Πέμπτη, 18 Οκτωβρίου 2018

Evaluation of Posterosuperior Labral Tear With Shoulder Sonography After Intra-articular Injection

imageNo abstract available

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Mobility Analysis of AmpuTees II: Comorbidities and Mobility in Lower Limb Prosthesis Users

imageObjective The aim of the study was to determine the impact of comorbidities on mobility in patients with lower limb prostheses. Design Cohort database chart review was conducted to examine mobility in lower limb prosthesis users grouped according to comorbidities. Regression models were used to determine significant predictor comorbidities for mobility. General linear univariate models were implemented to investigate differences in mobility among cohorts (N = 596). Results Patient age and history of stroke, peripheral vascular disease, and anxiety/panic disorders were predictors of decreased mobility. After adjusting for covariates, the differences in mobility reported by patients older than 65 yrs was compared with those younger than 65 yrs; in addition, we compared those with a history of peripheral vascular disease with those without. The comparative analyses for both categories did not satisfy the minimal clinically important difference. There were no significant differences when comparing overall comorbid health after adjusting for covariates. Conclusions Clinicians should consider patient age and history of stroke, peripheral vascular disease, or anxiety/panic disorders when optimizing a lower limb prosthesis users' mobility because these variables may be predictive of modest but clinically meaningful decreased prosthetic mobility. By contrast, common comorbid health conditions such as arthritis, chronic obstructive pulmonary disease, congestive heart failure, and diabetes do not seem predictive of decreased mobility among lower limb prosthesis users.

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Evidence-Based Physiatry: Managing Low Back Pain Wisely

No abstract available

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Functional Outcome of Elderly Hip Fracture Patients Is Not Affected By Prefracture Dementia

imageObjective The aim of the study was to examine whether a diagnosis of prefracture dementia (PFD) affects functional outcome at discharge from a geriatric rehabilitation setting. Design A total of 211 consecutive elderly hip fracture patients were evaluated retrospectively. We used the Functional Independence Measure (FIM) and analyzed data by t test, χ2 test, and multiple linear regression analysis. Results Patients with PFD were older (P = 0.001), presented with lower Mini-Mental State Examination scores (P

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Effects of Repetitive Transcranial Magnetic Stimulation on Walking and Balance Function after Stroke: A Systematic Review and Meta-Analysis

imageObjective The aim of this study was to investigate the effects of repetitive transcranial magnetic stimulation (rTMS) on walking and balance function in patients with stroke. Design MEDLINE, EMBASE, CINAHL, PsycINFO, Web of Science, CENTRAL, and the Physiotherapy Evidence Database were comprehensively searched for randomized controlled trials published through March 2017 that investigated the effects of rTMS on lower limb function. Main outcomes included walking speed, balance function, motor function, and cortical excitability. Results Nine studies were included. The meta-analysis revealed a significant effect of rTMS on walking speed (standardized mean difference, 0.64; 95% confidence interval [CI], 0.32–0.95), particularly ipsilesional stimulation (standardized mean difference, 0.80; 95% CI, 0.36–1.24). No significant effects were found for balance function (standardized mean difference, 0.10; 95% CI, −0.26 to 0.45), motor function (mean difference, 0.50, 95% CI: −0.68 to 1.68), or cortical excitability (motor-evoked potentials of the affected hemisphere: mean difference, 0.21 mV; 95% CI, −0.11 to 0.54; motor-evoked potentials of the unaffected hemisphere: mean difference, 0.09 mV; 95% CI, −0.16 to −0.02). Conclusion These results suggest that rTMS, particularly ipsilesional stimulation, significantly improves walking speed. Future studies with larger sample sizes and an adequate follow-up period are required to further understand the effects of rTMS on lower limb function and its relationship with changes in cortical excitability with the help of functional neuroimaging techniques. To Claim CME Credits Complete the self-assessment activity and evaluation online at https://ift.tt/1l80W45 CME Objectives Upon completion of this article, the reader should be able to: 1) Understand the potential neurophysiologic effects of rTMS; 2) Appreciate the potential benefits of rTMS on stroke recovery; and 3) Identify indications for including rTMS in a stroke rehabilitation program. Level Advanced Accreditation The Association of Academic Physiatrists is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The Association of Academic Physiatrists designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.

