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Background: Pathogenic BRCA1 mutations are usually inherited. Constitutional low-level BRCA1 mosaicism has never been reported. Methods: Next-generation sequencing (NGS) of cancer gene panel of germline and tumour DNA in a patient with early onset, triple-negative breast cancer. Results: Constitutional de novo mosaicism (5%) for a pathogenic (c.1953dupG; p.Lys652Glufs*21) BRCA1 mutation was detected in leukocytes, buccal tissue and normal breast tissue DNA, with ∼50% mutation in tumorous breast tissue. Conclusion: This is the first reported case of low-level, multiple tissue, constitutional mosaicism in BRCA1 , and highlights the need to consider deep sequencing in affected individuals clinically suspected of having cancer predisposition whose tumours display a BRCA mutation.

The lipoprotein encoded by the Francisella tularensis subsp. tularensis locus FTT1103 is essential for virulence; an FTT1103 deletion mutant is defective in uptake and intracellular survival, and mice survive high dose challenges of greater than 10(8) bacteria. This protein has two conserved domains; one is found in a class of virulence proteins called macrophage infectivity potentiator (Mip) proteins, and the other in oxidoreductase Disulfide Bond formation protein A (DsbA)-related proteins. We have designated the protein encoded by FTT1103 as FipB for Francisellainfectivity potentiator protein B. The locus FTT1102 (fipA), which is upstream of fipB, also has similarity to same conserved Mip domain. Deletion and site-specific mutants of fipA and fipB were constructed in the Schu S4 strain, and characterized with respect to intracellular replication and in vivo virulence. A nonpolar fipA mutant demonstrated reduced survival in host cells, but was only slightly attenuated in vivo. Although FipB protein was present in a fipA mutant, the abundance of the three isoforms of FipB was altered, suggesting that FipA has a role in post-translational modification of FipB. Similar to many DsbA homologues, FipB contains a cysteine-any amino acid-any amino acid-cysteine (CXXC) motif. This motif was found to be important for FipB's role in virulence; a deletion mutant complemented with a gene encoding a FipB protein in which the first cysteine was changed to an alanine residue (AXXC) failed to restore intracellular survival or in vivo virulence. Complementation with a gene that encoded a CXXA containing FipB protein was significantly defective in intracellular growth; however, only slightly attenuated in vivo.

Genetic counselors (GCs) have recently begun moving into non-clinic based roles in increasing numbers. A relatively new role for GCs is working for startup companies. Startups are newly established companies in the phase of developing and researching new scalable businesses. This article explores the experiences of four GCs working at different startup companies and aims to provide resources for GCs interested in learning more about these types of roles. The article describes startup culture, including a relatively flat organizational structure, quick product iterations, and flexibility, among other unique cultural characteristics. Financial considerations are described, including how to understand and evaluate a company’s financial status, along with a brief explanation of alternate forms of compensation including stock options and equity. Specifically, the article details the uncertainties and rewards of working in a fast-paced startup environment that affords opportunities to try new roles and use the genetic counseling skill set in new ways. This article aims to aid GCs in determining whether a startup environment would be a good fit, learning how to evaluate a specific startup, and understanding how to market themselves for positions at startups.

With the increasing awareness of genetic contributions to disease in Canada, the availability of and demand for genetic testing has soared. Genetic counseling is becoming a recognized and rapidly growing (yet unregulated) health profession in Canada. We hypothesized that the potential risk for harm to the public posed by genetic counseling practice in the province of Ontario is sufficient to consider regulation. The Ontario Ministry of Health and Long-Term Care (MOHTLC) sets criteria (both primary and secondary) to identify health professional bodies that meet the threshold for regulation in the province. We developed a survey based on the MOHTLC criteria to determine if genetic counselors meet the primary criteria to be considered for health professions regulation in Ontario. We surveyed 120 Ontario genetic counselors about their clinical practice and perceptions of risk for harm to the public. Results indicate that Ontario genetic counselors are highly independent in their clinical practice and are involved in patient care activities, clinical judgement and decision-making that have the potential to harm patients. In particular, cancer genetic counselors were identified as a cohort that practices with relatively high autonomy and low supervision. In summary, our study indicates that genetic counseling practice in Ontario meets the primary criteria to be considered for regulation.

