International Journal of Rheumatic Diseases最新文献

{"title":"Case Report: Atlantoaxial Rotatory Subluxation as a Rare Manifestation of Juvenile Enthesitis Related Arthritis","authors":"Patel Pooja, Patel Divy, Meghnathi Bhowmik","doi":"10.1111/1756-185x.70422","DOIUrl":"10.1111/1756-185x.70422","url":null,"abstract":"","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the Relationship Between Alcohol Consumption and Gout: A Narrative Review","authors":"María Cristina Martínez-Ávila,&nbsp;Paul Alejandro Mendez-Patarroyo,&nbsp;Alieth Lucía Acosta Cardozo,&nbsp;Gerardo Quintana-López,&nbsp;Wilson Bautista-Molano","doi":"10.1111/1756-185x.70421","DOIUrl":"10.1111/1756-185x.70421","url":null,"abstract":"<div>\u0000 \u0000 <p>Gout, a chronic inflammatory condition, is intricately linked to lifestyle factors such as diet and alcohol consumption. Alcohol significantly influences gout development and flares through mechanisms including hyperuricemia, oxidative stress, and purine metabolism. The impact of alcohol varies by type and quantity, with beer and spirits posing a higher risk due to their purine and ethanol content, while moderate wine consumption may confer potential anti-inflammatory benefits. Recent advances underscore the multifactorial nature of gout, revealing how host genetics and epigenetic modifications modulate alcohol's effects. Variants in genes regulating urate transport (SLC2A9, ABCG2) and alcohol metabolism (ADH1B, ALDH2) influence individual susceptibility, highlighting the need for personalized management strategies. This narrative review synthesizes evidence from genetics, lifestyle, and public health perspectives, emphasizing the importance of moderation, pharmacogenomics, and tailored interventions in improving gout outcomes.</p>\u0000 </div>","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Juvenile-Onset Diffuse Systemic Sclerosis Later Developing Systemic Lupus Features: A Challenging Overlap Syndrome","authors":"Lekshmi Minikumari Rahulan,&nbsp;Manikandan Chidambaram,&nbsp;Vikas Agarwal","doi":"10.1111/1756-185x.70412","DOIUrl":"10.1111/1756-185x.70412","url":null,"abstract":"","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Salazosulfapyridine and Pneumocystis Jirovecii Pneumonia in Rheumatoid Arthritis: Promising Signal or Premature Conclusion?","authors":"Selin Cilli Hayıroğlu","doi":"10.1111/1756-185x.70414","DOIUrl":"10.1111/1756-185x.70414","url":null,"abstract":"","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Associations Between Ankylosing Spondylitis and Chronic Kidney Disease: A Two-Sample Mendelian Randomization Analysis","authors":"Qian Fang,&nbsp;Weici Feng,&nbsp;Jiamin Zeng,&nbsp;Long Huang,&nbsp;Yanjun Wang,&nbsp;Zhiming Wu","doi":"10.1111/1756-185x.70400","DOIUrl":"10.1111/1756-185x.70400","url":null,"abstract":"","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Moyamoya Syndrome or Moyamoya Disease? Primary CNS Vasculitis in a Child? The Importance of Nomenclature","authors":"Hiromi Onuma-Zamayoa,&nbsp;Patricia Herrera-Mora,&nbsp;Ernesto Onuma-Takane,&nbsp;Marco Yamazaki-Nakashimada","doi":"10.1111/1756-185x.70410","DOIUrl":"https://doi.org/10.1111/1756-185x.70410","url":null,"abstract":"","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145062732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Scoping Review of Respiratory Dysfunction in Inclusion Body Myositis","authors":"Kevin Renz Ambrocio,&nbsp;Bianca R. Ragusa,&nbsp;Rohit Aggarwal,&nbsp;David Lacomis,&nbsp;Gail Kouame,&nbsp;Kendrea L. Garand,&nbsp;Focht","doi":"10.1111/1756-185x.70409","DOIUrl":"https://doi.org/10.1111/1756-185x.70409","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Inclusion body myositis (IBM) can result in deadly respiratory consequences. Yet, the mechanism driving this issue remains equivocal. We mapped the literature to identify physiological respiratory characteristics in IBM and the types of respiratory assessments used.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a scoping review using seven databases and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our search yielded 381 studies, of which 17 studies were reviewed. Case studies/series predominated (53%). Studies mainly used pulmonary function testing (76%), suggesting restrictive respiratory abnormalities. However, insufficient reporting of race/ethnicity (82%), disease duration (59%) and severity (77%), and assessment operations (82%) and interpretation (59%) protocols were problematic. Half of the studies relied on standalone assessments, and 75% of studies that reported interpretation protocols applied interpretation cutoff thresholds.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Low-level evidence guides our understanding of IBM-induced respiratory dysfunction. Future studies should ensure detailed and transparent reporting and follow current best practices for respiratory assessment to define IBM-induced respiratory dysfunction.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144998753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Flow Cytometric Expression of Nucleotide-Binding Oligomerization Domain Containing 2 (NOD2) Protein: An Effective Screening Tool for Blau Syndrome","authors":"Rajni Kumrah,&nbsp;Jyoti Sharma,&nbsp;Kanika Arora,&nbsp;Amit Rawat,&nbsp;Vaishali Gupta,&nbsp;Surjit Singh,&nbsp;Deepti Suri","doi":"10.1111/1756-185x.70397","DOIUrl":"https://doi.org/10.1111/1756-185x.70397","url":null,"abstract":"&lt;p&gt;Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disorder presenting in early childhood and characterized by a triad of granulomatous arthritis, dermatitis, and uveitis. It is caused by variants in the nucleotide oligomerization domain 2 (&lt;i&gt;NOD2&lt;/i&gt;) gene that encode for the NOD2 protein, having two caspase recruitment (CARD) domains, a centrally located NACHT domain and six leucine-rich repeats (LRRs) [&lt;span&gt;1&lt;/span&gt;]. This cytosolic pattern recognition receptor protein is expressed in various