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A newborn (5 h old) quarter horse colt was presented because of lethargy and severe abdominal distention. Uroperitoneum was suspected during initial workup, based on sonographic imaging and peritoneal fluid analysis. Definitive diagnosis was confirmed during exploratory celiotomy. Surgery revealed a congenitally abnormal allantoic stalk/urachal remnant and a failure of embryological fusion of the dorsal bladder wall. Recovery was successful and the animal is now a healthy, 4-year-old western performance gelding. These specific congenital abnormalities have not been previously documented in the peer-reviewed literature. Key clinical message: Congenital abnormalities of the urachus and the urinary bladder should be suspected in foals with uroperitoneum at birth. Cases involving congenital abnormalities of the urachus and urinary bladder might have favorable prognoses if animals retain adequate function of the urogenital tract and do not have secondary complications before and following surgery., (Copyright and/or publishing rights held by the Canadian Veterinary Medical Association.)

Introduction: Acquired bladder diverticula (BD) are associated with bladder outlet obstruction. The aim of our study is to analyse the improvement in lower urinary tract symptoms (LUTS) in patients who underwent robot-assisted bladder diverticulectomy (RABD) combined with transurethral prostatectomy (TURP)., Material and Methods: A prospectively single-centre, single surgeon cohort of four patients with posterolateral BD due to bladder outlet obstruction (BOO) undergoing RABD combined with TURP between 2018 and 2023 was analysed., Results: Median age and maximum BD diameter were 73.5 years and 16 cm, respectively. All patients had severe LUTS and elevated postvoid residual (PVR). Preliminary uroflowmetry revealed bladder outlet obstruction with a median of maximum urine flow rate of 8.5 ml/s. The median operative time and blood loss were 212 min and 100 ml, respectively. No intraoperative complications were recorded. The median length of stay was 4 days. The International Prostate Symptom Score (IPSS) and PVR were compared between baseline, 1 month and 6 months after surgery. IPSS significantly decreased from 24 (IQR 24-25) preoperatively compared to the postoperative, at 1 month follow up 7 (IQR 6-8) ( p  < 0.0001). PVR significantly decreased too from 165 (IQR 150-187) to 35 ml (IQR 25-42) ( p  < 0.0001). In transitioning from the 1-month follow-up to the 6-month follow-up, no substantial statistical improvement was observed., Conclusion: Concomitant performance of TURP with RABD is feasible and safe. Diverticulectomy in addiction at the endoscopic procedure should be discussed with patients who have obstructive lower urinary tract symptoms as viable alternative to single procedure individually performed., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article.

Background: Girls with cloacal malformation are at risk of bladder dysfunction, with nearly 90% exhibiting some degree of dysfunction. Surgical dissection, particularly with total urogenital mobilization (TUM), has been hypothesized as a cause of worsening bladder function despite this population commonly having associated vertebral and spinal cord abnormalities that may also explain bladder dysfunction. More recently there has been great effort to select the appropriate surgical technique for cloacal repair in each patient in order to minimize dissection and potential damage to the bladder. We aimed to evaluate the effect of surgical cloacal repair on bladder function based on pre and post-surgery urodynamics (UDS) testing., Methods: A prospectively collected database of patients with anorectal malformation at a single center was queried for girls with cloacal malformations who had undergone surgical repair from 2015 to 2022. It is our current protocol to perform UDS before and after cloacal repair. Only patients who completed both pre and post-surgery UDS were included. UDS were evaluated and classified using the UMPIRE protocol., Results: A total of 48 patients were included in the cohort. The majority of patients (79.2%) had stable or improved UDS post-op leaving 10 patients (20.8%) who had worsening UDS. Long common channel (≥3 cm) was the only factor significantly associated with worsening UDS. (p = 0.03) Nearly 30% (n = 8) of those undergoing UGS had worse post-op UDS compared to 9.5% (n = 2) with TUM. All patients who worsened UDS initially had safe UDS that changed to intermediate, except for one who worsened to hostile in the setting of significant social challenges and non-compliance. Only common channel length was predictive of worsening UDS, while the type of surgical approach and spine status were not. While the overall risk of worsening UDS after TUM is only 9.5%, patients with normal spines undergoing TUM had the lowest risk, seen in only one in 15 patients (6.6%)., Conclusions: Common channel length was the most significant predictor of worsening UDS, while spine status and surgical technique (TUM vs UGS) did not significantly impact this finding. By following this established surgical protocol based on common channel and urethral lengths, is rare for the surgical cloacal repair to result in worsening post-op UDS, particularly in those undergoing TUM for short common channel and normal spine., Competing Interests: Conflicts of interest None., (Copyright © 2024 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Purpose: This case series describes the experiences and outcomes of multiple Australian surgeons performing robotic-assisted bladder diverticulectomy (RABD), highlighting the procedural effectiveness and safety, for both benign and malignant indications for diverticulectomy. Methods: Outcomes were analyzed from 13 experienced Australian urologists who performed RABD between 2016 and 2023. Retrospective analysis was performed on prospectively collected data, which included patient demographics, diverticulum characteristics, surgical approaches, and post-operative outcomes. Surgical techniques included the extravesical and intravesical approaches, with the focus on maintaining oncological principles in cases of malignancy. Results: A total of 28 patients underwent RABD, with the majority being male and a mean age of 63.9 years. All surgeons utilized a four-port transperitoneal approach and opted for the extravesical dissection of the diverticular neck; one case utilized both an extravesical and a trans-diverticular approach. Functional outcomes demonstrated symptomatic resolution in patients with nonmalignant diverticula, whereas oncological outcomes indicated clear margins in 90% of malignant cases. The average length of the procedure was 106 minutes, with minimal blood loss and a mean hospital stay of 2.67 days. Early complications occurred in 14% with the majority Clavien-Dindo grade II. Conclusion: Robotic bladder diverticulectomy, predominantly via the transperitoneal extravesical approach, has emerged as a safe, effective, and reliable surgical intervention for both malignant and nonmalignant bladder diverticula. The consistent surgical approach and excellent outcomes demonstrated in this case series reinforce the procedure's potential as a safe option, even in the setting of malignancy within a diverticulum.