Table of contents P1 Impact of antioxidant-enriched nutrient bar supplementation on the serum antioxidant markers and physical fitness components of track and field athletes Lalitha Ramaswamy, Supriya Velraja P2 The effects of phosphatidic acid supplementation on fitness levels in resistance trained women Guillermo Escalante, Phil Harvey, Michelle Alencar, Bryan Haddock P3 The effects of phosphatidic acid supplementation on cardiovascular risk factors in resistance trained men Phil Harvey, Guillermo Escalante, Michelle Alencar, Bryan Haddock P4 The efficacy of sodium bicarbonate supplementation on physical capacity and selected biochemical markers in elite wrestlers Krzysztof Durkalec-Michalski, Jan Jeszka, Bogna Zawieja, Tomasz Podgórski P5 Effects of different nutritional strategies in hydration and physical performance in healthy well-trained males Ana Paula Trussardi Fayh, Alexandre Hideki Okano, Amanda Maria de Jesus Ferreira P6 Reduction of plasma creatine concentrations as an indicator of improved bioavailability Ralf Jäger, Martin Purpura, Roger C Harris P7 Effect of three different breakfast meals on energy intake and nutritional status in college-age women Molly M. Krause, Kiley A. Lavanger, Nina O. Allen, Allison E. Lieb, Katie A. Mullen, Joan M. Eckerson P8 Accuracy of the ASA24® Dietary Recall system for assessing actual dietary intake in normal weight college-age women. Kiley A. Lavanger, Molly M. Krause, Nina O. Allen, Allison E. Lieb, Katie A. Mullen, Joan M. Eckerson P9 β-aminoisobutyric acid does not regulate exercise induced UCP-3 expression in skeletal muscle Elisa Morales, Jeffrey Forsse, Thomas Andre, Sarah McKinley, Paul Hwang, Grant Tinsley, Mike Spillane, Peter Grandjean, Darryn Willoughby P10 The ability of collegiate football athletes to adhere to sport-specific nutritional recommendations A. Jagim, G. Wright, J. Kisiolek, M. Meinking, J. Ochsenwald, M. Andre, M.T. Jones, J. M. Oliver P11 A single session of low-volume high intensity interval exercise improves appetite regulation in overweight men Victor Araújo Ferreira, Daniel Costa de Souza, Victor Oliveira Albuquerque dos Santos, Rodrigo Alberto Vieira Browne, Eduardo Caldas Costa, Ana Paula Trussardi Fayh P12 Acute effects of oral peppermint oil ingestion on exercise performance in moderately-active college students Suresh T. Mathews, Haley D. Bishop, Clara R. Bowen, Yishan Liang, Emily A. West, Rebecca R. Rogers, Mallory R. Marshall, John K. Petrella P13 Associations in body fat and liver triglyceride content with serum health markers in sedentary and exercised rats fed a ketogenic diet, Western diet or standard chow over a 6-week period A. Maleah Holland, Wesley C. Kephart, Petey W. Mumford, C. Brooks Mobley, Ryan P. Lowery, Jacob M. Wilson, Michael D. Roberts P14 Physiological changes following competition in male and female physique athletes: A pilot study Eric T. Trexler, Katie R. Hirsch, Bill I. Campbell, Meredith G. Mock, Abbie E. Smith-Ryan P15 Relationship between cognition and hydration status in college students at a large Southwestern university Kate Zemek, Carol Johnston P16 Whey protein-derived exosomes increase protein synthesis in C2C12 myotubes C. Brooks Mobley, Petey W. Mumford, David D. Pascoe, Christopher M. Lockwood, Michael E. Miller, Michael D. Roberts P17 The effect of three different energy drinks on 1.5-mile running performance, oxygen consumption, and perceived exertion Gabriel J. Sanders, Willard Peveler, Brooke Warning, Corey A. Peacock P18 The Ketogenic diet improves rotarod performance in young and older rats Wesley C. Kephart, Petey W. Mumford, Ryan P. Lowery, Michael D. Roberts, Jacob M. Wilson P19 Absorption of bonded arginine silicate compared to individual arginine and silicon components David Sandler, Sara Perez Ojalvo, James