Do physicians know when to refer patients for genetic testing?

Primary care physicians (PCPs) are commonly approached with concerns involving patient genetics. This is a challenge because most PCPs lack expertise in genetic testing compared to their genetic counselor counterparts. Currently, the recommended best practice is to refer patients for genetic testing based on cancer-related family history questionnaires with a genetic counseling referral to discuss their results and any implications. However, the extent to which PCPs are using these questionnaires for this purpose remains poorly understood. In this cross-sectional study, PCPs were presented with the American Cancer Society's seven recommended family history questions to determine the percentage who consider each to be an indicator for referral to a genetics specialist. Questionnaires were completed by 88 of 260 attending PCPs at a national primary care review conference. The main outcome was the percentage of PCPs who identified each question as a trigger for genetic testing. Secondary outcomes included correlations with years of practice, genetics training, and methods used to obtain patient family history. Only two of the seven questions were considered triggers by most PCPs (range, 76-83%). The remaining five had lower percentages (range, 22-55%). Years of practice did not influence the number of triggers identified (Spearman correlation coefficient test: r = 0.05, p = 0.68). Few PCPs (3.4%) felt they had good to excellent genetics training during residency. Only 44.3% had genetics specialists available for referral. Overall, low percentages of PCPs consider the American Cancer Society questions to be triggers for genetic testing referrals. Furthermore, many do not have a genetics specialist or counselor available for referral. Addressing these concerns may help PCPs understand the basics of genetic testing and use standardized questionnaires to make appropriate referrals to genetic specialists, thereby reducing inappropriate referrals and improving appointment access to this precious resource for those who truly need it.

Pitching shoulder passive flexibility: torque-angle analysis for external rotation and internal rotation.

In this study, a custom device was developed to analyse the pitching shoulder's external rotation (ER) and internal rotation (IR) passive flexibility. We analysed three novel measures: the resistance onset angle (ROA = angle where the shoulder begins stretching), rotational stiffness, and torque at the end range of motion (ROM). The purpose was to conduct a bilateral analysis to determine if there are significant differences between the throwing and non-throwing shoulder. Participants were 30 upper level pitchers (13 division I, 17 minor league). During testing, pitchers laid supine on a treatment table and the arm was secured to a rotational wheel with the shoulder abducted 90° and elbow flexed 90°. Dependent t-tests revealed significant (p < 0.01) and relatively extreme bilateral differences for all three variables. The throwing shoulder had: increased ER ROA (9°), decreased IR ROA (5.3°), increased ER stiffness (17%), increased IR stiffness (34%), increased ER torque (21%), and increased IR torque (30%). Secondary correlation analysis was completed to determine if the torque-angle variables were good predictors of the end ROM. Stiffness correlations were weak for ER (r = 0.35, p = 0.048) and IR (r = 0.42, p = 0.017) but ROA correlations were strong for ER (r = 0.85, p < 0.001) and IR (r = 0.86, p < 0.001).

Distance running stride-to-stride variability for sagittal plane joint angles.

Recent research indicates that distance running stride-to-stride variability (SSV) is related to performance and injury. Previous studies have primarily focused on stride characteristics (stride length and time). We assessed SSV for sagittal plane joint angles with the primary purpose of testing for significant differences among the lower body joints. The secondary purpose was to determine if strong correlations exist among joint SSV measures. Thirty recreational adult runners participated in the study (8 females, 22 males, 39 ± 10 years; 53.1 ± 25.7 km/week). A 6-camera motion capture system (200 Hz) collected kinematic data during treadmill running at a preferred pace. A 2 by 3 repeated measures factorial ANOVA (phase-stance, swing; joint-hip, knee, ankle) was run (p = 0.05). There was a significant interaction effect (p < 0.001) and post hoc analysis revealed knee swing to be the most variable condition by far. For all three joints, there were strong correlations between stance and swing SSV (r = 0.80 to r = 0.88) and correlations among the joints were moderate to strong (r = 0.55 to 0.86). This study helps to better understand the joints/phases that contribute most to variability in the overall stride. Also, the strong correlations suggest that runners appear to have an overall SSV pattern that is similar across joints/phases.

