1/12. Emergency correction of coagulation for mitral valve replacement in an orally anticoagulated 17-year-old patient with pronounced hepatic dysfunction.A 17-year-old patient with Shone's disease had to be readmitted to the hospital 3 months after implantation of an artificial aortic valve because of extreme mitral insufficiency with consecutive pulmonary edema and hepatic dysfunction. He had been orally anticoagulated and presented with a high international normalized ratio of 6.7. Emergency replacement of the mitral valve was possible only after administration of prothrombin-complex concentrate, as vitamin k(1) and fresh frozen plasma did not correct the hemostatic defect sufficiently.- - - - - - - - - - ranking = 1keywords = coagulation (Clic here for more details about this article) |
2/12. budd-chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.A 6-year-old male patient presented with budd-chiari syndrome and glycoprotein abnormalities associated with carbohydrate deficient glycoprotein syndrome type I with yet unidentified molecular defect (type Ix). budd-chiari syndrome most likely developed after hepatic venous thrombosis caused by coagulation abnormalities resulting from hypoglycosylation and functional impairment of anticoagulant proteins.- - - - - - - - - - ranking = 1.25keywords = coagulation (Clic here for more details about this article) |
3/12. Treatment of deep vein thrombosis using temporary vena caval filters after allogeneic bone marrow transplantation.Bone marrow transplant (BMT) recipients have risk factors for deep vein thrombosis (DVT) including venous stasis caused by immobilization in the sterile unit, vessel wall damage caused by preparative regimen or indwelling catheters, and hypercoagulability caused by decreased natural anticoagulants. We successfully treated a patient who developed massive DVT in the superior vena cava after BMT with anticoagulation and the use of temporary vena caval filters. Considering the delayed complications, permanent filter is not appropriate for BMT recipients, because the risk factors for DVT associated with BMT are transient. We considered that temporary vena caval filter is a safe and useful device to prevent pulmonary embolism after DVT in BMT recipients.- - - - - - - - - - ranking = 0.25keywords = coagulation (Clic here for more details about this article) |
4/12. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy.BACKGROUND: Combined deficiency of vitamin k-dependent coagulation factors (II, VII, IX, X) is an uncommon challenge for the expectant gravida. CASE: A 34-year-old primigravida had congenital combined deficiency of factors II, VII, IX, and X that were incompletely sensitive to vitamin k. She had an altered form of vitamin k-dependent factors that retained immunologic activity but lacked coagulant activity and the normal complement of gamma-carboxyglutamic acid residues. She required vitamin k supplementation throughout her life. After an uneventful pregnancy she had postpartum hemorrhage resulting from an episiotomy. Fresh frozen plasma was administered to achieve hemostasis. The remainder of her postpartum course was normal. CONCLUSION: Combined congenital deficiency of factors II, VII, IX, and X can be managed in pregnancy with the use of vitamin k and fresh frozen plasma.- - - - - - - - - - ranking = 0.25keywords = coagulation (Clic here for more details about this article) |
5/12. Management of splenic trauma in the pediatric hemophiliac patient: Case series and review of the literature.In July and August 1998, 3 patients who attend the Hemophilia Treatment Center required emergency admission to the authors' hospital for management of hemorrhagic shock caused by splenic injury. Computed tomography was used to diagnose and grade the splenic injuries, which ranged from II to IV on the organ injury scale. Two patients had Christmas disease (factor ix deficiency) and were treated with splenorrhaphy and factor ix replacement. One patient who has severe von Willebrand disease (Type 3) had grade II splenic injury that required splenectomy to secure hemostasis. The coagulopathic deficiency was aggressively treated in each patient. All patients required operative intervention with attempted splenorrhaphy. All patients survived their operative experience, and none suffered a rebleeding episode. With correction of the coagulopathy throughout the perioperative period and local hemostatic control by operative techniques, salvage procedures for splenic injury were successful for 2 of these 3 patients.- - - - - - - - - - ranking = 0.011182959292544keywords = coagulopathy (Clic here for more details about this article) |
6/12. fibrinogen Saint-Germain I: a case of the heterozygous Aalpha GLY 12 --> VAL fibrinogen variant.A fibrinogen variant was suspected based on the results of routine coagulation tests in a 2-year-old asymptomatic child. Coagulation studies showed marked prolongation of both the thrombin and reptilase times, and discrepancy was noted between the level of plasma fibrinogen as measured by a kinetic versus immunological determination. family studies revealed that the father beared the same abnormality. Studies of purified fibrinogen revealed an impaired release of both fibrinopeptides by thrombin. Fibrin monomer polymerization and fibrin stabilization were normal. dna sequencing revealed a heterozygous G --> T point mutation in exon 2 of the gene coding for the Aalpha chain, which substituted a Gly for Val at position 12. Although the mutation is the same as in fibrinogen Rouen, fibrinogen Saint-Germain I shows a different fibrinopeptide release pattern and a mild factor v deficiency.- - - - - - - - - - ranking = 0.25keywords = coagulation (Clic here for more details about this article) |
