Faculty Bibliography

Fanconi anemia (FA) is a clinically heterogenous and genetically diverse disease with 22 known complementation groups (FA-A to FA-W), resulting from the inability to repair DNA interstrand crosslinks. This rare disorder is characterized by congenital defects, bone marrow failure, and cancer predisposition. FANCA is the most commonly mutated gene in FA and a variety of mostly private mutations have been documented, including small and large indels, and point and splicing variants. Genotype-phenotype associations in FA are complex and a relationship between particular FANCA variants and the observed cellular phenotype or illness severity remains unclear. In this study, we describe two siblings with compound heterozygous FANCA variants (c.3788_3790delTCT and c.4199G>A) who both presented with esophageal squamous cell carcinoma at the age of 51. The proband came to attention when he developed pancytopenia after a single cycle of low-dose chemotherapy including platinum-based therapy. Other than a minor thumb abnormality, neither patient had prior findings to suggest FA, including normal blood counts and intact fertility. Patient fibroblasts from both siblings display increased chromosomal breakage and hypersensitivity to interstrand crosslinking agents as seen in typical FA. Based on our functional data demonstrating that the c.4199G>A/p.R1400H variant represents a hypomorphic FANCA allele, we conclude that the residual activity of the Fanconi anemia repair pathway accounts for lack of spontaneous bone marrow failure or infertility with the late presentation of malignancy as the initial disease manifestation. This and similar cases of adult-onset esophageal cancer stress the need for chromosome breakage testing in patients with early onset of aerodigestive tract squamous cell carcinomas before platinum-based therapy is initiated.

PURPOSE/OBJECTIVE:A hoverboard, or self-balancing scooter, is a battery-powered vehicle with 2 wheels connected by a longboard that requires handsfree operation. The purpose of the present study was to characterize the emergency department visits for hoverboard-related craniomaxillofacial trauma and determine predictors of injuries and hospital admission. MATERIALS AND METHODS/METHODS:and t tests. RESULTS:The final sample included 440 patients, of whom 51% were male and 74% were pediatric (age, ≤18 years). Pediatric and male patients were both less likely to wear helmets (P < .01). The injuries had most commonly occurred in the winter (38%) and in a home setting (77%). Facial fractures were more likely in adults (P = .03) and in the summer (P = .04). The overall admission rate was 4.3%. The admission rates were greater for those with facial fractures (P = .02) and intracranial injuries (P = .03) but lower for those with soft tissue injuries (P < .01). Street injuries resulted in a greater admission rate compared with home injuries (P = .01). CONCLUSIONS:Craniomaxillofacial injuries from hoverboard accidents have resulted in emergency department visits and hospital admissions since the vehicle's introduction to the consumer market in 2015. Most cases occurred in the winter, which might reflect increased sales and novice riders during the holiday season. Injuries to adults, in the summer or outdoors, appear to be more severe. Intracranial injuries were the most frequent diagnosis; thus, helmet wear is recommended.

Background/UNASSIGNED:A major challenge in face transplantation (FT) is the limited donor allograft pool. This study aimed to investigate the feasibility of cross-sex FT (CSFT) for donor pool expansion by: (1) comparing craniomaxillofacial metrics following CSFT versus same-sex FT (SSFT); and (2) evaluating the public and medical professionals' perception of CSFT. Methods/UNASSIGNED:Seven cadaveric FTs were performed, resulting in both CSFT and SSFT. Precision of bony and soft tissue inset was evaluated by comparing pre- versus post-operative cephalometric and anthropometric measurements. Fidelity of the FT compared to the virtual plan was assessed by imaging overlay techniques. Surveys were administered to medical professionals, medical students, and general population to evaluate opinions regarding CSFT. Results/UNASSIGNED:< 0.001). On non-blinded and blinded assessments, 62.9% and 79% of responses rated the CSFT superior or equal to SSFT, respectively. Conclusions/UNASSIGNED:Our study demonstrates similar anthropometric and cephalometric outcomes for CSFT and SSFT. Participants were more reticent to undergo CSFT, with increased willingness if supported by research. CSFT may represent a viable option for expansion of the donor pool in future patients prepared to undergo transplantation.