Background: Bladder duplication is a rare congenital lower urinary tract anomaly disease characterized by the presence of two bladders, possibly with duplication of the urethra. This disease is rarely reported in cats. The clinical symptoms are commonly occult, with increased difficulty in making a definitive diagnosis, especially if there is no obvious urethral duplication. The diagnosis is typically based on radiographs and ultrasound, with computer tomography serving as a more advanced imaging diagnostic modality. Cases of duplicated bladders with accessory tubular tissues are even scarcer in both human and veterinary medicine., Case Presentation: A 6-year-old male neutered cat was brought to the hospital because of vomiting and constipation. Cystography revealed increased soft tissue density of a fusiform structure in the lower middle abdomen. The purulent-filled cavitary structure and the accessory tubular structure were removed via surgery, and histopathological examination confirmed a double bladder with attached accessory tubular tissue. After antibiotic treatment, the cat recovered uneventfully., Conclusion: This is the first case of bladder duplication in China and the first case of feline bladder duplication with tubular structure attachment in the world. This information will provide a reference for the diagnosis and treatment of similar cases in the future., (© 2024. The Author(s).)

Obturator vein usually terminates into the internal iliac vein. Its variations are the cause major bleeding problems in pelvic surgeries. We observed a rare variation in the termination of the right obturator vein. There was a duplication of right obturator vein. Both obturator veins entered the pelvic cavity through the obturator foramen and joined with two vesical veins to form a vesico-obturator plexus. This plexus surrounded the internal iliac artery and terminated into the internal iliac vein. Awareness of this rare variation could be of importance to anatomists, radiologists, gynaecologists, urologists, and orthopaedic surgeons. The plexus might lead to hazardous bleeding in pelvic lymph node clearance procedures, hernia surgeries, gynaecological and orthopaedic procedures in this region. The pelvic fractures too can provoke dramatic retroperitoneal hematomas related to these veins injuries., (© 2024. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)

Congenital true diphallia, complete duplicate bladder, bladder exstrophy, and anorectal malformation in a child are uncommon. Here, we present the case of a 3-year-old boy with multiple genitourinary malformation, including true diphallia, complete duplicate bladder, bladder exstrophy, epispadias, and anorectal malformation. Multi-departmental collaborative treatment for complex conditions ultimately achieved an ideal appearance for this patient. All vital signs were stable after the surgery and they remained consistent during follow-up. In such cases, surgical correction is individualized to achieve adequate urinary continence and erection with adequate esthetics., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Hirschsprung disease (HSCR) and its associated disorders (AD-HSCR) often result in severe hypoperistalsis caused by enteric neuropathy, mesenchymopathy, and myopathy. Notably, HSCR involving the small intestine, isolated hypoganglionosis, chronic idiopathic intestinal pseudo-obstruction, and megacystis-microcolon-intestinal hypoperistalsis syndrome carry a poor prognosis. Ultimately, small-bowel transplantation (SBTx) is necessary for refractory cases, but it is highly invasive and outcomes are less than optimal, despite advances in surgical techniques and management. Thus, regenerative therapy has come to light as a potential form of treatment involving regeneration of the enteric nervous system, mesenchyme, and smooth muscle in affected areas. We review the cutting-edge regenerative therapeutic approaches for managing HSCR and AD-HSCR, including the use of enteric nervous system progenitor cells, embryonic stem cells, induced pluripotent stem cells, and mesenchymal stem cells as cell sources, the recipient intestine's microenvironment, and transplantation methods. Perspectives on the future of these treatments are also discussed., (© 2023. The Author(s) under exclusive licence to Springer Nature Singapore Pte Ltd.)

