Search

Background Primary hyperoxaluria(PH)is a rare autosomal recessive genetic disease that contains three subtypes (PH1, PH2 and PH3). Approximately 80% of PH patients has been reported as subtype PH1, this subtype of PH has been related to a higher risk of renal failure at any age. Several genetic studies indicate that the variants in gene AGXT are responsible for the occurrence of PH1. However, the population heterogeneity of the variants in AGXT makes the genetic diagnosis of PH1 more challenging as it is hard to locate each specific variant. It is valuable to have a complete spectrum of AGXT variants from different population for early diagnosis and clinical treatments of PH1. Case presentation In this study, We performed high-throughput sequencing and genetic analysis of a 6-year-old male PH1 patient from a Chinese family. Two variants (c.346G > A: p.Gly116Arg; c.864G > A: p.Trp288X) of the gene AGXT were identified. We found a nonsense variant (c.864G > A: p.Trp288X) that comes from the proband’s mother and has never been reported previously. The other missense variant (c.346G > A: p.Gly116Arg) was inherited from his father and has been found previously in a domain of aminotransferase, which plays an important role in the function of AGT protein. Furthermore, we searched 110 pathogenic variants of AGXT that have been reported worldwide in healthy local Chinese population, none of these pathogenic variants was detected in the local genomes. Conclusions Our research provides an important diagnosis basis for PH1 on the genetic level by updating the genotype of PH1 and also develops a better understanding of the variants in AGXT by broadening the variation database of AGXT according to the Chinese reference genome.

Topical 5-fluorouracil (5FU) is clinically used for skin cancer. However, the skin penetration of 5FU is low and marginal due to its poor permeability, leading to its limited efficacy for cancer tr...

The polymorphism of cocrystals is not studied as widely as that of single-component crystals. In this work, two polymorphic forms of a cocrystal of melatonin with piperazine (MLT–PIP I and MLT–PIP ...

Prostate cancer (CaP) is a serious and common genital tumor. Generally, men with metastatic CaP can easily develop castration‑resistant prostate cancer (CRPC). However, the pathogenesis and tumorigenic pathways of CRPC remain to be elucidated. The present study performed a comprehensive analysis on the gene expression profile of CRPC in order to determine the pathogenesis and tumorigenic of CRPC. The GSE33316 microarray, which consisted of 5 non‑castrated samples and 5 castrated samples, was downloaded from the gene expression omnibus database. Subsequently, 201 upregulated and 161 downregulated differentially expressed genes (DEGs) were identified using the limma package in R and those genes were classified and annotated by plugin Mcode of Cytoscape. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed using Database for Annotation, Visualization and Integrated Discovery and KEGG Orthology Based Annotation System 2.0 online tools to investigate the function of different gene modules. The BiNGO tool was used to visualize the level of enriched GO terms. Protein‑protein interaction network was constructed using STRING and analyzed with Cytoscape. In conclusion, the present study determined that aldo‑keto reductase 3, cyclin B2, regulator of G protein signaling 2, nuclear factor of activated T‑cells and protein kinase C a may have important roles in the development of CRPC.

The aim of this study was to investigate the effects of Portulaca oleracea extracts on growth performance and microbial populations in the ceca of broilers. A total of 120 one-day-old broilers were randomly divided into 3 groups. Portulaca oleracea extracts were added to diets at 0.2 and 0.4% (wt/wt; POL-0.2, POL-0.4), respectively. The control (CON) group was administered with no P. oleracea extract supplementation. Body weight gain and feed conversion ratio were recorded every 2 wk. On d 28 and 42, the cecal contents were collected and assayed for Escherichia coli, Lactobacillus, and Bifidobacterium populations. Additionally, the pH of the ileum and cecum was measured. The results showed that both on d 28 and 42 BW gain of P. oleracea extract supplementation groups was significantly higher, whereas the feed conversion ratio was lower (P < 0.05) compared with CON. On d 28 and 42, significantly (P < 0.05) fewer E. coli were recovered from ceca of broilers provided with the POL-0.2 diet than from broilers provided with the control diet. The quantities of Lactobacillus and Bifidobacterium of POL-0.2 were significantly (P < 0.05) higher than CON. Results showed P. oleracea extracts have no distinct influence on intestinal pH. These data suggest that P. oleracea extract supplementation significantly altered the cecal bacterial community without affecting the intestinal pH.

