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Factor X deficiency (FXD) is a rare autosomal recessive bleeding disorder with a variable phenotypic severity. In women, heavy menstrual bleeding (HMB), recurrent ovulation bleeding with haemoperitoneum and bleeding complications in pregnancy such as retroplacental haematoma and postpartum haemorrhage have been reported. The aim of this review was to examine gynaecological problems and obstetric complications in women with congenital FXD. A total number of 49 relevant articles were identified, including 332...
Brazil has the fourth largest world population of patients with haemophilia. However, mortality rates in this population are unknown.
Cross-sectional comparative study of pharmacokinetics and efficacy between sucrose-formulated recombinant factor VIII (Kogenate ) and BAY 81-8973 (Kovaltry ) in patients with severe or moderate haemophilia A in prophylaxis.
Intra-articular platelet-rich plasma (PRP) injection therapy has been extensively applied in clinical practice to treat musculoskeletal disorders such as osteoarthritis, but the treatment for haemophilic arthropathy is rarely reported.
Only two large duplications of F9 causing haemophilia B (HB) have been reported.
One of the key features of good practice in medicine is the doctor-patient communication. Radiation protection standards for radiosynovectomy (RS) is limited. Yttrium-90 is a beta-emitting radioisotope used in RS to treat joint pain from haemophilic arthritis. ICRP 94 states that if a patient is treated with up to 200 MBq, there is no need for further precautions when it comes to public exposure, however, activities can go up to 370 MBq in RS for the knee. This study analysed 119 family members' safety (1...
Physiotherapy plays a very important role in comprehensive care of patients with haemophilia. Due to limited resources and a lack of understanding among medical personnel, physiotherapy has not become a standard component of comprehensive management of haemophilia in China.
Haemophilic ankle arthropathy may cause joint bleeding, pain, stiffness, erosion and progressive motion limitations, including a decreased range of motion (ROM) secondary to anterior osteophyte impingement.
The haemorrhagic phenotype in patients with von Willebrand disease (VWD) is heterogeneous, and assays of von Willebrand factor ristocetin cofactor activity (VWF:RCo) do not always reflect clinical severity, especially in those individuals classed as type 1 VWD. Recent studies have shown that whole blood ristocetin-induced platelet agglutination (WB-RIPA) using an easy-to-use analyzer, Multiplate® platelet impedance technique, could be informative as a diagnostic test in VWD, although inconsistencies were e...
European guidelines on the care of haemophilia recommend ready access to a range of services provided by a multidisciplinary team of specialists including physiotherapy. However, the scope of physiotherapy provided is unknown.
People with haemophilia represent a population with a high prevalence of HCV infection due to the use of blood components and plasma-derived clotting factor concentrates before the introduction of viral-inactivating procedures (in the 1980s) and screening for HCV (in the 1990s). About 80% of HCV-infected patients have chronic HCV infection, and at least 20% develop end-stage liver disease. The aim of the study was to assess current anti-HCV positivity in a large cohort of Brazilian haemophilia patients and ...
The Patient Reported Outcomes Burdens and Experience (PROBE) study has developed and validated the PROBE questionnaire for assessing patient-reported outcomes in people with haemophilia and participants without bleeding disorders.
The thrombin generation assay-calibrated automated thrombogram (TGA-CAT) method is used to measure the overall coagulation capacity in plasma. However, the method is still considered to be a research tool, mainly because of its' lack of standardization.
Acquired haemophilia A (AHA) is a rare autoimmune bleeding disorder caused by neutralizing antibodies against factor VIII (FVIII). Despite significant initial morbidity and mortality, most patients achieve remission with immunosuppressive therapy.
Classically, the study of splicing impact of variation located near the splice site is performed by both in silico and mRNA analysis. However, RNA sample was rarely available.
Among children with haemophilia and their caregivers; problems arising from the teeth and the surrounding tissues have an important role in the treatment of this disease and it affects the quality of life of children and their parents.
Differences in treatment and outcome have been reported for persons with haemophilia (PWH) on intermediate-dose (Dutch) and high-dose (Swedish) prophylaxis, but the potential influence of sports participation has not been considered.