Etiology and Morphogenesis of Congenital Heart Disease
Bibliographic record
Abstract
Conotruncal anomaly face syndrome was first reported by Kinouchi and Takao in 1976.In the early 1970s, Dr. Takao began to recognize a characteristic facial appearance with a flat nasal bridge, small mouth, nasal voice, high arched palate, and ear lobe abnormalities, along with mental retardation among patients with conotruncal anomalies, mainly tetralogy of Fallot.He named this combination "conotruncal anomaly face syndrome."Soon, he recognized the importance of molecular biology in clarifying the etiology and mechanisms of this syndrome.In the early 1980s, the molecular biology laboratory was established in his department.Microdeletion of chromosome 22q11.2was confirmed also in conotruncal anomaly face syndrome.Although Dr. Takao realized the importance of molecular biology in the late 1970s, it was not until after he retired in 1990, that he began to study molecular biology techniques.In 1990, he set up the International Molecular Cellular Immunological Research Center.He worked as the director of the Institute until 2006.In 2003, investigators of the Institute, including Atsuyoshi Takao and Rumiko Matsuoka, published a paper suggesting that the TBX1 mutation was responsible for conotruncal anomaly face syndrome.It is amazing that so much progress has been accomplished since the first Takao symposium, with path-breaking changes occurring in fields ranging from experimental teratology to regenerative medicine.As we understand more about the detailed molecular mechanisms underlying cardiac malformation, we begin to see some hope of manipulating these mechanisms to treat congenital heart disease, as noted by Dr. Markwald in his chapter in this book.Recent progress in cardiac regenerative medicine by using progenitor cells is largely based on the knowledge obtained from research on the etiology and morphogenesis of congenital heart disease.Basic researchers and cardiologists who have been working in this field should be proud that they have contributed so significantly, in the past nearly 40 years, to this valuable progress.I hope this book sheds light on the direction in which we should proceed in the research field in the next 5 years, to ultimately save the lives of those who suffer from congenital and acquired heart diseases.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 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".