A large cohort of primary familial cryofibrinogenemia originates from the Magdalen Islands
Bibliographic record
Abstract
Background Cryofibrinogenemia is a rare disorder that refers to the presence of cold-precipitable proteins in plasma but, unlike cryoglobulinemia, not in serum. It can manifest as vascular occlusion in cold exposed areas. It is most often secondary to various inflammatory disorders, infections or malignancy, but cases of true essential cryofibrinogenemia have been described. To the best of our knowledge only three reports involving families have been published to date, each involving at most three patients. Our cases Two apparently unrelated patients presented with painful lesions involving cold-exposed areas that would appear every fall and disappear every spring since childhood. Examination revealed ulcers, livedoid and purple-blue discolorations with crusts and scar tissues involving ears, hips, knees, fingers and toes. Immune and inflammatory workup was unremarkable in both patients except for the presence of cryofibrinogen. Treatment with stanozol and dextran was attempted but symptoms returned during winter season. As both patients reported kindred with similar symptoms, population register was consulted. Patients were found to have common ancestors originating from the Magdalen islands. Furthermore, 24 more individuals from the same family were found to present similar symptoms upon cold exposure, making this the largest cohort of familial cryofibrinogenemia described to date (figure 1). Transmission appeared to follow a dominant pattern with variable penetrance.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".