PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.

Background: Hypomorphic mutations in the () gene cause a glycosylation disorder that leads to immunodeficiency. It is often associated with recurrent infections and atopy. The exact etiology of this condition remains unclear.

Paucity of viral infection symptoms in patients with immune-mediated inflammatory diseases.

Objectives: Although patients with immune-mediated inflammatory diseases (IMID) are thought to be more susceptible to viral infections, it is unclear whether their presentation differs between patients with IMID and healthy controls. This study aimed to investigate the symptom pattern of common viral infections in patients with IMID and compare it with controls without IMIDs.

Design: A cross-sectional study conducted between 1 February and 30 April 2020, using a questionnaire.

Case report: Detecting giant cell arteritis in [Ga]Ga-DOTA-Siglec-9-PET/CT.

Objectives: This study aimed to evaluate the diagnostic utility of [Ga]Ga-DOTA-Siglec-9 positron emission tomography-computed tomography (PET/CT) in assessing disease activity in a patient experiencing a relapse of giant cell arteritis (GCA).

Case Presentation: A 90-year-old male patient with GCA, diagnosed in 2018, was enrolled. Demographic data, disease history, and laboratory parameters, including soluble VAP-1 (sVAP-1) levels, were recorded.

Uncommon concurrent pulmonary infections: and in an Anti-MDA5 antibody-positive dermatomyositis patient.

A 59-year-old female with anti-MDA5 antibody-positive dermatomyositis was treated with prednisolone, tacrolimus, cyclophosphamide, tofacitinib, and plasma exchange. Five months post-treatment, elevated β-D-glucan levels and a pulmonary shadow on CT were noted. was identified, leading to voriconazole initiation.

Gastrointestinal lesions of eosinophilic granulomatosis with polyangiitis: a prediction model and clinical patterns.

Objective: Severe gastrointestinal lesions are associated with a poor prognosis in eosinophilic granulomatosis with polyangiitis (EGPA). The goal of this study was to develop an effective predictive model for gastrointestinal lesions and to examine clinical patterns, associated factors, treatment, and outcomes of gastrointestinal lesions in EGPA.

Methods: We retrospectively enrolled 165 EGPA patients.

Clinical and Radiologic Differences in Lung Involvement Between IgG4-Related Disease and Plasma Cell-Type Idiopathic Multicentric Castleman Disease.

Purposes: Immunoglobulin G4-related disease (IgG4-RD) and plasma cell-type idiopathic multicentric Castleman disease (PC-iMCD) have many overlapping features. Their differential diagnosis is challenging and crucial for clinical management due to their different prognoses and treatments. However, reports that compare these conditions are scarce, especially for patients with lung involvement.

International Consensus Guidance for the Management of Glucocorticoid Related Complications in Neuromuscular Disease.

Introduction/aims: Glucocorticoid (GC)-related adverse reactions and risks are commonly seen during the treatment of immune-mediated and inflammatory neuromuscular disorders. There is wide variation in the management of associated complications. The aim of this study is to develop international consensus guidance on the management of GC-related complications in neuromuscular disorders.

Gene expression profiling in PBMCs for acute rejection in lung transplant recipients reveals myeloid responses.

The acute rejection (AR) diagnosis depends on transbronchial biopsy, which is semi-invasive and not easily performed Our study used the Nanostring gene expression technology on PBMCs obtained from lung transplant recipients (LTRs) to search for biomarkers. We identified distinct differential gene profiles between patients with stable status (STA) and AR. Subsequently, we independently evaluated monocyte compositions in PBMCs using flow cytometry and assessed the levels of 7 chemokines in serum using Luminex.

Induction of interleukin 21 receptor expression via enhanced intracellular metabolism in B cells and its relevance to the disease activity in systemic lupus erythematosus.

Objective: To elucidate the association between the changes in intracellular metabolism in the early stage of B cell activation and systemic lupus erythematosus (SLE) pathogenesis.

Methods: CD19 or CD19CD27 (naïve) cells from the peripheral blood of healthy controls and lupus patients were cultured under different stimuli. The changes in intracellular metabolism and signalling pathways in these cells were evaluated.

Impaired coagulation parameters in early RA are restored by effective antirheumatic therapy: a prospective pilot study.

Objectives: To assess the effect of treatment on haemostatic parameters in patients with early rheumatoid arthritis (RA).

Methods: Patients with newly diagnosed RA started methotrexate and were randomised to additional conventional treatment, certolizumab pegol, abatacept or tocilizumab. Several biomarkers for haemostasis were analysed including parameters of the two global haemostatic assays-overall haemostatic potential (OHP) and endogenous thrombin potential (ETP), as well as single haemostatic factors-fibrinogen, prothrombin fragment 1+2 (F1+2), D-dimer, thrombin activatable fibrinolysis inhibitor (TAFI) and clot lysis time (CLT) in 24 patients at baseline, 12 and 24 weeks after the start of the treatment.

Systematic literature review and meta-analysis informing the EULAR points to consider on the initiation of targeted therapies in patients with inflammatory arthritis and a history of cancer.