immune cells and recognizes muramyl dipeptide (MDP) derived from intracellular bacterial lipopolysaccharides and triggers an immune response by activating the NFKB pathway. Mutations in the &lt;i&gt;NOD2&lt;/i&gt; gene decrease the capability of spontaneous oligomerization of the protein. Over the years, the number of NOD2 mutations associated with BS has expanded, and most variants are found at or near the nucleotide-binding NOD/NACHT domain or extending into the C-terminal region of the LRR structure, with the R334W variant being the most common. Frequent variants of uncertain significance, incomplete penetrance, as well as recognition of asymptomatic carriers have made genotype–phenotype correlation difficult to understand. Clinically, patients with BS are often diagnosed late, and as a result, patients develop significant ocular morbidity and/or end-organ damage. So, early identification is crucial for timely intervention and management. Genetic testing is expensive and time-consuming, so a need was felt to have a flow cytometry-based rapid screening test to identify the subset of patients who would benefit from further evaluation by expensive and time-consuming genetic tests. Flow cytometry enables rapid and cost-effective assessment of NOD2 protein levels in different immune cell subsets, with same-day turnaround time, making it particularly useful in acute or resource-constrained clinical settings.&lt;/p&gt;&lt;p&gt;Patients with clinical suspicion of BS were screened for &lt;i&gt;NOD2&lt;/i&gt; variants and enrolled in the study after informed written consent. The patients were registered at the Pediatric Immune Deficiency Clinic and Pediatric Rheumatology Clinic, Advanced Pediatric Centre, PGIMER, Chandigarh, India. The clinical profile of 11 BS patients (10 children, 1 adult) from our cohort was published (PMID: 36189202) highlighting that 54.5% of patients had a classic triad, while the frequency of arthritis, dermatitis, and uveitis was 100%, 81.8%, and 72.7%, respectively. Among these 11 patients, flow cytometry and gene expression studies could be carried out on only 9 patients, as 1 patient died and one was lost to follow up. Whole blood (5 mL) was obtained from patients with BS and healthy controls (HC). NOD2 protein expression was assessed in BS (&lt;i&gt;n&lt;/i&gt; = 9) and HC (&lt;i&gt;n&lt;/i&gt; = 7) by intracellular staining of different immune cells by flow cytometry. Isolation of peripheral blood mononuclear cells (PBMCs) was carried out from patients with BS and HC usin","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/1756-185x.70397","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144998754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D Status in Paraguayan Children With Autoimmune Diseases","authors":"Zoilo Morel,&nbsp;Lourdes Paredes,&nbsp;Irene Benítez,&nbsp;Hassel Jimmy Jiménez,&nbsp;María Leticia Ramírez Pastore","doi":"10.1111/1756-185x.70408","DOIUrl":"https://doi.org/10.1111/1756-185x.70408","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Vitamin D plays a crucial role in modulating the immune system. Numerous studies have elucidated the association between low serum levels of vitamin D and autoimmune diseases. Vitamin D deficiency has been implicated in systemic lupus erythematosus, rheumatoid arthritis (RA), Hashimoto's thyroiditis, juvenile dermatomyositis, inflammatory bowel disease, among others.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aims to assess the vitamin D levels in a cohort of pediatric patients diagnosed with autoimmune diseases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methodology</h3>\u0000 \u0000 <p>This descriptive study, complemented with an analytical cross-sectional component, enrolled individuals under the age of 18 diagnosed with autoimmune disorders who underwent vitamin D assessment. The study spanned from January 2016 to December 2020 and was conducted across three specialized clinics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among the 81 pediatric patients with autoimmune pathologies enrolled during the study period, 60 (74.04%) were female. The mean age of the participants at the time of the study was 9 years, ranging from 2 to 17 years old. Of the total cohort, 78 individuals (96.3%) were Latin-American. The most prevalent diagnosis was Juvenile Idiopathic Arthritis (JIA) in 53 patients (65.43%), followed by autoimmune thyroiditis in 9 patients (11.11%), systemic lupus erythematosus (SLE) in 8 patients (9.88%), and other conditions in 11 patients (11.11%), including dermatomyositis and celiac disease. Regarding vitamin D levels, the mean concentration was 24.69 ng/mL. Specifically, 19 patients (23.46%) had sufficient levels (≥ 30 ng/mL), 41 patients (50.62%) had insufficiency, 20 patients (24.69%) had deficiency, and 1 patient (1.23%) had severe deficiency. No statistically significant differences were observed between vitamin D levels and sex (<i>p</i> = 0.82), age (<i>p</i> = 0.88), disease remission (<i>p</i> = 0.97), antinuclear antibody (ANA) value (<i>p</i> = 0.78), or season of the year.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings suggest that the currently referenced levels of vitamin D do not exhibit a significant correlation with disease activity in pediatric patients with autoimmune diseases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144998995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Smoking as a Potential Contributor to Digital Ulcer Development in Patients With Systemic Sclerosis: A Cross-Sectional Study","authors":"Eda Otman,&nbsp;Dilek Solmaz,&nbsp;Sercan Gucenmez,&nbsp;Servet Akar,&nbsp;Mustafa Ozmen","doi":"10.1111/1756-185x.70405","DOIUrl":"https://doi.org/10.1111/1756-185x.70405","url":null,"abstract":"","PeriodicalId":14330,"journal":{"name":"International Journal of Rheumatic Diseases","volume":"28 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144923423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}