Background: Mutations in GDP-Mannose Pyrophosphorylase B (GMPPB) cause a spectrum of disease ranging from muscular dystrophy to congenital myasthenic syndrome (CMS). Recognition neuromuscular junction dysfunction has important treatment implications. Methods: We describe person with GMPPB mutation causing an overlapping limb girdle - robust response acetylcholinesterase inhibitors. review the l...

Abstract Introduction Providers will encounter transgender individuals in their practice, and it is important that they understand the unique challenges these face. Objective We sought to characterize transfeminine face seeking urological care through a developed questionnaire. Methods IRB approval was obtained develop (with community feedback) administer 58-item questionnaire assessing urinary...

THE ability of the liver to recovcr from ischcmia/rcperfusian (I/R) injury depends on the integrity of thc microcirculation. 1 It has been recently reported that endothelin (ET) plays a major role in the regulation of hepatic microcirculation.2 The aim of this study is to determine whether inhibition of the binding of endothelin to its receptors by a non-selective (ET 1\' ET B) receptor antagon...

BACKGROUND AND PURPOSE The risk factors of early hemorrhagic complications after endovascular coiling are not well-known. We identified the factors affecting early hemorrhagic complications, defined as any expansion or appearance of hemorrhage shown by head CT in the initial 48 hours after coiling. MATERIALS AND METHODS We retrospectively reviewed a series of 93 patients who underwent coiling...

ble present the results of an experimental study of two properties of the tau lepton performed with the MARK II detector in the SPEAR e+estorage ring at SLAC. The tau production cross section in e+eannihilation between 3.85 and 6.85 Gev in the center of mass has been measured using e-u events, and is consistent with the spin l/2, point cross section. The branching ratio product for the electron...

The nucleophilic dimethoxycarbene (DMC; 2) generated by thermal decomposition of 2,5dihydro-1,3,4-oxadiazole derivative 1 in boiling toluene reacts smoothly with N-(9H-fluoren-9-ylidene)-4methylbenzenesulfonamide (7b) to yield carbonimidoate derivative 10. A multi-step reaction pathway, initiated by the attack of DMC onto the C=N bond and followed by the migration of the sulfonyl group (or via ...