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.

Comparison of the Efficacy of ShuoTong Ureteroscopy and Simple Flexible Ureteroscopy in the Treatment of Unilateral Upper Ureteral Calculi.

Background: ShuoTong ureteroscopy (Sotn-ureteroscopy, ST-URS), a new lithotripsy operation method developed on the basis of ureteroscopy, is widely used to treat ureteral stones in China. Its composition includes rigid ureteral access sheath, standard mirror, lithotripsy mirror, and ShuoTong perfusion aspirator (ST-APM). Here, we compared the efficacy and safety of the ST-URS and the flexible ureteroscope (F-URS) holmium laser lithotripsy in the treatment of unilateral upper ureteral calculi. Methods: Retrospective analysis was conducted on the clinical data of 280 patients who met the inclusion 1) urinary tract CT was diagnosed with unilateral single upper ureteral calculi above the L4 lumbar spine; 2) patient age was from 18 to 80 years old; 3) patients were informed and consented to this study; and 4) patients were approved by the hospital ethics committee (proof number: KY-2019-020) and the exclusion criteria for unilateral upper ureteral calculi in the First Affiliated Hospital of Xiamen University from January 2018 to November 2020, and they were divided into the ST-URS group and the flexible ureteroscopy (F-URS) group. Results: The stone-free rate of 1 day after operation of the ST-URS group was significantly higher than the F-URS group (63.71 vs. 34.62%, P < 0.0001). The operative time (38.45 vs. 46.18 min, P = 0.005) and hospitalization cost (27,203 vs. 33,220 Yuan, P < 0.0001) of the ST-URS group were significantly lower than the F-URS group. There were no significant differences in the success rate of ureteral access sheath placement, operative blood loss, stone-free rate of 1 month after operation, postoperative complications, postoperative hospital stay, and postoperative visual analog scale (VAS) pain score between the two groups (P > 0.05). In subgroups of a diameter of calculi ≥ 1.5 cm, calculi CT numerical value ≥ 1,000 Hounsfield unit and the preoperative hydronephrosis range ≥ 3.0 cm, ST-URS shows more advantages in the operative time, stone-free rate of 1 day after the operation, the hospitalization cost, and the incidence of postoperative complications. Conclusion: In unilateral upper ureteral stones treated with a holmium laser, compared with the simple F-URS, the ST-URS has a shorter operative time, lower hospitalization cost, and a higher stone-free rate of 1 day after the operation, suggesting that the ST-URS could be more widely applied in clinics.

Flashlight contamination and effectiveness of two disinfectants in a stomatology hospital.

AIM: This study aims to assess the infection risks of flashlight contamination in a stomatology hospital and compare the disinfection effectiveness of alcohol (75%) and disinfecting wipes. BACKGROUND: The flashlight is a basic non-critical medical device in oral and maxillofacial surgery wards. Wounds are mostly found in oral cavities; therefore, reusable flashlights may be a potential source of nosocomial infections (NIs). However, the microbial flora present in flashlights used in hospitals has not yet been explored. METHODS: This study investigated the microbial contamination of 41 flashlights used in a stomatology hospital in Guangzhou in March 2016. RESULTS: Results indicated that 75.6%(31/41) of the flashlights had microbial contamination. Gram-positive bacteria accounted for 72.7%(24/33)of the microbial groups contaminating the flashlights, and Gram-negative bacteria (21.2%, 7/33), and fungi (6.1%, 2/33) constituted the remaining contaminants. The predominantly isolated species was Staphyloccus (66.7%, 22/33), especially Staphylococcus aureus (24.2%, 8/33). Approximately 77.3% (17/22) of the types of bacteria detected in the hands were same as those in the corresponding flashlights. Both the bacterial overstandard and S. aureus detection rates of doctors' flashlights were higher than those of nurses' flashlights (16/17 vs. 14/23, 7/17 vs. 1/23, respectively) (P < 0.05). Moreover, both disinfectants performed excellently, and their eligibility rates were not significantly different (17/17 vs. 14/14) (P > 0.05). CONCLUSION: Flashlights are potential causes of NIs. Disinfecting flashlights could be an effective and practical infection control method.

Contamination of dental goggles and effectiveness of 3 disinfectants in a stomatology hospital.

We investigated the contamination levels of dental goggles to assess the infection risk in a stomatology hospital and compared the effectiveness of 3 disinfectants, including Swashes (Swashes Enterprise, Co. Ltd., Shenzhen, China), medical ethanol (75%), and chlorine-containing disinfectant (500 mg/L). The results showed that 87.41% of goggles had bacterial contamination. In total, 54% of cultures included gram-positive cocci, making them the major microbial group contaminating the goggles. All 3 disinfectants showed excellent performance in disinfection, and there were no significant differences among the eligibility rates of the 3 disinfectants (97.2% vs 100.0% vs 100.0%, respectively). The study highlights the fact that dental goggles are potential reservoirs of nosocomial pathogens. Disinfection of goggles could be an effective and practical infection control method for dental practice.