A robust localization approach for Percutaneous Nephrolithotomy (PCNL): A single-center retrospective study.

BACKGROUND: Percutaneous Nephrolithotomy (PCNL) represents the gold standard treatment method for cases with large kidney stones. As a critical step in performing PCNL, the procedure of establishing a safe and accurate nephrostomy tract will dramatically impact the treatment quality of patients with large-sized kidney stones. OBJECTIVE: This work attempts to describe a new and improved process of establishing an accurate nephrostomy tract and clinically evaluate the effectiveness and safeness of this proposed methodology. METHODS: This work represents a retrospective single-center study carried out between August 2013 and November 2019. The collected samples consist of 937 patients who were operated on using PCNL coupled with our proposed procedure. Briefly, a preoperative B-ultrasonography was firstly performed to decide the puncture point in a simulated surgical position where was marked with ureteral catheter segments (2-3 cm). A computed tomography (CT) scan was followed to correct the anchor points in the simulated surgical position. After this, an accurate puncture operation was performed under the real-time guidance of intraoperative B ultrasound. RESULTS: Examining this study, 851 subjects with renal stones and 86 subjects with ureteropelvic junction stones were included for the PCNL operation project. All samples were grouped with Guy's grading system: grade I, II, III, and IV patients there were 0.00%, 42.69%, 51.01%, and 6.30%, respectively. Among these patients, the average age was 48.49 ± 10.80 years old, with a male to female ratio of around 1.73:1. CONCLUSIONS: This study showed that our developed method warrants an accurate and safe PCNL operation that involves the process of establishing the nephrostomy tract. Other advantageous attributes of this new PCNL process include negligible radiation exposure, lesser complications, and low failure rates. More importantly, this new localization approach is particularly attractive for hospitals that are new to the field of adopting PCNL considering its safeness, effectiveness, and learnability.

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

OBJECTIVE: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. METHODS: Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. RESULTS: A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. CONCLUSIONS: We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.