Purpose: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is defined as a congenital visceral myopathy with genetic mutations. However, the etiology and pathophysiology are not fully understood. We aimed to generate a gene leiomodin-1a (lmod1a) modification technique to establish a zebrafish model of MMIHS., Methods: We targeted lmod1a in zebrafish using CRISPR/Cas9. After confirming the genotype, we measured the expression levels of the target gene and protein associated with MMIHS. A gut transit assay and spatiotemporal mapping were conducted to analyze the intestinal function., Results: Genetic confirmation showed a 5-base-pair deletion in exon 1 of lmod1a, which caused a premature stop codon. We observed significant mRNA downregulation of lmod1a, myh11, myod1, and acta2 and the protein expression of Lmod1 and Acta2 in the mutant group. A functional analysis of the lmod1a mutant zebrafish showed that its intestinal peristalsis was fewer, slower, and shorter in comparison to the wild type., Conclusion: This study showed that targeted deletion of lmod1a in zebrafish resulted in depletion of MMIHS-related genes and proteins, resulting in intestinal hypoperistalsis. This model may have the potential to be utilized in future therapeutic approaches, such as drug discovery screening and gene repair therapy for MMIHS., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Multiple variants of classic bladder exstrophy have been described, all of them infrequent. Superior vesical fissure is a mild variant of this pathology in which genital involvement is scarce or absent. To date, there are only isolated reports of this entity. We report a full-term female patient of Arabian descent with a clinical and radiological diagnosis of superior vesical fissure that was surgically corrected in our center with a favorable evolution. Histological study, supported by immunohistochemical techniques, showed squamous and transitional epithelium and discrete chronic inflammation. Our literature review identified 26 reports of superior vesical fissure (including ours), with high heterogeneity in terms of clinical characterization and associated malformations and with only two histological reports. The clinical evolution of the patients reported in the literature was favorable, with lower morbidity and mortality than in classical forms of bladder exstrophy., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Multiple factors impact ability to achieve urinary continence in cloacal malformation including common channel (CC) and urethral length and presence of spinal cord abnormalities. Few publications describe continence rates and bladder management in this population. We evaluated our cohort of patients with cloacal malformation to describe the bladder management and continence outcomes., Methods: We reviewed a prospectively collected database of patients with cloacal malformation managed at our institution. We included girls ≥3 years (y) of age and evaluated their bladder management methods and continence. Dryness was defined as <1 daytime accident per week. Incontinent diversions with both vesicostomy and enterovesicostomy were considered wet., Results: A total of 152 patients were included. Overall, 93 (61.2%) are dry. Nearly half (47%) voided via urethra, 65% of whom were dry. Twenty patients (13.1%) had incontinent diversions. Over 40% of the cohort performed clean intermittent catheterization (CIC), approximately half via urethra and half via abdominal channel. Over 80% of those performing CIC were dry. In total, 12.5% (n = 19) required bladder augmentation (BA). CC length was not associated with dryness (p = 0.076), need for CIC (p = 0.253), or need for abdominal channel (p = 0.497). The presence of a spinal cord abnormality was associated with need for CIC (p = 0.0117) and normal spine associated with ability to void and be dry (p = 0.004) CONCLUSIONS: In girls ≥ 3 y of age with cloacal malformation, 61.2% are dry, 65% by voiding via urethra and 82% with CIC. 12.5% require BA. Further investigation is needed to determine anatomic findings associated with urinary outcomes., Level of Evidence: IV., Competing Interests: Conflict of interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Introduction and Aim: Posterior urethral valves (PUV) are often associated with bladder dysfunction. Our primary aim was to investigate bladder status following primary valves resection to gather evidence of function and to guide early clinical management., Patients and Methods: Between July 2015-2020, we prospectively evaluated bladder function of PUV infants. Primary outcomes measured were number of voids, voided volume (VV), post-void residual (PVR) and bladder capacity (BC). Statistical comparisons and descriptive analysis were carried out between groups using 2-tails T test and Chi square test using an IBM SPSS Statistics program version 25., Results: Sixty-one infants were included. Median age at resection was 28 days (5 days-11 months). In thirty-eight patients (62%) diagnosis was suspected antenatally. Vesico-ureteric reflux (VUR) was present in 16 (26%). The 4-h observational study was performed at median 4 days following primary cold-knife valve resection and 1 day (range from 1 to 12 days) after catheter removal. Infants voided an average 6 times (2-13 voids). Bladder capacity was large in 20 (33%) and small in 4 (6.5%) patients with a median ratio BC/eBC = 1.2 (0.49-22.6). Median residual urine was 9 mls but with great variability among the cohort (0-121 mls). A big variability in bladder emptying was noted between patients and between voids performed in one patient. In 13 infants (21%) average PVR was larger than the average voided volume. In 26 (42.6%) PVR was larger than VV at least once. Thirty-eight infants (62.3%) emptied their bladders almost completely at least once (with PVR <5 mls). No difference was found in PVR, Median BC/EBC and PVR/BC between infants with and without VUR (p = 0.654, P: 0.594 and p = 00.481, respectively)., Discussion: We presented our experience of non-invasive bladder function assessment in infants affected by PUV following primary valve resection. An interesting data is the great variability identified both between patients and between voids performed in a single patient. Average number of voids was similar to the voiding pattern in healthy newborns what reported by Gladh but variability was greater. We observed up to 13 voids in some infants and we can speculate this could reflect the presence of an overactive bladder. We observed at least 1 complete emptying in only 62% of infants and 21% of the cohort had PVR bigger than VV. In almost half of the infants (42.6%) PVR was larger than VV at least once., Conclusions: Around 40% of infants affected by PUV have abnormal bladder capacity and almost half of them have significant post void residuals following primary resection. Although controversies and limitations are present, we believe that this non-invasive study can provide valuable information to understand the dynamic of the bladder, particularly in children affected by PUV and allow early intervention in children considered "at risk". Having a non invasive way of assessing can help tailor intervention and be useful for future research into early bladder intervention and improving outcomes., (Copyright © 2024 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Purpose: This study describes the management of urinary incontinence (UI) in eight girls with congenital pouch colon (CPC) associated with anorectal malformation (ARM)., Methods: From 2013 to 2015, six girls with CPC and UI underwent bladder neck reconstruction (BNR). Four girls had complete UI (CUI) and two girls partial UI (PUI). From 2019 to 2023, four girls, including two with failed BNR, underwent bladder neck closure (BNC) and augmentation cystoplasty (AC) with a continent stoma. Subtypes of CPC were Complete CPC (n = 7) and Incomplete CPC (n = 1). All girls had a double vagina; short, wide urethra; and reduced bladder capacity with an open, incompetent bladder neck (BNI). During BNR, a neourethra was constructed from a 1.5-2 cm-wide and 1.5-3-cm-long trigonal strip. During BNC, AC was performed using a 20 cm ileal segment (n = 3) and by a colonic pouch segment, preserved during earlier colorraphy (n = 1). Continent stoma included a Monti's channel (n = 3) and appendicovesicostomy (n = 1)., Results: BNR produced moderate improvement of UI (n = 2), while UI was still very severe (n = 4). During BNC, intraoperative complications included iatrogenic vaginal tears (n = 4). Early complications included partial dehiscence of the ileocystoplasty (n = 1), partial adhesive small bowel obstruction (n = 1), and difficulty in stomal catheterization with prolonged drainage from the pelvic drain (n = 1). Late complications included unilateral grade II vesicoureteric reflux (n = 2) and vesicovaginal fistula (VVF) (n = 2) needing trans-vaginal closure in one girl. Urinary stones (n = 2) with stomal leakage of urine in one girl needed open cystolithotomy twice (n = 1), and endoscopic lithotripsy (n = 1). At follow-up, all patients have high overall satisfaction with the procedure and their continence status., Conclusions: BNC with AC and a catheterizable stoma satisfactorily achieves continence in girls with CPC and UI, vastly improving quality of life. If lower urinary tract (LUT) anatomy is favorable, BNR with/without AC can be the initial surgical procedure. BNC should be the primary procedure in girls with unfavorable LUT anatomy and for failed BNR., Level of Evidence: IV., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: As bladder diverticula in older adults are often secondary to bladder outlet obstruction, bladder diverticulectomy is often performed with prostate treatment. Cases of sequentially performed robot-assisted bladder diverticulectomy and prostatectomy have been reported; however, performing cystotomy for each procedure may increase the risk of complications and prolong operative time., Materials and Surgical Technique: We reported the cases of three patients who underwent diverticulectomy without additional cystotomy via the bladder opening during robot-assisted laparoscopic radical prostatectomy in our hospital., Discussion: This technique corresponds to a transvesical approach through the bladder neck opening. Hence, it is especially useful for well-visualized diverticula close to the ureteral orifice or on the posterior wall. Although other approaches may be better depending on the location of the diverticulum, it is considered a reasonable approach that does not require an additional cystotomy., (© 2024 Asia Endosurgery Task Force and Japan Society of Endoscopic Surgery and John Wiley & Sons Australia, Ltd.)

