Effects of Neurofibromatosis Type 1 on Pseudoarthrosis and the Forensic Implications
Bibliographic record
Abstract
Pseudoarthrosis is the presentation of false joints or non-union, primarily in long bones. While pseudoarthrosis most often presents as the lack of union between parts of a fractured or broken bone, it is also suspected that pseudoarthrosis results from a congenital disorder of unknown origin. While the etiology is unclear, there is an association with a congenital defect in neurofibromatosis type 1 gene through the neurofibromin protein. This defect occurs during the germ line mutation of conception and is often identified during early childhood. Pseudoarthrosis is more often difficult to detect in adults as it is frequently corrected during childhood. Germ line defects along the neurofibromin protein often result in a lack of communication from the reticular activating system (RAS) molecular signaling, which, in turn, impacts skeletal osteon production. Consequently, osseous lesions may develop and lead to a lack of cellular control over osteoblast signaling in the long bones of the skeleton. Understanding the origins of congenital pseudoarthrosis and its relationship with neurofibromatosis type 1 could lead to a better understanding of both conditions. Understanding these conditions can be useful for interpreting forensic contexts. These contexts include having the histological knowledge of osteology in these diseases for identification purposes. Given that both neurofibromatosis type 1 and pseudoarthrosis are uncommon conditions, their presence may aid forensic practitioners in determining cause of death or identification of the individual. This paper reviews new advances towards understanding the root cause of pseudoarthrosis.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".