ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 × 10-08). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 × 10-19. Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development

Steroid estrogens in primary and tertiary wastewater treatment plants

The concentrations of two natural estrogens (Estrone (E1) and Estradiol (E2)) and one synthetic progestin (Ethinylestradiol (EE2)) were measured for different unit operations in an advanced sewage treatment plant and in a large coastal enhanced primary sewage treatment plant. The average influent concentration to both plants was similar – 55 and 53 ng/L for E1 and 22 and 12 ng/L for E2 for the advanced and enhanced primary STPs, respectively. The activated sludge process at the advanced STP removed up to 85% and 96% of E1 and E2, respectively. The enhanced primary sewage treatment plant was mostly ineffective at removing the steroids with only 14% of E1 and 5% of E2 being removed during the treatment process. EE2 was not been detected during the study period in the influent or effluent of either STP. The difference in the observed removal between the two plants is primarily linked to plant performance but the extent to which removal of steroid estrogens is due to bacterial metabolism (i.e. the advanced STP) rather than adsorption to the bacterial biomass remains unclear. The poor removal observed for the coastal enhanced primary STP may have implications for the receiving environment in terms of a greater potential for abnormal reproductive systems in marine animals, particularly if discharges are into large bays or harbours where flushing is limited

Fate of Steroid Estrogens in Australian Inland and Coastal Wastewater Treatment Plants

A comparison of estrone (E1), 17b-estradiol (E2) and 17a-ethinylestradiol (EE2) removal at a coastal enhanced primary and inland advanced sewage treatment plant (STP) is reported. The average concentration of estrogens in the raw sewage is similar to reports in other studies. The sequential batch reactor at the advanced STP removed on average 85% of the incoming E1 and 96% of the E2. Further removal was observed during later microfiltration with the estrogen concentration below detection (<0.1 ng.L-1) after reverse osmosis. Some 6% of the influent E1+E2 was removed in the waste activated sludge. The detection of EE2 in the waste activated sludge (0.42 ng.g-1 solids dry weight), undetectable in the raw sewage, suggests that EE2 is resistant to biological treatment in the sequential batch reactor and is primarily removed due to sorption. Little estrogen removal was observed at the enhanced primary with only 7% of E1 and 0% of E2 removed. Low removal is expected based on the degree of estrogens partitioning in the organic fraction given the relatively low solids concentration, but surprisingly, some 43% of E2, 24% of E1 and 100% of EE2 remains associated with the solids fraction in the treated effluent. Further research is necessary to determine whether the low level of estrogen removal for the coastal treatment plant will adversely affect the receiving marine environment

Ureterocele associated with a single collecting system of the involved kidney

Objective. This is a study concerning ureteroceles associated with a single collecting system of the involved kidney.Methods. Over an eight-year period 9 children (5 boys, 4 girls) had a ureterocele subtending a single collecting system, whereas 63 children had duplex ureteroceles. Malformations of other organ systems were present in only I patient.Results. Three patients have undergone surgical interventions: a transureteral incision of bilateral obstructive ureteroceles in I and nephroureterectomy in 2. In 4 cases cystic/dysplastic kidneys involuted and were reabsorbed with collapse of the ureteroceles. The last 2 patients have received antibiotic treatment for single episodes of a urinary tract infection.Conclusions. Earlier reports of a high incidence of concomitant anomalies and male predominance in patients with single-system ectopic ureteroceles could not be verified by our experience. Our current policy for a patient is careful evaluation, individualized therapy, and long-term surveillance.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/31559/1/0000486.pd

Surgical Techniques in Non-Traumatic Midcarpal Instability:Evaluating the Dorsal Capsulodesis and Three-Ligament Tenodesis Technique

BACKGROUND: Surgical management of midcarpal instability (MCI), also referred to as carpal instability nondissociative, remains controversial due to limited evidence on different techniques. This study aimed to assess and compare differences in patient-reported pain, hand and wrist function, patient satisfaction, range of motion, and return to work in patients with non-traumatic MCI who underwent surgical treatment either through dorsal wrist capsulodesis or three-ligament tenodesis (3LT).METHODS: Patients with MCI and persisting complaints after conservative therapy treated with 3LT or dorsal capsulodesis were included. Patients with posttraumatic instability were excluded. Primary endpoints included the Patient Rated Wrist Evaluation (PRWE) and Satisfaction with Treatment Result Questionnaire at 12 months postoperative. All data were retrospectively analyzed.RESULTS: A total of 91 patients treated with dorsal capsulodesis and 21 treated with 3LT between December 2011 and December 2019 were included. At twelve months postoperative, both treatment groups reported significant improvements in pain and function scores. However, at three months postoperative, the dorsal capsulodesis group exhibited significantly better outcomes, followed by a greater return to work (72%) compared to the 3LT group (50%). However, the capsulodesis group demonstrated a decreased range of motion at three months which was restored at 12 months postoperative. No significant difference in satisfaction with treatment was observed.CONCLUSIONS: Both 3LT and dorsal capsulodesis demonstrate promising results for addressing non-traumatic MCI. However, considering the quicker recovery and faster return to work associated with dorsal capsulodesis, we recommend favoring capsulodesis over 3LT when both surgical options are deemed suitable for the patient.LEVEL OF EVIDENCE: III.</p

