Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy.

INTRODUCTION: While non-mosaic genome-wide paternal uniparental disomy (patUPD) is consistent with complete hydatidiform mole, the prenatal presentation of mosaic genome-wide patUPD is not well defined. This report adds another case to the small cohort of patients with the rare genetic disorder of mosaic genome-wide patUPD and provides one of the few examples of a prenatal presentation of this disease. We discuss ultrasound findings and prenatal analysis to review predominant genetic and clinical features associated with mosaic genome-wide patUPD. CASE PRESENTATION: A 30-year-old gravida 1 para 0 woman was referred at 10 weeks gestation due to an abnormal first-trimester ultrasound suggesting a partial molar pregnancy. The patient undertook genetic counseling and reviewed possible genetic etiologies and testing options. Karyotype analysis demonstrated a female fetus (46, XX). The BWS methylation pattern suggested the absence of maternally derived copies of IC1 (H19) and IC2 (LIT1) critical regions, which could result from patUPD of chromosome 11. CMA of cultured amniocytes was significant for arr(1-22,X)x2 hmz, consistent with genome-wide absence of heterozygosity (shown in Fig. 3). DISCUSSION/CONCLUSION: This case report is intended to add to the limited knowledge regarding prenatal diagnosis of mosaic genome-wide patUPD by highlighting the ultrasound findings, the genetic testing performed, and fetal outcome. The fetal karyotype was normal. CMA was consistent with a molecular diagnosis of GWUPD. Low-level mosaicism in our sample was inferred given the clinical presentation of a developing fetus. Methylation studies were consistent with a diagnosis of BWS. The diagnosis of genome-wide patUPD using CMA provides further knowledge of UPD and its functional relevance. In a prenatal setting, a CMA profile without heterozygosity is typical of a complete molar pregnancy. However, in the presence of a fetus, it likely represents mosaic GWUPD, a rare condition that is usually of paternal origin.

Lost in Translation: An OSCE-Based Workshop for Helping Learners Navigate a Limited English Proficiency Patient Encounter.

Introduction: Residents have been known to report a lack of self-efficacy in their ability to provide care for limited English proficiency (LEP) patients. Interpreters must be utilized to help navigate these patient encounters, but many institutions do not have a curriculum focused on utilizing interpreters effectively. Methods: We created a 3-hour workshop for physician learners working with the pediatric population. It included a panel discussion, best-practices presentation, video demonstration, observing scenarios, and pre- and postworkshop objective structured clinical exams (OSCEs). The first OSCE introduced learners to a scenario (4-day-old with jaundice with an LEP parent) where interpreter use was imperative. The second OSCE allowed learners to perform another case (12-year-old with an abscess with an LEP parent) and practice newly obtained skills from the workshop. Both OSCEs were scored using a 16-item yes/no checklist. All pediatric residents filled out an eight-item survey to evaluate the workshop; a subset of that group performed the pre- and postworkshop OSCEs. Results: Forty pediatric residents attended the workshop and completed the survey. The workshop was well received, with the majority of residents stating they would change their current interpreter usage practices. Ten pediatric residents performed the pre- and postworkshop OSCEs; all improved their scores. Discussion: The workshop was effective in improving how residents navigated LEP encounters. It is applicable to learners of all levels who want to improve their communication skills to provide better care for LEP patients and can be tailored to fit the needs of a specific institution.

Recurrence patterns and postrecurrence survival after curative intent resection for pancreatic ductal adenocarcinoma.

BACKGROUND: Pancreatic ductal adenocarcinoma has a high rate of recurrence after resection. We aimed to investigate patterns of recurrence of pancreatic ductal adenocarcinoma to identify opportunities for targeted intervention toward improving survival. METHODS: This was a retrospective analysis of consecutive patients that underwent curative-intent resection for pancreatic ductal adenocarcinoma between 2007 and 2015. Recurrence and survival were analyzed based on site of recurrence. Multiple clinicopathologic factors were calculated for likelihood of site-specific recurrence. RESULTS: The study included 221 patients with median follow-up of 83 months. Median overall and recurrence-free survival was 19 and 13 months, respectively. Recurrence was observed in 71.9% patients. Local recurrence occurred in 16.4%, distant recurrence in 67.3%, and combined in 15.9%. The most common site of distant recurrence was the liver (49.7%) followed by lung (31.8%) and peritoneum (16.6%). Median time to liver recurrence was shortest (5 months, 95% confidence interval 1.7-8.3) and post recurrence survival was poor (4 months, 95% confidence interval 1.9-6.1). Patients with poorly differentiated tumors on pathology were 4.8 times more likely to recur in the liver (odds ratio 4.83, 95% confidence interval 1.7-13.9). CONCLUSION: Liver metastasis after resection of pancreatic ductal adenocarcinoma occurs most frequently, earliest after surgery, and is rapidly fatal. Liver-directed therapies represent a target for future study.