Faculty Bibliography

Obstructed hemivagina and ipsilateral renal anomaly is a Mullerian anomaly with variable presentations. A patient with this syndrome had a superinfected fluid collection in an obstructed hemivagina after mifepristone and misoprostol administration for an embryonic demise, identifying a potential complication in this population.

Osteotomies around the knee are an effective procedure that shifts the weight-bearing axis from the pathologic side to the uninvolved side to alleviate pain, unload cartilage transplantations, slow down the progression of arthritis, and protect ligament reconstructions. The advancement in plates from nonlocking to locking have increased the stability of constructs to allow for early mobilization and maintained corrections. Further developments with patient-specific instrumentation have made these techniques more reproducible and accurate. Bone grafting and biologics remain a topic of debate but likely a helpful adjuvant in the context of larger corrections or joint preservation surgeries.

Tibial tuberosity osteotomy (TTO) is a well-described treatment option for a broad range of patellofemoral joint disorders, including patellofemoral instability, focal chondral lesions of the patellofemoral joint, and patellofemoral arthritis. The purpose of this article is to review the indications and highlight the surgical technique for the more commonly performed TTO procedures and discuss outcomes, as well as surgical pearls for this technique.

BACKGROUND:There are risks associated with excessive intravenous fluid (IVF) administration in critically ill children. Previous efforts have described opportunities to reduce positive cumulative fluid balance (CFB) in this population but have not been widely implemented. In the wake of Hurricane Helene, a national IVF shortage led to the implementation of IVF conservation guidelines. We sought to determine if this was associated with a reduction in IVF use and CFB. METHODS:The present study is a four-site cohort study of critically ill children utilizing a federated data collection framework to extract patient age, sex, weight, and daily fluid intake/output for days 1-4 of all admissions 28 days prior to and 28 days after the implementation of IVF conservation guidelines. Guidelines were individualized per institution. Total fluid intake, total IVF intake, % intake from IVF, and % CFB were compared between pre- and post-IVF conservation groups. RESULTS:All sites had similar conservation recommendations. There were 633 patients admitted pre- and 619 patients admitted post-IVF conservation guideline implementation, with similar age and weight distributions. There was no significant difference in IVF use pre- and post-IVF conservation; 29-35% of patients had > 5% CFB on day 1 pre-IVF conservation while 27-39% did post-conservation, with increasing numbers on day 2. CONCLUSIONS:Even in the setting of a national IVF shortage, simple recommendations without structured change were insufficient to change IVF administration practices. This indicates additional practices will be needed to reduce IVF intake and % CFB in this vulnerable population.

BACKGROUND:Persistent chemotherapy-induced alopecia (pCIA) is a distressing side effect of antineoplastic agents, imposing significant psychological burdens on cancer survivors. Despite its impact, there are no standardized guidelines for diagnosis, prevention or management. OBJECTIVES/OBJECTIVE:To establish consensus-based definitions, diagnostic criteria, grading systems and management recommendations for pCIA. METHODS:A two-round Delphi method was conducted with 15 international experts in supportive oncodermatology and hair diseases from both Europe and the Americas. Statements were rated on a 5-point Likert scale, with a strong consensus defined as ≥75% agreement. Statements that did not achieve strong consensus in the first round were revised based on expert feedback and re-evaluated in a second-round survey. RESULTS:Strong consensus was reached on 47 statements (75.8%). pCIA was defined as non-scarring alopecia persisting beyond 6 months post-chemotherapy. Causes were attributed to the destruction of hair follicle stem cells, with taxanes, thiotepa and anthracyclines identified as key contributors. Consensus emphasized the importance of prevention of pCIA through scalp cooling devices, and the early intervention with topical or low-dose oral minoxidil was also recommended. Interestingly, the experts did not recommend the use of bicalutamide, oral finasteride and dutasteride (including in mesotherapy) for breast cancer patients with pCIA, citing potential safety concerns. CONCLUSIONS:This Delphi study established unified guidelines for pCIA, providing clinicians with a clear framework for diagnosis and treatment. Highlighting prevention through scalp cooling and timely interventions may improve outcomes for cancer survivors. Further research is necessary to assess new treatments and the long-term impact of chemotherapy on hair follicles.