Komorowski P20 Effects of a high (2.4 g/kg) vs. low/moderate (1.2 g/kg) protein intake on body composition in aspiring female physique athletes engaging in an 8-week resistance training program Bill I. Campbell, Danielle Aguilar, Andres Vargas, Laurin Conlin, Amey Sanders, Paola Fink-Irizarry, Layne Norton, Ross Perry, Ryley McCallum, Matthew R. Wynn, Jack Lenton P21 Effects of a high (2.4 g/kg) vs. low/moderate (1.2 g/kg) protein intake on maximal strength in aspiring female physique athletes engaging in an 8-week resistance training program Bill I. Campbell, Chris Gai, Seth Donelson, Shiva Best, Daniel Bove, Kaylee Couvillion, Jeff Dolan, Dante Xing, Kyshia Chernesky, Michael Pawela, Andres D. Toledo, Rachel Jimenez P22 Monitoring of female collegiate athletes over a competitive season reveals changes in nutritional biomarkers M. Rabideau, A. Walker, J. Pellegrino, M. Hofacker, B. McFadden, S. Conway, C. Ordway, D. Sanders, R. Monaco, M. S. Fragala, S. M. Arent P23 Comparison of prediction equations to indirect calorimetry in men and women athletes Jason D. Stone, Andreas Kreutzer, Jonathan M. Oliver, Jacob Kisiolek, Andrew R. Jagim P24 Regional variations in sweat-based electrolyte loss and changes in plasma electrolyte content in Division I female athletes over the course of a competitive season M. Hofacker, A. Walker, J. Pellegrino, M. Rabideau, B. McFadden, S. Conway, D. Sanders, C. Ordway, R. Monaco, M. S. Fragala, S. M. Arent P25 In-season changes in plasma amino acid levels in Division I NCAA female athletes Ozlem Tok, Joseph K. Pellegrino, Alan J. Walker, David J. Sanders, Bridget A. McFadden, Meaghan M. Rabideau, Sean P. Conway, Chris E. Ordway, Marissa Bello, Morgan L. Hofacker, Nick S. Mackowski, Anthony J. Poyssick, Eddie Capone, Robert M. Monaco, Maren S. Fragala, Shawn M. Arent P26 Effects of a ketogenic diet with exercise on serum markers of bone metabolism, IGF-1 and femoral bone mass in rats Petey W. Mumford, A. Maleah Holland, Wesley C. Kephart, Ryan P. Lowery, C. Brooks Mobley, Romil K. Patel, Annie Newton, Darren T. Beck, Michael D. Roberts, Jacob M. Wilson, Kaelin C. Young P27 Casein supplementation in trained men and women: morning versus evening Tobin Silver, Anya Ellerbroek, Richard Buehn, Leo Vargas, Armando Tamayo, Corey Peacock, Jose Antonio P28 A high protein diet has no harmful effects: a one-year crossover study in resistance-trained males Anya Ellerbroek, Tobin Silver, Richard Buehn, Leo Vargas, Armando Tamayo, Corey Peacock, Jose Antonio P29 SUP (Stand-up Paddling) athletes: nutritional intake and body composition Adam Pollock, Anya Ellerbroek, Tobin Silver, Corey Peacock, Jose Antonio P30 The effects of 8 weeks of colostrum and bio-active peptide supplementation on body composition in recreational male weight lifters A. Kreutzer, P. Zavala, S. Fleming, M. Jones, J. M. Oliver, A. Jagim P31 Effects of a Popular Women’s Thermogenic Supplement During an Energy-Restricted High Protein Diet on Changes in Body Composition and Clinical Safety Markers Cody T. Haun, Petey W. Mumford, Parker N. Hyde, Ciaran M. Fairman, Wesley C. Kephart, Darren T. Beck, Jordan R. Moon, Michael D. Roberts, Kristina L. Kendall, Kaelin C. Young P32 Three days of caffeine consumption following caffeine withdrawal yields small strength increase in knee flexors Geoffrey M Hudson, Tara Hannings, Kyle Sprow, Loretta DiPietro P33 Comparison of cellular nitric oxide production from various sports nutrition ingredients Doug Kalman, Sara Perez Ojalvo, James Komorowski P34 The effects of 8 weeks of bio-active peptide supplementation on training adaptations in recreational male weight lifters P. Zavala, S. Fleming, M. Jones, J. Oliver, A. Jagim P35 Effects of MusclePharm Assault Black TM on lower extremity spinal excitability and postactivation