Performance and Health Decrements Associated With Relative Energy Deficiency in Sport for Division I Women Athletes During a Collegiate Cross-Country Season: A Case Series.

The purpose of this case series was to evaluate the presence of low Energy Availability (EA) and its impact on components of Relative Energy Deficiency in Sport (RED-S) in a population of female collegiate runners. Seven female NCAA Division I athletes (age: 22.3 ± 1.5 yrs; height: 169.7 ± 5.7 cm; weight: 58.3 ± 4.1 kg) were tracked from August until February, covering the beginning (Pre XC), end (Post XC) of their competitive cross country season, and beginning of the following track season (Pre Track). The athletes were assessed for female athlete triad (Triad) risk, energy availability, body composition, resting metabolic rate (RMR), nutritional intake, and blood markers (including vitamin D, ferritin, and triiodothyronine (T3)). From Pre XC to Post XC there were no significant differences in body mass, fat free mass or body fat percentage. At Pre XC, mean EA was 31.6 ± 13.3 kcal/kg FFM∙d-1. From Post XC to Pre Track, there was a significant increase in body mass (59.1 ± 5.1 to 60.6 ± 5.7 kg, p<0.001,d=0.27). From Post XC to Pre Track, there was a significant increase in RMR (1466 ± 123.6 to 1614.6 ± 89.1 kcal·d-1, p<0.001,d=2.6). For 25(OH) vitamin D, there was a significant reduction from Pre XC to Post XC (44.1 ± 10.6 vs 39.5 ± 12.2 ng·mL-1, p=0.047,d=-0.4), and a significant increase from Post XC to Pre Track (39.5 ± 12.2 vs. 48.1 ± 10.4 ng·mL-1, p=0.014,d=0.75). For ferritin, there was a trend towards a decrease from Pre XC to Post XC (24.2 ± 13.2 vs. 15.7 ± 8.8 ng·mL-1, p=0.07, d=-0.75), as well as a trend toward an increase from Post XC to Pre Track (15.7 ± 8.8 vs. 34.1 ± 18.0 ng·mL-1, p=0.08, d=1.3). No differences in T3 were observed across time points. Average Triad risk score was 2.3 ± 1.4. Notably, 5 of 7 athletes met criteria for moderate risk. Despite many athletes meeting criteria for low EA and having elevated Triad risk assessment scores, most were able to maintain body mass and RMR. One athlete suffered severe performance decline and a reduced RMR. Surprisingly, she was the only athlete above the recommended value for ferritin. Following increased nutritional intake and reduced training volume, her performance and RMR recovered. Changes in body mass and body composition were not indicative of the presence of other concerns associated with RED-S. This exploratory work serves as a guide for future, larger studies for tracking athletes, using RMR and nutritional biomarkers to assess RED-S.

Metabolic testing does not alter distance running lower body sagittal kinematics.

BACKGROUND: Distance running fitness is commonly assessed using metabolic testing (MT). During MT, the runner must wear a mask that covers the nose and mouth. It is unclear if this increased challenge alters running kinematics and/or stride-to-stride variability (SSV). In this study we thoroughly assess the sagittal plane lower body joint angles. RESEARCH QUESTION: Are there significant differences between standard treadmill running kinematics and those collected during MT? METHODS: Twenty recreational runners participated (34.8 ± 10.0 years; 20+ miles per week). Six Vicon Bonita cameras were used to collect kinematic data (200 Hz). A metabolic cart (Parvo Medics TrueOne 2400) was used for heart rate (HR) collection and testing. Participants ran 4 × 4 min at preferred pace: 2 control runs (CON) and 2 MT runs. Ten strides were used to generate average stance and swing joint angle plots. The phase plots were compared for CON and MT and mean difference scores were calculated (to determine the kinematic change). SSV was determined by assessing the standard deviations among the 10 strides. Repeated measures ANOVA was used to test for significant differences among CON and MT trials. Reliability was assessed for 8 discrete joint angles using ICC analysis. RESULTS: There were no significant differences between CON and MT for both the joint angle plot comparisons and SSV. For the discrete kinematic measures, ICC scores were strong (0.89-0.99) between CON and MT. During MT, there were slight increases (p < 0.01) in HR (145 ± 14 vs. 147 ± 14) and RPE (10.4 ± 1.5 vs. 11.4 ± 1.5). SIGNIFICANCE: Results from this study support the validity of simultaneously conducting a kinematic and MT analysis. However, clinicians and performance coaches should be aware that 1) MT is slightly more physiologically demanding than CON and 2) approaches from this study can be used during individual assessments to confirm that kinematics are similar (between CON and MT).