RECQL4 plays an important role in maintaining the integrity of the genome and regulating DNA replication. However, the role of RECQL4 in CNS tumors remains unknown. Sequencing data were reviewed and immunohistochemistry was performed on a variety of glial and nerve sheath tumors. Functional studies were performed in glioma (U251) and malignant peripheral nerve sheath tumors (MPNSTs) (NF90-8, ST88-14) cell lines following RECQL4 knockdown and treatment with ATR-inhibitors. Across 1580 CNS tumors, RECQL4 gene variants were identified in 71 cases (4.5%), with 21 (29.6%) of probable pathogenic significance. RECQL4 expression differed significantly across glioma subgroups (P = 0.012). Low-grade gliomas (diffuse: median H-score 57.5; circumscribed: median 130) showed lower expression than high-grade gliomas (median 145, P < 0.05). Neurofibromas displayed higher RECQL4 expression (median 160) compared with MPNSTs (median 97.5, P < 0.001). Among MPNSTs, NF1-associated cases (n = 24, median 95) expressed significantly less RECQL4 than sporadic cases (n = 8, median 162.5, P < 0.001). RECQL4 knockdown in glioma and MPNST cell lines resulted in increased apoptosis and susceptibility to ATR-inhibitors. Our findings show that RECQL4 expression has divergent patterns across tumor types and that targeting RECQL4 may dampen tumor survival and enhance susceptibility to ATR inhibitor therapy in CNS tumors.

INTRODUCTION/BACKGROUND:Process evaluation provides insight into how interventions are delivered across varying contexts and why interventions work in some contexts and not in others. This manuscript outlines the protocol for a process evaluation embedded in a hybrid type 1 effectiveness-implementation randomised clinical trial of incremental-start haemodialysis (HD) versus conventional HD delivered to patients starting chronic dialysis (the TwoPlus Study). The trial will simultaneously assess the effectiveness of incremental-start HD in real-world settings and the implementation strategies needed to successfully integrate this intervention into routine practice. This manuscript describes the rationale and methods used to capture how incremental-start HD is implemented across settings and the factors influencing its implementation success or failure within this trial. METHODS AND ANALYSIS/METHODS:We will use the Consolidated Framework for Implementation Research (CFIR) and the Reach, Effectiveness, Adoption, Implementation and Maintenance (RE-AIM) frameworks to inform process evaluation. Mixed methods include surveys conducted with treating providers (physicians) and dialysis personnel (nurses and dialysis administrators); semi-structured interviews with patient participants, caregivers of patient participants, treating providers (physicians and advanced practice practitioners), dialysis personnel (nurses, dieticians and social workers); and focus group meetings with study investigators and stakeholder partners. Data will be collected on the following implementation determinants: (a) organisational readiness to change, intervention acceptability and appropriateness; (b) inner setting characteristics underlying barriers and facilitators to the adoption of HD intervention at the enrollment centres; (c) external factors that mediate implementation; (d) adoption; (e) reach; (f) fidelity, to assess adherence to serial timed urine collection and HD treatment schedule; and (g) sustainability, to assess barriers and facilitators to maintaining intervention. Qualitative and quantitative data will be analysed iteratively and triangulated following a convergent parallel and pragmatic approach. Mixed methods analysis will use qualitative data to lend insight to quantitative findings. Process evaluation is important to understand factors influencing trial outcomes and identify potential contextual barriers and facilitators for the potential implementation of incremental-start HD into usual workflows in varied outpatient dialysis clinics and clinical practices. The process evaluation will help interpret and contextualise the trial clinical outcomes' findings. ETHICS AND DISSEMINATION/BACKGROUND:The study protocol was approved by the Wake Forest University School of Medicine Institutional Review Board (IRB). Findings from this study will be disseminated through peer-reviewed journals and scientific conferences. TRIAL REGISTRATION NUMBER/BACKGROUND:NCT05828823.

Families of infants hospitalized in the neonatal intensive care unit (NICU) are at an increased risk for depression, anxiety, and trauma symptoms that often persist well beyond transition from the NICU. While NICU professionals provide vital medical care for high-risk infants, they also offer interdisciplinary support for families, including collaboration with psychosocial and psychiatric services in select settings. Despite psychosocial support systems often being present during NICU hospitalization, significant gaps remain in post-NICU mental health support for parents. Comprehensive discharge preparation and outpatient follow-up planning for infants, as well as their families, are essential to optimize both long-term outcomes and the well-being of the entire family unit. In this paper, we review current evidence regarding mental health risks for families during transitions of care and highlight practice recommendations and advocacy opportunities for enhanced family-centered, interdisciplinary follow-up care after transition from the NICU.