The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants.

The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is an emerging field of healthcare in many countries. Each year, at least 7% of applicants to U.S.-based GC graduate programs come from countries outside the U.S. ("international GC applicants''). To address the unique needs of international GC applicants, volunteers from the International Special Interest Group (ISIG) of the National Society of Genetic Counselors (NSGC) launched a semi-structured mentorship program (the "International Genetic Counseling Mentorship Program'' (IGCMP)) in 2021, which provides individualized mentorship and optional group activities for networking and learning. Fifty-two people from 19 countries signed up for the IGCMP across three application cycles. Of these, 47 were eligible to participate as mentees, and most were interested in one-on-one virtual meetings with international GCs in the U.S. (n = 41/47, 87.2%). An assessment form was sent to 17 mentees who applied to GC graduate school after participating in the first or second cycle of the IGCMP. Of the 12 responses received, 10 (83.3%) reported being extremely satisfied with their individual mentor(s), and the one-on-one meeting with a mentor was considered helpful to both the application and interview process by nine (75.0%) respondents. Importantly, feedback about program improvement revealed an interest in connecting with additional international applicants and mentors and all respondents expressed interest in receiving mentorship throughout graduate school. Future directions include collaborating with other mentorship and graduate programs to further enhance support for international applicants.

Muscle activity and hypoalgesia in blood flow restricted versus unrestricted effort-matched resistance exercise in healthy adults.

This study assessed muscle activity (root mean square, RMS, and median frequency, MDF) to evaluate the acute response to blood flow restriction (BFR) resistance exercise (RE) and conventional moderate intensity (MI) RE. We also performed exploratory analyses of differences based on sex and exercise-induced hypoalgesia (EIH). Fourteen asymptomatic individuals performed four sets of unilateral leg press with their dominant leg to volitional fatigue under two exercise conditions: BFR RE and MI RE. Dominant side rectus femoris (RF) and vastus lateralis (VL) muscle activity were measured using surface electromyography (sEMG) through exercise. RMS and MDF were calculated and compared between conditions and timepoints using a linear mixed model. Pressure pain thresholds (PPT) were tested before and immediately after exercise and used to quantify EIH. Participants were then divided into EIH responders and nonresponders, and the differences on RMS and MDF were compared between the two groups using Hedges' g. RMS significantly increased over time (RF: p = 0.0039; VL: p = 0.001) but not between conditions (RF: p = 0.4; VL: p = 0.67). MDF decreased over time (RF: p = 0.042; VL: p < 0.001) but not between conditions (RF: p = 0.74; VL: p = 0.77). Consistently lower muscle activation was found in females compared with males (BRF, RF: g = 0.63; VL, g = 0.5. MI, RF: g = 0.72; VL: g = 1.56), with more heterogeneous findings in MDF changes. For BFR, EIH responders showed greater RMS changes (Δ RMS) (RF: g = 0.90; VL: g = 1.21) but similar MDF changes (Δ MDF) (RF: g = 0.45; VL: g = 0.28) compared to nonresponders. For MI, EIH responders demonstrated greater increase on Δ RMS (g = 0.61) and decrease on Δ MDF (g = 0.68) in RF but similar changes in VL (Δ RMS: g = 0.40; Δ MDF: g = 0.39). These results indicate that when exercising to fatigue, no statistically significant difference was observed between BFR RE and conventional MI RE in Δ RMS and Δ MDF. Lower muscle activity was noticed in females. While exercising to volitional fatigue, muscle activity may contribute to EIH.

Host perspectives on international fieldwork placements for U.S.-based genetic counseling students.

