Eating dysfunction associated with oromandibular dystonia: clinical characteristics and treatment considerations

BACKGROUND: In oromandibular dystonia (OMD) abnormal repetitive contractions of masticatory, facial, and lingual muscles as well as the presence of orobuccolingual (OBL) dyskinesias may interfere with the appropriate performance of tasks such as chewing and swallowing leading to significant dysphagia and weight loss. We present here the clinical characteristics and treatment variables of a series of patients that developed an OMD-associated eating dysfunction. METHODS: We present a series of patients diagnosed and followed-up at the Movement Disorders Clinic of the Department of Neurology of University of Miami, Miller School of Medicine over a 10-year period. Patients were treated with botulinum toxin injections according to standard methods. RESULTS: Five out of 32 (15.6%) OMD patients experienced symptoms of eating dysfunction associated with OMD. Significant weight loss was reported in 3/5 patients (ranged for 13–15 lbs). Two patients regained the lost weight after treatment and one was lost to follow-up. Tetrabenazine in combination with other antidystonic medication and/or botulinum toxin injections provided substantial benefit to the patients with dysphagia caused by OMD. CONCLUSION: Dystonic eating dysfunction may occasionally complicate OMD leading to weight loss. Its adequate characterization at the time of history taking and clinical examination should be part of outcome measurements of the anti-dystonic treatment in clinical practice

Molecular Analysis of Precursor Lesions in Familial Pancreatic Cancer

PMCID: PMC3553106This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Schmallenberg virus pathogenesis, tropism and interaction with the innate immune system of the host

Schmallenberg virus (SBV) is an emerging orthobunyavirus of ruminants associated with outbreaks of congenital malformations in aborted and stillborn animals. Since its discovery in November 2011, SBV has spread very rapidly to many European countries. Here, we developed molecular and serological tools, and an experimental in vivo model as a platform to study SBV pathogenesis, tropism and virus-host cell interactions. Using a synthetic biology approach, we developed a reverse genetics system for the rapid rescue and genetic manipulation of SBV. We showed that SBV has a wide tropism in cell culture and “synthetic” SBV replicates in vitro as efficiently as wild type virus. We developed an experimental mouse model to study SBV infection and showed that this virus replicates abundantly in neurons where it causes cerebral malacia and vacuolation of the cerebral cortex. These virus-induced acute lesions are useful in understanding the progression from vacuolation to porencephaly and extensive tissue destruction, often observed in aborted lambs and calves in naturally occurring Schmallenberg cases. Indeed, we detected high levels of SBV antigens in the neurons of the gray matter of brain and spinal cord of naturally affected lambs and calves, suggesting that muscular hypoplasia observed in SBV-infected lambs is mostly secondary to central nervous system damage. Finally, we investigated the molecular determinants of SBV virulence. Interestingly, we found a biological SBV clone that after passage in cell culture displays increased virulence in mice. We also found that a SBV deletion mutant of the non-structural NSs protein (SBVΔNSs) is less virulent in mice than wild type SBV. Attenuation of SBV virulence depends on the inability of SBVΔNSs to block IFN synthesis in virus infected cells. In conclusion, this work provides a useful experimental framework to study the biology and pathogenesis of SBV

Toxic effects of Pb2+ on the growth and mineral nutrition of signal grass (Brachiaria decumbens) and Rhodes grass (Chloris gayana)

Although grasses are commonly used to revegetate sites contaminated with lead (Pb), little is known regarding the Pb-tolerance of many of these species. Using dilute solution culture to mimic the soil solution, the growth of signal grass (Brachiaria decumbens Stapf cv. Basilisk) and Rhodes grass (Chloris gayana Kunth cv. Pioneer) was related to the mean activity of Pb2+ {Pb2+} in solution. There was a 50% reduction in fresh mass of signal grass shoots at 5 mu M {Pb2+} and at 3 mu M {Pb2+} for the roots. Rhodes grass was considerably more sensitive to Pb in solution, with shoot and root fresh mass being reduced by 50% at 0.5 mu M {Pb2+}. The higher tolerance of signal grass to Pb appeared to result from the internal detoxification of Pb, rather than from the exclusion of Pb from the root. At toxic {Pb2+}, an interveinal chlorosis developed in the shoots of signal grass (possibly a Pb-induced Mn deficiency), whilst in Rhodes grass, Pb2+ caused a bending of the root tips and the formation of a swelling immediately behind some of the root apices. Root hair growth did not appear to be reduced by Pb2+ in solution, being prolific at all {Pb2+} in both species

