SEVERE BLEEDING ASSOCIATED WITH DEFECTIVE THROMBOXANE SYNTHETASE

@article{Mestel1980SEVEREBA,
  title={SEVERE BLEEDING ASSOCIATED WITH DEFECTIVE THROMBOXANE SYNTHETASE},
  author={F. Mestel and Oskar H. Oetliker and E. A. Beck and Rayssa Morais Felix and Paul A Imbach and Hans Peter Wagner},
  journal={The Lancet},
  year={1980},
  volume={315}
}

Topics from this paper

Congenital Platelet Dysfunction and von Willebrand Disease
Genetic classification and confirmation of inherited platelet disorders: current status in Korea
  • Y. Shim
  • Medicine
    Korean journal of pediatrics
  • 2019
TLDR
Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed.
Inherited Disorders of Platelet Function
TLDR
The diagnostic laboratory assessment appropriate for the evaluation of suspected inherited defects of platelet function should be based on a two-step diagnostic strategy: in the first step, screening tests that essentially based on the Evaluation of the ability of platelets to aggregate and secrete the contents of their cytoplasmic granules help raising a diagnostic hypothesis.
Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction.
  • A. Rao
  • Medicine
    Hematology/oncology clinics of North America
  • 2013
TLDR
Management of patients with inherited disorders of platelet function needs to be individualized; therapeutic options include platelet transfusions, 1-desamino-8d-arginine vasopressin (DDAVP), recombinant factor VIIa, and antifibrinolytic agents.
p 45 NF-E 2 regulates expression of thromboxane synthase in megakaryocytes 1991
1991; Caterina et al., 1994a; Lu et al., 1994; Kotkow and Sophie Deveaux, Sylvia Cohen-Kaminsky1, Orkin, 1995) genes. Purification of NF-E2 revealed that Ramesh A.Shivdasani1,2, Nancy C.Andrews3, it
The effect of an exon 12 polymorphism of the human thromboxane synthase (CYP5A1) gene in stroke patients.
TLDR
Allele mutations can abolish the enzymatic activity of thromboxane synthase, via impaired heme binding, associated with defective response to Aspirin used as secondary prevention, an effect independent from the conventional risk factors for cerebrovascular disease.
Disorders of Megakaryocytes and Platelets
TLDR
Reactive megakaryocytosis is an inherited autosomal dominant disorder caused by mutations within the genes encoding TPO or c-Mpl (TPO receptor) genes and has been associated with prolonged administration of prednisone, estrogens, interferon, and chlorothiazide.
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
TLDR
Platelets from subjects with GHDD showed a specific deficit in arachidonic acid–produced aggregation, and TXAS and TXA2 modulated expression of TNFSF11 and TNFRSF11B (encoding RANKL and osteoprotegerin (OPG), respectively) in primary cultured osteoblasts.
...
1
2
3
4
5
...

References

SHOWING 1-8 OF 8 REFERENCES
Exorphins: peptides with opioid activity isolated from wheat gluten, and their possible role in the etiology of schizophrenia
Endogenous opioid peptides, the endorphins (including enkephalin) are extremely potent substances which exert their effect at concentrations in the nanomolar range (Hughes et al., 1975; Lord et al.,
Immunologic reaction of psychotic patients to fractions of gluten.
TLDR
It is speculated that gluten may be involved in biological processes in the brain in certain psychotic individuals.
Inherited defective platelet aggregation with arachidonate as the main expression of a defective metabolism of arachidonic acid.
TLDR
The results indicate that the metabolites of arachidonate cannot be directly involved in the transmission of stimuli causing platelet aggregation, at least not under all conditions.
Impairment of Platelet Thromboxane A2 Generation and of the Platelet Release Reaction in Two Patients with Congenital Deficiency of Platelet Cyclo‐oxygenase
TLDR
Two cases of thrombocytopathia with congenital deficiency of platelet cyclo‐oxygenase were investigated and the platelet release reaction was impaired, and thrombin decreased the cyclic AMP content of patients' platelets and also that of control platelets pretreated with aspirin.
Kinetic studies on the conversion of prostaglandin endoperoxide PGH2 by thromboxane synthase.
TLDR
The data suggest that a bimolecular reaction is involved in the formation of throm boxane A2 from prostaglandin H2 and that thromboxane synthase is not an isomerase, but may be acting via a dismutase-type reaction.
Differential separation of thromboxanes from prostaglandins by one and two-dimensional thin layer chromatography.
TLDR
Two dimensional TLC procedures suitable for complete resolution of mixtures of these compounds on a single plate were developed and were used to demonstrate conversion of [1-14C]-arachidonic acid to thromboxane B2 and prostaglandin E2 by human lung fibroblasts in tissue culture.
Physiological role of an endoperoxide in human platelets: hemostatic defect due to platelet cyclo-oxygenase deficiency.
TLDR
It is concluded that the endoperoxide (PGG2) is essential in normal hemostasis because of its role in initiating the release reaction required for aggregation by collagen and the second wave of aggregation caused by, e.g., ADP.