131 research outputs found
A negative answer to a question of Bass
In this companion paper to arXiv:0802.1928 we provide an example of an
isolated surface singularity over a number field such that but . This answers, negatively, a
question of Bass.Comment: The paper was previously part of arXiv:0802.192
Endoscopic placental laser coagulation in dichorionic and monochorionic triplet pregnancies
Objective: To report outcome of monochorionic (MC) and dichorionic (DC) triamniotic (TA) triplet pregnancies treated with endoscopic laser coagulation of communicating placental vessels for severe fetofetal transfusion syndrome (FFTS) and selective fetal growth restriction (sFGR).
Methods: Laser surgery was performed at 18 (15-24) weeks gestation in 11 MCTA and 33 DCTA pregnancies complicated by FFTS and 14 DCTA pregnancies complicated by sFGR. Data from our study and previous reports were pooled using meta-analytic techniques.
Results: Survival of at least one baby and survival among all fetuses was 97.0% and 72.7% in DCTA pregnancies with FFTS, 78.6% and 52.4% in DCTA pregnancies with sFGR and 81.8% and 39.4% in MCTA pregnancies with FFTS. In the combined data from our study and previous reports, the pooled survival rates in 132 DCTA pregnancies with FFTS were 94.4% and 76.1% and in 29 MCTA pregnancies with FFTS were 80.6% and 57.5%.
Conclusions: Survival after laser surgery is higher in DC triplets with FFTS than those with sFGR and in DC than MC triplets with FFTS
Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans
<p>Abstract</p> <p>Background</p> <p>We have analyzed the complete mitochondrial genomes of 22 <it>Pan paniscus </it>(bonobo, pygmy chimpanzee) individuals to assess the detailed mitochondrial DNA (mtDNA) phylogeny of this close relative of <it>Homo sapiens</it>.</p> <p>Results</p> <p>We identified three major clades among bonobos that separated approximately 540,000 years ago, as suggested by Bayesian analysis. Incidentally, we discovered that the current reference sequence for bonobo likely is a hybrid of the mitochondrial genomes of two distant individuals. When comparing spectra of polymorphic mtDNA sites in bonobos and humans, we observed two major differences: (i) Of all 31 bonobo mtDNA homoplasies, i.e. nucleotide changes that occurred independently on separate branches of the phylogenetic tree, 13 were not homoplasic in humans. This indicates that at least a part of the unstable sites of the mitochondrial genome is species-specific and difficult to be explained on the basis of a mutational hotspot concept. (ii) A comparison of the ratios of non-synonymous to synonymous changes (<it>d</it><sub><it>N</it></sub><it>/d</it><sub><it>S</it></sub>) among polymorphic positions in bonobos and in 4902 <it>Homo sapiens </it>mitochondrial genomes revealed a remarkable difference in the strength of purifying selection in the mitochondrial genes of the F<sub>0</sub>F<sub>1</sub>-ATPase complex. While in bonobos this complex showed a similar low value as complexes I and IV, human haplogroups displayed 2.2 to 7.6 times increased <it>d</it><sub><it>N</it></sub><it>/d</it><sub><it>S </it></sub>ratios when compared to bonobos.</p> <p>Conclusions</p> <p>Some variants of mitochondrially encoded subunits of the ATPase complex in humans very likely decrease the efficiency of energy conversion leading to production of extra heat. Thus, we hypothesize that the species-specific release of evolutionary constraints for the mitochondrial genes of the proton-translocating ATPase is a consequence of altered heat homeostasis in modern humans.</p
Betti numbers for numerical semigroup rings
We survey results related to the magnitude of the Betti numbers of numerical
semigroup rings and of their tangent cones.Comment: 22 pages; v2: updated references. To appear in Multigraded Algebra
and Applications (V. Ene, E. Miller Eds.
Super-heavy fermion material as metallic refrigerant for adiabatic demagnetization cooling
Low-temperature refrigeration is of crucial importance in fundamental
research of condensed matter physics, as the investigations of fascinating
quantum phenomena, such as superconductivity, superfluidity and quantum
criticality, often require refrigeration down to very low temperatures.
