MR perfusion has shown value in the evaluation of posttreatment high-grade gliomas, but few studies have shown its impact on the consistency and confidence of neuroradiologists' interpretation in ...routine clinical practice. We evaluated the impact of adding MR perfusion metrics to conventional contrast-enhanced MR imaging in posttreatment high-grade glioma surveillance imaging.
This retrospective study included 45 adults with high-grade gliomas who had posttreatment perfusion MR imaging. Four neuroradiologists assigned Brain Tumor Reporting and Data System scores for each examination on the basis of the interpretation of contrast-enhanced MR imaging and then after the addition of arterial spin-labeling-CBF, DSC-relative CBV, and DSC-fractional tumor burden. Interrater agreement and rater agreement with a multidisciplinary consensus group were assessed with κ statistics. Raters used a 5-point Likert scale to report confidence scores. The frequency of clinically meaningful score changes resulting from the addition of each perfusion metric was determined.
Interrater agreement was moderate for contrast-enhanced MR imaging alone (κ = 0.63) and higher with perfusion metrics (arterial spin-labeling-CBF, κ = 0.67; DSC-relative CBV, κ = 0.66; DSC-fractional tumor burden, κ = 0.70). Agreement between raters and consensus was highest with DSC-fractional tumor burden (κ = 0.66-0.80). Confidence scores were highest with DSC-fractional tumor burden. Across all raters, the addition of perfusion resulted in clinically meaningful interpretation changes in 2%-20% of patients compared with contrast-enhanced MR imaging alone.
Adding perfusion to contrast-enhanced MR imaging improved interrater agreement, rater agreement with consensus, and rater confidence in the interpretation of posttreatment high-grade glioma MR imaging, with the highest agreement and confidence scores seen with DSC-fractional tumor burden. Perfusion MR imaging also resulted in interpretation changes that could change therapeutic management in up to 20% of patients.
A standard lumbar puncture may be impossible for many anatomic or technical reasons. Previous accounts of caudal epidural anesthesia and other procedures via the sacral hiatus prompted us to test if ...image‐guided percutaneous trans‐sacral hiatus access to the lumbosacral subarachnoid cistern would be anatomically feasible. To study vertebral canal morphometry and curvature, we analyzed midsagittal computed tomography‐myelogram images of 40 normal subjects and digitally measured sacral curvatures between S1 to S5 and S2 to S4 using two methods whereby a lower angle signifies a straighter sacrum. We measured midsagittal vertebral canal area, hiatus width, dural sac termination levels, and distance from sacral hiatus to the dural sac tip (needle distance). Subjects were F:M = 25:15, with a mean age of 44.9 years. The two S1–S5 full sacral curvature mean angles were 57.3° and 60.4°. Almost all sacral hiatuses were at S4, and dural sac terminations were at S1–S2. The mean S2–S4 sacral curvature was 25.1°, and the mean needle distance was 57.7 mm. Using two‐way analysis of variance, there were significant sex differences for needle distances (p = .001), and full and limited sacral curvatures (p = .02, and p = .046, respectively). There were no significant linear regression correlations between age and sacral curvature, needle distance, canal area, or hiatus width. Therefore, despite a frequently prominent full sacral curvature, the combination of S1–S2 dural sac termination plus a relatively straight trajectory of the lower vertebral canal between S2 and S4 support the theoretical feasibility of percutaneous trans‐sacral hiatus and vertebral canal access to the lumbosacral cistern using a standard spinal needle.