potentiation: A pilot study Brian Wallace, Haley Bergstrom, Kelly Wallace P36 Effects of four weeks of Ketogenic Diet alone and combined with High intensity Interval Training or Continuous-Moderate intensity on body composition, lipid profile and physical performance on healthy males Matias Monsalves-Alvarez, Sebastian Oyharçabal, Victoria Espinoza P37 Effect of branched-chain amino acid supplementation on creatine kinase, muscular performance, and perceived muscle soreness following acute eccentric exercise Trisha A. VanDusseldorp, Kurt A. Escobar, Kelly E. Johnson, Nathan Cole, Terence Moriarty, Matthew Stratton, Marvin R. Endito, Christine M. Mermier, Chad M. Kerksick P38 Effects of endurance training on markers of ribosome biogenesis in rodents fed a high fat diet Matthew A. Romero, C. Brooks Mobley, Melissa Linden, Grace Margaret-Eleanor Meers, R. Scott Rector, Michael D. Roberts P39 The effects of acute citrulline-malate on lower-body isokinetic performance in recreationally active individuals Joshua L Gills, Hocheng Lu, Kimberly Parker, Chris Dobbins, Joshua N Guillory, Braden Romer, David Szymanski, Jordan Glenn P40 The effect pre-ingested L-isoleucine and L-leucine on blood glucose responses and glycemic hormones in healthy inactive adults: Preliminary data. Daniel E. Newmire, Eric Rivas, Sarah E. Deemer, Robert Wildman, Victor Ben-Ezra P41 Does protein and source impact substrate oxidation and energy expenditure during and after moderate intensity treadmill exercise? C Kerksick, B Gieske, R Stecker, C Smith, K Witherbee P42 Effects of a pre-workout supplement on peak power and power maintenance during lower and upper body testing Michael T. Lane, M. Travis Byrd, Zachary Bell, Emily Frith, Lauren M.C. Lane P43 Effects of a pre-workout supplement on peak power production during lower and upper body testing in college-age females Michael T. Lane, M. Travis Byrd, Zachary Bell, Emily Frith, Lauren M.C. Lane P44 A comparison of whey versus casein protein supplementation on resting metabolic rate and body composition: a pilot study Corey A. Peacock, Tobin A. Silver, Megan Colas, Mauricio Mena, Winter Rodriguez, Gabriel J. Sanders, Jose Antonio P45 A novel mixed-tocotrienol intervention enhances recovery after eccentric exercise: preliminary findings Andrea Vansickle, Brittany DiFiore, Stephanie Stepp, Grant Slack, Bridget Smith, Kayla

A single heart rate (HR) measurement may inform future prognosis in chronic heart failure with reduced ejection fraction (HFrEF). The importance of elevated HR across serial assessment is uncertain, particularly with well-applied guideline-directed medical therapy (GDMT) with beta blockers (BBs). In this post hoc analysis of 129 patients with chronic HFrEF in sinus rhythm, who had aggressive medication titration over 10.6 months, HR and BB use were assessed at each visit (average of 6 visits per patient). All-cause mortality was assessed. At baseline, 81 subjects (62.8%) had HR ≥70 beats/min; 40 subjects (31.0%) had high HR despite being on ≥50% of GDMT BB dose. At final visit, 30.4% of the subjects still had high HR despite achieving ≥50% target BB dose. There were no significant baseline differences in demographics or BB doses in patients with HR <70 vs HR ≥70 beats/min. In adjusted model in which HR was treated as time-dependent covariate, an increase in HR of 10  beats/min was associated with an increased hazard of all-cause mortality during follow-up (adjusted hazard ratio per 10 beats/min = 2.46; 95% confidence interval 1.46–4.16, p <0.001). In conclusion, in well-managed patients with HFrEF, high HR was frequent even after aggressive medication titration, and often despite being on at least 50% of GDMT BB dose. An increase in HR was associated with worse clinical outcomes (Clinicaltrials.gov NCT#00351390).

