THROMBOCYTOPENIA WITH ABSENT RADII: Frequency of Marrow Megakarycyte Progenitors, Proliferative Characteristics, and Megakaryocyte Growth and Development Factor Responsiveness
Bibliographic record
Abstract
Congenital thrombocytopenia with absent radii (TAR syndrome) is characterized by defective thrombopoiesis and bleeding in early infancy. To determine the frequency and responsiveness to cytokines of megakaryocyte progenitors (CFU-Meg) in TAR syndrome, the authors studied marrow samples from 3 patients and 6 normal controls, using optimally standardized megakaryocyte growth media incorporating interleukin-3, interleukin-6, stem cell factor, and granulocyte-monocyte colony-stimulating factor, with and without pegylated recombinant human megakaryocyte growth and development factor (PEG-rHuMGDF). CFU-Meg was identified with a specific staining system utilizing monoclonal antibodies to glycoprotein IIb/IIIa. Growth of small CFU-Meg colonies (3-20 cells/colony) was observed in all patients in cultures without PEG-rHuMGDF, with a mean frequency of 8 (range 5-12) per 2.25 x 10(5) mononuclear cells plated (control mean 23; range 2-70). Identical cultures of marrow cells from patients and controls with added PEG-rHuMGDF produced more colonies per dish (mean 17, range 8-23; control mean 30, range 6-62). Except for 1 case, however, patients' colonies in response to PEG-rHuMGDF remained smaller than those of controls. Two patients tested had higher plasma thrombopoietin levels than 6 normal subjects. The findings demonstrate proliferative and PEG-rHuMGDF-responsive megakaryocytic progenitors in TAR syndrome. The modest reduction in frequency of megakaryocyte progenitors and the suboptimal size of colonies in response to PEG-rHuMGDF are compatible with the reported defective signal transduction in the c-mpl pathway in TAR syndrome.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".