Genetic counseling students from the United States are often interested in international summer fieldwork placements, but little is known about the hosts' perspectives when considering such requests. We sent out surveys to 132 international genetics providers (genetics clinics and genetics programs), to identify advantages, barriers and expectations for U.S.-based genetic counseling students seeking a fieldwork placement. Twenty-seven (20.4% response rate) participants from 14 different countries shared their experiences and views. Providers placed higher emphasis on teaching and benefits to students (95.2%) rather than intrinsic benefits to their programs (90.4%). Lack of American Board of Genetic Counseling's (ABGC) reciprocal recognition (30%) and cost of training (25%), were rated as the strongest barriers to hosting U.S.-based students. Surprisingly, 'Language Barrier' (20%), although mentioned in open-ended comments, was not ranked highly as a barrier. When asked about expectations of students, active participation in student-led counseling sessions under supervision was encouraged by a majority of participants (55.6%). Where most genetic counseling literature is U.S.-centric, this study reports on insights gathered from international genetics providers. Our study encourages U.S.-based programs to consider these findings when designing exchange programs and international fieldwork placements.

Hypoalgesia and Conditioned Pain Modulation in Blood Flow Restriction Resistance Exercise.

We compared the magnitude of exercise-induced hypoalgesia and conditioned pain modulation between blood-flow restriction (BFR) resistance exercise (RE) and moderate-intensity RE. Twenty-five asymptomatic participants performed unilateral leg press in two visits. For moderate-intensity RE, subjects exercised at 50% 1RM without BFR, whereas BFR RE exercised at 30% 1RM with a cuff inflated to 60% limb occlusion pressure. Exercise-induced hypoalgesia was quantified by pressure pain threshold changes before and after RE. Conditioned pain modulation was tested using cold water as the conditioning stimulus and mechanical pressure as the test stimulus and quantified as pressure pain threshold change. Difference in conditioned pain modulation pre- to post-RE was then calculated. The differences of RE on pain modulations were compared using paired t-tests. Pearson's r was used to examine the correlation between exercise-induced hypoalgesia and changes in conditioned pain modulation. We found greater hypoalgesia with BFR RE compared to moderate-intensity RE (p=0.008). Significant moderate correlations were found between exercise-induced hypoalgesia and changes in conditioned pain modulation (BFR: r=0.63, moderate-intensity: r=0.72). BFR RE has favorable effects on pain modulation in healthy adults and the magnitude of exercise-induced hypoalgesia is positively correlated with conditioned pain modulation activation.

International students' perspectives on the genetic counseling application process.

Between 2018 and 2023, one percent of matched applicants to North American genetic counseling graduate programs (GCGPs) have been international applicants (IAs). The COVID-19 pandemic led to changes in the GCGP application processes in 2020, most notably the incorporation of virtual interviews and GRE waivers, which uniquely impacted IAs. Twelve international genetic counseling (GC) students who matriculated into a U.S.-based GCGP in 2021 or 2022 participated in this qualitative study (42% of the total enrolled) to understand their application experience. Cost, location of the program, and rapport during interviews were the most important factors identified by IAs to apply to and rank the GCGPs. Shadowing and volunteer experiences relevant to GC were cited as important for applicants to learn about a genetic counseling career, but many had challenges finding opportunities in their home countries. Unique logistical challenges in taking the GRE, transcript evaluation services, and standardized English proficiency tests were described. Although virtual interviews offered the same experience as domestic applicants, the time difference was a major challenge, requiring IAs to interview through the night, creating additional stressors. Nine of 12 were re-applicants and shared that engaging with GCGPs early in the process was beneficial for improving applications and, at times, requesting waivers for transcript evaluation requirements and considering unique volunteering experiences. Participants suggested GCGPs can address barriers by providing more specific information on their websites as it pertains to IAs, and contact information for the international student office. Improving awareness of the applicants' backgrounds, home country experiences, and time zone differences would provide IAs with a more equitable application experience. Addressing these barriers could help promote diversity, equity, and inclusion allowing for more IAs and the growth of the genetic counseling profession.

Building Efficiency and Scaling With a Remote Genetic Counseling Program.