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Effectiveness of Physiotherapy Interventions on Spasticity in People With Multiple Sclerosis: A Systematic Review and Meta-Analysis

imageObjective The aim of the study was to examine the effectiveness of physiotherapy (PT) interventions on spasticity in people with multiple sclerosis. Design A systematic search was performed using PRISMA guidance. Studies evaluate the effect of PT interventions on spasticity were included. People with multiple sclerosis, spasticity, disability and PT interventions characteristics were extracted in included studies. Level of evidence was synthesized by the Grade of Recommendation, Assessment, Development and Evaluation approach. Meta-analyses were performed by calculating Hedges g at 95% confidence interval. Results A total of 29 studies were included in the review, and 25 were included in the meta-analyses. The included PT interventions were exercise therapy, electrical stimulation, radial shock wave therapy, vibration, and standing. The review and meta-analyses showed different evidences of benefits and nonbenefits for PT interventions on some spasticity outcomes. The best quality evidences were for beneficial effects of exercise therapy especially robot gait training and outpatient exercise programs on self-perceived spasticity and muscle tone respectively. The review results were positive regarding the acute effects, follow-up measurements, safety, progressive MS, and nonambulatory people with multiple sclerosis. The included articles were heterogeneous and badly reported in PT interventions and people with multiple sclerosis characteristics. Conclusions Physiotherapy interventions can be a safe and beneficial option for spasticity in people with multiple sclerosis. No firm conclusion can be drawn on overall spasticity. Further researches in different spasticity aspects are needed.

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Femoral Artery Bypass Graft Pseudoaneurysm Rupture in a Transfemoral Amputee

imageThe case of a patient with an actively bleeding pseudoaneurysm associated with remnants of a polytetrafluoroethylene femoral bypass graft in his transfemoral residual limb is described. Initial graft placement was due to peripheral arterial disease. During subsequent transfemoral amputation, remnants of the nonpatent graft were retained in the residuum. After 4 yrs of lower limb prosthesis use, a proximal anastomosis pseudoaneurysm developed (with avulsion of graft remnants). The patient presented to clinic with a 5-day history of increased left groin fullness and largely nonradiating pain (rated 10/10). He was diagnosed with a pseudoaneurysm (1.9 cm) originating from the left common femoral artery and an associated hematoma (8 cm) on computed tomography; this required emergent reoperation. This case highlights the importance surrounding the decision to leave or explant neovascularization materials, which may carry significant risk for infection or physical disruption complications in residual limbs.

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Nerve Stimulation Enhances Task-Oriented Training for Moderate-to-Severe Hemiparesis 3–12 Months After Stroke: A Randomized Trial

imageObjective The aim of the study was to determine whether somatosensory stimulation affects outcomes of motor training for moderate-to-severe upper limb hemiparesis less than 12 mos before stroke. Design Fifty-five adults participated in 18 intervention sessions pairing 2 hours of active (n = 33) or sham (n = 22) somatosensory stimulation with 4 hours of intensive task-oriented motor training. Wolf Motor Function Test, Action Research Arm Test, Fugl-Meyer Assessment, and Stroke Impact Scale were administered at baseline, postintervention, and 1- and 4-mo follow-up. Results Statistically significant between-groups differences favored the active condition on Wolf Motor Function Test at post (P = 0.04) and Action Research Arm Test at post (P = 0.02), 1 mo (P = 0.01), and 4 mos (P = 0.01) but favored the sham condition on Stroke Impact Scale at 1 mo (P = 0.03). There were no significant between-groups differences on Fugl-Meyer Assessment. Conclusions Somatosensory stimulation can improve objective outcomes of motor training for moderate-to-severe hemiparesis less than 12 mos after stroke, although it needs to be determined whether the magnitude of between-groups differences in this study is clinically relevant. Future studies should investigate the intervention's impact on disability and functional recovery for this population as well as neurophysiological mechanisms underlying intervention effects.

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Ultrasonographic Imaging of the Median Nerve With a Struthers Ligament

imageNo abstract available

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Amount and Socio-Ecological Correlates of Exercise in Men and Women at Cardiac Rehabilitation Completion

imageObjective The aim of the study was to describe (1) the amount of physical activity (PA) in cardiac rehabilitation (CR) graduates by sex, and (2) the correlates of their PA. Design Secondary analysis of baseline data from a randomized trial was undertaken. Graduates were recruited from three CR programs. Participants completed a questionnaire, which assessed constructs from the socio-ecological model (i.e., individual-level, social- and physical-environmental levels). Physical activity was measured objectively using an ActiGraph GT3X accelerometer. Multilevel modeling was performed. Results Two hundred fifty-five patients consented, of which 200 (78.4%) completed the survey and provided valid accelerometer data. Participants self-reported engaging in a mean ± standard deviation of 184.51 ± 129.10 min of moderate-to-vigorous-intensity PA (MVPA) per week (with men engaging in more than women, P

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Poststroke Depression: A Long-Term Problem for Stroke Survivors Erratum

