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Record W2096830897 · doi:10.1186/1710-1492-10-s2-a10

Type-III hereditary angioedema resolved by surgery

2014· article· en· W2096830897 on OpenAlexaffvenue
Lisa Fu, Fanny Silviu-Dan

Bibliographic record

VenueAllergy Asthma and Clinical Immunology · 2014
Typearticle
Languageen
FieldMedicine
TopicCoagulation, Bradykinin, Polyphosphates, and Angioedema
Canadian institutionsMcGill University
Fundersnot available
KeywordsBradykininHereditary angioedemaAngioedemaMedicineC1-inhibitorIcatibantFactor XIIInternal medicineDermatologySurgeryGastroenterologyReceptor

Abstract

fetched live from OpenAlex

In classic hereditary angioedema, inadequate C1-inhibitor (C1-INH) failing to restrict factor-XII activity leads to increased production of bradykinin, a potent vasodilator and mediator of angioedema. Hereditary angioedema with normal C1-INH (Type-III) manifests with sporadic recurrent angioedema but normal C1-INH concentration and activity. Here, bradykinin accumulation appears dependent on Factor XII and Factor XII gene mutations are sometimes found. Type-III angioedema affects almost exclusively females, worse in pregnancy, on oral contraceptives as estrogen may increase total bradykinin. Diagnosis is difficult given the clinical heterogeneity and lack of biochemical indicators. Treatment carries various risks when given for prophylaxis and a challenge for timely administration in an acute crisis. This is the first case report in the literature of a woman whose repeated angioedema episodes resolved with surgical resection of an ovarian cyst. A 41-year-old woman presented with recurrent severe episodes of face, tongue, and throat swelling occurring under variable circumstances and without clear triggers. C4 and C1-INH level and function were normal. Many years after symptom onset, a large ovarian cyst was diagnosed. Measured estrogen level was high. Once the cyst was surgically removed, no further angioedema occurred. Recently a son developed vibratory angioedema, a rare form of physical urticaria. A first cousin and niece in Italy have angioedema. Genome exome sequencing is underway to determine if specific genetic variations are contributing to this family cluster of angioedema. Resolution of Type-III hereditary angioedema manifestations by surgery upon diagnosing ovarian cysts as the source of estrogen excess adds a new facet to the evaluation and therapy for this condition. This family cluster of angioedema proposes an interesting question of genetic variations predisposing to angioedema.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0020.000

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.

Opus teacher head0.022
GPT teacher head0.293
Teacher spread0.271 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

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".

Quick stats

Citations0
Published2014
Admission routes2
Has abstractyes

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