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Wegener disease

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https://www.readbyqxmd.com/read/28416596/microrna-profiling-reveals-marker-of-motor-neuron-disease-in-als-models
#1
Mariah L Hoye, Erica D Koval, Amy J Wegener, Theodore S Hyman, Chengran Yang, David R O'Brien, Rebecca L Miller, Tracy Cole, Kathleen M Schoch, Tao Shen, Tomonori Kunikata, Jean-Philippe Richard, David H Gutmann, Nicholas J Maragakis, Holly B Kordasiewicz, Joseph D Dougherty, Timothy M Miller
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder marked by the loss of motor neurons (MNs) in the brain and spinal cord, leading to fatally debilitating weakness. Because this disease predominantly affects MNs, we aimed to characterize the distinct expression profile of that cell type in order to elucidate underlying disease mechanisms and identify novel targets that inform on MN health during ALS disease timecourse. microRNAs (miRNAs) are short, non-coding RNAs that can shape the expression profile of a cell and, consequently, often exhibit cell type enriched expression...
April 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28393058/extranodal-nk-t-cell-lymphoma-with-destruction-of-the-uvulae-a-case-report
#2
Farahzad Jabbari Azad, Zahra Delavarian, Masoud Hatami, Hosein Rahimi, Mohammad Reza Abdolvahed
INTRODUCTION: Extranodal Natural Killer (NK)/T-cell lymphoma (NKTCL) nasal type is a rare but well-known disease with poor prognosis. NKTCL is more prevalent in Asia and comprises about 7-10% of all non-Hodgkin lymphoma cases in this region. The characteristic clinical pattern of NKTCL is the destruction of the midline structures of the mid-face. CASE REPORT: The present study examines a case of NKTCL in a 23-year-old man with a destructive ulcer of the palate and uvulae...
March 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28391344/is-there-a-role-for-tnf%C3%AE-blockade-in-anca-associated-vasculitis-and-glomerulonephritis
#3
Stephen P McAdoo, Charles D Pusey
Tumour necrosis factor alpha (TNFα) is a cytokine that is pivotal in the inflammatory response. Blockade of TNFα has been shown to be effective in a number of human autoimmune diseases, including rheumatoid arthritis, raising the question of whether this approach may be effective in inflammatory kidney disease, such as ANCA-associated vasculitis (AAV). In AAV, there is considerable evidence for the role of TNFα in the pathophysiology of disease, including increased expression of TNFα mRNA in leucocytes and in renal tissue...
January 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28387944/th17-and-treg-lymphocytes-as-cellular-biomarkers-of-disease-activity-in-granulomatosis-with-polyangiitis
#4
Lorenzo Cosmi
Granulomatosis with Polyangiitis (GPA) (formerly known as Wegener's granulomatosis) is a vasculitis of unknown etiology affecting predominantly small- to medium-sized vessels, usually involving the upper and lower respiratory tract and kidneys. Anti-neutrophil cytoplasmic autoantibodies are probably the initial cause of the inflammatory process that leads to the typical necrotizing lesions. In this issue of the European Journal of Immunology, Szczeklik et al. [Eur. J. Immunol. 2017. 47: 724-733] report some interesting findings on the possible involvement of T-cell subsets in the pathogenesis of the disease...
