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View article: OC 06.2 Emicizumab for Acquired Hemophilia A - A Case Series
OC 06.2 Emicizumab for Acquired Hemophilia A - A Case Series Open
FVIII levels ≤0.20 IU/mL, showed a Mim8 dose dependent interference increase with the largest fold increase (2.4 to 4.5, ADVATE ® ) at low FVIII levels (0.05 IU/mL).More interference by Mim8 was observed in SHL products.As FVIII levels inc…
View article: Emicizumab for acquired haemophilia A: A case series
Emicizumab for acquired haemophilia A: A case series Open
Background Emicizumab is approved to prevent bleeding in patients with congenital haemophilia A with or without inhibitors. However, no randomized trials addressed the efficacy of emicizumab in acquired haemophilia A (AHA). Aims To report …
View article: Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B
Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B Open
Etranacogene dezaparvovec gene therapy was superior to prophylactic factor IX with respect to the annualized bleeding rate, and it had a favorable safety profile. (Funded by uniQure and CSL Behring; HOPE-B ClinicalTrials.gov number, NCT035…
View article: Ribosome dysfunction underlies SLFN14-related thrombocytopenia
Ribosome dysfunction underlies SLFN14-related thrombocytopenia Open
Pathogenic missense variants in SLFN14, which encodes an RNA endoribonuclease protein that regulates rRNA degradation, are known to cause inherited thrombocytopenia with impaired platelet aggregation and ATP secretion. Despite rather mild …
View article: F11 Gene Duplication Causes Elevated FXI Plasma Levels and Is a Risk for Venous Thrombosis
F11 Gene Duplication Causes Elevated FXI Plasma Levels and Is a Risk for Venous Thrombosis Open
Coagulation factor XI (FXI) is the zymogen of a plasma protease encoded by F11 located on 4q35.2 and is mainly synthesized by hepatocytes.[1] [2] FXI is activated by coagulation factor XIIa and plays an important role in the intrinsic coag…
View article: Patient preferences for gene therapy in haemophilia: Results from the PAVING threshold technique survey
Patient preferences for gene therapy in haemophilia: Results from the PAVING threshold technique survey Open
Objectives The aim of the Patient preferences to Assess Value IN Gene therapies (PAVING) study was to investigate trade‐offs that adult Belgian people with haemophilia (PWH) A and B are willing to make when choosing between prophylactic fa…
View article: Venous Thromboembolism in Patients Discharged after COVID-19 Hospitalization
Venous Thromboembolism in Patients Discharged after COVID-19 Hospitalization Open
Background Venous thromboembolism (VTE) is a frequent complication of COVID-19, so that the importance of adequate in-hospital thromboprophylaxis in patients hospitalized with COVID-19 is well established. However, the incidence of VTE aft…
View article: Patient perspectives regarding gene therapy in haemophilia: Interviews from the PAVING study
Patient perspectives regarding gene therapy in haemophilia: Interviews from the PAVING study Open
This qualitative study showed that most PWH have a positive attitude towards gene therapy and that besides efficacy, safety and the related uncertainties, also impact on daily life is important to patients. The identified patient-relevant …
View article: Heparin is more effective than apixaban in inhibiting in vitro contact activated coagulation
Heparin is more effective than apixaban in inhibiting in vitro contact activated coagulation Open
Introduction Contact of blood with artificial surfaces such as mechanical support devices, catheters, and mechanical heart valves activates the contact activation (CA) pathway of coagulation. Furthermore, recent animal data and clinical st…
View article: A coagulation defect arising from heterozygous premature termination of tissue factor
A coagulation defect arising from heterozygous premature termination of tissue factor Open
Tissue factor (TF) is the primary initiator of blood coagulation in vivo and the only blood coagulation factor for which a human genetic defect has not been described. As there are no routine clinical assays that capture the contribution o…
View article: Acquired multi‐segment foot kinematics in haemophilic children, adolescents and young adults with or without haemophilic ankle arthropathy
Acquired multi‐segment foot kinematics in haemophilic children, adolescents and young adults with or without haemophilic ankle arthropathy Open
Introduction and aim The ankle joint remains vulnerable in children with haemophilia and is the primary joint affected. The purpose of this study was to dynamically characterize the segmental foot and ankle kinematics of male children, ado…