Plasmid DNA was extracted from all 38 strains of chicken Escherichia coli by alkaline lysis method. The agarose gel electrophoresis showed 23 plasmid patterns. The strains from the same source had the same, similar, or quite different plasmid profiles, while those from different sources generally did not have the same plasmid profiles. Therefore, the plasmid profiles can provide basic materials for epidemiological investigation on chicken Escherichia coli at molecular level.

Thirty-eight isolates of Escherichia coli (E.coli) were isolated from chickens either ill or dead suspected with E.coli. These chickens come from chicken breeding farms in the districts of Baoding, Qinhuangdao and Beijing of China. The results of the antibiotics sensitivity test in the thirty-eight isolates to twenty-four kinds of antibiotics show that all isolates have presented antibiotic resistance disparately as well as multiresistance. All isolates are sensitive to Cephalosporins antibiotics and Aminoglycosides antibiotics such as Amikacin, Cefazolin, Cefradine, Cefoperazone and Ceftriaxone. Thirty-eight isolates are extremely resistant to Penicillins antibiotics, Lincomycins antibiotics, Tetracyclines antibiotics and Macrolides antibiotics such as Midecamycine, Lincomycin, Carbenicillin, Tetracycline, Amoxicillin. Antibiotics sensitivity test provides a guidance for antibiotic application and scientific research on poultry farms.

In this paper, the effective elastic moduli E ∗ and μ ∗ of concrete are obtained from the analytical solution of a two-dimensional microstructural model, and the relationships between E ∗ , μ ∗ and the elastic moduli of each constituent of concrete are studied. Engineering formulas of the effective elastic moduli on the basis of engineering mechanics are also derived and their advantages and limitations are assessed. The variation of E ∗ and μ ∗ values with the basic elastic moduli E1, E2 and E3 of sand (or aggregate), interface and cement paste is given. It is found that the E ∗ and μ ∗ values are affected significantly by the interface layer. The results provide a deeper understanding of the influences of each constituent of the microstructure on the overall behavior of concrete, and an analytical relationship between the nonlinear behavior of concrete and the properties of its constituent. They are also helpful for developing new high-strength concrete materials with an improved strength and stiffness.

Chemotherapy frequently results in neurocognitive deficits that include impaired learning and memory. Thus, it is important to prevent or ameliorate the persistence of cognitive impairment. Compound K was employed to examine the ameliorating effect on chronic treatment with cyclophosphamide. Eight week-old ICR mice were given 80 mg/kg cyclophosphamide, cyclophosphamide combined with compound K (2.5, 5 and 10 mg/kg) or saline injections once per week for 4 weeks. Passive avoidance test and Y maze were used to evaluate memory and learning ability. Immunohistochemical staining for progenitor cell and immature neurons was used to assess changes in neurogenesis. Compound K (10 mg/kg) is able to ameliorate the decrease of neurogenesis in the hippocampus caused by cyclophosphamide. These results suggest that compound K might be a potential strategy to ameliorate or repair the disrupted hippocampal neurogenesis induced by the side effect of chemotherapy agent.

To develop a novel docetaxel (DOC)-loaded lipid microbubbles (MBs) for achieving target therapy and overcoming the poor water-solubility drawback of DOC.A novel DOC-loaded microbubble (DOC + MB) was prepared by lyophilization and the physicochemical properties including ultrasound contrast imaging of the liver were measured. The anti-tumor effect of the DOC + MBs combined with low-frequency ultrasound (LFUS; 0.8 Hz, 2.56 W/cm², 50% cycle duty) on the DLD-1 cancer cell line was examined using an MTT assay.The physicochemical properties of the two tested formats of DOC + MBs (1.0 mg and 1.6 mg) was shown: concentration, (6.74 ± 0.02) × 10⁸ bubbles/mL and (8.27 ± 0.15) × 10⁸ bubbles/mL; mean size, 3.296 ± 0.004 μm and 3.387 ± 0.005 μm; pH value, 6.67 ± 0.11 and 6.56 ± 0.05; release rate, 3.41% and 12.50%; Zeta potential, -37.95 ± 7.84 mV and -44.35 ± 8.70 mV; and encapsulation efficiency, 54.9 ± 6.21% and 46.3 ± 5.69%, respectively. Compared with SonoVue, the DOC + MBs similarly enhanced the echo signal of the liver imaging. The anti-tumor effect of the DOC + MBs/LFUS group was significantly better than that of DOC alone and that of the normal MBs/LFUS groups.The self-made DOC + MBs have potential as a new ultrasound contrast agent and drug-loaded microbubble, and can obviously enhance the antitumor effect of DOC under LFUS exposure.