April 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28345423/systemic-lupus-erythematosus-and-hearing-disorders-literature-review-and-meta-analysis-of-clinical-and-temporal-bone-findings
#5
Arianna Di Stadio, Massimo Ralli
Objective This literature review and meta-analysis was performed to evaluate the correlations among hearing and vestibular clinical symptoms, temporal bone findings, and pathological mechanisms in patients with systemic lupus erythematosus (SLE). Study design Relevant papers in the literature were retrospectively reviewed. Clinical hearing aspects in patients with SLE and relevant temporal bone studies in the same field were analyzed. Methods PubMed and Google Scholar searches were performed using the following keywords: "auto-immune disease," "systemic lupus erythematosus (SLE)," "hearing loss," "temporal bone study," "vertigo," "dizziness," "tinnitus," "ear symptoms," "treatment," "diagnosis," "symptoms," "etiopathogenesis," "Wegener granulomatosis," "Sjogren," "polyarteritis nodosa," "Cogan syndrome," and "granulomatosis...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28318198/-subglottic-stenosis-as-the-initial-manifestation-of-wegener-s-granulomatosis-in-a-teenager-case-report
#6
Giselle Cuestas, Verónica Rodríguez, Flavia Doormann, Alejandra Pringe, Patricio Bellia Munzón, Gastón Bellia Munzón, Carlos Ortega, Rubén Álvarez
Wegener's granulomatosis is a necrotizing granulomatous vasculitis of autoimmune origin that primarily affects the upper and lower airways and kidneys. It is very rare in children and adolescents. When started at a young age it is often associated with subglottic stenosis. Subglottic stenosis is a potentially fatal manifestation of Wegener's granulomatosis. Its diagnosis requires a high index of suspicion since it might develop in the absence of other signs of activity. Occasionally, subglottic stenosis may present as the initial manifestation of the disease...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28295009/-refractory-form-of-orbital-granulomatosis-with-polyangiitis-a-clinical-and-morphological-study
#7
E A Kogan, Ya O Grusha, D S Ismailova, P I Novikov, Yu V Abramova, A D Meshkov, E F Rizopulu
Orbital granulomatosis with polyangiitis (Wegener's granulomatosis, GPA), which is characterized by granulomatous inflammation with small-vessel vasculitis, can develop in local and generalized forms of the disease. The introduction of current immunosuppressive therapy regimens has improved the prognosis of the disease; however, there are immunosuppressive treatment-refractory forms of GPA, the morphology of which has been inadequately investigated. The paper describes a clinical case of refractory GPA involving the orbit, as evidenced by histological and immunohistochemical examinations...
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/28291390/efficacy-and-safety-of-anti-trop-2-antibody-drug-conjugate-sacituzumab-govitecan-immu-132-in-heavily-pretreated-patients-with-metastatic-triple-negative-breast-cancer
#8
Aditya Bardia, Ingrid A Mayer, Jennifer R Diamond, Rebecca L Moroose, Steven J Isakoff, Alexander N Starodub, Nikita C Shah, Joyce O'Shaughnessy, Kevin Kalinsky, Michael Guarino, Vandana Abramson, Dejan Juric, Sara M Tolaney, Jordan Berlin, Wells A Messersmith, Allyson J Ocean, William A Wegener, Pius Maliakal, Robert M Sharkey, Serengulam V Govindan, David M Goldenberg, Linda T Vahdat
Purpose Trop-2, expressed in most triple-negative breast cancers (TNBCs), may be a potential target for antibody-drug conjugates. Sacituzumab govitecan, an antibody-drug conjugate, targets Trop-2 for the selective delivery of SN-38, the active metabolite of irinotecan. Patients and Methods We evaluated sacituzumab govitecan in a single-arm, multicenter trial in patients with relapsed/refractory metastatic TNBC who received a 10 mg/kg starting dose on days 1 and 8 of 21-day repeated cycles. The primary end points were safety and objective response rate; secondary end points were progression-free survival and overall survival...
March 14, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28273603/rare-presentation-of-wegener-s-granulomatosis-in-the-pituitary-gland-case-report-and-literature-review
#9
Samantha M Baird, Upasna Pratap, Catriona McLean, Candice P Law, Nicholas Maartens
INTRODUCTION: Wegener's granulomatosis (WG) is a systemic vasculitis that can affect a variety of organs including ear, nose and throat, lungs and kidneys. However WG is unusual in the pituitary and rare in the central nervous system. PRESENTATION OF CASE: A 56-year-old male with likely WG presented with polyuria and polydipsia despite six months of conservative medical management. MRI scanning revealed an enlarging heterogeneously enhancing pituitary gland. Following endoscopic transsphenoidal pituitary biopsy and debulking, final tissue pathology was diagnostic for WG in the pituitary gland...