View article: Blood‐induced cartilage damage alters the ankle joint load during walking
Blood‐induced cartilage damage alters the ankle joint load during walking Open
Ankle cartilage damage due to repeated joint bleeds often leads to altered gait in adult patients with hemophilia. It is therefore of clinical importance to develop an understanding of the biomechanical gait features in hemophilia patients…
View article: Anticoagulant therapy in COVID-19 critically ill: Should we go for more? // Antithrombotische Therapie sehr kranker COVID-19-Patienten
Anticoagulant therapy in COVID-19 critically ill: Should we go for more? // Antithrombotische Therapie sehr kranker COVID-19-Patienten Open
Critically ill COVID-19 patients often develop a severe pro-thrombotic milieu, as reflected by the markedly increased d‑dimer levels. Several cohort studies have reported high rates of thrombotic complications, including deep venous …
View article: The biomechanical behaviour of ankle and foot joints during walking with shoes in patients with haemophilia
The biomechanical behaviour of ankle and foot joints during walking with shoes in patients with haemophilia Open
Introduction Patients with haemophilia (PwH) often prefer shod walking over barefoot walking as footwear offers ankle joint stability and comfort during gait. Yet, the biomechanical mechanisms contributing to the latter remain poorly under…
View article: Clinical gait features are associated with MRI findings in patients with haemophilic ankle arthropathy
Clinical gait features are associated with MRI findings in patients with haemophilic ankle arthropathy Open
Introduction Haemophilic ankle arthropathy due to repeated joint bleeds often leads to altered gait in adult patients with haemophilia. Aim To investigate the association between clinical gait features and blood‐induced ankle joint damage …
View article: Accurate measurement of extended half‐life and unmodified factor VIII low levels with one‐stage FVIII assays is dependent on the matrix of calibration curves
Accurate measurement of extended half‐life and unmodified factor VIII low levels with one‐stage FVIII assays is dependent on the matrix of calibration curves Open
Introduction The monitoring of factor VIII (FVIII) replacement therapy relies on the accurate measurement of FVIII activity over a large concentration range. However, unexplained overestimation of low FVIII levels has recently been reporte…
View article: Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses Open
Contains fulltext : 206781.pdf (Publisher’s version ) (Open Access)
View article: A rare presentation of homozygous factor X deficiency in a pregnant patient: A case report and review of the literature
A rare presentation of homozygous factor X deficiency in a pregnant patient: A case report and review of the literature Open
Dear Editor, Congenital factor X (FX) deficiency is an extremely rare, autosomal recessive inherited condition with an estimated incidence of 1:1 000 000 with an eightfold to 10‐fold increase in frequency in populations with consanguineous…
View article: New challenges and best practices for the laboratory monitoring of factor <scp>VIII</scp> and factor <scp>IX</scp> replacement
New challenges and best practices for the laboratory monitoring of factor <span>VIII</span> and factor <span>IX</span> replacement Open
Several recombinant factor VIII and factor IX concentrates with extended half‐life (EHL) have recently been validated by clinical studies. The availability of these novel concentrates is expected to significantly facilitate the treatment o…
View article: Reliability and clinical features associated with the <scp>IPSG MRI</scp> tibiotalar and subtalar joint scores in children, adolescents and young adults with haemophilia
Reliability and clinical features associated with the <span>IPSG MRI</span> tibiotalar and subtalar joint scores in children, adolescents and young adults with haemophilia Open
Objectives To assess the reliability of the IPSG MRI scale for tibiotalar ( TTJ ) and subtalar joint ( STJ ) changes in young haemophilic patients, correlating MRI findings with functional scores and 3D‐rearfoot kinematics. Methods A total…
View article: Deficits of ankle muscle strength not found in children, adolescents and young adults with haemophilic ankle arthropathy
Deficits of ankle muscle strength not found in children, adolescents and young adults with haemophilic ankle arthropathy Open
Objectives Adequate management of haemophilia patients requires early detection of joint impairment in relatively asymptomatic patients. This study sought to quantify the impact of the ankle's structural impairment on muscle strength in ch…