Purpose A third-party telemedicine (TM) genetic counseling program was initiated at a large community oncology practice spanning 35 clinical sites with 110 clinicians and 97 advanced practice providers throughout Tennessee and Georgia. Patients and Methods Appropriate patients were referred through the electronic health record (EHR) based on current National Comprehensive Cancer Network guidelines. A combination of TM and genetic counseling assistants enhanced convenience, broadened access, and decreased no-show rates. Physician education for mutation-positive screening recommendations was provided through deep integration of dedicated genetic counseling notes in the EHR. Results From 2019 to 2022, the program expanded from 1 to 20 clinics with referrals growing from 195 to 885. An average of 82% of patients completed genetic counseling consultations over TM with more than 70% completing genetic testing. The average was 4 to 6 days from referral to consultation. The no-show rate was maintained at less than 7%. In 2023, this model supported all 35 clinics across the state. Conclusion Our program illustrates how remote genetic counseling programs are an effective choice for scaling genetics care across a large community oncology practice. Deep integration of TM genetic counseling within the EHR helps identify patients who are high risk and improves test adoption, patient keep rate, and turnaround time, helping to achieve better patient outcomes.

Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling.

PURPOSE: Genetic counseling (GC) is standard of care in genetic cancer risk assessment (GCRA). A rigorous assessment of the data reported from published studies is crucial to ensure the evidence-based implementation of GC. METHODS: We conducted a systematic review and meta-analysis of 17 patient-reported and health-services-related outcomes associated with pre- and post-test GC in GCRA in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology. RESULTS: Twenty-five of 5393 screened articles met inclusion criteria. No articles reporting post-test GC outcomes met inclusion criteria. For patient-reported outcomes, pre-test GC significantly decreased worry, increased knowledge, and decreased perceived risk but did not significantly affect patient anxiety, depression, decisional conflict, satisfaction, or intent to pursue genetic testing. For health-services outcomes, pre-test GC increased correct genetic test ordering, reduced inappropriate services, increased spousal support for genetic testing, and expedited care delivery but did not consistently improve cancer prevention behaviors nor lead to accurate risk assessment. The GRADE certainty in the evidence was very low or low. No included studies elucidated GC effect on mortality, cascade testing, cost-effectiveness, care coordination, shared decision making, or patient time burden. CONCLUSION: The true impact of GC on relevant outcomes is not known low quality or absent evidence. Although a meta-analysis found that pre-test GC had beneficial effects on knowledge, worry, and risk perception, the certainty of this evidence was low according to GRADE methodology. Further studies are needed to support the evidence-based application of GC in GCRA.

Racial Differences in Movement-Related Appraisals and Pain Behaviors Among Adults With Chronic Low Back Pain.

Research documents racial disparities in chronic low back pain (CLBP). Few studies have examined racial disparities in movement-related appraisals and no studies have examined anticipatory appraisals prior to or pain behaviors during functional activities among individuals with CLBP. This cross-sectional study examined racial differences in anticipatory appraisals of pain, concerns about harm, and anxiety, appraisals of pain and anxiety during movement, and observed pain behaviors during 3 activities of daily living (supine-to-standing bed task, sitting-to-standing chair task, floor-to-waist lifting task) in a sample (N = 126) of non-Hispanic Black (31.0%), Hispanic (30.2%), and non-Hispanic White (38.9%) individuals with CLBP. Hispanic participants reported more expected pain, concerns about harm, and pre-movement anxiety prior to the bed and chair tasks compared to non-Hispanic White participants. Hispanic participants reported more pain during the bed task and more anxiety during the bed and chair tasks compared to non-Hispanic White participants. Non-Hispanic Black participants reported more expected pain, concerns about harm, and pre-movement anxiety prior to the bed task and more pre-movement anxiety prior to the chair task compared to non-Hispanic White participants. Non-Hispanic Black participants reported more anxiety during the bed and chair tasks compared to non-Hispanic White participants. Non-Hispanic Black participants were observed to have significantly more verbalizations of pain during the bed task compared to non-Hispanic White participants. Current findings identify racial disparities in important cognitive-behavioral and fear-avoidance mechanisms of pain. Results indicate a need to revisit traditional theoretical and treatment models in CLBP, ensuring racial disparities in pain cognitions are considered. PERSPECTIVE: This study examined racial disparities in anticipatory and movement-related appraisals, and pain behaviors during activities of daily living among Non-Hispanic Black, Non-Hispanic White, and Hispanic individuals with CLBP. Racial disparities identified in the current study have potentially important theoretical implications surrounding cognitive-behavioral and fear-avoidance mechanisms of pain.