No abstract available

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Influence of Creatine Supplementation on Apoptosis Markers After Downhill Running in Middle-Aged Men: A Crossover Randomized, Double-Blind, and Placebo-Controlled Study

imageObjective Strenuous exercise can induce apoptosis in a variety of tissues. We investigated the effects of creatine loading on apoptosis markers after downhill running. Design Twenty-two middle-aged men were randomly assigned to either a creatine or a placebo group. Crossover design, double-blind controlled supplementation was performed using 20 g/d−1 of creatine or maltodextrin for 7 days. Downhill running (12% incline) at 70% of heart rate maximum for 40 mins was performed on the eighth day. Blood samples were taken on the day before supplementation, after supplementation and after running. Results There were no significant changes in the caspase-3, caspase-9, p53, Bax, and IGF-1 concentrations from presupplementation to postsupplementation in both groups of creatine and placebo (P > 0.05). There were significant increases (P 0.05). Bcl-2 was unchanged in the placebo group but substantially increased (P 0.05). Lactate levels increased similarly in both groups (P

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Physiatry, Pain Management, and the Opioid Crisis: A Focus on Function

imageNo abstract available

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Narrative Medicine in Amyotrophic Lateral Sclerosis and a Rehabilitation Project Based on International Classification of Functioning, Disability and Health

imageObjective The aim of the study was to systematize the disability condition related to amyotrophic lateral sclerosis patients using the International Classification of Functioning, Disability and Health (ICF) and narrative medicine approach as a common tool to identify a patient's functional problems. Once identified, this can be used as the basis for an individual rehabilitation project. Design This is an observational study on patients residing in a central region of Italy with a diagnosis of amyotrophic lateral sclerosis. The narrative approach involved listening to the patients' stories while guiding them with a semistructured questionnaire of 19 ICF items taken from the WHO Disability Assessment Schedule. A score from 0 to 4 for capacity (C) and performance (P) was adopted to evaluate each patient's functioning in their daily living activities. Results The ICF questionnaire was able to discriminate among responders (P

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Ultrasound Imaging for Muscle Variations: Digastric Flexor Carpi Ulnaris, Gastrocnemius Tertius, and Supernumerary Fibularis Longus in an Asymptomatic Family

imageAnatomical variations of the muscles are seen with different frequencies. Although most of them are asymptomatic; in certain cases, their existence requires attention with regard to entrapment syndromes, mass lesions, botulinum toxin injections, and tendon transfers. Herein, as ultrasound imaging is a convenient method for muscle imaging, it can easily be used in daily practice for prompt understanding of such muscular variations. In this report, we demonstrated and discussed a similar scenario in an asymptomatic individual (and his close family members) using ultrasound imaging for scanning the digastric flexor carpi ulnaris, gastrocnemius tertius, and supernumerary fibularis longus muscles.

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Functional Impairments Associated With Patient Activation Among Community-Dwelling Older Adults

imageObjectives Activity of daily living stages and instrumental activity of daily living stages demonstrated ordered associations with mortality, risk of hospitalization, and receipt of recommended care. This article explores the associations of stages with the following three dimensions of patient activation: self-care efficacy, patient-doctor communication, and health-information seeking. We hypothesized that higher activity of daily living and instrumental activity of daily living stages (greater limitation) are associated with a lower level of patient activation. Methods Patient activation factors were derived from the 2004 and 2009 Medicare Current Beneficiary Survey. In this cross-sectional study (N = 8981), the associations of activity limitation stages with patient activation factors were assessed in latent factor models. Results Greater activity limitation was in general inversely associated with self-efficacy, patient-doctor communication, and health information seeking, even after adjusting for sociodemographic and clinical characteristics. For instance, the mean of self-care efficacy across activity of daily living stages I–IV (mild, moderate, severe, and complete limitation) compared with stage 0 (no limitation) decreased significantly by 0.17, 0.29, 0.34, and 0.60, respectively. Covariates associated with suboptimal patient activation were also identified. Discussion Our study identified multiple opportunities to improve patient activation, including providing support for older adults with physical impairments, at socioeconomic disadvantages, or with psychological or cognitive impairment.

