Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.

Background: Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis and treatment are scarce, highlighting the need to better understand its underlying pathogenesis. Genome-wide association studies (GWAS) have emerged as a powerful tool for unravelling the pathogenic mechanisms involved in complex diseases.

Stroke frequency, associated factors, and clinical features in primary systemic vasculitis: a multicentric observational study.

Objectives: The cerebral vessels may be affected in primary systemic vasculitis (PSV), but little is known about cerebrovascular events (CVEs) in this population. This study aimed to determine the frequency of CVEs at the time of diagnosis of PSV, to identify factors associated with CVEs in PSV, and to explore features and outcomes of stroke in patients with PSV.

Methods: Data from adults newly diagnosed with PSV within the Diagnostic and Classification Criteria in VASculitis (DCVAS) study were analysed.

Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency.

Inflammatory bowel disease (IBD) occurring following allogeneic stem cell transplantation (aSCT) is a very rare condition. The underlying pathogenesis needs to be better defined. There is currently no systematic effort to exclude loss- or gain-of-function mutations in immune-related genes in stem cell donors.

Magnetic Resonance Imaging Findings Corresponding to Vasculitis as Defined via [F]FDG Positron Emission Tomography or Ultrasound.

We sought to investigate magnetic resonance imaging (MRI) parameters that correspond to vasculitis observed via [F]FDG positron emission tomography/computed tomography (PET/CT) and ultrasound in patients with large-vessel giant cell arteritis (LV-GCA). We performed a cross-sectional analysis of patients diagnosed with LV-GCA. Patients were selected if MRI, PET/CT, and vascular ultrasound were performed at the time of LV-GCA diagnosis.

Recommendations for early referral of individuals with suspected polymyalgia rheumatica: an initiative from the international giant cell arteritis and polymyalgia rheumatica study group.

Objective: To develop international consensus-based recommendations for early referral of individuals with suspected polymyalgia rheumatica (PMR).

Methods: A task force including 29 rheumatologists/internists, 4 general practitioners, 4 patients and a healthcare professional emerged from the international giant cell arteritis and PMR study group. The task force supplied clinical questions, subsequently transformed into Population, Intervention, Comparator, Outcome format.

Prior polymyalgia rheumatica is associated with sonographic vasculitic changes in newly diagnosed patients with giant cell arteritis.

Objectives: To investigate the hypothesis that a history of PMR is associated with a more severe and damaging disease course in newly diagnosed GCA patients.

Methods: This was a retrospective analysis of GCA patients diagnosed between December 2006 and May 2021. We compared vascular ultrasound findings (presence of vasculitis and vascular stenosis) in GCA patients with and without prior PMR.

Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation.

Mutations in CD46 predispose to atypical hemolytic uremic syndrome (aHUS) with low penetrance. Factors driving immune-dysregulatory disease in individual mutation carriers have remained ill-understood. In addition to its role as a negative regulator of the complement system, CD46 modifies T cell-intrinsic metabolic adaptation and cytokine production.

Rapid glucocorticoid tapering regimen in patients with giant cell arteritis: a single centre cohort study.

Objectives: We evaluated the feasibility of a rapid glucocorticoid tapering regimen to reduce glucocorticoid exposure in patients with giant cell arteritis (GCA) treated with glucocorticoids only.

Methods: Newly diagnosed patients with GCA treated with a planned 26-week glucocorticoid tapering regimen at the University Hospital Basel were included. Data on relapses, cumulative steroid doses (CSD) and therapy-related adverse effects were collected from patients' records.

Chronic stage magnetic resonance imaging findings in patients with shoulder injury related to vaccine administration (SIRVA).

Purpose: Identify chronic shoulder MRI findings in patients with known shoulder injury related to vaccine administration (SIRVA).

Materials And Methods: Two fellowship-trained musculoskeletal radiologists retrospectively reviewed the MRI of nine patients with clinically established SIRVA. MRI was performed at least 4 weeks after vaccination and included intravenous contrast-enhanced sequences.

Management of giant-cell arteritis in Switzerland: an online national survey.

