Neural network non-linear modeling to predict hypospadias genotype–phenotype correlation

Fernández, Nicolás; Chua, Michael; Congote, Juliana Villanueva; Varela, Daniela; Bägli, Darius; Shnorhavorian, Margarett

doi:10.1016/j.jpurol.2023.01.005

Cited by 6 publications

(1 citation statement)

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“…To date, 49 genes have been reported to be associated with hypospadias development. 1 Main categorizations of identified genes include those involved in genital tubercle and subsequent phallic development and urethragenesis, midline patterning, testis determination, androgen production and signaling, and susceptibility loci to environmental factors. Additionally, epigenetic mechanisms, long noncoding RNAs, miRNAs, unfolded protein response (autophagy-apoptosis), and metabolome likely are important in the interplay with genetic susceptibility and require future elucidation.…”

Section: Prevalence Trends and Contributing Factorsmentioning

confidence: 99%

Advancements in Hypospadias Management: Trends, Techniques, Training, and Patient-Centric Outcomes

Bhatia,

Fernandez,

Long

et al. 2024

Urology Research & Practice

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Hypospadias has drawn increasing attention due to its prevalence, complex etiology, and significant impacts on psychological and sexual quality of life. This comprehensive review delves into the facets of hypospadias management, exploring pivotal themes that shape present understanding and practice. We demonstrate potential explanatory factors for its incidence through an analysis of geographic, genetic, and environmental influences. We then contextualize care by exploring historical and evolving surgical techniques, and highlight that advances in surgical approaches employ a spectrum of repair strategies. Innovation in surgical training, with a focus on simulation-based methodologies, offers a bridge between didactic learning and real-world application, which is particularly relevant due to the demonstrated effect of personal experience with hypospadias repair outcomes. Considering the importance of mentorship, case exposure, and hands-on practice, a holistic understanding of expertise cultivation at each training stage is essential. Lastly, patient-centric outcomes research must take center stage, particularly as the impact of our interventions on children with hypospadias will be judged by them as adults. Shifting from solely surgeon-reported outcomes to patient-reported outcomes is emphasized in the review, allowing for a more comprehensive assessment of the influence of surgical interventions across the lifespan. Integrating patients’ perspectives refines surgical decision-making to align with expectations, ultimately enhancing overall satisfaction. Our multi-pronged exploration of advancements in hypospadias underscores the symbiotic relationship between evolving surgical techniques, training methodologies, personal experience, and patient-reported outcomes. As the field progresses, these insights will collectively contribute to optimizing hypospadias care, advancing both medical practice and patient well-being.

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Section: Prevalence Trends and Contributing Factorsmentioning

confidence: 99%