Analysis of the relationship between genetic mutation, clinical manifestations and prognosis in hereditary angioedema: scoping review protocol
Bibliographic record
Abstract
Hereditary Angioedema (HAE) is a rare and severe genetic autosomal dominant disease of the immune system, caused by a deficiency of C1 esterase inhibitor (C1-INH). Classified into 3 subtypes: HAE with quantitative deficiency of the C1-INH inhibitor, C1-INH dysfunction, and normal C1-INH.The objective is to present a protocol examining the evidence on the relationship between mutations, clinical manifestations and prognosis in AEH. A systematic review will be conducted according to the steps: formulation of the clinical question (PICO), protocol with inclusion and exclusion criteria, conduction of a broad bibliographical search, extraction and summary of the included studies. This systematic review will follow the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Evidence will be obtained from the Pubmed, Embase, Web of Science and Scopus databases in the last 10 years. The selection of descriptors will be conducted using the Health Sciences Descriptors (DeCs), with the Boolean operators “AND and OR”, which will result in a search strategy for each proposed database. The selection will be conducted by two independent reviewers based on pre-determined criteria. In case of any discrepancy between the two reviewers, a third reviewer will mediate the conflict. Each study included will be assessed using the ROBINS-I, for the risk of bias, following the Oxford Evidence Base Center level of evidence and recommendation. Kappa Statistic will be used to assess inter-rater reliability. This systematic review will allow a greater understanding of HAE, and provide scientific evidence for healthcare professionals involved in the diagnosis and treatment of this disease.
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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 | 0.083 | 0.075 |
| Meta-epidemiology (narrow) | 0.005 | 0.005 |
| Meta-epidemiology (broad) | 0.015 | 0.014 |
| Bibliometrics | 0.014 | 0.011 |
| Science and technology studies | 0.005 | 0.005 |
| Scholarly communication | 0.008 | 0.007 |
| Open science | 0.006 | 0.006 |
| Research integrity | 0.008 | 0.005 |
| Insufficient payload (model declined to judge) | 0.077 | 0.012 |
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".