Lower-Limb Non-Parametric Functional Muscle Network: Test-Retest Reliability Analysis.

Functional muscle network analysis has attracted a great deal of interest in recent years, promising high sensitivity to changes of intermuscular synchronicity, studied mostly for healthy subjects and recently for patients living with neurological conditions (e.g., those caused by stroke). Despite the promising results, the between- and within-session reliability of the functional muscle network measures are yet to be established. Here, for the first time, we question and evaluate the test-retest reliability of non-parametric lower-limb functional muscle networks for controlled and lightly-controlled tasks, i.e., sit-to-stand, and over-the-ground walking, respectively, in healthy subjects. Fifteen subjects (eight females) were included over two sessions on two different days. The muscle activity was recorded using 14 surface electromyography (sEMG) sensors. The intraclass correlation coefficient (ICC) of the within-session and between-session trials was quantified for the various network metrics, including degree and weighted clustering coefficient. In order to compare with common classical sEMG measures, the reliabilities of the root mean square (RMS) of sEMG and the median frequency (MDF) of sEMG were also calculated. The ICC analysis revealed superior between-session reliability for muscle networks, with statistically significant differences when compared to classic measures. This paper proposed that the topographical metrics generated from functional muscle network can be reliably used for multi-session observations securing high reliability for quantifying the distribution of synergistic intermuscular synchronicities of both controlled and lightly controlled lower limb tasks. In addition, the low number of sessions required by the topographical network metrics to reach reliable measurements indicates the potential as biomarkers during rehabilitation.

Non-parametric Functional Muscle Network as a Robust Biomarker of Fatigue.

Characterization of fatigue using surface electromyography (sEMG) data has been motivated for rehabilitation and injury-preventative technologies. Current sEMG-based models of fatigue are limited due to (a) linear and parametric assumptions, (b) lack of a holistic neurophysiological view, and (c) complex and heterogeneous responses. This paper proposes and validates a data-driven non-parametric functional muscle network analysis to reliably characterize fatigue-related changes in synergistic muscle coordination and distribution of neural drive at the peripheral level. The proposed approach was tested on data collected in this study from the lower extremities of 26 asymptomatic volunteers (13 subjects were assigned to the fatigue intervention group, and 13 age/gender-matched subjects were assigned to the control group). Volitional fatigue was induced in the intervention group by moderate-intensity unilateral leg press exercises. The proposed non-parametric functional muscle network demonstrated a consistent decrease in connectivity after the fatigue intervention, as indicated by network degree, weighted clustering coefficient (WCC), and global efficiency. The graph metrics displayed consistent and significant decreases at the group level, individual subject level, and individual muscle level. For the first time, this paper proposed a non-parametric functional muscle network and highlighted the corresponding potential as a sensitive biomarker of fatigue with superior performance to conventional spectrotemporal measures.

Lower-limb Nonparametric Functional Muscle Network: Test-retest Reliability Analysis.