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Response to the Letter to the Editor on the Article “Evaluation of Posterosuperior Labral Tear With Shoulder Sonography After Intra-articular Injection”

No abstract available

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The Prevalence of Scoliosis in Spina Bifida Subpopulations: A Systematic Review

imagePrevalence of scoliosis within spina bifida subpopulations is important for diagnostics and therapeutic purposes. This review determined the prevalence of scoliosis within spina bifida subpopulations by means of a systematic literature review by using the following databases: Medline PubMed, Embase, Cochrane, and Pedro. All Dutch- and English-written literature using the MESH terms "spinal dysraphism," "neural tube defects," and "scoliosis" was analyzed using the exclusion criteria: animal studies, case reports, studies regarding the prevalence of spina bifida among patients with scoliosis, studies with inclusion of patients with scoliosis of less than 11 degrees without possibility to identify subgroups with scoliosis of greater than 10 degrees, studies without an own study group, articles comprising the same patient group as another article, neural tube defects besides spina bifida, and articles without specification of spina bifida subtype. It resulted in six articles, two concerning diastematomyelia (103 patients, 82 females and 21 males) and four about myelomeningocele (479 patients, 283 females and 196 males) with an overall weighted prevalence of scoliosis (20-degree Cobb angle cutoff) of 44.4% and 52.5%, respectively. It can be concluded that most studies have a lot of methodological flaws, so there is a need for further research with standardization of data collection to allow comparison of different data.

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Herniation of Hoffa's Fat Pad Through the Lateral Retinaculum: Usefulness of Dynamic Ultrasonography to Diagnose a Lateral Knee Mass

imageNo abstract available

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Regional Vastus Medialis and Lateralis Activation in Females with Patellofemoral Pain

Introduction To investigate whether regional activation patterns in the vasti muscles differ between females with and without patellofemoral pain (PFP), and whether muscle activation patterns correlate with knee extension strength. Methods Thirty-six females with PFP and 20 pain-free controls performed a standardized knee flexion-extension task. Activation of vastus medialis (VM) and lateralis (VL) was collected using high-density surface electromyography and analyzed using Principal component (PC) analysis. Spatial locations and temporal coefficients of the PCs, and percent variance they explain were compared between groups and between the concentric and eccentric phases of the movement. Correlations were assessed between PC features and knee extension strength. Results The spatial weights of PC1 (general vasti activation) and PC2 (reflecting vastus-specific activation) were similar between groups (R>0.95). Activation patterns in PFP were less complex than controls. Fewer PCs were necessary to reconstruct 90% of the signal for PFP participants in the concentric phase (p

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Exercise-induced Changes in Soluble ST2 Concentrations in Marathon Runners

Purpose Previous studies have suggested that extreme endurance exercise may induce cardiac micro-damage that could lead to subsequent myocardial fibrosis. Soluble suppression of tumorigenicity (sST2) is a cardiac biomarker for assessment of myocardial fibrosis, inflammation and strain. We evaluated baseline and exercise-induced sST2 concentrations in a heterogeneous cohort of marathon runners to identify predictors for sST2 concentrations. Methods Ninety-two runners supplied demographic data, health status, physical activity levels and marathon experience. Before (baseline) and immediately after (finish) the marathon blood was drawn for analysis of sST2 and cTnI. Results Eighty-two participants (45±8 yrs, 79% male) finished the race in 227±28 min at 92 [88-94]% of their predicted maximum heart rate (exercise intensity). sST2 concentrations increased in all runners, from 34 [25-46] ng/ml to 70 [53-87] ng/ml (p<.001 and ctni increased from ng to sst2 concentrations were higher in the fastest marathon runners. sex personal best time associated with baseline weight loss exercise intensity during finish height weekly training hours exercise-induced increase we observed no association between concentrations. conclusion an was all runners exceeding cut-off values both at faster had our data suggest complex variables determine author for correspondence: vincent aengevaeren department of physiology radboud university medical center p.o. box hb nijmegen netherlands tel fax e-mail: vincent.aengevaeren v.l.a is financially supported by a grant institute health sciences. j.l.j partially hutter family professorship. t.m.h.e horizon european commission sklodowska-curie fellowship would like thank critical diagnostics analyses samples. conflict interest: j.v.s. chief scientific officer president diagnostics. results present study do not constitute endorsement acsm. declare that are presented clearly honestly without fabrication falsification or inappropriate manipulation. accepted publication: october american college sports medicine>

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The 24-Hour Activity Cycle: A New Paradigm for Physical Activity