In a 32-y-old man with neurofibromatosis type 1, 18 F-FDG PET/CT incidentally revealed a vesicourachal diverticulum, a rare anatomic variant. The PET/CT, performed for staging a malignant peripheral nerve sheath tumor, highlighted a distinctive 18 F-FDG-avid pattern crucial for accurate diagnosis. Recognizing such features enhances disease assessment and clarifies distinctions between benign urogenital anomalies and malignancies in 18 F-FDG PET/CT staging., (© 2024 by the Society of Nuclear Medicine and Molecular Imaging.)

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles that line the bladder and intestines. The most common genes associated with MMIHS mutations are ACTG2, LMOD1, MYH11, MYL9, MYLK, and PDCL3. However, the complete genetic landscape of MMIHS still needs to be fully understood. The diagnosis of MMIHS can be challenging. However, advances in prenatal and diagnostic techniques, such as ultrasound and fetal urine analysis, have improved the ability to detect the syndrome early. Targeted next-generation sequencing (NGS) and other diagnostic tests can also diagnose MMIHS. The management of MMIHS involves addressing severe intestinal dysmotility, which often necessitates total parenteral nutrition (TPN), which can lead to complications such as hepatotoxicity and nutritional deficiencies. Multivisceral and intestinal transplantation has emerged as therapeutic options, offering the potential for improved outcomes and enteral autonomy. Understanding the genetic underpinnings of MMIHS is crucial for personalized care. While the prognosis varies, timely interventions and careful monitoring enhance patient outcomes. Genetic studies have given us valuable insights into the molecular mechanisms of MMIHS. These studies have identified mutations in genes involved in the development and function of smooth muscle cells. They have also shown that MMIHS is associated with defects in the signaling pathways that control muscle contraction. Continued research in the genetics of MMIHS holds promise for unraveling the complexities of MMIHS and improving the lives of affected individuals., (© 2024. Japanese Society of Gastroenterology.)

Purpose: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal hypoperistalsis, while data on bladder management are scant. Aim of the study is to present urological concerns in MMIHS., Methods: Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years., Results: Six patients were enrolled (3 male, 3 female). Three girls had prenatal diagnosis of megacystis (1 vesicoamniotic shunt was placed). All patients had genetic diagnosis: 5 had ACTG2 gene mutations and 1 MYH11 mutation. All patients were addressed to our attention for urinary symptoms, such as urinary retention, urinary tract infections, acute renal injury. Two patients presented frequent stoma prolapses. All children underwent a complete urological evaluation, and then started a bladder management protocol (clean intermittent catheterization, via urethra or cystostomy-tube placement), with improvement of urinary infections, upper urinary tract dilation and stoma prolapses, if present. All patients had good renal function at last follow-up., Conclusion: We believe that MMIHS patients must be addressed soon and before onset of symptoms for a multidisciplinary evaluation, including an early assessment by a pediatric urologist expert in functional disorder, to preserve renal function at its best., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: To report and compare the outcomes of 3 different techniques of pneumovesicoscopic ureteric reimplantation applied in children., Methods: The study included 178 renal units in 105 patients who underwent pneumovesicoscopic reimplantation between January 2016 and October 2021. Presentation, indication for surgery, surgical technique, operative time, operative details, days of hospitalization and catheterization, and outcome were retrieved from patients' electronic records., Results: The collected data was revised, coded, tabulated, and fed into the computer using the Statistical Package for Social Science (SPSS 25). Data were presented, and the appropriate statistical analysis was performed according to the type of data obtained for each parameter., Conclusion: The pneumovesicoscopic approach to ureteric reimplantation is not inferior to the data reported in the literature for open approach in terms of success rate (94%). In addition, pneumovesicoscopy permits the evaluation of the trigonal anatomy in situ, which can have a significant impact on the selection of the most appropriate surgical technique., Competing Interests: Declaration of Competing Interest No conflict of interest to disclose., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Megacystis-microcolon-hypoperistalsis-syndrome (MMIHS) is a rare and early-onset congenital disease characterized by massive abdominal distension due to a large non-obstructive bladder, a microcolon and decreased or absent intestinal peristalsis. While in most cases inheritance is autosomal dominant and associated with heterozygous variant in ACTG2 gene, an autosomal recessive transmission has also been described including pathogenic bialellic loss-of-function variants in MYH11. We report here a novel family with visceral myopathy related to MYH11 gene, confirmed by whole genome sequencing (WGS). WGS was performed in two siblings with unusual presentation of MMIHS and their two healthy parents. The 38 years-old brother had severe bladder dysfunction and intestinal obstruction, whereas the 30 years-old sister suffered from end-stage kidney disease with neurogenic bladder and recurrent sigmoid volvulus. WGS was completed by retrospective digestive pathological analyses. Compound heterozygous variants of MYH11 gene were identified, associating a deletion of 1.2 Mb encompassing MYH11 inherited from the father and an in-frame variant c.2578&#95;2580del, p.Glu860del inherited from the mother. Pathology analyses of the colon and the rectum revealed structural changes which significance of which is discussed. Cardiac and vascular assessment of the mother was normal. This is the second report of a visceral myopathy corresponding to late-onset form of MMIHS related to compound heterozygosity in MYH11; with complete gene deletion and a hypomorphic allele in trans. The hypomorphic allele harbored by the mother raised the question of the risk of aortic disease in adults. This case shows the interest of WGS in deciphering complex phenotypes, allowing adapted diagnosis and genetic counselling., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder distention in the absence of mechanical obstruction), microcolon and intestinal hypoperistalsis (dysmotility).We are reporting a case of a female child with normal antenatal course who presented with recurrent episodes of abdominal distension since the second day of life and underwent negative exploratory laparotomy on multiple occasions. She also had urinary retention with a grossly distended bladder, requiring drainage by clean intermittent catheterisation. Surgical procedures for bowel decompression, including gastrostomy and ileostomy, were carried out without success. Genetic analysis revealed a mutation in the human smooth muscle (enteric) gamma-actin gene (ACTG2 gene), clinching the diagnosis of MMIHS. The patient was managed with parenteral nutrition and prokinetic medications and tolerated jejunostomy feeds for a brief period before she succumbed to the illness.Female neonates or infants presenting with abdominal distension and dilated urinary tract should be investigated for MMIHS early on. A timely diagnosis will enable the early involvement of a multidisciplinary team to provide the best options available for management., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