Non-invasive prenatal screening provides a risk assessment for aneuploidies by utilizing cell-free DNA (cfDNA). It is recommended that cell-free DNA screening (cfDNA screening) be offered to all ...pregnant people regardless of a priori risk for aneuploidy. In the absence of an increased risk, alternative motives for electing cfDNA screening and different levels of informed decision making may arise. Therefore, our study aimed to characterize low-risk patients' motivations for cfDNA screening election, determine how often informed decisions are being made, and compare motivations between informed and uninformed decision makers. A survey that included a modified, validated measure of informed choice (MMIC) and questions to assess patients' motivations for cfDNA screening was offered at four MFM clinics following genetic counseling. It was found that 44% of participants (n = 100) made an uninformed decision about testing. Participants with private insurers were 4.25 times more likely to make an informed decision (95% CI = 1.10-16.37). Informed decision makers scored avoiding invasive procedures higher (p = 0.007) and ranked doing what family/friends desire lower (p = 0.005) than uninformed decision makers. While most participants scored receiving information about genetic conditions highest, 12% of participants reported fetal sex disclosure as a priority. However, this was not found to be associated with uninformed decision making. This study ultimately established that following genetic counseling, a low-risk population shared motivations with high-risk populations which highlights the importance of complete pre-test counseling for all. Future research should investigate the effect of modifying variables, such as socioeconomic status, on the performance of informed choice measures and critically evaluate the parameters that determine informed choice.
Genetic counselors have a unique role in healthcare that requires a balance between being a patient educator and patient advocate when discussing disability. This study aimed to determine genetic ...counselors’ implicit attitudes toward disability, and identify what factors affect these implicit attitudes. Case scenarios involving disability were used to examine hypothetical estimates of time spent on different topics within a genetic counseling session. Implicit attitudes were measured using the validated Disability Attitudes Implicit Association Test (DA‐IAT), and personal/professional experiences with disability were assessed. Analysis of 382 respondents of the electronic survey revealed that personal experience with individuals with disabilities was not significantly associated with implicit attitudes scores. In addition, results demonstrated that genetic counselors have a stronger bias toward ability (Dmean = 0.62, Dstd = ±0.45) compared to previous participants of the DA‐IAT (p < .005). Practice specialty, length of time in the genetic counseling field, or whether the participant was a practicing counselor or genetic counseling student were not associated with implicit attitudes scores. The bias toward ability observed across practice specialties may be due to shared factors that influence interest in this field, but may also potentially reflect the inability of the DA‐IAT to capture the complexity of genetic counselors’ relationship to individuals with disability. This study emphasizes the importance of incorporating patients’ individual definitions of disability into genetic counseling sessions and building an environment of patient advocacy and education around their personal perspectives and needs.
With the rapidly evolving field of prenatal testing, there is a growing need to provide support for women pursuing termination of pregnancy following the discovery of a fetal anomaly. Previous ...studies have documented that women in this situation often feel unsupported, but the type of resources desired by this population remains undetermined. We studied the awareness and utilization of support resources in 51 women at the time of the procedure, at 6 weeks, and at 3 months following the event. Though largely knowledgeable of existing resources at the time of the procedure, only 50 % admitted contemplating their individualized need for support. Most expected to rely on the support of family and friends. Additionally, 50 % expressed the desire to commemorate the pregnancy, though none wanted direct contact with their healthcare provider(s). Responses from the 6 weeks and 3 months assessments were consistent with previous literature as many women indicated not coping as expected and were unprepared for the psychological consequences following the procedure. Our findings indicate that women in these situations may not realize what their long-term support needs will be. They further indicate that guidelines for routine follow-up care should be established among healthcare providers that respect this population’s initial desires to avoid reminders of the pregnancy and promote a flexible timeframe for support uptake. Additional support resources that promote flexible uptake as well as meet the desires of anonymity and ease of access need to be developed for this population.
An electronic search of the literature was performed for reported cases of ototoxicity associated with the use of topical antibiotic ear drops in humans. The dosage, duration, and type of ototoxic ...preparations involved were recorded. Due to the scant quantity of low-quality information that is currently available, there was uncertainty about the usefulness of topical antibiotics in enhancing the resolution of ear discharge in patients with chronic suppurative otitis media. However, despite this uncertainty, there are some data to show that using topical antibiotics in comparison to a placebo or in conjunction with a systemic antibiotic may be useful. Additionally, there is ambiguity regarding the relative efficacy of various kinds of antibiotics; it is impossible to say with absolute certainty whether quinolones are superior to or inferior to aminoglycosides. Although the adverse impact profiles of these two classes of chemicals varied, there are not enough data from the included trials to draw any conclusions about them. Negative effects were generally underreported.