Validation of the use of Actigraph GT3X accelerometers to estimate energy expenditure in full time manual wheel chair users with Spinal Cord Injury

Study design: Cross-sectional validation study. Objectives: The goals of this study were to validate the use of accelerometers by means of multiple linear models (MLMs) to estimate the O2 consumption (VO2) in paraplegic persons and to determine the best placement for accelerometers on the human body. Setting: Non-hospitalized paraplegics’ community. Methods: Twenty participants (age=40.03 years, weight=75.8 kg and height=1.76 m) completed sedentary, propulsion and housework activities for 10 min each. A portable gas analyzer was used to record VO2. Additionally, four accelerometers (placed on the non-dominant chest, non-dominant waist and both wrists) were used to collect second-by-second acceleration signals. Minute-by-minute VO2 (ml kg−1 min−1) collected from minutes 4 to 7 was used as the dependent variable. Thirty-six features extracted from the acceleration signals were used as independent variables. These variables were, for each axis including the resultant vector, the percentiles 10th, 25th, 50th, 75th and 90th; the autocorrelation with lag of 1 s and three variables extracted from wavelet analysis. The independent variables that were determined to be statistically significant using the forward stepwise method were subsequently analyzed using MLMs. Results: The model obtained for the non-dominant wrist was the most accurate (VO2=4.0558−0.0318Y25+0.0107Y90+0.0051YND2−0.0061ZND2+0.0357VR50) with an r-value of 0.86 and a root mean square error of 2.23 ml kg−1 min−1. Conclusions: The use of MLMs is appropriate to estimate VO2 by accelerometer data in paraplegic persons. The model obtained to the non-dominant wrist accelerometer (best placement) data improves the previous models for this population.LM Garcia-Raffi and EA Sanchez-Perez gratefully acknowledge the support of the Ministerio de Economia y Competitividad under project #MTM2012-36740-c02-02. X Garcia-Masso is a Vali + D researcher in training with support from the Generalitat Valenciana.Garcia Masso, X.; Serra Añó, P.; García Raffi, LM.; Sánchez Pérez, EA.; Lopez Pascual, J.; González, L. (2013). Validation of the use of Actigraph GT3X accelerometers to estimate energy expenditure in full time manual wheel chair users with Spinal Cord Injury. Spinal Cord. 51(12):898-903. https://doi.org/10.1038/sc.2013.85S8989035112Van den Berg-Emons RJ, Bussmann JB, Haisma JA, Sluis TA, van der Woude LH, Bergen MP et al. A prospective study on physical activity levels after spinal cord injury during inpatient rehabilitation and the year after discharge. Arch Phys Med Rehabil 2008; 89: 2094–2101.Jacobs PL, Nash MS . Exercise recommendations for individuals with spinal cord injury. Sports Med 2004; 34: 727–751.Erikssen G . Physical fitness and changes in mortality: the survival of the fittest. Sports Med 2001; 31: 571–576.Warburton DER, Nicol CW, Bredin SSD . Health benefits of physical activity: the evidence. CMAJ 2006; 174: 801–809.Haennel RG, Lemire F . Physical activity to prevent cardiovascular disease. How much is enough? Can Fam Physician 2002; 48: 65–71.Manns PJ, Chad KE . Determining the relation between quality of life, handicap, fitness, and physical activity for persons with spinal cord injury. Arch Phys Med Rehabil 1999; 80: 1566–1571.Hetz SP, Latimer AE, Buchholz AC, Martin Ginis KA . Increased participation in activities of daily living is associated with lower cholesterol levels in people with spinal cord injury. Arch Phys Med Rehabil 2009; 90: 