Urology never events in the United Kingdom: A retrospective 10-year review.

Objectives: The aim was to assess the prevalence of never events (NEs) specific to urology in the United Kingdom and identify commonly occurring themes. Methods: Data from the National Health Service (NHS) NEs website were obtained and all NEs from 2012 to 2022 were reviewed. Urology-specific NEs were identified and further analysed in their respective categories. Data regarding the total number of surgical procedures performed in the NHS specific to each specialty were obtained via the NHS Hospital Episode Statistics website. Results: There were 3972 NEs recorded over the 10-year period with 95 (2.4%) of these as a result of urology surgery. The most common surgical intervention associated with a urological NE was ureteric stenting, which comprised 45/95 (47.4%) of all analysed NEs. These consisted of wrong site ureteric stent insertion (n = 29), wrong site ureteric stent removal (n = 9), wrong stent type (n = 5) and retained guidewires (n = 2). There were 7.14 million urology surgeries performed in the 10-year period, and prevalence was 0.0013%. Conclusion: NEs are fully preventable serious incidents in the NHS. This is the first study to investigate the prevalence of NEs in urology in the United Kingdom. This study demonstrates that in the last 10 years the prevalence of urology NEs is low at 0.0013%, with ureteric stent procedures accounting for more than half of the NEs. Urologists should be mindful of the potential for wrong site surgery in urologic stenting procedures.

Mucinous Adenocarcinoma of the Prostate With Normal Prostate-Specific Antigen Levels, Pulmonary Metastasis, and the Absence of Nodal Disease: A Case Report.

A 74-year-old man was suffering from nine months of perineal pain and progressive worsening of urinary symptoms including nocturia and urgency. His prostate-specific antigen (PSA) levels were 1.48 ng/mL at the time of referral. Initially, a differential diagnosis of prostatitis or seminal vesicle inflammation was made, and four weeks of antibiotics were prescribed, which were later extended to six weeks due to failure of symptoms to resolve. Magnetic resonance imaging (MRI) of the prostate was then conducted. The impression was that there was ejaculatory duct obstruction caused by enlarged seminal vesicles with no evidence of significant prostate cancer. The prostate-specific antigen density (PSAd) was 0.04, and the prostate imaging reporting and data system (PIRADS) score was I-II. A CT chest with contrast was conducted for further investigation of pulmonary nodules found on the CT urogram. It revealed multiple calcified pulmonary nodules which were suspicious of malignancy. A CT-guided biopsy of one of the pulmonary nodules was taken, and histopathological analysis revealed a mucinous adenocarcinoma. A transurethral resection of the prostate (TURP) was then performed. Histopathological analysis of the prostatic surgical specimen revealed invasive mucinous adenocarcinoma. Based on the findings, a diagnosis of mucinous adenocarcinoma of the prostate with atypical lung metastasis without osseous or regional lymph node involvement was made, stage T4 N0 M1a. The patient is currently on a treatment regimen consisting of carboplatin, pemetrexed, and pembrolizumab.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following in silico triaging of the results, 88 novel associations were identified including 38 with existing experimental evidence. We have published the confirmation of one of these associations, hereditary ataxia with UCHL1 , and independent confirmatory evidence has recently been published for four more. We highlight a further seven compelling associations: hypertrophic cardiomyopathy with DYSF and SLC4A3 where both genes show high/specific heart expression and existing associations to skeletal dystrophies or short QT syndrome respectively; monogenic diabetes with UNC13A with a known role in the regulation of ß cells and a mouse model with impaired glucose tolerance; epilepsy with KCNQ1 where a mouse model shows seizures and the existing long QT syndrome association may be linked; early onset Parkinson's disease with RYR1 with existing links to tremor pathophysiology and a mouse model with neurological phenotypes; anterior segment ocular abnormalities associated with POMK showing expression in corneal cells and with a zebrafish model with developmental ocular abnormalities; and cystic kidney disease with COL4A3 showing high renal expression and prior evidence for a digenic or modifying role in renal disease. Confirmation of all 88 associations would lead to potential diagnoses in 456 molecularly undiagnosed cases within the 100KGP, as well as other rare disease patients worldwide, highlighting the clinical impact of a large-scale statistical approach to rare disease gene discovery.