February 20, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28220286/characteristics-of-hypertrophic-pachymeningitis-in-patients-with-granulomatosis-with-polyangiitis
#10
Hyun Ah Choi, Mi Ji Lee, Chin-Sang Chung
Hypertrophic pachymeningitis (HP) is an important neurologic complication of granulomatosis with polyangiitis (GPA, formerly Wegener's granulomatosis). The aim of this study is to investigate the clinical features, radiological findings, and diagnostic pitfalls of GPA-related HP. A retrospective chart review was performed to screen patients diagnosed with GPA at Samsung Medical Center between 1997 and 2016. Neurologic manifestation, laboratory findings, neuroimaging data, and clinical course were evaluated in all patients...
April 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28210182/successful-cataract-surgery-in-a-patient-with-refractory-wegener-s-granulomatosis-effectively-treated-with-rituximab-a-case-report
#11
Abdullah M Alfawaz
Wegener's granulomatosis is a granulomatous disorder associated with systemic necrotizing vasculitis. Eye involvement occurs in approximately 50% of Wegener's granulomatosis patients and is an important cause of morbidity. Conventional treatment-related morbidity and failure have led to studies of alternative treatment modalities. In this case of a 35-year-old man with severe Wegener's granulomatosis, conventional therapy failed to induce remission. Despite the standard immunosuppressive therapy, progression of the disease was observed, mainly with ocular manifestations and renal impairment...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28196947/cohort-profile-the-welsh-geriatric-registrar-led-research-network-wegen-rationale-design-and-description
#12
Benjamin Jelley, Sara Long, John Butler, Jonathan Hewitt
PURPOSE: Medical trainees are required to undertake audit and quality improvement projects. They must also have an understanding of the principles of research and are encouraged to participate in research projects. However, the constraints of time, a lack of formal training and rotation between different training posts create barriers to audit cycle completion and pursuing research. This leads to trainees being reluctant to undertake research, facilitates poor quality research and risks incomplete audit...
February 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/28185705/cardiovascular-magnetic-resonance-imaging-pattern-at-the-time-of-diagnosis-of-treatment-na%C3%A3-ve-patients-with-connective-tissue-diseases
#13
Sophie Mavrogeni, George Markousis-Mavrogenis, Loukia Koutsogeorgopoulou, Theodoros Dimitroulas, Konstantinos Bratis, George D Kitas, Petros Sfikakis, Maria Tektonidou, Georgia Karabela, Efthymios Stavropoulos, Gikas Katsifis, Kyriaki A Boki, Anastasia Kitsiou, Vasiliki Filaditaki, Elias Gialafos, Sotiris Plastiras, Vasiliki Vartela, Genovefa Kolovou
BACKGROUND-AIM: Cardiac involvement at diagnosis of connective tissue disease (CTD) has been described by echocardiography. We hypothesized that cardio-vascular magnetic resonance (CMR) detects occult lesions at CTD diagnosis. PATIENTS-METHODS: CMR was performed early after diagnosis in 78 treatment-naïve CTDs (aged 43±11, 59F/19M) without cardiac involvement [5 Takayasu arteritis (TA), 4 Churg Strauss syndrome (CSS), 5 Wegener granulomatosis (WG), 16 systemic lupus erythematosus (SLE), 12 rheumatoid arthritis (RA), 8 mixed connective tissue diseases (MCTD), 12 ankylosing spondylitis (AS), 3 polymyalgia rheumatica (PMR), 8 systemic sclerosis (SSc) and 5 dermatomyositis (DM)]...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28162219/surgical-treatment-of-nasal-septal-perforations-sir-italian-society-of-rhinology-experts-opinion
#14
Desiderio Passali, Maria Carla Spinosi, Lorenzo Salerni, Michele Cassano, Hugo Rodriguez, Francesco Maria Passali, Luisa Maria Bellussi
BACKGROUND AND AIM: The aim of our study has been to investigate the perception of aspects related to nasal perforation among experts in Rhinology and ENT surgeons. Our aim was reporting the situations in different Countries to improve the knowledge of colleagues interested in this topic. METHODS: A panel of experts prepared a 20-question questionnaire regarding nasal perforations and their surgical repair, that were emailed to all the members of SIR (Società Italiana di Rnologia - Italian Society of Rhinology)...
February 2, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28139165/leber-hereditary-optic-neuropathy-due-to-a-new-nd1-mutation
#15
Patrick Soldath, Marianne Wegener, Birgit Sander, Thomas Rosenberg, Morten Duno, Flemming Wibrand, John Vissing
We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease...
