The examination of control entropy (CE) of triaxial accelerometry and lactate threshold in runners during treadmill exercise

The purpose of this study was to determine if the blood lactate threshold could be identified through the visual examination of the control entropy of high-resolution accelerometry in intercollegiate endurance runners (n=7). In procedures approved by the Eastern Michigan University College of Health and Human Services Human Subject Review Board, runners performed two lactate threshold tests to determine the relationship between the pace of running and the blood lactate concentration. High-resolution accelerometry (HRA) data as well as the metabolic cost of exercise was also collected during these trials. Control entropy (CE) analysis was conducted on the HRA of each individual plane of motion. Visual examination of the CE of the accelerations of the vertical and medio-lateral planes of motion revealed a relationship with the decline of CE, indicative of constraint, at paces which corresponded with an increase in blood lactate concentration of 1mmol/L above baseline

Plantar Pressure, Cutaneous Sensation and Stochastic Resonance: An Examination of Factors Influencing the Control and Perception of Posture

The goal of this dissertation was to understand how people control posture in the context of sensory loss. To do so we explored three potential influences on the detection of external information and how they relate to the control of posture and perception of body orientation: 1) does changing posture alter the forces under the foot, and do these changes impact the ability to detect external vibrations? 2) Does decreasing the temperature of the foot influence the ability to detect external vibrations, the perception of body orientation, and the control of posture? And 3) does stochastic resonance (SR) improve the perception of body orientation and the control of posture when the sensory thresholds are elevated to clinical levels through cooling of the feet? The results of the experiments indicate that: 1) increasing the pressure under the feet, elicited by changes in posture, elevates the cutaneous sensory threshold, and that the forefoot appears to be more sensitive than the rearfoot to changes in weighting; 2) decreasing the temperature of the skin elevates cutaneous sensory thresholds, and impacts postural control by constraining the fluctuations of the medial-lateral center of pressure; and 3) applying SR to the soles of the feet improves the ability to perceive body position, with greater amounts of skin cooling resulting in greater improvements in postural performance due to SR. This dissertation demonstrates that decreasing plantar loading lowers cutaneous sensory thresholds, indicating that the changes in postural fluctuations frequently observed among those with clinical sensory loss may serve as a mechanism that allows for improved access to external information if they prove to reduce the pressure under sensory impaired portions of the feet. Additionally, we add to the growing body of literature identifying SR as a means to improve postural performance when cutaneous sensory function is impaired. From a clinical perspective, the results presented here indicate that aids designed to apply SR to the soles of the feet, as a means to improve posture and gait, should modulate their signal such that they apply a signal amplitude appropriate to the amount of loading the foot experiences

Multiscale Entropy Identifies Postural Control Changes in Persons with Multiple Sclerosis

Multiple Sclerosis (MS) is a chronic auto-immune disorder characterized by demyelination of neurons of the central nervous system. MS-related reductions in neural activity have been associated with reductions in balance control and limitations in mobility. Multiscale entropy (MSE) analysis has been used to identify reductions in complexity of the postural control system in various disorders. The purpose of this study was to examine if center-of-pressure fluctuations, analyzed through MSE, differ between persons with MS and healthy controls. We hypothesized that MSE would be reduced in MS compared to controls in all postural tasks in both anterior-posterior (AP) and medio-lateral (ML) directions. Eight persons with MS (7 female, 1 male) and matched controls completed the testing procedures. The MS subjects had minimal functional impairment (Patient Determined Disease Steps, range 0-3). Quiet standing and fixed distance forward and backward reaches were assessed for 30 s. MSE was computed across 30 time scales (range .01-.25s). Effect size (ES) statistics were used to assess differences between MS and control groups. Quiet standing revealed moderate reductions in complexity among persons with MS compared to controls in the AP direction (ES = .71). The backward reach demonstrated moderate and strong reductions in complexity in the AP and ML direction in the MS group (ES = .74 and 1.0, respectively). Moderate reductions in ML complexity were also observed in the forward reach condition in the MS group (ES = .68). These results support the hypothesis that persons with MS display lower postural complexity compared to those without MS. MSE analysis is a promising new tool for detecting MS-related changes in postural complexity. These changes in postural complexity appear to precede locomotor impairment, as assessed by the patient determined disease steps, and may provide novel insight into MS progression

Postural Stability is Reduced in People with Multiple Sclerosis due to Walking-imposed Fatigue

The most limiting symptoms reported by individuals with multiple sclerosis (MS) are impaired balance and symptomatic fatigue. We have reported greater postural sway and reduced stability following local muscular fatigue in individuals with MS, suggesting that these symptoms may be related. However, it is unknown whether a similar relationship exists with modest increases in fatigue resulting from an activity of daily living (ADL). Thus, the purpose of this study was to determine whether walking has a greater impact on balance during postural tasks in people with MS (PwMS) compared to those without. Seven PwMS (43±12 yrs, 6F/1M) and 10 controls (CON; 42±12 yrs, 7F/3M) performed postural tasks (quiet stance, fixed/maximal reaches) pre/post 30 minutes of treadmill walking at a range of speeds (0.6-1.4 m/s). Individuals rated their fatigue pre/post walking using a Visual Analog Scale. Kinematic data were recorded using a passive marker system (Qualysis AB) and kinetic data were recorded using two forceplates (AMTI), one under each foot. The net center of pressure was analysed using a time to contact analysis to assess postural stability. Following prolonged walking PwMS demonstrated greater reductions in stability than the CON group during the most challenging task (P=0.04), that may be related to increased fatigue (P\u3c0.0001) following walking. PwMS demonstrated greater stability than the CON group for maximal reaches (backward, P=0.009; forward, P=0.03 frontal plane only), which may be explained by reduced reach distances performed by the PwMS (backward, P=0.2; forward, P=0.008). These findings suggest that PwMS place a higher priority on stability, than maximal reach distance, which could relate to fall-related fear or specific disease-related limitations. These findings indicate that postural stability is reduced in PwMS following a common ADL, thus individuals with MS should be counseled on the increased likelihood of balance loss with heightened fatigue, even at relatively low levels