A 55-year-old patient was admitted for variceal treatment, a complication of chronic portal hypertension and liver cirrhosis. Imaging studies revealed prominent duodenal varices, the pancreaticoduodenal vein as its afferent pathway, a drainer vessel into the inferior vena cava, and a paraumbilical vein. We successfully performed complete obliteration of the varix, including its afferent and efferent vessels, via the paraumbilical vein approach.

Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article.

Background: Bladder diverticula are herniations of bladder urothelium and mucosa through the muscularis propria. The reported incidence of neoplasia arising in bladder diverticula is widely variable. The authors' objective was to study the characteristics and sensitivity of urine cytology in these patients with emphasis on primary intradiverticular bladder cancer (IDBC)., Methods: A 17-year, retrospective review of all resected bladder diverticula associated with bladder carcinoma was performed. Cases that had complete diverticular resections and preresection urine samples were included in this study. The cases were divided into either primary IDBC or primary extradiverticular bladder cancer (EDBC). Demographic data and urine cytology characteristics were recorded, and sensitivity was calculated. For IDBC, a comparison between voided and cystoscopic urines was done for cases that had both collection methods performed., Results: Of 70 patients with IDBC, 47 patients had urine cytology results that were either positive for high grade-urothelial carcinoma (HG-UC) or suspicious for HG-UC. The sensitivity for HG-UC in IDBC samples was 80%, compared with 82% in EDBC samples (p > .05). Also, 28 patients in the IDBC group had both voided and cystoscopic urine samples for comparisons; in seven patients, the voided urine sample yielded a more definitive diagnosis; in 10 patients, the cystoscopic urine sample yielded a more definitive diagnosis; and, in 11 patients, both samples were equally diagnostic (p > .05)., Conclusions: The characteristics and sensitivity of urine cytology in bladder diverticula were investigated in association with neoplasia, with an emphasis on primary intradiverticular bladder cancer. The results indicated that urine cytology remains a reliable screening and diagnostic test for detecting IDBC, with sensitivity similar to that for detecting EDBC, and no significant difference was noted between voided and cystoscopic samples., (© 2023 American Cancer Society.)

Objective: Fetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO-like initial presentation are poorly understood. Our objectives are to describe single gene etiologies in fetuses initially ascertained to have suspected LUTO and to elucidate genotype-phenotype correlations., Methods: A retrospective case series of suspected fetal LUTO positive for a molecular diagnosis was collected from five centers in the Fetal Sequencing Consortium. Demographics, sonograms, genetic testing including variant classification, and delivery outcomes were abstracted., Results: Seven cases of initially prenatally suspected LUTO-positive for a molecular diagnosis were identified. In no case was the final diagnosis established as urethral obstruction that is, LUTO. All variants were classified as likely pathogenic or pathogenic. Smooth muscle deficiencies involving the bladder wall and interfering with bladder emptying were identified in five cases: MYOCD (2), ACTG2 (2), and MYH11 (1). Other genitourinary and/or non-genitourinary malformations were seen in two cases involving KMT2D (1) and BBS10 (1)., Conclusion: Our series illustrates the value of molecular diagnostics in the workup of fetuses who present with prenatally suspected LUTO but who may have a non-LUTO explanation for their prenatal ultrasound findings., (© 2023 John Wiley & Sons Ltd.)

Background: Duplication of the bladder with duplication of the posterior urethra is a relatively rare congenital malformation. Cases of sagittal septum duplication of the bladder with duplication of the posterior urethra have rarely been reported. Furthermore, the combination thereof with congenital megacolon is rare., Case Presentation: A 21-year-old male was admitted to our hospital because of frequent urination for two months. He presented to another hospital first with frequent urination and underwent computed tomography (CT) and testicular biopsy. Anti-inflammatory therapy was administered by the doctor to the patient. For further diagnosis and treatment, the patient went to the outpatient department in our hospital on June 6, 2022. After admission, the patient underwent ultrasound, CT, MRI, cystoscopy, and other related examinations and tests. The examination results suggested that the patient had duplication of the bladder with duplication of the posterior urethra. In addition, the patient's mother reported that he had suffered from long-term constipation with abdominal distension before the age of 5 years. At the time, he was admitted to the local hospital and was diagnosed with congenital megacolon based on the relevant examinations. After the patient was diagnosed with duplication of bladder and urethra, the doctor recommended surgical treatment to the patient. However, he considered that he only had frequent urination symptoms, and chose conservative treatment rather than to undergo surgical treatment. Thus, the doctor prescribed anti-inflammatory treatment. Four months later, the patient reported that frequent urination symptoms persisted, and was also considering fertility-related problems. The outpatient follow-up will be continued., Conclusions: In this article, we summarize the imaging findings of duplication of the bladder with duplication of the posterior urethra and propose the advantages and disadvantages of each type of imaging examination. We also review the relevant literature on cases of bladders with duplication of the posterior urethra. The related differential diagnosis is summarized, and the significance of guiding clinical treatment and diagnosis is discussed., (© 2024. The Author(s).)

