DISEASE OF THE MONTH Congenital Nephrogenic Diabetes Insipidus
Bibliographic record
Abstract
Congenital nephrogenic diabetes insipidus (NDI) is a rare disorder of the kidney characterized by the failure to concen-trate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin (AVP). The identifica-tion, characterization, and mutational analysis of two different genes, i.e., the AVP receptor 2 gene (AVPR2) and the vasopressin-sensitive water channel gene (aquaporin-2 [AQP2]), provide the basis for our understanding of two different hereditary forms of ND!: X-linked ND! and autosomal recessive NDI. A majority (>90%) of congenital ND! patients have AVPR2 mutations: Of 1 15 families with congenital ND! that were referred to our labo-ratories in Montreal and Berlin, 105 families had A VPR2 muta-tions and 10 had AQP2 mutations. When studied in vitro, most AVPR2 mutations lead to receptors that are trapped intracellularly and are unable to reach the plasma membrane. A minority of the
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.005 | 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".