Liver Adenomatosis and Maturity-Onset Diabetes of the Young (MODY) Type 3 Due to HNF1A Mutation Not Previously Described
Bibliographic record
Abstract
The term MODY (maturity-onset diabetes of the young) is allocated for a heterogeneous subgroup of different diseases, characterized by its autosomal dominant inheritance, with high penetrance and early expression in childhood and early youth. They are due to genetic defects in factors involved in the formation and function of pancreatic beta cells. MODY 3 diabetes is the most common in adults. Liver adenomatosis is a rare disease. Diagnosis requires the presence of more than ten adenomas in a healthy parenchyma, the absence of liver storage diseases, and nor prior steroid treatment. In 2002 Bluteau and colleagues find a common genetic defect for both pathologies, HNF1A gene’s mutation. So far just five unrelated families with liver adenomatosis and MODY 3 diabetes due to HNF1A mutation have been reported. To our knowledge only four cases suffering from both pathologies under the age of 18 have been previously reported, and the mutation detected in all of them is P291fs in exon 4 of HNF1A gene. We present the case of a teenager with liver adenomatosis and MODY 3 diabetes, carrying a not previously described HNF1A gene’s mutation. J Endocrinol Metab. 2014;4(3):81-85 doi: http://dx.doi.org/10.14740/jem218w
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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 | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".