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MG-114 First 2 years of experience of an integrated multidisciplinary clinic for adults with aortopathies in a canadian context

2015· article· en· W2418119807 on OpenAlexaffabout
Anne‐Marie Laberge, I. El Hamamsy, Laura Robb, Philippe Demers, Nancy Poirier, François‐Pierre Mongeon

Bibliographic record

VenueClinical Genetics · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicConnective tissue disorders research
Canadian institutionsCentre Hospitalier Universitaire Sainte-JustineMontreal Heart Institute
Fundersnot available
KeywordsMarfan syndromeMedicineContext (archaeology)ReferralGeneticistHeart diseasePediatricsBicuspid aortic valveMultidisciplinary approachFamily historyMultidisciplinary teamFamily medicineInternal medicineAortic valveNursing

Abstract

fetched live from OpenAlex

<h3>Background</h3> In 2012, the Montreal Heart Institute started an integrated multidisciplinary clinic for adults referred for suspicion of Marfan syndrome or other connective tissue disorders at risk of aortic disease. A heart team (cardiologist specialised in adult congenital heart disease, heart surgeons specialised in aortic surgery) and a genetics team (medical geneticist, genetic counsellor) work side-by-side. Both teams see patients with a family history of aortic disease or systemic features of Marfan syndrome. The heart team sees patients with presumed isolated aortic disease and determines if evaluation by the genetics team is needed. <h3>Objective</h3> Assess first two years of clinic activities. <h3>Methods</h3> Review of clinic database and patient charts for period between May 2012 and May 2014. <h3>Results</h3> 183 new patients were assessed, from 146 different families. Reasons for referral included suspicion of Marfan (72), Loeys-Dietz (15), or Ehlers-Danlos syndrome (8); TAAD (56); and sudden death in the family (6). All were seen by the heart team; 70 were seen by the geneticist for a dysmorphological exam. All had dedicated cardiovascular imaging in our centre. Genetic tests were ordered for 35 patients. Close links with the paediatric and prenatal genetic clinics have facilitated efficient cross-referrals: we referred eight children of our adult patients. Most importantly, we rapidly assessed three pregnant women at risk of aortic disease and eight affected parents (identified through their child) who had no active follow-up. <h3>Conclusions</h3> Our integrated multidisciplinary approach results in efficient access to specialised cardiac and genetic assessments and rapid management when required.

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 distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.450
Threshold uncertainty score0.994

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.002
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 integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.063
GPT teacher head0.401
Teacher spread0.338 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
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".

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Citations0
Published2015
Admission routes2
Has abstractyes

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