Faculty Bibliography

INTRODUCTION/BACKGROUND:Online resources have become a major source of medical information for the general public. To date, there has not been an assessment of patient-oriented online resources for face and upper extremity transplantation candidates and patients. The goal of this study is to perform a comprehensive assessment of these resources. METHODS:Our analysis relied on 2 dimensions: comprehensiveness and readability. Comprehensiveness was evaluated using 14 predetermined variables. Readability was evaluated using 8 different readability scales through the Readability Studio Professional Edition Software (Oleander Software, Ltd, Vandalia, Ohio). Data were also collected from solid organ transplantation (SOT), specifically kidney and liver, programs for comparison. RESULTS:Face and upper extremity transplantation programs were significantly more likely to list exclusion criteria (73.9% vs 41.2%; P = 0.02), the need for life-long immunosuppression (87.0% vs 58.8%; P = 0.02), and benefits of transplantation (91.3% vs 61.8%; P = 0.01) compared with SOT programs. The average readability level of online resources by all face and upper extremity transplantation programs exceeded the sixth grade reading level recommended by the National Institutes of Health and the American Medical Association. The average reading grade level of online resources by these programs was also significantly higher than those of SOT with both exceeding the recommended reading level (13.95 ± 1.55 vs 12.60 ± 1.65; P = 0.003). CONCLUSIONS:Future efforts in face and upper extremity transplantation should be directed toward developing standardized, comprehensive, and intelligible resources with high-quality content and simple language.

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous genetic evaluations were unrevealing. Damaging de novo or transmitted loss of function (LOF) mutations were found in 8 genes that are highly intolerant to LOF mutation (P = 4.0 × 10^-8); additionally, a rare damaging mutation in SOX11, which has a lower level of intolerance, was identified. Four probands had rare damaging mutations (2 de novo) in TFAP2B, a transcription factor that orchestrates neural crest cell migration and differentiation; this mutation burden is highly significant (P = 8.2 × 10^-12). Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways; other genes in these pathways have previously been implicated in syndromic CS. Similarly, damaging de novo mutations were identified in genes encoding the chromatin modifier KAT6A, and CTNNA1, encoding catenin α-1. These findings establish TFAP2B as a CS gene, have implications for assessing risk to subsequent children in these families, and provide evidence implicating other genes in syndromic CS. This high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencing of known disease loci is unrevealing.

INTRODUCTION/BACKGROUND:Ongoing combat operations in Iraq, Afghanistan, and other theaters have led to an increase in high energy craniomaxillofacial (CMF) wounds. These challenging injuries are typically associated with complex tissue deficiencies, evolving areas of necrosis, and bony comminution with bone and ballistic fragment sequestrum. Restoring form and function in these combat-sustained CMF injuries is challenging, and frequently requires local and distant tissue transfers. War injuries are different than the isolated trauma seen in the civilian sector. Donor sites are limited on patients with blast injuries and they may have preferences or functional reasons for the decisions to choose flaps from the available donor sites. METHODS:A case series of patients who sustained severe combat-related CMF injury and were treated at Walter Reed National Military Medical Center (WRNMMC) is presented. Our study was exempt from Institutional Review Board review, and appropriate written consent was obtained from all patients included in the study for the use of representative clinical images. RESULTS:Four patients treated by the CMF team at Walter Reed National Military Medical Center are presented. In this study, we highlight their surgical management by the CMF team at WRNMMC, detail their postoperative course, and illustrate the outcomes achieved using representative patient clinical images. We also supplement this case series demonstrating military approaches to complex CMF injuries with CMF reconstructive algorithms utilized by the senior author (EDR) in the management of civilian complex avulsive injuries of the upper, mid, and lower face are thoroughly reviewed. CONCLUSION/CONCLUSIONS:While the epidemiology and characteristics of military CMF injuries have been well described, their management remains poorly defined and creates an opportunity for reconstructive principles proven in the civilian sector to be applied in the care of severely wounded service members. The War on Terror marks the first time that microsurgery has been used extensively to reconstruct combat sustained wounds of the CMF region. Our manuscript reviews various options to reconstruct these devastating CMF injuries and emphasizes the need for steady communication between the civilian and military surgical communities to establish the best care for these complex patients.

