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

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.

Effect of Preoperative Double-J Ureteral Stenting before Flexible Ureterorenoscopy on Stone-free Rates and Complications.

The effect of preoperative Double-J (DJ) ureteral stenting before flexible ureterorenoscopy (FURS) in the treatment for urinary stones was evaluated. We retrospectively enrolled 306 consecutive patients who underwent FURS from Jan. 2014 to Dec. 2017. All the patients were classified into two groups according to whether they had DJ ureteral stenting before FURS. Baseline characteristics (age, sex, stone location, stone size, surgical success rate, operation time, stone-free rate of the first day after surgery, stone-free rate of the first month after surgery, total complication rate) were compared using Chi-square test for categorical variables and Kruskal-Wallis test for continuous variables. In total, 306 patients were included in this study. The group of DJ stenting before FURS included 203 (66.3%) patients, and non-DJ stenting before FURS was observed in 103 (33.7%) patients. The group of DJ stenting before FURS was significantly associated with a shorter operation time (53.8 vs. 59.3 min, P<0.001), a higher stone-free rate of the first day after surgery (69.0% vs. 51.5%, P=0.003). However, statistical significant differences were not found in the age, sex, stone location, stone size, surgical success rate, stone-free rate of the first month after surgery (89.2% vs. 81.6%, P=0.065) and total complication rate (5.4% vs. 9.7%, P=0.161) between the two groups. Preoperative DJ ureteral stenting before FURS could reduce the operation time and increase stone-free rate of the first day after surgery. However, it might not benefit the stone-free rate of the first month after surgery and reduce the complication rate. Preoperative DJ stenting should be not routinely performed.

Association Between BAK1 Gene rs210138 Polymorphisms and Testicular Germ Cell Tumors: A Systematic Review and Meta-Analysis.

Background: Several studies including some genome-wide association studies (GWAS) had shown that BAK1 gene rs210138 polymorphisms might be associated with testicular germ cell tumors (TGCT). Here we tried to sum up the association through a systematic review and meta-analysis. Methods: Studies associated with BAK1 rs210138 and TGCT was systematically searched in databases. The effect size was pooled according to ORs and 95% CIs. Results: Our systematic review and meta-analysis comprised 14 articles. Significantly increased risk of TGCT was found in eligible GWAS and follow-up studies, in overall group and its Caucasian subgroup. Conclusions: Compared with adenine (A), BAK1 rs210138 guanine (G) is associated with increased risk of TGCT. Well-planned studies with larger sample size and more subgroups are needed to verify the risk identified in our systematic review and meta-analysis.

Association between KITLG Gene Polymorphisms and Testicular Germ Cell Tumors: A Systematic Review and Meta-analysis.

It has been reported that c-KIT ligand (KITLG) gene polymorphisms may be associated with testicular germ cell tumors (TGCT). Owing to mixed and inconclusive results, we conducted a systematic review and meta-analysis to summarize and clarify this association. A systematic search of studies on the association between KITLG gene polymorphisms and TGCT susceptibility was conducted in databases. Odds ratios and 95% confidence intervals were used to pool the effect size. Six articles were included in our systematic review and meta-analysis. Compared with adenine (A), KITLG rs995030 guanine (G) might be associated with increased risk of TGCT. There are insufficient data to fully confirm the association between KITLG rs4474514 and TGCT susceptibility. Well-designed studies with larger sample size and more subgroups are required to validate the risk identified in the current meta-analysis.

Association between calcitonin receptor gene polymorphisms and calcium stone urolithiasis: A meta-analysis

ABSTRACT Purpose It has been reported that calcitonin receptor (CALCR) gene polymorphisms might be associated with calcium stone urolithiasis. Owing to mixed and inconclusive results, we conducted a meta-analysis to summarize and clarify this association. Materials and Methods A systematic search of studies on the association between CALCR gene polymorphisms and calcium stone urolithiasis susceptibility was conducted in databases. Results Odds ratios and 95% confidence intervals were used to pool the effect size. Five articles were included in our meta-analysis. Conclusions CALCR rs1801197 might be associated with increased risk of calcium stone urolithiasis. There is insufficient data to fully confirm the association between CALCR rs1042138 and calcium stone urolithiasis susceptibility. Well-designed studies with larger sample size and more subgroups are required to validate the risk identified in the current meta-analysis.

Association between androgen receptor gene polymorphisms and testicular germ cell tumor: A systematic review and meta-analysis.

