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Record W4412832004 · doi:10.1186/s13023-025-03887-x

Family planning, sexual activity and contraception in hereditary hemorrhagic telangiectasia: a European survey study

2025· article· en· W4412832004 on OpenAlexaboutno aff
Josefien Hessels, Marco C. Post, Sanne Boerman, Freya Droege, Olivier Dupuis, Luisa M. Botella, Paolo Roberto Federici, Mildred Lundgren, Tone Søderman, Karen T. Druckman, Dara Woods, Urban W. Geisthoff, Pernille Darre Haahr, Anette Drøhse Kjeldsen, Fernando Brocca, Elisabetta Buscarini

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicVascular Anomalies and Treatments
Canadian institutionsnot available
FundersHospices Civils de LyonEuropean Commission
KeywordsTelangiectasiaMedicineAffect (linguistics)Family planningFamily medicineSexual lifeSexually activeQuarter (Canadian coin)PediatricsGynecologyPopulationPsychologySurgeryEnvironmental health

Abstract

fetched live from OpenAlex

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) can influence the quality of life and social relationships, mostly due to epistaxis, but the topics of family planning, sexual activity and contraception have not been investigated to date. This study aimed to gain more insight: what is the influence of HHT on family planning, sexual activity and contraception? METHODS: This multi-language European survey study included a patient's and partners' version of a questionnaire designed specifically for this study. HHT patients were informed about the study through HHT expert centres, social media and websites of patient associations. Data collection took place between March- May 2023. RESULTS: The survey was completed by 572 patients with a definite HHT diagnosis, based on genetic confirmation or ≥ 3 Curaçao criteria. In most patients, HHT did not affect relationship decisions (n = 353, 62%), decisions concerning pregnancy and children (n = 287, 50%) and sexual activity (n = 315, 57%). However, 28% of HHT patients (n = 157) did experience effect on sexual activity and may benefit from improved epistaxis management and better awareness of their partners. CONCLUSIONS: HHT did not affect family planning decisions and sexual activity in most patients, but approximately a quarter of patients experienced effect on sexual activity caused by epistaxis.

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)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.007
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.019
GPT teacher head0.293
Teacher spread0.274 · 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 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

Citations2
Published2025
Admission routes1
Has abstractyes

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Same venueOrphanet Journal of Rare DiseasesSame topicVascular Anomalies and TreatmentsFrench-language works237,207