Clinical Medicine (Scholarly Publications): Recent submissions
Now showing items 441-460 of 648
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
(2015)Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole ... -
Crossing barriers; restoring barriers? Filaggrin protein replacement takes a bow.
(2014)In this issue of the Journal, Stout and colleagues report a novel and creative approach to replacement of genetically determined absence or deficiency of epidermal proteins. While these early data are certainly interesting, ... -
Efavirenz- but not nevirapine-based antiretroviral therapy decreases exposure to the levonorgestrel released from a sub-dermal contraceptive implant.
(2014)INTRODUCTION: Sub-dermal hormone implants, such as levonorgestrel (LNG), are a safe and desirable form of long-acting contraception, but their use among HIV-positive women on antiretroviral therapy (ART) may be compromised ... -
Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study
(2015)Aims We investigated the presentation and screening patterns of an Irish cohort of BRCA1/2 mutation carriers with breast cancer. Materials and methods BRCA1/2 mutation carriers with breast cancer were identified in ... -
Optimally tolerated dose of lapatinib in combinationwith docetaxel plus trastuzumab in first-line treatmentof HER2-positive metastatic breast cancer
(2013)Background: This phase IB, open-label, dose-escalation study evaluated the safety, tolerability, and optimally tolerated regimen (OTR) of lapatinib in combination with docetaxel and trastuzumab in patients with ... -
Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer
(2015)Background: Germline BRCA mutations are associated with worse prostate cancer (PCa) outcomes; however, the most appropriate management for mutation carriers has not yet been investigated. Objective: To evaluate the ... -
Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE
(2013)Background Reliable estimates of cancer risk are critical for guiding management of BRCA1 and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates for breast cancer, ovarian cancer, ... -
Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis
(2015)Poriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis and, despite the larger estimated heritability for PsA, the majority of genetic susceptibility loci identified to date are shared ... -
Experimental Autoimmune Vasculitis An Animal Model of Anti-neutrophil Cytoplasmic Autoantibody-Associated Systemic Vasculitis
(2009)The morbidity burden associated with anti-neutrophil cytoplasmic autoantibody-associated vasculitis is increasing, and many novel biological therapies are now entering the drug development pipeline. There is thus an urgent ... -
Therapeutic effect of anti-TNF-alpha antibodies in an experimental model of anti-neutrophil cytoplasm antibody-associated systemic vasculitis.
(2006)The therapeutic options for anti-neutrophil cytoplasm antibody (ANCA)-associated systemic vasculitis (AASV) remain limited and hampered by adverse effects. One potential novel therapeutic avenue involves inhibition of ... -
Antineutrophil cytoplasm antibodies directed against myeloperoxidase augment leukocyte-microvascular interactions in vivo.
(2005)Systemic small vessel vasculitis is associated with antineutrophil cytoplasm antibodies (ANCAs). While there is mounting in vitro evidence to suggest that ANCAs are capable of enhancing leukocyte-endothelial interactions, ... -
Pyruvate Kinase M2 Regulates Hif-1alfa Activity and IL-1? Induction and Is a Critical Determinant of the Warburg Effect in LPS-Activated Macrophages.
(2015)TLR4-activated macrophages switch their metabolism from oxidative phosphorylation to glycolysis to rapidly provide for the high energy and biosynthetic demands of infection or injury response. Palsson-McDermott identify ... -
Anti-Neutrophil Cytoplasmic Antibodies Stimulate Release of Neutrophil Microparticles
(2012)The mechanisms by which anti-neutrophil cytoplasmic antibodies (ANCAs) may contribute to the pathogenesis of ANCA-associated vasculitis are not well understood. In this study, both polyclonal ANCAs isolated from patients ... -
Intravenous Cyclophosphamide and Plasmapheresis in Dialysis-Dependent ANCA-Associated Vasculitis
(2013)BACKGROUND AND OBJECTIVES: Induction therapy with oral cyclophosphamide (CYP) has been a mainstay of treatment in patients with severe renal failure secondary to ANCA-associated vasculitis (AAV). Recent evidence proposes ... -
Induction treatment of ANCA-associated vasculitis with a single dose of rituximab
(2014)Rituximab is effective in inducing remission in ANCA-associated vasculitis (AAV), with randomized evidence to support its use as four infusions of 375 mg/m(2) (the conventional lymphoma dosing schedule). As B cell depletion ... -
The characterisation and determinants of quality of life in ANCA associated vasculitis
(2014)OBJECTIVES: To contextualise and identify the determinants of poor health related quality of life (QOL) among patients with antineutrophil cytoplasm antibody (ANCA) associated vasculitis (AAV). METHODS: A multicentre ... -
Sterile inflammation - do innate lymphoid cell subsets play a role?
(2012)The recent identification of several novel innate lymphoid cell (iLC) subsets has increased our understanding of the mechanisms which link the innate and adaptive immune systems. While the contribution of these subsets ... -
Methodology and Design of a National Epidemiological Study on Adult Neuromuscular Disease
(2014)Background: There have been no previous population- based studies of adult neuromuscular disease (NMD) in the Republic of Ireland (RoI). This article describes methods and case-ascertainment strategies used to identify ... -
The effects of a home-based arm ergometry exercise programme on physical fitness, fatigue and activity in polio survivors: Protocol for a randomised controlled trial
(2012)Many Polio survivors have reduced mobility, pain and fatigue, which make access to conventional forms of aerobic exercise difficult. Inactivity leads to increased risk of health problems, many of which are prevalent among ...
