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1.
Rev Sci Instrum ; 93(12): 123513, 2022 Dec 01.
Article in English | MEDLINE | ID: mdl-36586930

ABSTRACT

Low- and mid-mode perturbations are possible candidates for performance limitations in cryogenic direct-drive implosions on the OMEGA laser at the Laboratory of Laser Energetics. Simulations with a 3D hydrocode demonstrated that hotspot imagers do not show evidence of the shell breakup in the dense fuel. However, these same simulations revealed that the low- and mid-mode perturbations in the dense fuel could be diagnosed more easily in the post-stagnation phase of the implosion by analyzing the peak in the x-ray emission limb at the coronal-fuel interface than before or at the stagnation phase. In experiments, the asymmetries are inferred from gated images of the x-ray emission of the implosion by using a 16-pinhole array imager filtered to record x-ray energies >800 eV and an x-ray framing camera with 40-ps time integration and 20-µm spatial resolution. A modal analysis is applied to the spatial distribution of the x-ray emission from deuterium and tritium cryogenic implosions on OMEGA recorded after the bang time to diagnose the low- and mid-mode asymmetries, and to study the effect that the beam-to-target ratio (Rb/Rt) has on the shell integrity.

2.
Rev Sci Instrum ; 93(9): 093507, 2022 Sep 01.
Article in English | MEDLINE | ID: mdl-36182458

ABSTRACT

A knock-on deuteron imager (KoDI) has been implemented to measure the fuel and hotspot asymmetry of cryogenic inertial confinement fusion implosions on OMEGA. Energetic neutrons produced by D-T fusion elastically scatter ("knock on") deuterons from the fuel layer with a probability that depends on ρR. Deuterons above 10 MeV are produced by near-forward scattering, and imaging them is equivalent to time-integrated neutron imaging of the hotspot. Deuterons below 6 MeV are produced by a combination of side scattering and ranging in the fuel, and encode information about the spatial distribution of the dense fuel. The KoDI instrument consists of a multi-penumbral aperture positioned 10-20 cm from the implosion using a ten-inch manipulator and a detector pack at 350 cm from the implosion to record penumbral images with magnification of up to 35×. Range filters and the intrinsic properties of CR-39 are used to distinguish different charged-particle images by energy along the same line of sight. Image plates fielded behind the CR-39 record a 10 keV x-ray image using the same aperture. A maximum-likelihood reconstruction algorithm has been implemented to infer the source from the projected penumbral images. The effects of scattering and aperture charging on the instrument point-spread function are assessed. Synthetic data are used to validate the reconstruction algorithm and assess an appropriate termination criterion. Significant aperture charging has been observed in the initial experimental dataset, and increases with aperture distance from the implosion, consistent with a simple model of charging by laser-driven EMP.

3.
Earth Space Sci ; 8(7): e2020EA001634, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34435081

ABSTRACT

The ACT-America project is a NASA Earth Venture Suborbital-2 mission designed to study the transport and fluxes of greenhouse gases. The open and freely available ACT-America data sets provide airborne in situ measurements of atmospheric carbon dioxide, methane, trace gases, aerosols, clouds, and meteorological properties, airborne remote sensing measurements of aerosol backscatter, atmospheric boundary layer height and columnar content of atmospheric carbon dioxide, tower-based measurements, and modeled atmospheric mole fractions and regional carbon fluxes of greenhouse gases over the Central and Eastern United States. We conducted 121 research flights during five campaigns in four seasons during 2016-2019 over three regions of the US (Mid-Atlantic, Midwest and South) using two NASA research aircraft (B-200 and C-130). We performed three flight patterns (fair weather, frontal crossings, and OCO-2 underflights) and collected more than 1,140 h of airborne measurements via level-leg flights in the atmospheric boundary layer, lower, and upper free troposphere and vertical profiles spanning these altitudes. We also merged various airborne in situ measurements onto a common standard sampling interval, which brings coherence to the data, creates geolocated data products, and makes it much easier for the users to perform holistic analysis of the ACT-America data products. Here, we report on detailed information of data sets collected, the workflow for data sets including storage and processing of the quality controlled and quality assured harmonized observations, and their archival and formatting for users. Finally, we provide some important information on the dissemination of data products including metadata and highlights of applications of ACT-America data sets.

