Genes, Vol. 15, Pages 513: Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis
In this report, the authors describe a patient presenting with a short stature, neurodevelopmental delay, and dysmorphisms, who had an episode of polyarticular arthritis at the age of three years and eight months, resulting in severe joint limitations, and was later diagnosed with 22q11.2 deletion syndrome. Investigation through Whole Genome Sequencing revealed that he had no pathogenic or likely-pathogenic variants in both alleles of the MIF gene or in genes associated with monogenic arthritis (LACC1, LPIN2, MAFB, NFIL3, NOD2, PRG4, PRF1, STX11, TNFAIP3, TRHR, UNC13DI). However, the patient presented 41 risk polymorphisms...
Source: Genes - April 19, 2024 Category: Genetics & Stem Cells Authors: Ruy Pires de Oliveira-Sobrinho Simone Appenzeller Ianne Pessoa Holanda J úlia Lôndero Heleno Josep Jorente on behalf of the Rare Genomes Project Consortium on behalf of the Rare Genomes Project Consortium T ársis Paiva Vieira Carlos Eduardo Steiner Tags: Case Report Source Type: research
FDA Approves New Biosimilars to Denosumab with an Interchangeable Designation
The FDA has approved the first interchangeable biosimilars for denosumab. (Source: The Rheumatologist)
Source: The Rheumatologist - April 18, 2024 Category: Rheumatology Authors: Michele B. Kaufman, PharmD, BCGP Tags: Biologics/DMARDs Conditions Drug Updates Osteoarthritis and Bone Disorders denosumab denosumab-bbdz Jubbonti Prolia Wyost Xgeva Source Type: research
Clinically Significant Pain Relief with a Non-Opioid Drug
In a phase 3 trial, treatment with VX-548 led to statistically and clinically significant improvements in pain compared with placebo. (Source: The Rheumatologist)
Source: The Rheumatologist - April 18, 2024 Category: Rheumatology Authors: Michele B. Kaufman, PharmD, BCGP Tags: Analgesics Drug Updates Pain Syndromes VX-548 Source Type: research
Analysis of risk factors associated with diffuse alveolar haemorrhage in patients with ANCA-associated vasculitis and construction of a risk prediction model using line graph
CONCLUSIONS: The new nomogram, which included age, Hb, ESR, PLT and haematuria as variables, had the potential to predict the risk of AAV patients complicated with DAH.PMID:38634373 | DOI:10.55563/clinexprheumatol/7m21vr (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - April 18, 2024 Category: Rheumatology Authors: Xuanwei Li Congyuan Ma Jiamei Xu Meng Zhang Qin Xiang Yue Li Wenlai Li Ping Zhu Source Type: research
Endothelial mesenchymal transition promotes pannus formation in ankylosing spondylitis by activation of TGF-β/SMAD signalling pathway
CONCLUSIONS: Our findings show that EndMT is involved in the promotion of pannus formation by TGF-β/SMAD signalling pathway activation in AS.PMID:38634365 | DOI:10.55563/clinexprheumatol/9u1vzp (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - April 18, 2024 Category: Rheumatology Authors: Shaojie Li Zhiduo Hou Yao Gong Jianhua Peng Hongjin Liang Danmin Wang Ling Lin Source Type: research
Lower total cholesterol and triglyceride levels in ankylosing spondylitis than non-inflammatory rheumatic disease controls in a 1978-98 study: a potential effect of increased physical energetics in manual occupations in the pre-2000 chronologic era
CONCLUSIONS: In the 1978-98 survey, AS had significantly lower mean serum cholesterol and triglyceride levels than NIRD control patients. Associated manual labour occupations may have significantly contributed to results, possibly related to increased energy expenditures from physical activity in the pre-2000 era.PMID:38634375 | DOI:10.55563/clinexprheumatol/u41mn1 (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - April 18, 2024 Category: Rheumatology Authors: Alfonse T Masi Ponnaiah C Mohan Tsr Murugan Chadrick R Evans Michael J Ryan Megan L Brezka Vaughn Hanna Gerald R Cooper Jean C Aldag Source Type: research
