1/5. Maternal blood coagulation factor XIII is associated with the development of cytotrophoblastic shell.We analysed the early implantation tissues of normal women and of a patient with congenital factor xiii deficiency in order to study the role of maternal subunit A of factor XIII (XIIIA) in the development of extravillous cytotrophoblast. The patient had received adequate administration of factor xiiia concentrate only up to 7 weeks of gestation (wG). Her pregnancy was maintained until the latter half of 8 wG, but was terminated by intrauterine fetal death at 9 wG. Immunohistochemical staining of cytokeratin, XIIIA and subunit S of factor XIII was performed in the early implantation tissues of normal women and of this patient. Numerous well-formed cytotrophoblastic shells and Nitabuch's layers were detected in implantation tissues at 7-8 wG in normal women, and XIIIA was present in the intercellular space in well-formed cytotrophoblastic shells, while the cytotrophoblastic shells and Nitabuch's layers in this patient's implantation tissue were poorly-formed. Furthermore, XIIIA was not detected around them. It is suggested that when the maternal plasma activity of factor XIII is low, the concentration of XIIIA at the placental bed is also low, leading to the insufficient formation of cytotrophoblastic shell and therefore an increased probability of miscarriage in patients with congenital factor xiii deficiency.- - - - - - - - - - ranking = 1keywords = administration (Clic here for more details about this article) |
2/5. Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family.We present the clinical, biochemical and genomic findings of a family with congenital factor XIII (FXIII) deficiency. Congenital FXIII deficiency is a very rare autosomal recessive bleeding disorder, characterized by umbilical cord bleeding at birth and spontaneous intracranial haemorrhage. Routine clotting tests are normal, which may delay the diagnosis, leading to an increased chance of severe sequelae. The propositus and her brother, known with haemorrhagic diathesis, were found to be compound heterozygous with a known missense mutation (1050 G --> T transversion in exon 7, Val316Phe substitution) and a novel mutation 889 G --> A in exon 6, which predicts a Gly262Glu substitution. As these mutations were known in the family, dna obtained from cord blood of the youngest sister was analysed for mutations in exons 6 and 7 only. We postulate that the diagnosis was facilitated by determining the two different mutations in the genotype of this family. The analysis showed that she was heterozygous for the exon 7 mutation. Hence, she was not at risk of experiencing haemorrhagic diathesis. This diagnosis avoided the administration of FXIII concentrate to the newborn.- - - - - - - - - - ranking = 1keywords = administration (Clic here for more details about this article) |
3/5. Subunit A of factor XIII regulates subunit B plasma concentration.Subunit a of Factor XIII is found absent in homozygotes and reduced in heterozygotes. Since a concomitant reduction of subunit b occurs in these cases, an interaction between the loci controlling the synthesis of the two subunits was suggested. However in the present study we have shown that the administration of subunit a in two totally devoid homozygotes produced an increase of subunit b, reaching the maximum concentration five days after infusion. This strongly suggests that subunit b plasma level is regulated on the subunit a plasma amount.- - - - - - - - - - ranking = 1keywords = administration (Clic here for more details about this article) |
4/5. Late hemorrhagic disease of the newborn as a cause of intracerebral bleeding.We report a case of a 4-week-old female who presented with late hemorrhagic disease of the newborn (HDN). The newborn was previously healthy, and she received 1 mg of intramuscular vitamin k at birth. She was exclusively breast-fed. At 4 weeks she began bleeding at the umbilicus and 4 days after she suffered an intracranial hemorrhage. Coagulation studies showed a deficiency of vitamin k-dependent coagulation factors, and the normalization of all clotting studies after administration of vitamin k confirmed the diagnosis of HDN. Our conclusions are that physicians must be alert to mild bleeding in newborns and that prophylaxis with 1 mg of intramuscular vitamin k at birth may be insufficient to prevent late HDN.- - - - - - - - - - ranking = 1keywords = administration (Clic here for more details about this article) |
5/5. Factor XIII insufficiency in a patient with severe psoriasis vulgaris, arthritis, and infirmity.Factor XIII (FXIII) links soluble fibrin monomers and collagen fibres to stable fibrin connections. Deficiency of FXIII, caused by dyspoiesis or increased consumption, results in a bleeding tendency and wound healing complications. Although the decrease of FXIII and successful replacement in patients with wound healing complications after surgery have been described by several authors, it is rarely considered that patients with autoimmune diseases, bleeding or healing complications may suffer from FXIII deficiency. We report a patient with severe psoriasis vulgaris generalisata with large, painful erythemas, bleeding tendency, joint contractions and infirmity, whose FXIII activity was 19%. After successful replacement the bleeding tendency vanished, and a marked improvement of skin and joint mobility allowed mobilisation and administration of physical therapy, whereby some independence and mobility were restored to the patient.- - - - - - - - - - ranking = 1keywords = administration (Clic here for more details about this article) |