoquenchers, including bare Fe3O4 NPs, graphene oxide (GO), and single-wall carbon nanotubes (SWCNTs). On the basis of that, a fluorescent sensing platform for potassium-ion (K+) analysis with guanine (G)-rich oligonucleotides was designed. As a result, Fe3O4@C YSNP-based fluorescent sensors demonstrated excellent performance, with an ultrahigh sensitivity of a detection limit as low as 1.3 µM, as well as a wide dynamic range from 50 µM to 10 mM. The proposed method is fast, simple, and cost-effective, suggesting the great potential for practical applications in biomedical detection and clinical diagnosis.