XXVII Latin American Meeting of Pediatric Endocrinology. Cusco, Peru, October 24-27, 2018: Abstracts
Bibliographic record
Abstract
Introduction: Congenital Hyperinsulinism (CH) is the main cause of serious and persistence hypoglycemia in the neonatal period and it is secondary To inadequate insulin secretion despite hypoglycemia as the result of a genetic alteration of the sulfonylurea receptor of the beta cell.More than 150 mutations of the ABCC8 and 25 in KCNJ11 gene have been reported incidence is 1 in 5000 a live newborn babies, Higth metabolic fluxes, diazoxide, octreotide and even subtotal pancreatectomy are required.Objective: To describe a case of CH to make people aware of its diagnosis and treatment. Materials and Methods:We reviewed the clinical chart of a neonate with difficult to control hyperinsulinism.The propositus was a male burn at 36 week of gestation in no consanguineons parents.Weight 3.920 grams, height 52 cm.Patient presented at 13 hours of life, with a blood glucose of 3 mg/ dl, insulin of 99.1 Uu/ ml and a serum cortisol of 3.65 ug/dl.A subtotal pancreatectomy was performed because of no response to metabolic flow including diozoxide, octeotride and hydrocortisone.Pathology described as generalized nesidioblastosis.Hypoglycemia and hyperinsulinemia persisted following surgery pancreatectomy subtotal.Genetic studies revealed a heterozygous ABCC8 gene, missense, variant p (Gly 228 Asp) wite paternal inheritance suggesting uniparental disomy.This mutation has not be.Conclusion: Knowledge of the genetic alteration allows better management and parental counselling of this condition.
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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 | 0.001 |
| 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 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.096 | 0.018 |
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".