Skeletal complications in the course of neurofibromatosis in children
Bibliographic record
Abstract
Introduction Type 1 neurofibromatosis (NF1) belongs to the group of phacomatoses characterised by the formation of neurofibromas in the course of the nerves. In some cases, it may also lead to lesser known skeletal symptoms such as disturbances in calcium-phosphate metabolism and decreased bone mineral density. Aim of the study The purpose of this work is to analyse possible skeletal complications in the course of neurofibromatosis, based on presentation of patients with NF1. Material and methods The study included 10 children diagnosed with NF1 (seven girls and three boys), aged four to 17 years. Medical examinations including evaluation of any motor system abnormalities, anthropometric measurements of body height and weight (to evaluate the respective parameters, centile charts were used from the OLAF project), and bone densitometry using dual-energy X-ray absorptiometry (DXA) were performed. Calcium and phosphate metabolisms were assessed based on laboratory tests (concentration of vitamin D – 25(OH)D, parathormone and alkaline phosphatase levels, and bone turnover markers). Results Decreased body height was found in half of the patients (5/10). Typical dysplastic bone lesions were observed in 3/10 children. On densitometry, in nine out of 10 examined children a Z-score decrease to < –1.0 was observed, and in five children this value was ≤ –2.0. Decreased 25(OH)D concentration was found in 7/10 examined children. In three out of 10 patients the osteocalcin level was increased. Conclusions NF1 may jeopardise normal development and function of the skeletal system in children – both of the mineral and bone metabolism. Assessment of the motor system and of the calcium and phosphate metabolism should be part of extended diagnosis and monitoring of this disease. Risk factors for bone fractures in children with NF1 are low bone mass and decreased vitamin D concentration.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
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".