Uncovering risk factors for adverse events and infections in rheumatoid arthritis and rheumatoid arthritis with interstitial lung disease under treatment with biologics or targeted synthetic DMARDs: insights from the KOBIO Registry
CONCLUSIONS: Patients with RA-ILD exhibited a higher rate of b/tsDMARDs withdrawal due to overall AEs and infections than those with RA without ILD. In the RA-ILD group, older age was identified as a risk factor for overall AEs, whereas a current smoking status was identified as a risk factor for infections.PMID:38634363 | DOI:10.55563/clinexprheumatol/6h1euo (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - April 18, 2024 Category: Rheumatology Authors: Ji-Won Kim Kichul Shin Juyang Jung Chang-Hee Suh Jinhyun Kim Sun-Kyung Lee Hyoun-Ah Kim Source Type: research
Effectiveness and safety of filgotinib in rheumatoid arthritis patients: data from the GISEA registry
CONCLUSIONS: In an Italian real-life setting, filgotinib is confirmed to be safe and with a good effectiveness profile both in monotherapy and without glucocorticoids.PMID:38634362 | DOI:10.55563/clinexprheumatol/b40rv4 (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - April 18, 2024 Category: Rheumatology Authors: Marco Fornaro Roberto Caporali Martina Biggioggero Serena Bugatti Ludovico De Stefano Alberto Cauli Mattia Congia Fabrizio Conti Maria Sole Chimenti Chiara Bazzani Simone Perniola Fabiola Atzeni Giovanni Lapadula Gianfranco Ferraccioli Florenzo Iannone fr Source Type: research
Efficacy of risankizumab across subgroups in patients with active psoriatic arthritis: a post hoc integrated analysis of the phase 3 KEEPsAKE 1 and KEEPsAKE 2 randomized controlled trials
J Dermatolog Treat. 2024 Dec;35(1):2342383. doi: 10.1080/09546634.2024.2342383. Epub 2024 Apr 18.ABSTRACTIn the KEEPsAKE 1 (NCT03675308) and KEEPsAKE 2 (NCT03671148) phase 3 trials, risankizumab demonstrated greater efficacy compared with placebo in patients with active psoriatic arthritis (PsA). This post hoc integrated analysis evaluated achieving the following efficacy outcomes at weeks 24 and 52 by baseline demographics and clinical characteristics: ≥20%/50%/70% improvement in American College of Rheumatology response criteria (ACR20/50/70), ≥90% improvement in Psoriasis Area and Severity Index, minimal disease act...
Source: Journal of Dermatological Treatment - April 18, 2024 Category: Dermatology Authors: Joseph F Merola April Armstrong Saakshi Khattri So Yeon Paek Byron Padilla Cuiyong Yue Huzefa Photowala Blair Kaplan Lars Erik Kristensen Source Type: research
Real-world outcomes and drug survival of brodalumab: results from the German Psoriasis Registry PsoBest
J Dermatolog Treat. 2024 Dec;35(1):2340107. doi: 10.1080/09546634.2024.2340107. Epub 2024 Apr 18.ABSTRACTBrodalumab, a human monoclonal antibody that targets interleukin-17 receptor A (IL-17RA), is approved in the US and EU for treatment of adults with moderate-to-severe plaque psoriasis. Although brodalumab has demonstrated efficacy and safety vs placebo in clinical trials of patients with psoriasis and psoriatic arthritis (PsA), real-world evidence is needed to evaluate long-term effectiveness and safety of brodalumab in routine care. This interim analysis of the German Psoriasis Registry PsoBest examined patient profile...
