Use of Metagenomic Microbial Plasma Cell-Free DNA Next-Generation Sequencing Assay in Outpatient Rheumatology Practice.

Objective: To assess the utility of a metagenomic microbial plasma cell-free DNA next-generation sequencing assay (Karius Test [KT]) in the evaluation of patients in an outpatient rheumatology practice.

Methods: All patients with a KT ordered and obtained by a rheumatology provider in the outpatient setting from January 1, 2020, through December 31, 2022, were retrospectively identified. Demographic, clinical, laboratory, radiologic, histopathology, and microbial studies were abstracted.

Clinical phenotype, genotypes, and treatment observations in Yao syndrome: a retrospective case series.

Objective: The aim of this study was to characterize the phenotype and genotype of patients with Yao syndrome (YAOS), with focus on comparing to prior cohorts, identifying novel features, and describing treatment observations.

Methods: A retrospective medical records review of patients with YAOS seen at Mayo Clinic was conducted to characterize clinical features, genotypes, and therapeutic trials and responses.

Results: Twenty-two patients diagnosed with YAOS were included.

Relapse Risk and Safety of Long-Term Tocilizumab Use Among Patients With Giant Cell Arteritis: A Single-Enterprise Cohort Study.

Objective: To evaluate the safety and efficacy of tocilizumab (TCZ) in giant cell arteritis (GCA) in a large North American cohort.

Methods: Patients with GCA treated with TCZ between January 1, 2010, and May 15, 2020, were retrospectively identified. Kaplan-Meier methods were used to estimate time to TCZ discontinuation and time to first relapse after TCZ discontinuation.

Pulmonary manifestations in VEXAS syndrome.

Background: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently recognized multisystem disorder caused by somatic mutations in the UBA1 gene.

Methods: A retrospective cohort study was conducted on all patients with VEXAS syndrome evaluated at our institution from June 2020 through May 2022. Medical records and chest imaging studies were reviewed.

VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis.

VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by somatic mutations in the UBA1 gene resulting in refractory autoinflammatory features, frequently accompanied by cytopenias. Although the prevalence of this syndrome is yet unknown, understanding the clinical phenotype can assist clinicians in prompt recognition of cases among patients with glucocorticoid-responsive but immunosuppressive-resistant inflammatory symptoms. The pathophysiology, clinical presentation, diagnostic methods, treatment, and prognosis of VEXAS are herein reviewed.

Clinical Heterogeneity of the VEXAS Syndrome: A Case Series.

The objective of this study is to describe the clinical features and outcomes of patients with the newly defined vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Nine men with somatic mutations in the UBA1 gene were identified; the most frequent variant was p.Met41Thr (7 of 9, 78%).

80-year-old man with dyspnoea and bilateral groundglass infiltrates: an elusive case of COVID-19.

COVID-19 is a novel viral infection caused by severe acute respiratory syndrome-coronavirus-2 virus, first identified in Wuhan, China in December 2019. COVID-19 has spread rapidly and is now considered a global pandemic. We present a case of a patient with minimal respiratory symptoms but prominent bilateral groundglass opacities in a 'crazy paving' pattern on chest CT imaging and a negative initial infectious workup.

Diffuse large B cell lymphoma involving Meckel's cave masquerading as biopsy-negative giant cell arteritis: a case report.

Background: Given the absence of consensus diagnostic criteria for giant cell arteritis, clinicians may encounter difficulty with identification of new-onset headache in patients older than age 50 years presenting with visual changes and elevated inflammatory markers, particularly if temporal artery biopsies are performed and negative.

Case Presentation: We present a case of a 57-year-old white man with headache, diplopia, and jaw paresthesia initially diagnosed and managed as steroid-refractory biopsy-negative giant cell arteritis. Further investigation disclosed evidence of soft tissue infiltration into Meckel's (trigeminal) cave bilaterally.