Factors affecting return to work after surgical treatment of trapeziometacarpal joint osteoarthritis

This study aimed to identify factors contributing to the timing of return to work after surgical treatment of trapeziometacarpal joint osteoarthritis and to calculate the costs of lost productivity. We included 627 patients with paid employment who underwent trapeziectomy and ligament reconstruction with tendon interposition. Time to return to work was measured through filling online questionnaires and analysed using survival analysis at 6 weeks and 3, 6 and 12 months after the surgery. Patients also filled in the Michigan Hand Outcomes Questionnaire. Costs of lost productivity were calculated using the human capital method. After 1 year, 78% of the patients returned to work. The median time to return to work was 12 weeks. Factors that significantly affected the time to return to work were occupational intensity (light, moderate or heavy physical labour), whether the dominant hand was treated and the Michigan Hand Outcomes Questionnaire work score and hand functi

Rare and Complex Urology: Clinical Overview of ERN eUROGEN

Background: In 2017, the European Commission launched 24 European Reference Networks (ERNs). ERN eUROGEN is the network for urorectogenital diseases and complex conditions, and started with 29 full member healthcare providers (HCPs) in 11 countries. It then covered 19 different disease areas distributed over three workstreams (WSs). Objective: To provide an overview and identify challenges in data collection at European level of the ERN eUROGEN patient population treated by HCPs in the network. Design, setting, and participants: A retrospective cohort study was conducted of the 29 HCPs who were full members between 2013 and 2019. Outcome measurements and statistical analysis: Data were extracted from the original HCP applications and the ERN continuous monitoring system. Patient volumes, new patient numbers, and procedures were compared between different WSs, countries, and HCPs. Discrepancies between monitoring and application data were identified. Results and limitations: Between 2013 and 2019, 122 040 patients required long-term care within the 29 HCPs. The volume of patients treated and procedures undertaken per year increased over time. Large discrepancies were found between patient numbers contained in the application forms and those reported in the continuous monitoring system (0–1357% deviation). Conclusions: Patient numbers and procedures increased across ERN eUROGEN HCPs. Reliable data extraction appeared challenging, illustrated by the patient volume discrepancies between application forms and the continuous monitoring data. Improved disease definitions, re-evaluation of affiliated HCPs, and valid data extraction are needed for future improvements. Patient summary: We analysed the patient population with rare urorectogenital diseases or complex conditions within the ERN eUROGEN network between 2013 and 2019. Clinical activity was found to increase, but differences in patient numbers were evident between healthcare providers. In order to acquire valid patient numbers, both improved definitions of diagnostic codes and greater insight into the data-gathering process are required

The Ginninderra CH4 and CO2 release experiment: An evaluation of gas detection and quantification techniques

A methane (CH4) and carbon dioxide (CO2) release experiment was held from April to June 2015 at the Ginninderra Controlled Release Facility in Canberra, Australia. The experiment provided an opportunity to compare different emission quantification techniques against a simulated CH4 and CO2 point source release, where the actual release rates were unknown to the participants. Eight quantification techniques were assessed: three tracer ratio techniques (two mobile); backwards Lagrangian stochastic modelling; forwards Lagrangian stochastic modelling; Lagrangian stochastic (LS) footprint modelling; atmospheric tomography using point and using integrated line sensors. The majority of CH4 estimates were within 20% of the actual CH4 release rate (5.8 g/min), with the tracer ratio technique providing the closest estimate to both the CH4 and CO2 release rates (100 g/min). Once the release rate was known, the majority of revised estimates were within 10% of the actual release rate. The study illustrates the power of measuring the emission rate using multiple simultaneous methods and obtaining an ensemble median or mean. An ensemble approach to estimating the CH4 emission rate proved successful with the ensemble median estimate within 16% for the actual release rate for the blind release experiment and within 2% once the release rate was known. The release also provided an opportunity to assess the effectiveness of stationary and mobile ground and aerial CH4 detection technologies. Sensor detection limits and sampling rates were found to be significant limitations for CH4 and CO2 detection. A hyperspectral imager’s capacity to image the CH4 release from 100 m, and a Boreal CH4 laser sensor’s ability to track moving targets suggest the future possibility to map gas plumes using a single laser and mobile aerial reflector