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Currently accepted primary repair of congenital anorectal malformations (ARMs) includes a posterior sagittal incision, which allows for optimal visualization and identification of important pelvic structures and anatomical features. Reconstructive surgery involves meticulous dissection and separation of pelvic structures, and careful reconstruction can result in good functional outcomes for many patients, who live without ongoing sequelae from their malformation. However, some patients may require reoperative procedures for anatomic or functional reasons. Males and females present with slightly different symptoms and should be approached differently. Males are most likely to require reoperations for anorectal or urethral pathologies, but the urinary system is often spared in females-they instead must contend with Mullerian duct anomalies, of which there are many varieties. Depending on the original malformation and severity of symptoms, redo surgery may be needed to optimize function and quality of life. Surgical management with reoperative surgery in ARMs ranges from straightforward to complex, depending on the issue. One must weigh the risks of reoperative surgery and potentially creating more scarring against the need for a better anatomical and functional outcome. Current management trends and practice patterns with regards to reoperative surgery in ARM patients are not widely studied or standardized but we provide an overview of the more common pathologies, preoperative evaluation and workup required to identify the issues, and options for reoperative repair in these patients., Competing Interests: Conflict of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/tgh-20-214). The series “Current Topics in Pediatric General Surgery” was commissioned by the editorial office without any funding or sponsorship. The authors have no other conflicts of interest to declare., (2021 Translational Gastroenterology and Hepatology. All rights reserved.)

Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Background: Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and incontinence has not been previously described in children with PD., Methods: Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additional questions regarding urinary tract infections (UTIs), giggle, and stress incontinence. Descriptive statistics were used to discriminate urinary symptoms between gender, age, and different types of PD., Results: Sixteen of 23 children (aged 4-14 years) seen in our clinic participated. Seven were girls; ten had classic infantile PD, two atypical infantile PD, and four childhood presentation late-onset PD (LOPD). When stratified by PD subtype, median BCSS was worst for the classic PD subtype followed by atypical PD and LOPD. Daytime urinary incontinence accompanied by constipation was noted in six. Eight reported urinary incontinence with laughing: giggle incontinence in six and stress incontinence in two. Four girls reported a history of UTI. Longitudinal follow-up in 11 patients showed stable BCSS in six, improvement in three, and worsening in two. Worsening corresponded with changes in bowel function and improvement with increase in ERT dose or treatment of constipation., Conclusions: LUTS and incontinence are common in children with PD with greater symptoms noted with infantile-type PD. Improved bowel function and increase in ERT dose may lead to improvements in BCSS.

Objective: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in late-onset Pompe disease (LOPD) Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed., Results: 35 patients with LOPD were included in the study (17 males and 18 females). The median age was 51.8 (range 18-72 years of age). Of these patients, 27/35 were receiving enzyme replacement therapy (ERT) with median duration of 54 months (range 5-88 months). In the male patients, 9/17 (53%) described their stream as dribbling, weak, or intermittent, and 9/17 (53%) complained of post-void dribbling. In addition 38% of the men were unable to stop their urination midstream. In the female patients, the most common complaint was urinary incontinence, reported in 14/18 (78%). In addition, 7/18 (39%) complained of post-void dribbling, and 47% were unable to stop their urination midstream. Bowel incontinence was reported in 45% of patients. There was a significant association between urinary symptoms and lower extremity function scores and duration of ERT (p = 0.005 and p = 0.04, respectively), Conclusions: This is the first study in a large cohort of LOPD patients that demonstrates LUTS and incontinence occur at a high rate. This study emphasizes the spectrum of LOPD is beyond isolated gross motor and pulmonary involvement and has a significant effect on the lower urinary tract.

Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging from oculomotor apraxia to severe convulsions. The heterozygosity of phenotypes makes it difficult to predict the disease course. We describe an 8-year-old male with neuronopathic type III Gaucher disease who developed bladder dysfunction and was unable to completely void. He also presented with hypertension and acute renal insufficiency, most likely secondary to urinary retention. A complete evaluation was done for causes of urinary retention and bladder dysfunction. A renal bladder ultrasound demonstrated marked hydroureteronephrosis. There was no clinical evidence of infection and cystoscopy revealed no anatomic obstruction. In addition, MRI showed no spinal abnormalities. His bladder dysfunction was managed operatively by creating a catheterizable stoma, using his appendix, to empty his bladder, and surgical findings were consistent with neurogenic bladder. He continues to be managed for his Gaucher disease and neurogenic bladder by genetics, nephrology and urology. This is the first clinical report of neurogenic bladder dysfunction in neuronopathic Gaucher disease.

