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Purpose: To review the literature on branchio-oculo-facial syndrome and describe a new case. Methods: A girl presented with a de novo pathogenic mutation in the TFAP2A gene consistent with branchiooculo-facial syndrome. A systematic review was also performed to characterize the eye manifestations associated with the syndrome. Results: A total of 172 total patients were identified from the literature. Among these, 102 patients received molecular confirmation. The most common pathogenic variants reported were p.R255G, p.A256V, p.R254W, and p.G251E. Common eye abnormalities associated with the syndrome in total combined cases (represents individuals with a clinical diagnosis only of branchiooculo-facial syndrome plus those who additionally had molecular confirmation of the syndrome from genetic testing) were nasolacrimal duct stenosis (n = 98, 57%), coloboma (n = 76, 46%), anophthalmia/microphthalmia (n = 64, 37%), and cataracts (n = 27, 16%). Conclusions: This analysis provides a comprehensive review of genetic variants and ophthalmic findings to characterize the most common eye manifestations associated with branchio-oculo-facial syndrome. The report provides incentive to further investigate TFAP2A variants and identify genotype-phenotype correlations. [ J Pediatr Ophthalmol Strabismus . 20XX;XX(X):XX–XX.]

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Purpose: Delivering linguistically competent care is critical to serving limited English proficiency patients, and represents a key national strategy to reduce health disparities. Current acceptable standards of communication with non-English speaking patients include providers communicating through professional interpretive services, or bilingual providers speaking patients’ non-English languages directly. This study tests the impact of patient-provider language concordance on patient satisfaction through the conduct of a randomized clinical trial. Methods and Materials: Eighty-three adult Spanish-speaking cancer patients were randomized to receive care from either 1) a bilingual physician speaking to a patient directly in Spanish or 2) from the same physician speaking English and using a professional interpreter service. Validated questionnaires were administered to assess patient-reported satisfaction with both provider communication and overall care. Audio recordings of initial consultations with oncologists were transcribed and analyzed for content variations. Results: Compared to using professional interpretive services, patients cared for in direct Spanish reported significantly improved general satisfaction, technical quality of care, care team interpersonal manner, communication, and time spent with patient. Specific to physician communication, patients rated direct Spanish care more highly in perceived opportunity to disclose concerns, physician empathy, confidence in physician abilities, and general satisfaction with their physician. Analyzing the content of consultation encounters revealed differences between study arms, with the direct Spanish arm having more physician speech related to patient history verification and partnering activities. Additionally, patients in the direct-Spanish arm were more likely to initiate unprompted speech, and ask their providers questions. Conclusions: This study demonstrates improved patient-reported satisfaction among Spanish-speaking cancer patients cared for in direct Spanish compared to patients cared for with interpreter-based communication. Further research into interventions to mitigate this patient-provider language barrier is necessary to optimize care for this minority population. Citation Format: Daniel M Seible, Souma Kundu, Alexa Azuara, Daniel Cherry, Steven Arias, Vinit Nalawade, Jonathan Cruz, Rolando Arreola, Elena M Martinez, Jesse Nodora, Douglas A Rahn, James D Murphy. The influence of patient-provider language concordance in cancer care: Results of the Hispanic Outcomes by Language Approach (HOLA) randomized trial [abstract]. In: Proceedings of the Twelfth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2019 Sep 20-23; San Francisco, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl_2):Abstract nr A035.

Pediatric malignancies are rare compared to adult cancers, and cooperative groups such as the Children's Oncology Group (COG) serve critical roles in testing key question in clinical trials. We sought to characterize the prevalence of off-study treatment of pediatric patients per Children's Oncology Group (COG) trials, as this approach may offer improved clinical outcomes but may also subject children to treatment with suboptimal, unproven regimens. Materials/Methods: We conducted a 12-question REDCap survey that was sent to 358 radiation oncologists listed as members of COG. Radiation oncologists were queried regarding their practice patterns for recent and ongoing COG protocols for medulloblastoma (ACNS0331, ACNS1422), ependymoma (ACNS0121), neuroblastoma (ANBL0532), Ewing sarcoma (AEWS1221), rhabdomyosarcoma (ARST1431), and Hodgkin lymphoma (AHOD1331). Data were collected anonymously through January 2020. Results: We received 97 responses (27.1%). The most common factor affecting consideration of immediate adoption of COG trial paradigms was improvement of clinical outcomes (n Z 70, 77.8%). Nine radiation oncologists treated average-risk medulloblastoma with 18 Gy craniospinal irradiation (CSI) off-study prior to publication of the ACNS0331 results (abstract, 2016). Eight physicians consider 18 Gy CSI for WNT-driven average-risk medulloblastoma, per the open ACNS1422. Of the 21 respondents who omitted radiation for grade II supratentorial ependymomas after gross total resection (GTR), 9 still consider this approach off-study since publication of ACNS0121 that showing 5 out of 11 patients recurring in the observation arm. Of the 50 radiation oncologists who treated highrisk neuroblastoma with boost to 36 Gy if GTR was not achieved, per ANBL0532, 10 still consider boost since publication of the ANBL0532 abstract (2019) that showed no benefit to the boost. Thirty-two respondents treated metastatic Ewing sarcoma with SBRT per AEWS1221, off-study. Twenty chose SBRT doses other than the AEWS1221-recommended 40 Gy in 5 fractions. Forty-one treated group 3 rhabdomyosarcoma with radiation tailored to chemotherapy-response per the open ARST1431 study. Fifty-four who treat high-risk Hodgkin lymphoma considered radiation to bulky mediastinal disease or sites with poor response to chemotherapy and 74 used involved site radiotherapy (ISRT) as prescribed by the open AHOD1331 study. Conclusion: Many pediatric radiation oncologists adopt COG trial treatment regimens before data are available in either abstract or final peer-reviewed form. This approach has the potential to offer patients state-of-the-art treatments, early in their development. However, given that some trials find no benefit and/or disclose detriment of tested radiation treatment paradigms, it is increasingly important to enroll patients on trial rather than follow regimens of open clinical trials, off-study, prior to availability of the results.