Experiences and attitudes of hereditary cancer screening patients in a consumer directed testing model.

BACKGROUND: Since 2015, the Information is Power initiative has offered free and reduced cost hereditary cancer screening to the North Alabama population with a consumer-initiated model. Patients received pre-test and post-test education through a genetic counseling video. Positive results also received a call from a genetic counselor. OBJECTIVE: We surveyed past Information is Power patients to assess if video education and electronic result delivery addressed the needs of a hereditary cancer screening population. METHODS: An electronic survey was sent out to Information is Power patients who opted into research contact. The survey assessed participant knowledge, satisfaction with result delivery, and perceived uncertainty after receiving test results. RESULTS: 213 participants completed the survey. Eighteen percent of participants would have preferred individual communication with a genetics specialist about their results. Over 99 % of survey participants correctly interpreted a positive result, while 73 % correctly interpreted a negative result. Overall, participants were certain about the impact of their genetic test results. PRACTICE IMPLICATIONS: These findings support a model of population genetic testing and genetic counseling that is sustainable while meeting the educational needs of most participants. Observed misconceptions surrounding a negative result should be highlighted in future population screening patient resources to meet patient needs.

Understanding the brain-behaviour relationship in persons with ASD: implications for PECS as a treatment choice.

INTRODUCTION: This article presents emerging neurological findings in Autism Spectrum Disorders (ASD) with particular attention to how this information might inform treatment practices addressing communication impairments. METHODS: The article begins with a general discussion of the brain-behaviour relationship and moves to the presentation of recent research findings related to ASD. There is particular attention to individuals with autism who are either non-verbal or present emergent verbal abilities. RESULTS/DISCUSSION: A specific communication treatment, the Picture Exchange Communication System (PECS), is presented as an example of an intervention that addresses the learner needs of many individuals with ASD. The success of PECS is discussed within the context of its fit with brain-based learner characteristics.

Speech perception in MRI scanner noise by persons with aphasia.

PURPOSE: To examine reductions in performance on auditory tasks by aphasic and neurologically intact individuals as a result of concomitant magnetic resonance imaging (MRI) scanner noise. METHOD: Four tasks together forming a continuum of linguistic complexity were developed. They included complex-tone pitch discrimination, same-different discrimination of minimal pair syllables, lexical decision, and sentence plausibility. Each task was performed by persons with aphasia (PWA) and by controls. The stimuli were presented in silence and also in the noise recorded from within the bore of a 3 Tesla MRI scanner at 3 signal-to-noise (S/N) ratios. RESULTS: Across the 4 tasks, the PWA scored lower than the controls, and performance fell as a function of decreased S/N. However, the rate at which performance fell was not different across the 2 listener groups in any task. CONCLUSIONS: Depending on the relative levels of the signals and noise, the intense noise accompanying MRI scanning has the potential to severely disrupt performance. However, PWA are no more susceptible to the disruptive influence of this noise than are unimpaired individuals usually employed as controls. Thus, functional MRI data from aphasic and control individuals may be interpreted without complications associated with large interactions between scanner noise and performance reduction.

Neural correlates of phonological and semantic-based anomia treatment in aphasia.

Most naming treatments in aphasia either assume a phonological or semantic emphasis or a combination thereof. However, it is unclear whether semantic or phonological treatments recruit the same or different cortical areas in chronic aphasia. Employing three persons with aphasia, two of whom were non-fluent, the present study compared changes in neural recruitment associated with phonologic and semantic-based naming treatments. The participants with non-fluent aphasia were able to name more items following both treatment approaches. Although this was not the case for the participant who had fluent aphasia, her naming errors decreased considerably following treatment. Post-treatment fMRI revealed similar changes in neural activity bilaterally in the precuneus among the two non-fluent participants--increased activity was noted in the right entorhinal cortex and posterior thalamus on post-treatment scans for the third participant. These findings imply that cortical areas not traditionally related to language processing may support anomia recovery in some patients with chronic aphasia.

Analysis of a single-center experience with mycophenolate mofetil based immunosuppression in renal transplantation.

PURPOSE: Acute rejection continues to be a major clinical issue in renal transplantation. Three large multicenter trials have demonstrated a 50% decline in biopsy-proven rejection when mycophenolate mofetil (MMF) was given to renal transplant recipients with corticosteroids and cyclosporine. The purpose of this study was to compare the 6-month outcome of renal transplant recipients using MMF and non-MMF based immunosuppression protocols over a 4-year period at a single center. METHODS: This retrospective study analyzed three patient groups defined by their immunosuppression protocol. The first group included patients who received a quadruple immunosuppression regimen of anti-lymphocyte induction (ATG), cyclosporine (CYA), azathioprine (AZA), and corticosteroids (CCS), and were transplanted between October 1993 and May 1995 (AZA group). The second group included patients who received a triple immunosuppression regimen of CYA, MMF, and CCS, and were transplanted between June 1995 and May 1996 (MMF group). The third group included patients who were transplanted between January 1997 and December 1997, and received an immunosuppression regimen of CYA and MMF with a reduced CCS dosing schema (reduced steroid group (RST)). Data were collected from a retrospective review of inpatient and outpatient clinical records. RESULTS: A total of 325 patients were included in the study (106 AZA, 106 MMF, 113 RST). The demographic characteristics of the three groups were similar; however, the mean donor age for the AZA group was 40+/-15.1 years versus 33+/-14.1 years and 34+/-13.1 years for the MMF and RST groups, respectively (p<0.043). The incidence of acute, biopsy-proven rejection at 6 months was significantly less in the MMF group when compared with the AZA group [16 (15.1%) versus 35 (33%) patients, p = 0.002]. However, the incidence of acute, biopsy-proven rejection in the RST group (35 patients, 31%) was similar to that of the AZA group. Kaplan-Meier estimates for the cumulative incidence of acute rejection demonstrated a significant difference between the MMF group and the other two groups (p = 0.0059). The AZA group had more severe rejection as demonstrated by the more frequent use of antilymphocyte therapy for rejection treatment (68.4% episodes) compared with the MMF (38.9%) and RST (47.6%) groups. After 6 months of follow-up, 11 patients had lost their grafts (8, AZA; 1, MMF; 2, RST). One patient died in each of the AZA and RST groups due to hemorrhage and a pulmonary embolus, respectively. Four AZA patients were diagnosed with a malignancy (three post-transplant lymphoproliferative disorder, one squamous skin cell carcinoma) compared with 2 MMF patients (prostate cancer, basal skin cell carcinoma) and no RST patients. Herpes zoster was the only infection that occurred more frequently in the MMF group (p = 0.03). No other differences in infection rates were noted among the three groups. The initial length of hospital stay declined significantly over the 4-year study period [11+/-4.3 d (AZA), 7.0+/-4.0 d (MMF), 6.2+/-3.3 d (RST), p<0.001]. Total number of hospital days for the first 6 months also followed a similar declining pattern. Despite using intravenous cyclosporine immediately post-transplant in the MMF and RST groups, the incidence of delayed graft function was similar among the three groups. Average serum creatinine at 1 month was significantly lower in the MMF group (p = 0.008), but no difference was noted at 3 and 6 months when compared with the AZA and RST groups. CONCLUSION: This retrospective analysis indicates that MMF is an effective immunosuppressant. Decreased length of stay and less steroid resistant rejections with MMF is favorable for decreased hospital costs. However, the rebound in rejection rate with the RST group suggests that further study is needed to define the optimal use of this agent in combination with others to maximize effectiveness and minimize negative side effects.