Uptake of Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis.

This is a systematic review and meta-analysis evaluating the uptake of cascade genetic testing for hereditary breast and ovarian cancer syndrome. Among 30 studies included for meta-analysis, the uptake of cascade genetic testing was 33% (95% CI 25%-42%), with higher uptake rates among females compared with male relatives, and among first-degree compared with second-degree relatives. These findings indicate suboptimal uptake of cascade genetic testing among people at risk for hereditary breast and ovarian cancer syndrome, representing a missed opportunity for cancer prevention and early detection.

Timely targeted testing for hereditary cancer syndromes - Importance of clinician-facilitated cascade testing in the first year post-diagnosis.

Objective: Cascade testing for hereditary cancer syndromes allows relatives to estimate cancer risk and pursue prevention and early detection strategies. The current paradigm relies on patient coordinated care, resulting in only one-third of relatives successfully completing testing. Studies suggest that team-based approaches, where clinicians facilitate testing, can increase uptake.

Protocol for Health Risk Information Technology-Assisted Genetic Evaluation (HeRITAGE): a randomised controlled trial of digital genetic cancer risk assessment in a diverse underserved gynaecology clinic.

Introduction: In the USA, up to 95% of individuals harbouring cancer-predisposing germline pathogenic variants have not been identified despite recommendations for screening at the primary care level.

Methods And Analysis: Our primary objective is to use a two-arm, single-institution randomised controlled trial to compare the proportion of eligible patients that are recommended genetic testing for hereditary cancer syndromes using a digital tool versus clinician interview for genetic cancer risk assessment in an urban academic gynaecology clinic. New gynaecology patients will be consented and randomised 1:1 to either the intervention arm, in which a digital tool is used for genetic cancer risk assessment, or usual care, in which the clinician performs genetic cancer risk assessment.

LGBTQ+ individuals are not explicitly represented in emergency medicine simulation curricula.

Background: Medical educational societies have emphasized the inclusion of marginalized populations, including the lesbian, gay, bisexual, transgender and queer (LGBTQ+) population, in educational curricula. Lack of inclusion can contribute to health inequality and mistreatment due to unconscious bias. Little didactic time is spent on the care of LGBTQ+ individuals in emergency medicine (EM) curricula.

Personalized survivorship care: Routine breast cancer risk assessment in the gynecologic oncology clinic.

Introduction: Gynecologic and breast cancers share several risk factors. Breast cancer risk assessment tools can identify those at elevated risk and allow for enhanced breast surveillance and chemoprevention, however such tools are underutilized. We aim to evaluate the use of routine breast cancer risk assessment in a gynecologic oncology clinic.

Integration and usability of a digital cancer risk stratification tool to optimize identification of patients at risk for hereditary cancers: A pilot study.

Background: Patients with a personal or family history of cancer may have elevated risk of developing future cancers, which often remains unrecognized due to lapses in screening. This pilot study assessed the usability and clinical outcomes of a cancer risk stratification tool in a gynecologic oncology clinic.

Methods: New gynecologic oncology patients were prompted to complete a commercially developed personal and family history-based risk stratification tool to assess eligibility for genetic testing using National Comprehensive Cancer Network criteria and estimated lifetime breast cancer risk using the Tyrer-Cuzick model.

Complete Genome Sequence of Bacteriophage Eula, Isolated on Microbacterium foliorum.

Eula is a lytic microbacteriophage extracted from a soil sample collected in Statesville, NC, and isolated on Microbacterium foliorum NRRL B-24224. The Eula double-stranded DNA genome is 41,379 bp, with 69 predicted protein-coding genes and 1 tRNA. Based on gene content similarity, Eula was assigned to bacteriophage cluster EB.

Enhancement of Cricothyroidotomy Education Using a Novel Technique: Cadaver Autografting.

Background: Cricothyroidotomy is a lifesaving procedure required in up to 2% of emergent airways. Emergency medicine training programs frequently instruct this procedure via cadaver training, but cadaver cost and availability limit the opportunity for all trainees to perform the critical initial skin incision. Cadaver autografting is a novel way to simulate all steps of the procedure.

Vertical variation of mixing within porous sediment beds below turbulent flows.

River ecosystems are influenced by contaminants in the water column, in the pore water and adsorbed to sediment particles. When exchange across the sediment-water interface (hyporheic exchange) is included in modeling, the mixing coefficient is often assumed to be constant with depth below the interface. Novel fiber-optic fluorometers have been developed and combined with a modified EROSIMESS system to quantify the vertical variation in mixing coefficient with depth below the sediment-water interface.

Defining a New Prognostic Index for Stage I Nonseminomatous Germ Cell Tumors Using CXCL12 Expression and Proportion of Embryonal Carcinoma.

Purpose: Up to 50% of patients diagnosed with stage I nonseminomatous germ cell tumors (NSGCTs) harbor occult metastases. Patients are managed by surveillance with chemotherapy at relapse or adjuvant treatment up front. Late toxicities from chemotherapy are increasingly recognized.

Adolescents Who Visit the Emergency Department Are More Likely to Make Unhealthy Dietary Choices: An Opportunity for Behavioral Intervention.

To identify health behaviors that may be amenable to brief screening and intervention among children in the emergency department (ED), we described the prevalence of health behaviors known to contribute to childhood obesity among middle school students who used the ED recently. Participants included 1590 5th, 7th, and 8th grade students who completed health surveys in 2011. Multivariate logistic regression was used to examine the association between health behaviors and ED use.

