EARLY CLINICAL MANIFESTATIONS IN PATIENTS DIAGNOSED WITH HUNTER SYNDROME: DATA FROM THE HUNTER OUTCOME SURVEY
Bibliographic record
Abstract
Background and Aims: Hunter syndrome (mucopolysaccharidosis type II) is a rare, progressive, X-linked disorder caused by deficiency of the enzyme iduronate-2-sulphatase. The Hunter Outcome Survey (HOS) is a global survey of patients with Hunter syndrome designed to enhance our understanding of the natural history of the disease and to monitor the safety and efficacy of enzyme replacement therapy. Patients and Methods: Analysis of the HOS database was carried out to examine the clinical features of patients who were diagnosed with Hunter syndrome. As of January 2008, there were 367 prospective patients (defined as “alive” upon entry) enrolled in HOS. Results: Among the 367 patients within HOS, the earliest clinical manifestations were hernia (1.8 years), otitis media (1.9 years) and nasal obstruction (2.7 years). Facial features of Hunter syndrome, enlarged liver/spleen and enlarged tonsils/adenoids were observed at median ages of 2.9, 3.3 and 3.4 years, respectively. The median age at diagnosis was 3.5 years (10th–90th percentile, 1.2–6.8 years). The most common clinical symptoms were characteristic facial features (91%), enlarged spleen/liver (84%), joint stiffness (82%), hernia (76%), otitis media (72%), enlarged tongue (70%), enlarged tonsils/adenoids (67%) and nasal obstruction (32%). Conclusions: At approximately 2 years of age, 50% of children with Hunter syndrome already experience hernias and/or otitis media, although this analysis also reveals that the diagnosis is not made until 3.5 years on average. Increased awareness of these early symptoms may aid diagnosis and allow prompt therapeutic intervention in order to halt or slow the natural progression in patients with Hunter syndrome.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| 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".