Objective: Functional muscle network analysis has attracted a great deal of interest in recent years, promising high sensitivity to changes of intermuscular synchronicity, studied mostly for healthy subjects and recently for patients living with neurological conditions (e.g., those caused by stroke). Despite the promising results, the between- and within-session reliability of the functional muscle network measures are yet to be established. Here, for the first time, we question and evaluate the test-retest reliability of non-parametric lower-limb functional muscle networks for controlled and lightly-controlled tasks, i.e., sit-to-stand, and over-the-ground walking, respectively, in healthy subjects. Method: Fifteen subjects (eight females) were included over two sessions on two different days. The muscle activity was recorded using 14 surface electromyography (sEMG) sensors. The intraclass correlation coefficient (ICC) of the within-session and between-session trials was quantified for the various network metrics, including degree and weighted clustering coefficient. In order to compare with common classical sEMG measures, the reliabilities of the root mean square (RMS) of sEMG and the median frequency (MDF) of sEMG were also calculated. Results: The ICC analysis revealed superior between-session reliability for muscle networks, with statistically significant differences when compared to classic measures. Conclusion and Significance: This paper proposed that the topographical metrics generated from functional muscle network can be reliably used for multi-session observations securing high reliability for quantifying the distribution of synergistic intermuscular synchronicities of both controlled and lightly controlled lower limb tasks. In addition, the low number of sessions required by the topographical network metrics to reach reliable measurements indicates the potential as biomarkers during rehabilitation.

Effect of integrated exercise therapy and psychosocial interventions on self-efficacy in patients with chronic low back pain: A systematic review.

OBJECTIVE: Investigate if integrated exercise and psychosocial (EP) interventions effect self-efficacy to manage pain and self-efficacy for physical functioning compared to alternate interventions, usual care, waitlists and attention controls for individuals with chronic low back pain (CLBP). METHODS: MEDLINE, Embase, CINAHL, Web of Science, PsychINFO, PEDro, and Cochrane Library were searched. Included randomized controlled trials utilized an EP intervention for CLBP and measured self-efficacy. Independent reviewers screened abstracts, reviewed full-texts, extracted data, and assessed risk of bias. GRADE, synthesis without meta-analysis, and ranges of effects (Hedges' g) were used. RESULTS: 2207 Participants were included (22-studies). EP interventions positively effected self-efficacy to manage pain short-term compared to usual care (range of effects: -0.02, 0.94) and controls (range of effects: 0.69, 0.80) and intermediately compared to usual care (range of effects: 0.11, 0.29); however, no differences were found when compared to alternate interventions. EP interventions positively effected self-efficacy for physical functioning short-term compared to alternate interventions (range of effects: 0.57, 0.71), usual care (range of effects: -0.15, 0.94), and controls (range of effects: 0.31, 0.56), and intermediately compared to alternate interventions (1-study, effect: 0.57) and controls (1-study, effect: 0.56). Conclusions were limited by low to very low-quality-evidence often from risk of bias, imprecision, and clinical/statistical heterogeneity. CONCLUSIONS: EP interventions may be more effective short-term for self-efficacy to manage pain than usual care and waitlists, but not alternate interventions. EP interventions may be effective for self-efficacy for physical functioning at short- and intermediate-term compared to alternate interventions, usual care, waitlist and attention controls. Considerations for future research include methods for blinding and measurement of self-efficacy for physical functioning.

Linear versus Nonlinear Muscle Networks: A Case Study to Decode Hidden Synergistic Patterns During Dynamic Lower-limb Tasks.

This paper, for the first time, compares the behaviors of nonlinear versus linear muscle networks in decoding hidden peripheral synergistic neural patterns during dynamic functional tasks. In this paper, we report a case study during which one healthy subject conducts a series of four lower limb repetitive tasks. Specifically, the paper focuses on tasks that involve the right knee joint, including walking, sit-tostand, stepping, and drop-jump. Twelve muscles were recorded using the Delsys Trigno system. The linear muscle network was generated using coherence analysis, and the nonlinear network was generated using Spearman's correlation. The results show that the degree, clustering coefficient, and global efficiency of the muscle network have the highest value among tasks in the linear domain for the walking task, while a low linear synergistic network behavior for the sit-to-stand is observed. On the other hand, the results show that the nonlinear functional muscle network decodes high connectivity (degree) and clustering coefficient and efficiency for the sit-tostand when compared with other tasks. We have also developed a two-dimensional functional connectivity plane composed of linear and nonlinear features and shown that it can span the lower-limb dynamic task space. The results of this paper for the first time highlight the importance of observing both linear and nonlinear connectivity patterns, especially for complex dynamic tasks. It should also be noted that through a simultaneous EEG recording (using BrainVision System), we have shown that, indeed, cortical activity may indirectly explain highly-connected nonlinear muscle network for the sit-to-stand task, highlighting the importance of nonlinear muscle network as a neurophysiological window of observation beyond the periphery.