4.
Phytopathology ; 110(2): 406-417, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31535924

ABSTRACT

Heterodera glycines, the soybean cyst nematode, and Macrophomina phaseolina, causal agent of charcoal rot, are economically important soybean pathogens. The impact and effect of these pathogens on soybean yield in coinfested fields in the Midwest production region is not known. Both pathogens are soilborne, with spatially aggregated distribution and effects. Spatial regression analysis, therefore, is an appropriate method to account for the spatial dependency in either the dependent variable or regression error term from data produced in fields naturally infested with H. glycines and M. phaseolina. The objectives of this study were twofold: to evaluate the combined effect of H. glycines and M. phaseolina on soybean yield in naturally infested commercial fields with ordinary least squares and spatial regression models; and to evaluate, under environmentally controlled conditions, the combined effect of H. glycines and M. phaseolina through nematode reproduction and plant tissue fungal colonization. Six trials were conducted in fields naturally infested with H. glycines and M. phaseolina in Ohio. Systematic-grid sampling was used to determine the population densities of H. glycines and M. phaseolina, and soybean yield estimates. Though not used in any statistical analysis, M. phaseolina colony forming units from plant tissue, charcoal rot severity, and H. glycines type were also recorded and summarized. In two greenhouse experiments, treatments consisted of H. glycines alone, M. phaseolina alone, and coinfestation of soybean with both pathogens. Moran's I test indicated that the yield from five fields was spatially correlated (P < 0.05) and aggregated. In these fields, to account for spatial dependence, spatial regression models were fitted to the data. Spatial regression analyses revealed a significant interaction effect between H. glycines and M. phaseolina on soybean yield for fields with high initial population densities of both pathogens. In the greenhouse experiments, H. glycines reproduction was significantly (P < 0.05) reduced in the presence of M. phaseolina; however, soybean tissue fungal colonization was not affected by the presence of H. glycines. The direct mechanisms by which H. glycines and M. phaseolina interact were not demonstrated in this study. Future studies must be conducted in the field and greenhouse to better understand this interaction effect.


Subject(s)
Glycine max , Tylenchoidea , Animals , Ohio , Plant Diseases , Spatial Regression
5.
Physiotherapy ; 106: 111-118, 2020 03.
Article in English | MEDLINE | ID: mdl-30992157

ABSTRACT

BACKGROUND: The Cystic Fibrosis Trust recently published a standards of care document which stated that patients should be given a physical activity (PA) programme based on their motivations, fitness, and willingness to be active. However, there remains much debate regarding the roles and responsibilities for PA promotion, as well as "optimal" recommendations and advice. This study aimed to qualitatively explore cystic fibrosis (CF) multidisciplinary teams (MDTs) advice, recommendations and practices relating to PA promotion for adolescents with CF. METHOD: Semi-structured interviews were conducted with fifteen members of CF MDTs (11 physiotherapists, two dieticians and two paediatricians). Thematic analysis was used to analyse the data. RESULTS: Major themes identified were: (1) structure of MDTs, (2) recommendations relating to intensities, durations and types of PA, and (3) use of exercise testing. Participants reported variation between MDTs in terms of who is responsible for promoting and supporting PA, the nature of advice given to patients, and the use of exercise testing. Participants consistently lacked confidence in their own or others' knowledge to provide standardised recommendations to patients and highlighted that PA promotion and support was often overlooked during busy periods. CONCLUSIONS: Despite its importance, PA support and promotion is not always prioritised. MDTs lack confidence in their ability to promote PA. Standardised advice and training relating to optimal intensities, durations and types of PA would provide a baseline from which to individualise advice to each patient and could increase confidence in PA promotion among MDTs.