The physiologic mechanisms by which the four activities of sleep, sedentary behavior, light-intensity physical activity (LIPA), and moderate-to-vigorous physical activity (MVPA) affect health are related, but these relationships have not been well explored in adults. Research studies have commonly evaluated how time spent in one activity affects health. Because one can only increase time in one activity by decreasing time in another, such studies cannot determine the extent that a health benefit is due to one activity versus due to reallocating time among the other activities. For example, interventions to improve sleep possibly also increase time spent in MVPA. If so, the overall effect of such interventions on risk of premature mortality is due to both more MVPA and better sleep. Further, the potential for interaction between activities to affect health outcomes is largely unexplored. For example, is there a threshold of MVPA minutes per day, above which adverse health effects of sedentary behavior are eliminated? This paper considers the 24-Hour Activity Cycle (24-HAC) model as a paradigm for exploring inter-relatedness of health effects of the four activities. It discusses how to measure time spent in each of the four activities, as well as the analytical and statistical challenges in analyzing data based upon the model, including the inevitable challenge of confounding among activities. The potential usefulness of this model is described by reviewing selected research findings that aided in the creation of the model and discussing future applications of the 24-HAC model. Corresponding Author: Mary Rosenberger, PhD. Mailing Address: Stanford Center on Longevity, Littlefield Center, 365 Lasuen Street, Stanford, CA 94305, Phone: 650-804-0843, Email: maryr@stanford.edu Disclaimer: The findings and conclusions of this report are those of the authors and do not necessarily represent the official position of the National Institutes of Health or the Centers for Disease Control and Prevention. Dr. Grandner is supported by a grant from the National Institute on Minority Health and Health Disparities (R01MD011600) and the Department of Defense (W81XWH-17-0088). The results of this review are presented clearly, honestly and without fabrication, falsification or inappropriate data manipulation. This review does not constitute endorsement by ACSM. Accepted for Publication: 9 October 2018 © 2018 American College of Sports Medicine

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Insights into cognitive pupillometry: Evaluation of the utility of pupillary metrics for assessing cognitive load in normative and clinical samples

Publication date: Available online 17 October 2018

Source: International Journal of Psychophysiology

Author(s): Jamie N. Hershaw, Mark L. Ettenhofer

Abstract

Despite increasing use of pupillometry to understand cognitive deficits in clinical populations, there is no consensus on what pupillary metrics are most useful. In this study, we compare the reliability, sensitivity to mild traumatic brain injury (TBI) and cognitive load differences, and the likelihood of replication between various pupillary metrics. Raw pupil diameter was recorded from 15 patients with chronic mild TBI and 23 uninjured controls while they performed a cognitive task with three levels of cognitive load. Several pupillary metrics were quantified from the pupillary data and submitted to tests of internal consistency, group ∗ cognitive load repeated measures ANOVAs, and bootstrapping analyses of effect size. Most pupillary metrics demonstrated acceptable, good, or excellent reliability. Metrics differed in sensitivity to group, cognitive load, and their interaction. Bootstrapping analyses revealed that peak-based metrics are more likely to replicate than means- or ratio-based metrics. Several pupillary metrics were determined to have great utility for measuring cognitive load in clinical or normative samples. This study directly addresses a known methodological gap in the cognitive pupillometry literature.



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The influence of the global/local probability effect on the neural processing of cues and targets. A functional systems approach

Publication date: Available online 17 October 2018

Source: International Journal of Psychophysiology

Author(s): Antonio Arjona, Elena Rodríguez, Manuel Morales, Carlos M. Gómez

Abstract

Global and local probability effects were explored in a visuo-auditory version of the central cue Posner's paradigm through the analysis of the neural Event-Related Potentials (ERPs) generated in the interaction between validity sequence effects (local probability) and block validity effects (global probability). Four behavioral measures (response times, correct/incorrect anticipations, and incorrect responses), three pre-target ERPs (visual P1/N1 and Contingent Negative Variation (CNV)), and six post-target ERPs (auditory N1, P2, Processing Negativity (PN), P3a, P3b and Late Slow Positivity (LSP)) were considered. Four types of trial-sequences (Valid-Valid, Invalid-Valid, Invalid-Invalid, Valid-Invalid) and three types of trial-blocks, with different validity/invalidity proportions (50%, 68%, and 86% of valid trials), were employed. Present data replicate previous reports on the validity sequence effects on ERPs (local probability): (i) higher CNV on trials preceded by valid trials; (ii) higher PN on valid trials preceded by invalid trials compared to valid trials preceded by valid trials; and (iii) higher P3a/P3b and LSP on invalid trials preceded by valid trials compared to invalid trials preceded by invalid trials. In summary, local probability showed more effects modulating the brain responses than global probability and/or their interaction. Among a number of other hypotheses, the functional systems theory would account for the ability of the previous trial to modify processing in the current trial.



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Capsule endoscopy in suspected Small Bowel Crohn’s disease — Is it worth repeating a negative study?



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Capsule endoscopy in suspected Small Bowel Crohn’s disease — Is it worth repeating a negative study?



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EVIDENCE OF IMPAIRED PAIN MODULATION IN ADOLESCENTS WITH IDIOPATHIC SCOLIOSIS AND CHRONIC BACK PAIN

Although 40% of adolescent idiopathic scoliosis (AIS) patients present with chronic back pain, the pathophysiology and underlying pain mechanisms remain poorly understood. We hypothesized that development of chronic pain syndrome in AIS is associated with alterations in pain modulatory mechanisms.