Aims Of The Study: To assess current practices in diagnosing, treating, and following-up giant-cell arteritis by specialists in Switzerland and to identify the main barriers to using diagnostic tools.

Methods: We performed a national survey of specialists potentially caring for patients with giant-cell arteritis. The survey was sent by email to all members of the Swiss Societies of Rheumatology and for Allergy and Immunology.

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Background: Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare immunodeficiency syndrome manifesting as infant-onset life-threatening and/or opportunistic infections, skeletal malformations, radiosensitivity and neoplasia. LIG4 is pivotal during DNA repair and during V(D)J recombination as it performs the final DNA-break sealing step.

Objectives: This study explored whether monoallelic LIG4 missense mutations may underlie immunodeficiency and autoimmunity with autosomal dominant inheritance.

Case Report: mRNA vaccination-mediated STAT3 overactivation with agranulocytosis and clonal T-LGL expansion.

Vaccines against SARS-CoV-2 are the most effective measure against the COVID-19 pandemic. The safety profile of mRNA vaccines in patients with rare diseases has not been assessed systematically in the clinical trials, as these patients were typically excluded. This report describes the occurrence of agranulocytosis within days following the first dose of an mRNA-1273 vaccination against COVID-19 in a previously healthy older adult.

[Update Gout].

Update Gout Gout, the most frequent arthritis worldwide, is seldomly considered a serious chronic disease. Cardiovascular morbidity and allover mortality are increased in gout patients. Prevalence of gout is very variable in different countries and is estimated to be 2.

Long delay from symptom onset to first consultation contributes to permanent vision loss in patients with giant cell arteritis: a cohort study.

Objectives: To characterise factors associated with permanent vision loss (PVL) and potential reasons for the therapeutic delay contributing to PVL in giant cell arteritis (GCA).

Methods: Retrospective analysis of GCA patients diagnosed at the University Hospital Basel between December 2006 and May 2021.

Results: Of 282 patients with GCA (64% females), 49 (17.

The provisional OMERACT ultrasonography score for giant cell arteritis.

Objectives: To develop an Outcome Measures in Rheumatology (OMERACT) ultrasonography score for monitoring disease activity in giant cell arteritis (GCA) and evaluate its metric properties.

Methods: The OMERACT Instrument Selection Algorithm was followed. Forty-nine members of the OMERACT ultrasonography large vessel vasculitis working group were invited to seven Delphi rounds.

Intravenous tocilizumab for the treatment of giant cell arteritis: a phase Ib dose-ranging pharmacokinetic bridging study.

Background: Subcutaneous tocilizumab (TCZ SC) is approved globally for giant cell arteritis (GCA). This phase Ib study investigated the pharmacokinetics, pharmacodynamics, safety, and exploratory efficacy of intravenous (IV) TCZ 6 and 7 mg/kg in patients with GCA. This study explored an IV dose resulting in a minimum exposure level within the range of effective trough concentrations achieved with TCZ SC dosing in GCA and not exceeding the exposure of the well-tolerated 8 mg/kg IV every 4 weeks (Q4W) in rheumatoid arthritis (RA).

[ANCA-Associated Vasculitides].

ANCA-Associated Vasculitides The according to their immunoserological markers (anti-neutrophil cytoplasmic antibodies - ANCA) named ANCA-associated vasculitides (AAV) are classified following the Chapel Hill nomenclature (2012). Microscopic polyangiitis (MPA), granulomatosis with polyangiitis (GPA), and eosinophilic granulomatosis with polyangiitis (EGPA) are categorized according to clinical, histological, and imaging findings. GPA and EGPA mainly differ from MPA in the presence of granulomatous inflammation within the airways.

Skeletal Muscle Disorders: A Noncardiac Source of Cardiac Troponin T.

Background: Cardiac troponin (cTn) T and cTnI are considered cardiac specific and equivalent in the diagnosis of acute myocardial infarction. Previous studies suggested rare skeletal myopathies as a noncardiac source of cTnT. We aimed to confirm the reliability/cardiac specificity of cTnT in patients with various skeletal muscle disorders (SMDs).