672 research outputs found
Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy
BACKGROUND: Myocardial fibrosis is a hallmark of hypertrophic cardiomyopathy and a proposed substrate for arrhythmias and heart failure. In animal models, profibrotic genetic pathways are activated early, before hypertrophic remodeling. Data showing early profibrotic responses to sarcomere-gene mutations in patients with hypertrophic cardiomyopathy are lacking.
METHODS: We used echocardiography, cardiac magnetic resonance imaging (MRI), and serum biomarkers of collagen metabolism, hemodynamic stress, and myocardial injury to evaluate subjects with hypertrophic cardiomyopathy and a confirmed genotype.
RESULTS: The study involved 38 subjects with pathogenic sarcomere mutations and overt hypertrophic cardiomyopathy, 39 subjects with mutations but no left ventricular hypertrophy, and 30 controls who did not have mutations. Levels of serum C-terminal propeptide of type I procollagen (PICP) were significantly higher in mutation carriers without left ventricular hypertrophy and in subjects with overt hypertrophic cardiomyopathy than in controls (31% and 69% higher, respectively; P<0.001). The ratio of PICP to C-terminal telopeptide of type I collagen was increased only in subjects with overt hypertrophic cardiomyopathy, suggesting that collagen synthesis exceeds degradation. Cardiac MRI studies showed late gadolinium enhancement, indicating myocardial fibrosis, in 71% of subjects with overt hypertrophic cardiomyopathy but in none of the mutation carriers without left ventricular hypertrophy.
CONCLUSIONS: Elevated levels of serum PICP indicated increased myocardial collagen synthesis in sarcomere-mutation carriers without overt disease. This profibrotic state preceded the development of left ventricular hypertrophy or fibrosis visible on MRI. (Funded by the National Institutes of Health and others.
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5, and LTBP4 in 12 families with ARCL type I, we found bi-allelic FBLN5 mutations in two probands, whereas nine probands harbored biallelic mutations in LTBP4. FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms. Gastrointestinal and genitourinary tract involvement seems to be more severe in patients with LTBP4 mutations. Functional studies showed that most premature termination mutations in LTBP4 result in severely reduced mRNA and protein levels. This correlated with increased transforming growth factor-beta (TGFβ) activity. However, one mutation, c.4127dupC, escaped nonsense-mediated decay. The corresponding mutant protein (p.Arg1377Alafs(*) 27) showed reduced colocalization with fibronectin, leading to an abnormal morphology of microfibrils in fibroblast cultures, while retaining normal TGFβ activity. We conclude that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms
Professionalism, Golf Coaching and a Master of Science Degree: A commentary
As a point of reference I congratulate Simon Jenkins on tackling the issue of professionalism in coaching. As he points out coaching is not a profession, but this does not mean that coaching would not benefit from going through a professionalization process. As things stand I find that the stimulus article unpacks some critically important issues of professionalism, broadly within the context of golf coaching. However, I am not sure enough is made of understanding what professional (golf) coaching actually is nor how the development of a professional golf coach can be facilitated by a Master of Science Degree (M.Sc.). I will focus my commentary on these two issues
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.
Search for R-Parity Violating Decays of Scalar Fermions at LEP
A search for pair-produced scalar fermions under the assumption that R-parity
is not conserved has been performed using data collected with the OPAL detector
at LEP. The data samples analysed correspond to an integrated luminosity of
about 610 pb-1 collected at centre-of-mass energies of sqrt(s) 189-209 GeV. An
important consequence of R-parity violation is that the lightest supersymmetric
particle is expected to be unstable. Searches of R-parity violating decays of
charged sleptons, sneutrinos and squarks have been performed under the
assumptions that the lightest supersymmetric particle decays promptly and that
only one of the R-parity violating couplings is dominant for each of the decay
modes considered. Such processes would yield final states consisting of
leptons, jets, or both with or without missing energy. No significant
single-like excess of events has been observed with respect to the Standard
Model expectations. Limits on the production cross- section of scalar fermions
in R-parity violating scenarios are obtained. Constraints on the supersymmetric
particle masses are also presented in an R-parity violating framework analogous
to the Constrained Minimal Supersymmetric Standard Model.Comment: 51 pages, 24 figures, Submitted to Eur. Phys. J.