Facial transplantation is emerging as a therapeutic option for self-inflicted gunshot wounds. The self-inflicted nature of this injury raises questions about the appropriate role of self-harm in determining patient eligibility. Potential candidates for facial transplantation undergo extensive psychosocial screening. The presence of a self-inflicted gunshot wound warrants special attention to ensure that a patient is prepared to undergo a demanding procedure that poses significant risk, as well as stringent lifelong management. Herein, we explore the ethics of considering mechanism of injury in the patient selection process, referring to the precedent set forth in solid organ transplantation. We also consider the available evidence regarding outcomes of individuals transplanted for self-inflicted mechanisms of injury in both solid organ and facial transplantation. We conclude that while the presence of a self-inflicted gunshot wound is significant in the overall evaluation of the candidate, it does not on its own warrant exclusion from consideration for a facial transplantation.

Since 2005, facial transplantation has emerged as a viable reconstructive option for the most severe defects not amenable to conventional reconstructive techniques, with promising aesthetic and functional outcomes to date. Key facial subunits and midface structures such as the eyelids, lips, and nose are now able to be successfully replaced rather than reconstructed, enabling adequate functional outcomes in even the most extensive defects. However, even in cases of severe facial disfigurement, the decision to proceed with transplantation versus autologous reconstruction remains a source of debate, with no current consensus regarding precise indications and inclusion/exclusion criteria. This report details the case of a candidate referred for face transplantation who ultimately underwent autologous facial reconstruction. Through this representative case, our objective is to clarify the criteria that make a patient a suitable face transplant candidate, as well as to demonstrate the outcomes achievable with a conventional autologous reconstruction, using a methodically planned, multistaged approach.

BACKGROUND:Despite early skepticism, the field of vascularized composite allotransplantation (VCA) has demonstrated feasibility. The ethics of VCA have moved past doubts about the morality of attempting such transplant to how to conduct them ethically. METHODS:Leaders of each program performing and/or evaluating VCA in the United States were invited to participate in a working group to assess the state and future of VCA ethics and policy. Four meetings were held over the course of 1 year to describe key challenges and potential solutions. RESULTS:Working group participants concluded that VCA holds great promise as treatment for patients with particular injuries or deficits, but the field faces unique challenges to adoption as standard of care, which can only be overcome by data sharing and standardization of evaluation and outcome metrics. CONCLUSIONS:Adequate attention must be given to concerns including managing the uniquely intense physician-patient relationship, ethical patient selection, ensuring patients have adequate representation, informing and earning the trust of the public for donation, standardizing metrics for success, and fostering an environment of data sharing. These steps are critical to transitioning VCA from research to standard of care, and to its insurance coverage inclusion.

Facial transplant (FT) is a viable option for patients with severe craniomaxillofacial deformities. Transplant imaging requires coordination between radiologists and surgeons and an understanding of the merits and limitations of imaging modalities. Digital subtraction angiography and CT angiography are critical to mapping vascular anatomy, while volume-rendered CT allows evaluation of osseous defects and landmarks used for surgical cutting guides. This article highlights the components of successful FT imaging at two institutions and in two index cases. A deliberate stepwise approach to performance and interpretation of preoperative FT imaging, which consists of the modalities and protocols described here, is essential to seamless integration of the multidisciplinary FT team. ^©RSNA, 2019 See discussion on this article by Lincoln .

PURPOSE/OBJECTIVE:Periorbital injuries are common in face transplantation (FT) candidates. It is therefore essential that the ophthalmologist play a central role in the multidisciplinary treatment of these patients. In this study, the authors perform a comprehensive review of all procedures involving periorbital components, provide an update for the ophthalmology community regarding the current state of the field, and present 2 cases. METHODS:A comprehensive review of the literature for all FT procedures including periorbital components was performed. The authors also present 2 patients who received FT including periorbital components for extensive facial disfigurement. One patient sustained high-energy avulsive ballistic injury and underwent a total face, double jaw, and tongue transplant in 2012. The second patient received a total face, eyelids, ears, and skeletal subunits transplant for extensive facial burns in 2015. RESULTS:Literature review demonstrated that 22 (54%) of the 41 patients undergoing FT received allografts containing periorbital components. Only 14 cases (64%) reported on the presence of ocular and periocular complications. The most common complications consisted of lower eyelid ectropion and lagophthalmos, and nearly all required revisional procedures. Both patients presented with significant periorbital scarring and demonstrated good visual acuity and aesthetic outcomes at postoperative follow up between 6 and 28 months. CONCLUSIONS:Face transplantation can address extensive facial and periorbital disfigurement with satisfactory functional and aesthetic outcomes. The majority of FT performed to date have included periorbital components, and postoperative ocular and periocular complications are common. It is critical for ophthalmologists to play a central role in the care of these patients.