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Thrombophilia - Wiley Online Library

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Last Updated: 04 February 2022

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Unusual pattern of thrombotic events in young adult non‐critically ill patients with COVID‐19 may result from an undiagnosed inherited and acquired form of thrombophilia

Patients with coronavirus disease 2019 –related issues, risk factors for thrombosis, coagulation, and inflammatory parameters were compared in 145 normally healthy non-critically ill young adults, with 29 patients describing unusual thrombotic events and 116 not having thrombotic events while 116 were not. Patients with UTEs were markedly higher in patients with inflammatory indices, coagulation, and prothrombotic platelet phenotype compared to those without. The non-TG and TG subcohort's patients with UTEs were categorized by thrombophilic genes, coagulation, and inflammatory markers. Among the TGs, a 55% prevalence of coagulation factor II, thrombin vs. VB617F, protein, and antithrombin III deficiency were found in the TG subset versus non-TG subcohorts, with a high incidence of venous UTEs, multiple vessels thrombosis, and recurrence rate.

Source link: https://onlinelibrary.wiley.com/doi/10.1111/bjh.17986


Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia

In at least one sample, we've reviewed 444 consecutive, unrelated cases, from 1998 to 2021, with functional findings pointing to antithrombin deficiency. In at least two samples, plasma antithrombin was tested by functional and biochemical techniques. Sequence and MPLA analyses of the SERPINC1 gene were determined by sequencing and MPLA. A constitutive deficiency deficiency, a SERPINC1, or Nglycosylation defect was found in 260 of the 305 cases with constitutive deficiency, a Nglycosylation defect, although 45 others were unidentified, although 45 others were unidentified. In at least one sample, the other 139 cases had normal antithrombin activity, which we described as transient deficiency. In transient deficiency, symptoms of Thrombotic disorders were more common, but lateronset, they were less prevalent, and had a greater proportion of arterial events than in constitutive deficiency. Our analysis shows a molecular abnormality in a significant percentage of cases with transient antithrombin deficiency and shifts the paradigm of thrombophilia, as the pathogenic effect of certain mutations may vary depending on external causes and be present only at certain timepoints.

Source link: https://onlinelibrary.wiley.com/doi/10.1002/ajh.26413

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions