514 research outputs found
Concurrent malakoplakia of cervical lymph nodes and prostatic adenocarcinoma with bony metasta-sis: case report
An unusual case of malakoplakia of the cervical lymph nodes in a patient with bony metastasis from prostrate cancer is reported. An 80-year-old patient with metastatic prostatic cancer presented with bilateral cervical lymphadenopathy, and a hard cervical mass in the left supraclavicular re-gion. Biopsy of the lymph gland revealed the pres-ence of malakoplakia, with no evidence of metas-tatic prostatic carcinoma. Though co-existence of malakoplakia and adenocarcinoma within the pros-trate gland has been reported before, this case is unique, as it highlights the rare occurrence of malakoplakia involving distant nodes in a patient with bony metastatic prostate cancer. This report reflects the fact that things are not always what they seem in medicine, and not infrequently we come across a different pathology which mimics another
Finite temperature phase transition in full QCD with flavors of clover fermions at and 10
We present results for QCD with flavors of dynamical quarks using
nonperturbatively improved Wilson fermions at finite temperature on and lattices. We determine the transition
temperature in the range of quark masses .
After fixing the Maximal Abelian gauge we investigate the contribution of
Abelian monopoles to the Polyakov loop, Polyakov loop susceptibility and
confirm Abelian and monopole dominance in full QCD.Comment: Lattice2003(topology), 3 pages, 6 figure
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa
PURPOSE: To identify the gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in Pakistani families. METHODS: A cohort of consanguineous families with typical RP phenotype in patients was screened by homozygosity mapping using microsatellite markers that mapped close to 21 known arRP genes and five arRP loci. Mutation analysis was performed by direct sequencing of the candidate gene. RESULTS: In two families, RP21 and RP53, homozygosity mapping suggested RHO, the gene encoding rhodopsin, as a candidate disease gene on chromosome 3q21. In six out of seven affected members from the two families, direct sequencing of RHO identified a homozygous c.448G>A mutation resulting in the p.Glu150Lys amino acid change. This variant was first reported in PMK197, an Indian arRP family. Single nucleotide polymorphism analysis in RP21, RP53, and PMK197 showed a common disease-associated haplotype in the three families. CONCLUSIONS: In two consanguineous Pakistani families with typical arRP phenotype in the patients, we identified a disease-causing mutation (p.Glu150Lys) in the RHO gene. Single nucleotide polymorphism analysis suggests that the previously reported Indian family (PMK197) and the two Pakistani families studied here share the RHO p.Glu150Lys mutation due to a common ancestry
Novel gonadal characteristics in an aged bovine freemartin
The gonads from a five year old freemartin Holstein animal were subjected to morphological analysis and to immunohistochemistry using antibodies against developmental and functional markers. We demonstrate, for the first time, the retention of anti-mullerian hormone (AMH) producing intratubular cells (Sertoli cells) in the context of abundant steroidogenic interstitial cells, and structures consistent with clusters of luteal cells. This novel report describes the clinical, gross and histological findings accompanying this newly described gonadal immunophenotype, and its implication in the understanding of freemartin development
Predicting evolution and visualizing high-dimensional fitness landscapes
The tempo and mode of an adaptive process is strongly determined by the
structure of the fitness landscape that underlies it. In order to be able to
predict evolutionary outcomes (even on the short term), we must know more about
the nature of realistic fitness landscapes than we do today. For example, in
order to know whether evolution is predominantly taking paths that move upwards
in fitness and along neutral ridges, or else entails a significant number of
valley crossings, we need to be able to visualize these landscapes: we must
determine whether there are peaks in the landscape, where these peaks are
located with respect to one another, and whether evolutionary paths can connect
them. This is a difficult task because genetic fitness landscapes (as opposed
to those based on traits) are high-dimensional, and tools for visualizing such
landscapes are lacking. In this contribution, we focus on the predictability of
evolution on rugged genetic fitness landscapes, and determine that peaks in
such landscapes are highly clustered: high peaks are predominantly close to
other high peaks. As a consequence, the valleys separating such peaks are
shallow and narrow, such that evolutionary trajectories towards the highest
peak in the landscape can be achieved via a series of valley crossingsComment: 12 pages, 7 figures. To appear in "Recent Advances in the Theory and
Application of Fitness Landscapes" (A. Engelbrecht and H. Richter, eds.).
