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SummaryBackgroundEstimation of the prevalence of oesophageal narrowing and its clinical relevance in patients with oesophageal eosinophilia is probably underestimated by endoscopy.AimsTo determine the sensitivity and specificity of oesophagogastroduodenoscopy (EGD) for oesophageal narrowing when compared to a structured oesophagram.MethodsWe conducted a retrospective chart review at Mayo Clinic, Rochester of adult patients with eosinophilic oesophageal infiltration of >15 eosinophils/hpf with symptomatic dysphagia, who underwent a structured barium oesophagram. The sensitivity and specificity of EGD were evaluated against the gold standard of oesophagram. Demographic and multiple clinical factors were evaluated as potential predictors of oesophageal narrowing.ResultsOf the 58 patients identified, 34 (58.6%) had a narrowed oesophageal diameter (<21 mm). EGD had poor sensitivity (14.7%, 95% CI 5.0–31.1%) for detection of a narrowed oesophagus and only modest specificity (79.2%, 95% CI 57.8–92.9%). Even at a cut‐off diameter of EDmax ≤ 15 mm, EGD had a sensitivity of only 25.0% (95% CI 5.5–57.2%) for narrowed oesophagus. A history of >5 food impaction episodes, endoscopic rings, and female sex were the best predictors of oesophageal narrowing. 86% (6/7) patients with persistent dysphagia despite remission of histological eosinophilia responded to oesophageal dilation all of whom had radiological oesophageal narrowing and 71% of whom had no perceived oesophageal narrowing at EGD.ConclusionsSymptomatic oesophageal narrowing identified by barium oesophagography is common and under‐recognised at endoscopy in patients with oesophageal eosinophilia.

Abstract Therapies that activate the immune system through blocking the binding of programmed death ligand 1 (PD-L1) present on tumors and PD-1 (programmed death 1) present on activated immune cells are revolutionizing the care for patients with cancer. These therapies work by inhibiting negative regulators of the immune system, thereby decreasing a tumor's ability to evade the immune system. The side effects of anti–PD-1/PD-L1 therapies are generally mild and as expected are related to autoimmune reactions. Two of the most common side effects of anti–PD-1/PD-L1 therapies are rash and pruritus occurring in approximately 20% of patients. Although the rash is generally recognized to be immune mediated, the exact mechanisms of the rash remain unclear. Herein, we report three cases of lichenoid dermatitis in three patients treated with MK-3475 (anti–PD-1) that were characterized with marked T-cell infiltrates with few PD-1–positive cells. The rashes in all three patients were relatively mild, allowing treatment to continue despite the rashes. Cancer Immunol Res; 3(1); 18–22. ©2014 AACR.

Syncope is common representing approximately 3% of ED visits and up to 6% of hospital admissions, with a cost close to 2 billion dollars per year. Diagnostic testing is often poorly sensitive and evaluations commonly lack a standardized approach. A mindful and systematic approach can increase sensitivity and improve diagnostic accuracy. A thorough history and physical exam is paramount, as conclusions drawn from the history and exam will guide further assessment. Developing a strategy for the first and, if necessary, subsequent tests will improve the accuracy of identifying the etiology of syncope and reduce cost. Although syncope has a favorable prognosis, identification of patients with structural heart disease is critical, as these patients are at greatest risk for mortality. Several risk scoring systems have been developed to help separate high risk from low risk patients.

Background: Existing knee joint–specific outcome questionnaires lack content pertinent to patients with multiligament knee injuries. Purpose: To develop and test the reliability and validity of a novel disease-specific quality of life questionnaire for patients with multiligament knee injuries. Study Design: Cohort study (diagnosis); Level of evidence, 2. Methods: Participants in this study included patients with multiligament knee injuries and clinician experts. Inclusion criteria were (1) patients with multiligament knee injury (age, 18-60 years), (2) ≥6 months after injury, and (3) operative or nonoperative treatment. Exclusion criteria were (1) preexisting osteoarthritis or inflammatory arthritis and (2) intracerebral/spinal cord injury. In phase I of the study, 85 eligible patients were mailed a questionnaire composed of 132 items from 11 existing knee questionnaires. Items were rated with regard to importance and frequency on a 5-point Likert scale. Criteria for inclusion in the first draft of the Multiligament Quality of Life (MLQOL) questionnaire included mean importance rating ≥3.5 and frequency <30% for the response “never experienced.” In phase II, patient focus groups and expert interviews were conducted until no further new content was generated for the MLQOL, and in phase III, 99 eligible patients across 2 centers were mailed a preliminary MLQOL questionnaire along with the Tegner activity scale, Short Form (SF)–36, and anchor questions. Interitem and item-to-total correlations were used to perform item reduction to generate a final MLQOL instrument, which was tested for internal consistency (Cronbach alpha), test-retest reliability (interclass correlation coefficient [ICC]), and construct validity. Results: At the end of phase III, a final MLQOL instrument was developed that was composed of 4 domains (physical impairments [PI], emotional impairments [EI], activity limitations [AL], and societal involvement [SI]) with 52 items in total. The MLQOL had adequate content validity, as none of the domains had any floor or ceiling effects. The Cronbach alpha was .94 (PI), .93 (EI), .94 (AL), and .91 (SI); ICC values were .89 (PI), .86 (EI), .91 (AL), and .88 (SI). Seven of 8 a priori hypotheses were satisfied, indicating good construct validity. Conclusion: The MLQOL instrument is a novel disease-specific quality of life tool that has demonstrated excellent content validity, reliability, and construct validity.

Significance The major portion of hereditary breast cancer still remains unexplained, and many susceptibility loci are yet to be found. Exome sequencing of 24 high-risk familial BRCA1/2 -negative breast cancer patients and further genotyping of a large sample set of breast/ovarian cancer cases and controls was used to discover previously unidentified susceptibility alleles and genes. A significant association of a FANCM nonsense mutation with breast cancer, especially triple-negative breast cancer, identifies FANCM as a breast cancer susceptibility gene. Identification of such risk alleles is expected to improve cancer risk assessment for breast cancer patients and families, and may lead to improvements in the prevention, early diagnosis, and treatment of cancer.

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