CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.

Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. Here we show that CMG2 is an important regulator of collagen VI homoeostasis. CMG2 loss of function promotes accumulation of collagen VI in patients, leading in particular to nodule formation. Similarly, collagen VI accumulates massively in uteri of Antxr2 <sup>-/-</sup> mice, which do not display changes in collagen gene expression, and leads to progressive fibrosis and sterility. Crossing Antxr2 <sup>-/-</sup> with Col6a1 <sup>-/-</sup> mice leads to restoration of uterine structure and reversion of female infertility. We also demonstrate that CMG2 may act as a signalling receptor for collagen VI and mediates its intracellular degradation

Two-point function of strangeness-carrying vector-currents in two-loop Chiral Perturbation Theory

We calculate the correlator between two external vector-currents having the quantum-numbers of a charged kaon. We give the renormalized expression to two loops in standard chiral perturbation theory in the isospin limit, which, as a physical result, is finite and scale-independent. Applications include a low energy theorem, valid at two loop order, of a flavor breaking combination of vector current correlators as well as a determination of the phenomenologically relevant finite $O(p^6)$-counterterm combination $Q_V$ by means of inverse moment finite energy sum rules. This determination is less sensitive to isospin-breaking effects than previous attempts.Comment: 24 pages, revtex, 4 figures, 2 tables, revised version, one ref. adde

First-principles calculations of the structural, electronic, vibrational and magnetic properties of C_{60} and C_{48}N_{12}: a comparative study

In this work, we perform first-principles calculations of the structural, electronic, vibrational and magnetic properties of a novel ${\rm C}_{48}{\rm N}_{12}$ azafullerene. Full geometrical optimization shows that ${\rm C}_{48}{\rm N}_{12}$ is characterized by several distinguishing features: only one nitrogen atom per pentagon, two nitrogen atoms preferentially sitting in one hexagon, ${\rm S}_{6}$ symmetry, 6 unique nitrogen-carbon and 9 unique carbon-carbon bond lengths. The highest occupied molecular orbital of ${\rm C}_{48}{\rm N}_{12}$ is a doubly degenerate level of $a_{g}$ symmetry and its lowest unoccupied molecular orbital is a nondegenerate level of $a_{u}$ symmetry. Vibrational frequency analysis predicts that ${\rm C}_{48}{\rm N}_{12}$ has in total 116 vibrational modes: 58 infrared-active and 58 Raman-active modes. ${\rm C}_{48}{\rm N}_{12}$ is also characterized by 8 $^{13}{\rm C}$ and 2 $^{15}{\rm N}$ NMR spectral signals. Compared to ${\rm C}_{60}$, ${\rm C}_{48}{\rm N}_{12}$ shows an enhanced third-order optical nonlinearities which implies potential applications in optical limiting and photonics.Comment: a long version of our manuscript submitted to J.Chem.Phy

Risk Factors Promoting Hypertensive Crises: Evidence From a Longitudinal Study

Background Current knowledge about risk factors promoting hypertensive crisis originates from retrospective data. Therefore, potential risk factors of hypertensive crisis were assessed in a prospective longitudinal study. Methods Eighty-nine patients of the medical outpatient unit at the University Hospital of Bern (Bern, Switzerland) with previously diagnosed hypertension participated in this study. At baseline, 33 potential risk factors were assessed. All patients were followed-up for the outcome of hypertensive crisis. Cox regression models were used to detect relationships between risk factors and hypertensive crisis (defined as acute rise of systolic blood pressure (BP) ≥200mmHg and/or diastolic BP ≥120mmHg). Results The mean duration of follow-up was 1.6 ± 0.3 years (range 1.0-2.4 years). Four patients (4.5%) were lost to follow-up. Thirteen patients (15.3%) experienced hypertensive crisis during follow-up. Several potential risk factors were significantly associated with hypertensive crisis: female sex, higher grades of obesity, the presence of a hypertensive or coronary heart disease, the presence of a somatoform disorder, a higher number of antihypertensive drugs, and nonadherence to medication. As measured by the hazard ratio, nonadherence was the most important factor associated with hypertensive crisis (hazard ratio 5.88, 95% confidence interval 1.59-21.77, P < 0.01). Conclusions This study identified several potential risk factors of hypertensive crisis. Results of this study are consistent with the hypothesis that improvement of medical adherence in antihypertensive therapy would help to prevent hypertensive crises. However, larger studies are needed to assess potential confounding, other risk factors and the possibility of interaction between predictor

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. Herein we present successful bisphosphonate therapy in three affected patients. Patients were treated with bisphosphonates (either pamidronate or zoledronate) for different time periods. The following outcome variables were assessed: skeletal pain, range of motion, bone densitometry, internal medical problems as well as neurocognitive function. Skeletal pain was dramatically reduced in all patients soon after initiation of therapy and bone mineral density increased. Range of motion did not significantly improve. One patient is still able to walk with aids at the age of 14 years. Neurocognitive development was normal in all patients. Bisphosphonate therapy was effective especially in controlling skeletal pain in MONA spectrum disorder. Early initiation of treatment seems to be particularly important in order to achieve the best possible outcome

Lifetime of d-holes at Cu surfaces: Theory and experiment

We have investigated the hole dynamics at copper surfaces by high-resolution angle-resolved photoemission experiments and many-body quasiparticle GW calculations. Large deviations from a free-electron-like picture are observed both in the magnitude and the energy dependence of the lifetimes, with a clear indication that holes exhibit longer lifetimes than electrons with the same excitation energy. Our calculations show that the small overlap of d- and sp-states below the Fermi level is responsible for the observed enhancement. Although there is qualitative good agreement of our theoretical predictions and the measured lifetimes, there still exist some discrepancies pointing to the need of a better description of the actual band structure of the solid.Comment: 15 pages, 7 figures, 1 table, to appear in Phys. Rev.

Pion Generalized Dipole Polarizabilities by Virtual Compton Scattering πe→πeγ\pi e \to \pi e\gamma

We present a calculation of the cross section and the event generator of the reaction $\pi e\to \pi e \gamma$. This reaction is sensitive to the pion generalized dipole polarizabilities, namely, the longitudinal electric $\alpha_L(q^2)$, the transverse electric $\alpha_T(q^2)$, and the magnetic $\beta(q^2)$ which, in the real-photon limit, reduce to the ordinary electric and magnetic polarizabilities $\bar{\alpha}$ and $\bar{\beta}$, respectively. The calculation of the cross section is done in the framework of chiral perturbation theory at ${\cal O}(p^4)$. A pion VCS event generator has been written which is ready for implementation in GEANT simulation codes or for independent use.Comment: 33 pages, Revtex, 15 figure