High Level Mobility Training in Ambulatory Patients with Acquired Non-Progressive Central Neurological Injury: a Feasibility Study.

The purpose of this study was to test the feasibility and safety of High-Level Mobility (HLM) training on adults with Acquired Brain Injury (ABI). Our hypotheses were that HLM training would be feasible and safe. This study was a pilot randomized control trial with a Simple Skill Group (SSG) and a Complex Skill Group (CSG). Both groups received 12 sessions over 8 weeks and completed 4 testing sessions over 16 weeks. The SSG focused on locomotion, while CSG focused on the acquisition of running. Feasibility was assessed in terms of process, resources, management, and scientific metrics, including safety. Among the 41 participants meeting inclusion criteria, 28 consented (CSG, n = 13, SSG, n = 15), 20 completed the assigned protocol and 8 withdrew (CSG n = 4, SSG n = 4). Adherence rate to assigned protocol was 100%. There were two Adverse Events (AEs), 1 over 142 SSG sessions and 1 over 120 CSG sessions. The AE Odd Ratio (OR) (CSG:SSG) was 1.18 (95% CI: 0.07, 19.15). The data support our hypotheses that HLM training is feasible and safe on ambulatory adults with ABI.

Interrater Reliability of an Observational Rating Scale and Video Analysis of Yoga Poses.

CONTEXT: Yoga is increasingly popular, not only as a form of recreational exercise but also as a physician-recommended intervention for health conditions. While serious adverse effects accompanying yoga practice are rare, poses that involve upper-extremity weight-bearing have a high risk of discomfort. To better understand factors contributing to adverse effects, there is a critical need for robust instruments that objectively evaluate pose performance. The purpose of this study was to assess the interrater reliability of an observational scale developed to assess the alignment of 3 yoga poses. DESIGN: Cross-sectional experimental study. METHODS: Thirty-eight individuals were given standardized instructions and performed 3 poses (Downward Dog, Plank, and Side Plank). Lateral videos were rated by 2 raters. A rating scale evaluating the alignment of 7 regions was developed by the study team with input from yoga teachers. Descriptive statistics were used to summarize the percentage of subjects showing ideal alignment and deviations. Interrater reliability was quantified using Cohen kappa coefficient (κ). RESULTS: In Downward Dog, the prevalence of ideal alignment was 20%, 28%, and 37%, at the neck, shoulder, and back, respectively; κ ranged from .44 to .69. In Plank, the prevalence of ideal alignment was 31%, 45%, and 54% at the neck, shoulder, and back, respectively; κ ranged from .47 to .95. In Side Plank, the prevalence of ideal alignment was 16, 41%, and 24%, at the neck, shoulder, and back, respectively; κ ranged from .20 to .84. CONCLUSION: The observational scale found a high prevalence of deviations, and demonstrated fair to substantial interrater agreement.

Lower extremity MRI following 10-week supervised exercise intervention in patients with diabetic peripheral neuropathy.

