Uptake of cancer risk management strategies among women who undergo cascade genetic testing for breast cancer susceptibility genes.

BACKGROUND: Uptake of cancer risk management based on inherited predispositions, which encompasses bilateral mastectomy (BLM), bilateral salpingo-oophorectomy (BSO), and intensified screening, is the primary motivation for cascade testing for hereditary breast and ovarian cancer (HBOC). However, long-term outcome data for cascade testers are lacking. METHODS: Medical records were abstracted for all unaffected women with pathogenic variants in HBOC genes from 2 cancer hospitals (2013-2019) with at least 1 year of follow-up to compare the uptake of surgery and screening between cascade and noncascade testers. RESULTS: Cascade testers (79.8%) were younger than noncascade testers (mean age, 37.6 vs 43.5 years; P = .002). Among women aged ≥40 years, 43% underwent BLM, and 71.6% underwent BSO, with no significant difference in uptake between cascade and noncascade testers. The mean time to BSO among cascade testers was shorter among women aged ≥40 years versus those aged <40 years (11.8 vs 31.9 months; P = .04); no such difference was observed among noncascade testers. Mammography and breast magnetic resonance imaging rates were low in the recorded 6 years for both groups after genetic counseling. CONCLUSIONS: Management uptake among cascade testers is high with rates comparable to those for unaffected BRCA-positive women. A large proportion of women act on cascade test results, and this represents a novel report of utilization of cancer management strategies.

Whole exome or genome sequencing: nurses need to prepare families for the possibilities.

AIMS: A discussion of whole exome sequencing and the type of possible results patients and families should be aware of before samples are obtained. BACKGROUND: To find the genetic cause of a rare disorder, whole exome sequencing analyses all known and suspected human genes from a single sample. Over 20,000 detected DNA variants in each individual exome must be considered as possibly causing disease or disregarded as not relevant to the person's disease. In the process, unexpected gene variants associated with known diseases unrelated to the primary purpose of the test may be incidentally discovered. Because family members' DNA samples are often needed, gene variants associated with known genetic diseases or predispositions for diseases can also be discovered in their samples. DESIGN: Discussion paper. DATA SOURCES: PubMed 2009-2013, list of references in retrieved articles, Google Scholar. IMPLICATIONS FOR NURSING: Nurses need a general understanding of the scope of potential genomic information that may be revealed with whole exome sequencing to provide support and guidance to individuals and families during their decision-making process, while waiting for results and after disclosure. Nurse scientists who want to use whole exome sequencing in their study design and methods must decide early in study development if they will return primary whole exome sequencing research results and if they will give research participants choices about learning incidental research results. CONCLUSION: It is critical that nurses translate their knowledge about whole exome sequencing into their patient education and patient advocacy roles and relevant programmes of research.

Standardized reporting of amnion and amnion/chorion allograft data for wound care.

Background: The favorable biological and mechanical properties of the most common components of the placenta, the amnion and chorion, have been explored for regenerative medical indications. The use of the combination of amnion and chorion has also become very popular. But, published data from placental tissues in their final, useable form is lacking. During treatment with membrane product, the tissue is usually sterile, intact and laid on a wound or treatment area. The factors available to the treatment area from the applied product need to be elucidated and presented in a relatable form. Current reporting for eluted growth factor results are typically expressed per milliliter, which is not informative with respect to the area of tissue covered by the actual membrane and may differ among techniques. Methods: To address this inconsistency, amnion or amnion/chorion were isolated from human placentas and processed by a proprietary procedure. The final dry, sterilized product was evaluated for structural components and growth factor elution. Growth factors were quantified by multiplex panels and ELISAs and the values normalized to specific area and elution volume of finished product. This information allows extrapolation to all membrane sizes and affords cross-study comparisons. Results: Analysis of membrane supernatants show that dehydrated, sterilized amnion and amnion/chorion elute factors that are conducive to wound healing, which are available to recipient tissues. Importantly, these measurable factors eluted from dehydrated, sterilized membranes can be reported as a function of available factors per square centimeter of tissue. Conclusions: The standardized characterization of dehydrated, sterilized amnion and amnion/chorion as delivered to recipient tissues permits understanding and comparison of the products across various graft sizes, types, and eluate volumes. Further, reporting this data as a function of cm2 of dehydrated tissue allows extrapolation by independent scientists and clinicians.

COVID-19 pandemic and the consequential effect on patients with endometriosis.