Objective: This study aimed to compare the effects of bladder diverticula smaller than 30 (SD) mm and larger than 30 mm (LD) on bladder functions and urodynamics., Materials and Methods: Our retrospective analysis involved a cohort of 40 pediatric patients diagnosed with primary bladder diverticula., Results: The predicted mean bladder capacity (MBC) was 197.7 ± 95.8 mL, whereas the observed MBC was lower at an average of 170.1 ± 79.6 mL. This indicates that the observed MBC was 88.2 ± 12.9% of the predicted value (percentage). The mean diverticula diameter recorded was 33 ± 19.5 mm, and the diverticula to MBC ratio were calculated to be 0.25 ± 0.18. The distribution of urinary tract infections (UTIs) differed significantly between the groups (p < 0.001). Upper UT dilatation was significantly more common in the LD group (60%, n = 12) than in the SD group (15%, n = 3) (p = 0.003). The mean detrusor pressure (P[detrusor]) was significantly higher in the LD group (137.2 ± 24.1 cm H 2 O) than in the SD group (63.9 ± 5.8 cm H 2 O) (p = 0.001). In addition, the mean peak flow rate (Q max ) was significantly higher in the SD group (20.7 ± 7.9 mL/s) compared to the LD group (12.7 ± 3.8 mL/s) (p < 0.001)., Conclusion: Bladder diverticula size is a significant factor in the clinical presentation and management of primary bladder diverticula in pediatric patients., (Copyright: © 2023 Permanyer.)

Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis., Competing Interests: Conflict of interest The authors have no conflicts of interest relevant to this article., (Copyright © 2023. Published by Elsevier B.V.)

Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article., (Copyright © 2023. Published by Elsevier B.V.)

Background: Congenital lower urinary tract obstruction (LUTO) is a rare but significant condition affecting fetal urinary tract development. LUTO has a range of etiologies, with posterior urethral valves (PUV) being the most common cause. The prenatal diagnosis of LUTO plays a crucial role in recognizing the condition and guiding management decisions. Prenatal ultrasound serves as the primary tool for identifying LUTO, with key findings including megacystis, bladder wall thickening, oligohydramnios, hydronephrosis, and the 'keyhole sign' indicating dilatation of the posterior urethra. We present a case of congenital LUTO with a rare complication of spontaneous fetal bladder rupture and urinary ascites, treated by peritoneo-amniotic shunt placement., Case Presentation: A 27-year-old pregnant Caucasian women was referred at 28 weeks of pregnancy due to the presence of megacystis and bilateral hydronephrosis on routine ultrasound and suspicion of LUTO. Repeat ultrasound at 29 weeks showed significant fetal ascites, oligohydramnios and resolution of megacystis and hydronephrosis, after which diagnosis of spontaneous bladder rupture was made. Despite ascites aspiration and amnio-infusion, there was persistent ascites and oligohydramnios. A peritoneo-amniotic shunt was placed with resolution of ascites and normalization of the amniotic fluid volume. At 35 weeks, relapse of the megacystis was observed with bilateral pyelectasis and oligohydramnios, possibly due to healing of the bladder rupture, after which elective cesarean section was planned. Cystography confirmed spontaneous healing of the bladder rupture and the presence of posterior urethral valves, which were resected in the neonatal period with cold knife incision. Total follow-up of 8 years continued to show positive ultrasonographic results and good renal function, but the child suffers from bladder dysfunction, manifesting as overactive bladder disease., Conclusions: LUTO might lead to important renal dysfunction and pulmonary hypoplasia in case of increasing disease severity. Spontaneous bladder rupture might improve renal prognosis, acting as a pop-off mechanism by decompression of the urinary tract. However, fetal bladder rupture is rare and only few cases have been reported. Prenatal intervention can be considered for moderate or severe LUTO, but the benefit for long-term outcome remains uncertain and further studies are needed., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Introduction: Intrauterine vesicoamniotic shunting (VAS) using a Somatex® shunt was shown to significantly affect survival of male fetuses with megacystis in suspected lower urinary tract obstruction (LUTO) [Figure 1]. Data on postnatal surgical management and complications are largely lacking., Objective: To describe the postnatal management of patients with prenatal VAS for megacystitis in suspected severe LUTO., Study Design: All male newborns with previous intrauterine VAS using a Somatex® shunt treated in our institution were retrospectively analyzed. We evaluated the spectrum of urethral pathologies and postnatal surgical management, especially focusing on shunt removal., Results: Between 2016 and 2022, 17 patients (all male) were treated postnatally in our institution after VAS for suspected severe LUTO. Five fetuses with dislocated shunts underwent re-implantation in utero. Overall, premature birth before the 38th week of gestation was observed in eight patients (8/17). Seven shunts could be removed without further anesthesia as a bedside procedure. Ten patients required surgical shunt removal under general anesthesia due to migration (59%). Laparoscopic shunt extraction was performed in 8/10 cases. Most frequently, dislocated shunts were located incorporated in the detrusor in eight cases and the removal required a bladder suture in 2/8 patients. In one case, the shunt was removed from the abdominal wall and in one case from the intestine wall [Figure 2]. Posterior urethral valves were found in 8/17 patients, 6/17 patients showed a urethral atresia and one patient had urethral duplication. In two patients, we identified a high grade bilateral vesicoureteral reflux without LUTO., Conclusion: In our observation, more than half of the newborns with megacystis in suspected LUTO require a shunt removal surgery after early VAS using a Somatex® shunt. Urethral atresia may be found more frequently in these patients. These data should be taken into consideration for prenatal counselling of parents and planning of postnatal management., Competing Interests: Conflicts of interest None., (Copyright © 2023 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Introduction: The vesico-allantoic cyst is a communication between the fetal bladder and the allantois through a patent urachus. Case Report: We describe a 17-week of gestational age (WGA) fetus with a 40 x 30 mm vesico-allantoic cyst. At 19 WGA, ultrasound (US) detected bilateral dilatation of renal pelvis (5-6 mm), hydroureters, and hypospadias. Amniotic fluid, umbilical cord flow, and fetal biometry were regular. Due to uncertain prognosis, the parents opted for legal termination of pregnancy. Autopsy confirmed the prenatal findings, also revealing intestinal malrotation and Meckel's diverticulum. Discussion/Conclusion: Probably an initial urinary tract obstruction occurred, not yet affecting the amniotic fluid volume, but evident as pyelectasis. This case highlights the possibility that genito-urinary and intestinal anomalies may be found in association with the vesico-allantoic cyst.