OBJECTIVE: To estimate association between androgen receptor (AR) gene polymorphisms and testicular germ cell tumor (TGCT) susceptibility. MATERIALS AND METHODS: Systematic search of studies on the association between AR gene polymorphisms and TGCT susceptibility was conducted. Odds ratios and 95% confidence intervals were used to pool effect size. RESULTS: For CAG repeat, no evidence was found for association between (>25 vs. ≤25), (>25 vs. 21-25), (<21 vs. 21-25), (others vs. 21-25), (>23 vs. ≤23), (<21 vs. ≥21), (<21 vs. ≥21)'s some subgroups and TGCT susceptibility, which showed stability. In (>24 vs. ≤24), (>24 vs. 21-24), (<21 vs. 21-24), and (others vs. 21-24) and almost all of their subgroups, increased TGCT risk was found without sensitivity analysis. For GGN, no statistical change of TGCT risk was found in (<23 vs. ≥23), (<23 vs. 23), which showed stability. For single nucleotide polymorphism (SNP) rs6152 G > A, rs1204038 G > A and rs2361634 A > G, no statistical change was found without sensitivity analysis. CONCLUSIONS: GGN repeat number <23 may not be associated with TGCTs susceptibility. However, there was insufficient data to fully confirm association in GGN repeat number >23, CAG repeat number, SNP rs6152, rs1204038, and rs2361634.

Association between Krüppel like factor 6 intervening sequence 1-27 G > A and cancer susceptibility: A meta-analysis.

BACKGROUND/OBJECTIVE: It has been reported that Krüppel like factor 6 intervening sequence (KLF6 IVS) 1-27 G > A might be associated with cancer susceptibility. Here, we conducted a meta-analysis to summarize and clarify this association. MATERIALS AND METHODS/MAIN RESULTS: A systematic search of studies on the association between KLF6 IVS 1-27 G > A, and cancer susceptibility was conducted in databases. Odds ratios and 95% confidence intervals were used to pool the effect size. Seven articles were included in our meta-analysis. Overall and in prostate cancer, population-based subgroup overall and Caucasian subgroup overall, no evidence was found for the association between KLF6 IVS 1-27 G > A polymorphism and cancer susceptibility in any genetic model and the results showed stability in sensitivity analyses. CONCLUSIONS: KLF6 IVS 1-27 G > A may not be associated with cancer susceptibility, especially the susceptibility of unselected prostate cancer. However, there was insufficient data to fully confirm the association between KLF6 IVS 1-27 G > A and familial prostate cancer, sporadic prostate cancer, gastric cancer, and cancers from different ethnicity, and the results should be interpreted with caution.

Puncture of foramen ovale cranium in computed tomography three-dimensional reconstruction.

The study aimed to provide the anatomic data for puncture of foramen ovale cranium in oral cavity. We scan 100 volunteers' skull on computed tomography who have no lesion of skull base, of which the images were for three-dimensional reconstruction. The following observations and measurements were carried out: the shape, size of foramen ovale cranium, and the angle and length of puncture line. The results we got are the following: foramen ovale cranium appears as oval, kidney shape, round, pear shape, and strip shape. Foramen ovale diameter is 8.20 ± 1.54 mm, and width is 4.08 ± 0.73 mm for men and 4.23 ± 0.79 mm for female. The distance from the center of foramen ovale to the maxillary second molar is 51.65 mm for male and 48.77 mm for female. The puncture line is from the center of foramen ovale to the maxillary second molar. The angle of the puncture line with the vertical plane, which is through the midpoint of supraorbital margin and the infraorbital margin, is 40.27 degrees for men and 37.31 degrees for women. The angle of the puncture line with the horizontal plane is 49.37 degrees for men and 52.26 degrees for women. The angle of the puncture line with the sagittal plane is 3.78 degrees. All data between the left and right sides have no statistically significant difference (P > 0.05), but the diameter, the length of the puncture, and the angle of puncture line with the horizontal and vertical have significant differences on sex (P < 0.01). The anatomic character of the foramen ovale cranium has important value on the accuracy of puncture for the treatment of trigeminal neuralgia.

Morphological structure of the infraorbital canal using three-dimensional reconstruction.

Our study aim was to evaluate the initial position accurately and the direction of infraorbital canal approximately by analyzing the parameters of infraorbital canal. This study was based on 64-slice computed tomographic multiple planar reconstruction technique and can improve the success rate of infraorbital nerve blockade. The following observations and measurements were carried out in 224 normal infraorbital canals (112 people): the length, angle, and adjoined relations of initial infraorbital canal, to reveal the anatomic characteristics of the canals and to compare the difference between left and right or male and female. Six indicators were measured: (1) the length of initial infraorbital canal; (2) the distance between skin and the first obvious turn of infraorbital canal along the direction of initial infraorbital canal (the depth of puncture); (3) the vertical distance between infraorbital canal and nasal septum; (4) the vertical distance between infraorbital canal and infraorbital rim; (5) the angle between the infraorbital canal and the Frankfort plane; and (6) the angle between the infraorbital canal and the sagittal plane. The difference was statistically significant between 2 sides on the depth of puncture. For other values, the differences between left and right and between women and men were of no statistical significance.