1.Next-Generation Sequencing Reveals Differentially Expressed Genes and Pathways in Urethral Cancer: Exploring A Poorly Understood Malignancy
Nickolas KINACHTCHOUK ; Samantha FREEMAN ; Rachael GOTLIEB ; Kailey HOOPER ; Travis SULLIVAN ; Eric BURKS ; Kimberly CHRIST ; Alex VANNI
Journal of Urologic Oncology 2025;23(3):289-298
Purpose:
Primary urethral cancer (PUC) is an uncommon malignancy with scarce diagnostic and treatment options, resulting in a limited understanding of its genetic foundation. This exploratory study compares gene expression profiles between urethral cancer and histologically normal urethral tissue from penile cancer patients (HN-PC).
Materials and Methods:
Twenty-three urethral specimens (13 malignant and 10 HN-PC) were collected between 2015 and 2023. RNA was isolated and analyzed via bulk RNA sequencing. Differentially expressed genes were identified, and multiple enrichment analysis techniques were performed including gene set enrichment analysis (GSEA), gene ontology analysis, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis.
Results:
A total of 1,212 significantly differentially expressed genes (false discovery rate [FDR] <0.01) were recognized with strong differentiation between the 2 cohorts. Twenty-two GSEA gene sets were identified as significantly enriched (FDR <0.01) with 392 significantly upregulated (FDR <0.01 and log2 fold change >1) genes within the leading edges. Gene ontology analysis highlighted chromosome organization, cell cycle regulation/processes, nuclear division, and tissue development. KEGG analysis revealed similar findings with the addition of enhanced viral protein interactions.
Conclusion
Next-generation sequencing revealed several genes and pathways commonly altered in PUC and also offered a set of new targets for future diagnostic and therapeutic trials.
2.Data Gap in Sacral Neuromodulation Documentation: Call to Improve Documentation Protocols
Christopher M. HORNUNG ; Ranveer VASDEV ; Kate A. HANSON ; Rachael GOTLIEB ; Cynthia S. FOK ; John FISCHER ; Nissrine A. NAKIB ; Dwight E. NELSON
International Neurourology Journal 2022;26(3):227-233
Purpose:
We quantified patient record documentation of sacral neuromodulation (SNM) threshold testing and programming parameters at our institution to identify opportunities to improve therapy outcomes and future SNM technologies.
Methods:
A retrospective review was conducted using 127 records from 40 SNM patients. Records were screened for SNM documentation including qualitative and quantitative data. The qualitative covered indirect references to threshold testing and the quantitative included efficacy descriptions and device programming used by the patient. Findings were categorized by visit type: percutaneous nerve evaluation (PNE), stage 1 (S1), permanent lead implantation, stage 2 (S2) permanent impulse generator implantation, device-related follow-up, or surgical removal.
Results:
Documentation of threshold testing was more complete during initial implant visits (PNE and S1), less complete for S2 visits, and infrequent for follow-up clinical visits. Surgical motor thresholds were most often referred to using only qualitative comments such as “good response” (88%, 100% for PNE, S1) and less commonly included quantitative values (68%, 84%), locations of response (84%, 83%) or specific contacts used for testing (0%). S2 motor thresholds were less well documented with qualitative, quantitative, and anatomical location outcomes at 70%, 48%, and 36% respectively. Surgical notes did not include specific stimulation parameters or contacts used for tests. Postoperative sensory tests were often only qualitative (80%, 67% for PNE, S1) with quantitative values documented much less frequently (39%, 9%) and typically lacked sensory locations or electrode-specific results. For follow-up visits, <10% included quantitative sensory test outcomes. Few records (<7%) included device program settings recommended for therapy delivery and none included therapy-use logs.
Conclusions
While evidence suggests contact and parameter-specific programming can improve SNM therapy outcomes, there is a major gap in the documentation of this data. More detailed testing and documentation could improve therapeutic options for parameter titration and provide design inputs for future technologies.

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