January 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28123067/tau-reduction-prevents-neuronal-loss-and-reverses-pathological-tau-deposition-and-seeding-in-mice-with-tauopathy
#16
Sarah L DeVos, Rebecca L Miller, Kathleen M Schoch, Brandon B Holmes, Carey S Kebodeaux, Amy J Wegener, Guo Chen, Tao Shen, Hien Tran, Brandon Nichols, Tom A Zanardi, Holly B Kordasiewicz, Eric E Swayze, C Frank Bennett, Marc I Diamond, Timothy M Miller
Accumulation of hyperphosphorylated tau directly correlates with cognitive decline in Alzheimer's disease and other primary tauopathies. One therapeutic strategy may be to reduce total tau expression. We identified antisense oligonucleotides (ASOs) that selectively decreased human tau mRNA and protein in mice expressing mutant P301S human tau. After reduction of human tau in this mouse model of tauopathy, fewer tau inclusions developed, and preexisting phosphorylated tau and Thioflavin S pathology were reversed...
January 25, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28119348/a-pragmatic-approach-to-vasculitis-in-the-gastrointestinal-tract
#17
REVIEW
Runjan Chetty, Stefano Serra
Although vasculitis involving the gastrointestinal tract (GIT) is an uncommon occurrence, occasionally vasculitis can present as haemorrhagic infarction or ischaemia for which a length of bowel is removed. Invariably, the appropriate clinical history is not forthcoming, or vasculitis is not clinically suspected. The purpose of this overview is to provide the practising gastrointestinal (GI) pathologist with a framework to recognise and diagnose vasculitides within the GIT. The classification may be approached by aetiological agent or size of vessel involved; an international consensus group now favours the latter approach...
January 24, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28067125/value-of-non-identified-anca-non-pr3-non-mpo-in-the-diagnosis-of-granulomatosis-with-polyangiitis-wegener-s-granulomatosis
#18
Mélanie Givaudan, Frédéric Vandergheynst, Patrick Stordeur, Annick Ocmant, Christian Melot, Valérie Gangji, Muhammad S Soyfoo
OBJECTIVE: Determine the frequency of granulomatosis with polyangiitis (GPA) associated with non-identified ANCA (non-MPO, non-PR3 ANCA) and secondarily compare their clinic with GPA associated with MPO-positive or PR3-positive ANCA. METHODS: In a monocentric retrospective observational study, clinical data of 398 patients with non-identified ANCA (titer of ANCA at least 1/80 by immunofluorescence on ethanol fixed PMN) was gathered over a period of 6 years. GPA patients from this population were compared with GPA patients with identified ANCA on the basis of clinical, biological, immunological and histological features...
January 9, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28062909/paediatric-anti-neutrophil-cytoplasmic-antibody-anca-associated-vasculitis-an-update-on-renal-management
#19
REVIEW
Lucy A Plumb, Louise Oni, Stephen D Marks, Kjell Tullus
The anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) are a group of disorders characterized by necrotizing inflammation of the small to medium vessels in association with autoantibodies against the cytoplasmic region of the neutrophil. Included in this definition are granulomatosis with polyangiitis (GPA, formerly known as Wegener's granulomatosis), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (formerly known as Churg-Strauss syndrome). AAV are chronic, often relapsing diseases that can be organ or life threatening...
January 6, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28025926/clinical-and-economic-burden-of-elevated-blood-eosinophils-in-patients-with-and-without-uncontrolled-asthma
#20
Julian Casciano, Jerry Krishnan, Zenobia Dotiwala, Chenghui Li, Shawn X Sun
BACKGROUND: The European Respiratory Society and American Thoracic Society (ERS/ATS) published guidelines in 2014 for the evaluation and treatment of asthma. These guidelines draw attention to management of patients with asthma that remains uncontrolled despite therapy. One phenotypic characteristic of therapy-resistant asthma is eosinophil elevation. It is important to better understand the burden of care gaps in this patient subgroup in order to support improved treatment strategies in the future...
January 2017: Journal of Managed Care & Specialty Pharmacy
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