Publications by authors named "Ketzer J"

Objective:  This study aimed to examine the experiences of children with colorectal conditions who spent time in the neonatal intensive care unit (NICU) and their caregivers.

Study Design:  In March 2024, a 36-question survey was sent to the Colorectal Support Network Facebook community, to gather information from caregivers of children who have a congenital colorectal diagnosis and spent time in the NICU.

Results:  Fifty-two families completed the survey.

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Article Synopsis
  • Chronic constipation and fecal incontinence significantly affect patients with conditions like anorectal malformations and spina bifida, necessitating effective bowel management regimens often involving costly over-the-counter laxatives or enemas.
  • A study analyzed the costs of these bowel management regimens from 430 patients, revealing substantial price variations, with annual costs ranging from $15.70 to over $4,000 for laxatives and enemas, while diapers could cost up to $4,343.50.
  • The research highlights the need for better family counseling on these costs and advocates for improved insurance coverage of necessary medications to support ongoing treatment adherence for affected patients.
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  • Epithelioid hemangioendothelioma (EHE) is a rare type of cancer with unique features, but its natural history and best treatment practices are not well understood.
  • The EURACAN project has created a registry to gather prospective data on newly diagnosed EHE patients to enhance understanding of the disease.
  • The study will involve collecting comprehensive patient data from specialized hospitals to identify prognostic factors, treatment efficacy, and to monitor the disease's progression and outcomes over time.
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  • The study aimed to identify sociodemographic factors that affect bowel regimen adherence in youth and young adults with Spina Bifida after joining a bowel management program.
  • Participants averaged around 8 years old, with a majority being male, white, and dealing with myelomeningocele; 15.5% of them did not adhere to their bowel regimens.
  • Findings revealed that higher neighborhood disadvantage scores significantly decreased the likelihood of adherence, indicating that socioeconomic factors play a crucial role in health outcomes for these individuals.
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Introduction: Women born with anorectal malformation (ARM) or Hirschsprung disease (HD) may have impaired urologic function resulting in sequelae in adulthood. This study assessed and compared self-reported urinary outcomes in adult females born with ARM or HD to a reference population.

Methods: This was an IRB approved, cross-sectional study of female-born patients with ARM or HD, who completed surveys between November 2021 and August 2022.

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Purpose: To present the functional results after a transanal proximal rectosigmoidectomy in patients with severe idiopathic constipation in which medical treatment has failed.

Methods: Patients with severe idiopathic constipation who underwent transanal proximal rectosigmoidectomy (TPRS) at Children's Hospital Colorado between June 2019 and March 2024 were included in the study. We compared multiple pre- and post-operative outcome measures and the patient's bowel regimen before and after resection.

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Background: Postoperative anal dilations (PAD) are the standard of care for patients after a posterior sagittal anorectoplasty (PSARP) for anorectal malformation (ARM) or a transanal pull-through (TP) procedure for Hirschsprung disease (HD). This study assessed the psychosocial impact of PAD among caregivers of children with ARM or HD, which may inform postoperative care strategies.

Methods: Caregivers of patients with ARM and HD who underwent PSARP or TP within five years participated in the online survey.

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Background: There is growing evidence supporting multidisciplinary molecular tumor boards (MTB) in solid tumors whereas hematologic malignancies remain underrepresented in this regard.

Objective: The present study aimed to assess the clinical relevance of MTBs in primary refractory diffuse large B-cell lymphomas/high-grade B-cell lymphomas with MYC and BCL2 rearrangements (prDLBCL/HGBL-MYC/BCL2) (n = 13) and HGBL, not otherwise specified (NOS), with MYC and BCL6 rearrangements (prHGBL, NOS-MYC/BCL6) (n = 6) based on our previously published whole-exome sequencing (WES) cohort.

Patients And Methods: For genomic analysis, the institutional MTB WES pipeline (University Cancer Center Schleswig-Holstein: UCCSH), certified for routine clinical diagnostics, was employed and supplemented by a comprehensive immunohistochemical work-up.

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Introduction: During "bowel management week," abdominal radiographs are used to monitor the amount and location of stool. A radiologist familiar with the treatment plan can provide an improved interpretation. The goal of this paper is to standardize the radiological reports during a bowel management week.

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Purpose: To assess the quality of life and disease-specific functioning of adults with anorectal malformations (ARM) or Hirschsprung disease (HD) compared to healthy reference scores.

Methods: Patients with the diagnosis of ARM or HD from the Adult Colorectal Research Registry completed the Short Form 36 Health Survey (SF-36), the Gastrointestinal Quality of Life Index (GIQoLI), and the Bowel Function Score (BFS) between October 2019 and August 2022. One-sample Wilcoxon test compared the results to reported healthy references with a significance level of < 0.

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Purpose: This study aimed to assess our bowel management program (BMP) and identify predictive factors for bowel control in patients with Spina Bifida (SB) and Spinal Cord Injuries (SCI). Additionally, in patients with SB, we examined the impact of fetal repair (FRG) on bowel control.