INTRODUCTION: The purpose of this study was to characterize using MRI the effects of a 10-week supervised exercise program on lower extremity skeletal muscle composition, nerve microarchitecture, and metabolic function in individuals with diabetic peripheral neuropathy (DPN). RESEARCH DESIGN AND METHODS: Twenty participants with DPN completed a longitudinal trial consisting of a 30-day control period, during which subjects made no change to their lifestyle, followed by a 10-week intervention program that included three supervised aerobic and resistance exercise sessions per week targeting the upper and lower extremities. The participants' midcalves were scanned with multinuclear MRI two times prior to intervention (baseline1 and baseline2) and once following intervention to measure relaxation times (T1, T1ρ, and T2), phosphocreatine recovery, fat fraction, and diffusion parameters. RESULTS: There were no changes between baseline1 and baseline2 MRI metrics (p>0.2). Significant changes (p<0.05) between baseline2 and postintervention MRI metrics were: gastrocnemius medialis (GM) T1 -2.3%±3.0% and soleus T2 -3.2%±3.1%. Trends toward significant changes (0.050.3) and tibial nerve fractional anisotropy (p>0.6) and apparent diffusion coefficient (p>0.4). CONCLUSIONS: The 10-week supervised exercise intervention program successfully reduced adiposity and altered resting tissue properties in the lower leg in DPN. Gastrocnemius mitochondrial oxidative capacity and tibial nerve microarchitecture changes were not observed, either due to lack of response to therapy or to lack of measurement sensitivity.

Simultaneous T1 , T2 , and T1ρ relaxation mapping of the lower leg muscle with MR fingerprinting.

PURPOSE: To develop a novel MR-fingerprinting (MRF) pulse sequence that is insensitive to B1+ and B0 imperfections for simultaneous T1 , T2 , and T1ρ relaxation mapping. METHODS: We implemented a totally balanced spin-lock (TB-SL) module to encode T1ρ relaxation into an existing MRF framework that encoded T1 and T2 . The spin-lock module used two 180° pulses with compensatory phases to reduce T1ρ sensitivity to B1 and B0 inhomogeneities. We compared T1ρ measured using TB-SL MRF in Bloch simulations, model agar phantoms, and in vivo experiments to those with a self-compensated spin-lock preparation module (SC-SL). The TB-SL MRF repeatability was evaluated in maps acquired in the lower leg skeletal muscle of 12 diabetic peripheral neuropathy patients, scanned two times each during visits separated by about 30 days. RESULTS: The phantom relaxation times measured with TB-SL and SC-SL MRF were in good agreement with reference values in regions with low B1 inhomogeneities. Compared with SC-SL, TB-SL MRF showed in experiments greater robustness against severe B1 inhomogeneities and in Bloch simulations greater robustness against B1 and B0 . We measured with TB-SL MRF an average T1 = 950.1 ± 28.7 ms, T2 = 26.0 ± 1.2 ms, and T1ρ = 31.7 ± 3.2 ms in skeletal muscle across patients. Bland-Altman analysis demonstrated low bias between TB-SL and SC-SL MRF and between TB-SL MRF maps acquired in two visits. The coefficient of variation was less than 3% for all measurements. CONCLUSION: The proposed TB-SL MRF sequence is fast and insensitive to B1+ and B0 imperfections. It can simultaneously map T1 , T2 , T1ρ , and B1+ in a single scan and can potentially be used to study muscle composition.

Increased ease of access to genetic counseling for low-income women with breast cancer using a point of care screening tool.

Increased access to genetic counseling services is of prime importance in minority and underserved populations where genetic testing is currently underutilized. Our study tested a point of care screening tool to identify high-risk low-income patients for genetic counseling in a busy county hospital oncology clinic. Eligible breast patients treated at a "safety-net" hospital, were scored into 'high-risk' (> or = 6) or 'low-risk' (< 6) groups using a screening tool on personal and family history of cancer. Genetic counseling and testing were provided at the Vanderbilt Hereditary Cancer Program (VHCP) to all 'high-risk' and some 'low-risk' participants considered to need genetic counseling by their oncologist. Ninety-nine women with a history of breast cancer were enrolled onto the study over a period of 26 months. 53.5% (53/99) had a 'high-risk' score and ethnic predominance of African-American (60.4%). Of these, 67.9% (36/53) were counseled, and 91.6% (33/36) tested with a 9% (3/33) mutation positive rate. In the 'low-risk' group, 28.2% (13/46) still met current NCCN guidelines and were referred by their oncologist. 69.2% (9/13) were counseled and tested. The 'low-risk' group of predominantly Caucasian (41.3%) participants carried a 20% (2/10) mutation positive rate; which was later adjusted to 10% to exclude a mutation not conferring a strong breast cancer risk. The screening tool was well accepted by patients; and increased access to genetic counseling. There was a subset of breast cancer affected women under 45 with no reported family history that failed to be identified. Minor alterations to the tool would enhance concordance with current NCCN guidelines.