Despite an aggressive therapeutic approach, the prognosis for most patients with glioblastoma (GBM) remains poor. The aim of this study was to determine the significance of preoperative MRI ...variables, both quantitative and qualitative, with regard to overall and progression-free survival in GBM.
We retrospectively identified 94 untreated GBM patients from the Cancer Imaging Archive who had pretreatment MRI and corresponding patient outcomes and clinical information in The Cancer Genome Atlas. Qualitative imaging assessments were based on the Visually Accessible Rembrandt Images feature-set criteria. Volumetric parameters were obtained of the specific tumor components: contrast enhancement, necrosis, and edema/invasion. Cox regression was used to assess prognostic and survival significance of each image.
Univariable Cox regression analysis demonstrated 10 imaging features and 2 clinical variables to be significantly associated with overall survival. Multivariable Cox regression analysis showed that tumor-enhancing volume (P = .03) and eloquent brain involvement (P < .001) were independent prognostic indicators of overall survival. In the multivariable Cox analysis of the volumetric features, the edema/invasion volume of more than 85 000 mm(3) and the proportion of enhancing tumor were significantly correlated with higher mortality (Ps = .004 and .003, respectively).
Preoperative MRI parameters have a significant prognostic role in predicting survival in patients with GBM, thus making them useful for patient stratification and endpoint biomarkers in clinical trials.
Pregnancy termination for fetal anomaly (TFA) is a unique experience that can cause women to develop long‐term complicated grief. Although a woman's experience with her healthcare providers has been ...previously identified as an important factor in coping, studies have shown that many women report their health care as lacking to some extent. Given the overlap in women's needs and the practice scope of a genetic counselor (GC), this study aimed to examine how genetic counseling may impact coping and explore women's expectations of GCs pre‐ and post‐TFA. An online survey, which included the brief COPE and the short version of the Perinatal Grief Scale, was distributed among private online support groups. Appropriate statistical analysis tools, such as the Wilcoxon rank‐sum and t test, were utilized for quantitative analysis of the 124 responses, and inductive content analysis was utilized for qualitative analysis. Of those who underwent TFA within the last two years, women who saw a GC utilized active coping, planning, and positive reframing significantly more than women who did not see a GC (p = 0.001, p = 0.031, p = 0.027, respectively). GCs were perceived to have a positive impact on coping when providing information, objective care, emotional support, support resources, and follow‐up care; these practices encouraged confidence in their personal decision‐making and gave women hope for the future. This study not only identified key counseling roles for GCs prior to a TFA, but also demonstrated that genetic counseling prior to TFA may be beneficial to coping. Further studies are warranted to explore the needs of a more diverse population and to identify appropriate genetic counseling training methods to support women pursuing TFA.
Objective
To determine the yield of prenatal testing and screening options after identification of fetal structural abnormalities using a novel mathematical model.
Method
A retrospective chart review ...was conducted to collect structural abnormality and genetic testing data on infants who were evaluated postnatally by a medical geneticist. A novel mathematical model was used to determine and compare the predicted diagnostic yields of prenatal testing and screening options.
Results
Over a quarter of patients with at least one structural abnormality (28.1%, n = 222) had a genetic aberration identified that explained their phenotype. Chromosomal microarray (CMA) had the highest predicted diagnostic yield (26.8%, P < .001). Karyotype (20.8%) had similar yields as genome wide NIPT (21.2%, P = .859) and NIPT with select copy number variants (CNVs) (17.9%, P = .184). Among individuals with an isolated structural abnormality, whole exome sequencing (25.9%) and CMA (14.9%) had the highest predicted yields.
Conclusion
This study introduces a novel mathematical model for predicting the potential yield of prenatal testing and screening options. This study provides further evidence that CMA has the highest predicted diagnostic yield in cases with structural abnormalities. Screening with expanded NIPT options shows potential for patients who decline invasive testing, but only in the setting of adequate pre‐test counseling.
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