Intramedullary Spinal Schwannoma: Case Report and Review of Preoperative Magnetic Resonance Imaging Features

Intramedullary schwannomas are rare spinal cord tumours. Correct preoperative diagnosis is essential for proper surgical planning and complete resection. We present a case of cervical intramedullary schwannoma followed by discussion on its preoperative magnetic resonance imaging features and review of the literature

Lepton Dipole Moments and Rare Decays in the CP-violating MSSM with Nonuniversal Soft-Supersymmetry Breaking

We investigate the muon anomalous magnetic dipole moment (MDM), the muon electric dipole moment (EDM) and the lepton-flavour-violating decays of the $\tau-$lepton, $\tau \to \mu \gamma$ and $\tau\to 3\mu$, in the CP-violating Minimal Supersymmetric Standard Model (MSSM) with nonuniversal soft-supersymmetry breaking. We evaluate numerically the muon EDM and the branching ratios $B(\tau \to \mu\gamma)$ and $B(\tau \to 3\mu)$, after taking into account the experimental constraints from the electron EDM and muon MDM. Upon imposition of the experimental limits on our theoretical predictions for the aforementioned branching ratios and the muon MDM, we obtain an upper bound of about $10^{-23} e\cdot cm$ on the muon EDM which lies well within the explorable reach of the proposed experiment at BNL.Comment: Latex, 26 pages, 8 figures, accepted for publication in Phys. Rev.

Perturbative Approach to Higher Derivative Theories with Fermions

We extend the perturbative approach developed in an earlier work to deal with Lagrangians which have arbitrary higher order time derivative terms for both bosons and fermions. This approach enables us to find an effective Lagrangian with only first time derivatives order by order in the coupling constant. As in the pure bosonic case, to the first order, the quantized Hamiltonian is bounded from below whenever the potential is. We show in the example of a single complex fermion that higher derivative interactions result in an effective mass and change of vacuum for the low energy modes. The supersymmetric noncommutative Wess-Zumino model is considered as another example. We also comment on the higher derivative terms in Witten's string field theory and the effectiveness of level truncation.Comment: Latex, 21 pages, minor modification, ref. adde

A common variant near TGFBR3 is associated with primary open angle glaucoma

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabetes case-control study and 38,566 participants from the UK Biobank, for whom genotype array data were also available), we apply clinical standard-of-care gene variant curation for eight monogenic metabolic conditions. Rare variants causing monogenic diabetes and dyslipidemias display effect sizes significantly larger than the top 1% of the corresponding polygenic scores. Nevertheless, penetrance estimates for monogenic variant carriers average 60% or lower for most conditions. We assess epidemiologic and genetic factors contributing to risk prediction in monogenic variant carriers, demonstrating that inclusion of polygenic variation significantly improves biomarker estimation for two monogenic dyslipidemias

Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits : A Multi-Ethnic Meta-Analysis of 45,891 Individuals

J. Kaprio, S. Ripatti ja M.-L. Lokki työryhmien jäseniä.Peer reviewe

Study of a model Fermi liquid interacting via a hard-core repulsive potential and an attractive tail

In this paper we present an extensive microscopic study of the collective and single-particle properties of a model Fermi liquid whose particles interact via a repulsive hard-core potential and an attractive tail. The model system is intended to simulate liquid /sup 3/He. The study is based on an approximate scheme of Singwi, Tosi, Land and Sjoelander (STLS) which was devised to treat correlations in Coulomb Fermi liquids. The primary aim of this study is to learn whether the model system is capable of reproducing some of the salient features observed in normal liquid /sup 3/He, and about the role of the repulsive and attractive parts of the potential. We have calculated the Landau parameters F/sub 0//sup s/ and F/sub 0//sup a/ and their variation with pressure, the wave number and pressure dependence of the spin-symmetric and spin-anti-symmetric polarization potentials, pressure dependence of the dispersion of the zero sound, the static structure factors and the quasiparticle mass. Although we make no quantitative claims when comparing our calculations with experiments in real liquid /sup 3/He, we do conclude that our model system within the framework of the STLS scheme can account qualitatively for the latter. Besides, since the theory is microscopic in nature and is parameter free, it has enabled us to understand better the role of the repulsive and the attractive parts of the bare potential in determining the properties of liquid /sup 3/He. 27 figs., 2 tabs

Intramedullary Spinal Schwannoma: Case Report and Review of Preoperative Magnetic Resonance Imaging Features

Intramedullary schwannomas are rare spinal cord tumours. Correct preoperative diagnosis is essential for proper surgical planning and complete resection. We present a case of cervical intramedullary schwannoma followed by discussion on its preoperative magnetic resonance imaging features and review of the literature