Although acute increases in levels of the stress-hormone cortisol are part of healthy functioning, prolonged increases in cortisol levels can contribute to the development and exacerbation of multiple chronic medical conditions. Due to the connection between cortisol exposure and adverse health outcomes, it is important to examine the factors that prolong or reduce exposure to cortisol. Performance situations and mental rehearsal of past stressors, or rumination, have been associated with enhanced activation of the stress response Feedback valence (e.g., praise and criticism) regarding performance stressors has been linked to ruminative thought and other psychosocial processes (e.g., self-esteem, self-compassion) that may influence cortisol levels. However, the current research does not address the physiological effects of feedback valence or the possible role of rumination in the relationship between feedback valence and physiological responses. The goals of the present study were to investigate the association between feedback valence (e.g., praise, criticism, and neutral feedback) and cortisol levels, as well as examine the potential mediating role of rumination in the relationship between feedback valence and cortisol levels. Healthy undergraduate students (n = 126) were randomly assigned to receive positive (praise), negative (criticism), or neutral scripted feedback in response to an impromptu speech task (performance stressor). Cortisol levels were collected throughout the experiment to reflect levels at baseline, during the stressor, and during the recovery period after the stressor. State rumination was also measured during the recovery period. Participants rated the praise feedback as most positive followed by the neutral and criticism feedback respectively, indicating that the manipulation was successful. Overall, feedback condition and state rumination were not related to cortisol exposure. Across feedback valence conditions, gender predicted cortisol response patterns, with men exhibiting higher cortisol levels than women. Feedback condition and gender interacted to marginally predicted cortisol trajectory over the course of the study. Although the results of the study generally do not support the hypotheses, marginally significant analyses indicated gender differences in the relationship between verbal performance feedback and cortisol levels, which may warrant further investigation.

Graph Neural Networks (GNNs) have been shown to be a powerful tool for generating predictions from biological data. Their application to neuroimaging data such as functional magnetic resonance imaging (fMRI) scans has been limited. However, applying GNNs to fMRI scans may substantially improve predictive accuracy and could be used to inform clinical diagnosis in the future. In this paper, we present a novel approach to representing resting-state fMRI data as a graph containing nodes and edges without omitting any of the voxels and thus reducing information loss. We compare multiple GNN architectures and show that they can successfully predict the disease and sex of a person. We hope to provide a basis for future work to exploit the power of GNNs when applied to brain imaging data.

We introduce the framework of continuous-depth graph neural networks (GNNs). Neural graph differential equations (Neural GDEs) are formalized as the counterpart to GNNs where the input-output relationship is determined by a continuum of GNN layers, blending discrete topological structures and differential equations. The proposed framework is shown to be compatible with static GNN models and is extended to dynamic and stochastic settings through hybrid dynamical system theory. Here, Neural GDEs improve performance by exploiting the underlying dynamics geometry, further introducing the ability to accommodate irregularly sampled data. Results prove the effectiveness of the proposed models across applications, such as traffic forecasting or prediction in genetic regulatory networks.