Bladder duplication is an extremely rare congenital anomaly of the urinary system that is more frequent in boys; the literature is limited to case reports and case series. We describe two cases of bladder duplication in two infant girls with an uncommon variant of complete sagittal septum not included in the Abrahamson classification. The diagnosis was made using magnetic resonance urography, combining excellent anatomical information and static and dynamic evaluation of the urinary tract. The diagnostic information provided by MR-urography was confirmed on surgical exploration. These cases provide an opportunity for paediatric radiologists and urologists to learn more about bladder duplication and improve their diagnosis of this rare condition., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%-3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in regions linked to known syndromes, two findings involved the same gene (MCC), and all other findings were unique. A closer analysis suggests a few gene networks that are involved in the pathogenesis of bladder exstrophy; the WNT-signaling pathway, the chromosome 22q11 region, the RIT2 and POU families, and involvement of the Golgi apparatus. Bladder exstrophy is a rare malformation and is reported to be associated with several chromosome aberrations. Our data suggest involvement of some specific molecular pathways., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Objective: To present a case series of the exstrophy-epispadias complex (EEC) with isolated ectopic bowel segment (IEBS) with the literature review, highlighting the clinical findings and treatments., Materials and Methods: We present 3 cases of bladder exstrophy (BE) with IEBS in our institute and reviewed the literature in PubMed with the terms "("bladder exstrophy" OR "epispadias") AND ("visceral sequestration" OR "sequestered" OR "ectopic bowel").", Results: There were 2 males and 1 female. The IEBS was detected by physical examination in 2 cases and by ultrasonography in another one. All cases were BE accompanying with lower abdominal mass which adhered to the bladder wall but was separated from the digestive system. All cases underwent the IEBS excision and BE repair simultaneously. Pathological result of IEBS suggested the histological structures of colon. There were totally 13 cases of EEC with IEBS reported in the literature, including 2 (15%) epispadias, 9 (69%) covered BE, 1 (8%) duplicate BE and 1 (8%) classic bladder exstrophy. Although their clinical manifestations were various, IEBS excision were safely conducted in all cases., Conclusion: EEC with IEBS is an extremely rare congenital malformation. Physical and imaging examinations are important for diagnoses. Surgical excision is safe and effective for managing IEBS., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis., Materials and Methods: Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed., Results: Four cases showed mutations in the α3 and β4 nicotinic acetylcholine receptor (ηAChR) subunits (CHRNA3 and CHRNB4, respectively) on chromosome 15q24. The 5th case had a delayed clinical presentation of intussusception at 11 months and showed a novel missense mutation in ATP2B4 on Chromosome 1q32., Conclusion: The first four patients showed a previously identified mutation. The 5th patient shows a novel mutation in ATP2B4. This novel gene was associated with a less severe presentation and increases success of multiorgan transplant than the other four patients. This highlights how identifying various mutations may impact prognosis and clinical treatment plans for MMIHS patients.

Iliac vein compression syndrome is a rare disorder that causes oedema of one or both legs, with or without thrombosis. This current case report describes a 71-year-old male patient with left iliac vein compression caused by a bladder diverticulum that occurred secondary to chronic prostatic hyperplasia. The patient presented with left leg oedema without deep vein thrombosis. Contrast-enhanced computed tomography of the abdomen and pelvis, Doppler ultrasound imaging of the lower limb veins and magnetic resonance imaging helped confirm the diagnosis. The patient initially underwent urinary catheter placement, which relieved urinary retention and iliac vein compression. He subsequently underwent bladder diverticulectomy and transurethral prostatectomy. The postoperative clinical course was uneventful. During the 1.5-year follow-up, the patient did not have lower extremity oedema. Bladder diverticulum is an extremely rare cause of iliac vein compression syndrome, and only five such cases, including this one, have been reported to date. This article presents a literature review of these cases and a summary of the diagnosis and treatment experience.

Objective: Large congenital bladder diverticula (LCBD), congenital bladder diverticula (CBD) larger than 2 cm diameter, is a rare anomaly. The aim of this study was to report long-term surgical and clinical outcomes of children with LCBD., Methods: Medical charts of all children who were diagnosed with LCBD at our institution between April 2005 and December 2017, with at least 2 year follow-up were retrospectively reviewed. Patients' demographics, symptoms, operative technique, diverticulum size and localization, surgical outcomes and complications were recorded., Results: Fourteen patients with 18 LCBD, all male and age between 7 and 240 months (mean age: 53.5 months) were included in the study. Urinary tract infection was the main complaint in 10. Vesicoureteral reflux was detected in eight patients. Diverticula were 2-5.5 cm (mean 3.3 cm) in size. All diverticulectomies were performed transvesically and ureteroneocystostomy was added in 12 patients, 5 of whom were bilateral. No postoperative infection or recurrent reflux were observed. The median follow-up period was 4.5 years (2-12 years)., Conclusion: Treatment of LCBD is mostly surgical and transvesical approach for diverticulectomy was found to be a safe and effective surgical procedure in long term follow-up.

