Brittle bones, fragile heart- a rare case report of osteogenesis imperfecta and mitral valve insufficiency with tragic outcome
Bibliographic record
Abstract
Osteogenesis Imperfecta is a rare disease of the connective tissue resulting in bone and tissue fragility. It is characterized by bone fragility, decreased bone mass, and frequent fractures. The range of phenotypic expression varies greatly, spanning from prenatal fractures resulting in fatal outcomes to milder presentations characterized by few fractures and typical stature. According to the Sillence classification that is based on clinical and radiological characteristics along with mode of inheritance it can be classified into 4 types. In this study, we report a 32 year old female with osteogenesis imperfecta who underwent mitral valve replacement. She was a known case of severe mitral valve incompetence secondary to Osteogenesis Imperfecta. She presented with shortness of breath, NYHA class 3 symptoms, and a history of unsuccessful previous percutaneous mitral valve repair. She underwent open mitral valve replacement with tissue valve owing to her risk of bleeding with anticoagulation. Unfortunately, despite meticulous surgical technique, the patient experienced post-operative complications that ultimately led to her demise.
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 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 | 0.000 |
| 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".