One cancer destroys another: short report of a myeloid sarcoma causing ischaemic necrosis of an adenocarcinoma.

We present a highly unusual case and histological images of a patient who underwent complete resection of a perforated caecal adenocarcinoma caused by angiodestruction of the proximal vasculature by a distinct acute myeloid infiltrate. Both tumours were removed in their entirety at one visit to theatre and the patient remains well and in remission 18 months later.

Perfusion CT vascular parameters do not correlate with immunohistochemically derived microvessel density count in colorectal tumors.

Purpose: To determine whether perfusion computed tomography (CT)-derived vascular parameters-namely, blood flow, mean transit time (MTT), volume transfer constant (K(trans)), permeability-surface area product (PS), extracellular extravascular space volume, and vascular volume-correlate with the immunohistologic markers of angiogenesis in colorectal tumors.

Materials And Methods: This prospective study was approved by the Regional Ethics and Research and Development Committees. The perfusion CT protocol was incorporated in the staging CT after informed consent in 29 patients (14 men, 15 women; mean age, 70 years; age range, 55-94 years).

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.

Objective: Colorectal cancer (CRC) has a substantial heritable component. Common genetic variation has been shown to contribute to CRC risk. A study was conducted in a large multi-population study to assess the feasibility of CRC risk prediction using common genetic variant data combined with other risk factors.

Comprehensive evaluation of the impact of 14 genetic variants on colorectal cancer phenotype and risk.

To comprehensively evaluate the impact of recently identified colorectal cancer (CRC) variants at 1q41, 3q26.2, 8q23.3, 8q24.

Short-term outcomes of the prone perineal approach for extra-levator abdomino-perineal excision (elAPE).

Background: Many studies report that low rectal cancer treated with abdomino-perineal excision (APE) have higher rates of CRM involvement with associated local recurrence and worse survival when compared to low anterior resection. We present a single surgeon's short-term outcomes using the prone perineal extra-levator (elAPE) approach.

Methods: Thirty-one patients between 2006 and 2010 underwent elAPE with curative intent.

Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.

Recent genome-wide association studies have identified single-nucleotide polymorphisms at 16 genetic loci associated with colorectal cancer risk: rs6691170 (1q41), rs10936599 (3q26.2), rs16892766 (8q23.3), rs6983267 (8q24.

Genomic gain and over expression of CCL2 correlate with vascular invasion in stage I non-seminomatous testicular germ-cell tumours.

Testicular germ-cell tumours (TGCT) are the most frequent solid tumour to affect young Caucasian adult males and have increased in incidence over recent decades. In clinical stage I non-seminomas, (NSGCT) histological vascular invasion (VI) is a prognostic factor for metastatic relapse. Using array comparative genomic hybridization, we have previously shown that the presence of VI is associated with gain of a region at 17q12, containing a cluster of genes encoding inflammatory cytokines.

MLH1-93G > A is a risk factor for MSI colorectal cancer.

The -93G > A (rs1800734) polymorphism within the core promoter region of the MutL homolog 1 (MLH1) gene has recently been proposed as a low penetrance variant for colorectal cancer (CRC). We evaluated the significance of rs1800734 on CRC risk by genotyping 10 409 CRC cases and 6965 controls. The per allele odds ratio (OR) for all CRC-associated MLH1-93G > A was 1.

Reduction of off-flavor generation in soybean homogenates: a mathematical model.

Unlabelled: The generation of off-flavors in soybean homogenates such as n-hexanal via the lipoxygenase (LOX) pathway can be a problem in the processed food industry. Previous studies have examined the effect of using soybean varieties missing one or more of the 3 LOX isozymes on n-hexanal generation. A dynamic mathematical model of the soybean LOX pathway using ordinary differential equations was constructed using parameters estimated from existing data with the aim of predicting how n-hexanal generation could be reduced.

Mismatch repair, minichromosome maintenance complex component 2, cyclin A, and transforming growth factor β receptor type II as prognostic factors for colorectal cancer: results of a 10-year prospective study using tissue microarray analysis.

Background: The expression of genes encoding a number of pathogenetic pathways involved in colorectal cancer could potentially act as prognostic markers. Large prospective studies are required to establish their relevance to disease prognosis.

Methods: We investigated the relevance of 19 markers in 790 patients enrolled in a large randomised trial of 5-fluorouracil using immunohistochemistry and chromogenic in situ hybridisation.

Minimum regions of genomic imbalance in stage I testicular embryonal carcinoma and association of 22q loss with relapse.

Testicular germ cell tumors (TGCT) are the most frequent solid tumor to affect young adult males and are histologically divided into seminomas and nonseminomas (NS). NS comprise undifferentiated embryonal carcinoma (EC) and differentiated tumors with embryonic (teratoma) or extra-embryonic (choriocarcinoma, yolk sac tumor) features. In contrast to other subtypes, EC have uniform cellular morphology and lack normal cell infiltrates, ideal for nucleic acid profiling.

A practical guide to constructing and using tissue microarrays.

Tissue microarray (TMA) technology is a robust "high throughput" method of tissue analysis, whereby a large number of patient samples can be examined in a short time using a minimum number of slides. In a TMA, cylinders of tissue are cored out of formalin-fixed, paraffin-embedded tissue blocks and slotted in a regular grid pattern into a blank recipient paraffin wax block. The TMA block is then cut using a standard laboratory microtome.