1755–1759.Buchholz AC, Martin Ginis KA, Bray SR, Craven BC, Hicks AL, Hayes KC et al. Greater daily leisure time physical activity is associated with lower chronic disease risk in adults with spinal cord injury. Appl Physiol Nutr Metab 2009; 34: 640–647.Slater D, Meade MA . Participation in recreation and sports for persons with spinal cord injury: review and recommendations. Neurorehabilitation 2004; 19: 121–129.Valanou EM, Bamia C, Trichopoulou A . Methodology of physical-activity and energy-expenditure assessment: a review. J Public Health 2006; 14: 58–65.Liu S, Gao RX, Freedson PS . Computational methods for estimating energy expenditure in human physical activities. Med Sci Sports Exerc 2012; 44: 2138–2146.Troiano RP, Berrigan D, Dodd KW, Mâsse LC, Tilert T, McDowell M . Physical activity in the United States measured by accelerometer. Med Sci Sports Exerc 2008; 40: 181–188.Riddoch CJ, Bo Andersen L, Wedderkopp N, Harro M, Klasson-Heggebø L, Sardinha LB et al. Physical activity levels and patterns of 9- and 15-yr-old European children. Med Sci Sports Exerc 2004; 36: 86–92.Hiremath SV, Ding D . Evaluation of activity monitors in manual wheelchair users with paraplegia. J Spinal Cord Med 2011; 34: 110–117.Hiremath SV, Ding D . Evaluation of activity monitors to estimate energy expenditure in manual wheelchair users. Conf Proc IEEE Eng Med Biol Soc 2009; 2009: 835–838.Washburn R, Copay A . Assessing physical activity during wheelchair pushing: validity of a portable accelerometer. Adapt Phys Activ Q 1999; 16: 290–299.Hiremath SV, Ding D . Regression equations for RT3 activity monitors to estimate energy expenditure in manual wheelchair users. Conf Proc IEEE Eng Med Biol Soc 2011; 2011: 7348–7351.Hiremath SV, Ding D, Farringdon J, Cooper RA . Predicting energy expenditure of manual wheelchair users with spinal cord injury using a multisensor-based activity monitor. Arch Phys Med Rehabil 2012; 93: 1937–1943.Bassett DR Jr, Ainsworth BE, Swartz AM, Strath SJ, O’Brien WL, King GA . Validity of four motion sensors in measuring moderate intensity physical activity. Med Sci Sports Exerc 2000; 32: S471–S480.Motl RW, Sosnoff JJ, Dlugonski D, Suh Y, Goldman M . Does a waist-worn accelerometer capture intra- and inter-person variation in walking behavior among persons with multiple sclerosis? Med Eng Phys 2010; 32: 1224–1228.Van Remoortel H, Raste Y, Louvaris Z, Giavedoni S, Burtin C, Langer D et al. Validity of six activity monitors in chronic obstructive pulmonary disease: a comparison with indirect calorimetry. PLoS One 2012; 7: e39198.Macfarlane DJ . Automated metabolic gas analysis systems: a review. Sports Med 2001; 31: 841–861.Staudenmayer J, Pober D, Crouter S, Bassett D, Freedson P . An artificial neural network to estimate physical activity energy expenditure and identify physical activity type from an accelerometer. J Appl Physiol 2009; 107: 1300–1307.Daubechies I . Ten Lectures on Wavelets. SIAM, Philadelphia. 1999.Debnat I . Wavelets and Signal Processing. Birkhauser, Boston. 2003.Collins EG, Gater D, Kiratli J, Butler J, Hanson K, Langbein WE . Energy cost of physical activities in persons with spinal cord injury. Med Sci Sports Exerc 2010; 42: 691–700.Lee M, Zhu W, Hedrick B, Fernhall B . Determining metabolic equivalent values of physical activities for persons with paraplegia. Disabil Rehabil 2010; 32: 336–343.Crouter SE, Clowers KG, Bassett DR Jr . A novel method for using accelerometer data to predict energy expenditure. J Appl Physiol 2006; 100: 1324–1331

Jet energy measurement with the ATLAS detector in proton-proton collisions at root s=7 TeV

