http://hdl.handle.net/10147/128163 Wed, 19 Jun 2013 06:22:37 GMT 2013-06-19T06:22:37Z http://www.lenus.ie:80/hse/retrieve/281576/MaterCrest.gif http://hdl.handle.net/10147/128163 http://hdl.handle.net/10147/292975 Title: Insights into thermoregulation: A clinico-radiological description of Shapiro syndrome. Authors: Pazderska, Agnieszka; O'Connell, Martin; Pender, Niall; Gavin, Claire; Murray, Brian; O'Dowd, Seán Abstract: Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. Fewer than 50 cases have been described, almost invariably in patients presenting in childhood or early adulthood. We present a case of an 80year old woman presenting with recurrent bouts of shivering, sweating and profound malaise, who sought medical attention because the frequency and severity of attacks worsened in her later years. MRI Brain demonstrated agenesis of the corpus callosum; a rigorous work-up excluded other causes for her symptomatology. The intricate interplay of neuronal networks involved in thermoregulation remains to be fully elucidated and as such, little is known about the pathophysiological mechanisms underlying the clinical manifestations of Shapiro syndrome. We present novel data from FDG-PET imaging of our patient, demonstrating hypermetabolism in a number of brainstem and cerebellar regions during the symptomatic phase. These findings imply that aberrant thermoregulation in Shapiro syndrome involves a number of structures remote from the callosal region. We also present neuropsychometric findings in our patient, of which there have been no reports to date. We postulate that the ageing brain may be more susceptible to the paroxysmal neurochemical fluxes implicated in the syndrome. Sat, 15 Jun 2013 00:00:00 GMT http://hdl.handle.net/10147/292975 2013-06-15T00:00:00Z http://hdl.handle.net/10147/292754 Title: Granulomatosis with polyangiitis masquerading as giant cell arteritis. Authors: McCarthy, A; Farrell, M; Hedley-Whyte, T; McGuone, D; Kavanagh, E; McNally, S; Keogan, M; Horgan, N; Lynch, T; O'Rourke, K Sat, 13 Apr 2013 00:00:00 GMT http://hdl.handle.net/10147/292754 2013-04-13T00:00:00Z http://hdl.handle.net/10147/292610 Title: Breast cancer genomics: challenges in interpretation and application. Authors: Kelly, Cathy M; Symmans, W Fraser; Andreopoulou, Eleni; Bianchini, Giampaolo Tue, 01 Jan 2013 00:00:00 GMT http://hdl.handle.net/10147/292610 2013-01-01T00:00:00Z http://hdl.handle.net/10147/292506 Title: Case 1: Chronic thromboembolic pulmonary hypertension (CTEPH) Authors: Murphy, DT; Murphy, DM; Murray, JG; Gaine, SP Abstract: A 32 year-old man was referred to the pulmonary hypertension unit with increasing dyspnoea and multiple recent syncopal episodes. He had suffered a pulmonary embolism at the age of 17 and had received an appropriate course of warfarin therapy. Afterwards, he had remained well and in full-time employment until a recent presentation to his local hospital with increasing dyspnoea and syncope occurring episodically over a period of a few months. A computed tomographic pulmonary angiogram (CTPA) performed there was reported as showing evidence of pulmonary embolus. Wed, 01 May 2013 00:00:00 GMT http://hdl.handle.net/10147/292506 2013-05-01T00:00:00Z