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To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Objective: Health-related quality of life (HRQoL) is an important outcome in individuals with a high risk for cardiovascular diseases. We investigated the association of HRQoL and body mass index (BMI) as an indicator for obesity.
Design: Secondary longitudinal analysis of the ORBITAL study, an intervention study which included high-risk cardiovascular primary care patients with hypercholesterolemia and an indication for statin therapy.
Methods: HRQoL was determined with the generic Short Form (SF)-12 health status instrument. Body weight and height were assessed at baseline and at months 6, 12, 18, 24, 30, and 36. We used a linear and a linear mixed-effects regression model to investigate the association between BMI and SF-12 summary scores at baseline as well as between change in BMI and SF-12 summary scores over 3 years. We adjusted for age, sex, smoking status, and in the longitudinal analysis also for the study arm and its interaction term with time.
Results: Of the 7640 participants who completed the baseline questionnaire, 6726 participants (mean age: 61 years) were analyzed. The baseline BMI was inversely associated with physical and mental SF-12 summary scores (beta [95% CI] per 1 kg/ m(2) : -0.36 [-0.41; -0.30] and -0.05 [-0.11; -0.00], respectively). A significant association between the change in BMI and physical SF-12 summary scores over time was only present in women (-0.18 [-0.27; -0.09]) and only in obese participants (-0.19 [-0.29; -0.10]). A change in BMI was directly associated with mental SF-12 summary scores (0.12 [0.06; 0.19]) in the total population.
Conclusion: Increases in BMI were associated with decreases in physical HRQoL, particularly in obese individuals and in women. In contrast, the mental HRQoL seemed to increase with increasing BMI over time. Thus, body weight management with respect to the HRQoL should be evaluated differentially by sex and body weight status.
Neuromuscular response of the trunk to sudden gait disturbances: Forward vs. backward perturbation
(2016)
The study aimed to analyse neuromuscular activity of the trunk comparing four different perturbations during gait. Thirteen subjects (28 +/- 3 yrs) walked (1 m/s) on a split-belt treadmill, while 4 (belt) perturbations (F1, F2, B1, B2) were randomly applied. Perturbations differed, related to treadmill belt translation, in direction (forward (F)/backward (B)) and amplitude (20 m/s(2) (1)/40 m/s(2) (2)). Trunk muscle activity was assessed with a 12-lead-EMG. EMG-RMS [%] (0-200 ms after perturbation; normalized to RMS of normal gait) was analyzed for muscles and four trunk areas (ventral left/right; dorsal left/right). Ratio of ventral: dorsal muscles were calculated. Muscle onset [ms] was determined. Data analysis was conducted descriptively, followed by ANOVA (post hoc Tukey-Kramer (alpha = 0.05)). All perturbations lead to an increase in EMG-RMS (428 +/- 289%). F1 showed the lowest and F2 the highest increase for the flexors. B2 showed the highest increase for the extensors. Significant differences between perturbations could be observed for 6 muscles, as well as the 4 trunk areas. Ratio analysis revealed no significant differences (range 1.25 (B1) to 1.71 (F2) between stimuli. Muscle response time (ventral: 87.0 +/- 21.7 ms; dorsal: 88.4 +/- 17.0 ms) between stimuli was only significant (p = 0.005) for the dorsal muscles. Magnitude significantly influences neuromuscular trunk response patterns in healthy adults. Regardless of direction ventral muscles always revealed higher relative increase of activity while compensating the walking perturbations. (C) 2016 Elsevier Ltd. All rights reserved.
Background Overweight and obesity are increasing health problems that are not restricted to adults only. Childhood obesity is associated with metabolic, psychological and musculoskeletal comorbidities. However, knowledge about the effect of obesity on the foot function across maturation is lacking. Decreased foot function with disproportional loading characteristics is expected for obese children. The aim of this study was to examine foot loading characteristics during gait of normal-weight, overweight and obese children aged 1-12 years. Methods Results Mean walking velocity was 0.95 +/- 0.25 m/s with no differences between normal-weight, overweight or obese children (p = 0.0841). Results show higher foot contact area, arch index, peak pressure and force time integral in overweight and obese children (p< 0.001). Obese children showed the 1.48-fold (1 year-old) to 3.49-fold (10 year-old) midfoot loading (FTI) compared to normal-weight. Conclusion Additional body mass leads to higher overall load, with disproportional impact on the midfoot area and longitudinal foot arch showing characteristic foot loading patterns. Already the feet of one and two year old children are significantly affected. Childhood overweight and obesity is not compensated by the musculoskeletal system. To avoid excessive foot loading with potential risk of discomfort or pain in childhood, prevention strategies should be developed and validated for children with a high body mass index and functional changes in the midfoot area. The presented plantar pressure values could additionally serve as reference data to identify suspicious foot loading patterns in children.
