Abstracts of the 52nd Workshop for Pediatric Research
Bibliographic record
Abstract
BackgroundA male dizygotic twin was delivered at a gestational age of 36 weeks in the Children's Hospital of the Helios Medical Centre Wuppertal, Witten/Herdecke University Hospital.Contrary to his brother the boy presented dystrophic at birth (1.715 g birth weight; 150 g below 3rd percentile) and developed adverse gastrointestinal conditions within the first 2 months of life.These included chronic mucosal inflammation and oedematous lamina propria in the intestine, which contributed to intractable diarrhoea.At an age of 7 months the infant eventually died of enteral haemorrhages and liver failure.Further anamnesis revealed several similar fatalities in the familial clan with reportedly frequent parental consanguinity.Intractable chronic diarrhoea in infancy are heterogeneous disorders challenging for diagnostics and therapy.Despite extensive diagnostic approaches the etiology of many cases remains elusive.Investigating putatively underlying genetic disorders might clarify many cases. ResultsTo contribute to the diagnosis we performed whole exome sequencing of the affected infant as well as his twin brother and parents.We identified a suspicious nonsynonymous single nucleotide polymorphism (SNP) in the integrin beta-6 gene (ITGB6G1312A) entailing a V438M substitution.This SNP is very rare in the G1000 cohort and predicted being potentially harmful.The allelic distribution in the genotyped family members fit well with an autosomal recessive inheritance scheme.We performed computational biological and molecular biological analyses on the α V β6 integrin receptor function suggesting that the integrin α V β6 dimerization could be impaired, potentially causing a loss of α V β6 function in wound healing and epithelial tissue integrity. ConclusionsOur study provides a starting point for elucidating integrin α V β6 function and for understanding a pathomechanistical relevance of ITGB6V438M.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.003 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".