Subject(s)
Cystic Fibrosis/therapy , Exercise , Health Knowledge, Attitudes, Practice , Health Promotion , Patient Care Team , Standard of Care , Adolescent , Humans , Qualitative Research , United Kingdom
6.
BMC Pulm Med ; 19(1): 220, 2019 Nov 26.
Article in English | MEDLINE | ID: mdl-31771568

ABSTRACT

BACKGROUND: Physical activity is recommended in the management of cystic fibrosis (CF). The aim of this study was to explore motives, barriers and enablers to physical activity among this population. METHODS: Twelve participants (12-18 years) were recruited via convenience sampling. Photo-elicitation alongside semi-structured interviews were used to explore participants' views and experiences of physical activity. RESULTS: Our findings revealed motives for physical activity including health, enjoyment and autonomy. Those with families who valued physical activity tended to have positive attitudes towards physical activity, and valued and integrated it into their lives. Moreover, they were likely to be intrinsically motivated to be active. Several factors enable and act as barriers to physical activity. Whilst CF influenced physical activity, the majority of enablers and barriers raised where congruent with the general populations. CONCLUSION: This study provides support that healthcare providers should encourage both young people with CF and their families to be active, and subsequently informs the development of clinical interventions to support physical activity among young people with CF and their families.


Subject(s)
Attitude to Health , Cystic Fibrosis/psychology , Cystic Fibrosis/rehabilitation , Exercise , Motivation , Adolescent , Attitude of Health Personnel , Child , Female , Humans , Interviews as Topic , Male , Patient Compliance , Qualitative Research , United Kingdom
8.
J Neurosci Methods ; 291: 131-140, 2017 11 01.
Article in English | MEDLINE | ID: mdl-28827165

ABSTRACT

INTRODUCTION: Cerebral blood flow velocity (CBFv) changes occurring with cognitive stimulation can be measured by Transcranial Doppler ultrasonography (TCD). The aim of this study was to assess the reproducibility of CBFv changes to the Addenbrooke's cognitive examination (ACE-III). NEW METHOD: 13 volunteers underwent bilateral TCD (middle cerebral artery), continuous heart rate (HR, 3-lead ECG, Finometer), beat-to-beat mean arterial pressure (MAP, Finometer), and end-tidal CO2 (ETCO2, capnography). After 5min baseline, all ACE-III tasks were performed in 3 domains (A/B/C). Data presented are population CBFv peak normalised changes and area under the curve (AUC). Statistical analysis was by 2-way repeated measures (ANOVA), intra-class correlation coefficient (ICC), standard error of measurement (SEM) and coefficient of variation (CV). RESULTS: 12 bilateral data sets were obtained (10 right hand dominant, 6 female). Baseline parameters (MAP, HR, ETCO2) did not differ between visits. All tasks increased CBFv. Only domain A on AUC analysis differed significantly on ANOVA, and one task on post hoc testing (p <0.05). ICC values were poor (<0.4) for most tasks, but 3 tasks produced more consistent results on AUC and peak CBFv analysis (range ICC: 0.15-0.73, peak CV: 16.2-56.1(%), AUC CV: 23.2-60.2(%), peak SEM: 2.5-6.0 (%), AUC SEM: 21.8-135.8 (%*s). COMPARISON WITH EXISTING METHODS: This is the first study to examine reproducibility of CBFv changes to a complete cognitive assessment tool. CONCLUSIONS: Reproducibility of CBFv measurements to the ACE-III was variable. AUC may provide more reliable estimates than peak CBFv responses. These data need validating in patient populations.


Subject(s)
Brain/diagnostic imaging , Brain/physiology , Cognition/physiology , Functional Neuroimaging , Neuropsychological Tests , Ultrasonography, Doppler, Transcranial , Adult , Analysis of Variance , Area Under Curve , Blood Flow Velocity/physiology , Blood Pressure/physiology , Cerebrovascular Circulation/physiology , Female , Functional Neuroimaging/methods , Heart Rate/physiology , Humans , Male , Middle Aged , Middle Cerebral Artery/diagnostic imaging , Middle Cerebral Artery/physiology , Observer Variation , Reproducibility of Results , Ultrasonography, Doppler, Transcranial/methods
9.
J Neurosci Methods ; 284: 57-62, 2017 Jun 01.
Article in English | MEDLINE | ID: mdl-28455103

