IceHEP High Energy Physics at the South Pole

With the solar and SN87 neutrino observations as proofs of concepts, the kilometer-scale neutrino experiment IceCube will scrutinize its data for new particle physics. In this paper we review the prospects for the realization of such a program. We begin with a short overview of the detector response and discuss the reach of ``beam'' luminosity. After that we discuss the potential of IceCube to probe deviations of neutrino-nucleon cross sections from the Standard Model predictions at center-of-mass energies well beyond those accessible in man-made accelerators. Then we review the prospects for extremely long-baseline analyses and discuss the sensitivity to measure tiny deviations of the flavor mixing angle, expected to be induced by quantum gravity effects. Finally we discuss the potential to uncover annihilation of dark matter particles gravitationally trapped at the center of the Sun, as well as processes occurring in the early Universe at energies close to the Grand Unification scale.Comment: Typos corrected and references added. Version with high resolution figures available at http://www.hep.physics.neu.edu/staff/doqui/icehep_rev6.p

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), and multicentric osteolysis, nodulosis, and arthropathy (MONA) are ultra-rare multisystem disorders characterized by craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. These autosomal recessive syndromes are caused by homozygous mutation or deletion of respectively SH3PXD2B (SH3 and PX Domains 2B), MMP14 (matrix metalloproteinase 14), or MMP2. Here, we give an overview of the clinical features of 63 previously reported patients with an SH3PXD2B, MMP14, or MMP2 mutation, demonstrating considerable clinical overlap between FTHS, WS, and MONA. Interestingly, the protein products of SH3PXD2B, MMP14, and MMP2 directly cooperate in collagen remodeling. We review animal models for these three disorders that accurately reflect the major clinical features and likewise show significant phenotypical similarity with each other. Furthermore, they demonstrate that defective collagen remodeling is central in the underlying pathology. As such, we propose a nosological revision, placing these SH3PXD2B, MMP14, and MMP2 related syndromes in a novel “defective collagen-remodelling spectrum (DECORS)”. In our opinion, this revised nosology better reflects the central role for impaired collagen remodeling, a potential target for pharmaceutical intervention