STUDY QUESTION: What was the effect of the coronavirus disease 2019 (COVID-19) pandemic on healthcare and quality of life in those suffering from endometriosis? SUMMARY ANSWER: Our study reveals a clear correlation between the deterioration of the reported physical and mental state and impaired medical care for patients suffering from endometriosis during the COVID-19 pandemic. WHAT IS KNOWN ALREADY: The quality of life of patients suffering from endometriosis is compromised in a variety of aspects. In response to the ongoing COVID-19 pandemic, self-isolation practices aimed at curbing the spread of COVID-19 have severely complicated the availability of proper medical care worldwide. STUDY DESIGN SIZE DURATION: The study involved a cross-sectional international self-reported online survey. Responses were accepted between November 2020 and January 2021. The survey was prepared by the Department of Obstetrics and Gynaecology in a medical university setting. The survey contained 17 questions and was placed online. Cooperation with different endometriosis organizations around the world enabled distribution of the survey through their social media platforms. PARTICIPANTS/MATERIALS SETTING METHODS: The study participants (n = 3024 replies) originated from 59 countries. The questionnaire was created after a literature review and is partially based on the validated quality of life questionnaires, adjusted to the study question. The survey was then translated to 15 other languages following World Health Organization recommendations as closely as possible. Chi-square tests for independence were carried out for the analysis of the two variables: suspension of health services, and the patients mental and physical well-being. MAIN RESULTS AND THE ROLE OF CHANCE: Out of 3024 participants from 59 countries who submitted the questionnaire between November 2020 and January 2021, 2964 (98.01%) provided information that enabled a full analysis. For the 1174 participants who had their medical appointments cancelled, 43.7% (n = 513) reported that their symptoms had been aggravated, and 49.3% (n = 579) reported that their mental state had worsened.In comparison, of the 1180 participants who kept their appointments, only 29.4% (n = 347) stated that their symptoms had been aggravated, and 27.5% (n = 325) stated their mental health had worsened. The results showed that there was a significant link between the reported deterioration of mental and physical wellbeing and impaired medical care (cancellation) (P ≪ 0.001). A total of 610 participants did not have medical appointments scheduled, and these participants followed a similar pattern as the participants who kept their appointments, with 29.0% (n = 177) reporting aggravation of symptoms and 28.2% (n = 172) reporting that their mental state had worsened. LIMITATIONS REASONS FOR CAUTION: Cultural differences among international participants are to be expected and this may have affected how participants from different countries interpreted and answered the questionnaire. Translating the questionnaire into 15 different languages, even though incorporating backwards translation, could possibly lead to different interpretations of given questions, simply based on different wording in the languages. The majority of respondents (around 90%) were from Europe and South America and therefore the findings may not be generalizable to other locations. WIDER IMPLICATIONS OF THE FINDINGS: Further research is needed to assess the true impact and long-term consequences of the COVID-19 pandemic for patients living with endometriosis. STUDY FUNDING/COMPETING INTERESTS: This study received no funding and the authors declare they have no relevant conflicts of interest. TRIAL REGISTRATION NUMBER: N/A.

Spatial compression produced by a stationary low-vision telescope.

PURPOSE: Geometrical analysis of the monocular information for visual space perception predicts that the magnification produced by a low-vision telescope will compress the depth dimension of space. To test this prediction we measured the compression in depth of perceived shape while looking through a stationary telescope. To control for the other aspects of telescopic viewing, apart from magnification, we also measured perception while looking through a plain tube having the same field of view. METHODS: A 2.75x Keplarian telescope was mounted 40 cm above a tabletop patterned with receding stripes. The 11.6 degrees field of view was centered on a series of rectangular stimulus cards lying flat on the table at a distance of 100 cm. Participants monocularly viewed each card through the telescope, or through a tube having the same field of view, and verbally judged the card's perceived length (in depth) relative to its width (in the frontal plane). RESULTS: Perceptual compression of shape was calculated by dividing the perceived proportion (length/width) by the actual proportion. The telescope and the tube both produced significant perceptual compression, but perception was significantly more compressed through the telescope (0.43) than through the tube (0.52). CONCLUSIONS: The magnification produced by a stationary low-vision telescope can result in a compression of perceived depth. In addition, other aspects of telescopic viewing, such as monocular vision, restricted head movements, and a restricted field of view, can together contribute substantially to such compression. Further research is needed to assess the clinical implications of these results.

Electromyographic evaluation of a bed assistive device for abdominal surgery patients in postoperative care.

OBJECTIVE: Muscle activity with and without the use of commercially available patient assistive devices during bed rising and lowering was quantified. BACKGROUND: Limited research is available in understanding or evaluating the physical benefits of assistive devices for patient use following major abdominal surgery. METHODS: Twenty healthy participants (9 men, 11 women) took part in a laboratory study to test the effects of device configuration (five levels) and bed elevation angle (0 degree and 30 degrees) on mean and peak upper and lower rectus abdominis and external oblique concentric and eccentric muscle activity. RESULTS: Reduced muscle activity was associated with the use of an assistive device, as compared with manual bed rising (unassisted). Positioning the devices at a higher anchor height and/or increasing the bed elevation angle further reduced muscle activity. Objective and subjective differences between the two assistive devices evaluated in the study were found. CONCLUSION: These results suggest that self-assistive devices may speed recovery because of reduced loads on damaged tissues. APPLICATION: Potential applications of this research include the assessment of other commercially available lift aids or comparisons of self-assistive lift aids with hospital-housed lift aids used to speed recovery rates.

Efficacy of an assistive intervention for abdominal surgery patients in postoperative care.

PURPOSE: The objective of this study was to assess efficacy of a bed-assistive device during at-home recovery through self-reports of self-perceived recovery status and oral pain medication usage. METHODS: A case-control design was used to determine differences in self-perceived recovery measures and pain medication according to surgical procedure, device/no device, and age strata. Fifteen female patients undergoing abdominal hysterectomy (n = 6) or Cesarean-section (n = 9) procedures were recruited. Stratified sampling techniques were used to assign patients to the control (n = 8; age, 34.0 [6.3] years) and devices groups (n = 7; 40.7 [12.4] years). Both groups completed 12 questionnaires on perceived recovery status, activities of daily living, and pain medication usage over a five-week recovery period. Device group patients received training on device usage prior to surgery. Repeated measures ANOVA were used to analyse data and compare data across experimental groups. RESULTS: In general, device users reported higher levels of energy, less pain interference, lower perceived pain, less reliance on pain medication and returned to activities of daily living faster than the control group. CONCLUSION: Self-assistive device usage provides significant subjective and objective improvements during at-home recovery and promotes patient independence.