ABSTRACT

BACKGROUND: We tested the hypothesis that paradigms from the Addenbrooke's Cognitive Examination (ACE-III), including those that had not been studied using TCD previously (novel) versus those which had been (established), would elicit changes in CBF velocity (CBFv). NEW METHOD: Healthy subjects were studied with bilateral transcranial Doppler (TCD), beat-to-beat blood pressure (Finapres), continuous electrocardiogram (ECG), and end-tidal CO2 (nasal capnography). After a 5-min baseline recording, cognitive tests of the ACE-III were presented to subjects, covering attention (SUB7, subtracting 7 from 100 sequentially), language (REP, repeating words and phrases), fluency (N-P, naming words), visuospatial (DRAW, clock-drawing), and memory (MEM, recalling name and address). An event marker noted question timing. RESULTS: Forty bilateral data sets were obtained (13 males, 37 right-hand dominant) with a median age of 31 years (IQR 22-52). Population normalized mean peak CBFv% in the dominant and non-dominant hemispheres, respectively, were: SUB7 (11.3±9.6%, 11.2±10.5%), N-P (12.7±11.7%, 11.5±12.0%), REP (12.9±11.7%, 11.6±11.6%), DRAW (13.3±11.7%, 13.2±15.4%) and MEM (13.2±10.3%, 12.0±10.1%). There was a significant difference between the dominant and non-dominant CBFv responses (p<0.008), but no difference between the amplitude of responses. COMPARISON WITH EXISTING METHODS: For established paradigms, our results are in excellent agreement to what has been found previously in the middle cerebral artery. CONCLUSIONS: Cognitive paradigms derived from the ACE-III led to significant lateralised changes in CBFv that were not distinct for novel paradigms. Further work is needed to assess the potential of paradigms to improve the interpretation of cognitive assessments in patients at risk of mild cognitive impairment.


Subject(s)
Blood Flow Velocity/physiology , Brain/diagnostic imaging , Brain/physiology , Cerebrovascular Circulation/physiology , Cognition/physiology , Neurovascular Coupling/physiology , Ultrasonography, Doppler, Transcranial/methods , Adult , Brain Mapping/methods , Feasibility Studies , Female , Humans , Image Interpretation, Computer-Assisted/methods , Male , Pilot Projects , Reproducibility of Results , Sensitivity and Specificity
10.
J Pediatr Adolesc Gynecol ; 30(1): 63-70, 2017 Feb.
Article in English | MEDLINE | ID: mdl-27543000

ABSTRACT

STUDY OBJECTIVE: To investigate the racial/ethnic differences in the correlates of spontaneous and medically-indicated late preterm birth (LPTB), defined as deliveries between 34 0/7 and 36 6/7 weeks gestation, among US adolescents. DESIGN: Population-based, retrospective cohort study. SETTING: Births in the United States to adolescents in 2012. PARTICIPANTS: Adolescents (younger than 20 years; n = 171,573) who delivered nonanomalous singleton first births between 34 and 44 weeks of gestation. INTERVENTIONS AND MAIN OUTCOME MEASURES: Bivariate and multivariable logistic regression were used to evaluate the associations between maternal risk factors and spontaneous and medically-indicated LPTB, stratified according to maternal race/ethnicity. RESULTS: Risk factors for spontaneous LPTB included single marital status among Asian adolescents; no insurance coverage among whites, Asian, and Hispanic adolescents; inadequate prenatal care among all racial/ethnic groups except American Indian, and adequate plus prenatal care among all races/ethnicities; prenatal smoking among whites and black adolescents; insufficient gestational weight gain among all racial/ethnic groups except American Indian; and prepregnancy underweight among white, black, and Hispanic adolescents. Risk factors for medically-indicated LPTB included inadequate prenatal care among white, black, and Hispanic adolescents, and adequate plus prenatal care among all racial/ethnic groups except Asian; insufficient gestational weight gain among white, black, and Hispanic adolescents; and prepregnancy overweight and obesity among white, black, and Hispanic adolescents. CONCLUSION: Our results show racial/ethnic differences in the correlates of spontaneous and medically-indicated LPTB among US adolescents and support the need for risk-specific interventions among different racial/ethnic groups.


