Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.

People who suffers renal angiomyolipoma (AML) has a low quality of life. It is widely known that genetic factors including TSC2 mutation contribute to certain populations of renal AML-bearing patients. In this study, we are the first to identify novel TSC2 mutations in one Chinese renal epithelioid AML patient: c.2652C>A; c.2688G>A based on sequencing result from biopsy tissue. These two somatic mutations cause a translational stop of TSC2, which leads to mTORC1 activation. Given the fact that activation of mTORC1 ensures cell growth and survival, we applied its inhibitor, FDA-approved everolimus, to this woman. After months of treatment with everolimus, Computer-Tomography (CT) scan results showed that everolimus successfully reduced tumor growth and distal metastasis and achieved partial response (PR) to everolimu according to Response Evaluation Criteria in Solid Tumors (RECIST version 1.1). Further Blood Routine Examination results showed the concentration of red cell mass, hemoglobin, white blood cell (WBC), platelets and hematocrit (HCT) significantly returned to normal levels indicating patients with these two TSC2 mutations could be effectively treated by everolimus

Availability and Reliability of Service Function Chain: A Quantitative Evaluation View

Abstract Service function chain (SFC) based on network function virtualization (NFV) technology can handle network traffic flexibly and efficiently. The virtual network function (VNF), as the core function unit of SFC, can experience software aging, which reduces the availability and reliability of SFC and even leads to service interruption, after it runs continuously for a long time. Software rejuvenation technique can effectively combat software aging. However, its effectiveness in improving the availability and reliability of SFC needs to be evaluated. Compared with existing models, this paper proposes a semi-Markov model to capture the behaviors of each VNF in a SFC from the occurrence of software aging to recovery by software rejuvenation technique under the condition that the failure times and recovery times follow general distribution, while considering trigger intervals of software rejuvenation technique. We then derive the calculation formulas of the steady-state availability, transient availability, and reliability, which are applied to evaluate the effectiveness of software rejuvenation technique. Finally, we conduct sensitivity analysis and numerical experiments to analyze the effects of system parameters, the number of VNFs and trigger interval of software rejuvenation technique on availability and reliability of SFC, and the effects of time-varying parameters on transient availability of SFC

High perirenal fat thickness predicts a greater risk of recurrence in Chinese patients with unilateral nephrolithiasis

AbstractIntroduction The aim of this study was to evaluate the association between recurrence-free survival (RFS) and perirenal fat thickness (PFT) in a cohort of Chinese population with unilateral nephrolithiasis.Methods We retrospectively reviewed the medical records of 81 patients with unilateral nephrolithiasis in our center from January 2019 to June 2019. PFT measured on computed tomography (CT) scans was evaluated. Kaplan-Meier curves and log-rank tests were used to assess significant differences in RSF between high-PFT and low-PFT groups within sexes. Univariable and multivariable Cox regression analyses were used to evaluate the potential risk factors for renal stone recurrence.Results High PFT was significantly associated with high BMI and hyperlipidemia (p = .003 and.047, respectively). The PFT of stone-bearing kidney was significantly greater than PFT of non-stone-bearing kidney (0.77 ± 0.60 cm vs. 0.67 ± 0.58 cm, p = .002). During the follow-up periods (median 31 months), 21 (25.9%) patients experienced ipsilateral renal stone recurrence. In addition, Kaplan–Meier survival curves showed that patients with low PFT had a significant better RFS than those with high PFT (p = .012). In the univariable Cox analyses, male sex and high PFT were significantly associated with a poor RFS (p = .042 and .018, respectively). Moreover, both male sex and high PFT retained significance in the multivariable analyses (p = .045 and .020, respectively).Conclusions Our findings suggested that PFT is a noninvasive and feasible parameter, which may help in the risk stratification of renal stone recurrence in the follow-up periods

Effect of Boron Addition on the Precipitation Behavior of S31254

To reduce the precipitation of σ phases and to improve the hot workability of S31254 steels, boron has been added into the composition of S31254 to a concentration of 40 ppm. The precipitation behavior was investigated before and after the addition of boron in different S31254 alloys during the compression deformation, and the nose temperature at 950 °C and the phase dissolution temperature at 1074 °C were selected as the measurement temperature. The result showed that more σ phases were precipitated at the grain boundary of S31254 alloys, compared to the boron-added alloy. Meanwhile, the addition of 40 ppm boron into the alloys has obviously prevented the σ phases from the austenitic matrix, and it takes longer time for the precipitation of σ phase at 950 °C. The specific influence factors of boron on the precipitation of σ phases were also further discussed

Circular RNA CEP128 acts as a sponge of miR-145-5p in promoting the bladder cancer progression via regulating SOX11

Abstract Background This study aimed to investigate the effect of over-expressing circular RNA CEP128 (circCEP128) on cell functions and explore the molecular mechanism of which in bladder carcinoma. Methods The differentially expressed circRNAs and mRNAs in bladder carcinoma cells and cells in adjacent tissues were screened out using microarray analysis. Expression levels of circRNAs and mRNAs in tissues and cells were determined by qRT-PCR. Expression of SOX11 was detected by western blot. Luciferase reporter assay and RNA pull-down assay were used to investigate the interactions between the specific circRNA, miRNA and mRNA. Cell cycle and apoptosis were measured using flow cytometry after transfection. MTT assay was also performed to detect the cell proliferation. Results In present study, circCEP128 and SOX11 were observed significantly up-regulated in bladder cancer tissues, while the expression of miR-145-5p was decreased in cancer samples compared to normal samples. Cytoscape was used to visualize circCEP128-miRNA-target gene interactions based on the TargetScan and circular RNA interactome, which revealed that circCEP128 served as a sponge of miR-145-5p and indirectly regulated SOX11. Knockdown of circCEP128 induced the inhibition of cell proliferation and the increased bladder cancer cell apoptosis rate. Conclusions CircCEP128 functions as a ceRNA for miR-145-5p, which could up regulates SOX11 and further promotes cell proliferation and inhibits cell apoptosis of bladder cancer

Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report

Abstract Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported. Case Presentation In this study, we report a case of cystinuria with xanthine stones and hyperuricemia. The 23-year-old male patient was diagnosed with kidney and ureteral stones, solitary functioning kidney and hyperuricemia after admission to the hospital. The stones were removed by surgery and found to be composed of xanthine. Conclusion Genetic testing by next-generation sequencing technology showed that the patient carried the homozygous nonsense mutation c.1113 C> A (p.Tyr371*) in the SLC3A1 gene, which was judged to be a functionally pathogenic variant. Sanger sequencing revealed that the patient’s parents carried this heterozygous mutation, which is a pathogenic variant that can cause cystinuria. The 24-h urine metabolism analysis showed that the cystine content was 644 mg (<320 mg/24 h), indicating that the patient had cystinuria, consistent with the genetic test results. This case shows that cystinuria and xanthine stones can occur simultaneously, and provides evidence of a possible connection between the two conditions. Furthermore, our findings demonstrate the potential value of genetic testing using next-generation sequencing to effectively assist in the clinical diagnosis and treatment of patients with urinary calculi