Introduction: Systematic reviews and meta-analyses of well-designed and executed randomized controlled trials have the potential to provide the highest levels of evidence to support diagnostic and therapeutic interventions in urology., Materials and Methods: The role of systematic reviews in the urological literature is described. A three-step appraisal of the validity, magnitude and applicability of results will permit an evidence-based approach to incorporating findings of systematic reviews and meta-analyses into practice., Results: The validity of systematic reviews depends on a focused clinical question that generates specific inclusion and exclusion criteria for identifying studies through an exhaustive literature search. The primary studies must be of high methodological quality and assessments should be reproducible. Informed consumers of the urological literature should be aware of the consistency of results between trials in a review, as well as the magnitude and precision of the best estimate of the treatment effects. When making decisions about implementing the results, urologists should consider all patient-important outcomes, the overall quality of the evidence and the balance between benefits, potential harms and costs., Conclusion: This framework will lead to a more evidence-based application of systematic reviews within the urological literature. Ideally, utilization of an evidence-based approach to systematic reviews will improve the quality of urological patient care.

Outer membrane protein E (OMP E) is a 50-kDa protein of Moraxella catarrhalis which has several features that suggest that the protein may be an effective vaccine antigen. To assess the conservation of OMP E among strains of M. catarrhalis, 22 isolates were studied with eight monoclonal antibodies which recognize epitopes on different regions of the protein. Eighteen of 22 strains were reactive with all eight antibodies. The sequences of ompE from 16 strains of M. catarrhalis were determined, including the 4 strains which were nonreactive with selected monoclonal antibodies. Analysis of sequences indicate a high degree of conservation among strains, with sequence differences clustered in limited regions of the gene. To assess the stability of ompE during colonization of the human respiratory tract, the sequences of ompE of isolates collected from patients colonized with the same strain for 3 to 9 months were determined. The sequences remained unchanged. These results indicate that OMP E is highly conserved among strains of M. catarrhalis, and preliminary studies indicate that the gene which encodes OMP E remains stable during colonization of the human respiratory tract.

We compared responses to pneumococcal conjugate and polysaccharide vaccines in 48 otitis-free and 64 otitis-prone children. Pre- and postimmunization concentrations of antibodies to pneumococcal serotypes 6B, 14, 19F, and 23F were measured by enzyme-linked immunosorbent assay. Postimmunization mean concentrations of antibodies to all four serotypes were significantly higher for children receiving conjugate vaccine than for those receiving polysaccharide vaccine; the difference in responses was primarily due to a better response to conjugate vaccine in the otitis-prone group. Significantly higher postimmunization concentrations of antibodies to all four serotypes and to one of the four serotypes were found in otitis-prone children and otitis-free children who received conjugate vaccine, respectively. Pneumococcal conjugate vaccine has the potential to reduce the incidence of disease due to vaccine serotypes, even among children with recurrent otitis media.

Young (3 to 4 months) and old (21 to 22 months) rats were fed either a regular or high potassium (K) diet. After acute potassium chloride infusion, the fraction of infused K excreted (K efficiency) was similar in rats on a normal diet (57 +/- 3%, young, vs. 61 +/- 2%, old). With high K feeding there was a significant increase in the young, 69 +/- 4%, but not in the old rats, 62 +/- 2%. Na-K ATPase activity was markedly reduced in the renal medulla of old rats on a regular or high K diet. In addition, the response to acute K loading was compared in acutely nephrectomized rats. In the young rats on a regular diet plasma K increased from 3.72 +/- 0.09 to 5.28 +/- 0.16 mEq/liter while with K ingestion the increase was significantly less, 3.62 +/- 0.07 to 4.75 +/- 0.12 mEq/liter. In the old rats plasma K increased similarly on a regular or high K diet, 3.68 +/- 0.10 to 5.68 +/- 0.33 mEq/liter and 3.76 +/- 0.06 to 5.97 +/- 0.30 mEq/liter, respectively. Thus, old rats have impaired renal and extrarenal adaptation, but they have a normal response to an acute K challenge. A reduction in Na-K ATPase may account for the defect in renal adaptation in the aged rats.