Subject(s)
Ethnicity/statistics & numerical data , Health Status Disparities , Premature Birth/ethnology , Prenatal Care/statistics & numerical data , Adolescent , Black or African American/statistics & numerical data , Asian/statistics & numerical data , Female , Gestational Age , Hispanic or Latino/statistics & numerical data , Humans , Indians, North American/statistics & numerical data , Infant, Newborn , Logistic Models , Obesity/complications , Pregnancy , Premature Birth/etiology , Retrospective Studies , Risk Factors , United States , White People/statistics & numerical data , Young Adult
11.
J Anim Sci ; 94(10): 4067-4075, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27898872

ABSTRACT

Oxidative stress is an imbalance of the oxidant-to-antioxidant ratio in the body. Increases in oxidative stress and changes in antioxidant status have been shown during endurance and intense exercise and eventing competition in horses. Antioxidants include vitamins, minerals, enzymes, and proteins that must be synthesized in the body or obtained from the diet. Therefore, exercise level and diet are both factors that play a role in influencing the oxidative stress and antioxidant status of the equine athlete. Along with exercise intensity and duration, diet, age, and training program can also affect oxidative stress in the horse. Several studies using exogenous supplementation of vitamin E, vitamin C, and alpha-lipoic acid have shown positive results in decreasing the effects of exercise (endurance and intense exercise)-induced oxidative stress and increasing the antioxidant status based on the markers and antioxidants measured, whereas other studies using superoxide dismutase showed little effects on the exercise horse. The "free radical theory of aging" states that long-term effects of the degenerative changes associated with aging may induce oxidative stress. However, in old horses (22 ± 2 yr), lipid peroxidation levels and blood antioxidant concentrations were similar to those found in younger but mature (12 ± 2 yr) horses both at rest and during exercise. Other studies found that yearlings (18 ± 2.4 mo) that are novel to forced exercise had less lipid peroxidation and greater antioxidant status than mature mares (13 ± 2.1 yr) prior to exercise training. Exercise training reduced oxidative stress markers and improved antioxidant status in mares, whereas few effects were seen in yearlings. This indicates that youth provided more defense against oxidative stress due to exercise than the exercise training program. Other studies during competition (endurance, jumping, eventing, and racing) have investigated the influence on oxidative stress with varying results. Despite the multitude of studies examining the levels of lipid peroxidation, antioxidant status, and other related metabolites in the horse during exercise, we still have a long way to go before we fully understand the large variation in results both with and without antioxidant supplementation.


Subject(s)
Horses/physiology , Oxidative Stress , Physical Conditioning, Animal , Aging , Animals , Antioxidants/administration & dosage , Ascorbic Acid/administration & dosage , Competitive Behavior , Diet , Dietary Supplements , Female , Lipid Peroxidation , Male , Oxidation-Reduction , Oxidative Stress/drug effects , Reactive Oxygen Species/analysis , Reactive Oxygen Species/metabolism , Superoxide Dismutase/metabolism , Thioctic Acid/administration & dosage , Vitamin E/administration & dosage
12.
Eye (Lond) ; 30(4): 577-81, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26795413

ABSTRACT

PURPOSE: Retinopathy of prematurity (ROP) is a disorder of developing retinal blood vessels in preterm infants. The purpose of this nested study was to investigate the effects of higher (91-95%) and lower (85-89%) oxygen saturation (SpO2) targeting on retinal blood vessel growth in preterm infants. METHODS: Retinal blood vessel growth in the higher (91-95%) and lower (85-89%) oxygen saturation (SpO2) targeting groups was compared. Suitable RetCam (Clarity, Pleasanton, CA, USA) images collected in the BOOST-II UK trial were used. The distances between the centre of the optic disc and the ROP ridge in the temporal and nasal retina were measured in pixel units. RESULTS: Images from 38 infants were studied, 20 from the higher SpO2 target group and 18 from the lower SpO2 target group. On average, temporal blood vessels extended further from the optic disc than nasal blood vessels, mean (standard deviation (SD)) 463.39 (55.05) pixels compared with 360.13 (44.47) pixels, respectively, P<0.0001. Temporal blood vessels extended less far from the optic disc in the higher SpO2 target group than in the lower SpO2 target group: mean (SD) 449.83 (56.16) pixels compared with 480.02 (49.94), respectively, P=0.055. Nasal retinal blood vessel measurements were broadly similar in the higher and lower SpO2 target groups; mean (SD) 353.96 (41.95) compared with 370.00 (48.82) pixels, respectively, P=0.38. CONCLUSIONS: Relatively high oxygen saturation targeting (91-95%) was associated with a trend (P=0.055) towards reduced retinal blood vessel growth in this study of preterm infants.