Currently, cryogenic refrigerators with He gas are widely used for cooling
below 1 Kelvin. However, usage of the gas is being increasingly difficult due
to the current world-wide shortage. Therefore, it is important to consider
alternative methods of refrigeration. Here, we show that a new type of
refrigerant, super-heavy electron metal, YbCoZn, can be used for
adiabatic demagnetization refrigeration, which does not require 3He gas. A
number of advantages includes much better metallic thermal conductivity
compared to the conventional insulating refrigerants. We also demonstrate that
the cooling performance is optimized in YbScCoZn by
partial Sc substitution with 0.19. The substitution induces chemical
pressure which drives the materials close to a zero-field quantum critical
point. This leads to an additional enhancement of the magnetocaloric effect in
low fields and low temperatures enabling final temperatures well below 100 mK.
Such performance has up to now been restricted to insulators. Since nearly a
century the same principle of using local magnetic moments has been applied for
adiabatic demagnetization cooling. This study opens new possibilities of using
itinerant magnetic moments for the cryogen-free refrigeration
Phenotypic Characterization of Autoreactive B Cells—Checkpoints of B Cell Tolerance in Patients with Systemic Lupus Erythematosus
DNA-reactive B cells play a central role in systemic lupus erythematosus (SLE); DNA antibodies precede clinical disease and in established disease correlate with renal inflammation and contribute to dendritic cell activation and high levels of type 1 interferon. A number of central and peripheral B cell tolerance mechanisms designed to control the survival, differentiation and activation of autoreactive B cells are thought to be disturbed in patients with SLE. The characterization of DNA-reactive B cells has, however, been limited by their low frequency in peripheral blood. Using a tetrameric configuration of a peptide mimetope of DNA bound by pathogenic anti-DNA antibodies, we can identify B cells producing potentially pathogenic DNA-reactive antibodies. We, therefore, characterized the maturation and differentiation states of peptide, (ds) double stranded DNA cross-reactive B cells in the peripheral blood of lupus patients and correlated these with clinical disease activity. Flow cytometric analysis demonstrated a significantly higher frequency of tetramer-binding B cells in SLE patients compared to healthy controls. We demonstrated the existence of a novel tolerance checkpoint at the transition of antigen-naïve to antigen-experienced. We further demonstrate that patients with moderately active disease have more autoreactive B cells in both the antigen-naïve and antigen-experienced compartments consistent with greater impairment in B cell tolerance in both early and late checkpoints in these patients than in patients with quiescent disease. This methodology enables us to gain insight into the development and fate of DNA-reactive B cells in individual patients with SLE and paves the way ultimately to permit better and more customized therapies
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo.
Mutations of the mitochondrial genome (mtDNA) underlie a substantial portion of mitochondrial disease burden. These disorders are currently incurable and effectively untreatable, with heterogeneous penetrance, presentation and prognosis. To address the lack of effective treatment for these disorders, we exploited a recently developed mouse model that recapitulates common molecular features of heteroplasmic mtDNA disease in cardiac tissue: the m.5024C>T tRNAAla mouse. Through application of a programmable nuclease therapy approach, using systemically administered, mitochondrially targeted zinc-finger nucleases (mtZFN) delivered by adeno-associated virus, we induced specific elimination of mutant mtDNA across the heart, coupled to a reversion of molecular and biochemical phenotypes. These findings constitute proof of principle that mtDNA heteroplasmy correction using programmable nucleases could provide a therapeutic route for heteroplasmic mitochondrial diseases of diverse genetic origin
Improvement in Peripheral Glucose Uptake After Gastric Bypass Surgery Is Observed Only After Substantial Weight Loss Has Occurred and Correlates with the Magnitude of Weight Lost
# 2009 The Author(s). This article is published with open access at Springerlink.com Introduction Altered gut and pancreatic hormone secretion may bolster resolution of insulin resistance after Roux-en-Y gastric bypass (RYGB), but the independent effects of weight loss and hormonal secretion on peripheral glucose disposal are unknown. Methods Two groups of nondiabetic morbidly obese patients were studied: RYGB followed by standardized caloric restriction (RYGB, n=12) or caloric restriction alone (diet, n=10). Metabolic evaluations (euglycemic–hyperinsulinemic clamp, meal tolerance test) were done at baseline and 14 days (both groups) and 6 months after RYGB
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