Structural alterations and pain perception at the ankle joint in patients with haemophilia.

Background: Patients with haemophilia (PwH) suffer from chronic pain due to joint alterations induced by recurring haemorrhage.

Objectives: This study aimed to investigate the relationship between structural alterations and pain perception at the ankle joint in PwH.

Patients/methods: Ankle joints of 79 PwH and 57 healthy controls (Con) underwent ultrasound examination (US) and assessment of pain sensitivity via pressure pain thresholds (PPT).

Consensus Recommendations for Intramuscular COVID-19 Vaccination in Patients with Hemophilia.

Background:  Currently available coronavirus disease 2019 (COVID-19) vaccines are approved for intramuscular injection and efficacy may not be ensured when given subcutaneously. For years, subcutaneous vaccination was recommended in patients with hemophilia to avoid intramuscular bleeds. Therefore, recommendations for the application of COVID-19 vaccines are needed.

Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.

Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder characterised by quantitative and/or qualitative defects of the platelet glycoprotein (GP) IIb/IIIa complex, also called integrin αIIbβ3. αIIbβ3 is well known as a platelet fibrinogen receptor and mediates platelet aggregation, firm adhesion, and spreading. This study describes the molecular genetic analyses of 19 patients with GT who were diagnosed on the basis of clinical parameters and platelet analyses.

HLA-haploidentical blood progenitor cell transplantation in osteopetrosis.

Infantile osteopetrosis (OP) carries an extremely poor prognosis unless treated early by hematopoietic stem cell transplantation. We explored the use of purified blood progenitor cells from HLA-haploidentical parents in 7 patients lacking suitable matched donors. Blood progenitor cells were purified by positive selection and by additional T-cell depletion using rosette formation.