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Regional Bone Mineral Density Differences measured by QCT: Does the Standard Clinically Used L1-L2 Average Correlate with the Entire Lumbosacral Spine?

Quantitative computed tomography (QCT) of the lumbar spine is used as an alternative to dual-energy X-ray absorptiometry in assessing bone mineral density (BMD). The average BMD of L1-L2 is the standard reportable metric used for diagnostic purposes according to current recommendations. The density of L1 and L2 has also been proposed as a reference value for the remaining lumbosacral vertebrae and is commonly used as a surrogate marker for overall bone health. Since regional BMD differences within the spine have been proposed, it is unclear if the L1-L2 average correlates with the remainder of the lumbosacral spine.

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PerSys Medical to exhibit at EMS World Expo Booth #934

Visit us at EMS World Expo Booth #934 to see our life saving innovations! PerSys Medical will be exhibiting at EMS World. PerSys Medical develops and brings to market life-saving innovations for vascular access, hemorrhage control, hypothermia prevention and airway management. We provide emergency medical solutions for military and civilian markets, such as EMS, law enforcement, hospital and...

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Engaged supervisors set the tone for employee retention

Using LEAD principles, EMS leaders can encourage employee retention at their organizations

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Making your EAP work for your employees

Dr. Sara Gilman discusses the importance of an Employee Assistance Program that is tailored to the needs of first responders and their unique experience serving the public

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Issue Information

Asian Journal of Endoscopic Surgery, Volume 11, Issue 4, Page 285-290, November 2018.


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Spinal control of muscle synergies for adult mammalian locomotion

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Evidence against a crucial role of renal medullary perfusion in blood pressure control of hypertensive rats

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Issue Information

Psychophysiology, Volume 55, Issue 11, November 2018.


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Pathophysiological Mechanisms Linking F-box only Protein 7 (FBXO7) and Parkinson’s disease (PD)

Publication date: Available online 17 October 2018

Source: Mutation Research/Reviews in Mutation Research

Author(s): Zhi Dong Zhou, Ji Chao Tristan Lee, Eng King Tan

Abstract

Mutations of F-box only protein 7 (FBXO7) gene are associated with a severe form of autosomal recessive juvenile Parkinson's disease (PD) (PARK15) with clinical features of Parkinsonian-Pyramidal syndrome (PPS). FBXO7 is an adaptor protein in SCFFBXO7 ubiquitin E3 ligase complex that recognizes and mediates degradative or non-degradative ubiquitination of substrates. The FBXO7 protein can regulate cell cycle, proliferation, mitochondrial and proteasome functions via interactions with multiple target proteins. Five PARK15-linked FBXO7 gene mutations and several PD-associated single nucleotide polymorphisms (SNP) have been identified so far. WT FBXO7 proteins possess dual protective and deleterious functions, whereas PARK15-linked FBXO7 mutants are toxic. FBXO7 is a stress response protein and stress challenges can promote translocation of FBXO7 protein from nucleus into mitochondria and even form deleterious protein aggregate in mitochondria. FBXO7 mutants aggravate protein aggregation in mitochondria and inhibit mitophagy. The pathological mechanisms concerning FBXO7-relevant protein aggregation, mitochondria impairment, reactive oxygen species (ROS) generation and mitophagy modulation in PARK15 pathogenesis are highlighted and discussed in the current review.



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Pharmacogenetic variants and response to neoadjuvant single-agent doxorubicin or docetaxel: a study in locally advanced breast cancer patients participating in the NCT00123929 phase 2 randomized trial

imageObjectives Taxanes and anthracyclines are widely used in the treatment of breast cancer, although the benefit is limited to a proportion of patients and predictive biomarkers for clinical outcome remain elusive. Patients and methods We carried out a pharmacogenetic study in 181 patients with locally advanced breast cancer enrolled in a phase 2 randomized clinical trial (NCT00123929), where patients were randomly assigned to receive neoadjuvant single-agent docetaxel 100 mg/m2 (n=84) or doxorubicin 75 mg/m2 (n=97). We studied the association of 226 single nucleotide polymorphisms (SNPs) in 15 key drug biotransformation genes with neoadjuvant pathological tumor response residual cancer burden index to docetaxel and to doxorubicin. Results We identified a significant association for rs162561, an intronic SNP located in the cytochrome P450 family 1 subfamily B member 1 (CYP1B1) gene, with tumor response in patients treated with single-agent docetaxel (dominant model: β=1.02, 95% confidence interval=0.49–1.55; P=1.77×10−4), and for rs717620, an SNP located in the promoter of the ATP-binding cassette subfamily C member 2 (ABCC2) gene, in patients treated with neoadjuvant doxorubicin (recessive model: β=1.67; 95% confidence interval=0.26–3.11; P=0.02). Conclusion We identified two polymorphisms in CYP1B1 and ABCC2 associated with tumor pathological response following docetaxel or doxorubicin neoadjuvant monotherapy, respectively. Although further validation is required, these variants could be potential predictive genetic markers for treatment outcome in breast cancer patients.