Measurement of the Hadronic Photon Structure Function F_2^gamma at LEP2
The hadronic structure function of the photon F_2^gamma is measured as a
function of Bjorken x and of the factorisation scale Q^2 using data taken by
the OPAL detector at LEP. Previous OPAL measurements of the x dependence of
F_2^gamma are extended to an average Q^2 of 767 GeV^2. The Q^2 evolution of
F_2^gamma is studied for average Q^2 between 11.9 and 1051 GeV^2. As predicted
by QCD, the data show positive scaling violations in F_2^gamma. Several
parameterisations of F_2^gamma are in agreement with the measurements whereas
the quark-parton model prediction fails to describe the data.Comment: 4 pages, 2 figures, to appear in the proceedings of Photon 2001,
Ascona, Switzerlan
A measurement of the tau mass and the first CPT test with tau leptons
We measure the mass of the tau lepton to be 1775.1+-1.6(stat)+-1.0(syst.) MeV
using tau pairs from Z0 decays. To test CPT invariance we compare the masses of
the positively and negatively charged tau leptons. The relative mass difference
is found to be smaller than 3.0 10^-3 at the 90% confidence level.Comment: 10 pages, 4 figures, Submitted to Phys. Letts.
Measurement of the B0 Lifetime and Oscillation Frequency using B0->D*+l-v decays
The lifetime and oscillation frequency of the B0 meson has been measured
using B0->D*+l-v decays recorded on the Z0 peak with the OPAL detector at LEP.
The D*+ -> D0pi+ decays were reconstructed using an inclusive technique and the
production flavour of the B0 mesons was determined using a combination of tags
from the rest of the event. The results t_B0 = 1.541 +- 0.028 +- 0.023 ps, Dm_d
= 0.497 +- 0.024 +- 0.025 ps-1 were obtained, where in each case the first
error is statistical and the second systematic.Comment: 17 pages, 4 figures, submitted to Phys. Lett.
First Measurement of Z/gamma* Production in Compton Scattering of Quasi-real Photons
We report the first observation of Z/gamma* production in Compton scattering
of quasi-real photons. This is a subprocess of the reaction e+e- to
e+e-Z/gamma*, where one of the final state electrons is undetected.
Approximately 55 pb-1 of data collected in the year 1997 at an e+e-
centre-of-mass energy of 183 GeV with the OPAL detector at LEP have been
analysed. The Z/gamma* from Compton scattering has been detected in the
hadronic decay channel. Within well defined kinematic bounds, we measure the
product of cross-section and Z/gamma* branching ratio to hadrons to be
(0.9+-0.3+-0.1) pb for events with a hadronic mass larger than 60 GeV,
dominated by (e)eZ production. In the hadronic mass region between 5 GeV and 60
GeV, dominated by (e)egamma* production, this product is found to be
(4.1+-1.6+-0.6) pb. Our results agree with the predictions of two Monte Carlo
event generators, grc4f and PYTHIA.Comment: 18 pages, LaTeX, 5 eps figures included, submitted to Physics Letters
Search for Higgs Bosons in e+e- Collisions at 183 GeV
The data collected by the OPAL experiment at sqrts=183 GeV were used to
search for Higgs bosons which are predicted by the Standard Model and various
extensions, such as general models with two Higgs field doublets and the
Minimal Supersymmetric Standard Model (MSSM). The data correspond to an
integrated luminosity of approximately 54pb-1. None of the searches for neutral
and charged Higgs bosons have revealed an excess of events beyond the expected
background. This negative outcome, in combination with similar results from
searches at lower energies, leads to new limits for the Higgs boson masses and
other model parameters. In particular, the 95% confidence level lower limit for
the mass of the Standard Model Higgs boson is 88.3 GeV. Charged Higgs bosons
can be excluded for masses up to 59.5 GeV. In the MSSM, mh > 70.5 GeV and mA >
72.0 GeV are obtained for tan{beta}>1, no and maximal scalar top mixing and
soft SUSY-breaking masses of 1 TeV. The range 0.8 < tanb < 1.9 is excluded for
minimal scalar top mixing and m{top} < 175 GeV. More general scans of the MSSM
parameter space are also considered.Comment: 49 pages. LaTeX, including 33 eps figures, submitted to European
Physical Journal
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