The enormous species richness of flowering plants is at least partly due to floral diversification driven by interactions between plants and their animal pollinators [1, 2]. Specific pollinator attraction relies on visual and olfactory floral cues [3-5]; floral scent can not only attract pollinators but also attract or repel herbivorous insects [6-8]. However, despite its central role for plant-animal interactions, the genetic control of floral scent production and its evolutionary modification remain incompletely understood [9-13]. Benzenoids are an important class of floral scent compounds that are generated from phenylalanine via several enzymatic pathways [14-17]. Here we address the genetic basis of the loss of floral scent associated with the transition from outbreeding to selfing in the genus Capsella. While the outbreeding C. grandiflora emits benzaldehyde as a major constituent of its floral scent, this has been lost in the selfing C. rubella. We identify the Capsella CNL1 gene encoding cinnamate: CoA ligase as responsible for this variation. Population genetic analysis indicates that CNL1 has been inactivated twice independently in C. rubella via different novel mutations to its coding sequence. Together with a recent study in Petunia [18], this identifies cinnamate: CoA ligase as an evolutionary hotspot for mutations causing the loss of benzenoid scent compounds in association with a shift in the reproductive strategy of Capsella from pollination by insects to self-fertilization.
Background: Total hip or knee replacement is one of the most frequently performed surgical procedures. Physical rehabilitation following total hip or knee replacement is an essential part of the therapy to improve functional outcomes and quality of life. After discharge from inpatient rehabilitation, a subsequent postoperative exercise therapy is needed to maintain functional mobility. Telerehabilitation may be a potential innovative treatment approach. We aim to investigate the superiority of an interactive telerehabilitation intervention for patients after total hip or knee replacement, in comparison to usual care, regarding physical performance, functional mobility, quality of life and pain. Methods/design: This is an open, randomized controlled, multicenter superiority study with two prospective arms. One hundred and ten eligible and consenting participants with total knee or hip replacement will be recruited at admission to subsequent inpatient rehabilitation. After comprehensive, 3-week, inpatient rehabilitation, the intervention group performs a 3-month, interactive, home-based exercise training with a telerehabilitation system. For this purpose, the physiotherapist creates an individual training plan out of 38 different strength and balance exercises which were implemented in the system. Data about the quality and frequency of training are transmitted to the physiotherapist for further adjustment. Communication between patient and physiotherapist is possible with the system. The control group receives voluntary, usual aftercare programs. Baseline assessments are investigated after discharge from rehabilitation; final assessments 3 months later. The primary outcome is the difference in improvement between intervention and control group in 6-minute walk distance after 3 months. Secondary outcomes include differences in the Timed Up and Go Test, the Five-Times-Sit-to-Stand Test, the Stair Ascend Test, the Short-Form 36, the Western Ontario and McMaster Universities Osteoarthritis Index, the International Physical Activity Questionnaire, and postural control as well as gait and kinematic parameters of the lower limbs. Baseline-adjusted analysis of covariance models will be used to test for group differences in the primary and secondary endpoints. Discussion: We expect the intervention group to benefit from the interactive, home-based exercise training in many respects represented by the study endpoints. If successful, this approach could be used to enhance the access to aftercare programs, especially in structurally weak areas.
Instrumented treadmills offer the potential to generate standardized walking perturbations, which are particularly rapid and powerful. However, technical requirements to release adequate perturbations regarding timing, duration and amplitude are demanding. This study investigated the test-retest reliability and validity of a new treadmill perturbation protocol releasing rapid and unexpected belt perturbations to provoke muscular reflex responses at lower extremities and the trunk. Fourteen healthy participants underwent two identical treadmill walking protocols, consisting of 10 superimposed one-sided belt perturbations (100 ms duration; 2 m/s amplitude), triggered by a plantar pressure insole 200 ms after heel contact. Delay, duration and amplitude of applied perturbations were recorded by 3D-motion capture. Muscular reflex responses (within 200 ms) were measured at lower extremities and the trunk (10-lead EMG). Data was analyzed descriptively (mean +/- SD). Reliability was analyzed using test-retest variability (TRV%) and limits of agreement (LoA, bias +/- 1.96*SD). Perturbation delay was 202 14 ms, duration was 102 +/- 4 ms and amplitude was 2.1 +/- 0.01 m/s. TRV for perturbation delay, duration and amplitude ranged from 5.0% to 5.7%. LoA reached 3 +/- 36 ms for delay, 2 +/- 13 ms for duration and 0.0 +/- 0.3 m/s for amplitude. EMG amplitudes following perturbations ranged between 106 +/- 97% and 909 +/- 979% of unperturbed gait and EMG latencies between 82 +/- 14 ms and 106 +/- 16 ms. Minor differences between preset and observed perturbation characteristics and results of test-retest analysis prove a high validity with excellent reliability of the setup. Therefore, the protocol tested can be recommended to provoke muscular reflex responses at lower extremities and the trunk in perturbed walking. (C) 2017 Elsevier Ltd. All rights reserved.
