Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly detrimental in oncology where rearrangements play diagnostic and prognostic roles. Here we describe the use of Hi-C as a tool for detection of both balanced and unbalanced chromosomal rearrangements in primary human tumour samples, with the potential to define chromosome breakpoints to bp resolution. In addition, we show copy number profiles can also be obtained from the same data, all at a significantly lower cost than standard sequencing approaches

Cervical cancer survival in the United States by race and stage (2001-2009): Findings from the CONCORD-2 study.

BACKGROUND: Overall, cervical cancer survival in the United States has been reported to be among the highest in the world, despite slight decreases over the last decade. Objective of the current study was to describe cervical cancer survival trends among US women and examine differences by race and stage. METHODS: This study used data from the CONCORD-2 study to compare survival among women (aged 15-99 years) diagnosed in 37 states covering 80% of the US population. Survival was adjusted for background mortality (net survival) with state- and race-specific life tables and was age-standardized with the International Cancer Survival Standard weights. Five-year survival was compared by race (all races, blacks, and whites). Two time periods, 2001-2003 and 2004-2009, were considered because of changes in how the staging variable was collected. RESULTS: From 2001 to 2009, 90,620 women were diagnosed with invasive cervical cancer. The proportion of cancers diagnosed at a regional or distant stage increased over time in most states. Overall, the 5-year survival was 63.5% in 2001-2003 and 62.8% in 2004-2009. The survival was lower for black women versus white women in both calendar periods and in most states; black women had a higher proportion of distant-stage cancers. CONCLUSIONS: The stability of the overall survival over time and the persistent differences in survival between white and black women in all US states suggest that there is a need for targeted interventions and improved access to screening, timely treatment, and follow-up care, especially among black women. Cancer 2017;123:5119-37. Published 2017. This article is a U.S. Government work and is in the public domain in the USA

Adherence to colorectal cancer screening guidelines in Canada

<p>Abstract</p> <p>Background</p> <p>To identify correlates of adherence to colorectal cancer (CRC) screening guidelines in average-risk Canadians.</p> <p>Methods</p> <p>2003 Canadian Community Health Survey Cycle 2.1 respondents who were at least 50 years old, without past or present CRC and living in Ontario, Newfoundland, Saskatchewan, and British Columbia were included. Outcomes, defined according to current CRC screening guidelines, included adherence to: i) fecal occult blood test (FOBT) (in prior 2 years), ii) endoscopy (colonoscopy/sigmoidoscopy) (prior 10 years), and iii) adherence to CRC screening guidelines, defined as either (i) or (ii). Generalized estimating equations regression was employed to identify correlates of the study outcomes.</p> <p>Results</p> <p>Of the 17,498 respondents, 70% were non-adherent CRC screening to guidelines. Specifically, 85% and 79% were non-adherent to FOBT and endoscopy, respectively. Correlates for all outcomes were: having a regular physician (OR = (i) 2.68; (ii) 1.91; (iii) 2.39), getting a flu shot (OR = (i) 1.59; (ii) 1.51; (iii) 1.55), and having a chronic condition (OR = (i) 1.32; (ii) 1.48; (iii) 1.43). Greater physical activity, higher consumption of fruits and vegetables and smoking cessation were each associated with at least 1 outcome. Self-perceived stress was modestly associated with increased odds of adherence to endoscopy and to CRC screening guidelines (OR = (ii) 1.07; (iii) 1.06, respectively).</p> <p>Conclusion</p> <p>Healthy lifestyle behaviors and factors that motivate people to seek health care were associated with adherence, implying that invitations for CRC screening should come from sources that are independent of physicians, such as the government, in order to reduce disparities in CRC screening.</p

Probing forces of menisci: what levels are safe for arthroscopic surgery

Purpose To facilitate effective learning, feedback on performance during arthroscopic training is essential. Less attention has been paid to feedback on monitoring safe handling of delicate tissues such as meniscus. The goal is to measure in vitro probing forces of menisci and compare them with a theoretical maximum probing force (TMPF). Method Menisci samples of ten cadavers were mounted on force platforms to measure probing forces up to 20 N in three directions. Nineteen subjects participated: six novices (experience 60 arthroscopies), and three faculty (>250 a year). All had to perform three tasks on each meniscus sample with an arthroscopic probe: push three times on the superior meniscal surface, perform one continuous run on the superior meniscal surface, and push three times on the inferior meniscal surface. The absolute maximum probing force (AMPF) was determined for each condition. A multivariable linear regression analysis was performed to assess the influence of experience on the force magnitude (P < 0.05). AMPFs were compared to the TMPF (estimated to be 8.5 N). Results The AMPF of the push task was on average 2.8 N (standard deviation (SD) of 0.8 N), of the continuous run task 2.5 N (SD 0.9 N), and of the pull task 3.9 N (SD 2.0 N). Significant difference was present between experts and novices (P < 0.05). The AMPFs are in the same order of magnitude as the TMPF. Conclusion The results indicate the necessity of using a safety level for tissue manipulation when training arthroscopy and a value for is magnitude.Biomechanical EngineeringMechanical, Maritime and Materials Engineerin

