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"Genetic testing for thrombophilic gene mutations is evaluated using a variety of methods of real-time polymerase chain reaction and DNA microarrays of specific genes. " The primary aim of this narrative review was to quantitatively assess the literature on the specific care of pregnant women with thrombophilia who are at risk of experiencing unplanned miscarriages.
Source link: https://doi.org/10.3390/medicina58050692
"The percentage of institutions that measured both antigens and AT, PC, and PS activity for the diagnosis of thrombophilia was 52%, but 46 percent of hospitals did not perform gene analysis. " Prophylactic anticoagulation therapy was used in the ante- and postpartum management of patients with AT deficiency at 63% and 63. 3 percent of hospitals, the most commonly with 10,000 units of unfractionated heparin. If complete answers were given, the number of pregnancies with AT, PC, and PS deficiency may have risen to 29, 23, and 151 every year in Japan.
Source link: https://doi.org/10.1007/s12185-022-03354-4
"We have found two new SERPINC1 variants, p. Glu227Lys and p. Asn224His, in four unrelated thrombophilic patients with early and recurrent thrombosis with normal antithrombin activity. " In one case, the mutation was identified by whole genome sequencing, in the three remaining cases, the mutation was discovered by sequencing SERPINC1, based on a single functional positive finding supporting deficiency. Carriers had normal anti-FXA or anti-FIIa operations, but anti-FVIIa activity and a discernible lack of inhibitory function when incubating the plasma 1 hour at 41 u00bbaC. Mutation experiments revealed the importance that Lysine residues close to the N-glycosylation sequon play in debating N-glycosylation's effectiveness, which contributed to the nefariousness of N-glycosylation. According to our findings, new elements involved in the regulation of N-glycosylation have been identified in the translational change that, according to our results, affects folding, secrecy, and function, giving new evidence of the pathogenic consequences of an incorrect N-glycosylation of antithrombin.
Source link: https://doi.org/10.1182/blood.2021014708
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