Diaphragmatic activity and neural breathing variability during a 5-min endotracheal continuous positive airway pressure trial in extremely preterm infants.

BACKGROUND: Extremely preterm infants are often exposed to endotracheal tube continuous positive airway pressure (ETT-CPAP) trials to assess extubation readiness. The effects of ETT-CPAP trial on their diaphragmatic activity (Edi) and breathing variability is unknown. METHODS: Prospective observational study enrolling infants with birth weight ≤1250 g undergoing their first extubation attempt. Diaphragmatic activity, expressed as the absolute minimum (Edi min) and maximum values (Edi max), area under the Edi signal, and breath-by-breath analyses for breath areas, amplitudes, widths, and neural inspiratory and expiratory times, were analyzed during mechanical ventilation (MV) and ETT-CPAP. Neural breathing variability of each of these parameters was also calculated and compared between MV and ETT-CPAP. RESULTS: Thirteen infants with median (interquartile range) birth weight of 800 g [610-920] and gestational age of 25.4 weeks [24.4-26.3] were included. Diaphragmatic activity significantly increased during ETT-CPAP when compared to MV:Edi max (44.2 vs. 38.1 µV), breath area (449 vs. 312 µV·s), and amplitude (10.12 vs. 7.46 µV). Neural breathing variability during ETT-CPAP was characterized by increased variability for amplitude and area under the breath, and decreased for breath time and width. CONCLUSIONS: A 5-min ETT-CPAP in extremely preterm infants undergoing extubation imposed significant respiratory load with changes in respiratory variability. IMPACT: ETT-CPAP trials are often used to assess extubation readiness in extremely preterm infants, but its effects upon their respiratory system are not well known. Diaphragmatic activity analysis demonstrated that these infants are able to mount an important response to a short trial. A 5-min trial imposed a significant respiratory load evidenced by increased diaphragmatic activity and changes in breathing variability. Differences in breathing variability were observed between successful and failed extubations, which should be explored further in extubation readiness investigations. This type of trial cannot be recommended for preterm infants in clinical practice until clear standards and accuracy are established.

Reliability of a New Clinical Gait Assessment Scale for Children with Idiopathic Toe Walking Gait - A Pilot Study.

AIMS: Children with idiopathic toe walking (ITW) gait are increasingly referred to physical therapists. The purpose of this study was to evaluate the intra-rater and inter-rater reliability of the Clinical Gait Assessment Scale (CGAS), a newly developed observational rating scale. METHODS: Four raters evaluated videos of four children. Foot, arm and head/trunk movement was scored as children walked over four surfaces. Intra-class correlation coefficients (ICC), model (3,k) were calculated to determine intra-rater and inter-rater reliability of each dependent variable. RESULTS: The key findings of this study indicate robust intra- and inter-rater reliability, particularly of the foot (Inter-rater reliability, ICC (3,2)=0.9) and head and trunk (Inter-rater reliability, ICC (3,2)=1.0) subsections. Arm movements were more challenging to rate and showed moderate reliability (Inter-rater reliability, ICC (3,2)=0.7). Highest total impairment score; the highest value occurred while walking on the obstacle course (38 ± 29). CONCLUSIONS: Overall, the CGAS showed adequate/acceptable reliability across different surfaces (linoleum, textured surface, narrow base, obstacle), however the obstacle surface was most challenging surface to the rater.