Background: Targeted therapies have been associated with potential risk of malignancy, which is a common concern in daily rheumatology practice in patients with inflammatory arthritis (IA) and a history of cancer.

Objectives: To perform a systematic literature review to inform a Task Force formulating EULAR points to consider on the initiation of targeted therapies in patients with IA and a history of cancer.

Methods: Specific research questions were defined within the Task Force before formulating the exact research queries with a librarian.

2024 EULAR points to consider on the initiation of targeted therapies in patients with inflammatory arthritis and a history of cancer.

Background: Potential associations between targeted therapies and a new cancer in patients with inflammatory arthritis (IA) and a previous malignancy are a frequent concern in daily rheumatology practice.

Objectives: To develop points to consider (PTC) to assist rheumatologists when initiating a targeted therapy in the context of a previous malignancy.

Methods: Following EULAR standardised operating procedures, a task force met to define the research questions for a systematic literature review and to formulate the overarching principles (OPs) and the PTC.

Zymosan-Treated SKG Mice: Assessing Effects of Systemic Inflammation on the Temporomandibular Joint.

Objectives: The effects of systemic inflammation on the temporomandibular joint (TMJ) are poorly understood. This study aimed to establish a mouse model to study the effects of systemic inflammation on the TMJ.

Materials And Methods: SKG mice, a BALB/c strain with spontaneous onset of rheumatoid arthritis-like symptoms due to a spontaneous point mutation (W163C) in the gene encoding the SH2 domain of ZAP-70, were treated with zymosan (β-1,3-glucan).

C3 deficiency promotes pulmonary inflammation in AT1R-induced mouse model for systemic sclerosis.

Introduction: Autoantibody-mediated complement activation plays an essential role in a variety of autoimmune disorders. However, the role of complement in systemic sclerosis (SSc) remains largely unknown. In this study, we aimed to determine the role of complement C3 in the development of a recently described SSc mouse model based on autoimmunity to angiotensin II receptor type 1 (AT1R).

Quantitative ultrasound imaging reveals distinct fracture-associated differences in tibial intracortical pore morphology and viscoelastic properties in aged individuals with and without diabetes mellitus - an exploratory study.

Introduction: Diabetes mellitus (DM) is a chronic metabolic disorder that increases fragility fracture risk. Conventional DXA-based areal bone mineral density (aBMD) assessments often underestimate this risk. Cortical Backscatter (CortBS) ultrasound, a radiation-free technique, non-invasively analyzes cortical bone's viscoelastic and microstructural properties.

Thymidine phosphorylase participates in platelet activation and promotes inflammation in rheumatoid arthritis.

The elevated risk of cardiovascular disease (CVD) associated with inflammatory rheumatic diseases has long been recognized. Patients with established rheumatoid arthritis (RA) have a higher mortality rate compared to the general population due to abnormal platelet activation. Thymidine phosphorylase (TYMP) plays a crucial role in platelet activation and thrombosis, following bridging the link between RA and CVD.

Risk prediction of new-onset thrombocytopenia in patients with systemic lupus erythematosus: a multicenter prospective cohort study based on Chinese SLE treatment and research group (CSTAR) registry.

Background: Thrombocytopenia (TP) is a hematological manifestation of systemic lupus erythematosus (SLE) and is associated with unfavorable prognostic outcomes. This study aimed to develop a risk prediction model for new-onset TP in SLE patients.

Methods: Based on the multicenter prospective Chinese SLE Treatment and Research Group (CSTAR) registry, newly diagnosed SLE patients without TP at registration were enrolled.

Distinct pathophysiological pathways support stratification of Sjögren's disease based on symptoms, clinical, and routine biological data.

Objective: Recently, three distinct phenotypes of Sjögren's disease (SjD) patients have been described, based on cluster analysis: B-cell active with low symptoms (BALS), high systemic activity (HSA), and low systemic activity with high symptoms (LSAHS). We aimed to assess whether these clusters were associated with distinct biomarkers and the prognostic value of IFN signature.

Methods: The ASSESS cohort is a 20-year prospective cohort of SjD patients.

Microphysiological System-Generated Physiological Shear Forces Reduce TNF-α-Mediated Cartilage Damage in a 3D Model of Arthritis.

Osteoarthritis (OA) is a leading cause of disability, often resulting from overuse or injury, but inactivity can also contribute to cartilage degeneration. Conventional in vivo models struggle to isolate and study the specific effects of mechanical stress on cartilage health. To address this limitation, a microphysiological system (MPS) is established to examine how varying levels of shear stress impact cartilage homeostasis.

Recent developments in connective tissue disease associated pulmonary arterial hypertension.

Connective tissue disease associated pulmonary arterial hypertension (CTD-PAH) has benefited from the major treatment advances that have occurred within pulmonary hypertension over the past three decades. Inclusion of CTD-PAH cases in pivotal clinical trials led to regulatory approval and drug availability. This has improved outcomes but there are additional challenges for management.