The jet energy scale and its systematic uncertainty are determined for jets measured with the ATLAS detector at the LHC in proton-proton collision data at a centre-of-mass energy of √s = 7TeV corresponding to an integrated luminosity of 38 pb-1. Jets are reconstructed with the anti-kt algorithm with distance parameters R=0. 4 or R=0. 6. Jet energy and angle corrections are determined from Monte Carlo simulations to calibrate jets with transverse momenta pT≥20 GeV and pseudorapidities {pipe}η{pipe}<4. 5. The jet energy systematic uncertainty is estimated using the single isolated hadron response measured in situ and in test-beams, exploiting the transverse momentum balance between central and forward jets in events with dijet topologies and studying systematic variations in Monte Carlo simulations. The jet energy uncertainty is less than 2. 5 % in the central calorimeter region ({pipe}η{pipe}<0. 8) for jets with 60≤pT<800 GeV, and is maximally 14 % for pT<30 GeV in the most forward region 3. 2≤{pipe}η{pipe}<4. 5. The jet energy is validated for jet transverse momenta up to 1 TeV to the level of a few percent using several in situ techniques by comparing a well-known reference such as the recoiling photon pT, the sum of the transverse momenta of tracks associated to the jet, or a system of low-pT jets recoiling against a high-pT jet. More sophisticated jet calibration schemes are presented based on calorimeter cell energy density weighting or hadronic properties of jets, aiming for an improved jet energy resolution and a reduced flavour dependence of the jet response. The systematic uncertainty of the jet energy determined from a combination of in situ techniques is consistent with the one derived from single hadron response measurements over a wide kinematic range. The nominal corrections and uncertainties are derived for isolated jets in an inclusive sample of high-pT jets. Special cases such as event topologies with close-by jets, or selections of samples with an enhanced content of jets originating from light quarks, heavy quarks or gluons are also discussed and the corresponding uncertainties are determined. © 2013 CERN for the benefit of the ATLAS collaboration

Measurement of the inclusive and dijet cross-sections of b-jets in pp collisions at sqrt(s) = 7 TeV with the ATLAS detector

The inclusive and dijet production cross-sections have been measured for jets containing b-hadrons (b-jets) in proton-proton collisions at a centre-of-mass energy of sqrt(s) = 7 TeV, using the ATLAS detector at the LHC. The measurements use data corresponding to an integrated luminosity of 34 pb^-1. The b-jets are identified using either a lifetime-based method, where secondary decay vertices of b-hadrons in jets are reconstructed using information from the tracking detectors, or a muon-based method where the presence of a muon is used to identify semileptonic decays of b-hadrons inside jets. The inclusive b-jet cross-section is measured as a function of transverse momentum in the range 20 < pT < 400 GeV and rapidity in the range |y| < 2.1. The bbbar-dijet cross-section is measured as a function of the dijet invariant mass in the range 110 < m_jj < 760 GeV, the azimuthal angle difference between the two jets and the angular variable chi in two dijet mass regions. The results are compared with next-to-leading-order QCD predictions. Good agreement is observed between the measured cross-sections and the predictions obtained using POWHEG + Pythia. MC@NLO + Herwig shows good agreement with the measured bbbar-dijet cross-section. However, it does not reproduce the measured inclusive cross-section well, particularly for central b-jets with large transverse momenta.Comment: 10 pages plus author list (21 pages total), 8 figures, 1 table, final version published in European Physical Journal

Observation of associated near-side and away-side long-range correlations in √sNN=5.02 TeV proton-lead collisions with the ATLAS detector

Two-particle correlations in relative azimuthal angle (Δϕ) and pseudorapidity (Δη) are measured in √sNN=5.02  TeV p+Pb collisions using the ATLAS detector at the LHC. The measurements are performed using approximately 1  μb-1 of data as a function of transverse momentum (pT) and the transverse energy (ΣETPb) summed over 3.1<η<4.9 in the direction of the Pb beam. The correlation function, constructed from charged particles, exhibits a long-range (2<|Δη|<5) “near-side” (Δϕ∼0) correlation that grows rapidly with increasing ΣETPb. A long-range “away-side” (Δϕ∼π) correlation, obtained by subtracting the expected contributions from recoiling dijets and other sources estimated using events with small ΣETPb, is found to match the near-side correlation in magnitude, shape (in Δη and Δϕ) and ΣETPb dependence. The resultant Δϕ correlation is approximately symmetric about π/2, and is consistent with a dominant cos⁡2Δϕ modulation for all ΣETPb ranges and particle pT