Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Background: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.

Methods: Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies.

Scurvy Presenting as Blood Loss Anemia in the United States.

Introduction: Scurvy is a deadly disease caused by a lack of vitamin C in the diet. Although frequently considered a disease from the past, it still occurs in modern-day society, including in developed countries.

Case Report: We report a case of an 18-year-old male who was admitted with bleeding into his legs, prolonged prothrombin time and partial thromboplastin time, and anemia requiring a blood transfusion.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation.

Urine Drug Screening in the Era of Designer Benzodiazepines: Comparison of Three Immunoassay Platforms, LC-QTOF-MS and LC-MS-MS.

This study investigated the presence of designer benzodiazepines in 35 urine specimens obtained from emergency department patients undergoing urine drug screening. All specimens showed apparent false-positive benzodiazepine screening results (i.e.

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

Purpose: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes.

Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS and CBC risk.

Lenalidomide-Epoetin Alfa Versus Lenalidomide Monotherapy in Myelodysplastic Syndromes Refractory to Recombinant Erythropoietin.

Purpose: Impaired response to erythropoietin underlies ineffective erythropoiesis and anemia in myelodysplastic syndromes (MDS). We investigated whether treatment with lenalidomide (LEN), which augments erythropoietin receptor signaling in vitro, can restore and improve hemoglobin response to epoetin (EPO) alfa in patients with lower-risk, non-del(5q) MDS who have anemia that is refractory to or have low probability of benefit from treatment with recombinant erythropoietin.

Methods: In a phase III, US intergroup trial, we randomly assigned patients to receive either LEN and EPO alfa or LEN alone following stratification by serum erythropoietin concentration and prior erythropoietin treatment.

Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer.

Unlabelled: Women with triple negative breast cancer (TNBC) have a high prevalence of BRCA1 mutations, and current clinical guidelines recommend genetic testing for patients with TNBC aged ≤60 years. However, studies supporting this recommendation have included few older women with TNBC.

Methods: Genetic testing results from women aged >60 years with TNBC enrolled in the Clinical Cancer Genomics Community Research Network (CCGCRN) registry were included in this analysis.

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.

A centralized system for providing dispatcher assisted CPR instructions to 9-1-1 callers at multiple municipal public safety answering points.

Background: Dispatcher CPR instruction increases the odds of survival. However, many communities do not provide this lifesaving intervention, often citing the barriers of limited personnel, funding, and liability.

Objective: Describe the implementation of a novel centralized dispatcher CPR instruction program that serves seven public safety answering points (PSAPs).

The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.

Background/objectives: Women diagnosed with breast cancer (BC) at an older age are less likely to undergo genetic cancer risk assessment and genetic testing since the guidelines and referrals are biased toward earlier age at diagnosis. Thus, we determined the prevalence and type of pathogenic cancer predisposition variants among women with a history of BC diagnosed at the age of 65 years or older vs younger than 65 years.

Design: Prospective registration cohort.

Integration of neuropsychology services in a sickle cell clinic and subsequent healthcare use for pain crises.

Growing literature has documented the clinical utility of neuropsychological evaluations for predicting functional outcomes, including reduced healthcare service utilization, in a variety of clinical samples. The present study investigates the relationship between the integration of clinical neuropsychology services into an existing outpatient sickle cell clinic and frequency of emergency department (ED) visits and hospitalizations for pain crises. Participants included 144 adults diagnosed with sickle cell disease (SCD) who either underwent neuropsychological evaluation (NP+), including interview, neuropsychological testing, and feedback, or treatment as usual (NP-).

The Stroop test as a measure of performance validity in adults clinically referred for neuropsychological assessment.

This study was designed to develop performance validity indicators embedded within the Delis-Kaplan Executive Function Systems (D-KEFS) version of the Stroop task. Archival data from a mixed clinical sample of 132 patients (50% male; M = 43.4; M = 14.

Epidemiology of sports-related concussion in seven US high school and collegiate sports.

Background: The epidemiology of sports-related concussion is not well-described in the literature. This paper presents a descriptive epidemiology of concussion in seven high school and collegiate sports.

Methods: We used the data from Concussion Prevention Initiative (CPI), which enrolled 8905 athletes at 210 high schools and 26 colleges in a prospective cohort study of 7 sports (football, men's and women's soccer, men's and women's lacrosse, and men's and women's ice hockey) between 1999 and 2001.

CVLT-II Forced Choice Recognition Trial as an Embedded Validity Indicator: A Systematic Review of the Evidence.

Objectives: The Forced Choice Recognition (FCR) trial of the California Verbal Learning Test, 2nd edition, was designed as an embedded performance validity test (PVT). To our knowledge, this is the first systematic review of classification accuracy against reference PVTs.

Methods: Results from peer-reviewed studies with FCR data published since 2002 encompassing a variety of clinical, research, and forensic samples were summarized, including 37 studies with FCR failure rates (N=7575) and 17 with concordance rates with established PVTs (N=4432).

Increasing Completion Rate of an M4 Emergency Medicine Student End-of-Shift Evaluation Using a Mobile Electronic Platform and Real-Time Completion.

Introduction: Medical students on an emergency medicine rotation are traditionally evaluated at the end of each shift with paper-based forms, and data are often missing due to forms not being turned in or completed. Because students' grades depend on these evaluations, change was needed to increase form rate of return. We analyzed a new electronic evaluation form and modified completion process to determine if it would increase the completion rate without altering how faculty scored student performance.

Patient and physician factors associated with participation in cervical and uterine cancer trials: an NRG/GOG247 study.

Purpose: The aim of this study was to identify patient and physician factors related to enrollment onto Gynecologic Oncology Group (GOG) trials.

Methods: Prospective study of women with primary or recurrent cancer of the uterus or cervix treated at a GOG institution from July 2010 to January 2012. Logistic regression examined probability of availability, eligibility and enrollment in a GOG trial.

Use and effectiveness of complementary therapies among women with interstitial cystitis.

Interstitial cystitis is a chronic condition that may go undiagnosed for years. Patients may turn to complementary therapies to find relief of symptoms. A survey was done to assess the use and effectiveness of these therapies by adult women diagnosed with the disorder.

Use of the National Cancer Institute Community Cancer Centers Program screening and accrual log to address cancer clinical trial accrual.

Purpose: Screening logs have the potential to help oncology clinical trial programs at the site level, as well as trial leaders, address enrollment in real time. Such an approach could be especially helpful in improving representation of racial/ethnic minority and other underrepresented populations in clinical trials.

Methods: The National Cancer Institute Community Cancer Centers Program (NCCCP) developed a screening log.

A mini external fixator for hand and finger fractures constructed from readily available materials.

Phalangeal and metacarpal fractures with severe comminution and/or soft tissue compromise can present a challenge for the orthopedic surgeon. Maintaining viability of the soft tissues while providing rigid fixation of bony injuries is the goal when treating these injuries. Commercially available mini external fixators can help to achieve these goals.

Estimating the diagnostic value of the trail making test for suboptimal effort in acquired brain injury rehabilitation patients.

This investigation explored the classification accuracy of Trail Making Test (TMT; Reitan & Wolfson, 1992) indices for suboptimal effort in a sample of non-litigious acquired brain injury patients seeking outpatient rehabilitation. Patients who exhibited optimal effort completed TMT A and B faster than suboptimal effort patients. Although TMT A time to completion demonstrated adequate sensitivity to suboptimal effort, positive predictive value was fair to poor unless the base rate of suboptimal effort was inflated to 40%.