Review
Medicine, General & Internal
Weizhen Xiang, Rongrong Dong, Meiqi Li, Baocheng Liu, Zhenzhen Ma, Qingrui Yang
Summary: Connective tissue disease (CTD) patients with positive anti-U1 ribonucleoprotein (RNP) antibodies are at high risk for pulmonary arterial hypertension (PAH), and these antibodies are also associated with decreased mortality in CTD-PAH patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Awais Ahmad, Andre Brylid, Charlotte Dahle, Muna Saleh, Orjan Dahlstrom, Helena Enocsson, Christopher Sjowall
Summary: The detection of antinuclear antibodies is crucial for diagnosing and predicting the outcome of systemic lupus erythematosus (SLE), primary Sjogren's syndrome (pSS), and mixed connective tissue disease (MCTD). Anti-U1-RNP and anti-RNP70 antibodies were examined in patients with SLE, pSS, and MCTD. The presence of anti-U1-RNP antibodies was associated with a clinical phenotype resembling MCTD and less organ damage in SLE patients. However, subtyping anti-RNP70 in anti-U1-RNP-positive sera did not provide significant clinical value.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Immunology
Margherita Giannini, Benjamin Ellezam, Valerie Leclair, Frederic Lefebvre, Yves Troyanov, Marie Hudson, Jean-Luc Senecal, Bernard Geny, Oceane Landon-Cardinal, Alain Meyer
Summary: Systemic sclerosis and autoimmune myositis are associated with decreased quality of life and increased mortality. Recent findings have identified a new disease subset, called scleromyositis, within both diseases, which has important implications for patient management and understanding of the disease pathophysiology.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Ryo Yamamoto, Ryan Chung, Juan Manuel Vazquez, Huanjie Sheng, Philippa L. Steinberg, Nilah M. Ioannidis, Peter H. Sudmant
Summary: Age is a primary risk factor for many common human diseases. A study on gene expression patterns in different tissues found that genetics and aging have different relative contributions. The expression levels in highly proliferative tissues and other tissues also vary, which has significant implications for disease occurrence and development.
NATURE COMMUNICATIONS
(2022)
Article
Rheumatology
Edoardo Conticini, Paolo Falsetti, Suhel Gabriele Al Khayyat, Caterina Baldi, Francesca Bellisai, Marco Bardelli, Jurgen Sota, Luca Cantarini, Bruno Frediani
Summary: The study found that edema and power Doppler signal are closely related to early active myositis, while muscle atrophy is more related to the patient's age and the severity of the disease.
Review
Biochemistry & Molecular Biology
Chia-Chun Tseng, Ya-Wen Sung, Kuan-Yu Chen, Pin-Yi Wang, Chang-Yi Yen, Wan-Yu Sung, Cheng-Chin Wu, Tsan-Teng Ou, Wen-Chan Tsai, Wei-Ting Liao, Chung-Jen Chen, Su-Chen Lee, Shun-Jen Chang, Jeng-Hsien Yen
Summary: Connective tissue disease-associated interstitial lung disease (CTD-ILD) is a severe manifestation of CTD that leads to significant morbidity and mortality. The disease can occur in diverse CTDs and is characterized by various histologic patterns. Abnormal immune system responses, especially in macrophages, play an important role in its pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Kevin Chevalier, Benjamin Thoreau, Marc Michel, Bertrand Godeau, Christian Agard, Thomas Papo, Karim Sacre, Raphaele Seror, Xavier Mariette, Patrice Cacoub, Ygal Benhamou, Herve Levesque, Cecile Goujard, Olivier Lambotte, Bernard Bonnotte, Maxime Samson, Felix Ackermann, Jean Schmidt, Pierre Duhaut, Jean-Emmanuel Kahn, Thomas Hanslik, Nathalie Costedoat-Chalumeau, Benjamin Terrier, Alexis Regent, Bertrand Dunogue, Pascal Cohen, Veronique Le Guern, Eric Hachulla, Benjamin Chaigne, Luc Mouthon
Summary: This study aims to better characterize the features and outcomes of a large population of patients with mixed connective tissue disease (MCTD). An observational retrospective multicenter cohort study was conducted in France, including patients who fulfilled at least one MCTD diagnostic criterion and none of the criteria for other differentiated CTD.