Subject(s)
Oxygen Inhalation Therapy , Oxygen/blood , Retinal Neovascularization/physiopathology , Retinal Vessels/pathology , Retinopathy of Prematurity/physiopathology , Databases, Factual , Female , Gestational Age , Humans , Infant , Infant, Newborn , Infant, Premature , Infant, Very Low Birth Weight , Male , Observer Variation , Oximetry , United Kingdom
13.
Eur J Clin Nutr ; 69(12): 1344-5, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26130299

ABSTRACT

Following periods of physical activity, it is not uncommon for exercisers to increase their energy intake as a reward deemed 'earned'. Consumers' awareness of the energy within food and expended from exercise has previously been found to be limited. Therefore, the aim was to investigate whether habitual exercisers (50 adults and 49 children from 5 sports clubs) were able to conceptualise the energy expenditure (EE), following 1 h of their regular sports training, into a quantifiable amount of perceived energy compensation (PEC) in the form of food (chocolate) or drink (sports drink). Mean percentage accuracy for the PEC against EE matched <30% (± 29%), a significant underestimation irrespective of sex or sport. Percentage accuracy failed to significantly correlate to age. These findings indicate a necessity to improve nutrition education surrounding the energy costs of exercise relative to the energy contained within foods/drinks for both adults and children.


Subject(s)
Energy Intake , Energy Metabolism , Exercise , Sports , Adolescent , Adult , Age Factors , Beverages , Body Mass Index , Child , Female , Food , Football , Hockey , Humans , Male , Middle Aged , Racquet Sports , Sex Factors , Swimming , Young Adult
14.
Am J Physiol Heart Circ Physiol ; 308(11): H1443-50, 2015 Jun 01.
Article in English | MEDLINE | ID: mdl-25820392

ABSTRACT

Acute exercise transiently improves endothelial function and protects the vasculature from the deleterious effects of a high-fat meal (HFM). We sought to identify whether this response is dependent on exercise intensity in adolescents. Twenty adolescents (10 male, 14.3 ± 0.3 yr) completed three 1-day trials: 1) rest (CON); 2) 8 × 1 min cycling at 90% peak power with 75 s recovery [high-intensity interval exercise (HIIE)]; and 3) cycling at 90% of the gas exchange threshold [moderate-intensity exercise (MIE)] 1 h before consuming a HFM (1.50 g/kg fat). Macrovascular and microvascular endothelial function was assessed before and immediately after exercise and 3 h after the HFM by flow-mediated dilation (FMD) and laser Doppler imaging [peak reactive hyperemia (PRH)]. FMD and PRH increased 1 h after HIIE [P < 0.001, effect size (ES) = 1.20 and P = 0.048, ES = 0.56] but were unchanged after MIE. FMD and PRH were attenuated 3 h after the HFM in CON (P < 0.001, ES = 1.78 and P = 0.02, ES = 0.59). FMD remained greater 3 h after the HFM in HIIE compared with MIE (P < 0.001, ES = 1.47) and CON (P < 0.001, ES = 2.54), and in MIE compared with CON (P < 0.001, ES = 1.40). Compared with CON, PRH was greater 3 h after the HFM in HIIE (P = 0.02, ES = 0.71) and MIE (P = 0.02, ES = 0.84), with no differences between HIIE and MIE (P = 0.72, ES = 0.16). Plasma triacylglycerol concentration and total antioxidant status concentration were not different between trials. We conclude that exercise intensity plays an important role in protecting the vasculature from the deleterious effects of a HFM. Performing HIIE may provide superior vascular benefits than MIE in adolescent groups.


