Musculoskeletal impairment in adults with neurofibromatosis type 1: an observational study from Southern Italy
Bibliographic record
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting 1 in 3000 live births. The musculoskeletal system in adult NF1 patients has not been extensively studied. This observational study aimed to characterize musculoskeletal impairment in a cohort of adult NF1 patients. We collected anthropometric data, and data on level of physical activity (PA), muscle strength, muscle performance, bone mineral density, and perceived physical and mental health. The cohort was subdivided according to the patients’ level of PA (defined as inactive, sufficiently active, active/very active), and outcomes were compared between the three groups. Eighty-three patients (37 M; 46 F) affected by NF1 were recruited. Seventeen (20.5%) were inactive (Group 0), 38 (45.8%) were sufficiently active (Group 1), and 28 (33.7%) were active or very active (Group 2). When comparing the three groups, statistically significant differences were found between Group 0 and Group 2 (p < 0.05) on the three sub-items of the Short Physical Performance Battery. Thirty patients completed the densitometric bone evaluation, which showed osteopenia in 7 patients (23.3%), and osteoporosis/reduced values for sex and age in 4 (13.3%). No statistically significant differences in densitometric findings were found between the three groups (p > 0.05). This study provides a musculoskeletal characterization of a cohort of adult NF1 patients from southern Italy. Muscle strength was lower compared with that of the general population, and bone strength was compromised in one-third of our cohort. Physical activity might help to preserve bone health in NF1 patients. Future research should address the long-term effects of PA on bone strength in this population. KEY WORDS: Neurofibromatosis type 1, physical activity, skeletal muscle, bone mineral density.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 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".