Mucopolysaccharidosis Type <scp>IIIB</scp> With Pancytopenia: A Case Report and Hematological Correlations in Mice
Bibliographic record
Abstract
ABSTRACT Mucopolysaccharidosis type IIIB (MPS IIIB), also called Sanfilippo syndrome B, is a lysosomal storage disease caused by abnormal degradation of heparan sulfate. It is characterized by progressive neurological deterioration with developmental regression and behavioral abnormalities. Additional clinical manifestations can include musculoskeletal anomalies, hearing loss, respiratory tract anomalies, and cardiovascular disease. Here, we report a second individual with MPS IIIB and chronic pancytopenia. To support our hypothesis of a pathophysiological relationship between these clinical findings, we performed hematological studies in MPS IIIB Naglu−/− mice, which revealed a microcytic anemia as well as a decreased monocyte count, without thrombocytopenia. Hematological findings are thought to be secondary to MPS IIIB even though the exact pathophysiological mechanism remains to be determined. Although it likely represents an uncommon clinical feature, we suggest that complete blood count should be considered as part of the clinical surveillance for individuals with MPS IIIB.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 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) | 0.000 | 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".