Johanson-Blizzard Syndrome: Autopsy Findings with Special Emphasis on Hypopituitarism and Review of the Literature
Bibliographic record
Abstract
We present the 1st autopsy findings of a child who had Johanson-Blizzard syndrome (JBS) and hypopituitarism. The patient died of acute bronchopneumonia at the age of 4 years. The autopsy revealed a small undescended pituitary that contained a glial hamartoma and a small rim of adenohypopysial cells, which were minimally reactive immunohistologically only for growth hormone. We review the literature with regard to other cases of JBS and hypopituitarism and pituitary function. The need for evaluating pituitary function in all patients with JBS is stressed. At the time of his death, our patient had no clinical evidence of pancreatic exocrine deficiency, and the histology of the pancreas revealed a normal number of acini; however, the acinar cells had an immature appearance. The microlobules were separated by loose fibrous tissue, and there was extensive periductal fibrosis. The spectrum of the pathognomic feature of congenital pancreatic exocrine insufficiency in JBS is discussed.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.006 | 0.003 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".