687 research outputs found
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations. The phenotypic data show that these previously described disease entities have considerable overlap, and represent a spectrum. While this spectrum overlaps with Proteus syndrome (sporadic, mosaic, and progressive) it can be distinguished by the absence of cerebriform connective tissue nevi and a distinct natural history. Vascular malformations were found in 15/35 (43%) and epidermal nevi in 4/35 (11%) patients, lower than in Proteus syndrome. Unlike Proteus syndrome, 31/35 (89%) patients with PIK3CA mutations had congenital overgrowth, and in 35/35 patients this was asymmetric and disproportionate. Overgrowth was mild with little postnatal progression in most, while in others it was severe and progressive requiring multiple surgeries. Novel findings include: adipose dysregulation present in all patients, unilateral overgrowth that is predominantly left-sided, overgrowth that affects the lower extremities more than the upper extremities and progresses in a distal to proximal pattern, and in the most severely affected patients is associated with marked paucity of adipose tissue in unaffected areas. While the current data are consistent with some genotype-phenotype correlation, this cannot yet be confirmed
Snipe taxonomy based on vocal and non-vocal sound displays: the South American Snipe is two species
We analysed breeding sounds of the two subspecies of South American Snipe Gallinago paraguaiae paraguaiae and Gallinago paraguaiae magellanica to determine whether they might be different species: loud vocalizations given on the ground, and the tailâgenerated Winnow given in aerial display. Sounds of the two taxa differ qualitatively and quantitatively. Both taxa utter two types of ground call. In G. p. paraguaiae, the calls are bouts of identical sound elements repeated rhythmically and slowly (about five elements per second (Hz)) or rapidly (about 11 Hz). One call of G. p. magellanica is qualitatively similar to those of G. p. paraguaiae but sound elements are repeated more slowly (about 3 Hz). However, its other call type differs strikingly: it is a bout of rhythmically repeated sound couplets, each containing two kinds of sound element. The Winnow of G. p. paraguaiae is a series of sound elements that gradually increase in duration and energy; by contrast, that of G. p. magellanica has two or more kinds of sound element that roughly alternate and are repeated as sets, imparting a stuttering quality. Sounds of the related Puna Snipe (Gallinago andina) resemble but differ quantitatively from those of G. p. paraguaiae. Differences in breeding sounds of G. p. paraguaiae and G. p. magellanica are strong and hold throughout their geographical range. Therefore we suggest that the two taxa be considered different species: G. paraguaiae east of the Andes in much of South America except Patagonia, and G. magellanica in central and southern Chile, Argentina east of the Andes across Patagonia, and Falklands/Malvinas.Fil: Miller, Edward H.. Memorial University Of Newfoundland; CanadĂĄFil: Areta, Juan Ignacio. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Centro CientĂfico TecnolĂłgico Conicet - Salta. Instituto de Bio y Geociencias del NOA. Universidad Nacional de Salta. Facultad de Ciencias Naturales. Museo de Ciencias Naturales. Instituto de Bio y Geociencias del NOA; ArgentinaFil: Jaramillo, Alvaro. San Francisco Bay Bird Observatory; Estados UnidosFil: Imberti, Santiago. AsociaciĂłn Ambiente Sur, Rio Gallegos; ArgentinaFil: Matus, Ricardo. KilĂłmetro 7 Sur; Chil
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 (anti)deuteron and (anti)proton production in DIS at HERA
The first observation of (anti)deuterons in deep inelastic scattering at HERA
has been made with the ZEUS detector at a centre-of-mass energy of 300--318 GeV
using an integrated luminosity of 120 pb-1. The measurement was performed in
the central rapidity region for transverse momentum per unit of mass in the
range 0.3<p_T/M<0.7. The particle rates have been extracted and interpreted in
terms of the coalescence model. The (anti)deuteron production yield is smaller
than the (anti)proton yield by approximately three orders of magnitude,
consistent with the world measurements.Comment: 26 pages, 9 figures, 5 tables, submitted to Nucl. Phys.
Photoproduction of mesons associated with a leading neutron
The photoproduction of mesons associated with a leading
neutron has been observed with the ZEUS detector in collisions at HERA
using an integrated luminosity of 80 pb. The neutron carries a large
fraction, {}, of the incoming proton beam energy and is detected at
very small production angles, { mrad}, an indication of
peripheral scattering. The meson is centrally produced with
pseudorapidity {
GeV}, which is large compared to the average transverse momentum of the neutron
of 0.22 GeV. The ratio of neutron-tagged to inclusive production is
in the photon-proton
center-of-mass energy range { GeV}. The data suggest that the
presence of a hard scale enhances the fraction of events with a leading neutron
in the final state.Comment: 28 pages, 4 figures, 2 table
Measurement of the open-charm contribution to the diffractive proton structure function
Production of D*+/-(2010) mesons in diffractive deep inelastic scattering has
been measured with the ZEUS detector at HERA using an integrated luminosity of
82 pb^{-1}. Diffractive events were identified by the presence of a large
rapidity gap in the final state. Differential cross sections have been measured
in the kinematic region 1.5 < Q^2 < 200 GeV^2, 0.02 < y < 0.7, x_{IP} < 0.035,
beta 1.5 GeV and |\eta(D*+/-)| < 1.5. The measured cross
sections are compared to theoretical predictions. The results are presented in
terms of the open-charm contribution to the diffractive proton structure
function. The data demonstrate a strong sensitivity to the diffractive parton
densities.Comment: 35 pages, 11 figures, 6 table
Measurement of beauty production in deep inelastic scattering at HERA
The beauty production cross section for deep inelastic scattering events with
at least one hard jet in the Breit frame together with a muon has been
measured, for photon virtualities Q^2 > 2 GeV^2, with the ZEUS detector at HERA
using integrated luminosity of 72 pb^-1. The total visible cross section is
sigma_b-bbar (ep -> e jet mu X) = 40.9 +- 5.7 (stat.) +6.0 -4.4 (syst.) pb. The
next-to-leading order QCD prediction lies about 2.5 standard deviations below
the data. The differential cross sections are in general consistent with the
NLO QCD predictions; however at low values of Q^2, Bjorken x, and muon
transverse momentum, and high values of jet transverse energy and muon
pseudorapidity, the prediction is about two standard deviations below the data.Comment: 18 pages, 4 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
Observation of isolated high-E_T photons in deep inelastic scattering
First measurements of cross sections for isolated prompt photon production in
deep inelastic ep scattering have been made using the ZEUS detector at the HERA
electron-proton collider using an integrated luminosity of 121 pb^-1. A signal
for isolated photons in the transverse energy and rapidity ranges 5 < E_T^gamma
< 10 GeV and -0.7 < eta^gamma < 0.9 was observed for virtualities of the
exchanged photon of Q^2 > 35 GeV^2. Cross sections are presented for inclusive
prompt photons and for those accompanied by a single jet in the range E_T^jet
\geq 6 GeV and -1.5 \leq eta^jet < 1.8. Calculations at order alpha^3alpha_s
describe the data reasonably well.Comment: 16 pages, 5 figure
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