Subject(s)
Diet, High-Fat/adverse effects , Endothelium, Vascular/physiology , Exercise , Postprandial Period , Vascular Diseases/prevention & control , Adolescent , Case-Control Studies , Child , Female , Humans , Male , Vascular Diseases/etiology , Vasodilation
15.
Case Rep Genet ; 2014: 127258, 2014.
Article in English | MEDLINE | ID: mdl-24778887

ABSTRACT

The proximal 15q11-q13 region contains 5 breakpoints (BP1-BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features. We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome. While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome. We encourage others to report patients with this chromosome microdeletion and neurological findings to further characterize the clinical phenotype.

16.
Ultramicroscopy ; 125: 10-7, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23262147

ABSTRACT

Atom probe tomography (APT) is used to investigate the composition of oxygen rich nanoparticles within a ferritic matrix in Fe-14Cr-2W-0.1Ti oxide-dispersion-strengthened (ODS) steel. This study investigates whether artifacts associated with APT analysis are the cause of a sub-stoichiometric oxide composition measurement. Bulk Y2O3 is analyzed by APT, thus demonstrating the ability of the technique to measure near-stoichiometric composition measurements in insulating oxides. Through analysis of the sequence of ion hits on the detector during APT data acquisition, it is shown that a proportion of yttrium hits are spatially correlated but oxygen hits are not. Y-O based nanoparticles in a ferritic matrix are analyzed by APT using voltage pulsing and a laser pulsing with a range of laser energies from 0.3-0.8 nJ. When the material is analyzed using a high effective evaporation field, this influences the effect of trajectory aberrations, and the apparent size of the nanoparticles is reduced. Some reduction in Y:O ratio is observed, caused by high instances of multiple-ion evaporation events. From a detailed comparison between the results of APT analysis of the bulk Y2O3 the nanoparticles in the ODS material are concluded to have an approximate Y:O ratio of 1:1.

17.
Mol Syndromol ; 2(3-5): 100-112, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22670133

ABSTRACT

The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2-q13 genomic region identifies 75-80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5-10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity.

18.
Neuroscience ; 214: 106-19, 2012 Jul 12.
Article in English | MEDLINE | ID: mdl-22525132

ABSTRACT

Spinal cord stimulation (SCS) inhibits substance P (SP) release and decreases the expression of the transient receptor potential vanilloid 1 (TRPV1) in the spinal cord at thoracic 4 (T4) during cardiac ischemia in rat models (Ding et al., 2007). We hypothesized that activation of TRPV1 in the T4 spinal cord segment by intermittent occlusion of the left anterior descending coronary artery (CoAO) mediates spinal cord SP release. Experiments were conducted in urethane-anesthetized Sprague-Dawley male rats using SP antibody-coated microprobes to measure SP release at the central terminal endings of cardiac ischemic-sensitive afferent neurons (CISAN) in the spinal T4 dorsal horns. Vehicle, capsaicin (CAP; TRPV1 agonist) and capsazepine (CZP; TRPV1 antagonist) were injected into the left T4 prior to stimulation of CISAN by intermittent CoAO (with or without upper cervical SCS). CAP induced endogenous SP release from laminae I and II in the T4 spinal cord above baseline. Conversely, CZP injections significantly inhibited SP release from laminae I-VII in the T4 spinal cord segment below baseline. CZP also attenuated CoAO-induced SP release, while T4 injections of CZP with SCS completely restored SP release to basal levels during CoAO activation. CAP increased the number of c-Fos (a marker for CISAN activation) positive T4 dorsal horn neurons compared to sham-operated animals, while CZP (alone or during CoAO and SCS+CoAO) significantly reduced the number of c-Fos positive neurons. These results suggest that spinal release of the putative nociceptive transmitter SP occurs, at least in part, via a TRPV1 mechanism.


