Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia
Bibliographic record
Abstract
Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive microangiopathic disorder caused by inherited mutations in the ADAMTS13 gene. cTTP treatment involves infusing ADAMTS13-rich blood products like fresh frozen plasma (FFP) to replenish levels and prevent disease relapses. Alternative therapies like recombinant ADAMTS13, plasma-derived Factor VIII, or caplacizumab may be used for patients unable to tolerate FFP. We present a case of a five-month-old girl who had recurrent episodes of anemia and thrombocytopenia. She was diagnosed with cTTP based on the presence of low ADAMTS13 activity and the identification of a homozygous likely pathogenic variant in the ADAMTS13 gene. After receiving regular transfusions of FFP, our patient improved significantly and has been asymptomatic for 18 months with no transfusion complications.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".