Nature contact at school: The impact of an outdoor classroom on children's well-being.

Nature contact facilitates healthy child development and a disconnect with nature presents potential health risks. This study was designed to test a nature intervention at an elementary school among children. An experimental crossover design was implemented over six weeks; two teachers taught their respective kindergarten classes the daily language arts lesson in either the control (indoor classroom) or nature treatment (outdoor classroom) conditions. Child well-being measures were compared in the two conditions. Teachers' redirections of child behavior were significantly fewer in the nature condition (t = 2.49, p < 0.05) compared to the control. Also, fewer children were off task in the nature condition on average. There were mixed well-being results; children reported no significance difference in happiness in the two conditions, but teachers reported modest benefit in child well-being in the nature condition. The outdoor classroom is a promising method for increasing nature contact and promoting student well-being.

Developing reliable measures of the passive torque-angle relationship for shoulder internal and external rotation: Implications for overhead athletics.

OBJECTIVES: 1) Thoroughly assess shoulder flexibility by establishing the passive torque-angle relationship for internal and external rotation with the arm in an overhead athletics position (abducted 90°) and 2) test the reliability of four passive torque-angle measures. DESIGN: Reliability study. SETTING: Data were collected in a university biomechanics laboratory. PARTICIPANTS: Bilateral shoulder flexibility of 15 male college students (20.7 ±â€¯1.1 y) was evaluated twice in two sessions over 7-10 days. MAIN OUTCOME MEASURES: For both ER and IR, reliability was assessed bilaterally (intra-session, inter-session, and inter-tester) for the traditional range of motion measure and three novel kinetic measures: torque at end ROM, resistance onset angle, rotational stiffness. This resulted in 48 total assessments. RESULTS: Thirty-four assessments had good to excellent reliability (ICC ≥ 0.8), 10 had fair reliability (0.7 ≤ ICC < 0.8), and 4 had poor reliability (ICC< 0.7). Three of the four flexibility measures had a good overall ICC score: ROM (0.83), torque at end ROM (0.84), and resistance onset angle (0.81). The fourth, stiffness, had a fair overall reliability score (0.74). CONCLUSIONS: The passive torque-angle measures should be assimilated into clinical and research settings to determine the relevance to injury, rehabilitation, and performance.

Reliability of a technique for determining sagittal knee geometry from lateral knee radiographs.

The purposes of this study were to describe an analytical technique for determining selected 2-dimensional geometric characteristics of a knee joint using lateral knee radiographs and to examine the inter- and intra-analyst reliability of this technique. Five lateral knee radiographs of different knee flexion angles (25-85 degrees at intervals of 15 degrees ) were obtained from five subjects. Two graduate and five undergraduate students with knowledge of knee anatomy served as the analysts and were asked to identify certain landmarks from the radiographs. The coordinates of these landmarks were used to determine the effective moment arm of the quadriceps force, patellar tendon length, patella height, patellar mechanism and patellar tendon angles, and tibiofemoral and patellofemoral joint spaces. For each radiograph, intraclass correlation coefficients (ICCs) were computed for combinations of 2-7 analysts. Using all seven analysts, the ICCs ranged from 0.9967 to 0.9985 for different radiographs. When fewer analysts were used, the average ICCs were 0.9975 (6 analysts), 0.9974 (5 analysts), 0.9974 (4 analysts), 0.9974 (3 analysts), and 0.9973 (2 analysts). Four of the analysts re-analyzed the radiographs 2-3months after the initial analyses. Intra-analyst ICCs ranged from 0.9842 to 0.9999. Overall, the high ICC values indicate excellent inter- and intra-analyst reliability. The proposed technique is reliable and may be used for both clinical and research purposes. The relatively small reductions in ICCs when fewer analysts were used suggest that a single experienced analyst is sufficient for clinical assessment. However, 2-3 analysts are recommended for research purposes.