Atrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease Models.

Background: Protein-truncating mutations in the titin gene are associated with increased risk of atrial fibrillation. However, little is known about the underlying pathophysiology.

Methods: We identified a heterozygous titin truncating variant (TTNtv) in a patient with unexplained early onset atrial fibrillation and normal ventricular function.

Coronavirus Disease 2019 (COVID-19) Real World Data Infrastructure: A Big-Data Resource for Study of the Impact of COVID-19 in Patient Populations With Immunocompromising Conditions.

Background: We developed a United States-based real-world data resource to better understand the continued impact of the coronavirus disease 2019 (COVID-19) pandemic on immunocompromised patients, who are typically underrepresented in prospective studies and clinical trials.

Methods: The COVID-19 Real World Data infrastructure (CRWDi) was created by linking and harmonizing de-identified HealthVerity medical and pharmacy claims data from 1 December 2018 to 31 December 2023, with severe acute respiratory syndrome coronavirus 2 virologic and serologic laboratory data from major commercial laboratories and Northwell Health; COVID-19 vaccination data; and, for patients with cancer, 2010 to 2021 National Cancer Institute Surveillance, Epidemiology, and End Results registry data.

Results: The CRWDi contains 4 cohorts: patients with cancer; patients with rheumatic diseases receiving pharmacotherapy; noncancer solid organ and hematopoietic stem cell transplant recipients; and people from the general population including adults and pediatric patients.

Association of Therapies for Axial Spondyloarthritis on the Risk of Hip and Spine Fractures.

Objective: People with axial spondyloarthritis (axSpA) have increased fracture risk relative to the general population, possibly related to those with chronic inflammation. We assessed the impact of treatment with receiving tumor necrosis factor inhibitors (TNFis) and nonbiologic conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) on hip and spine fractures in patients with axSpA, relative to receiving nonsteroidal anti-inflammatory drugs (NSAIDs).

Methods: We conducted a nested case-control study using 2006 to 2021 data from the Merative MarketScan Database.

Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients.

The goal of this study was to assess patients' prior exposure and current level of knowledge of polygenic risk scores (PRSs). We also explored reactions to receiving a high-risk or low-risk score, and gauged the overall attitudes and demand patients have with regards to PRSs. We developed an online investigator-designed survey based on existing validated tools in genetic testing.

Use of Biologic or Targeted Synthetic Disease-Modifying Antirheumatic Drugs and Cancer Risk.

Importance: The Oral Rheumatoid Arthritis Trial Surveillance demonstrated an increased cancer risk among patients with rheumatoid arthritis (RA) taking tofacitinib compared with those taking tumor necrosis factor inhibitors (TNFis). Although international cohort studies have compared cancer outcomes between TNFis, non-TNFi drugs, and Janus kinase inhibitor (JAKis), their generalizability to US patients with RA is limited.

Objective: To assess the comparative safety of TNFis, non-TNFi drugs, and JAKis among US patients with RA (ie, the cancer risk associated with the use of these drugs among these patients).