Appointment waiting times and education level influence the quality of bowel preparation in adult patients undergoing colonoscopy

<p>Abstract</p> <p>Background</p> <p>Risk factors for poor bowel preparation are recognized to be independent of the type of bowel preparation method used. Patient and administrative factors influencing bowel preparation are known to vary in different healthcare systems.</p> <p>Methods</p> <p>A prospective, cross-sectional study of patients undergoing colonoscopy in an Asian tertiary centre was conducted to identify risk factors associated with poor bowel preparation, and to evaluate the impact of poor bowel preparation on technical performance and patient comfort.</p> <p>Results</p> <p>Data on 501 patients (mean age 60.1 ± 14.0 years old, 51.2% males, 60.9% with secondary education or higher) was available for analysis. Poor bowel preparation was present in 151 patients (30.1%). Lower education level (OR = 2.35, 95% CI = 1.54 - 3.60), colonoscopy appointment waiting time beyond 16 weeks (OR = 1.86, 95% CI = 1.04 - 3.37) and non-adherence to bowel preparation instructions (OR = 4.76, 95% CI = 3.00 - 7.55) were identified as independent risk factors for poor bowel preparation. Poor bowel preparation was associated with a lower cecal intubation rate (78.1% versus 98.3%, p < 0.001), prolonged total colonoscopy time (25.4 ± 12.6 minutes versus 16.7 ± 10.2 minutes, p < 0.001), and increased patient discomfort during colonoscopy (patient with moderate to severe abdominal discomfort 31.8% versus 3.2%, p < 0.001).</p> <p>Conclusions</p> <p>Education levels and appointment waiting times, in addition to non-adherence to bowel preparation instructions, increase the risk of poor bowel preparation in adult patients undergoing colonoscopy. The latter has a significant impact on colonoscopy performance and patient comfort.</p

Persistent demographic differences in colorectal cancer screening utilization despite Medicare reimbursement

BACKGROUND: Colorectal cancer screening is widely recommended, but often under-utilized. In addition, significant demographic differences in screening utilization exist. Insurance coverage may be one factor influencing utilization of colorectal cancer screening tests. METHODS: We conducted a retrospective analysis of claims for outpatient services for Washington state Medicare beneficiaries in calendar year 2000. We determined the proportion of beneficiaries utilizing screening fecal occult blood tests, flexible sigmoidoscopy, colonoscopy, or double contrast barium enema in the overall population and various demographic subgroups. Multiple logistic regression analysis was used to determine the relative odds of screening in different demographic groups. RESULTS: Approximately 9.2% of beneficiaries had fecal occult blood tests, 7.2% had any colonoscopy, flexible sigmoidoscopy, or barium enema (invasive) colon tests, and 3.5% had invasive tests for screening indications. Colonoscopy accounted for 41% of all invasive tests for screening indications. Women were more likely to receive fecal occult blood test screening (OR 1.18; 95%CI 1.15, 1.21) and less likely to receive invasive tests for screening indications than men (OR 0.80, 95%CI 0.77, 0.83). Whites were more likely than other racial groups to receive any type of screening. Rural residents were more likely than urban residents to have fecal occult blood tests (OR 1.20, 95%CI 1.17, 1.23) but less likely to receive invasive tests for screening indications (OR 0.89; 95%CI 0.85, 0.93). CONCLUSION: Reported use of fecal occult blood testing remains modest. Overall use of the more invasive tests for screening indications remains essentially unchanged, but there has been a shift toward increased use of screening colonoscopy. Significant demographic differences in screening utilization persist despite consistent insurance coverage

Schwann cell hamartoma: case report

<p>Abstract</p> <p>Background</p> <p>Colorectal polyps of mesenchymal origin represent a small percentage of gastrointestinal (GI) lesions. Nevertheless, they are encountered with increasing frequency since the widespread adoption of colonoscopy screening.</p> <p>Case presentation</p> <p>We report a case of a small colonic polyp that presented as intramucosal diffuse spindle cell proliferation with a benign cytological appearance, strong and diffuse immunoreactivity for S-100 protein, and pure Schwann cell phenotype. Careful morphological, immunohistochemical and clinical evaluation emphasize the differences from other stromal colonic lesions and distinguish it from schwannoma, a circumscribed benign nerve sheath tumor that rarely arises in the GI tract.</p> <p>Conclusion</p> <p>As recently proposed, this lesion was finally described as mucosal Schwann cell hamartoma.</p