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At least 109 records · Page 6Linked to original sources
PubMed2001

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.

Adult↗
PubMed2001

Three new cases of dysfibrinogenemia: Poissy III, Saint-Germain I and Tahiti.

In order to identify unknown mutations, the FAMA method was used to rapidly screen the fibrinogen chain genes in individuals with dysfibrinogenemias. Chemical cleavage at mismatches on heteroduplexes DNA end-labeled with strand-specific fluorescent dyes reliably detects sequence changes in DNA fragments of up to 1.5 kb and locates them precisely. This method was successfully used for the detection of three new dysfibrinogenemias: Poissy III, Tahiti (heterozygous Aalpha Arg16His) and Saint-Germain I (heterozygous AalphaGly12Val). The mutations were confirmed by dideoxy sequencing.

Adult↗
PubMed2002

Fresh frozen plasma in the pediatric age group and in congenital coagulation factor deficiency.

Generally, the rules of good practice in transfusion medicine apply also to the pediatric age group. However, the frequency of specific diseases that might necessitate the administration of fresh frozen plasma (FFP) differs from that in adults. Physiologic differences to the later age exist in the neonatal period and in young infants, especially with respect to the hemostatic system, that must be recognized when considering administration of FFP. The plasma levels of many procoagulant factors and important anticoagulants are lower in neonates than in other age groups. Despite these findings, healthy neonates show no easy bruising, no increased bleeding during surgery, and excellent wound healing. The same discrepancy obtains between in vitro and clinical findings with primary hemostasis in neonates. The good primary hemostasis in neonates despite poor in vitro platelet function seems to be due mainly to a very high von Willebrand factor and the presence of more high-multimeric subunits of von Willebrand factor than later in life. We must assume that these particular plasma levels of procoagulant and anticoagulant proteins are essential for the correct function of neonatal hemostasis. Evidence that the hemostatic system of neonates works best with physiologic concentrations of procoagulants and anticoagulants can also be inferred from studies where the administration of clotting factor concentrates gave poor results.Since healthy neonates and young infants have excellent hemostasis, there is absolutely no indication to 'correct' these values to adult's norms prior to invasive procedures by administering FFP. Indications for FFP, met more frequently in the pediatric age group than later in life, are exchange transfusion and extracorporeal membrane oxygenation. Indications applying equally to adults are other extracorporeal life support systems, disseminated intravascular coagulation, hepatic coagulopathy, and 'complex unclear coagulopathies'. In congenital clotting factor deficiency, replacement therapy is much more easily administered using a highly specific concentrate. When FFP is used to raise the level of the congenitally deficient factor, the huge volume needed to reach sufficiently high plasma levels can frequently be a major problem. For this reason, FFP as a replacement therapy in congenital factor deficiency is only indicated when no specific concentrate is available, as is the case in factor V deficiency and factor XI deficiency.

Blood Component Transfusion↗
PubMed1999

Rational, high quality laboratory monitoring before, during, and after infusion of prothrombin complex concentrates.

Prothrombin complex concentrates (PCCs) have been used for over thirty years to treat or prevent bleeding due to hemophilia B, vitamin K deficiency, warfarin overdose, liver disease, or deficiency of one of the prothrombin complex factors. This article tries to answer the questions of which profile of laboratory assays is required for the establishment of the diagnosis; what are indications of replacement therapy with PCCs; how to monitor the therapeutic effect; and how to monitor a possible prethrombotic state after PCC infusion. After proposing basic, standard, and optimal profiles of hemostaseological assays, the basic principal characteristics of a quality management satisfying the requirements of good laboratory practice are discussed.

Blood Coagulation Factors↗
PubMed2002

Hematologic emergencies in the pediatric emergency room.

The complete blood count (CBC) describes the three hematopoietic lineages (i.e., the erythrocytes, leukocytes, and platelets), and it is an essential diagnostic component in numerous clinical situations. The pediatric CBC and hematologic problems in children may significantly differ from that of adults. In this article, special features of pediatric hematologic emergencies are highlighted.

Adolescent↗
PubMed2001

[Meningococcal purpura fulminans: untoward result of genetic polymorphism?].

Despite significant progress in intensive care medicine, the mortality of septic shock has not changed in recent years. Early recognition of subtle signs in favor of meningococcal sepsis, early antibiotic treatment, and aggressive hemodynamic support remains the cornerstone of therapy of severe meningococcal shock in children. Recent work has emphasized the role of genetic polymorphisms in various systems to explain the most severe cases: anti-inflammatory cytokine profile IL-10/TNF-alpha, elevated levels of plasminogen activator inhibitor type-1, variants of the gene for mannose-binding lectin complement pathway. This may explain the disillusionment of pediatric intensivists, and the general failure of immunotherapy for sepsis. Reasonable hope lies upon new meningococcal vaccines.

Child↗
PubMed2001

Inherited complete factor I deficiency associated with systemic lupus erythematosus, higher susceptibility to infection and low levels of factor H.

