45 research outputs found
A decade of living lobar lung transplantation: recipient outcomes
AbstractObjectiveLiving lobar lung transplantation was developed as a procedure for patients considered too ill to await cadaveric transplantation.MethodsOne hundred twenty-eight living lobar lung transplantations were performed in 123 patients between 1993 and 2003. Eighty-four patients were adults (age, 27 ± 7.7 years), and 39 were pediatric patients (age, 13.9 ± 2.9 years).ResultsThe primary indication for transplantation was cystic fibrosis (84%). At the time of transplantation, 67.5% of patients were hospitalized, and 17.9% were intubated. One-, 3-, and 5-year actuarial survival among living lobar recipients was 70%, 54%, and 45%, respectively. There was no difference in actuarial survival between adult and pediatric living lobar recipients (P = .65). There were 63 deaths among living lobar recipients, with infection being the predominant cause (53.4%), followed by obliterative bronchiolitis (12.7%) and primary graft dysfunction (7.9%). The overall incidence of acute rejection was 0.8 episodes per patient. Seventy-eight percent of rejection episodes were unilateral. Age, sex, indication, donor relationship, preoperative hospitalization status, use of preoperative steroids, and HLA-A, HLA-B, and HLA-DR typing did not influence survival. However, patients on ventilators preoperatively had significantly worse outcomes (odds ratio, 3.06, P = .03; Kaplan-Meier P = .002), and those undergoing retransplantation had an increased risk of death (odds ratio, 2.50).ConclusionThese results support the continued use of living lobar lung transplantation in patients deemed unable to await a cadaveric transplantation. We consider patients undergoing retransplantations and intubated patients to be at significantly high risk because of the poor outcomes in these populations
Search for lepton-flavor violation at HERA
A search for lepton-flavor-violating interactions and has been performed with the ZEUS detector using the entire HERA I
data sample, corresponding to an integrated luminosity of 130 pb^{-1}. The data
were taken at center-of-mass energies, , of 300 and 318 GeV. No
evidence of lepton-flavor violation was found, and constraints were derived on
leptoquarks (LQs) that could mediate such interactions. For LQ masses below
, limits were set on , where
is the coupling of the LQ to an electron and a
first-generation quark , and is the branching ratio of
the LQ to the final-state lepton ( or ) and a quark . For
LQ masses much larger than , limits were set on the four-fermion
interaction term for LQs that couple to an electron and a quark
and to a lepton and a quark , where and are
quark generation indices. Some of the limits are also applicable to
lepton-flavor-violating processes mediated by squarks in -Parity-violating
supersymmetric models. In some cases, especially when a higher-generation quark
is involved and for the process , the ZEUS limits are the most
stringent to date.Comment: 37 pages, 10 figures, Accepted by EPJC. References and 1 figure (Fig.
6) adde
Multijet production in neutral current deep inelastic scattering at HERA and determination of alpha_s
Multijet production rates in neutral current deep inelastic scattering have
been measured in the range of exchanged boson virtualities 10 < Q2 < 5000 GeV2.
The data were taken at the ep collider HERA with centre-of-mass energy sqrt(s)
= 318 GeV using the ZEUS detector and correspond to an integrated luminosity of
82.2 pb-1. Jets were identified in the Breit frame using the k_T cluster
algorithm in the longitudinally invariant inclusive mode. Measurements of
differential dijet and trijet cross sections are presented as functions of jet
transverse energy E_{T,B}{jet}, pseudorapidity eta_{LAB}{jet} and Q2 with
E_{T,B}{jet} > 5 GeV and -1 < eta_{LAB}{jet} < 2.5. Next-to-leading-order QCD
calculations describe the data well. The value of the strong coupling constant
alpha_s(M_Z), determined from the ratio of the trijet to dijet cross sections,
is alpha_s(M_Z) = 0.1179 pm 0.0013(stat.) {+0.0028}_{-0.0046}(exp.)