7/12. Restrictive interatrial communication with protein-losing enteropathy and coagulopathy in hypoplastic left heart syndrome after Norwood palliation.The Norwood procedure is one option for neonates born with hypoplastic left heart syndrome. We describe a case of an infant with hypoplastic left heart syndrome, palliatively repaired with the Norwood procedure. The infant developed restriction of the interatrial communication, despite atrioseptectomy at the first stage of palliation. Consequently, a protein-losing enteropathy with severe coagulopathy developed which resolved after a repeat atrioseptectomy.- - - - - - - - - - ranking = 0.055914796462721keywords = coagulopathy (Clic here for more details about this article) |
8/12. Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin k-dependent blood coagulation factors.Hereditary combined deficiency of the vitamin k-dependent coagulation factors II, VII, IX, X, protein c, S and protein Z (VKCFD) is a very rare autosomal recessive inherited bleeding disorder. The phenotype may result from functional deficiency of either the gamma-glutamyl carboxylase (GGCX) or the vitamin k epoxide reductase (VKOR) complex. We report on the third case of VKCFD1 with mutations in the gamma-glutamyl carboxylase gene, which is remarkable because of compound heterozygosity. Two mutations were identified: a splice site mutation of exon 3 and a point mutation in exon 11, resulting in the replacement of arginine 485 by proline. Screening of 100 unrelated normal chromosomes by restriction fragment length polymorphism and denaturing high-performance liquid chromatography analysis excluded either mutation as a frequent polymorphism. Substitution of vitamin k could only partially normalize the levels of coagulation factors. It is suggested that the missense mutation affects either the propeptide binding site or the vitamin k binding site of GGCX.- - - - - - - - - - ranking = 1.5keywords = coagulation (Clic here for more details about this article) |
9/12. Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency.Hereditary combined vitamin k-dependent (VKD) coagulation factor deficiency is an autosomal recessive bleeding disorder associated with defects in either the gamma-carboxylase, which carboxylates VKD proteins to render them active, or the vitamin k epoxide reductase (VKORC1), which supplies the reduced vitamin k cofactor required for carboxylation. Such deficiencies are rare, and we report the fourth case resulting from mutations in the carboxylase gene, identified in a Tunisian girl who exhibited impaired function in hemostatic VKD factors that was not restored by vitamin k administration. sequence analysis of the proposita did not identify any mutations in the VKORC1 gene but, remarkably, revealed 3 heterozygous mutations in the carboxylase gene that caused the substitutions Asp31Asn, Trp157Arg, and Thr591Lys. None of these mutations have previously been reported. family analysis showed that Asp31Asn and Thr591Lys were coallelic and maternally transmitted while Trp157Arg was transmitted by the father, and a genomic screen of 100 healthy individuals ruled out frequent polymorphisms. Mutational analysis indicated wild-type activity for the Asp31Asn carboxylase. In contrast, the respective Trp157Arg and Thr591Lys activities were 8% and 0% that of wild-type carboxylase, and their compound heterozygosity can therefore account for functional VKD factor deficiency. The implications for carboxylase mechanism are discussed.- - - - - - - - - - ranking = 1.25keywords = coagulation (Clic here for more details about this article) |
10/12. Valproate-associated coagulopathies are frequent and variable in children.PURPOSE: valproic acid (VPA) is an antiepileptic drug (AED) commonly used for generalized and focal epilepsies. The clinical relevance of coagulopathies, known as side effects of VPA therapy, especially thrombocytopenia, von Willebrand disease, and a decrease of factor xiii, is still unclear. methods: In our institute, we noticed a high incidence of clinically relevant coagulation problems related to VPA in eight patients within 1 year only and a further seven children with significant coagulopathy were identified in the context of planned surgery. RESULTS: We provide an overview of these patients and all six VPA-induced coagulopathies. CONCLUSIONS: At this time, it cannot be recommended to control all hemostatic parameters in every patient. Whenever an increased bleeding tendency is observed, or before surgical procedures, a platelet count, thrombelastography, prothrombin time, activated partial thromboplastin time, TT, fibrinogen, von willebrand factor, and factor xiii should be examined. With 385 VPA-treated patients per year and 15 cases of coagulation disorders in this period, we estimate the incidence of coagulation disorders related to VPA in children to be nearly 4%.- - - - - - - - - - ranking = 0.76118295929254keywords = coagulation, coagulopathy (Clic here for more details about this article) |
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