Structural Conformation and the Binding of Factor VIII R2159C (FVIII-Ise) Mutated in the C1 Domain to Phospholipid.

Background:  We previously identified a factor (F)VIII molecular defect associated with an R2159C mutation in the C1 domain (named "FVIII-Ise") together with undetectable FVIII antigen (FVIII:Ag) levels measured by two-site sandwich ELISA using an anti-C2 domain alloantibody (alloAb). The patient had clinically mild hemophilia A, and his reduced FVIII:C correlated with FVIII:Ag measured by ELISA using monoclonal antibodies (mAbs) with A2 and A2/B domain epitopes, suggesting that the R2159C mutation modified C2 domain antigenicity.

Aim:  To investigate functional and structural characteristics of the FVIII-R2159C mutant.

HINODE study: haemophilia A in infancy and newborns - protocol for a prospective, multicentre, observational study evaluating the coagulation potential and safety of emicizumab prophylaxis.

Introduction: Emicizumab prophylaxis is approved for people of all ages with haemophilia A (HA) including infants and children. Although previous studies have demonstrated the efficacy and tolerability of emicizumab in infants with HA, real-world data on emicizumab use in infants are limited. The Haemophilia A in Infancy and NewbOrns: multi-instituional prospective observational study to assess the efficacy anD safety of Emicizumab (HINODE) study aims to evaluate the coagulation potential and safety of emicizumab prophylaxis in infants with congenital HA from birth to <12 months of age.

Real-World Data on Patients With Acquired Haemophilia A in Japan Undergoing Rehabilitation or With Low Activities of Daily Living Scores: The ORIHIME II Study.

Introduction: Acquired haemophilia A (AHA) is characterized by the development of autoantibodies against factor VIII, reducing its activity and potentially resulting in bleeding.

Aim: To assess the characteristics of people with AHA undergoing rehabilitation and/or with low activities of daily living (ADL) scores, thereby characterizing unmet needs in the management of AHA and informing treatment optimization.

Methods: ORIHIME II, the largest epidemiological and treatment survey of AHA in Japan, is a descriptive, retrospective, observational study conducted using health claims data from April 2008 to October 2021.

Discordant Diagnosis of Coronary Microvascular Dysfunction by Microvascular Resistance Reserve: Transthoracic Doppler Echocardiography vs Bolus Thermodilution Method.

Background: Epicardial stenosis and coronary microvascular dysfunction (CMD) may coexist in patients with chronic coronary syndrome (CCS). Microvascular resistance reserve (MRR) has been demonstrated to be a valid cross-modality metric using continuous saline infusion thermodilution and intracoronary Doppler flow velocity methods. This study aimed to investigate the prevalence and diagnostic concordance of CMD defined by MRR using two methods-stress transthoracic Doppler echocardiography (S-TDE) and the invasive bolus thermodilution method (B-Thermo)-in patients with functionally significant epicardial stenosis.