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Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide

imageChromosome 12q15 was identified in Genetic Epidemiology of Response Assessment (GERA) and replicated in Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) for its association with blood pressure (BP) response to hydrochlorothiazide (HCTZ). However, the functional variant is unknown and we aimed to identify the likely functional variants through targeted sequencing. The chromosome 12q15 region was sequenced in 397 best and worst responders to HCTZ in PEAR (N=199) and GERA (N=198) hypertensive study participants. Logistic regression was used for the association analysis adjusting for age, sex, race, and principal components 1 and 2. For validation, the significant single nucleotide polymorphism was tested for association with the change in systolic (ΔSBP) and diastolic BP (ΔDBP) post-treatment in the entire PEAR (N=370) and GERA (N=570) cohorts. A novel missense polymorphism (G>A, Pro383Leu) in BEST3, rs61747221, was significantly associated with better HCTZ response (P=0.0021, odds ratio=2.05). It was validated in the entire cohort of PEAR (ΔSBP: P=0.021, β=−1.60, ΔDBP: P=0.023, β=−1.08) and GERA (ΔSBP: P=0.028, β=−1.95, ΔDBP: P=0.032, β=−1.28). BEST3 encodes the calcium sensitive chloride channel in the vascular smooth muscle implicated in the regulation of BP, especially in response to vasoconstrictors like angiotensin II. These results suggest that BEST3 is involved in the chronic BP lowering mechanism of thiazides and highlight its importance as a genetic predictor of the BP response to thiazide diuretics.

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Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients

imageAsthma is the leading chronic disease in children. Several studies have identified genetic biomarkers associated with susceptibility and severity in both adult and pediatric cases. In this study, we evaluated outcomes in 400 African American and European American pediatric cases all of whom were regular users of inhaled corticosteroids. Patients were stratified by genotype using two single nucleotide polymorphisms in the β-2-adrenergic receptor (ADRB2) gene – rs1042713 and rs1042714, previously associated with asthma outcome. These correspond to nonsynonymous single nucleotide polymorphisms at positions 16 [arginine to glycine (Arg16Gly); rs1042713] and 27 [glutamic acid to glutamine (Glu27Gln); rs1042714], which are relatively common (minor allele frequencies ∼40–50%), and have been well characterized in asthma pharmacogenetics. We controlled for adherence to the National Heart, Lung and Blood Institute guidelines using deep mining of electronic health record data to determine treatment course. We found no significant effect for rs1042713 (Arg16Gly) but did identify an effect for rs1042714, where participants homozygous for Gln27 had increased exacerbations while taking inhaled corticosteroids in comparison with those who were either heterozygous or homozygous for Glu27. This is consistent with previous studies and demonstrates for the first time that the Glu27 variant in the ADRB2 gene is associated with increased frequencies of asthma exacerbations. Moreover, this study also lends an important proof-of-principle on how electronic health records linked to genotype can be efficiently and systematically mined to delineate health outcomes.

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Unilateral head rotation as an effective swallowing compensation method in dysphagia related to anterior cervical spine osteophyte

No abstract available

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A Technical Note for Ultrasound Imaging of the Peripheral Nerve Mass Lesions

No abstract available

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Evidence-Based Physiatry: The CDC Guideline on Pediatric Mild Traumatic Brain Injury and the Expanded Role of Physiatry

No abstract available

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The effect of pelvic floor muscle contraction on detrusor overactivity pressure in neurogenic and non-neurogenic women during urodynamic study: a cross-sectional study

Objective The aim of this study was to investigate if detrusor overactivity (DO) can be influenced by a pelvic floor muscle (PFM) contraction in multiple sclerosis-associated overactive bladder (MS) and idiopathic overactive bladder (OAB) volunteers and compare urodynamic findings between the two groups. Design Eighteen women with MS and seventeen women with OAB responded the OAB-V8 questionnaire and performed urodynamic study (UDS) with electromyography of PFM to confirm the presence of a 15-seconds PFM contraction during a DO, when present. Variables were: OAB-V8 questionnaire, maximum cystometric capacity, volume at first DO, maximum DO amplitude and percentage of DO pressure reduction. Results All participants had a reduction in DO pressure when PFM contraction was requested. MS group showed significant higher DO amplitude than OAB group (p=0.02). OAB group had their DO pressure reduced in a greater extent when compared to MS group (p=0.01). Conclusion The results suggest that PFM contraction is able to reduce DO pressure in MS and OAB population. Corresponding author's contact information: Name: Adelia Lucio, Email address:adeliaclucio@gmail.com, Mailing address: R. Vital Brasil, 250 - Cidade Universitária Zeferino Vaz, Distrito de Barão Geraldo. Serviço de Urologia - Hospital das Clínicas Unicamp, 2°andar, A2 – sala 108. Campinas, SP, Brasil. Zip code: 13083-590. Telephone/Fax number: +55-19-3521-7481. Author Disclosures: Competing Interests: None a. Funding: Financial support was provided by FAPESP (Grant N° 2010/51656-5). b. Financial benefits to the authors: None c. Details of any previous presentation of the research, manuscript, or abstract in any form: None. Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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Editorial Board

