A frequent allele codes for a truncated variant of semenogelin I, the major protein component of human semen coagulum

Human semen coagulum predominantly consists of high molecular mass complexes of the seminal vesicle secreted semenogelin I (SgI) and semenogelin II (SgII). Here we describe a previously unknown variant of the SgI gene that is present at an allele frequency of ∼3% in the Swedish population. It gives rise to a protein with a molecular mass of 43 kDa, SgI43, which compared with the 50 kDa variant, SgI50, is lacking a tandem repeat of 60 amino acid residues that was probably deleted by homologous recombination. In spite of the size difference, SgI43 has many properties in common with SgI50, such as a very high iso-electric point and susceptibility to proteolytic degradation by prostate-specific antigen. Heterozygous carriers of the SgI43 allele neither show impaired fertility nor do they significantly differ from individuals homozygous for SgI50 with respect to sperm parameters such as semen volume, sperm count and fraction of motile spermatozoa

Imaging modalities and treatment of paediatric upper tract urolithiasis: A systematic review and update on behalf of the EAU urolithiasis guidelines panel

Background: Prompt diagnosis and treatment of paediatric urolithiasis are required to avoid long term sequelae of renal damage. Objective: To systematically review the literature regarding the diagnostic imaging modalities and treatment approaches for paediatric urolithiasis. Study design: PubMed, Science Direct, Scopus and Web of Science were systematically searched from January 1980–January 2019. 76 full-text articles were included. Results: Ultrasound and Kidney-Ureter-Bladder radiography are the baseline diagnostic examinations. Non-contrast Computed Tomography (CT) is the second line choice with high sensitivity (97–100%) and specificity (96–100%). Magnetic Resonance Urography accounts only for 2% of pediatric stone imaging studies. Expectant management for single, asymptomatic lower pole renal stones is an acceptable initial approach, especially in patients with non-struvite, non-cystine stones<7 mm. Limited studies exist on medical expulsive therapy as off-label treatment. Extracorporeal shock wave lithotripsy (SWL) is the first-line treatment with overall stone free rates (SFRs) of 70–90%, retreatment rates 4–50% and complication rates up to 15%. Semi-rigid ureteroscopy is effective with SFRs of 81–98%, re-treatment rates of 6.3–10% and complication rates of 1.9–23%. Flexible ureteroscopy has shown SFRs of 76–100%, retreatment rates of 0–19% and complication rates of 0–28%. SFRs after first and second-look percutaneous nephrolithotomy (PNL) are 70.1–97.3% and 84.6–97.5%, respectively with an overall complication rate of 20%. Open surgery is seldom used, while laparoscopy is effective for stones refractory to SWL and PNL. Limited data exist for robot-assisted management. Conclusions: In the initial assessment of paediatric urolithiasis, US is recommended as first imaging modality, while non-contrast CT is the second option. SWL is recommended as first line treatment for renal stones <20 mm and for ureteral stones<10 mm. Ureteroscopy is a feasible alternative both for ureteral stones not amenable to SWL as well as for renal stones <20 mm (using flexible). PNL is recommended for renal stones >20 mm. © 2020 Journal of Pediatric Urology Compan

Treatment outcomes of bladder stones in children with intact bladders in developing countries: A systematic review of >1000 cases on behalf of the European Association of Urology Bladder Stones Guideline panel

Introduction: Bladder stones (BS) are still endemic in children in developing nations and account for a high volume of paediatric urology workload in these areas. The aim of this systematic review is to comparatively assess the benefits and risks of minimally invasive and open surgical interventions for the treatment of bladder stones in children. Methods: This systematic review was conducted in accordance with Cochrane Guidance. Database searches (January 1970– March 2021) were screened, abstracted, and assessed for risk of bias for comparative randomised controlled trials (RCTs) and non-randomised studies (NRSs) with >10 patients per group. Open cystolithotomy (CL), transurethral cystolithotripsy (TUCL), percutaneous cystolithotripsy (PCCL), extracorporeal shock wave lithotripsy (ESWL) and laparoscopic cystolithotomy (LapCL) were evaluated. Results: In total, 3040 abstracts were screened, and 8 studies were included. There were 7 retrospective non-randomised studies (NRS's) and 1 quasi-RCT with 1034 eligible patients (CL: n=637, TUCL: n=196, PCCL: n=138, ESWL: n=63, LapCL n=0). Stone free rate (SFR) was given in 7 studies and measured 100%, 86.6%-100%, and 100% for CL, TUCL and PCCL respectively. CL was associated with a longer duration of inpatient stay than PCCL and TUCL (p<0.05). One NRS showed that SFR was significantly lower after 1 session with outpatient ESWL (47.6%) compared to TUCL (93.5%) and CL (100%) (p<0.01 and p<0.01 respectively). One RCT compared TUCL with laser versus TUCL with pneumatic lithotripsy and found that procedure duration was shorter with laser for stones <1.5cm (n=25, p=0.04). Conclusion: In conclusion, CL, TUCL and PCCL have comparable SFRs but ESWL is less effective for treating stones in paediatric patients. CL has the longest duration of inpatient stay. Information gathered from this systematic review will enable paediatric urologists to comparatively assess the risks and benefits of all urological modalities when considering surgical intervention for bladder stones. © 2022 Journal of Pediatric Urology Compan