Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II
Bibliographic record
Abstract
Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency resulting in progressive glycosaminoglycans (GAG) accumulation in tissues (dermatan sulfate and heparan sulfate). GAG accumulation in cells leads to the development of progressive pathological disorders, malfunction of various organs and systems, early disability, and decrease in life expectancy. Enzyme replacement therapy (ERT) reduces the rate of life-threatening conditions development in patient. ERT would be more effective if it is prescribed early, especially at preclinical stage. This is the time when there are no severe irreversible changes in the cell, thus, pathogenetic therapy will decrease GAG accumulation in lysosomes, slow down the pathological process, and improve patient's condition. Clinical case description. Male patient diagnosed with MPS II was administrated with ERT idursulfase beta at the age of 6 months. It led to milder disease course compared to proband uncle who had similar mutation in the IDS gene, severe disease phenotype, and later initiation of ERT (at the age of 2.5 years). Conclusion. Early ERT initiation in patients with MPS II significantly slows down development of severe and life-threatening complications, increases the duration and improves the quality of life.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".