Modern Aspects of Anticoagulation System Disorders Diagnosis in Children with Different Polymorphisms in Coagulation Genes. Initial Results
Bibliographic record
Abstract
Background. Hemostatic system pathology is topical and poorly studied issue in pediatrics. One of the main causes of coagulation pathway disorders associated with thrombotic events is abnormality in various parts of the hemostatic system. Vascular accidents are commonly caused by anticoagulation system factors deficiency. Conventionally, thrombosis is a common event in adult patients, and there is no adequate attention to disorders of primary physiological anticoagulants system in children. More often acquired anticoagulant proteins deficiency develops in presence of various pathological conditions, especially after the past infectious diseases. All these diseases (thrombophilia, trombotic events, cardiovascular pathology, nervous system diseases, genetic diseases) can occur separately and in association with each other, plus clinical picture of coagulation events may be similar. Objective. The aim of the study is to evaluate changes in the physiological anticoagulants system in children with different pathologies who have polymorphic variants in coagulation genes and who had new coronavirus infection. Methods. The study included 33 children who had severe coronavirus infection in family clusters and had severe chronic pathology potentially associated with disorders of the coagulation system (nervous system damage, hypertrophic cardiomyopathy, hereditary monogenic syndromes, hemato-mesenchymal dysplasia syndrome). All children underwent complete examination including clinical examination, laboratory, and instrumental diagnostics. Results. Preliminary study results indicate significant incidence of polymorphic variants in coagulation genes (one third of children with various diseases from the study). Some children had decreased activity of anticoagulation system glycoproteins (from 6% to 36%) that confirmed the topicality of the examination of anticoagulation system factors deficiency and the need for further dynamic follow-up, as well as revealing of trombophilia predictors in children in selected target groups. Study on revealing anticoagulation system disorders and mutations in coagulation genes will predict the risk of thrombotic disorders. Conclusion. The obtained results have confirmed the significant role of the ongoing study for comprehensive assessment of hemostatic system disorders in children. That will allow us to optimize the approach to diagnosis and personalize the management strategy for patients with different chronic pathologies and disorders of the natural anticoagulants system. The study is currently ongoing.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".