Springer Series in Emergence, Complexity, and Computation, 201
Massive binary black holes in galactic nuclei and their path to coalescence
Massive binary black holes form at the centre of galaxies that experience a
merger episode. They are expected to coalesce into a larger black hole,
following the emission of gravitational waves. Coalescing massive binary black
holes are among the loudest sources of gravitational waves in the Universe, and
the detection of these events is at the frontier of contemporary astrophysics.
Understanding the black hole binary formation path and dynamics in galaxy
mergers is therefore mandatory. A key question poses: during a merger, will the
black holes descend over time on closer orbits, form a Keplerian binary and
coalesce shortly after? Here we review progress on the fate of black holes in
both major and minor mergers of galaxies, either gas-free or gas-rich, in
smooth and clumpy circum-nuclear discs after a galactic merger, and in
circum-binary discs present on the smallest scales inside the relic nucleus.Comment: Accepted for publication in Space Science Reviews. To appear in hard
cover in the Space Sciences Series of ISSI "The Physics of Accretion onto
Black Holes" (Springer Publisher
Supermassive Black Hole Binaries: The Search Continues
Gravitationally bound supermassive black hole binaries (SBHBs) are thought to
be a natural product of galactic mergers and growth of the large scale
structure in the universe. They however remain observationally elusive, thus
raising a question about characteristic observational signatures associated
with these systems. In this conference proceeding I discuss current theoretical
understanding and latest advances and prospects in observational searches for
SBHBs.Comment: 17 pages, 4 figures. To appear in the Proceedings of 2014 Sant Cugat
Forum on Astrophysics. Astrophysics and Space Science Proceedings, ed.
C.Sopuerta (Berlin: Springer-Verlag
Spin asymmetry A_1^d and the spin-dependent structure function g_1^d of the deuteron at low values of x and Q^2
We present a precise measurement of the deuteron longitudinal spin asymmetry
A_1^d and of the deuteron spin-dependent structure function g_1^d at Q^2 < 1
GeV^2 and 4*10^-5 < x < 2.5*10^-2 based on the data collected by the COMPASS
experiment at CERN during the years 2002 and 2003. The statistical precision is
tenfold better than that of the previous measurement in this region. The
measured A_1^d and g_1^d are found to be consistent with zero in the whole
range of x.Comment: 17 pages, 10 figure
PRPH2 mutation update: in silico assessment of 245 reported and 7 novel variants in patients with retinal disease
Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 variants that have been discovered over the last decades, we surveyed all published PRPH2 variants up to July 2020, describing 720 index patients that in total carried 245 unique variants. In addition, we identified seven novel PRPH2 variants in eight additional index patients. The pathogenicity of all variants was determined using the ACMG guidelines. With this, 107 variants were classified as pathogenic, 92 as likely pathogenic, one as benign, and two as likely benign. The remaining 50 variants were classified as variants of uncertain significance. Interestingly, of the total 252 PRPH2 variants, more than half (n = 137) were missense variants. All variants were uploaded into the Leiden Open source Variation and ClinVar databases. Our study underscores the need for experimental assays for variants of unknown significance to improve pathogenicity classification, which would allow us to better understand genotype-phenotype correlations, and in the long-term, hopefully also support the development of therapeutic strategies for patients with PRPH2-associated IRD.Ophthalmic researc
Polarized deep-inelastic scattering from nuclei: a relativistic approach.
We discuss spin-dependent, deep-inelastic scattering from nuclei within a covariant framework. In the relativistic impulse approximation this is described in terms of the amplitude for forward, virtual-photon scattering from an off-mass-shell nucleon. The general structure of the off-shell nucleon hadronic tensor is derived, and the leading behavior of the off-shell nucleon structure functions computed in the Bjorken limit. The formalism, which is valid for nucleons bound inside nuclei with spin 1/2 or 1, is applied to the case of the deuteron.Piller, G. ; Melnitchouk, W. ; Thomas, A.W
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