Repetitive overhead movements have been identified as a main risk factor to develop shoulder complaints with scapular muscle activity being altered. Reliable assessment of muscle activity is essential to differentiate between symptomatic and asymptomatic individuals. Therefore, the present study aimed to investigate the intra-and inter-session reliability of scapular muscle activity during maximal isokinetic shoulder flexion and extension. Eleven asymptomatic adults performed maximum effort isokinetic shoulder flexion and extension (concentric and eccentric at 60 degrees/s) in a test-retest design. Muscle activity of the upper and lower trapezius and serratus anterior was assessed by sEMG. Root Mean Square was calculated for whole ROM and single movement phases of absolute and normalized muscle activity. Absolute (Bland-Altman analysis (Bias, LoA), Minimal detectable change (MDC)) and relative reliability parameters (Intraclass correlation coefficient (ICC), coefficient of variation (CV)/test-retest variability (TRV)) were utilized for the evaluation of reproducibility. Intra-session reliability revealed ICCs between 0.56 and 0.98, averaged CVs of 18% and average MDCs of 81 mV. Inter-session reliability resulted in ICCs between 0.13 and 0.93, averaged TRVs of 21%, average MDCs of 15% and systematic and random error between -8 +/- 60% and 12 +/- 36%. Scapular muscle activity assessed in overhead movements can be measured reliably under maximum load conditions, though variability is dependent on the movement phase. Measurement variability does not exceed magnitudes of altered scapular muscle activities as reported in previous studies. Therefore, maximum load application is a promising approach for the evaluation of changes in scapular control related to pathologies. (C) 2017 Elsevier Ltd. All rights reserved.
Altered scapular muscle activity is mostly described under unloaded and submaximal loaded conditions in impingement patients. However, there is no clear evidence on muscle activity with respect to movement phases under maximum load in healthy subjects. Therefore, this study aimed to investigate scapular muscle activity under unloaded and maximum loaded isokinetic shoulder flexion and extension in regard to the movement phase. Fourteen adults performed unloaded (continuous passive motion [CPM]) as well as maximum loaded (concentric [CON], eccentric [ECC]) isokinetic shoulder flexion (Flex) and extension (Ext). Simultaneously, scapular muscle activity was measured by EMG. Root mean square was calculated for the whole ROM and four movement phases. Data were analyzed descriptively and by two-way repeated measures ANOVA. CPMFlex resulted in a linear increase of muscle activity for all muscles. Muscle activity during CONFlex and ECCFlex resulted in either constant activity levels or in an initial increase followed by a plateau in the second half of movement. CPMExt decreased with the progression of movement, whereas CONExt and ECCExt initially decreased and either levelled off or increased in the second half of movement. Scapular muscle activity of unloaded shoulder flexion and extension changed under maximum load showing increased activity levels and an altered pattern over the course of movement.
In the context of back pain, great emphasis has been placed on the importance of trunk stability, especially in situations requiring compensation of repetitive, intense loading induced during high-performance activities, e.g., jumping or landing. This study aims to evaluate trunk muscle activity during drop jump in adolescent athletes with back pain (BP) compared to athletes without back pain (NBP). Eleven adolescent athletes suffering back pain (BP: m/f: n = 4/7; 15.9 +/- 1.3 y; 176 +/- 11 cm; 68 +/- 11 kg; 12.4 +/- 10.5 h/we training) and 11 matched athletes without back pain (NBP: m/f: n = 4/7; 15.5 +/- 1.3 y; 174 +/- 7 cm; 67 +/- 8 kg; 14.9 +/- 9.5 h/we training) were evaluated. Subjects conducted 3 drop jumps onto a force plate (ground reaction force). Bilateral 12-lead SEMG (surface Electromyography) was applied to assess trunk muscle activity. Ground contact time [ms], maximum vertical jump force [N], jump time [ms] and the jump performance index [m/s] were calculated for drop jumps. SEMG amplitudes (RMS: root mean square [%]) for all 12 single muscles were normalized toMIVC (maximum isometric voluntary contraction) and analyzed in 4 time windows (100 ms pre- and 200 ms post-initial ground contact, 100 ms pre- and 200 ms post-landing) as outcome variables. In addition, muscles were grouped and analyzed in ventral and dorsal muscles, as well as straight and transverse trunk muscles. Drop jump ground reaction force variables did not differ between NBP and BP (p > 0.05). Mm obliquus externus and internus abdominis presented higher SEMG amplitudes (1.3-1.9-fold) for BP (p < 0.05). Mm rectus abdominis, erector spinae thoracic/lumbar and latissimus dorsi did not differ (p > 0.05). The muscle group analysis over the whole jumping cycle showed statistically significantly higher SEMG amplitudes for BP in the ventral (p = 0.031) and transverse muscles (p = 0.020) compared to NBP. Higher activity of transverse, but not straight, trunk muscles might indicate a specific compensation strategy to support trunk stability in athletes with back pain during drop jumps. Therefore, exercises favoring the transverse trunk muscles could be recommended for back pain treatment.