Here we describe two new cases of complete deficiency of factor I (fI) in two sisters from a consanguineous Brazilian family. The eldest sibling (20-year-old) developed systemic lupus erythematosus (SLE) early during childhood while the youngest had been committed on several occasions owing to repeated infections although she was asymptomatic for auto-immune diseases. We also detected lower concentrations of C3 and factor B in both sisters. Biological functions dependent on complement activation such as the production of opsonins and killing of phagocytozed micro-organisms, chemotactic factors and haemolytic activity were all significantly reduced in both probands. Consistent with the absence of fI and low levels of fH, a deregulated production of C3b was observed by bidimensional electrophoresis in sera of both the probands.

Adult↗
PubMed2001

Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA.

An 8-year-old son (L.A.S.) of consanguineous parents, presented recurrent bacterial infections, vasculitis and extremely low levels of serum C3 (0.15 microg/ml). The classical and alternative pathway haemolytic activities and the generation of opsonins and chemotactic factors derived from the activation of the complement system were markedly affected in the proband's serum. An in vitro addition of purified C3 restored the classical pathway-dependent haemolytic activity of his serum. Autoradiographs of the proband's lipopolysaccharide (LPS)-stimulated and 35S-labelled fibroblast supernatants after that the SDS-PAGE revealed no C3 alpha or beta chains. The amount of C3 mRNA synthesized by the proband's fibroblasts, as evaluated by reverse transcription-polymerase chain reaction (RT-PCR) assays, was greatly reduced.

Cell Migration Inhibition↗
PubMed2003

Batroxobin-induced clots exhibit delayed and reduced platelet contractile force in some patients with clotting factor deficiencies.

Thrombin causes platelet activation via multiple pathways, and deficient thrombin generation reduces platelet contractile force (PCF) during clot retraction. We hypothesized that PCF in blood samples from clotting factor-deficient patients would be diminished due to delayed or deficient thrombin generation. Blood samples from patients with fibrinogen, and factor V, VII, VIII, IX, X, XI and XIII deficiencies were compared to samples from normal controls. PCF in patient blood clotted with thrombin (1 NIH UmL(-1)) was compared to PCF in clots formed with batroxobin (0.25 micro g mL(-1)). PCF in the former should be normal, but PCF in the latter is dependent on thrombin generation within the sample and might be deficient. In factor VII-(n = 2, P < 0.05), factor VIII-(n = 6, P < 0.005) and factor XI-(n = 2, P < 0.05) deficient platelet-rich plasmas, PCF in batroxobin-induced clots was significantly lower than in thrombin-induced clots. In factor IX deficiency (n = 2), one patient had a dramatic reduction in PCF while a second patient had increased PCF. PCF was insignificantly (P = 0.346) reduced in two patients with factor X deficiency, and was normal in one patient with factor V deficiency. The factor X result is consistent with work in model systems, which indicates that as little as 1-3% factor X activity is sufficient to restore thrombin generation to normal. The factor V result probably indicates that the deficiency is incomplete. PCF in thrombin-induced clots was normal in all of these patients. Low fibrinogen and factor XIII deficiency reduced PCF in both thrombin- and batroxobin-induced clots. These results indicate that PCF is reduced, probably due to delayed thrombin generation, in some factor-deficient platelet-rich plasma samples.

Batroxobin↗
PubMed2003

Hypofibrinogenemia caused by a nonsense mutation in the fibrinogen Bbeta chain gene.

Congenital hypofibrinogenemia, fibrinogen Tottori II, caused by a nonsense mutation in the fibrinogen Bbeta chain gene, was found in a 68-year-old Japanese female. The plasma fibrinogen level was 99.2 mg dL(-1) as determined by the thrombin time method. No overt molecular abnormalities were observed in purified patient fibrinogen by SDS-PAGE analysis. After sequencing all exons and exon-intron boundaries of three fibrinogen genes, we found a heterozygous single point mutation of T-->G at position 3356 of the patient fibrinogen Bbeta chain gene. This nucleotide mutation results in a nonsense mutation (TAT sequence for Bbeta 41Tyr to TAG sequence for a translation termination signal). The mutation was confirmed by polymerase chain reaction-restriction fragment length polymorphism analysis, since this nucleotide mutation results in a new NheI recognition sequence at this position. These data indicated that the nonsense mutation of the fibrinogen Bbeta chain gene caused a truncated fibrinogen Bbeta chain, which may not be assembled in the fibrinogen molecule.

Aged↗
PubMed2002

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.

Adolescent↗
PubMed2003

Coagulation factor deficiencies and pregnancy loss.

Of all the coagulation factor deficiencies, only deficiency of factor XIII (FXIII) and fibrinogen are associated with pregnancy loss. FXIII deficiency and a complete or partial deficiency of fibrinogen are associated with bleeding since childhood, impaired wound repair, and recurrent spontaneous abortions. Both FXIII and fibrinogen play an essential role in placental implantation and maintenance of pregnancy. The causes of miscarriages in FXIII or fibrinogen-deficient women is discussed and an appropriate treatment advocated.

Abortion, Spontaneous↗