JOURNAL OF INTERNAL MEDICINE
(2023)
Review
Immunology
Maurizio Cutolo, Stefano Soldano, Alberto Sulli, Vanessa Smith, Emanuele Gotelli
Summary: Vitamin D, a steroid hormone, has complex influences on the immune system and may affect various clinical conditions. Its serum concentrations fluctuate seasonally due to UV-B exposure, and low levels of 25OHD are implicated in the pathogenesis and clinical manifestations of diseases like rheumatoid arthritis and systemic sclerosis.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Medicine, General & Internal
Matthew Wells, Sughra Alawi, Kyaing Yi Mon Thin, Harsha Gunawardena, Adrian R. Brown, Anthony Edey, John D. Pauling, Shaney L. Barratt, Huzaifa I. Adamali
Summary: Antisynthetase syndrome is a subtype of idiopathic inflammatory myopathy that is strongly associated with interstitial lung disease. Diagnosis is made by detecting specific antibodies and relevant clinical and radiologic features. A multidisciplinary team, including rheumatologists, respiratory physicians, and radiologists, is needed for accurate diagnosis.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Lilian Rauch, Ruediger Hein, Tilo Biedermann, Kilian Eyerich, Felix Lauffer
Summary: Bisphosphonates show beneficial effects in a subgroup of patients with calcinosis cutis. Most patients have positive subjective evaluations, with improvement seen in approximately half of the cases. A careful risk-benefit evaluation is necessary before treatment initiation due to potential severe side effects.
Article
Chemistry, Medicinal
Mattia Bellan, Cristina Piccinino, Stelvio Tonello, Rosalba Minisini, Ailia Giubertoni, Daniele Sola, Roberta Pedrazzoli, Ileana Gagliardi, Erika Zecca, Elisa Calzaducca, Federica Mazzoleni, Roberto Piffero, Giuseppe Patti, Mario Pirisi, Pier Paolo Sainaghi
Summary: This study aimed to evaluate the role of plasma osteopontin (OPN) as a candidate biomarker of PAH in CTD patients, and found that OPN was significantly associated with PAH among CTD patients, suggesting it may have potential as a non-invasive disease biomarker for PAH.
Review
Medicine, General & Internal
Madelon C. Vonk, Els Vandecasteele, Arie P. van Dijk
Summary: Pulmonary arterial hypertension is a lethal complication of different connective tissue diseases but treatment advancements have mainly benefited patients with idiopathic pulmonary arterial hypertension, while those with connective tissue disease-associated pulmonary arterial hypertension still face challenges. Current research focuses on improving early diagnostic, screening, and treatment options.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Rheumatology
Ines Elhani, Kathy Khoy, Delphine Mariotte, Elisabeth Comby, Christian Marcelli, Brigitte Le Mauff, Alexandra Audemard-Verger, Jonathan Boutemy, Gwenola Maigne, Nicolas Martin Silva, Achille Aouba, Hubert de Boysson
Summary: Anti-U1-RNP antibodies are crucial for the diagnosis of mixed connective tissue disease (MCTD) and systemic lupus erythematosus (SLE), but distinguishing between the two remains challenging. Patients with scleroderma features are more likely to be diagnosed with MCTD, while the absence of these manifestations may suggest another definite connective tissue disease, especially SLE.
RHEUMATOLOGY INTERNATIONAL
(2022)
Review
Clinical Neurology
Muhammed Enes Gunduz, Ramanathan Kadirvel, David F. Kallmes, Alessandro Pezzini, Zafer Keser
Summary: The current literature supports the hypothesis that an underlying, genetically determined connective tissue disorder may lead to arterial wall weakness and increase the risk of spontaneous cervical artery dissection (sCeAD). Further studies with larger sample sizes and robust methodology are needed to better understand the role of connective tissue in the pathogenesis of sCeAD.
FRONTIERS IN NEUROLOGY
(2023)
Article
Immunology
A. Paradowska-Gorycka, A. Wajda, B. Stypinska, E. Walczuk, E. Rzeszotarska, M. Walczyk, E. Haladyj, K. Romanowska-Prochnicka, A. Felis-Giemza, A. Lewandowska, M. Olesinska
Summary: Our investigation found that IFN-gamma, TLR-3, and TLR-8 expression were present in SLE patients, while expression levels were relatively low in MCTD and SSc patients. Strong correlations were observed between TLR-7 and IFN-alpha expression, as well as between IFN-beta and IFN-alpha expression in SLE and MCTD patients. The endosomal TLR-IFN pathway appears to be more significant in SLE compared to MCTD or SSc, suggesting IFN-alpha and IFN-beta may serve as potential biomarkers for SLE.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2021)
