Assessment of long-term quality of life, bowel and voiding function outcomes in patients with anorectal malformation at a single UK centre.

AIMS: Assess long-term quality of life (QoL), bowel and voiding function in anorectal malformation (ARM) paediatric patients. METHOD: Retrospective review of ARM patients between 2007 and 2020 was performed. QoL (all patients), bowel and voiding function (> 5 yo) were assessed using the paediatric quality of life inventory (PedsQL), paediatric incontinence and constipation score (PICS) and dysfunctional voiding scoring system (DVSS), respectively. RESULTS: There were 122 patients (49% female, 85 > 5 yo) with ARM. Two had died, four refused, twenty-two were non-contactable, leaving ninety-four patients (65 > 5 yo) included. Mean age was 89 months (19-183), and follow-up was 86 months (13-183). Patients had significantly poorer scores for QoL, bowel and voiding function compared to published healthy controls. 57% had poor bowel function, 32% had poor voiding function and 38% required 'ancillary aids' to facilitate function. Patients using 'ancillary aids' for voiding function had a significantly lower QoL (parent: 62 vs 77; p = 0.01, patient: 66 vs 79; p = 0.05). Bowel continence was worse in those with high vs low ARM (13 vs 20, p = 0.004) and timely vs delayed diagnosis (17 vs 24, p = 0.04). CONCLUSION: Patients with ARM have significantly worse QoL, bowel and voiding function than normal healthy controls. There is a need for long-term monitoring of function and further support for these children. LEVEL OF EVIDENCE: III.

Upper Gastrointestinal Screening of Polyp Load in Children With Familial Adenomatous Polyposis: Is It Required?

Objectives and study: Patients with familial adenomatous polyposis (FAP) have a propensity to form not only large bowel polyps but also upper gastrointestinal (GI) polyps with malignant potential. International guidance suggests that upper GI screening need not begin until patients are at least into their twenties. It is our experience that patients develop upper GI polyps long before this point which have the potential for malignant change. Methods: A prospective record of all upper GI endoscopies in children (aged 9 to 17) with FAP was kept across a 12-year period by 1 surgeon in our center. For each scope performed, we recorded the location, histology, and treatment of upper GI polyps. Results: Twent-eight patients aged 9 to 17 underwent a total of 48 esophagogastroduodenoscopies across a 12-year period. Thirty-eight esophagogastroduodenoscopies (79%) identified at least 1 gastric or duodenal polyp in 22 (79%) patients; 10 (36%) patients had gastric adenomas. Eight (29%) patients showed very high numbers of polyps. All 21 patients who had duodenal polyps had adenomas. None had yet developed malignancy, but 1 patient required extensive polyp excision and one is awaiting endoscopic mucosal resection. Conclusion: Our results demonstrate that young people with FAP are at the risk of developing upper GI polyps long before current guidance suggests screening the upper GI tract. We advocate for screening of the upper GI tract to start along with colonoscopy and happen at the same sitting for pediatric and young adult patients with FAP.

A unique blue spot.

We report the unusual case of a 3-year-old child with a Mongolian blue spot present both around the auricle externally and on the tympanic membrane itself.

Image-guided prostate biopsy using magnetic resonance imaging-derived targets: a systematic review.

CONTEXT: Technical improvements in prostate magnetic resonance imaging (MRI) have resulted in the use of MRI to target prostate biopsies. OBJECTIVE: To systematically review the literature to compare the accuracy of MRI-targeted biopsy with standard transrectal biopsy in the detection of clinically significant prostate cancer. EVIDENCE ACQUISITION: The PubMed, Embase, and Cochrane databases were searched from inception until December 3, 2011, using the search criteria 'prostate OR prostate cancer' AND 'magnetic resonance imaging OR MRI' AND 'biopsy OR target'. Four reviewers independently assessed 4222 records; 222 records required full review. Fifty unique records (corresponding to 16 discrete patient populations) directly compared an MRI-targeted with a standard transrectal approach. EVIDENCE SYNTHESIS: Evidence synthesis was used to address specific questions. Where MRI was applied to all biopsy-naive men, 62% (374 of 599) had MRI abnormalities. When subjected to a targeted biopsy, 66% (248 of 374) had prostate cancer detected. Both targeted and standard biopsy detected clinically significant cancer in 43% (236 or 237 of 555, respectively). Missed clinically significant cancers occurred in 13 men using targeted biopsy and 12 using a standard approach. Targeted biopsy was more efficient. A third fewer men were biopsied overall. Those who had biopsy required a mean of 3.8 targeted cores compared with 12 standard cores. A targeted approach avoided the diagnosis of clinically insignificant cancer in 53 of 555 (10%) of the presenting population. CONCLUSIONS: MRI-guided biopsy detects clinically significant prostate cancer in an equivalent number of men versus standard biopsy. This is achieved using fewer biopsies in fewer men, with a reduction in the diagnosis of clinically insignificant cancer. Variability in study methodology limits the strength of recommendation that can be made. There is a need for a robust multicentre trial of targeted biopsies.

Comparison of kinetic Monte Carlo and molecular dynamics simulations of diffusion in a model glass former.

We present results from kinetic Monte Carlo (KMC) simulations of diffusion in a model glass former. We find that the diffusion constants obtained from KMC simulations have Arrhenius temperature dependence, while the correct behavior, obtained from molecular dynamics simulations, can be super-Arrhenius. We conclude that the discrepancy is due to undersampling of higher-lying local minima in the KMC runs. We suggest that the relevant connectivity of minima on the potential energy surface is proportional to the energy density of the local minima, which determines the "inherent structure entropy." The changing connectivity with potential energy may produce a correlation between dynamics and thermodynamics.