Publication date: November 2018

Source: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, Volume 1861, Issue 11

Author(s):



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m6A-mediated translation regulation

Publication date: Available online 17 October 2018

Source: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms

Author(s): Kate D. Meyer



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Step width and frontal plane trunk motion in bipedal chimpanzee and human walking

Publication date: December 2018

Source: Journal of Human Evolution, Volume 125

Author(s): Nathan E. Thompson, Matthew C. O'Neill, Nicholas B. Holowka, Brigitte Demes

Abstract

Human bipedalism is characterized by mediolateral oscillations of the center of mass (CoM) between the feet. The preferred step widths and CoM oscillations used by humans likely represent a trade-off of several factors (e.g., stance and swing phase costs). However, it is difficult to assess whether human frontal plane control strategies are unique given few detailed data on frontal plane motion during facultative bipedalism in apes. Here, we collected three-dimensional kinematic and kinetic data in humans and chimpanzees to investigate the relationship between step width, mediolateral CoM motion, frontal plane trunk kinematics, and CoM power during bipedalism. Chimpanzee bipedalism entails mediolateral CoM oscillations and step widths that are (scaled to lower/hind limb length) three times larger than those of humans. Chimpanzees use a combination of linear and angular motion of the trunk and list the entire trunk, and especially thorax, over the stance side foot, generating large mediolateral shifts in the CoM, whereas humans utilize little angular motion within the trunk. Larger mediolateral CoM motions do not have a significant effect on CoM power. Similarities between bipedal chimpanzees and other bipedal non-human primates (macaques and gibbons) indicate that narrow CoM motions are unique to humans and are likely due to our adducted hips and valgus knees. Valgus knees appear early in the human fossil record (∼3.6 Ma), contemporaneous with the Laetoli footprints. However, fossils attributed to Ardipithecus ramidus (∼4.4 Ma) suggest that the earliest hominins may have lacked a hominin-like degree of knee valgus. If correct, this suggests that this species may have used wide steps, larger mediolateral CoM motions, and perhaps larger trunk motions during bipedal walking. Finally, we present a novel means to estimate mediolateral CoM motion from trackway step width, and estimate that the Laetoli G track maker used CoM motions within the human range.



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Metformin use and gastric cancer risk in diabetic patients after helicobacter pylori eradication

Journal of the National Cancer Institute

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Colder weather and fewer sunlight hours increase alcohol consumption and alcoholic cirrhosis worldwide

Hepatology

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Serum metabolites as diagnostic biomarkers for cholangiocarcinoma, hepatocellular carcinoma and primary sclerosing cholangitis

Hepatology

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Case of intercostal lung hernia with hemosputum that developed after thoracoscopic lobectomy

Asian Journal of Endoscopic Surgery, EarlyView.


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Oxytocin can regulate myometrial smooth muscle excitability by inhibiting the Na± activated K± channel, Slo2.1

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Don't stop at the top: Plasma volume expansion and pulmonary vasodilation restore left ventricular function at rest but not during exercise at high altitude

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Increased endothelial shear stress improves insulin‐stimulated vasodilation in skeletal muscle

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Integrated genetic, epigenetic, and gene set enrichment analyses identify NOTCH as a potential mediator for PTSD risk after trauma: Results from two independent African cohorts

Psychophysiology, EarlyView.


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A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24

American Journal of Medical Genetics Part A, EarlyView.


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A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation

American Journal of Medical Genetics Part A, EarlyView.


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Determining day‐to‐day human variation in indirect calorimetry using Bayesian decision theory

Experimental Physiology, EarlyView.


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Purinergic modulation of chemosensory drive to breathe from the lateral hypothalamus/perifornical area depends upon sleep‐wake and light‐dark phases

Experimental Physiology, Volume 0, Issue ja, -Not available-.


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A comparison of midazolam and zolpidem as oral premedication in children, a prospective randomized double‐blinded clinical trial

Pediatric Anesthesia, EarlyView.


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