Subject(s)
Myocardial Ischemia/metabolism , Posterior Horn Cells/metabolism , Substance P/metabolism , TRPV Cation Channels/physiology , Animals , Male , Rats , Rats, Sprague-Dawley , Spinal Cord/metabolism , TRPV Cation Channels/antagonists & inhibitors , TRPV Cation Channels/biosynthesis , Thoracic Vertebrae
19.
J Anim Sci ; 90(3): 1069-75, 2012 Mar.
Article in English | MEDLINE | ID: mdl-21908642

ABSTRACT

Our objective in this study is to compare 4 of the most common bedding materials used by equine operations on the chemical and physical characteristics of composted equine stall waste. Twelve Standardbred horses were adapted to the barn and surrounding environment for 2 wk before the start of the study. Groups of 3 horses were bedded on 1 of 4 different bedding types (wood shavings, pelletized wood materials, long straw, and pelletized straw) for 16 h per day for 18 d. Stalls were cleaned by trained staff daily, and all contents removed were weighed and stored separately by bedding material on a level covered concrete pad for the duration of the study. Compost piles were constructed using 3 replicate piles of each bedding type in a randomized complete block design. Each pile was equipped with a temperature sensor and data logger. Water was added and piles were turned weekly throughout the 100-d compost process. Initial and final samples were taken, dried, and analyzed for DM mass, OM, inorganic nitrogen (nitrate-N and ammonium-N), electrical conductivity, and soluble (plant-available) nutrients. Data were analyzed using the GLM procedure, and means were separated using Fischer's protected LSD test (P < 0.05). No significant temperature differences were observed among the bedding materials. The composting process resulted in significant reductions (P < 0.05) in DM mass for each of the 4 bedding materials. The composting process resulted in significant reductions (P < 0.05) in OM and C:N ratio for all 4 bedding materials. The composted long straw material had greater concentrations of total Kjeldahl nitrogen (P < 0.05), nitrate-N (P < 0.05), and ammonium-N (P < 0.05) than the composted wood shavings. This study demonstrated that incorporating a simple aerobic composting system may greatly reduce the overall volume of manure and yield a material that is beneficial for land application in pasture-based systems. The straw-based materials may be better suited for composting and subsequent land application; however, factors such as suitability of the bedding material for equine use, material cost, labor, and availability must be considered when selecting a bedding material.


Subject(s)
Floors and Floorcoverings , Horses , Housing, Animal , Refuse Disposal , Soil/analysis , Soil/standards , Agriculture , Animals , Carbon , Hydrogen-Ion Concentration , Nitrogen , Phosphorus , Plant Stems , Potassium , Wood
20.
Br J Sports Med ; 46(1): 49-53, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22067280

ABSTRACT

OBJECTIVE: To determine the importance of the provision of external exercise information to the setting of the pacing strategy, in subjects unfamiliar with a cycling task. DESIGN: Twenty-two healthy, untrained cyclists (VO(2max), 50 ± 9 mL-(1)·kg-(1)·min-(1)) were randomly assigned to a control (CON) group or an experimental (EXP) group and two successive 4 km time trials (TT) were performed, separated by a 17 min recovery. The CON group received distance knowledge and distance feedback; the EXP group received neither, but knew that each TT was to be of the same distance. RESULTS: No significant difference in completion time (p>0.05) was observed between the groups for either time to complete TT one (TT1) (CON=443 ± 33 s versus EXP=471 ± 63 s) or time to complete TT two (time trial 2) (CON=461 ± 37 s versus EXP=501 ± 94 s). No significant difference in the final RPE was observed between groups. However, a significant interaction for RPE (rating of perceived exertion)×TT in the CON was observed (F7,70=5.32, p<0.05), with significantly higher RPE values in the final kilometre of TT2 (p<0.05). CONCLUSION: The lack of any performance improvement in either group, despite the differences in exercise information received, indicates both a reliance on the afferent feedback for setting a pacing strategy and slow learning effect from practice in subjects unfamiliar with the task. The modification in RPE profile observed in the CON, despite no performance improvement, suggests exercise perception based changes may pre-empt work rate based changes and thus not immediately translate to improved performance.


Subject(s)
Athletic Performance/physiology , Bicycling/physiology , Exercise/physiology , Analysis of Variance , Energy Metabolism/physiology , Feedback , Heart Rate/physiology , Humans , Male , Oxygen Consumption/physiology , Time Factors , Young Adult
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