Step-based physical activity metrics and cardiometabolic risk: NHANES 2005-2006

Purpose: This study aimed to catalog the relationships between step-based accelerometer metrics indicative of physical activity volume (steps per day, adjusted to a pedometer scale), intensity (mean steps per minute from the highest, not necessarily consecutive, minutes in a day; peak 30-min cadence), and sedentary behavior (percent time at zero cadence relative to wear time; %TZC) and cardiometabolic risk factors. Methods: We analyzed data from 3388 participants, 20+ yr old, in the 2005-2006 National Health and Nutrition Examination Survey with >/=1 valid day of accelerometer data and at least some data on weight, body mass index, waist circumference, systolic and diastolic blood pressure, glucose, insulin, HDL cholesterol, triglycerides, and/or glycohemoglobin. Linear trends were evaluated for cardiometabolic variables, adjusted for age and race, across quintiles of steps per day, peak 30-min cadence, and %TZC. Results: Median steps per day ranged from 2247 to 12,334 steps per day for men and from 1755 to 9824 steps per day for women, and median peak 30-min cadence ranged from 48.1 to 96.0 steps per minute for men and from 40.8 to 96.2 steps per minute for women for the first and fifth quintiles, respectively. Linear trends were statistically significant (all P < 0.001), with increasing quintiles of steps per day and peak 30-min cadence inversely associated with waist circumference, weight, body mass index, and insulin for both men and women. Median %TZC ranged from 17.6% to 51.0% for men and from 19.9% to 47.6% for women for the first and fifth quintiles, respectively. Linear trends were statistically significant (all P < 0.05), with increasing quintiles of %TZC associated with increased waist circumference, weight and insulin for men, and insulin for women. Conclusions: This analysis identified strong linear relationships between step-based movement/nonmovement dimensions and cardiometabolic risk factors. These data offer a set of quantified access points for studying the potential dose-response effects of each of these dimensions separately or collectively in longitudinal observational or intervention study designs.Peer reviewedCommunity Health Sciences, Counseling and Counseling Psycholog

High Resolution MEMS Accelerometers to Estimate VO2 and Compare Running Mechanics between Highly Trained Inter-Collegiate and Untrained Runners

BACKGROUND: The purposes of this study were to determine the validity and reliability of high resolution accelerometers (HRA) relative to VO(2) and speed, and compare putative differences in HRA signal between trained (T) and untrained (UT) runners during treadmill locomotion. METHODOLOGY: Runners performed 2 incremental VO(2max) trials while wearing HRA. RMS of high frequency signal from three axes (VT, ML, AP) and the Euclidean resultant (RES) were compared to VO(2) to determine validity and reliability. Additionally, axial rms relative to speed, and ratio of axial accelerations to RES were compared between T and UT to determine if differences in running mechanics could be identified between the two groups. PRINCIPAL FINDINGS: Regression of RES was strongly related to VO(2), but T was different than UT (r = 0.96 vs 0.92; p<.001) for walking and running. During walking, only the ratio of ML and AP to RES were different between groups. For running, nearly all acceleration parameters were lower for T than UT, the exception being ratio of VT to RES, which was higher in T than UT. All of these differences during running were despite higher VO(2), O(2) cost, and lower RER in T vs UT, which resulted in no significant difference in energy expenditure between groups. CONCLUSIONS/SIGNFICANCE: These results indicate that HRA can accurately and reliably estimate VO(2) during treadmill locomotion, but differences exist between T and UT that should be considered when estimating energy expenditure. Differences in running mechanics between T and UT were identified, yet the importance of these differences remains to be determined

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements [RETRACTED]

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm). We assessed the DNAm profiles of affected individuals with pathogenic and likely pathogenic PHIP variants with Infinium Methylation EPIC arrays and report a specific and sensitive DNAm episignature biomarker for Chung–Jansen syndrome. In addition, we observed similarities between the methylation profile of Chung–Jansen syndrome and that of functionally related and clinically partially overlapping genetic disorders, White–Kernohan syndrome (caused by variants in DDB1 gene) and Börjeson–Forssman–Lehmann syndrome (caused by variants in PHF6 gene). Based on these observations we also proceeded to develop a common episignature biomarker for these disorders. These newly defined episignatures can be used as part of a multiclass episignature classifier for screening of affected individuals with rare disorders and interpretation of genetic variants of unknown clinical significance, and provide further insights into the common molecular pathophysiology of the clinically-related Chung–Jansen, Börjeson–Forssman–Lehmann and White–Kernohan syndromes.</p