Methods: We included all patients with SB and SCI seen in the Multidisciplinary Spinal Defects Clinic at Children's Hospital Colorado from 2020 to 2023.

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Purpose: This study aimed to analyze our radiologically supervised bowel management program (RS-BMP) outcomes in patients with chronic idiopathic constipation (CIC).

Methods: A retrospective study was conducted. We included all patients with CIC who participated in our RS-BMP at Children´s Hospital Colorado from July 2016 to October 2022.

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Purpose: To assess fertility concerns and to describe pregnancy outcomes in patients with anorectal malformations (ARM).

Methods: This is an IRB approved, cross-sectional study of patients in the Adult Colorectal Research Registry who completed reproductive health surveys between November 2021 and August 2022. Patients assigned female at birth with age 18 or older and ARM were included.

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Purpose: Multiple endocrine neoplasia Type 2A (MEN2A) can occur with Hirschsprung disease (HD) due to mutation in the RET proto-oncogene, with the majority developing medullary thyroid carcinoma (MTC). Given the comorbidity, many parents have contacted us to share concerns and unfortunate experiences about the prevalence rates of MEN2A/MTC in patients with HD. The aim is to determine the prevalence rate of patients with HD and MEN2A or medullary thyroid carcinoma, respectively.

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Resection margin adequacy plays a critical role in the local control of sarcomas. Fluorescence-guided surgery has increased complete resection rates and local recurrence-free survival in several oncological disciplines. The purpose of this study was to determine whether sarcomas exhibit sufficient tumor fluorescence (photodynamic diagnosis (PDD)) after administration of 5-aminolevulinic acid (5-ALA) and whether photodynamic therapy (PDT) has an impact on tumor vitality in vivo.

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Circulating tumor DNA (ctDNA) from circulating free DNA (cfDNA) in GIST is of interest for the detection of heterogeneous resistance mutations and treatment monitoring. However, methodologies for use in a local setting are not standardized and are error-prone and difficult to interpret. We established a workflow to evaluate routine tumor tissue NGS (Illumina-based next generation sequencing) panels and pipelines for ctDNA sequencing in an academic setting.

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Purpose: Long-term urinary outcomes for patients born with Hirschsprung disease (HD) and anorectal malformations (ARM) may impact their health and wellbeing into adulthood. This study describes self-reported long-term urinary outcomes in males with HD and ARM.

Methods: This was a prospective study of male patients in the Adult Colorectal Research Registry who completed surveys on urinary function between October 2019 and March 2022.

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Purpose: The long-term impact of anorectal malformations (ARM) and Hirschsprung disease (HD) on sexual function is well recognized but understudied. This study evaluated self-reported sexual and fertility outcomes in adult males with ARM and HD.

Methods: This was an IRB approved, prospective study of males in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022.

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Purpose: Limited research exists about the knowledge that adult patients have about their congenital colorectal diagnosis.

Methods: This was an IRB approved, prospective study of patients in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Surveys were administered through REDCap after patients consented to being contacted for research purposes.

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Purpose: This study aimed to obtain information about the psychosocial functioning of adults with various congenital colorectal conditions (e.g., anorectal malformation, Hirschsprung disease).

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Purpose: Most patients with idiopathic constipation achieve daily voluntary bowel movements with stimulant laxatives after a "Structured Bowel Management Program" (BMP). A small percentage require rectal enemas. One week in a BMP to find the right enema recipe results in a success rate great than 95%.

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Purpose: Congenital or acquired anatomic differences of the genital tract in patients with anorectal malformations (ARM) may make pelvic exams more challenging. The purpose of this study was to describe office-based pelvic exams and cervical cancer screening among female patients with a history of ARM.

Methods: This was an IRB approved, cross-sectional study of female patients with ARM who completed our Reproductive Health Surveys from November 2021 to March 2022.

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Purpose: The aim of this study was to determine and analyze the stricture rate in patients who underwent a PSARP or PSARVUP and followed a postoperative protocol of anal dilation (Fig. 1).

Methods: A retrospective review of patients with anorectal malformation (ARM) who underwent a primary PSARP or PSARVUP from February 2016 to October 2021 was performed.

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Purpose: Pediatric colorectal studies have shown enhanced recovery after surgery (ERAS) protocols can safely improve outcomes. This study sought to determine the impact of an ERAS pathway on the outcomes of children with colorectal conditions who underwent colostomy closure or Malone procedure.

Methods: A single-institution, retrospective cohort study of children who underwent colostomy closure or Malone procedure between 2016 and 2020 was performed.

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Introduction: The aim of this study was to determine the feasibility of fetal MRI in identifying the normal anal dimple (AD) and compare it with prenatal ultrasound (US).

Methods: Retrospective review of 130 patients with both fetal MRI and US. The gestational age (GA) was stratified into four groups: (1) 16 to 21 weeks-6 days; (2) 22 to 27 weeks-6 days; (3) 28 to 33 weeks-6 days; and (4) 34 weeks and beyond.

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