1,630 research outputs found
Vigabatrin and Visual Field Defects in Pediatric Epilepsy Patients
We studied the prevalence, type and severity of vigabatrin (VGB)-attributed visual field defects (VFDs), and used these data to assess the associated risk factors in pediatric patients. Medical records were retrospectively reviewed for 67 pediatric patients who received VGB alone or in combination with other antiepileptic drugs, and who had undergone visual field examinations using a Humphrey visual field analyzer. Of the 67 patients, 15 had VGB-attributed VFDs: 13 had nasal arcuate type, 1 had nasal and temporal constricted type and 1 had nasal constricted type. In terms of severity, 7 patients had Grade I VGB-attributed VFDs, 5 had Grade II, 2 had Grade III, and 1 had Grade IV. Although there were no significant differences between the VFD and non-VFD groups with regards to all tested parameters, there were no cases of VGB-attributed VFDs in patients with total treatment durations <2 yr and cumulative doses <10 g/kg. In conclusion, the prevalence of VGB-attributed VFDs in VGB-treated pediatric epilepsy patients was 22%. The high frequency of VGB-attributed VFDs indicates that physicians should inform all patients of this risk prior to VGB treatment and perform periodic visual field examinations
Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (“Cohen-like” syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis
Brain Diffusivity in Infants With Hypoxic-Ischemic Encephalopathy Following Whole Body Hypothermia: Preliminary Results
Abstract Hypoxic-ischemic encephalopathy is an important cause of neuropsychological deficits. Little is known about brain diffusivity in these infants following cooling and its potential in predicting outcome. Diffusion tensor imaging was applied to 3 groups: (1) three infants with hypoxic-ischemic encephalopathy: cooled; (2) three infants with hypoxic-ischemic encephalopathy: noncooled; and (3) four controls. Diffusivity values at the corticospinal tract, thalamus, and putamen were correlated with Apgar scores and early neurodevelopmental outcome. While cooled infants exhibited lower Apgar scores than noncooled infants, their developmental scores at a mean age of 8 months were higher. All groups differed in their diffusivity values with the cooled infants showing better values compared with the noncooled, correlating with early neurodevelopmental outcome. These preliminary results indicate that diffusion tensor imaging performed at an early age in infants with hypoxic-ischemic encephalopathy may forecast clinical outcome and support the neuroprotective effect of hypothermia treatment
Determination of alpha_s using Jet Rates at LEP with the OPAL detector
Hadronic events produced in e+e- collisions by the LEP collider and recorded
by the OPAL detector were used to form distributions based on the number of
reconstructed jets. The data were collected between 1995 and 2000 and
correspond to energies of 91 GeV, 130-136 GeV and 161-209 GeV. The jet rates
were determined using four different jet-finding algorithms (Cone, JADE, Durham
and Cambridge). The differential two-jet rate and the average jet rate with the
Durham and Cambridge algorithms were used to measure alpha(s) in the LEP energy
range by fitting an expression in which order alpah_2s calculations were
matched to a NLLA prediction and fitted to the data. Combining the measurements
at different centre-of-mass energies, the value of alpha_s (Mz) was determined
to be
alpha(s)(Mz)=0.1177+-0.0006(stat.)+-0.0012$(expt.)+-0.0010(had.)+-0.0032(theo.)
\.Comment: 40 pages, 17 figures, Submitted to Euro. Phys. J.
Colour reconnection in e+e- -> W+W- at sqrt(s) = 189 - 209 GeV
The effects of the final state interaction phenomenon known as colour
reconnection are investigated at centre-of-mass energies in the range sqrt(s) ~
189-209 GeV using the OPAL detector at LEP. Colour reconnection is expected to
affect observables based on charged particles in hadronic decays of W+W-.
Measurements of inclusive charged particle multiplicities, and of their angular
distribution with respect to the four jet axes of the events, are used to test
models of colour reconnection. The data are found to exclude extreme scenarios
of the Sjostrand-Khoze Type I (SK-I) model and are compatible with other
models, both with and without colour reconnection effects. In the context of
the SK-I model, the best agreement with data is obtained for a reconnection
probability of 37%. Assuming no colour reconnection, the charged particle
multiplicity in hadronically decaying W bosons is measured to be (nqqch) =
19.38+-0.05(stat.)+-0.08 (syst.).Comment: 30 pages, 9 figures, Submitted to Euro. Phys. J.
Measurement of the partial widths of the Z into up- and down-type quarks
Using the entire OPAL LEP1 on-peak Z hadronic decay sample, Z -> qbarq gamma
decays were selected by tagging hadronic final states with isolated photon
candidates in the electromagnetic calorimeter. Combining the measured rates of
Z -> qbarq gamma decays with the total rate of hadronic Z decays permits the
simultaneous determination of the widths of the Z into up- and down-type
quarks. The values obtained, with total errors, were Gamma u = 300 ^{+19}_{-18}
MeV and Gamma d = 381 ^{+12}_{-12} MeV. The results are in good agreement with
the Standard Model expectation.Comment: 22 pages, 5 figures, Submitted to Phys. Letts.
Measurement of the running of the QED coupling in small-angle Bhabha scattering at LEP
Using the OPAL detector at LEP, the running of the effective QED coupling
alpha(t) is measured for space-like momentum transfer from the angular
distribution of small-angle Bhabha scattering. In an almost ideal QED
framework, with very favourable experimental conditions, we obtain:
Delta alpha(-6.07GeV^2) - Delta alpha(-1.81GeV^2) = (440 pm 58 pm 43 pm 30) X
10^-5, where the first error is statistical, the second is the experimental
systematic and the third is the theoretical uncertainty. This agrees with
current evaluations of alpha(t).The null hypothesis that alpha remains constant
within the above interval of -t is excluded with a significance above 5sigma.
Similarly, our results are inconsistent at the level of 3sigma with the
hypothesis that only leptonic loops contribute to the running. This is
currently the most significant direct measurment where the running alpha(t) is
probed differentially within the measured t range.Comment: 43 pages, 12 figures, Submitted to Euro. Phys. J.
Scaling violations of quark and gluon jet fragmentation functions in e+e- annihilations at sqrt(s) = 91.2 and 183-209 GeV
Flavour inclusive, udsc and b fragmentation functions in unbiased jets, and
flavour inclusive, udsc, b and gluon fragmentation functions in biased jets are
measured in e+e- annihilations from data collected at centre-of-mass energies
of 91.2, and 183-209 GeV with the OPAL detector at LEP. The unbiased jets are
defined by hemispheres of inclusive hadronic events, while the biased jet
measurements are based on three-jet events selected with jet algorithms.
Several methods are employed to extract the fragmentation functions over a wide
range of scales. Possible biases are studied in the results are obtained. The
fragmentation functions are compared to results from lower energy e+e-
experiments and with earlier LEP measurements and are found to be consistent.
Scaling violations are observed and are found to be stronger for the
fragmentation functions of gluon jets than for those of quarks. The measured
fragmentation functions are compared to three recent theoretical
next-to-leading order calculations and to the predictions of three Monte Carlo
event generators. While the Monte Carlo models are in good agreement with the
data, the theoretical predictions fail to describe the full set of results, in
particular the b and gluon jet measurements.Comment: 46 pages, 17 figures, Submitted to Eur. Phys J.
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