{+0.0064}_{-0.0046}(th.)Comment: 22 pages, 5 figure
Measurement of charm fragmentation ratios and fractions in photoproduction at HERA
The production of D^*+, D^0, D^+, D_s^+ and Lambda_c^+ charm hadrons and
their antiparticles in ep scattering at HERA was measured with the ZEUS
detector using an integrated luminosity of 79 pb^-1. The measurement has been
performed in the photoproduction regime with the exchanged-photon virtuality
Q^2 < 1 GeV^2 and for photon-proton centre-of-mass energies in the range 130 <
W < 300 GeV. The charm hadrons were reconstructed in the range of transverse
momentum p_T(D, Lambda_c) > 3.8 GeV and pseudorapidity |eta(D, Lambda_c)| <
1.6. The production cross sections were used to determine the ratio of neutral
and charged D-meson production rates, R_u/d, the strangeness-suppression
factor, gamma_s, and the fraction of charged D mesons produced in a vector
state, P_v^d. The measured R_u/d and gamma_s values agree with those obtained
in deep inelastic scattering and in e^+e^- annihilations. The measured P_v^d
value is smaller than, but consistent with, the previous measurements. The
fractions of c quarks hadronising as a particular charm hadron, f(c -> D,
Lambda_c), were derived in the given kinematic range. The measured open-charm
fragmentation fractions are consistent with previous results, although the
measured f(c -> D^*+) is smaller and f(c -> Lambda_c^+) is larger than those
obtained in e^+e^- annihilations. These results generally support the
hypothesis that fragmentation proceeds independently of the hard sub-process.Comment: 29 pages, 5 figures, 6 tables; minor text revision
Inclusive jet cross sections and dijet correlations in photoproduction at HERA
Inclusive jet cross sections in photoproduction for events containing a
meson have been measured with the ZEUS detector at HERA using an integrated
luminosity of . The events were required to have a
virtuality of the incoming photon, , of less than 1 GeV, and a
photon-proton centre-of-mass energy in the range . The measurements are compared with next-to-leading-order (NLO) QCD
calculations. Good agreement is found with the NLO calculations over most of
the measured kinematic region. Requiring a second jet in the event allowed a
more detailed comparison with QCD calculations. The measured dijet cross
sections are also compared to Monte Carlo (MC) models which incorporate
leading-order matrix elements followed by parton showers and hadronisation. The
NLO QCD predictions are in general agreement with the data although differences
have been isolated to regions where contributions from higher orders are
expected to be significant. The MC models give a better description than the
NLO predictions of the shape of the measured cross sections.Comment: 43 pages, 12 figures, charm jets ZEU
Dissociation of virtual photons in events with a leading proton at HERA
The ZEUS detector has been used to study dissociation of virtual photons in
events with a leading proton, gamma^* p -> X p, in e^+p collisions at HERA. The
data cover photon virtualities in two ranges, 0.03<Q^2<0.60 GeV^2 and 2<Q^2<100
GeV^2, with M_X>1.5 GeV, where M_X is the mass of the hadronic final state, X.
Events were required to have a leading proton, detected in the ZEUS leading
proton spectrometer, carrying at least 90% of the incoming proton energy. The
cross section is presented as a function of t, the squared four-momentum
transfer at the proton vertex, Phi, the azimuthal angle between the positron
scattering plane and the proton scattering plane, and Q^2. The data are
presented in terms of the diffractive structure function, F_2^D(3). A
next-to-leading-order QCD fit to the higher-Q^2 data set and to previously
published diffractive charm production data is presented
Study of deep inelastic inclusive and diffractive scattering with the ZEUS forward plug calorimeter
Deep inelastic scattering and its diffractive component, ep -> e'gamma*p
->e'XN, have been studied at HERA with the ZEUS detector using an integrated
luminosity of 4.2 pb-1. The measurement covers a wide range in the gamma*p c.m.
energy W (37 - 245 GeV), photon virtuality Q2 (2.2 - 80 GeV2) and mass Mx. The
diffractive cross section for Mx > 2 GeV rises strongly with W; the rise is
steeper with increasing Q2. The latter observation excludes the description of
diffractive deep inelastic scattering in terms of the exchange of a single
Pomeron. The ratio of diffractive to total cross section is constant as a
function of W, in contradiction to the expectation of Regge phenomenology
combined with a naive extension of the optical theorem to gamma*p scattering.
Above Mx of 8 GeV, the ratio is flat with Q2, indicating a leading-twist
behaviour of the diffractive cross section. The data are also presented in
terms of the diffractive structure function, F2D(3)(beta,xpom,Q2), of the
proton. For fixed beta, the Q2 dependence of xpom F2D(3) changes with xpom in
violation of Regge factorisation. For fixed xpom, xpom F2D(3) rises as beta ->
0, the rise accelerating with increasing Q2. These positive scaling violations
suggest substantial contributions of perturbative effects in the diffractive
DIS cross section.Comment: 87 pages, 25 figure
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.Peer reviewe
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive web-based survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features