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Record W4411900567 · doi:10.1186/s13023-025-03846-6

Respiratory oscillometry in individuals with fibrodysplasia ossificans progressiva

2025· article· en· W4411900567 on OpenAlexafffund
Anastasiia Vasileva, Joyce Wu, Melissa Valaee, Ethan Ortiz, Zoltán Hantos, Lianne Tile, Irene Ho, Angela M. Cheung, Chung‐Wai Chow

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicHeterotopic Ossification and Related Conditions
Canadian institutionsSinai Health SystemUniversity of TorontoUniversity Health Network
FundersUniversity of TorontoHungarian Scientific Research Fund
KeywordsSpirometryMedicineFibrodysplasia ossificans progressivaCardiologyAirway obstructionInternal medicinePulmonary function testingRespiratory physiologyRestrictive lung diseasePopulationPhysical therapyRespiratory systemAirwayAnesthesiaSurgeryHeterotopic ossificationAsthma

Abstract

fetched live from OpenAlex

BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic bone disease that is characterized by progressive heterotopic ossification of the thoracic cavity. Prognosis is poor with cardiopulmonary complications being the main cause of death. Spirometry is a well-established metric of functional exercise capacity and prognosis in lung diseases but its use is limited in this population. Accuracy and validity of spirometry is dependent on forced expiratory maneuvers which are difficult to perform for individuals with FOP. Oscillometry is an effort-independent pulmonary function test that is highly sensitive to changes in respiratory mechanics. Little is known about oscillometry in individuals with FOP. The purpose of this paper is to characterize FOP using oscillometry. RESULTS: Eight participants with FOP were recruited for oscillometry prior to spirometry. Cumulative Analogue Joint Involvement Scale (CAJIS) scores were used to evaluate total body and regional FOP burden. Spirometry showed a uniform pattern of restrictive physiology in all eight participants with no significant difference amongst the group. Oscillometry revealed significant diversity in respiratory mechanics and chest wall involvement from normal, airway obstruction and ventilatory inhomogeneity to extra-thoracic airflow obstruction. We compared individuals with normal and abnormal oscillometry and found no statistically significant differences in functional status and clinical parameters. However, there is a tendency for lower CAJIS scores and fewer recent flare-ups in those with more normal respiratory mechanics. The tidal volumes were significantly higher in the group with more normal respiratory mechanics. Two wheelchair-dependent participants exhibited a pattern of high respiratory resistance that increased during both inspiration and expiration, to suggest presence of a fixed extra-thoracic defect. CONCLUSIONS: Oscillometry provides additional, more detailed information beyond spirometry in individuals with FOP. It is far easier than spirometry to complete and may be useful to help track disease progression and response to therapies in individuals with FOP.

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)0.000
metaresearch head score (Gemma)0.000
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 score0.043
Threshold uncertainty score0.393

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
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 head0.014
GPT teacher head0.297
Teacher spread0.283 · 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".

Quick stats

Citations0
Published2025
Admission routes2
Has abstractyes

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