Source: Journal of Dermatological Treatment - April 18, 2024 Category: Dermatology Authors: Lisa Schaeffer Nesrine Ben-Anaya Christina Sorbe Stephan Jeff Rustenbach Ulrich Mrowietz Matthias Augustin Source Type: research
The role of Epstein-Barr virus in autoimmune and autoinflammatory diseases
Crit Rev Microbiol. 2024 Apr 18:1-21. doi: 10.1080/1040841X.2024.2344114. Online ahead of print.ABSTRACTEpstein-Barr Virus (EBV), a dsDNA herpesvirus, is believed to play a significant role in exacerbating and potentially triggering autoimmune and autoinflammatory maladies. Around 90% of the world is infected with the virus, which establishes latency within lymphocytes. EBV is also known to cause infectious mononucleosis, a self-limited flu-like illness, in adolescents. EBV is often reactivated and it employs several mechanisms of evading the host immune system. It has also been implicated in inducing host immune dysfuncti...
Source: Critical Reviews in Microbiology - April 18, 2024 Category: Microbiology Authors: Abdul Hamid Borghol Elio R Bitar Aya Hanna Georges Naim Elias A Rahal Source Type: research
Serum long non-coding Ribonucleic Acid H19 serves as a biomarker for systemic lupus erythematosus and participates in the disease progression
CONCLUSIONS: The expression of H19 is upregulated in patients with SLE and plays a role in cell function and inflammation by targeting miR-19b in PBMCs, which may be one of the pathological mechanisms of SLE.PMID:38634475 | DOI:10.1177/09612033241243175 (Source: Lupus)
Source: Lupus - April 18, 2024 Category: Rheumatology Authors: Hongyu Yang Shuping Wang Fei Wang Xuemei Bai Juan Ren Source Type: research
Fever in rheumatological diseases
This article provides an overview of the physiology of the development of fever, describes the relevance of fever in individual rheumatological diseases and proposes a workflow for the clinical clarification of rheumatological patients who present with fever.PMID:38634905 | DOI:10.1007/s00393-024-01505-y (Source: Zeitschrift fur Rheumatologie)
Source: Zeitschrift fur Rheumatologie - April 18, 2024 Category: Rheumatology Authors: Jasper F Nies Martin Krusche Source Type: research
Bessel's disease-the first report of an IgG4-related disorder
Z Rheumatol. 2024 Apr 18. doi: 10.1007/s00393-024-01502-1. Online ahead of print.ABSTRACTMany aspects of IgG4-related diseases were initially described during the late 19th and early 20th century. A variety of clinical presentations caused by this common pathology have been named after the researchers who first described the disorders, such as Mikulicz, Küttner, Riedel or Ormond. However, the initial description of retroperitoneal fibrosis dates back to even 50 years earlier, when in 1846, the Prussian private practitioner Raphael Jakob Kosch described a hitherto unknown constellation of symptoms and pathological findings...
Source: Zeitschrift fur Rheumatologie - April 18, 2024 Category: Rheumatology Authors: B Manger G Schett Source Type: research
Gastrointestinal bleeding due to disseminated histoplasmosis in a patient under anti-TNF treatment
Rev Esp Enferm Dig. 2024 Apr 18. doi: 10.17235/reed.2024.10432/2024. Online ahead of print.ABSTRACTA 62-year-old woman, originally from Peru, with rheumatoid arthritis under treatment with anti-tumor necrosis factor (anti-TNF) therapy, was admitted due to constitutional syndrome and suspicion of neoplasia. Computed tomography (CT) scan revealed involvement of three segments of the colon, ascites, and likely peritoneal implants. Ascitic fluid analysis showed elevated adenosine deaminase (ADA) levels and lymphocytosis. The patient presented with hematemesis and hematochezia with hemodynamic instability. Upper gastrointestina...
Source: Revista Espanola de Enfermedades Digestivas - April 18, 2024 Category: Gastroenterology Authors: Irene Gonz ález Díaz Cristina Su árez Ferrer Clara Amiama Roig Carmen Amor Costa Source Type: research