Oral cancer treatment involving the maxilla and/or mandible often results in esthetic and functional deficits that can diminish the patient's quality of life. As a result, expeditious reconstruction of the defect and dental rehabilitation is desirable. Dental rehabilitation shortly after reconstruction with an osteocutaneous free flap and resection prosthesis is a persistent challenge for patients with oncologic defects where immediate dental rehabilitation is not a possibility. Additionally, conventional prosthesis fabrication techniques are impractical or impossible due to postoperative anatomical changes and limitations in clinical armamentarium. To address these limitations, a technique and a novel implant-supported prosthetic workflow for the oncologic patient were developed to provide interim dental rehabilitation for such clinical situations. This article describes the prosthesis fabrication technique, reports short-term outcomes, and evaluates patient-reported quality-of-life outcomes using the FACE-Q Head and Neck Cancer Module.

Background: Transcatheter mitral valve repair with the MitraClip system has been shown to be safe and effective for the treatment of significant primary mitral regurgitation (MR) in patients deemed prohibitive risk for surgery. This analysis evaluated the outcomes of MitraClip repair in primary MR subjects with STS PROM (Society of Thoracic Surgeons Predicted Risk of Mortality) score <6% for surgical repair and <8% for replacement from the global EXPAND (A Contemporary, Prospective Study Evaluating Real-World Experience of Performance and Safety for the Next Generation of MitraClip Devices) study.
Method(s): EXPAND is a prospective, multicenter, international, single-arm study that enrolled subjects at 57 centers in Europe and the United States. All echocardiograms were analyzed by an independent echo core laboratory, and major adverse events were adjudicated by an independent clinical events committee. Study outcomes included MR severity, procedural outcomes, major adverse events, New York Heart Association functional class and KCCQ (Kansas City Cardiomyopathy Questionnaire) score.
Result(s): Four hundred and twenty subjects with primary MR had adequate baseline echocardiographic imaging for assessment by the echo core laboratory. Of the 420 subjects, at least 166 patients either had an STS repair score <6% and an STS replacement score <8%. Average age was 77.2 +/- 10.4 years old, and 54% of the subjects were men. STS PROM score for surgical repair was 2.9 +/- 1.3% and replacement was 4.6 +/- 1.8%. Echo core laboratory-adjudicated acute procedural success, defined as survival to discharge with a successful implant resulting in reduction to MR severity <=2+, was achieved in 93.4% of the subjects. Clinical events committee-adjudicated all-cause mortality rate at 30 days was 1.2% (n = 2), and major adverse events rate was 4.2% (n = 7). MR reduction to <=2+ and MR <=1+ were achieved in 98% and 89% of subjects at 30 days, respectively. The reduction in MR severity was also associated with a significant reduction in left ventricle end-diastolic dimension (52.9 +/- 6.8 mm to 49.9 +/- 7.2 mm; n = 144; p < 0.0001) and volume (126.1 +/- 50.5 ml to 114.5 +/- 44.9 ml; n = 138; p < 0.0001). There were also improvements in functional capacity (69% New York Heart Association functional class III/IV at baseline vs. 18% at 30 days; p < 0.0001) and quality of life (mean change in KCCQ score from baseline to 30 days: +18.7 +/- 24.0; p < 0.0001). Univariate analysis of MR reduction (2 grades or more) were baseline MR severity (p < 0.0001), peak E velocity (p < 0.037), mean mitral gradient (p < 0.026), presence of ruptured chordae (p < 0.001), leaflet flail (p < 0.0002), leaflet billowing (p < 0.0001), and prolapse or flail gap (p < 0.037).
Conclusion(s): In patients with primary MR and an STS repair risk score <6% and replacement score <8%, the MitraClip NTR and XTR system was found to be safe and effective at reducing MR and improving left ventricular remodeling and was associated with significant improvements in quality of life and functional capacity. Categories: STRUCTURAL: Valvular Disease: Mitral
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The aim of facial transplantation (FT) was to enhance quality of life (QoL) for individuals living with severe facial disfigurement. Yet QoL has proved challenging to assess, as the field lacks a unified approach for incorporating FT recipients' perspectives into meaningful QoL measures. In this study, we review FT recipients' self-reported QoL through a qualitative analysis of publicly available posttransplant interviews to identify the aspects of QoL they report as meaningful.

Trismus is a known complication following treatment of oral and oropharyngeal cancers, with radiation therapy reported as a known risk factor for its development. The prevention of trismus after radiation therapy is hard to achieve, with no clear benefit of early prophylactic rehabilitation. Pterygomasseteric myotomy and coronoidectomy are well described procedures in the management of extra-articular trismus. Herein, we present 2 cases of temporomandibular joint dislocation as a cautionary tale of the potential risk for temporomandibular joint dislocation and need for closed reduction and maxillomandibular fixation.