Aims: Since October 2018, urinary bladder diverticulum resections at our Department of Urology have been carried out with robot assistance and with minimal invasivion, Paediatrical urological and robot-assisted minimally invasive urological surgery for the Bamberg Social Foundation were performed with the DaVinci robotic system TM . The aim of the present study was to record the surgical results of our patients and to compare these if necessary with available data on optimal diagnostic and therapy., Methods: In this retrospective analysis, we included all patients who received RAHDR between October 2018 and March 2020. The primary endpoints were postoperative blood loss (postoperative haemoglobin decrease), the operation time (min), complications according to the Clavien-Dindo classification, length of hospital stay (days), postoperative residual urine, postoperative urine extravasation at the anastomosis of the bladder, postoperative quality of life and postoperative satisfaction with micturition., Results: We reviewed a total of 11 patients, all of whom were male. Mean age was 64.8 years (52-82). Average BMI was 26.5 (19-37). 3 patients were ranked with ASA score III, 5 with II and 3 with I. The average residual urine value preoperatively was 183 ml (90-240). A cystogram to rule out extravasation was performed on day 6 postoperatively. The mean duration of surgery was 212 min (148-294) and the mean duration of hospitalisation was 7.6 days (6-10). The mean residual urinary value after surgery was 25 ml (10-60). The mean postoperative maximum of flow was measured at 27.7 ml/s (11-55). No contrast agent extravasation in the cystogram was detected in any of the patients. The complications according to Clavien were not measurable. The mean postoperative haemoglobin decrease was 1.61 g/dl (0-3. 2)., Conclusions: In most cases, the removal of one or more bladder diverticula is possible using the minimally invasive robotic technique. Various surgeries such as YV-bladder neck plastic, prostate adenoma enucleation, bladder stone restoration, and inguinal herniotomy can be carried out simultaneously. A robot-assisted urinary bladder diverticulum resection is an effective and gentle procedure. However, it must be considered that it brings financial disadvantages due to the lack of adequate representation within the German DRG-system (Diagnosis Related Groups)., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Primary extra-hepatic portal vein obstruction (EHPVO) is a disease that develops ectopic varices due to portal hypertension and obstruction of the portal vein. Since bleeding from ectopic varices is life-threatening, the management of ectopic varices is important for patients with primary EHPVO. Here, we report a case of duodenal variceal bleeding in a patient with primary EHPVO. A 39-year-old man was diagnosed with F2-shaped duodenal varices (DV) due to primary EHPVO and was first treated with endoscopic variceal ligation for temporary hemostasis. We then performed angiography to understand the detailed hemodynamics and subsequently conducted endoscopic injection sclerotherapy (EIS) with a sclerosing agent containing N-butyl-2-cyanoacrylate for further hemostasis. After the treatment, dynamic computed tomography and endoscopic ultrasound revealed that the blood flow to the causative DV disappeared, although the DV itself remained. The patient was discharged without any re-bleeding or adverse events. Since treatment for DV due to primary EHPVO differs depending on hemodynamics (hepatofugal or hepatopetal blood flow), evaluating detailed hemodynamics for optimal treatment selection is crucial. Although EIS for this patient was not a radical treatment, it was effective in managing acute bleeding from the DV. This case will serve as a reference for successful treatment in future cases., (© 2022. Japanese Society of Gastroenterology.)

Introduction: Bladder exstrophy-epispadias complex (BEEC) comprises a spectrum of anterior midline congenital malformations, involving the lower urinary tract. BEEC is usually sporadic, but families with more than one affected member have been reported, and a twin concordance study supported a genetic contribution to pathogenesis. Moreover, diverse chromosomal aberrations have been reported in a small subset of individuals with BEEC. The commonest are 22q11.2 microduplications, identified in approximately 3% of BEEC index cases., Objectives: We aimed to refine the chromosome 22q11.2 locus, and to determine whether the encompassed genes are expressed in normal developing and mature human urinary bladders., Results: Using DNA from an individual with CBE, the 22q11.2 duplicated locus was refined by identification of a maternally inherited 314 kb duplication (chr22:21,147,293-21,461,017), as depicted in this image. Moreover, the eight protein coding genes within the locus were found to be expressed during normal developing and mature bladders. To determine whether duplications in any of these individual genes were associated with CBE, we undertook copy number analyses in 115 individuals with CBE without duplications of the whole locus. No duplications of individual genes were found., Discussion: The current study has refined the 22q11.2 locus associated with BEEC and has shown that the eight protein coding genes are expressed in human bladders both during antenatal development and postnatally. Nevertheless, the precise biological explanation as to why duplication of the phenocritical region of 22q11 confers increased susceptibility to BEEC remains to be determined. The fact that individuals with CBE without duplications of the whole locus also lacked duplication of any of the individual genes suggests that in individuals with BEEC and duplication of the 22q11.2 locus altered dosage of more than one gene may be important in BEEC etiology., Conclusions: The study has refined the 22q11.2 locus associated with BEEC and has shown that the eight protein coding genes within this locus are expressed in human bladders., (Copyright © 2022 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Background and Aims: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease., Methods: Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored., Results: One hundred three patients (52% girls), from 14 publications, were included. Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) score was 29.2 (Interquartile range 26.3-29.4). Most patients underwent abdominal surgery (66%), about half required intermittent bladder catheterization (48.5%), and more than half were parenteral nutrition (PN)-dependent (53%). One-quarter of the patients died (25.7%), and 6 required transplant (5.8%). Girls had a higher rate of microcolon (P  = 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early disease onset (<2 years of age) was associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) features. There was no statistical association between disease characteristics and CADD scores., Conclusions: Damaging ACTG2 variants are rare, often associated with MMIHS phenotype, and overall have a wide phenotypic variation. Symptoms usually present in the perinatal period but can also appear at a later age. The course of the disease is marked by frequent need for surgical interventions, PN support, and mortality. Poor outcomes are more common among girls with ACTG2 variants., Competing Interests: The authors report no conflicts of interest., (Copyright © 2022 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)