Publications by authors named "Grace Tran"

7 Publications

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

Cancer 2021 Oct 22;127(19):3605-3613. Epub 2021 Jun 22.

Department of Behavioral Science, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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.
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October 2021

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% of unrelated NF1 individuals. About 25% (95% confidence interval: 20.5-31.2%) of individuals heterozygous for a pathogenic NF1 p.Met1149, p.Arg1276, or p.Lys1423 missense variant had a Noonan-like phenotype, which is significantly more compared with the "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and p.Lys1423 pathogenic missense variants were associated with a high prevalence of cardiovascular abnormalities, including pulmonic stenosis (all p < .0001), while p.Arg1276 variants had a high prevalence of symptomatic spinal neurofibromas (p < .0001) compared with "classic" NF1-affected cohorts. However, p.Met1149-positive individuals had a mild phenotype, characterized mainly by pigmentary manifestations without externally visible plexiform neurofibromas, symptomatic spinal neurofibromas or symptomatic optic pathway gliomas. As up to 0.4% of unrelated individuals in the UAB cohort carries a p.Met1149 missense variant, this finding will contribute to more accurate stratification of a significant number of NF1 individuals. Although clinically relevant genotype-phenotype correlations are rare in NF1, each affecting only a small percentage of individuals, together they impact counseling and management of a significant number of the NF1 population.
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January 2020

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

J Adv Nurs 2014 Dec 1;70(12):2736-45. Epub 2014 Sep 1.

Division of Human Genetics, Department of Pediatrics, Department of Patient Services, Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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.
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December 2014

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

Hum Factors 2008 Apr;50(2):237-55

Ergonomics and Human Factors Department, Mayo Clinic, Rochester, Minnesota, USA.

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.
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April 2008

Spatial compression produced by a stationary low-vision telescope.

Optom Vis Sci 2008 Jan;85(1):54-62

Illinois College of Optometry, Chicago, Illinois, USA.

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.
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January 2008

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

Disabil Rehabil Assist Technol 2006 Jun;1(3):191-7

Grado Department of Industrial and Systems Engineering, Virginia Tech, Blacksburg, Virginia 24061, USA.

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.
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June 2006