Results 51 to 60 of about 1,933 (142)

A Unique Case of Relapsing Polychondritis Presenting with Acute Pericarditis

Case Reports in Rheumatology, 2013
Relapsing polychondritis (RP) is an inflammatory disease of the cartilaginous tissue primarily affecting the cartilaginous structures of the ear, nose, joints, and the respiratory system.
John V. Higgins, Uma Thanarajasingam, Thomas G. Osborn   +2 more
doaj   +1 more source

Relapsing Polychondritis: An Updated Review

Biomedicines, 2018
Relapsing polychondritis is an immune-mediated systemic disease characterized by recurrent episodes of inflammation of cartilaginous and proteoglycan-rich tissues, resulting in progressive anatomical deformation and functional impairment of the involved ...
Francesco Borgia, Roberta Giuffrida, Fabrizio Guarneri, Serafinella P. Cannavò   +3 more
doaj   +1 more source

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract We report a 17‐year‐old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder.
Jorge L. Rodriguez‐Gil, Peter L. Nagy, Uta Francke   +2 more
wiley   +1 more source

Refractory relapsing polychondritis: challenges and solutions

Open Access Rheumatology: Research and Reviews, 2018
Fernando Kemta Lekpa,1,2 Xavier Chevalier3 1Faculty of Health Sciences, University of Buea, Buea, 2Reheumatology Unit, Internal Medicine Department, General Hospital, Douala, Cameroon; 3Department of Rheumatology, Henri Mondor Hospital, University Paris ...
Kemta Lekpa F, Chevalier X
doaj  

A Phase 1, Single‐Dose Study to Evaluate the Pharmacokinetics and Safety of Bepirovirsen in Adults with Hepatic Impairment and Healthy Participants (B‐Assured)

Clinical Pharmacology in Drug Development, Volume 13, Issue 10, Page 1088-1097, October 2024.
Abstract Bepirovirsen is a developmental antisense oligonucleotide (ASO) for treatment of chronic hepatitis B virus infection. No pharmacokinetic (PK) studies comparing participants with hepatic impairment (HI) and healthy participants (HPs) have been conducted with ASOs.
Nadia Noormohamed, Tamara Lukic, Thomas C. Marbury, Eric J. Lawitz, Holly Prescott, Mindy Magee, Ahmed Nader, Kelong Han   +7 more
wiley   +1 more source

Síndrome de Erasmus Associada à Policondrite Recidivante: Relato de Caso / Erasmus’ Syndrome in Association with Relapsing Polychondritis: a Case Report

Revista Ciências em Saúde, 2013
Introdução: A silicoesclerodermia foi descrita pela primeira vez por Erasmus, e é consequência de uma resposta inflamatória desencadeada pela sílica, envolvendo a liberação de mediadores que causam alteração na imunidade celular e humoral, levando a ...
Jacqueline Foelkel Pignatari, Marcela Maria da Silva, Maria Zilda Cardoso, Clarissa Santos de Carvalho Ribeiro   +3 more
doaj   +1 more source

A case of VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome presenting as progressive multisystem involvement with parenchymal infiltrates following infection with Epstein Barr virus

Respirology Case Reports, Volume 12, Issue 10, October 2024.
VEXAS syndrome is a multisystem disease manifesting as progressive inflammatory sequelae, however the underlying aetiology remains unclear. This case report describes a patient diagnosed with VEXAS who developed multi‐organ inflammation, including rapidly progressive pulmonary infiltrates following infection with Epstein Barr Virus.
Jelena Solujic, Phan Nguyen, Peter Bardy, Yao Ly, Emily Lawton   +4 more
wiley   +1 more source

VEXAS syndrome: Focus on dermatological manifestations and their histopathological correlate

JEADV Clinical Practice, Volume 3, Issue 4, Page 1035-1048, September 2024.
Abstract Background VEXAS ‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’ is a rare autoinflammatory syndrome, first described in October 2020 by Beck et al. It is caused by somatic mutations in the UBA1 gene, coding for the E1 enzyme, responsible for ubiquitination.
Sofie Engelen, Anne‐Catherine Dens, Frederik Staels, Rik Schrijvers, Daniel Blockmans, Steven Vanderschueren, Albrecht Betrains, F. J. Sherida H. Woei‐A‐Jin, Arno Vanstapel, Franscesca Bosisio, Petra De Haes   +10 more
wiley   +1 more source

Relapsing Polychondritis pada Anak

Sari Pediatri, 2016
Relapsing polychondritis (RP) adalah penyakit autoimun yang jarang terjadi. Penyakit RP ditandai dengan inflamasi jaringan kartilago berulang dan berpotensi untuk terjadi kerusakan progresif pada jaringan tersebut.
Budi Setiabudiawan, Sinta Boesoerie, Reni Ghrahani DM, Gartika Sapartini, Diana Rosifah   +4 more
doaj   +1 more source

Posterior Scleritis and Myelodisplasia in Relapsing Polychondritis- Case Report and Literature Review

Vision Pan-America, 2016
Relapsing Polychondritis (RP) is a rare, recurrent and autoimmune multisytem disorder affecting cartilaginous structures, such as: auricles, joints, nasal septum, larynx and tracheobronchial tree.
nadine sousa marques, Ana Filipa Miranda, Sandra Barros, Sónia Parreira, Nelvia Mejias, Belmira Belran, Nuno Campos, João Cardoso   +7 more
doaj   +1 more source