In both cases FXIII activity and FXIII-A antigen were undetectable in the plasma and platelet lysate. In the plasma no FXIII-A2B2 antigen was found, while FXIII-B antigen was >30% in both cases. Proband1 was a compound heterozygote possessing a known missense mutation (c.980G>A, p.Arg326Gln) and a novel splice–site mutation (c.1112+2T>C). Proband2 was homozygote for a novel single nucleotide deletion (c.212delA) leading to early stop codon. The discovered
mutations explain the severity of clinical symptoms and the laboratory data. Methods precise in the low activity/antigen range are required to draw valid conclusion on phenotype–genotype relationship. “
“Summary. Hepatitis C is a major co-morbidity in patients with inherited bleeding disorders, leading to progressive liver fibrosis and eventually cirrhosis. Liver stiffness measurement (LSM) is a non-invasive way of assessing the extent of liver fibrosis. Dabrafenib This article describes our experience with serial LSM to assess prospectively progression of fibrosis in a cohort of patients with inherited bleeding disorders and chronic hepatitis C. A total of 84 patients underwent serial LSMs, with a median interval of 3.7 years. The change in LSM results over time was assessed. Overall, there was no significant SAR245409 purchase difference between the median results of LSM 1 and LSM 2. The median result of LSM 2 was low (6.6 kPa), after a median duration of
infection of 37 years. On the individual level, deterioration of LSM results of more than 2 kPa was seen in 13 patients (16%), 44 patients (52%) remained stable and 27 patients (32%) showed improvement
of LSM results of more than 2 kPa. These results are comparable with those of MCE paired liver biopsy studies. LSM appears to be a good alternative for liver biopsies in patients with hepatitis C and inherited bleeding disorders, although the interpretation of the unexpected improvement we found in some of our patients is not straightforward. LSMs will be repeated in our patient population in a few years to be able to better assess the value of serial LSM. “
“Summary. Muscle haematoma represents 10–25% of bleeds in patients with severe haemophilia. There is limited consensus on diagnostic or treatment strategies and little knowledge about the natural history of muscle haematoma and optimal treatment goals. The aim of this review was to perform a systematic description of the natural history of muscle haematoma in healthy athletes, focusing on diagnosis, classification and treatment options. Publications and educational textbooks on management of sports injuries were used as data source. Muscle haematomas occur following contusion, strain, or laceration and can be categorized as mild, moderate, or severe. Muscle haematoma may be inter- or intramuscular. In healthy athletes, the healing process takes 20–40 days.