Conference Report : Gene abnormalities may lead to multiple system defects for heart patients
Bibliographic record
Abstract
During the Canadian Cardiovascular Society's recent congress in Vancouver, Dr. Arnold Strauss provided a series of vignettes to demonstrate the role of molecular pathogenesis in congenital heart disease. Strauss, a pediatric cardiologist and molecular biologist at Washington University in St. Louis, used DiGeorge syndrome to indicate how a complex abnormality on chromosome 22q11 produces multiple cardiac abnormalities, including truncus arteriosus, tetralogy of Fallot and pulmonary atresia. This abnormality is also associated with absence of the thymus gland, perturbations in calcium homeostasis and T-cell deficiency. Taken together, these lead to increased susceptibility to infection. Behavioural problems involving psychoses and other psychiatric disturbances occur frequently in patients with this genetic condition. Strauss said these types of diseases are forcing doctors to think more broadly about patients with heart disease. For instance, pediatric cardiologists have traditionally focused on anatomic diagnoses limited to the cardiovascular system. However, the DiGeorge syndrome is associated with multiple system defects that cross medical disciplines, thus requiring flexibility, lateral thought and a more generalized approach to the patient. Another example of this is the phenotype caused by mutations in the TBX5 gene. Affected patients often exhibit atrial septal defect, and there may be associated abnormalities of the tricuspid valve and a ventricular septal defect, as well as developmental skeletal abnormalities. This molecular information may provide an explanation for some cases of sporadic congenital heart disease and may enhance physicians' ability to make diagnoses. Strauss's third example was the beta cardiac myosin heavy-chain abnormality discovered in hypertrophic cardiomyopathy. The theme running through all of these vignettes was Strauss's idea that physicians must begin to think more as developmental biologists and less as technicians who simply focus on anatomic abnormalities of the heart. Indeed, patients with the same apparent anatomic defects may have substantial clinical differences, and the consequences of abnormalities both within and outside the cardiovascular system need to be integrated into their overall care. — Dr. Paul Armstrong, an Edmonton cardiologist, and Dr. Robert Hegele, who cochaired a symposium at the congress, wrote this article; physicians interested in submitting similar reports should contact John Hoey, 800 663-7336 x2118; ac.amc@jyeoh.
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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 | 0.003 | 0.008 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.003 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.007 | 0.007 |
| Insufficient payload (model declined to judge) | 0.038 | 0.011 |
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".