Results 41 to 50 of about 5,018,411 (238)

In silico validation of the autoinflammatory disease damage index [PDF]

, 2018
INTRODUCTION: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed.
Ravelli, A, Uziel, Y., Lachmann, HJ, Ombrello, A.K., Simon, A, Russo, R, Annink, KV, Brogan, PA, Ozen, S., Cattalini, M, Durrant, KL, Hachulla, E., Herlin, T., Cochino, A-V, Hoffman, HM, Delft, A.L.J. van, de Jesus, AA, Kone-Paut, I, Al-Mayouf, S.M., Dolezalova, P., Dedeoglu, F, Trachana, M, Papadopoulou-Alataki, E, Frenkel, J., Dolezalova, P, Haar, N.M.R. van der, Frenkel, J, Hentgen, V, Hofer, M, Jansson, AF, van Delft, ALJ, Benedetti, F. De, Hachulla, E, Rigante D, Quartier, P, Nikishina, I., Kuemmerle-Deschner, J.B., Ter Haar, NM, Stel, H. van, Cochino, A.V., Simon, A., Schulert, G., Kallinich, T, Gallizzi, R., van Stel, H, Amaryan, G, Hofer, M., Gattorno, M, Kone-Paut, I., Ravelli, A., Benseler, S., Özen, S, Martini, A, Kuemmerle-Deschner, JB, Laxer, RM, de Benedetti, F, Kozlova, A, Demirkaya, E, Kozlova, A., Hoffman, H.M., Lachmann, H.J., Insalaco, A, Anton, J., Cantarini, L., Goldbach-Mansky, R., Papadopoulou-Alataki, E., Fabio, G., Hentgen, V., Benseler, S, Amaryan, G., Herlin, T, Rigante, D., Gattorno, M., Quartier, P., Barron, K.S., Gallizzi, R, Annink, K.V., Jansson, A.F., Laxer, R.M., Nielsen, S, Martini, A., Goldbach-Mansky, R, Nielsen, S., Insalaco, A., Kallinich, T., Nikishina, I, Cantarini, L, Brogan, P.A., Trachana, M., Al-Mayouf, SM, Fabio, G, Schulert, G, Durrant, K.L., Anton, J, Ombrello, AK, Demirkaya, E., Barron, KS, Dedeoglu, F., Uziel, Y, Rigante, D, Russo, R., Jesus, A.A. De, Cattalini, M.   +102 more
core   +5 more sources

Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

Insights into Imaging, 2020
Purpose 1. To review the contemporary literature and present a list of the imaging findings for patients with autoinflammatory diseases from our hospital. All these patients are found to have a genetic mutation that is responsible for their disease.
Alaa N. Alsharief, Ronald M. Laxer, Qiuyan Wang, Jennifer Stimec, Carina Man, Paul Babyn, Andrea S. Doria   +6 more
doaj   +1 more source

Amyopathic dermatomyositis may be on the spectrum of autoinflammatory disease: A clinical review. [PDF]

Rheumatol Immunol Res
Systemic autoinflammatory diseases (SAIDs) are distinct from autoimmune diseases. The former primarily results from abnormal innate immune response and genetic testing is crucial for disease diagnosis.
Sharmeen S, Christopher-Stine L, Salvemini JN, Gorevic P, Clark R, Yao Q.   +5 more
europepmc   +2 more sources

Autoinflammatory syndromes and coeliac disease: One observation and two hypotheses

, 2007
Autoinflammatory syndromes and coeliac disease: One observation and two ...
Tommasini A, Lepore L., Pontillo A., Not T., Marcuzzi A.   +4 more
core   +1 more source

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis

RMD Open, 2022
Objectives Besides adaptive immunity genes, genetic risk factors for psoriatic arthritis (PsA) include innate immunity loci, which suggests an autoinflammatory disease mechanism, at least in a subset of patients.
Torsten Witte, Georgios Sogkas, Natalia Dubrowinskaja, Manfred Anim, Faranaz Atschekzei, Thea Thiele   +5 more
doaj   +1 more source

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Pediatric Rheumatology Online Journal, 2017
Background Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part
Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan   +6 more
doaj   +1 more source

Pustular Eruptions in Children as Manifestations of Autoinflammatory Diseases

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2019
Nowadays, in clinical practice, when attending a child with a pustular eruption and systemic inflammation, it is mandatory to think of an autoinflammatory disease, once infectious causes have been ruled out.
Felicidade Santiago, Antonio Torrelo
doaj   +1 more source

Autoinflammatory Features in Gouty Arthritis [PDF]

, 2021
In the panorama of inflammatory arthritis, gout is the most common and studied disease. It is known that hyperuricemia and monosodium urate (MSU) crystal-induced inflammation provoke crystal deposits in joints.
Sara Bindoli, Bindoli, Sara, Paolo Sfriso, Doria, Andrea, Oliviero, Francesca, Sfriso, Paolo, Francesca Oliviero, Andrea Doria, Galozzi, Paola, Paola Galozzi   +9 more
core   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Idiopathic recurrent pericarditis (IRP) is an orphan disease that carries significant morbidity, partly driven by corticosteroid dependence.
Claire J. Peet, Dorota Rowczenio, Ebun Omoyinmi, Charalampia Papadopoulou, Bella Ruth R. Mapalo, Michael R. Wood, Francesca Capon, Helen J. Lachmann   +7 more
doaj   +1 more source