Hereditary haemorrhagic telangiectasia: A case report
Bibliographic record
Abstract
BACKGROUND: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. CASE SUMMARY: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. CONCLUSION: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.
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 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 | 0.001 | 0.002 |
| 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 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.010 | 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".