Assessing the Clinical Utility of Antinuclear Antibody Titer Dilutions, Antinuclear Antibody Staining Patterns, and Other Common Laboratory Tests in Juvenile Idiopathic Arthritis.

Chronic musculoskeletal pain in pediatric patients can be challenging to diagnose, particularly in the absence of overt signs of autoimmune disease, as these episodes can manifest episodically. We present a case of a 14-year-old female patient with a two-year history of episodic "bone pain," morning stiffness, and infrequent fever and fatigue. Laboratory testing revealed an antinuclear antibody (ANA) titer of 1:1280 with a nuclear homogeneous pattern and a mildly elevated erythrocyte sedimentation rate (ESR).

Enhanced thrombin and plasmin generation profiles in alpha-2-antiplasmin-deficient patients: Data from the Rare Bleeding disorders in the Netherlands study.

Background: α2-Antiplasmin (A2AP) deficiency is a rare and often unidentified disorder characterized by increased fibrinolysis and subsequent bleeding. Global hemostasis assays may increase insight into the altered coagulation and fibrinolysis in these patients.

Objectives: To explore thrombin and plasmin generation profiles in A2AP-deficient patients, corresponding A2AP activity levels and associated bleeding phenotypes.

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Background: Rare coagulation factor deficiencies and disorders of fibrinolysis (defined as rare bleeding disorders [RBDs]) present with a heterogeneous bleeding phenotype, and bleeding severity is difficult to predict.

Objectives: Describe underlying rare genetic variants in the Dutch RBD population and investigate the relationship between genotype, laboratory phenotype, and clinical phenotype.

Methods: The Rare Bleeding Disorders in the Netherlands is a cross-sectional, nationwide study conducted between October 1, 2017, and November 30, 2019.

Point-of-Care Testing in Patients with Hereditary Disorders of Primary Hemostasis: A Narrative Review.

Inherited disorders of primary hemostasis, such as von Willebrand disease and congenital platelet disorders, can cause extensive, typically mucocutaneous bleeding. Assays to diagnose and monitor these disorders, such as von Willebrand factor activity assays and light transmission aggregometry, are performed in specialized hemostasis laboratories but are commonly not available in local hospitals. Due to the complexity and relative scarcity of these conventional assays, point-of-care tests (POCT) might be an attractive alternative in patients with hereditary bleeding disorders.